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Sample records for early onset dementia

  1. Early-Onset Dementia

    DEFF Research Database (Denmark)

    Konijnenberg, Elles; Fereshtehnejad, Seyed-Mohammad; Kate, Mara Ten

    2017-01-01

    BACKGROUND: Early-onset dementia (EOD) is a rare condition, with an often atypical clinical presentation, and it may therefore be challenging to diagnose. Specialized memory clinics vary in the type of patients seen, diagnostic procedures applied, and the pharmacological treatment given. The aim...... of this study was to investigate quality-of-care indicators in subjects with EOD from 3 tertiary memory clinics in 3 European countries. METHODS: We included 1325 newly diagnosed EOD patients, ages 65 years or younger, between January 1, 2007 and December 31, 2013, from the Danish Dementia Registry...... (Rigshospitalet, Copenhagen), the Swedish Dementia Registry ("SveDem", Karolinska University Hospital, Stockholm), and the Amsterdam Dementia Cohort (VU University Medical Center). RESULTS: The frequency of EOD among all dementia patients was significantly lower in Copenhagen (410, 20%) and Stockholm (284, 21...

  2. Epidemiology of early-onset dementia: a review of the literature

    Science.gov (United States)

    Vieira, Renata Teles; Caixeta, Leonardo; Machado, Sergio; Silva, Adriana Cardoso; Nardi, Antonio Egidio; Arias-Carrión, Oscar; Carta, Mauro Giovanni

    2013-01-01

    Presenile Dementia or Early Onset Dementia (EOD) is a public health problem, it differs from Senile Dementia, and encloses a significant number of cases; nevertheless, it is still poorly understood and underdiagnosed. This study aims to review the prevalence and etiology of EOD, comparing EOD with Senile Dementia, as well as to show the main causes of EOD and their prevalence in population and non-population based studies. The computer-supported search used the following databases: Pubmed/Medline, ISI Web of Knowledge and Scielo. The search terms were alcohol-associated dementia, Alzheimer’s disease, dementia, Creutzfeldt-jakob disease, dementia with lewy bodies, early onset dementia, frontotemporal lobar degeneration, Huntington’s disease, mixed dementia, neurodegenerative disorders, Parkinson’s disease dementia, presenile dementia, traumatic brain injury, vascular dementia. Only papers published in English and conducted from 1985 up to 2012 were preferentially reviewed. Neurodegenerative diseases are the most common etiologies seen in EOD. Among the general population, the prevalence of EOD was found to range between 0 to 700 per 100.000 habitants in groups of 25-64 years old, with an increasing incidence with age. The progression of EOD was found to range between 8.3 to 22.8 new cases per 100.000 in those aged under 65 years. Alzheimer's disease (AD) is the major etiology, followed by Vascular Dementia (VaD) and Frontotemporal Lobar Degeneration (FTLD). A larger number of epidemiological studies to elucidate how environmental issues contribute to EOD are necessary, thus, we can collaborate in the planning and prevention of services toward dementia patients. PMID:23878613

  3. Genetics of Early-Onset Alzheimer Dementia

    Directory of Open Access Journals (Sweden)

    Rosa Rademakers

    2003-01-01

    Full Text Available Alzheimer�s dementia (AD is the most common degenerative disorder of the central nervous system. Although the onset of dementia is above 65 years of age in the majority of the patients (late-onset AD, LOAD, a small subgroup of patients develops AD before 65 years of age (early-onset AD, EOAD. To date 3 genes responsible for EOAD have been identified: the amyloid precursor protein gene (APP, presenilin 1 (PSEN1 and presenilin 2 (PSEN2. PSEN1 is the most frequently mutated EOAD gene with a mutation frequency of 18 to 50% in autosomal dominant EOAD. In addition, the e4 allele of the gene encoding apolipoprotein E (APOE was identified as a risk factor for both LOAD and EOAD. Many studies reported other susceptibility genes, but the APOE?4 alelle has been the only risk factor that was consistently replicated in all AD populations. Extensive cell biology research in the past ten years led to the hypothesis that the 4 EOAD genes lead to AD through a common biological pathway resulting in abnormal APP processing by subtle different mechanisms. Now, transgenic mice are produced to study the influence of EOAD mutations in vivo, eventually leading to the development of novel therapeutic strategies.

  4. The Rest-Activity Rhythm and Physical Activity in Early-Onset Dementia

    NARCIS (Netherlands)

    Hooghiemstra, A.M.; Eggermont, L.H.P.; Scheltens, P.; van der Flier, W.M.; Scherder, E.J.A.

    2015-01-01

    Background: A substantial part of elderly persons with dementia show rest-activity rhythm disturbances. The rest-activity rhythm is important to study in people with early-onset dementia (EOD) for rest-activity rhythm disturbances are predictive of institutionalization, and caregivers of young

  5. Caregivers' perspectives on the pre-diagnostic period in early onset dementia: a long and winding road

    NARCIS (Netherlands)

    van Vliet, D.; de Vugt, M.E.; Bakker, C.; Koopmans, R.T.C.M.; Pijnenburg, Y.A.L.; Vernooij-Dassen, M.; Verhey, F.R.J.

    2011-01-01

    Background: Recognizing and diagnosing early onset dementia (EOD) can be complex and often takes longer than for late onset dementia. The objectives of this study are to investigate the barriers to diagnosis and to develop a typology of the diagnosis pathway for EOD caregivers. Methods:

  6. Early vs late age at onset frontotemporal dementia and frontotemporal lobar degeneration.

    Science.gov (United States)

    Seo, Sang Won; Thibodeau, Marie-Pierre; Perry, David C; Hua, Alice; Sidhu, Manu; Sible, Isabel; Vargas, Jose Norberto S; Gaus, Stephanie E; Rabinovici, Gil D; Rankin, Katherine D; Boxer, Adam L; Kramer, Joel H; Rosen, Howard J; Gorno-Tempini, Maria Luisa; Grinberg, Lea T; Huang, Eric J; DeArmond, Stephen J; Trojanowski, John Q; Miller, Bruce L; Seeley, William W

    2018-03-20

    To examine clinicopathologic correlations in early vs late age at onset frontotemporal dementia (FTD) and frontotemporal lobar degeneration (FTLD). All patients were clinically evaluated and prospectively diagnosed at the UCSF Memory and Aging Center. Two consecutive series were included: (1) patients with a clinically diagnosed FTD syndrome who underwent autopsy (cohort 1) and (2) patients with a primary pathologic diagnosis of FTLD, regardless of the clinical syndrome (cohort 2). These series were divided by age at symptom onset (cutoff 65 years). In cohort 1, 48 (25.3%) were 65 years or older at symptom onset. Pathologic causes of behavioral variant FTD (bvFTD) were similar in the early age at onset (EO) and late age at onset (LO) bvFTD groups. In corticobasal syndrome (CBS), however, the most common pathologic substrate differed according to age at onset: progressive supranuclear palsy (42.9%) in LO-CBS and Alzheimer disease (AD; 40.7%) in EO-CBS. In cohort 2, 57 (28.4%) were classified as LO-FTLD. Regarding FTLD major molecular classes, FTLD with transactive response DNA-binding protein of 43 kDa was most common in EO-FTLD (44.4%), whereas FTLD-tau (58.3%) was most common in LO-FTLD. Antemortem diagnosis of a non-FTD syndrome, usually AD-type dementia, was more frequent in LO-FTLD than EO-FTLD (19.3% vs 7.7%, p = 0.017). LO-FTLD was also associated with more prevalent comorbid pathologic changes. Of these, moderate to severe AD neuropathologic change and argyrophilic grain disease were overrepresented among patients who received an antemortem diagnosis of AD-type dementia. Patients with FTD and FTLD often develop symptoms after age 65, and age at onset represents an important consideration when making antemortem neuropathologic predictions. © 2018 American Academy of Neurology.

  7. Neuropsychological assessment and differential diagnosis in young-onset dementias.

    Science.gov (United States)

    Sitek, Emilia J; Barczak, Anna; Harciarek, Michał

    2015-06-01

    Although Alzheimer's disease is the most common cause of dementia in the elderly, there are several conditions (ie, frontotemporal dementia or Huntington's disease) associated with a relatively earlier onset. This article provides arguments in favor of a comprehensive neuropsychological assessment in the differential diagnosis of young-onset dementia, as episodic memory impairment is not observed early in the course of most types of young-onset dementia that predominantly affect the domains of behavior, executive, language, and/or motor function. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. Characteristics of the spouse caregiving experience: Comparison between early- and late-onset dementia.

    Science.gov (United States)

    Wawrziczny, Emilie; Berna, Guillaume; Ducharme, Francine; Kergoat, Marie-Jeanne; Pasquier, Florence; Antoine, Pascal

    2017-06-20

    To investigate the characteristics of the caregiving experience according to age at onset of dementia to adapt support programs. Fifty-seven spouse caregivers of persons with early-onset dementia (PEOD) and 93 spouse caregivers of persons with late-onset dementia (PLOD) participated. The characteristics of the caregiving experience were assessed using questionnaires. We compared the two groups according to age at onset of the disease using a multivariate test, Pillai's Trace test. The analysis showed that there were similarities and differences between the two groups of spouse caregivers. All spouse caregivers were confident in their caregiving role and fairly well prepared for future needs and reported mild depressive and anxious symptoms. However, they lacked informal support, had low confidence in requesting respite care and reported effects on their health. Compared to spouse caregivers of PLOD, spouse caregivers of PEOD had more severe perceptions of the cognitive disorders of persons with dementia (PWD) and had a better sense of preparedness and knowledge of services. Spouse caregivers of PLOD were more confident in their ability to control disturbing thoughts. The results suggest that programs should provide information on support networks to improve preparedness for spouse caregivers of PLOD as well as emphasizing positive coping strategies for caregivers of PEOD to maintain good-quality relationships with PWD, which influences the perception of the symptoms. For both groups, family relationships should be considered.

  9. The Utility of the Addenbrooke's Cognitive Examination Version Three in Early-Onset Dementia.

    Science.gov (United States)

    Elamin, Marwa; Holloway, Guy; Bak, Thomas H; Pal, Suvankar

    2016-01-01

    Early-onset dementia (EOD) is defined as functionally relevant cognitive decline with age of onset at less than 65 years. The aim of this study was to investigate the utility of the recently validated third version of the Addenbrooke's Cognitive Examination (ACE-III) in predicting dementia diagnoses in EOD. ACE-III scores of EOD patients were compared to those of healthy controls (HC) and individuals with subjective memory impairment (SMI). The study included 71 EOD patients (Alzheimer's disease, n = 31; primary progressive aphasia, n = 11; behavioural-variant frontotemporal dementia, n = 18, and posterior cortical atrophy, n = 11); there were 28 HC and 15 individuals with SMI. At a cut-off score of 88/100, the ACE-III displayed high sensitivity and specificity in distinguishing EOD from HC (91.5 and 96.4%) and SMI (91.5 and 86.7%). The ACE-III is a reliable cognitive screening tool in EOD. © 2015 S. Karger AG, Basel.

  10. Psychosocial impact of early onset dementia among caregivers.

    Science.gov (United States)

    Kimura, Nathália R S; Maffioletti, Virgínia L R; Santos, Raquel L; Baptista, Maria Alice Tourinho; Dourado, Marcia C N

    2015-01-01

    There is growing recognition of early onset dementia (EOD) as a significant clinical and social problem because of its effects on physical and mental health of people with dementia (PWD) and their caregivers. To analyze the psychosocial impact of EOD in family caregivers. The study design was qualitative. Nine EOD caregivers (7 women) were recruited at a service for Alzheimer's disease and assessed using semi-structured interviews. Interpretative phenomenological analysis was used to analyze caregivers' reports. Five themes emerged from the narratives: psychological and emotional impact; physical impact; financial and professional impact; social impact and need for support services. The majority of the caregivers of people with EOD perceived their emotional wellbeing as poor or extremely poor. Carers reported poor physical health, which tends to be longer-lasting than mental health problems. Two caregivers had to retire after the disclosure of the dementia diagnosis, and seven reduced their work loads because they had to look after PWD. Preserving the abilities of PWD is essential to maintain their self-esteem, dignity and sense of utility. For the caregivers, interventions and stimulating activities make PWD feel worthwhile and contribute to improving life. The caregivers of people with EOD assume the role of caregiver prematurely and need to balance this activity with other responsibilities. There is a need for more studies of EOD in order to improve understanding of the impact of this disease and to enable development of adequate services for PWD and their caregivers.

  11. Cerebral glucose metabolic patterns in Alzheimer's disease. Effect of gender and age at dementia onset

    International Nuclear Information System (INIS)

    Small, G.W.; Kuhl, D.E.; Riege, W.H.; Fujikawa, D.G.; Ashford, J.W.; Metter, E.J.; Mazziotta, J.C.

    1989-01-01

    No previous study of Alzheimer's disease has, to our knowledge, assessed the effect of both age at dementia onset and gender on cerebral glucose metabolic patterns. To this end, we used positron emission tomography (fludeoxyglucose F 18 method) to study 24 patients with clinical diagnoses of probable Alzheimer's disease. Comparisons of the 13 patients with early-onset dementia (less than 65 years of age) with the 11 patients with late-onset dementia (greater than 65 years of age) revealed significantly lower left parietal metabolic ratios (left posterior parietal region divided by the hemispheric average) in the early-onset group. The metabolic ratio of posterior parietal cortex divided by the relatively disease-stable average of caudate and thalamus also separated patients with early-onset dementia from those with late-onset dementia, but not men from women. Further comparisons between sexes showed that, in all brain regions studied, the 9 postmenopausal women had higher nonweighted mean metabolic rates than the 15 men from the same age group, with hemispheric sex differences of 9% on the right and 7% on the left. These results demonstrate decreased parietal ratios in early-onset dementia of Alzheimer's disease, independent of a gender effect

  12. Incidence of early-onset dementia in Mar del Plata.

    Science.gov (United States)

    Sanchez Abraham, M; Scharovsky, D; Romano, L M; Ayala, M; Aleman, A; Sottano, E; Etchepareborda, I; Colla Machado, C; García, M I; Gonorazky, S E

    2015-03-01

    Early-onset dementia (EOD) is defined as dementia with onset before the age of 65 years. EOD is increasingly recognised as an important clinical and social problem with devastating consequences for patients and caregivers. Determine the annual crude incidence rate and the specific incidence rates by sex and age in patients with EOD, and the standardised rate using the last national census of the population of Argentina (NCPA), from 2010. Hospital Privado de Comunidad, Mar del Plata, Argentina, attends a closed population and is the sole healthcare provider for 17 614 people. Using the database pertaining to the Geriatric Care department, we identified all patients diagnosed with EOD between 1 January, 2005 and 31 December, 2011. EOD was defined as dementia diagnosed in patients younger than 65. The study period yielded 14 patients diagnosed with EOD out of a total of 287 patients evaluated for memory concerns. The crude annual incidence of EOD was 11 per 100 000/year (CI 95%: 6.25-19.1): 17 per 100 000 (CI 95%: 7.2-33.1) in men and 8 per 100 000 (CI 95%: 3.4-17.2) in women. We observed a statistically significant increase when comparing incidence rates between patients aged 21 to <55 years and ≥ 55 to <65 years (3 vs 22 per 100 000, P=.0014). The rate adjusted by NCPA census data was 5.8 cases of EOD habitants/year. This study, conducted in a closed population, yielded an EOD incidence rate of 11 per 100 000 inhabitants/year. To the best of our knowledge, this is the first prospective epidemiological study in Argentina and in Latin America. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  13. Psychosocial impact of early onset dementia among caregivers

    Directory of Open Access Journals (Sweden)

    Nathália R. S. Kimura

    2015-12-01

    Full Text Available Introduction: There is growing recognition of early onset dementia (EOD as a significant clinical and social problem because of its effects on physical and mental health of people with dementia (PWD and their caregivers. Objective: To analyze the psychosocial impact of EOD in family caregivers. Methods: The study design was qualitative. Nine EOD caregivers (7 women were recruited at a service for Alzheimer's disease and assessed using semi-structured interviews. Interpretative phenomenological analysis was used to analyze caregivers' reports. Results: Five themes emerged from the narratives: psychological and emotional impact; physical impact; financial and professional impact; social impact and need for support services. The majority of the caregivers of people with EOD perceived their emotional wellbeing as poor or extremely poor. Carers reported poor physical health, which tends to be longer-lasting than mental health problems. Two caregivers had to retire after the disclosure of the dementia diagnosis, and seven reduced their work loads because they had to look after PWD. Preserving the abilities of PWD is essential to maintain their self-esteem, dignity and sense of utility. For the caregivers, interventions and stimulating activities make PWD feel worthwhile and contribute to improving life. Conclusion: The caregivers of people with EOD assume the role of caregiver prematurely and need to balance this activity with other responsibilities. There is a need for more studies of EOD in order to improve understanding of the impact of this disease and to enable development of adequate services for PWD and their caregivers.

  14. Diagnosing early onset dementia and then what? A frustrating system of aftercare resources

    Directory of Open Access Journals (Sweden)

    Chemali Z

    2012-01-01

    Full Text Available Z Chemali1–3, S Schamber2, EC Tarbi2, D Acar1,2, M Avila-Urizar21Harvard Medical School, 2Departments of Neurology and Psychiatry, Division of Cognitive and Behavioral Neurology, Brigham and Women’s Hospital, 3Departments of Psychiatry and Neurology, Massachusetts General Hospital, Boston, MA, USAAbstract: Recent studies indicate that the prevalence of early onset dementia (EOD is more common than it was once presumed. As such, and considering the substantial challenges EOD presents to the patient, caregivers, and health care providers, this study sought to investigate the mechanism of care delivered to these patients. A medical record chart review was conducted for 85 patients attending a memory disorder unit who initially presented to rule out EOD as a working diagnosis. The results suggest that while the majority of these patients received an extensive work-up and were heavily medicated, they remained at home, where they lacked adequate age-related services and could not be placed, despite the crippling caregiver burden. This manuscript is a platform to discuss our current system limitations in the care of these patients with an eye on new opportunities for this challenging group.Keywords: early onset dementia, social work, services, caregiving

  15. Exercise and Early-Onset Alzheimer’s Disease: Theoretical Considerations

    Directory of Open Access Journals (Sweden)

    Astrid M. Hooghiemstra

    2012-04-01

    Full Text Available Background/Aims: Although studies show a negative relationship between physical activity and the risk for cognitive impairment and late-onset Alzheimer’s disease, studies concerning early-onset Alzheimer’s disease (EOAD are lacking. This review aims to justify the value of exercise interventions in EOAD by providing theoretical considerations that include neurobiological processes. Methods: A literature search on key words related to early-onset dementia, exercise, imaging, neurobiological mechanisms, and cognitive reserve was performed. Results/Conclusion: Brain regions and neurobiological processes contributing to the positive effects of exercise are affected in EOAD and, thus, provide theoretical support for exercise interventions in EOAD. Finally, we present the design of a randomized controlled trial currently being conducted in early-onset dementia patients.

  16. Delayed-onset dementia after stroke or transient ischemic attack.

    Science.gov (United States)

    Mok, Vincent C T; Lam, Bonnie Y K; Wang, Zhaolu; Liu, Wenyan; Au, Lisa; Leung, Eric Y L; Chen, Sirong; Yang, Jie; Chu, Winnie C W; Lau, Alexander Y L; Chan, Anne Y Y; Shi, Lin; Fan, Florence; Ma, Sze H; Ip, Vincent; Soo, Yannie O Y; Leung, Thomas W H; Kwok, Timothy C Y; Ho, Chi L; Wong, Lawrence K S; Wong, Adrian

    2016-11-01

    Patients surviving stroke without immediate dementia are at high risk of delayed-onset dementia. Mechanisms underlying delayed-onset dementia are complex and may involve vascular and/or neurodegenerative diseases. Dementia-free patients with stroke and/or transient ischemic attack (TIA; n = 919) were studied for 3 years prospectively, excluding those who developed dementia 3 to 6 months after stroke and/or TIA. Forty subjects (4.4%) developed dementia during the study period. Imaging markers of severe small vessel disease (SVD), namely presence of ≥3 lacunes and confluent white matter changes; history of hypertension and diabetes mellitus independently predicted delayed-onset dementia after adjustment for age, gender, and education. Only 6 of 31 (19.4%) subjects with delayed cognitive decline harbored Alzheimer's disease-like Pittsburg compound B (PiB) retention. Most PiB cases (16/25, 64%) had evidence of severe SVD. Severe SVD contributes importantly to delayed-onset dementia after stroke and/or TIA. Future clinical trials aiming to prevent delayed-onset dementia after stroke and/or TIA should target this high-risk group. Copyright © 2016 The Alzheimer's Association. Published by Elsevier Inc. All rights reserved.

  17. Early-onset Alzheimer's Disease Phenotypes: Neuropsychology and Neural Networks

    Science.gov (United States)

    2017-05-11

    Alzheimer Disease, Early Onset; Alzheimer Disease; Alzheimer Disease, Late Onset; Dementia, Alzheimer Type; Logopenic Progressive Aphasia; Primary Progressive Aphasia; Visuospatial/Perceptual Abilities; Posterior Cortical Atrophy; Executive Dysfunction; Corticobasal Degeneration; Ideomotor Apraxia

  18. A case of probable non-familial early onset Alzheimer dementia in a Hispanic male

    Directory of Open Access Journals (Sweden)

    Corey Ephrussi

    2012-07-01

    Full Text Available Background: Early onset Alzheimer's type dementia (EOAD is usually familial and associated with mutations in the Presenilin-1 (PSEN1, Presenilin-2 (PSEN2 or amyloid precursor protein (APP genes. It is rarely reported in patients of Hispanic descent. Case report: A 49-year-old Hispanic male developed significant cognitive impairment over a 4-year period. PET scan showed diminished metabolic activity in the posterior parietal/temporal lobes. Genetic testing revealed the presence of a PSEN1 gene mutation. Conclusion: Disparities in health care may account for an under-recognition of EOAD in the Hispanic population. Clinicians should test for EOAD in all patients with appropriate symptomatology, regardless of ethnicity. Early recognition and enrollment in clinical trials is vital to enhancing our understanding of the natural history and treatment of this condition.

  19. Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.

    Science.gov (United States)

    Nicolas, Gaël; Wallon, David; Charbonnier, Camille; Quenez, Olivier; Rousseau, Stéphane; Richard, Anne-Claire; Rovelet-Lecrux, Anne; Coutant, Sophie; Le Guennec, Kilan; Bacq, Delphine; Garnier, Jean-Guillaume; Olaso, Robert; Boland, Anne; Meyer, Vincent; Deleuze, Jean-François; Munter, Hans Markus; Bourque, Guillaume; Auld, Daniel; Montpetit, Alexandre; Lathrop, Mark; Guyant-Maréchal, Lucie; Martinaud, Olivier; Pariente, Jérémie; Rollin-Sillaire, Adeline; Pasquier, Florence; Le Ber, Isabelle; Sarazin, Marie; Croisile, Bernard; Boutoleau-Bretonnière, Claire; Thomas-Antérion, Catherine; Paquet, Claire; Sauvée, Mathilde; Moreaud, Olivier; Gabelle, Audrey; Sellal, François; Ceccaldi, Mathieu; Chamard, Ludivine; Blanc, Frédéric; Frebourg, Thierry; Campion, Dominique; Hannequin, Didier

    2016-05-01

    Causative variants in APP, PSEN1 or PSEN2 account for a majority of cases of autosomal dominant early-onset Alzheimer disease (ADEOAD, onset before 65 years). Variant detection rates in other EOAD patients, that is, with family history of late-onset AD (LOAD) (and no incidence of EOAD) and sporadic cases might be much lower. We analyzed the genomes from 264 patients using whole-exome sequencing (WES) with high depth of coverage: 90 EOAD patients with family history of LOAD and no incidence of EOAD in the family and 174 patients with sporadic AD starting between 51 and 65 years. We found three PSEN1 and one PSEN2 causative, probably or possibly causative variants in four patients (1.5%). Given the absence of PSEN1, PSEN2 and APP causative variants, we investigated whether these 260 patients might be burdened with protein-modifying variants in 20 genes that were previously shown to cause other types of dementia when mutated. For this analysis, we included an additional set of 160 patients who were previously shown to be free of causative variants in PSEN1, PSEN2 and APP: 107 ADEOAD patients and 53 sporadic EOAD patients with an age of onset before 51 years. In these 420 patients, we detected no variant that might modify the function of the 20 dementia-causing genes. We conclude that EOAD patients with family history of LOAD and no incidence of EOAD in the family or patients with sporadic AD starting between 51 and 65 years have a low variant-detection rate in AD genes.

  20. Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.

    Science.gov (United States)

    An, Seong Soo A; Bagyinszky, Eva; Kim, Hye Ryoun; Seok, Ju-Won; Shin, Hae-Won; Bae, SeunOh; Kim, SangYun; Youn, Young Chul

    2016-05-20

    Three main genes are described as causative genes for early-onset Alzheimer dementia (EOAD): APP, PSEN1 and PSEN2. We describe a woman with EOAD had a novel PSEN1 mutation. A 54-year-old right-handed woman presented 12-year history of progressive memory decline. She was clinically diagnosed as familial Alzheimer's disease due to a PSEN1 mutation. One of two daughters also has the same mutation, G209A in the TM-IV of PS1 protein. Her mother had unspecified dementia that began at the age of 40s. PolyPhen2 and SIFT prediction suggested that G209A might be a damaging variant with high scores. 3D modeling revealed that G209A exchange could result significant changes in the PS1 protein. We report a case of EOAD having probable novel PSEN1 (G209A) mutation verified with structural prediction.

  1. Young onset dementia: the impact of emergent age-based factors upon personhood.

    Science.gov (United States)

    Tolhurst, Edward; Bhattacharyya, Sarmishtha; Kingston, Paul

    2014-03-01

    This paper evaluates how emergent age-based factors may impact upon the experience of dementia. A review of selected literature is undertaken to explore how personhood has been conceptualised in relation to dementia. It is then highlighted that very little literature explicitly addresses personhood with reference to young onset dementia. Young onset dementia is defined, and evaluation is then undertaken of the distinctive age-based factors that might shape the experience of the condition. It is noted that whilst there are separate literatures on both personhood and young onset dementia, there appears to be little endeavour to draw these two strands of thought together. The distinctive factors that shape young onset dementia suggest that a more heterogeneous perspective should be developed that accounts more appropriately for how personal characteristics shape the lived experience of dementia. The paper concludes that further research should be undertaken that has an explicit focus on personhood and young onset dementia.

  2. Primary caregivers' awareness and perception of early-onset dementia conditions in adolescents and young and middle-aged adults with Down syndrome.

    Science.gov (United States)

    Lin, Jin-Ding; Chen, Wen-Xiu; Hsu, Shang-Wei; Lin, Lan-Ping; Lin, Fu-Gong; Tang, Chi-Chieh; Wu, Jia-Ling; Chu, Cordia; Chou, Yu-Ching

    2014-09-01

    The present study aims to investigate the onset of dementia conditions using the Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID) scale and to identify the possible factors associated with DSQIID scores in people with Down syndrome (DS). The study population was recruited from the voluntary registry members of the Republic of China Foundation for Persons with Down syndrome; primary caregivers provided DSQIID information on 196 adolescents and adults with DS (aged 15-48 years) who were entered into the database and analyzed using SPSS 20.0 software. The results described the distribution of early-onset dementia conditions in 53 adolescents and adults with DS, and 2.6% of the subjects with DS had possible dementia (DSQIID score ≧ 20). Univariate analyses found that older age (p=0.001) and comorbid conditions (p=0.003) were significantly associated with DSQIID scores. Older subjects were more likely to have higher DSQIID scores than were younger age groups after ANOVA and Scheffe's tests. Lastly, a multiple linear regression analysis revealed that age (p<0.01), severe disability level (p<0.05) and comorbid condition (p<0.01) significantly explained 13% of the variation in DSQIID scores after adjusting for the factors of gender, education level and multiple disabilities in adolescents and adults with DS. The study highlights that future research should focus on the occurrence of dementia in people with DS and on identifying its influencing factors based on sound measurements, to initiate appropriate healthy aging policies for this group of people. Copyright © 2014 Elsevier Ltd. All rights reserved.

  3. Lymphocyte concanavalin A capping: a similarity between Down's syndrome and early onset primary degenerative dementia.

    OpenAIRE

    Duijndam-van den Berge, M; Goekoop, J G

    1986-01-01

    Lymphocyte capping with concanavalin A was studied in adult patients with Down's syndrome and aged patients with primary degenerative dementia. In both disorders a decreased capping was found as compared with age-matched and clinically relevant control groups. Colchicine had a strong enhancing effect on capping in Down's syndrome. In primary degenerative dementia the enhancing effect of colchicine was restricted to a subgroup of patients with onset of the dementing illness before the age of 8...

  4. Age of major depression onset, depressive symptoms, and risk for subsequent dementia: results of the German study on Ageing, Cognition, and Dementia in Primary Care Patients (AgeCoDe).

    Science.gov (United States)

    Heser, K; Tebarth, F; Wiese, B; Eisele, M; Bickel, H; Köhler, M; Mösch, E; Weyerer, S; Werle, J; König, H-H; Leicht, H; Pentzek, M; Fuchs, A; Riedel-Heller, S G; Luppa, M; Prokein, J; Scherer, M; Maier, W; Wagner, M

    2013-08-01

    Whether late-onset depression is a risk factor for or a prodrome of dementia remains unclear. We investigated the impact of depressive symptoms and early- v. late-onset depression on subsequent dementia in a cohort of elderly general-practitioner patients (n = 2663, mean age = 81.2 years). Risk for subsequent dementia was estimated over three follow-ups (each 18 months apart) depending on history of depression, particularly age of depression onset, and current depressive symptoms using proportional hazard models. We also examined the additive prediction of incident dementia by depression beyond cognitive impairment. An increase of dementia risk for higher age cut-offs of late-onset depression was found. In analyses controlling for age, sex, education, and apolipoprotein E4 genotype, we found that very late-onset depression (aged ≥ 70 years) and current depressive symptoms separately predicted all-cause dementia. Combined very late-onset depression with current depressive symptoms was specifically predictive for later Alzheimer's disease (AD; adjusted hazard ratio 5.48, 95% confidence interval 2.41-12.46, p < 0.001). This association was still significant after controlling for cognitive measures, but further analyses suggested that it was mediated by subjective memory impairment with worries. Depression might be a prodrome of AD but not of dementia of other aetiology as very late-onset depression in combination with current depressive symptoms, possibly emerging as a consequence of subjectively perceived worrisome cognitive deterioration, was most predictive. As depression parameters and subjective memory impairment predicted AD independently of objective cognition, clinicians should take this into account.

  5. Nursing Staff Distress Associated With Neuropsychiatric Symptoms in Young-Onset Dementia and Late-Onset Dementia

    NARCIS (Netherlands)

    van Duinen-van den IJssel, Jeannette C L; Mulders, Ans J M J; Smalbrugge, Martin; Zwijsen, Sandra A; Appelhof, Britt; Zuidema, Sytse U; de Vugt, Marjolein E; Verhey, Frans R J; Bakker, Christian; Koopmans, Raymond T C M

    2017-01-01

    OBJECTIVE: The aims of this study were (1) to investigate the relationship between different neuropsychiatric symptoms (NPS) and the level of distress experienced by nurses caring for residents with young-onset dementia (YOD) and (2) to compare these findings with those for nurses caring for

  6. Early Dementia Screening

    Directory of Open Access Journals (Sweden)

    Peter K. Panegyres

    2016-01-01

    Full Text Available As the population of the world increases, there will be larger numbers of people with dementia and an emerging need for prompt diagnosis and treatment. Early dementia screening is the process by which a patient who might be in the prodromal phases of a dementing illness is determined as having, or not having, the hallmarks of a neurodegenerative condition. The concepts of mild cognitive impairment, or mild neurocognitive disorder, are useful in analyzing the patient in the prodromal phase of a dementing disease; however, the transformation to dementia may be as low as 10% per annum. The search for early dementia requires a comprehensive clinical evaluation, cognitive assessment, determination of functional status, corroborative history and imaging (including MRI, FDG-PET and maybe amyloid PET, cerebrospinal fluid (CSF examination assaying Aβ1–42, T-τ and P-τ might also be helpful. Primary care physicians are fundamental in the screening process and are vital in initiating specialist investigation and treatment. Early dementia screening is especially important in an age where there is a search for disease modifying therapies, where there is mounting evidence that treatment, if given early, might influence the natural history—hence the need for cost-effective screening measures for early dementia.

  7. Bilingualism delays age at onset of dementia, independent of education and immigration status.

    Science.gov (United States)

    Alladi, Suvarna; Bak, Thomas H; Duggirala, Vasanta; Surampudi, Bapiraju; Shailaja, Mekala; Shukla, Anuj Kumar; Chaudhuri, Jaydip Ray; Kaul, Subhash

    2013-11-26

    The purpose of the study was to determine the association between bilingualism and age at onset of dementia and its subtypes, taking into account potential confounding factors. Case records of 648 patients with dementia (391 of them bilingual) diagnosed in a specialist clinic were reviewed. The age at onset of first symptoms was compared between monolingual and bilingual groups. The influence of number of languages spoken, education, occupation, and other potentially interacting variables was examined. Overall, bilingual patients developed dementia 4.5 years later than the monolingual ones. A significant difference in age at onset was found across Alzheimer disease dementia as well as frontotemporal dementia and vascular dementia, and was also observed in illiterate patients. There was no additional benefit to speaking more than 2 languages. The bilingual effect on age at dementia onset was shown independently of other potential confounding factors such as education, sex, occupation, and urban vs rural dwelling of subjects. This is the largest study so far documenting a delayed onset of dementia in bilingual patients and the first one to show it separately in different dementia subtypes. It is the first study reporting a bilingual advantage in those who are illiterate, suggesting that education is not a sufficient explanation for the observed difference. The findings are interpreted in the context of the bilingual advantages in attention and executive functions.

  8. An Intron 7 Polymorphism in APP Affects the Age of Onset of Dementia in Down Syndrome

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    Emma L. Jones

    2011-01-01

    Full Text Available People with Down syndrome (DS develop Alzheimer's disease (AD with an early age of onset. A tetranucleotide repeat, attt5−8, in intron 7 of the amyloid precursor protein has been associated with the age of onset of AD in DS in a preliminary study. The authors examine the impact of this polymorphism in a larger cohort of individuals with DS. Adults with DS were genotyped for attt5−8 and APOE. The results were analysed with respect to the age of onset of dementia. The presence of three copies of the six-repeat allele resulted in onset of dementia seven years earlier than in the presence of other genotypes. Further study is essential to elucidate the mechanism by which this polymorphism functions, with an exciting opportunity to identify novel treatment targets relevant for people with DS and AD.

  9. Delaying Onset of Dementia: Are Two Languages Enough?

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    Morris Freedman

    2014-01-01

    Full Text Available There is an emerging literature suggesting that speaking two or more languages may significantly delay the onset of dementia. Although the mechanisms are unknown, it has been suggested that these may involve cognitive reserve, a concept that has been associated with factors such as higher levels of education, occupational status, social networks, and physical exercise. In the case of bilingualism, cognitive reserve may involve reorganization and strengthening of neural networks that enhance executive control. We review evidence for protective effects of bilingualism from a multicultural perspective involving studies in Toronto and Montreal, Canada, and Hyderabad, India. Reports from Toronto and Hyderabad showed a significant effect of speaking two or more languages in delaying onset of Alzheimer’s disease by up to 5 years, whereas the Montreal study showed a significant protective effect of speaking at least four languages and a protective effect of speaking at least two languages in immigrants. Although there were differences in results across studies, a common theme was the significant effect of language use history as one of the factors in determining the onset of Alzheimer’s disease. Moreover, the Hyderabad study extended the findings to frontotemporal dementia and vascular dementia.

  10. Delaying onset of dementia: are two languages enough?

    Science.gov (United States)

    Freedman, Morris; Alladi, Suvarna; Chertkow, Howard; Bialystok, Ellen; Craik, Fergus I M; Phillips, Natalie A; Duggirala, Vasanta; Raju, Surampudi Bapi; Bak, Thomas H

    2014-01-01

    There is an emerging literature suggesting that speaking two or more languages may significantly delay the onset of dementia. Although the mechanisms are unknown, it has been suggested that these may involve cognitive reserve, a concept that has been associated with factors such as higher levels of education, occupational status, social networks, and physical exercise. In the case of bilingualism, cognitive reserve may involve reorganization and strengthening of neural networks that enhance executive control. We review evidence for protective effects of bilingualism from a multicultural perspective involving studies in Toronto and Montreal, Canada, and Hyderabad, India. Reports from Toronto and Hyderabad showed a significant effect of speaking two or more languages in delaying onset of Alzheimer's disease by up to 5 years, whereas the Montreal study showed a significant protective effect of speaking at least four languages and a protective effect of speaking at least two languages in immigrants. Although there were differences in results across studies, a common theme was the significant effect of language use history as one of the factors in determining the onset of Alzheimer's disease. Moreover, the Hyderabad study extended the findings to frontotemporal dementia and vascular dementia.

  11. The Determinants of Quality of Life of Nursing Home Residents with Young-Onset Dementia and the Differences between Dementia Subtypes

    NARCIS (Netherlands)

    Appelhof, Britt; Bakker, C.; Van Duinen-van den Ijssel, Jeannette C L; Zwijsen, Sandra A; Smalbrugge, Martin; Verhey, Frans R. J.; de Vugt, Marjolein E; Zuidema, Sytse U.; Koopnnans, Raymond T. C. M.

    Aims: The aims of this study are to (1) explore the determinants of quality of life (QoL) in nursing home residents with young-onset dementia (YOD), (2) investigate whether there are differences between dementia subtypes (Alzheimer dementia, vascular/mixed dementia, frontotemporal dementia, other)

  12. Genetics Home Reference: inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions IBMPFD Inclusion body myopathy with early-onset Paget disease and ... Javascript to view the expand/collapse boxes. Description Inclusion body myopathy with early-onset Paget disease and ...

  13. Bilingualism as a protection against the onset of symptoms of dementia.

    Science.gov (United States)

    Bialystok, Ellen; Craik, Fergus I M; Freedman, Morris

    2007-01-28

    This study examined the effect of lifelong bilingualism on maintaining cognitive functioning and delaying the onset of symptoms of dementia in old age. The sample was selected from the records of 228 patients referred to a Memory Clinic with cognitive complaints. The final sample consisted of 184 patients diagnosed with dementia, 51% of whom were bilingual. The bilinguals showed symptoms of dementia 4 years later than monolinguals, all other measures being equivalent. Additionally, the rate of decline in Mini-Mental State Examination (MMSE) scores over the 4 years subsequent to the diagnosis was the same for a subset of patients in the two groups, suggesting a shift in onset age with no change in rate of progression.

  14. Dementia syndrome and the onset of mind

    International Nuclear Information System (INIS)

    Matsuzawa, Taiju; Meguro, Kenichi; Ueda, Masamichi; Matsui, Hiroshige

    1988-01-01

    The present report is designed to make clear the mechanism of dementia syndrome and the onset area of the mind. The plan of the statistic studies with X-CT, MRI and PET to find out the focus of dementia in the cortex was an absolute failure. A large number of patients having infarction of varying numbers and sizes in the cortex was neuropsychologically normal. With MRI, quantitative changes of atrophy and destruction were observed in the amygdaloid and hippocampal system bilaterally in both multiinfarct dementia (MID) and Alzheimer disease (AD) patients. With PET, the activity or excitability of the cortices was estimated by measuring the glucose utilization with 18 F-2-fluorodeoxyglucose in response to musical stimulation (a Japanese popular song entitled Sakura, Sakura=cherry blossoms, cherry blossoms) while having the eyes closed, (1) Not only normal volunteers but also with cases of MID and AD, the primary sensory and motor areas were stimulated. (2) In cases of MID and AD, the glucose utilization, was reduced drastically in the bilateral temporal and parietal association cortices. The impulses from all the primary sensory areas drain into the amygdala. Furthermore the impulses from the amygdala drain directly or indirectly into the hippocampus, and the impulses flow into the temporal cortex. Recognition may take place in this temporal cortex. Then, the impulses come to the parietal cortex. Conception may be completed there. Any damage to the amygdaloid and hippocampal system would result in abnormalities in memory, recognition, conception and various emotions. This is a possible mechanism of dementia syndrome. In view of this data the system also can be said to be the onset area of the mind. (author)

  15. Dementia syndrome and the onset of mind

    Energy Technology Data Exchange (ETDEWEB)

    Matsuzawa, Taiju; Meguro, Kenichi; Ueda, Masamichi; Matsui, Hiroshige

    1988-12-01

    The present report is designed to make clear the mechanism of dementia syndrome and the onset area of the mind. The plan of the statistic studies with X-CT, MRI and PET to find out the focus of dementia in the cortex was an absolute failure. A large number of patients having infarction of varying numbers and sizes in the cortex was neuropsychologically normal. With MRI, quantitative changes of atrophy and destruction were observed in the amygdaloid and hippocampal system bilaterally in both multiinfarct dementia (MID) and Alzheimer disease (AD) patients. With PET, the activity or excitability of the cortices was estimated by measuring the glucose utilization with /sup 18/F-2-fluorodeoxyglucose in response to musical stimulation (a Japanese popular song entitled Sakura, Sakura=cherry blossoms, cherry blossoms) while having the eyes closed, (1) Not only normal volunteers but also with cases of MID and AD, the primary sensory and motor areas were stimulated. (2) In cases of MID and AD, the glucose utilization, was reduced drastically in the bilateral temporal and parietal association cortices. The impulses from all the primary sensory areas drain into the amygdala. Furthermore the impulses from the amygdala drain directly or indirectly into the hippocampus, and the impulses flow into the temporal cortex. Recognition may take place in this temporal cortex. Then, the impulses come to the parietal cortex. Conception may be completed there. Any damage to the amygdaloid and hippocampal system would result in abnormalities in memory, recognition, conception and various emotions. This is a possible mechanism of dementia syndrome. In view of this data the system also can be said to be the onset area of the mind. (author).

  16. Bilingualism delays the onset of behavioral but not aphasic forms of frontotemporal dementia.

    Science.gov (United States)

    Alladi, Suvarna; Bak, Thomas H; Shailaja, Mekala; Gollahalli, Divyaraj; Rajan, Amulya; Surampudi, Bapiraju; Hornberger, Michael; Duggirala, Vasanta; Chaudhuri, Jaydip Ray; Kaul, Subhash

    2017-05-01

    Bilingualism has been found to delay onset of dementia and this has been attributed to an advantage in executive control in bilinguals. However, the relationship between bilingualism and cognition is complex, with costs as well as benefits to language functions. To further explore the cognitive consequences of bilingualism, the study used Frontotemporal dementia (FTD) syndromes, to examine whether bilingualism modifies the age at onset of behavioral and language variants of Frontotemporal dementia (FTD) differently. Case records of 193 patients presenting with FTD (121 of them bilingual) were examined and the age at onset of the first symptoms were compared between monolinguals and bilinguals. A significant effect of bilingualism delaying the age at onset of dementia was found in behavioral variant FTD (5.7 years) but not in progressive nonfluent aphasia (0.7 years), semantic dementia (0.5 years), corticobasal syndrome (0.4 years), progressive supranuclear palsy (4.3 years) and FTD-motor neuron disease (3 years). On dividing all patients predominantly behavioral and predominantly aphasic groups, age at onset in the bilingual behavioral group (62.6) was over 6 years higher than in the monolingual patients (56.5, p=0.006), while there was no difference in the aphasic FTD group (60.9 vs. 60.6 years, p=0.851). The bilingual effect on age of bvFTD onset was shown independently of other potential confounding factors such as education, gender, occupation, and urban vs rural dwelling of subjects. To conclude, bilingualism delays the age at onset in the behavioral but not in the aphasic variants of FTD. The results are in line with similar findings based on research in stroke and with the current views of the interaction between bilingualism and cognition, pointing to advantages in executive functions and disadvantages in lexical tasks. Copyright © 2017 Elsevier Ltd. All rights reserved.

  17. Late- versus early-onset geriatric depression in a memory research center

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    Carol Dillon

    2009-10-01

    Full Text Available Carol Dillon1, Ricardo F Allegri2, Cecilia M Serrano1, Mónica Iturry1, Pablo Salgado1, Frank B Glaser1, Fernando E Taragano21Memory Research Center, Department of Neurology, Hospital General Abel Zubizarreta, GCBA Buenos Aires, Argentina; 2Department of Neuropsychology (SIREN, CEMIC University, Buenos Aires, ArgentinaObjective: To contrast early-onset (<60 years and late-onset (>60 years depression in geriatric patients by evaluating differences in cognition, vascular comorbidity and sociological risk factors. Both patient groups were compared with normal subjects.Materials and methods: We recruited 76 patients with depressive symptoms (37 late onset and 39 early onset and 17 normal controls matched by age and educational level. All subjects were assessed using a semistructured neuropsychiatric interview and an extensive neuropsychological battery. Vascular and sociological risk factors were also evaluated.Results: We found a significant variation in performance between depressive patients and normal controls in most cognitive functions, especially memory (P < 0.0001, semantic fluency (P < 0.0001, verbal fluency, and digit-symbol (P < 0.0001. Late-onset depression patients scored lower and exhibited more severe impairment in memory domains than early-onset depression patients (P < 0.05. Cholesterol levels and marital status were significantly (P < 0.05 different between the depressive groups. Both depressed groups (early- and lateonset were more inactive than controls (P < 0.05; odds ratio: 6.02.Conclusion: Geriatric depression may be a manifestation of brain degeneration, and the initial symptom of a dementia. It is important to consider this in the treatment of patients that exhibit late-onset depressive symptoms.Keywords: early- and late-onset depression, geriatrics, cognition

  18. Family Caregivers' Experiences of Caring for a Relative With Younger Onset Dementia: A Qualitative Systematic Review.

    Science.gov (United States)

    Cabote, Christy Joy; Bramble, Marguerite; McCann, Damhnat

    2015-08-01

    Family caregiving for people with younger onset dementia affects everyone in the family unit. This article presents findings of a qualitative systematic review exploring the experiences of family caregivers of persons with younger onset dementia. A systematic search resulted in the inclusion of five relevant articles, and two groups within the family unit were identified-child caregivers and adult and spousal caregivers. Using the thematic synthesis approach, five themes emerged: dementia damage, grief for loss of relationship, changes in family roles, positive and negative impacts of family caregiving, and transition to formal care. The review findings support increasing evidence that despite the stress of caring for a person with dementia damage, family members have the capacity to cope, adapt, and grow through their experiences. Nurses can assist families to identify their unique strengths and enhance family resiliency so they can navigate the "lonely road" of younger onset dementia. © The Author(s) 2015.

  19. Association between late-onset depression and incident dementia in Chinese older persons.

    Science.gov (United States)

    Tam, C W C; Lam, L C W

    2013-12-01

    OBJECTIVE. Previous studies have shown that depression is a precursor / prodrome or susceptible state for the development of dementia. This study aimed to examine the relationship between late-onset depression and subsequent cognitive and functional decline in a cohort of non-demented older Chinese persons at their 2-year follow-up and investigate for possible predictors of cognitive decline. METHODS. A total of 81 depressed subjects and 468 non-depressed community controls were recruited. RESULTS. Subjects with late-onset depression showed significantly more incident Clinical Dementia Rating (CDR) scale decline (odds ratio = 3.87, 95% confidence interval = 2.23-6.70) and dementia (odds ratio = 3.44, 95% confidence interval = 1.75-6.77) than those without depression. A higher proportion of depressed CDR 0 subjects had CDR and functional decline than their non-depressed counterparts. Depressed CDR 0.5 subjects had significantly higher rates of functional decline and lower rates of improvement in CDR than their non-depressed counterparts. CONCLUSION. Diagnosis of depression was a robust predictor of incident very mild dementia (i.e. CDR of 0.5) and depression severity was a predictor of progression to dementia from CDR of 0.5. The association between depression and the risk of CDR decline and dementia was observed in non-demented Chinese subjects. Depression was also associated with persistent mild cognitive deficits in CDR 0.5 subjects.

  20. Differences of neuroimaging between early-onset and late-onset alzheimer-type dementia

    International Nuclear Information System (INIS)

    Hanyu, Haruo; Nakano, Seigo; Abe, Shin'e; Arai, Hisayuki; Iwamoto, Toshihiko; Takasaki, Masaru

    1995-01-01

    Several studies have shown that the symptomatology and the neuropathological and neurochemical changes of early-onset Alzheimer's disease (EAD) differ from those of late-onset Alzheimer's disease (LAD). The aim of the present study is to examine differences in SPECT and MRI findings between EAD and LAD. Cerebral blood flow and patterns on SPECT, and deep white matter lesions and cerebral atrophy on MRI in 17 patients with EAD were compared with 30 patients with LAD without cerebrovascular risk factors. Temporoparietal activity ratio, divided by cerebellum, on SPECT imaging in patients with EAD was significantly lower than in patients with LAD. In a qualitative assessment of perfusion patterns, bilateral temporoparietal hypoperfusion, which is typical in AD, was seen more frequently in patients with EAD than in those with LAD. Among white matter changes in MRI, the score of white matter hyperintensity was significantly higher in LAD than in EAD patients. However, there was no significant difference between periventricular hyperintensity scores. Though ventricular enlargement did not differ significantly in EAD and LAD, cortical atrophy scores in LAD were significantly higher than in EAD. Cortical atrophy scores were significantly higher in patients with atypical perfusion patterns on SPECT (e.g. global hypoperfusion in addition to temporoparietal change) than in patients with typical perfusion pattern. These results indicate that functional and morphological imagings in LAD differ with those in EAD, probably due to less-prominent neuropathological degeneration combined with age-related alterations. (author)

  1. Differences of neuroimaging between early-onset and late-onset alzheimer-type dementia

    Energy Technology Data Exchange (ETDEWEB)

    Hanyu, Haruo; Nakano, Seigo; Abe, Shin` e; Arai, Hisayuki; Iwamoto, Toshihiko; Takasaki, Masaru [Tokyo Medical Coll. (Japan)

    1995-10-01

    Several studies have shown that the symptomatology and the neuropathological and neurochemical changes of early-onset Alzheimer`s disease (EAD) differ from those of late-onset Alzheimer`s disease (LAD). The aim of the present study is to examine differences in SPECT and MRI findings between EAD and LAD. Cerebral blood flow and patterns on SPECT, and deep white matter lesions and cerebral atrophy on MRI in 17 patients with EAD were compared with 30 patients with LAD without cerebrovascular risk factors. Temporoparietal activity ratio, divided by cerebellum, on SPECT imaging in patients with EAD was significantly lower than in patients with LAD. In a qualitative assessment of perfusion patterns, bilateral temporoparietal hypoperfusion, which is typical in AD, was seen more frequently in patients with EAD than in those with LAD. Among white matter changes in MRI, the score of white matter hyperintensity was significantly higher in LAD than in EAD patients. However, there was no significant difference between periventricular hyperintensity scores. Though ventricular enlargement did not differ significantly in EAD and LAD, cortical atrophy scores in LAD were significantly higher than in EAD. Cortical atrophy scores were significantly higher in patients with atypical perfusion patterns on SPECT (e.g. global hypoperfusion in addition to temporoparietal change) than in patients with typical perfusion pattern. These results indicate that functional and morphological imagings in LAD differ with those in EAD, probably due to less-prominent neuropathological degeneration combined with age-related alterations. (author).

  2. Resting state functional connectivity differences between behavioral variant frontotemporal dementia and Alzheimer's disease

    NARCIS (Netherlands)

    A. Hafkemeijer (Anne); C. Möller (Christiane); E.G.P. Dopper (Elise); L.C. Jiskoot (Lize); T.M. Schouten (Tijn M.); J.C. van Swieten (John); W.M. van der Flier (Wiesje); H. Vrenken (Hugo); Y. Pijnenburg (Yolande); F. Barkhof (Frederik); P. Scheltens (Philip); J. van der Grond (Jeroen); S.A.R.B. Rombouts (Serge)

    2015-01-01

    textabstractIntroduction: Alzheimer's disease (AD) and behavioral variant frontotemporal dementia (bvFTD) are the most common types of early-onset dementia. Early differentiation between both types of dementia may be challenging due to heterogeneity and overlap of symptoms. Here, we apply resting

  3. The pattern of cognitive symptoms predicts time to dementia onset.

    NARCIS (Netherlands)

    Sacuiu, S.; Gustafson, D.; Johansson, B.; Thorvaldsson, V.; Berg, S.; Sjogren, J.M.C.; Guo, X.; Ostling, S.; Skoog, I.

    2009-01-01

    BACKGROUND: Few studies have examined whether cognitive symptom patterns differ by age and length of time before dementia onset. Our objective was to investigate whether different patterns of cognitive symptoms at ages 70, 75, and 79 years predict short-term (< or =5 years) and long-term (>5 years)

  4. Screening of Early and Late Onset Alzheimer's Disease Genetic Risk Factors in a Cohort of Dementia Patients from Liguria, Italy.

    Science.gov (United States)

    Ferrari, Raffaele; Ferrara, Michela; Alinani, Anwar; Sutton, Roger Brian; Famà, Francesco; Picco, Agnese; Rodriguez, Guido; Nobili, Flavio; Momeni, Parastoo

    2015-01-01

    Cohorts from a defined geographical area enable ad hoc genotype-phenotype correlation studies providing novel and unique insight into disease. We analysed genetic risk factors associated with early and late onset Alzheimer's disease (EOAD and LOAD) in a population from Liguria (northern Italy), as part of an ongoing longitudinal study. We screened 37 AD, 8 mild cognitive impairment (MCI), 3 AD and CVD (cerebrovascular disease), 3 MCI and CVD, 8 frontotemporal dementia (FTD) and 2 progressive supranuclear palsy (PSP) patients, and 28 normal controls (NCs).We sequenced PSEN1, PSEN2 and APP (EOAD risk factors), as well as MAPT, GRN and TARDBP for all cases and NCs, and analysed the APOE, CLU, CR1 and PICALM genotypes as well as the MAPT and ACE haplotypes (LOAD risk factors) for the AD (n = 37) and AD + MCI (n = 45) cases and NCs (n = 28).We identified variants in PSEN1, PSEN2 and TARDBP across a range of phenotypes (AD, AD and CVD, FTD and PSP), suggesting that screening of all known candidate genes of Alzheimer's and non-Alzheimer's forms of dementias in all dementia cases might be warranted. The analysis of the LOAD risk factors revealed no association with AD or AD + MCI status after Bonferroni correction. Lack of association with APOE is supported by previous studies in the Italian population. Our data also evidenced: 1) a potentially protective haplotype at the PSEN2 locus; 2) a nominal association with the GWAS-risk allele A for rs3818361 in CR1 and; 3) a threefold prevalence of AD in the female population compared to men.Our results will need to be further assessed and confirmed in larger cohorts from this area. 

  5. Living with early-stage dementia: a review of qualitative studies.

    Science.gov (United States)

    Steeman, Els; de Casterlé, Bernadette Dierckx; Godderis, Jan; Grypdonck, Mieke

    2006-06-01

    This paper presents a literature review whose aim was to provide better understanding of living with early-stage dementia. Even in the early stages, dementia may challenge quality of life. Research on early-stage dementia is mainly in the domain of biomedical aetiology and pathology, providing little understanding of what it means to live with dementia. Knowledge of the lived experience of having dementia is important in order to focus pro-active care towards enhancing quality of life. Qualitative research is fundamentally well suited to obtaining an insider's view of living with early-stage dementia. We performed a meta-synthesis of qualitative research findings. We searched MEDLINE, CINAHL, and PsycINFO and reviewed the papers cited in the references of pertinent articles, the references cited in a recently published book on the subjective experience of dementia, one thesis, and the journal Dementia. Thirty-three pertinent articles were identified, representing 28 separate studies and 21 different research samples. Findings were coded, grouped, compared and integrated. Living with dementia is described from the stage a person discovers the memory impairment, through the stage of being diagnosed with dementia, to that of the person's attempts to integrate the impairment into everyday life. Memory loss often threatens perceptions of security, autonomy and being a meaningful member of society. At early stages of memory loss, individuals use self-protecting and self-adjusting strategies to deal with perceived changes and threats. However, the memory impairment itself may make it difficult for an individual to deal with these changes, thereby causing frustration, uncertainty and fear. Our analysis supports the integration of proactive care into the diagnostic process, because even early-stage dementia may challenge quality of life. Moreover, this care should actively involve both the individual with dementia and their family so that both parties can adjust positively

  6. Associations of cerebrovascular metabolism genotypes with neuropsychiatric symptoms and age at onset of Alzheimer’s disease dementia

    Directory of Open Access Journals (Sweden)

    Fabricio F. de Oliveira

    Full Text Available Objective: To study associations of cerebrovascular metabolism genotypes and haplotypes with age at Alzheimer’s disease dementia (AD onset and with neuropsychiatric symptoms according to each dementia stage. Methods: Consecutive outpatients with late-onset AD were assessed for age at dementia onset and Neuropsychiatric Inventory scores according to Clinical Dementia Rating scores, apolipoprotein E gene (APOE haplotypes, angiotensin-converting enzyme gene (ACE variants rs1800764 and rs4291, low-density lipoprotein cholesterol receptor gene (LDLR variants rs11669576 and rs5930, cholesteryl ester transfer protein gene (CETP variants I422V and TaqIB, and liver X receptor beta gene (NR1H2 polymorphism rs2695121. Results: Considering 201 patients, only APOE-ɛ4 carriers had earlier dementia onset in multiple correlations, as well as less apathy, more delusions, and more aberrant motor behavior. Both ACE polymorphisms were associated with less intense frontally mediated behaviors. Regarding LDLR variants, carriers of the A allele of rs11669576 had less anxiety and more aberrant motor behavior, whereas carriers of the A allele of rs5930 had less delusions, less anxiety, more apathy, and more irritability. CETP variants that included G alleles of I422V and TaqIB were mostly associated with less intense frontally mediated behaviors, while severely impaired carriers of the T allele of rs2695121 had more anxiety and more aberrant motor behavior. Conclusion: Though only APOE haplotypes affected AD onset, cerebrovascular metabolism genotypes were associated with differences in several neuropsychiatric manifestations of AD.

  7. Tau-PET Binding Distinguishes Patients With Early-stage Posterior Cortical Atrophy From Amnestic Alzheimer Disease Dementia.

    Science.gov (United States)

    Day, Gregory S; Gordon, Brian A; Jackson, Kelley; Christensen, Jon J; Rosana Ponisio, Maria; Su, Yi; Ances, Beau M; Benzinger, Tammie L S; Morris, John C

    2017-01-01

    Flortaucipir (tau) positron emission tomography (PET) binding distinguishes individuals with clinically well-established posterior cortical atrophy (PCA) due to Alzheimer disease (AD) from cognitively normal (CN) controls. However, it is not known whether tau-PET binding patterns differentiate individuals with PCA from those with amnestic AD, particularly early in the symptomatic stages of disease. Flortaucipir and florbetapir (β-amyloid) PET imaging were performed in individuals with early-stage PCA (N=5), amnestic AD dementia (N=22), and CN controls (N=47). Average tau and β-amyloid deposition were quantified using standard uptake value ratios and compared at a voxelwise level, controlling for age. PCA patients [median age-at-onset, 59 (51 to 61) years] were younger at symptom onset than similarly staged individuals with amnestic AD [75 (60 to 85) years] or CN controls [73 (61 to 90) years; P=0.002]. Flortaucipir uptake was higher in individuals with early-stage symptomatic PCA versus those with early-stage amnestic AD or CN controls, and greatest in posterior regions. Regional elevations in florbetapir were observed in areas of greatest tau deposition in PCA patients. Flortaucipir uptake distinguished individuals with PCA and amnestic AD dementia early in the symptomatic course. The posterior brain regions appear to be uniquely vulnerable to tau deposition in PCA, aligning with clinical deficits that define this disease subtype.

  8. Tau PET binding distinguishes patients with early-stage posterior cortical atrophy from amnestic Alzheimer disease dementia

    Science.gov (United States)

    Day, Gregory S.; Gordon, Brian A.; Jackson, Kelley; Christensen, Jon J.; Ponisio, Maria Rosana; Su, Yi; Ances, Beau M; Benzinger, Tammie L.S.; Morris, John C.

    2017-01-01

    Background Flortaucipir (tau) PET binding distinguishes individuals with clinically well-established posterior cortical atrophy (PCA) due to Alzheimer disease (AD) from cognitively normal (CN) controls. However, it is not known whether tau PET binding patterns differentiate individuals with PCA from those with amnestic AD, particularly early in the symptomatic stages of disease. Methods Flortaucipir and florbetapir (β-amyloid) PET-imaging were performed in individuals with early-stage PCA (N=5), amnestic AD dementia (N=22), and CN controls (N=47). Average tau and β-amyloid deposition were quantified using standard uptake value ratios and compared at a voxel-wise level, controlling for age. Results PCA patients (median age-at-onset, 59 [51–61] years) were younger at symptom-onset than similarly-staged individuals with amnestic AD (75 [60–85] years) or CN controls (73 [61–90] years; p=0.002). Flortaucipir uptake was higher in individuals with early-stage symptomatic PCA versus those with early-stage amnestic AD or CN controls, and greatest in posterior regions. Regional elevations in florbetapir were observed in areas of greatest tau deposition in PCA patients. Conclusions and Relevance Flortaucipir uptake distinguished individuals with PCA and amnestic AD dementia early in the symptomatic course. The posterior brain regions appear to be uniquely vulnerable to tau deposition in PCA, aligning with clinical deficits that define this disease subtype. PMID:28394771

  9. Severe agitation in severe early-onset Alzheimer’s disease resolves with ECT

    Directory of Open Access Journals (Sweden)

    Aksay SS

    2014-11-01

    Full Text Available Suna Su Aksay, Lucrezia Hausner, Lutz Frölich, Alexander Sartorius Department of Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany Abstract: Dementia-related behavioral disturbances are mostly treated with antipsychotics; however, the observed beneficial effects are modest and the risk of serious adverse effects high. We report the case of a 57-year-old woman with severe early-onset Alzheimer’s disease and severe agitation, whom we treated with electroconvulsive therapy (ECT. A significant clinical improvement was achieved over eight ECT sessions, which were tolerated well without cognitive worsening, and lasted approximately 3 months. Our case demonstrates the safe and effective use of ECT in pharmacotherapy-resistant severe agitation in Alzheimer’s disease. The risk–benefit profile of ECT for dementia-related agitation should be further investigated in clinical trials. Keywords: dementia, electroconvulsive therapy, cognition, emotional distress, disinhibition.

  10. An additive effect of leading role in the organization between social participation and dementia onset among Japanese older adults: the AGES cohort study.

    Science.gov (United States)

    Nemoto, Yuta; Saito, Tami; Kanamori, Satoru; Tsuji, Taishi; Shirai, Kokoro; Kikuchi, Hiroyuki; Maruo, Kazushi; Arao, Takashi; Kondo, Katsunori

    2017-12-29

    Several previous studies reported social participation may reduce the incident of dementia; therefore, the type of positions held in the organization may relate to dementia onset. However, this hypothesis remains largely unknown. The purpose of the present study was to examine the additive effect of a leadership position in the organization on dementia onset and social participation among elderly people in a local community, according to data from a Japanese older adults cohort study. Of 29,374 community-dwelling elderly, a total of 15,313 subjects responded to the baseline survey and were followed-up from November 2003 to March 2013. To evaluate the association between dementia onset and social participation as well as the role in the organization, we conducted Cox proportional hazard regression analysis with multiple imputation by age group (aged 75 years older or younger). The dependent variable was dementia onset, which was obtained from long-term care insurance data in Japan; independent variables were social participation and the role in the organization to which they belonged (head, manager, or treasurer). Covariates were sex, age, educational level, marriage status, job status, residence status, alcohol consumption, smoking status, and walking time, instrumental activities of daily living, depression, and medical history. During the follow-up period, 708 young-old elderly people (7.7%) and 1289 old-old elderly people (27.9%) developed dementia. In young-old elderly, relative to social non-participants, adjusted Hazard Ratio (HR) for dementia onset for participants (regular members + leadership positions) was 0.75 (95% confidence interval (CI), 0.64-0.88). Relative to regular members, adjusted HR for dementia onset for non-participants was 1.22 (95% CI, 1.02-1.46), for leadership positions 0.81 (95% CI, 0.65-0.99). The results for old-old elderly participants did not show that any significantly adjusted HR between dementia onset and social participation

  11. Depression and the risk for dementia.

    Science.gov (United States)

    Kessing, Lars Vedel

    2012-11-01

    Depression is associated with increased risk of subsequent development of dementia; however, the nature of the association is still poorly understood. The purpose of the review was based on recent studies to discuss whether depression is a prodromal state of dementia or an independent risk factor for dementia, as well as to discuss how the type of depression, the type of dementia, and antidepressant treatment influence the association. Findings from recent studies suggest that some forms of depressive illness, for example early-onset depression before age 65 years and recurrent depression, may constitute long-term risk factors for development of dementia, whereas the onset of more recent depressive symptoms may reflect a prodromal phase of dementia. It is not clear whether specific subtypes of depression correspond to specific types of dementia. Recent studies suggest that long-term treatment with antidepressants may decrease the risk of developing some types of dementia, depending on the type of depressive disorder. This review has shown that the type of depression and dementia, as well as the effect of drug treatment, has to be considered to improve knowledge on the association between depression and dementia.

  12. Disease awareness may increase risk of suicide in young onset dementia: A case report

    Directory of Open Access Journals (Sweden)

    Maria Alice Tourinho Baptista

    Full Text Available ABSTRACT Studies report that people with young onset Alzheimer's disease (YOAD have higher levels of disease awareness compared to those with late onset AD. We report a case of a man with YOAD who had preserved awareness of disease, depression and risk of suicide associated with the development of the dementia. Cognitive functioning, disease severity, depressive symptoms and awareness of disease were assessed using validated measures. The person with YOAD showed a moderate level of disease severity and high degree of dependence for activities of daily living. There was recognition of memory problems and routine changes with presence of intense pessimism, low self-esteem and suicidal ideation. This case points to the existence of specific issues related to young onset dementia and the clinical importance of identifying and treating patients who might be aware of their condition.

  13. Early- versus Late-Onset Dysthymia

    Science.gov (United States)

    Sansone, Lori A.

    2009-01-01

    In the current Diagnostic and Statistical Manual of Mental Disorders, dysthymic disorder is categorized as either early-onset or late-onset, based upon the emergence of symptoms before or after the age of 21, respectively. Does this diagnostic distinction have any meaningful clinical implications? In this edition of The Interface, we present empirical studies that have, within a single study, compared individuals with early-versus late-onset dysthymia. In this review, we found that, compared to those with late-onset dysthymia, early-onset patients are more likely to harbor psychiatric comorbidity both on Axis I and II, exhibit less psychological resilience, and have more prominent family loadings for mood disorders. These findings suggest that this distinction is meaningful and that the early-onset subtype of dysthymia is more difficult to effectively treat. PMID:20049145

  14. Early onset type 2 diabetes

    DEFF Research Database (Denmark)

    Bo, A; Thomsen, R W; Nielsen, J S

    2018-01-01

    was more frequent and meeting physical activity recommendations less likely in persons with early-onset type 2 DM. CONCLUSIONS: We found a clear age-gradient, with increasing prevalence of clinical and behavioural risk factors the younger the onset age of type 2 DM. Younger persons with early-onset type 2......AIM: To examine the association between early onset of type 2 diabetes (DM) and clinical and behavioural risk factors for later diabetes complications. METHODS: We conducted a cross-sectional study of 5115 persons with incident type 2 DM enrolled during 2010-2015 in the Danish Centre for Strategic...... Research in Type 2 Diabetes-cohort. We compared risk factors at time of diagnosis among those diagnosed at ≤45 years (early-onset) with diagnosis age 46-55, 56-65 (average-onset = reference), 66-75, and >75 years (late-onset). Prevalence ratios (PRs) were computed using Poisson regression. RESULTS: Poor...

  15. Factor analysis of symptom profile in early onset and late onset OCD.

    Science.gov (United States)

    Grover, Sandeep; Sarkar, Siddharth; Gupta, Gourav; Kate, Natasha; Ghosh, Abhishek; Chakrabarti, Subho; Avasthi, Ajit

    2018-04-01

    This study aimed to assess the factor structure of early and late onset OCD. Additionally, cluster analysis was conducted in the same sample to assess the applicability of the factors. 345 participants were assessed with Yale Brown Obsessive Compulsive Scale symptom checklist. Patients were classified as early onset (onset of symptoms at age ≤ 18 years) and late onset (onset at age > 18 years) OCD depending upon the age of onset of the symptoms. Factor analysis and cluster analysis of early-onset and late-onset OCD was conducted. The study sample comprised of 91 early onset and 245 late onset OCD subjects. Males were more common in the early onset group. Differences in the frequency of phenomenology related to contamination related, checking, repeating, counting and ordering/arranging compulsions were present across the early and late onset groups. Factor analysis of YBOCS revealed a 3 factor solution for both the groups, which largely concurred with each other. These factors were named as hoarding and symmetry (factor-1), contamination (factor-2) and aggressive, sexual and religious factor (factor-3). To conclude this study shows that factor structure of symptoms of OCD seems to be similar between early-onset and late-onset OCD. Copyright © 2017 Elsevier B.V. All rights reserved.

  16. Prevalence of cerebral amyloid pathology in persons without dementia

    DEFF Research Database (Denmark)

    Jansen, Willemijn J; Ossenkoppele, Rik; Knol, Dirk L

    2015-01-01

    IMPORTANCE: Cerebral amyloid-β aggregation is an early pathological event in Alzheimer disease (AD), starting decades before dementia onset. Estimates of the prevalence of amyloid pathology in persons without dementia are needed to understand the development of AD and to design prevention studies...

  17. Behavior and Evolution of Young ONset Dementia part 2 (BEYOND-II) study: an intervention study aimed at improvement in the management of neuropsychiatric symptoms in institutionalized people with young onset dementia

    NARCIS (Netherlands)

    Duinen-van den IJssel, J.C.L. van; Appelhof, B.; Zwijsen, S.A.; Smalbrugge, M.; Verhey, F.R.J.; Vugt, M.E. de; Zuidema, S.U.; Koopmans, R.T.C.M.; Bakker, C.

    2018-01-01

    ABSTRACTBackground:Both neuropsychiatric symptoms (NPS) and psychotropic drug use (PDU) are common in institutionalized People with Young Onset Dementia (PwYOD) and can produce negative outcomes such as reduced quality of life and high workload. In community-dwelling PwYOD, NPS are found to be

  18. Very early-onset schizophrenia with secondary onset tic disorder

    OpenAIRE

    Shilpa A Telgote; Shreyas Shrikant Pendharkar; Amol D Kelkar; Sachin Bhojane

    2017-01-01

    Very early-onset schizophrenia (defined as an onset of psychosis before 13 years of age) is a rare and severe form of the disorder which is clinically and neurobiologically continuous with the adult-onset disorder. It is rarely reported

  19. Very Early-onset Schizophrenia with Secondary Onset Tic Disorder.

    Science.gov (United States)

    Telgote, Shilpa A; Pendharkar, Shreyas Shrikant; Kelkar, Amol D; Bhojane, Sachin

    2017-01-01

    Very early-onset schizophrenia (defined as an onset of psychosis before 13 years of age) is a rare and severe form of the disorder which is clinically and neurobiologically continuous with the adult-onset disorder. It is rarely reported tic disorder.

  20. Driving behaviors in early stage dementia: a study using in-vehicle technology.

    Science.gov (United States)

    Eby, David W; Silverstein, Nina M; Molnar, Lisa J; LeBlanc, David; Adler, Geri

    2012-11-01

    According to the Alzheimer's Association (2011), (1) in 8 people age 65 and older, and about one-half of people age 85 and older, have Alzheimer's disease in the United States (US). There is evidence that drivers with Alzheimer's disease and related dementias are at an increased risk for unsafe driving. Recent advances in sensor, computer, and telecommunication technologies provide a method for automatically collecting detailed, objective information about the driving performance of drivers, including those with early stage dementia. The objective of this project was to use in-vehicle technology to describe a set of driving behaviors that may be common in individuals with early stage dementia (i.e., a diagnosis of memory loss) and compare these behaviors to a group of drivers without cognitive impairment. Seventeen drivers with a diagnosis of early stage dementia, who had completed a comprehensive driving assessment and were cleared to drive, participated in the study. Participants had their vehicles instrumented with a suite of sensors and a data acquisition system, and drove 1-2 months as they would under normal circumstances. Data from the in-vehicle instrumentation were reduced and analyzed, using a set of algorithms/heuristics developed by the research team. Data from the early stage dementia group were compared to similar data from an existing dataset of 26 older drivers without dementia. The early stage dementia group was found to have significantly restricted driving space relative to the comparison group. At the same time, the early stage dementia group (which had been previously cleared by an occupational therapist as safe to drive) drove as safely as the comparison group. Few safety-related behavioral errors were found for either group. Wayfinding problems were rare among both groups, but the early stage dementia group was significantly more likely to get lost. Copyright © 2011 Elsevier Ltd. All rights reserved.

  1. Behavior and Evolution of Young ONset Dementia part 2 (BEYOND-II) study : an intervention study aimed at improvement in the management of neuropsychiatric symptoms in institutionalized people with young onset dementia

    NARCIS (Netherlands)

    van Duinen-van den IJssel, J C L; Appelhof, B; Zwijsen, S A; Smalbrugge, M; Verhey, F R J; de Vugt, M E; Zuidema, S U; Koopmans, R T C M; Bakker, C

    BACKGROUND: Both neuropsychiatric symptoms (NPS) and psychotropic drug use (PDU) are common in institutionalized People with Young Onset Dementia (PwYOD) and can produce negative outcomes such as reduced quality of life and high workload. In community-dwelling PwYOD, NPS are found to be associated

  2. Plasmapheresis Responsive Rapid Onset Dementia with Predominantly Frontal Dysfunction in the Context of Hashimoto’s Encephalopathy

    Directory of Open Access Journals (Sweden)

    Dominique Endres

    2017-10-01

    Full Text Available BackgroundHashimoto’s encephalopathy (HE is a rare immunological neuropsychiatric disorder characterized by increased antithyroid antibodies and mixed neurological and psychiatric symptoms. HE has been previously discussed as a differential diagnosis for rapid progressive dementia. However, most of these patients suffered from additional neurological symptoms, like ataxia or seizures.Case presentationHere, we present the case of a 59-year-old female patient suffering rapid onset dementia with salient frontal executive dysfunction. She developed rapid onset symptoms, including apathy, verbal depletion up to a stuporous state, severe working memory deficits, evidence of primitive reflexes, disturbed Luria’s three-step test, and micturition disorder. Analysis of her cerebrospinal fluid was normal. The serum analyses showed increased antithyroid (antithyroid peroxidase and antithyroglobulin antibodies. In the cerebral magnetic resonance imaging, supratentorial deep and peripheral white matter lesions were found; the electroencephalography showed intermittent slowing, and the [18F]fluorodeoxyglucose positron emission tomography (FDG-PET depicted medial and superior dorsolateral frontal hypometabolism. Several different psychopharmacological therapeutic approaches with various neuroleptics, antidepressants, and high doses of lorazepam were unsuccessful. Due to the organic alterations, including increased antithyroid antibodies, HE was suspected. Against expectations, treatment with high-dose corticosteroids proved to be ineffective and was associated with worsening symptoms. However, escalated treatment with plasmapheresis over 5 days led to significant improvement in all reported symptoms and in psychometric testing. The neuropsychological improvement was stable over a 6-month follow-up period, and the FDG-PET normalized.ConclusionThis case report reveals that (1 HE can mimic rapid onset dementia with predominantly frontal dysfunction; (2 this

  3. Prevalence of Cerebral Amyloid Pathology in Persons Without Dementia A Meta-analysis

    NARCIS (Netherlands)

    Jansen, W.J.; Ossenkoppele, R.; Knol, D.L.; Tijms, B.M.; Scheltens, P.; Verhey, F.R.J.; Visser, P.J.

    2015-01-01

    IMPORTANCE: Cerebral amyloid-β aggregation is an early pathological event in Alzheimer disease (AD), starting decades before dementia onset. Estimates of the prevalence of amyloid pathology in persons without dementia are needed to understand the development of AD and to design prevention studies.

  4. Prevalence of cerebral amyloid pathology in persons without dementia: a meta-analysis

    NARCIS (Netherlands)

    Jansen, W.J.; Ossenkoppele, R.; Knol, D.L.; Tijms, B.M.; Scheltens, P.J.; Verhey, F.R.J.; Visser, P.J.; Aalten, P.; Aarsland, D.; Alcolea, D.; Alexander, M.; Almdahl, I.S.; Arnold, S.E.; Baldeiras, I.; Barthel, H.; Berckel, B.N. van; Bibeau, K.; Blennow, K.; Brooks, D.J.; Buchem, M.A. van; Camus, V.; Cavedo, E.; Chen, K.; Chetelat, G.; Cohen, A.D.; Drzezga, A.; Engelborghs, S.; Fagan, A.M.; Fladby, T.; Fleisher, A.S.; Flier, W.M. van der; Ford, L.; Forster, S.; Fortea, J.; Foskett, N.; Frederiksen, K.S.; Freund-Levi, Y.; Frisoni, G.B.; Froelich, L.; Gabryelewicz, T.; Gill, K.D.; Gkatzima, O.; Gomez-Tortosa, E.; Gordon, M.F.; Grimmer, T.; Hampel, H.; Hausner, L.; Hellwig, S.; Herukka, S.K.; Hildebrandt, H.; Ishihara, L.; Ivanoiu, A.; Jagust, W.J.; Johannsen, P.; Kandimalla, R.; Kapaki, E.; Klimkowicz-Mrowiec, A.; Klunk, W.E.; Kohler, S.; Koglin, N.; Kornhuber, J.; Kramberger, M.G.; Laere, K. Van; Landau, S.M.; Lee, D.Y.; Leon, M.; Lisetti, V.; Lleo, A.; Madsen, K.; Maier, W.; Marcusson, J.; Mattsson, N.; Mendonca, A. de; Meulenbroek, O.V.; Meyer, P.T.; Mintun, M.A.; Mok, V.; Molinuevo, J.L.; Mollergard, H.M.; Morris, J.C.; Mroczko, B.; Mussele, S. Van der; Na, D.L.; Newberg, A.; Nordberg, A.; Nordlund, A.; Novak, G.P.; Paraskevas, G.P.; Parnetti, L.; Perera, G.; Peters, O.; Popp, J.; Prabhakar, S.; Rabinovici, G.D.; Ramakers, I.H.; Rami, L.; Oliveira, C.R.; Rinne, J.O.; Rodrigue, K.M.; Rodriguez-Rodriguez, E.; Verbeek, M.M.; et al.,

    2015-01-01

    IMPORTANCE: Cerebral amyloid-beta aggregation is an early pathological event in Alzheimer disease (AD), starting decades before dementia onset. Estimates of the prevalence of amyloid pathology in persons without dementia are needed to understand the development of AD and to design prevention

  5. Late onset bipolar disorder and frontotemporal dementia with mutation in progranulin gene: a case report.

    Science.gov (United States)

    Rubino, Elisa; Vacca, Alessandro; Gallone, Salvatore; Govone, Flora; Zucca, Milena; Gai, Annalisa; Ferrero, Patrizia; Fenoglio, Pierpaola; Giordana, Maria Teresa; Rainero, Innocenzo

    2017-11-01

    Bipolar disorder is a chronic psychiatric illness characterised by fluctuation in mood state, with a relapsing and remitting course. Frontotemporal dementia (FTD) is a clinically and genetically heterogeneous syndrome, with the most frequent phenotype being behavioural variant frontotemporal dementia (bvFTD). Here, we report the case of an Italian male presenting with late-onset bipolar disorder that developed into bvFTD over time, carrying a mutation in the GRN gene. Interestingly, the patient carried the c.1639 C > T variant in the GRN gene, resulting in a R547C substitution. Our case report further corroborates the notion that, in addition to FTD, progranulin may be involved in the neurobiology of bipolar disorder type 1, and suggests to screen patients with late-onset bipolar disorder for GRN mutations.

  6. Early- versus Late-Onset Systemic Sclerosis

    Science.gov (United States)

    Alba, Marco A.; Velasco, César; Simeón, Carmen Pilar; Fonollosa, Vicent; Trapiella, Luis; Egurbide, María Victoria; Sáez, Luis; Castillo, María Jesús; Callejas, José Luis; Camps, María Teresa; Tolosa, Carles; Ríos, Juan José; Freire, Mayka; Vargas, José Antonio; Espinosa, Gerard

    2014-01-01

    Abstract Peak age at onset of systemic sclerosis (SSc) is between 20 and 50 years, although SSc is also described in both young and elderly patients. We conducted the present study to determine if age at disease onset modulates the clinical characteristics and outcome of SSc patients. The Spanish Scleroderma Study Group recruited 1037 patients with a mean follow-up of 5.2 ± 6.8 years. Based on the mean ± 1 standard deviation (SD) of age at disease onset (45 ± 15 yr) of the whole series, patients were classified into 3 groups: age ≤30 years (early onset), age between 31 and 59 years (standard onset), and age ≥60 years (late onset). We compared initial and cumulative manifestations, immunologic features, and death rates. The early-onset group included 195 patients; standard-onset group, 651; and late-onset, 191 patients. The early-onset group had a higher prevalence of esophageal involvement (72% in early-onset compared with 67% in standard-onset and 56% in late-onset; p = 0.004), and myositis (11%, 7.2%, and 2.9%, respectively; p = 0.009), but a lower prevalence of centromere antibodies (33%, 46%, and 47%, respectively; p = 0.007). In contrast, late-onset SSc was characterized by a lower prevalence of digital ulcers (54%, 41%, and 34%, respectively; p < 0.001) but higher rates of heart conduction system abnormalities (9%, 13%, and 21%, respectively; p = 0.004). Pulmonary hypertension was found in 25% of elderly patients and in 12% of the youngest patients (p = 0.010). After correction for the population effects of age and sex, standardized mortality ratio was shown to be higher in younger patients. The results of the present study confirm that age at disease onset is associated with differences in clinical presentation and outcome in SSc patients. PMID:24646463

  7. Early dementia diagnosis and the risk of suicide and euthanasia.

    Science.gov (United States)

    Draper, Brian; Peisah, Carmelle; Snowdon, John; Brodaty, Henry

    2010-01-01

    Diagnosis of dementia is occurring earlier, and much research concerns the identification of predementia states and the hunt for biomarkers of Alzheimer's disease. Reports of suicidal behavior and requests for euthanasia in persons with dementia may be increasing. We performed a selective literature review of suicide risk in persons with dementia and the ethical issues associated with euthanasia in this population. In the absence of any effective treatments for Alzheimer's disease or other types of dementia, there is already evidence that persons with mild cognitive change and early dementia are at risk of suicidal behavior, often in the context of comorbid depression. The ensuing clinical, ethical, and legal dilemmas associated with physician-assisted suicide and euthanasia in the context of dementia are a subject of intense debate. By analogy, the preclinical and early diagnoses of Huntington's disease are associated with an increased risk of suicidal behavior. Thus there is the potential for a preclinical and early diagnosis of Alzheimer's disease (through biomarkers, neuroimaging, and clinical assessment) to result in increased suicide risk and requests for physician-assisted suicide. Although dementia specialists have long recognized the importance of a sensitive approach to conveying bad news to patients and families and the possibility of depressive reactions, suicidal behavior has not been regarded as a likely outcome. Such preconceptions will need to change, and protocols to monitor and manage suicide risk will need to be developed for this population. 2010 The Alzheimer's Association. Published by Elsevier Inc. All rights reserved.

  8. Influence of hope, social support, and self-esteem in early stage dementia.

    Science.gov (United States)

    Cotter, Valerie T; Gonzalez, Elizabeth W; Fisher, Kathleen; Richards, Kathy C

    2018-02-01

    Background People in the early stages of dementia adjust to the illness through stages of awareness, coping, and evaluation. Studies have found that hope, social support, and self-esteem facilitate coping, adjustment, and adaptation in chronic illness. Objective The purpose of this descriptive study was to examine the relationships between hope, social support, and self-esteem in individuals with early stage dementia. Methods Data were obtained from 53 individuals with early stage dementia. The scores on the Herth Hope Index, Social Support Questionnaire Short-Form, and the State Self-Esteem Scale were analyzed using linear regression. Results Hope was moderately associated with self-esteem ( r = .49, p self-esteem and was a key component in predicting self-esteem. No significant relationship was found between social support and self-esteem. Conclusion Findings suggest that hope may be an important factor to help individuals manage potential threats to self-esteem in the experience of early stage dementia. Strategies to inspire hope and then enhance self-esteem are promising for individuals living with early stage dementia.

  9. Adult-onset phenylketonuria with rapidly progressive dementia and parkinsonism.

    Science.gov (United States)

    Tufekcioglu, Zeynep; Cakar, Arman; Bilgic, Basar; Hanagasi, Hasmet; Gurvit, Hakan; Emre, Murat

    2016-06-01

    Phenylketonuria (PKU) is an autosomal recessive metabolic disorder due to mutations in the phenylalanine hydroxylase (PAH) gene, which converts phenylalanine (PHE) to tyrosine. Although it is principally a childhood disorder, in rare cases, the first signs of PKU may develop in late adulthood resembling common neurological diseases. Here we report a 59-year-old, previously normal functioning man who was admitted with blurred vision, cognitive problems, and gait difficulty that began 8 months before. He had brisk reflexes and left side dominant parkinsonism. His Mini-Mental State Examination (MMSE) score was 25/30, and neuropsychological evaluation revealed a dysexecutive syndrome with simultanagnosia and constructional apraxia. His Clinical Dementia Rating score (CDR) was 1. Cranial MRI revealed bilateral diffuse hyperintense lesions in parietal and occipital white matter in T2, fluid-attenuated inversion recovery, and diffusion weighted images. Diagnostic workup for rapidly progressive dementias was all normal except PHE level which was found to be highly elevated (1075 μmol/L, normal 39-240 μmol/L) with normal tyrosine level (61.20 μmol/L, normal 35-100 μmol/L). Three months after PHE-restricted diet, his cognitive impairment and signs of parkinsonism significantly improved, with MRI scan unchanged. This case demonstrates that late-onset PKU is a rare, treatable cause of rapidly progressive dementia and parkinsonism with certain constellations such as consanguinity and white matter abnormalities (WMAs) in imaging.

  10. Help-seeking intentions for early dementia diagnosis in a sample of Irish adults.

    Science.gov (United States)

    Devoy, Susan; Simpson, Ellen Elizabeth Anne

    2017-08-01

    To identify factors that may increase intentions to seek help for an early dementia diagnosis. Early dementia diagnosis in Ireland is low, reducing the opportunity for intervention, which can delay progression, reduce psychological distress and increase social supports. Using the theory of planned behaviour (TPB), and a mixed methods approach, three focus groups were conducted (N = 22) to illicit attitudes and beliefs about help seeking for an early dementia diagnosis. The findings informed the development of the Help Seeking Intentions for Early Dementia Diagnosis (HSIEDD) questionnaire which was piloted and then administered to a sample of community dwelling adults from Dublin and Kildare (N = 95). Content analysis revealed participants held knowledge of the symptoms of dementia but not about available interventions. Facilitators of help seeking were family, friends and peers alongside well informed health professionals. Barriers to seeking help were a lack of knowledge, fear, loss, stigma and inaccessible services. The quantitative findings suggest the TPB constructs account for almost 28% of the variance in intentions to seek help for an early diagnosis of dementia, after controlling for sociodemographic variables and knowledge of dementia. In the final step of the regression analysis, the main predictors of help seeking were knowledge of dementia and subjective norm, accounting for 6% and 8% of the variance, respectively. Future interventions should aim to increase awareness of the support available to those experiencing early memory problems, and should highlight the supportive role that family, friends, peers and health professionals could provide.

  11. Early-onset Alzheimer's disease: nonamnestic subtypes and type 2 AD.

    Science.gov (United States)

    Mendez, Mario F

    2012-11-01

    Patients with Alzheimer's disease (AD), the most prevalent neurodegenerative dementia, are usually elderly; however, ∼4-5% develop early-onset AD (EOAD) with onset before age 65. Most EOAD is sporadic, but about 5% of patients with EOAD have an autosomal dominant mutation such as Presenilin 1, Presenilin 2, or alterations in the Amyloid Precursor Protein gene. Although most Alzheimer's research has concentrated on older, late-onset AD (LOAD), there is much recent interest and research in EOAD. These recent studies indicate that EOAD is a heterogeneous disorder with significant differences from LOAD. From 22-64% of EOAD patients have a predominant nonamnestic syndrome presenting with deficits in language, visuospatial abilities, praxis, or other non-memory cognition. These nonamnestic patients may differ in several ways from the usual memory or amnestic patients. Patients with nonamnestic EOAD compared to typical amnestic AD have a more aggressive course, lack the apolipoprotein Eɛ4 (APOE ɛ4) susceptibility gene for AD, and have a focus and early involvement of non-hippocampal areas of brain, particularly parietal neocortex. These differences in the EOAD subtypes indicate differences in the underlying amyloid cascade, the prevailing pathophysiological theory for the development of AD. Together the results of recent studies suggest that nonamnestic subtypes of EOAD constitute a Type 2 AD distinct from the usual, typical disorder. In sum, the study of EOAD can reveal much about the clinical heterogeneity, predisposing factors, and neurobiology of this disease. Copyright © 2012 IMSS. Published by Elsevier Inc. All rights reserved.

  12. The ACE Gene Is Associated with Late-Life Major Depression and Age at Dementia Onset in a Population-Based Cohort.

    Science.gov (United States)

    Zettergren, Anna; Kern, Silke; Gustafson, Deborah; Gudmundsson, Pia; Sigström, Robert; Östling, Svante; Eriksson, Elias; Zetterberg, Henrik; Blennow, Kaj; Skoog, Ingmar

    2017-02-01

    Depression and dementia in the elderly have been suggested to share similar risk factors and pathogenetic background, and recently the authors reported that the APOEɛ4 allele is a risk factor for both disorders in the general population. The aim of the present study was to examine the influence of the well-known polymorphisms rs1799752 in the angiotensin-converting enzyme (ACE) and rs5186 in the angiotensin receptor II type 1 (AGTR1) on late-life depression and dementia in a population-based Swedish cohort of older individuals followed over 12 years. In 2000-2001, 900 individuals underwent neuropsychiatric and neuropsychological examinations. Follow-up evaluations were performed in 2005-2006 and 2009-2010, and register data on dementia to 2012 were included. Cross-sectional associations between genotypes/alleles and depression and dementia at baseline and between genotypes/alleles and depression on at least one occasion during the study period and dementia onset to 2012 were investigated. As previously found for rs1799752 in ACE, rs5186 in AGTR1 was associated with dementia at baseline (OR: 3.25 [CI: 1.42-7.06], z = 2.90, p = 0.004). These associations became substantially weaker, or disappeared, when dementia onset to 2012 was included. For rs1799752 this could be explained by a significant association with age at onset (mean: 79.5 [SD: 6.45] years for risk-genotype carriers and 81.7 [SD: 7.12] years for carriers of other genotypes, b = -2.43, t = -2.38, df = 192, p = 0.02). When individuals with major depression on at least one occasion were analyzed, a significant association (OR: 2.14 [95% CI: 1.13-4.20], z = 2.28, p = 0.02), remaining after exclusion of dementia, with rs1799752 in ACE was found. In this population-based sample of older individuals, genetic variations in ACE seem to be important both for late-life major depression and dementia. Copyright © 2017 American Association for Geriatric Psychiatry. Published by

  13. Early onset depression: the relevance of anxiety.

    Science.gov (United States)

    Parker, G; Wilhelm, K; Asghari, A

    1997-01-01

    The aim of this study was to determine risk factors that may differentiate early onset from late onset depression. A non-clinical cohort that had been assessed from 1978 to 1993 at 5 yearly intervals and that had a high prevalence rate of lifetime depression took part in the study. We established an appropriate age cut-off to distinguish early onset (i.e. before 26 years) of major and of minor depression, and examined the relevance of a number of possible determinants of early onset depression assessed over the life of the study. Despite several dimensional measures of depression, self-esteem and personality being considered, they generally failed (when assessed early in the study) to discriminate subsequent early onset depression, with the exception of low masculinity scores being a weak predictor of major and/or minor depression. Early onset depression was strongly predicted, however, by a lifetime episode of a major anxiety disorder, with generalised anxiety being a somewhat stronger and more consistent predictor than panic disorder, agoraphobia and minor anxiety disorders (ie social phobia, simple phobia). The possibility that anxiety may act as a key predispositional factor to early onset depression and to a greater number of depressive episodes is important in that clinical assessment and treatment of any existing anxiety disorder may be a more efficient and useful strategy than focussing primarily on the depressive disorder.

  14. Adverse Housing Conditions and Early-Onset Delinquency.

    Science.gov (United States)

    Jackson, Dylan B; Newsome, Jamie; Lynch, Kellie R

    2017-09-01

    Housing constitutes an important health resource for children. Research has revealed that, when housing conditions are unfavorable, they can interfere with child health, academic performance, and cognition. Little to no research, however, has considered whether adverse housing conditions and early-onset delinquency are significantly associated with one another. This study explores the associations between structural and non-structural housing conditions and delinquent involvement during childhood. Data from the Fragile Families and Child Wellbeing Study (FFCWS) were employed in this study. Each adverse housing condition was significantly associated with early-onset delinquency. Even so, disarray and deterioration were only significantly linked to early delinquent involvement in the presence of health/safety hazards. The predicted probability of early-onset delinquency among children exposed to housing risks in the presence of health/safety hazards was nearly three times as large as the predicted probability of early-onset delinquency among children exposed only to disarray and/or deterioration, and nearly four times as large as the predicted probability of early-onset delinquency among children exposed to none of the adverse housing conditions. The findings suggest that minimizing housing-related health/safety hazards among at-risk subsets of the population may help to alleviate other important public health concerns-particularly early-onset delinquency. Addressing household health/safety hazards may represent a fruitful avenue for public health programs aimed at the prevention of early-onset delinquency. © Society for Community Research and Action 2017.

  15. Involving people with early-stage dementia in qualitative research about their lifeworld perspectives

    DEFF Research Database (Denmark)

    Thoft, Diana Schack

    Involving people with early-stage dementia in qualitative research about their lifeworld perspectives......Involving people with early-stage dementia in qualitative research about their lifeworld perspectives...

  16. Resilience in Caregivers of Partners With Young Onset Dementia: A Concept Analysis.

    Science.gov (United States)

    Kobiske, Karie R; Bekhet, Abir K

    2018-05-01

    Over 200,000 Americans diagnosed with young onset dementia (YOD), dementia diagnosed prior to age 65, are cared for by family members. This can be costly to caregivers' physical and psychological health. Some adapt well to the caregiver role and are said to be resilient. Aim/Question: This paper builds on current understanding of the concept of resilience and applies this to caregivers of partners diagnosed with YOD. Concept analysis. Resilient caregivers exhibit attributes including determination, flexibility, positive thinking, self-efficacy, resourcefulness, social support and spirituality. YOD affects caregiver's health. Much research has been done on interventions for dementia caregivers. These interventions do not necessarily meet the needs of YOD caregivers as they do not account for dynamics in the family. By recognizing what is resiliency in YOD caregivers, interventions can be developed that focus on characteristics that build these attributes. Understanding the concept of resilience related to caregiving for a partner diagnosed with YOD allows for future development, measurement, and evaluation of nursing interventions. Nursing staff are in a strategic position to provide effective interventions to enhance resilience among caregivers of YOD.

  17. Linkage of familial Alzheimer disease to chromosome 14 in two large early-onset pedigrees: effects of marker allele frequencies on lod scores.

    Science.gov (United States)

    Nechiporuk, A; Fain, P; Kort, E; Nee, L E; Frommelt, E; Polinsky, R J; Korenberg, J R; Pulst, S M

    1993-05-01

    Alzheimer disease (AD) is a devastating neurodegenerative disease leading to global dementia. In addition to sporadic forms of AD, familial forms (FAD) have been recognized. Mutations in the amyloid precursor protein (APP) gene on chromosome (CHR) 21 have been shown to cause early-onset AD in a small number of pedigrees. Recently, linkage to markers on CHR 14 has been established in several early-onset FAD pedigrees. We now report lod scores for CHR 14 markers in two large early-onset FAD pedigrees. Pairwise linkage analysis suggested that in these pedigrees the mutation is tightly linked to the loci D14S43 and D14S53. However, assumptions regarding marker allele frequencies had a major and often unpredictable effect on calculated lod scores. Therefore, caution needs to be exercised when single pedigrees are analyzed with marker allele frequencies determined from the literature or from a pool of spouses.

  18. Late onset myoclonic epilepsy in Down syndrome and dementia

    Directory of Open Access Journals (Sweden)

    Annapia Verri

    2012-09-01

    Full Text Available Specific forms of epilepsy may be found at various ages in Down Syndrome (DS and a sharp increase in the incidence of epilepsy with age has been documented. A specific type of myoclonic epilepsy associated with cognitive decline has been reported as “senile myoclonic epilepsy” or “late onset myoclonic epilepsy in DS” (LOMEDS. We report a new case of LOMEDS, documented by clinical and neurophysiological evaluation and psychometric assessment (DSDS and DMR. MF, male, affected by DS, was referred in 2004 at 40 years of age; he had no personal or familial history of epilepsy. Since one year, the patient presented cognitive deterioration, characterized by regression of language abilities, loss of memory, and loss of sphincters control. A brain TC showed mild brainstem and sub-cortical atrophy. In 2006, myoclonic jerks involving upper limbs occurred mainly after awakening. EEG showed a low voltage 8 Hz background activity with diffuse slow activity, intermingled with spikes or polyspikes, persisting during NREM sleep. MF was initially treated with clonazepam and after with topiramate, resulting in partial seizures control. MRI (2008 demonstrated diffuse brain atrophy, associated with marked ventricular enlargement. At the psychometric evaluation, onset of dementia was evident late in 2004, with transition to the middle stage in 2006. Last assessment (2009 showed the clinical signs of a late stage of deterioration, with loss of verbal abilities and autonomous ambulation. Using levetiracetam till 2,000 mg/die, myoclonic jerks decreased but are still present every day after awakening. On the EEG slow and poorly organized background activity with bilateral polyspike-wave discharges was recorded. Therefore, we documented a parallel progression of dementia and myoclonic epilepsy in a DS subject.

  19. Drawing Disorders in Alzheimer's Disease and Other Forms of Dementia.

    Science.gov (United States)

    Trojano, Luigi; Gainotti, Guido

    2016-04-21

    Drawing is a multicomponential process that can be impaired by many kinds of brain lesions. Drawing disorders are very common in Alzheimer's disease and other forms of dementia, and can provide clinical information for the distinction of the different dementing diseases. In our review we started from an overview of the neural and cognitive bases of drawing, and from a recollection of the drawing tasks more frequently used for assessing individuals with dementia. Then, we analyzed drawing disorders in dementia, paying special attention to those observed in Alzheimer's disease, from the prodromal stages of the amnesic mild cognitive impairment to the stages of full-blown dementia, both in the sporadic forms with late onset in the entorhino-hippocampal structures and in those with early onset in the posterior neocortical structures. We reviewed the drawing features that could differentiate Alzheimer's disease from vascular dementia and from the most frequent forms of degenerative dementia, namely frontotemporal dementia and Lewy body disease. Finally, we examined some peculiar aspects of drawing disorders in dementia, such as perseverations, rotations, and closing-in. We argue that a careful analysis of drawing errors helps to differentiate the different forms of dementia more than overall accuracy in drawing.

  20. Depression with melancholic features is associated with higher long-term risk for dementia.

    Science.gov (United States)

    Simões do Couto, Frederico; Lunet, Nuno; Ginó, Sandra; Chester, Catarina; Freitas, Vanda; Maruta, Carolina; Figueira, Maria Luísa; de Mendonça, Alexandre

    2016-09-15

    Depression has been reported to increase the risk of subsequently developing dementia, but the nature of this relation remains to be elucidated. Depression can be a prodrome/manifestation of dementia or an early risk factor, and the effect may differ according to depression subtypes. Our aim was to study the association between early-onset depression and different depression subtypes, and the later occurrence of dementia. We conducted a cohort study including 322 subjects with depression, recruited between 1977 and 1984. A comparison cohort (non-exposed) was recruited retrospectively, to include 322 subjects admitted at the same hospital for routine surgery (appendicectomy or cholecystectomy), at the same period as the depressed cohort. Subjects were contacted again between 2009 and 2014, to assess their dementia status. We computed the risk for dementia in subjects with early onset depression and quantified the association between different depression subtypes (namely melancholic, anxious, and psychotic) and dementia. The odds of dementia were increased by 2.90 times (95% C.I. 1.61-5.21; pdepressed cohort when compared to the surgical cohort. When the analysis was restricted to patients younger than 45 years old at baseline, the odds for dementia in the depressed cohort were also significantly higher when compared to the surgical cohort (8.53; 95% C.I. 2.40-30.16). In the multivariate Cox analysis, subjects having depression with melancholic features had an increased risk for developing dementia compared to those without melancholic features (HR=3.64; 95% C.I. 1.78-11.26; p=0.025). About 59% of the participants with depression and 53% of those non-exposed were lost during follow up. The inclusion of biological biomarkers would strengthen the results. The sample included a low number of bipolar patients. These results support depression as an early risk factor for dementia. Depression with melancholic features was found as an important risk factor for dementia

  1. A genetic screen of the mutations in the Korean patients with early-onset Alzheimer’s disease

    Directory of Open Access Journals (Sweden)

    An SS

    2016-12-01

    Full Text Available Seong Soo An,1,* Sun Ah Park,2,* Eva Bagyinszky,1 Sun Oh Bae,1 Yoon-Jeong Kim,2 Ji Young Im,2 Kyung Won Park,3 Kee Hyung Park,4 Eun-Joo Kim,5 Jee Hyang Jeong,6 Jong Hun Kim,7 Hyun Jeong Han,8 Seong Hye Choi,9 SangYun Kim10 1Department of Bionano Technology, Gachon University, Seongnam-si, 2Department of Neurology, Soonchunhyang University Bucheon Hospital, Bucheon, 3Department of Neurology, Dong-A University College of Medicine and Institute of Convergence Bio-Health, Busan, 4Department of Neurology, Gachon University Gil Medical Center, Incheon, 5Department of Neurology, Pusan National University Hospital, Busan, 6Department of Neurology, Ewha Womans University Mokdong Hospital, Seoul, 7Department of Neurology, Ilsan Hospital, National Health Insurance Corporation, 8Department of Neurology, Myongii Hospital, Goyang, 9Department of Neurology, Inha University School of Medicine, Incheon, 10Department of Neurology, Seoul National University College of Medicine & Neurocognitive Behavior Center, Seoul National University Bundang Hospital, Seongnam-si, Republic of Korea *These authors contributed equally to this work Abstract: Early-onset Alzheimer’s disease (EOAD has distinct clinical characteristics in comparison to late-onset Alzheimer’s disease (LOAD. The genetic contribution is suggested to be more potent in EOAD. However, the frequency of causative mutations in EOAD could be variable depending on studies. Moreover, no mutation screening study has been performed yet employing large population in Korea. Previously, we reported that the rate of family history of dementia in EOAD patients was 18.7% in a nationwide hospital-based cohort study, the Clinical Research Center for Dementia of South Korea (CREDOS study. This rate is much lower than in other countries and is even comparable to the frequency of LOAD patients in our country. To understand the genetic characteristics of EOAD in Korea, we screened the common Alzheimer’s disease (AD

  2. Bilingualism delays age at onset of dementia, independent of education and immigration status.

    Science.gov (United States)

    Mortimer, James A

    2014-05-27

    Editors' Note: Mortimer argues that important confounding variables may have biased the conclusion by Alladi et al. on the role of bilingualism in delaying the onset of dementia. Following Mortimer’s comments, Alladi et al. conducted additional analysis of their data to support their conclusion. The attitude of "close enough" is not appropriate when determining brain death. Stadlan comments and supports Frank’s call for action regarding this sensitive issue.

  3. Genetic Alzheimer Disease and Sporadic Dementia With Lewy Bodies: A Comorbidity Presenting as Primary Progressive Aphasia.

    Science.gov (United States)

    Picková, Tereza; Matěj, Radoslav; Bezdicek, Ondrej; Keller, Jiří; van der Zee, Julie; Van Broeckhoven, Christine; Cséfalvay, Zsolt; Rusina, Robert

    2017-03-01

    We report a 44-year-old woman, with a family history of early-onset dementia, presenting with primary progressive aphasia. This clinically variable syndrome has multiple underlying pathologies, and correlations between clinical manifestations and postmortem neuropathologic findings are controversial. Our patient suffered worsening language impairment with major word-finding difficulties but preserved comprehension. She also developed episodic memory impairment. Her condition progressed to dementia with behavioral changes. Magnetic resonance imaging showed early left perisylvian and bitemporal atrophy. The patient died shortly afterward from colon cancer. Neuropathologic examination revealed advanced early-onset Alzheimer and Lewy body disease, plus a clinically nonrelevant metastasis of her colon cancer in her left parietal lobe. Genetic examination revealed a p.Glu184Asp mutation in the presenilin1 gene. Our findings confirm the importance of a thorough appreciation for the clinical and neuropathologic correlations in patients with atypical neurodegenerative dementias.

  4. Early diagnosis of dementia and protection

    International Nuclear Information System (INIS)

    Mizuno, Toshiki

    2010-01-01

    Mild cognitive impairment (MCI) refers to the transitional state between the normal elderly and dementia. This concept accelerated many clinical, epidemiological and neuroimaging research in recent 10 years about an early stage of dementia. These studies have approved a significance of this concept and MCI have been classified into subtypes, including prodromal forms of a variety of dementias. An algorithm is proposed to assist the clinician in subclassifying subjects into the various types of MCI, but new several concepts, such as vascular cognitive impairment, still confused clinicians. Therefore, definition and diagnostic procedure for MCI were discussed in this review. Several population-based studies as well as Alzheimer's Disease Neuroimaging Initiative (ADNI) study have documented a higher rate of progression to Alzheimer's disease in individuals diagnosed with MCI. Progression factors, including neuroimaging and vascular risk factors are also discussed. Vascular risk factors, such as hypertension, hyperlipemia and diabetes mellitus can be modulated by food, life style and treatment. The recent clinical trials for protective cognition using anti- hypertensive medication as well as statin is discussed. (author)

  5. Role of EEG as Biomarker in the Early Detection and Classification of Dementia

    Directory of Open Access Journals (Sweden)

    Noor Kamal Al-Qazzaz

    2014-01-01

    Full Text Available The early detection and classification of dementia are important clinical support tasks for medical practitioners in customizing patient treatment programs to better manage the development and progression of these diseases. Efforts are being made to diagnose these neurodegenerative disorders in the early stages. Indeed, early diagnosis helps patients to obtain the maximum treatment benefit before significant mental decline occurs. The use of electroencephalogram as a tool for the detection of changes in brain activities and clinical diagnosis is becoming increasingly popular for its capabilities in quantifying changes in brain degeneration in dementia. This paper reviews the role of electroencephalogram as a biomarker based on signal processing to detect dementia in early stages and classify its severity. The review starts with a discussion of dementia types and cognitive spectrum followed by the presentation of the effective preprocessing denoising to eliminate possible artifacts. It continues with a description of feature extraction by using linear and nonlinear techniques, and it ends with a brief explanation of vast variety of separation techniques to classify EEG signals. This paper also provides an idea from the most popular studies that may help in diagnosing dementia in early stages and classifying through electroencephalogram signal processing and analysis.

  6. Validation of Addenbrooke's cognitive examination for detecting early dementia in a Japanese population.

    Science.gov (United States)

    Yoshida, Hidenori; Terada, Seishi; Honda, Hajime; Ata, Toshie; Takeda, Naoya; Kishimoto, Yuki; Oshima, Etsuko; Ishihara, Takeshi; Kuroda, Shigetoshi

    2011-01-30

    There is a clear need for brief, but sensitive and specific, cognitive screening instruments for dementia. We assessed the diagnostic accuracy of the Japanese version of Addenbrooke's Cognitive Examination (ACE) in identifying early dementia in comparison with the conventional Mini-Mental State Examination (MMSE). Standard tests for evaluating dementia screening tests were applied. A total of 201 subjects (Alzheimer's disease (AD)=65, frontotemporal dementia (FTD)=24, vascular dementia=26, dementia with Lewy bodies=11, mild cognitive impairment (MCI)=13, and controls=62) participated in this study. The reliability of the ACE was very good (alpha coefficient=0.82). In our patient series, the sensitivity for diagnosing dementia with an ACE score of ≤74 was 0.889 with a specificity of 0.987, and the sensitivity of an ACE score of ≤80 was 0.984 with a specificity of 0.867. The Japanese version of the ACE is a very accurate instrument for the detection of early dementia, and should be widely used in clinical practice. Copyright © 2009 Elsevier Ltd. All rights reserved.

  7. Attitudes of the German general population toward early diagnosis of dementia--results of a representative telephone survey.

    Directory of Open Access Journals (Sweden)

    Tobias Luck

    Full Text Available BACKGROUND: Early detection of dementia has clearly improved. Even though none of the currently available treatments for the most common form of dementia, Alzheimer's dementia, promises a cure, early diagnosis provides several benefits for patients, caregivers, and health care systems. This study aimed to describe attitudes toward early diagnosis of dementia in the German general population. METHODS: A representative telephone survey of the German population aged 18+ years (n = 1,002 was conducted in 2011. RESULTS: The majority of respondents (69% would be willing to be examined for early diagnosis of dementia. Almost two thirds reported that they would prefer their general practitioner (GP as the first source of professional help. More than half of the respondents (55% stated their belief that dementia could be prevented. Respondents mostly indicated psychosocial prevention options. CONCLUSIONS: Our findings suggest that the general population in Germany is very open to early diagnosis of dementia; however, this seems connected with large expectations on the effectiveness of prevention options. Dementia awareness campaigns may be employed to carefully inform the public about the prevention options currently available and their efficacy. To exploit GPs' potential as a gatekeeper for early detection of dementia, their ability to identify patients with antecedent and mild stages of the disease must be improved.

  8. Depression subtypes and 5-year risk of dementia and Alzheimer disease in patients aged 70 years.

    Science.gov (United States)

    Vilalta-Franch, Joan; López-Pousa, Secundino; Llinàs-Reglà, Jordi; Calvó-Perxas, Laia; Merino-Aguado, Javier; Garre-Olmo, Josep

    2013-04-01

    The objective of this study was to estimate several subtypes of depressive disorders as risk factors for dementia and Alzheimer disease (AD) specifically. This is a population-based cohort study using a sample of 451 non-demented older people. Adjusted Cox proportional hazard models were calculated to determine the association of depression with dementia or AD development after 5 years. Baseline evaluation included the Cambridge Mental Disorders of the Elderly Examination (CAMDEX). Depressive disorders (major episode [MD] and minor depressive disorders [MDDIS]) were assessed following DSM-IV criteria and further classified according to the age at onset (early versus late onset). In turn, all late-onset depressions were grouped as with or without depression-executive dysfunction syndrome (DEDS). Dementia (and dementia subtypes) diagnoses were made using the CAMDEX. When the patients were deceased, the Retrospective Collateral Dementia Interview was used. Late-onset depressions (both MD and MDDIS) were associated with increased dementia (hazard ratio [HR] = 2.635; 95% CI = 1.153-6.023; and HR = 2.517; 95% CI = 1.200-5.280, respectively), and AD (HR = 6.262; 95% CI = 2.017-19.446; and HR = 4.208; 95% CI = 1.828-9.685, respectively) after adjustment by age, gender, marital status, education, cognitive impairment, executive function and stroke history. A second model revealed that only late-onset depressions with DEDS increased the risk for both dementia (late-onset MD with DEDS: HR = 6.262; 95% CI = 2.017-19.446; late-onset MDDIS with DEDS: HR = 4.208; 95% CI = 1.828-9.685) and AD (late-onset MD with DEDS: HR = 7.807; 95% CI = 1.567-38.894; late-onset MDDIS with DEDS: HR = 6.099; 95% CI = 2.123-17.524). Late-onset depressive episodes with DEDS are risk factors for dementia and AD development, regardless of the severity of the depression. Copyright © 2012 John Wiley & Sons, Ltd.

  9. Evaluation of a workplace engagement project for people with younger onset dementia.

    Science.gov (United States)

    Robertson, Jacinta; Evans, David

    2015-08-01

    In 2011, a workplace project was established to provide a small group of people who had younger onset dementia with the opportunity to return to the workplace. The project sought to explore the feasibility and safety of engaging these younger people in workplace activities if an appropriate framework of support was provided. Opportunities to engage in meaningful activities are quite limited for younger people with dementia because services are targeted at an older client population. A qualitative exploratory approach was used for the project evaluation. Participants were people who were 65 years or younger and had a diagnosis of dementia. They attended a large metropolitan hardware store one day per week and worked beside a store employee for a four hour work shift. Evaluation of the project included observation of participant's engagement in the workplace, adverse events and a qualitative analysis that used participant-nominated good project outcomes. Nine people with a mean age of 58·8 years participated in the project. Six of these participants have been engaged at the workplace for more than two years. All participants were able to gain the skills needed to complete their respective work duties. Participants initially assisted with simple work tasks, but over time, they were able to expand their range of duties to include more complex activities such as customer sales. Participants achieved their nominated good outcomes of improved well-being, engaging in worthwhile activities, contributing to society and socialisation. The evaluation has shown that this workplace programme is a viable model of engagement for younger people with dementia. This evaluation offers a practical demonstration that it is feasible and safe to provide opportunities for younger people with dementia to engage in meaningful activities in the community if appropriate support is provided. © 2015 John Wiley & Sons Ltd.

  10. Multiple imputation for estimating the risk of developing dementia and its impact on survival.

    Science.gov (United States)

    Yu, Binbing; Saczynski, Jane S; Launer, Lenore

    2010-10-01

    Dementia, Alzheimer's disease in particular, is one of the major causes of disability and decreased quality of life among the elderly and a leading obstacle to successful aging. Given the profound impact on public health, much research has focused on the age-specific risk of developing dementia and the impact on survival. Early work has discussed various methods of estimating age-specific incidence of dementia, among which the illness-death model is popular for modeling disease progression. In this article we use multiple imputation to fit multi-state models for survival data with interval censoring and left truncation. This approach allows semi-Markov models in which survival after dementia depends on onset age. Such models can be used to estimate the cumulative risk of developing dementia in the presence of the competing risk of dementia-free death. Simulations are carried out to examine the performance of the proposed method. Data from the Honolulu Asia Aging Study are analyzed to estimate the age-specific and cumulative risks of dementia and to examine the effect of major risk factors on dementia onset and death.

  11. Low Prevalence and Clinical Effect of Vascular Risk Factors in Early-Onset Alzheimer's Disease.

    Science.gov (United States)

    Chen, Yaohua; Sillaire, Adeline Rollin; Dallongeville, Jean; Skrobala, Emilie; Wallon, David; Dubois, Bruno; Hannequin, Didier; Pasquier, Florence

    2017-01-01

    Determinants of early-onset Alzheimer's disease (EOAD) are not well known. In late-onset AD, vascular risk factors (VRFs) are associated with earlier clinical manifestation. The objective of this study was to assess the putative association between VRFs and EOAD. We studied participants with dementia meeting criteria for EOAD (recruited into the French CoMAJ prospective cohort study from 1 June 2009 to 28 February 2014) and age-, gender-matched controls (ratio 1:3, drawn randomly from the French MONA-LISA population-based survey between 2005 and 2007). Demographic data, VRFs, comorbidities, treatments, and APOE genotypes were compared in multivariable logistic regression analyses. We studied 102 participants with dementia (mean±standard deviation age: 59.5±3.8; women: 59.8%) and 306 controls. Compared with controls, EOAD participants had spent less time in formal education (9.9±2.9 versus 11.7±3.8 y; p < 0.0001), were less likely to be regular alcohol consumers (p < 0.0001), had a lower body mass index (-2 kg/m2; p < 0.0004), and a lower mean systolic blood pressure (-6.2 mmHg; p = 0.0036). The prevalence of APOE ɛ4 allele was higher in participants with dementia than in controls (50% versus 29.4%; p = 0.0002), as was the prevalence of depression (48% versus 32%; p < 0.001). Similar results were observed in multivariable analysis. Compared with EOAD participants lacking VRFs, EOAD participants with at least one VRF had a higher prevalence of depression (29.6% versus 53.3%, respectively; p = 0.03). The prevalence of VRFs is not elevated in EOAD patients (in contrast to older AD patients). Extensive genetic testing should be considered more frequently in the context of EOAD.

  12. [Differentiating early dementia from major depression with the Spanish version of the Addenbrooke's Cognitive Examination].

    Science.gov (United States)

    Roca, M; Torralva, T; López, P; Marengo, J; Cetkovich, M; Manes, F

    In clinical practice it is often difficult to establish whether cognitive impairment is secondary to an affective disorder or a dementing process. To describe the cognitive performance on the Spanish version of the Addenbrooke's Cognitive Examination (ACE) of patients with early dementia and depression. 77 patients with early dementia (53 Alzheimer disease; 24 frontotemporal dementia), 17 patients with major depression and 54 healthy volunteers were tested with the Spanish version of the ACE. Alzheimer disease and frontotemporal dementia groups were significantly lower than the control group and the major depression group. When the major depression group was compared with the control group no significant differences were found. The cognitive performance in the ACE is different in patients with early dementia and patient with depression.

  13. Evidence for a genetic etiology of early-onset delinquency.

    Science.gov (United States)

    Taylor, J; Iacono, W G; McGue, M

    2000-11-01

    Age at onset of antisocial behavior discriminates persistent and transitory offenders. The authors proposed that early-onset delinquency has an underlying genetic influence that manifests in problems related to inhibition, whereas late-onset delinquency is more environmentally mediated. To test these notions, they selected 36 early starters, 86 late starters, and 25 nondelinquent controls from a large sample of 11-year-old twins and compared them on several measures related to inhibition and a peer group measure. As expected, early starters had more psychological, behavioral, and emotional problems related to inhibition than late starters and controls. A longitudinal analysis indicated an increase an antisocial behavior among peers of late starters shortly before their delinquency onset. Family history data and a twin analysis provided evidence of greater genetic influence on early-onset than late-onset delinquency.

  14. Doença de Alzheimer esporádica de início precoce Sporadic early onset Alzheimer´s disease

    Directory of Open Access Journals (Sweden)

    Annibal Truzzi

    2005-01-01

    Full Text Available A doença de Alzheimer (DA é a principal causa de demência. Um subgrupo de pacientes apresenta sua forma familiar ou precoce (Alzheimer's disease (AD is the main cause of dementia. A subgroup of patients has the familial or early-onset (<65 years form of AD, with rapid course and a dominant genetic transmission through many generations. We report a case of a patient without a positive familiar history for AD, who presented early memory problems and progressive functional and cognitive (speech, praxis, executive functions e viso-spatial habilities decline. Behavioural (imnsonia, psychomotor agitation and hypersexuality and psychological (depression symptoms of AD were noticed in different stages of the disease. Structural and functional neuroimaging techniques showed impairment of posterior cortical areas. Early onset AD can be confounded with psychiatric disorders especially when there is no familiar history for AD. The presenile impact on both patient and family is intense and treatment in the early stages is very important to reduce patient and caregivers' burden.

  15. Does Schizophrenia in Offspring Increase the Risk of Developing Alzheimer's Dementia

    Directory of Open Access Journals (Sweden)

    Christopher Rohde

    2016-08-01

    Full Text Available Background/Aims: Prior studies have consistently found a higher risk of dementia in individuals with schizophrenia, but whether this is due to a common etiology between the disorders remains obscure. We wanted to elucidate this association by investigating whether schizophrenia in offspring increases the risk of Alzheimer's dementia. Methods: All individuals born between 1930 and 1953 were identified through national registers and followed from their 50th birthday until the date of Alzheimer's dementia, death or end of the study. Regressions were performed to evaluate the association between offspring with schizophrenia and Alzheimer's dementia. Results: Individuals with offspring with schizophrenia did not have an increased risk of Alzheimer's dementia [incidence rate ratio (IRR, 0.97; 95% CI, 0.88-1.07] compared to individuals with offspring without psychiatric contact. This finding remained stable when evaluating early-onset (IRR, 1.10; 95% CI, 0.91-1.31 and late-onset Alzheimer's dementia (IRR, 0.92; 95% CI, 0.88-1.07. Similar findings were made for vascular and unspecified dementia. Conclusion: The finding of no familial coaggregation between schizophrenia and Alzheimer's dementia may suggest that no common etiology between the disorders exists. This may indicate that the excess risk of dementia in individuals with schizophrenia is a by-product of the higher rates of somatic comorbidity and adverse health risk factors among these individuals.

  16. [A case report of early-onset Alzheimer's disease with multiple psychotic symptoms, finally diagnosed as APPV717I mutation by genetic testing].

    Science.gov (United States)

    Ishimaru, Takashi; Ochi, Shinichiro; Matsumoto, Teruhisa; Yoshida, Taku; Abe, Masao; Toyota, Yasutaka; Fukuhara, Ryuji; Tanimukai, Satoshi; Ueno, Shu-ichi

    2013-01-01

    It is difficult to confirm a diagnosis of early-onset Alzheimer's disease (EOAD) because patients sometimes have non-specific cortical features, such as psychiatric symptoms, executive functional impairment, and pyramidal symptoms, along with typical symptoms, such as recent memory impairment and disorientation. We encountered a patient with multiple psychotic symptoms, finally diagnosed with EOAD on genetic testing. A right-handed sixty-year-old man, whose mother was suspected of having dementia, developed memory impairment at the age of fifty, disorientation at the age of fifty-six, and both visual hallucination and dressing apraxia at the age of fifty-nine. After admission to a psychiatric hospital for treatment, his symptoms disappeared with antipsychotic medication. However, his ADL were declining and so he was referred to our university hospital. He had frontal lobe symptoms, pyramidal signs, and extrapyramidal signs with severe dementia. Neuropsychological examinations were not possible because of sedation. On brain MRI, he showed diffuse atrophy of the cerebral cortex and hippocampus. HMPO-SPECT showed hypoperfusion of cerebral cortices diffusely. We decided to perform genetic testing because he had both family and alcohol abuse histories. He showed EOAD with V717I mutation of the amyloid precursor protein gene. After the discontinuation of antipsychotics, excessive sedation and extrapyramidal signs disappeared. A dose of 10 mg of donepezil was effective to improve motivation and activity, and his mini mental examination score was calculable after recovery. The case supports usefulness of applying genetic testing for Alzheimer's disease to patients with early onset dementia, even when they do not have a family history.

  17. Influence of family history of dementia in the development and progression of late-onset Alzheimer's disease.

    Science.gov (United States)

    Scarabino, Daniela; Gambina, Giuseppe; Broggio, Elisabetta; Pelliccia, Franca; Corbo, Rosa Maria

    2016-03-01

    Family history of dementia (FH) is a recognized risk factor for developing late-onset Alzheimer's disease (AD). We asked whether having FH increases AD risk and influences disease severity (age at onset and cognitive impairment) in 420 AD patients and 109 controls with (FH+) or without (FH-). The relationships of APOE and other AD risk genes with FH were analyzed as well. The proportion of APOE e4 allele carriers was higher among the FH+ than the FH- AD patients (49.6% vs. 38.9%; P = 0.04). The distribution of the risk genotypes of nine AD susceptibility genes previously examined (CHAT, CYP17, CYP19, ESR1, FSHR, P53, P73, P21, PPARG) did not differ between the FH+ and the FH- AD patients, indicating that none contributed significantly to familial clustering of disease. FH was associated with an increased AD risk (odds ratio [OR] 2.71, 95% confidence interval [CI] 1.44-5.09; P = 0.002) independent of carrying the APOE e4 allele (OR 2.61, 95%CI 1.53-4.44; P = 0.0004). Having a first-degree relative or a parent with dementia was significantly associated with AD risk (OR 2.9, 95%CI 1.3-6.4; P = 0.009 and OR 2.7, 95%CI 1.1-6.2; P = 0.02) but having a sibling with dementia was not (OR 1.7, 95%CI 0.2 to 14.7; P = 0.6). Among the FH+ AD patients, having one or both parents affected seemed to raise the risk of earlier onset age (P = 0.02) and greater cognitive impairment (P = 0.02) than having only an affected sibling, whereas having two or more affected relatives did not. © 2015 Wiley Periodicals, Inc.

  18. CSF/serum albumin ratio in dementias: a cross-sectional study on 1861 patients.

    Science.gov (United States)

    Skillbäck, Tobias; Delsing, Louise; Synnergren, Jane; Mattsson, Niklas; Janelidze, Shorena; Nägga, Katarina; Kilander, Lena; Hicks, Ryan; Wimo, Anders; Winblad, Bengt; Hansson, Oskar; Blennow, Kaj; Eriksdotter, Maria; Zetterberg, Henrik

    2017-11-01

    A connection between dementias and blood-brain barrier (BBB) dysfunction has been suggested, but previous studies have yielded conflicting results. We examined cerebrospinal fluid (CSF)/serum albumin ratio in a large cohort of patients diagnosed with Alzheimer's disease (AD, early onset [EAD, n = 130], late onset AD [LAD, n = 666]), vascular dementia (VaD, n = 255), mixed AD and VaD (MIX, n = 362), Lewy body dementia (DLB, n = 50), frontotemporal dementia (FTD, n = 56), Parkinson's disease dementia (PDD, n = 23), other dementias (other, n = 48), and dementia not otherwise specified (NOS, n = 271). We compared CSF/serum albumin ratio to 2 healthy control groups (n = 292, n = 20), between dementia diagnoses, and tested biomarker associations. Patients in DLB, LAD, VaD, MIX, other, and NOS groups had higher CSF/serum albumin ratio than controls. CSF/serum albumin ratio correlated with CSF neurofilament light in LAD, MIX, VaD, and other groups but not with AD biomarkers. Our data show that BBB leakage is common in dementias. The lack of association between CSF/serum albumin ratio and AD biomarkers suggests that BBB dysfunction is not inherent to AD but might represent concomitant cerebrovascular pathology. Copyright © 2017 Elsevier Inc. All rights reserved.

  19. Low Prevalence and Clinical Effect of Vascular Risk Factors in Early-Onset Alzheimer’s Disease

    Science.gov (United States)

    Chen, Yaohua; Sillaire, Adeline Rollin; Dallongeville, Jean; Skrobala, Emilie; Wallon, David; Dubois, Bruno; Hannequin, Didier; Pasquier, Florence; Bombois, Stéphanie; Boutantin, Justine; Cassagnaud, Pascaline; Chen, Yaohua; Delbeuck, Xavier; Delmaire, Christine; Deramecourt, Vincent; Gele, Patrick; Houssein-Foucher, Claude; Jacquemont, Charlotte; Lebert, Florence; Lebouvier, Thibaud; Lopez, Renaud; Mackowiak, Marie-Anne; Maureille, Aurélien; Pasquier, Florence; Petyt, Grégory; Pollet, Marianne; Rollin-Sillaire, Adeline; Schraen, Susanna; Semah, Franck; Vanhoutte, Matthieu

    2017-01-01

    Background: Determinants of early-onset Alzheimer’s disease (EOAD) are not well known. In late-onset AD, vascular risk factors (VRFs) are associated with earlier clinical manifestation. Objective: The objective of this study was to assess the putative association between VRFs and EOAD. Methods: We studied participants with dementia meeting criteria for EOAD (recruited into the French CoMAJ prospective cohort study from 1 June 2009 to 28 February 2014) and age-, gender-matched controls (ratio 1:3, drawn randomly from the French MONA-LISA population-based survey between 2005 and 2007). Demographic data, VRFs, comorbidities, treatments, and APOE genotypes were compared in multivariable logistic regression analyses. Results: We studied 102 participants with dementia (mean±standard deviation age: 59.5±3.8; women: 59.8%) and 306 controls. Compared with controls, EOAD participants had spent less time in formal education (9.9±2.9 versus 11.7±3.8 y; p < 0.0001), were less likely to be regular alcohol consumers (p < 0.0001), had a lower body mass index (–2 kg/m2; p < 0.0004), and a lower mean systolic blood pressure (–6.2 mmHg; p = 0.0036). The prevalence of APOE ɛ4 allele was higher in participants with dementia than in controls (50% versus 29.4%; p = 0.0002), as was the prevalence of depression (48% versus 32%; p < 0.001). Similar results were observed in multivariable analysis. Compared with EOAD participants lacking VRFs, EOAD participants with at least one VRF had a higher prevalence of depression (29.6% versus 53.3%, respectively; p = 0.03). Conclusion: The prevalence of VRFs is not elevated in EOAD patients (in contrast to older AD patients). Extensive genetic testing should be considered more frequently in the context of EOAD. PMID:28984595

  20. Bilingualism, dementia, cognitive and neural reserve.

    Science.gov (United States)

    Perani, Daniela; Abutalebi, Jubin

    2015-12-01

    We discuss the role of bilingualism as a source of cognitive reserve and we propose the putative neural mechanisms through which lifelong bilingualism leads to a neural reserve that delays the onset of dementia. Recent findings highlight that the use of more than one language affects the human brain in terms of anatomo-structural changes. It is noteworthy that recent evidence from different places and cultures throughout the world points to a significant delay of dementia onset in bilingual/multilingual individuals. This delay has been reported not only for Alzheimer's dementia and its prodromal mild cognitive impairment phase, but also for other dementias such as vascular and fronto-temporal dementia, and was found to be independent of literacy, education and immigrant status. Lifelong bilingualism represents a powerful cognitive reserve delaying the onset of dementia by approximately 4 years. As to the causal mechanism, because speaking more than one language heavily relies upon executive control and attention, brain systems handling these functions are more developed in bilinguals resulting in increases of gray and white matter densities that may help protect from dementia onset. These neurocognitive benefits are even more prominent when second language proficiency and exposure are kept high throughout life.

  1. Early Onset Alzheimer’s Disease and Oxidative Stress

    Directory of Open Access Journals (Sweden)

    Marco Antonio Meraz-Ríos

    2014-01-01

    Full Text Available Alzheimer’s disease (AD is the most common cause of dementia in elderly adults. It is estimated that 10% of the world’s population aged more than 60–65 years could currently be affected by AD, and that in the next 20 years, there could be more than 30 million people affected by this pathology. One of the great challenges in this regard is that AD is not just a scientific problem; it is associated with major psychosocial and ethical dilemmas and has a negative impact on national economies. The neurodegenerative process that occurs in AD involves a specific nervous cell dysfunction, which leads to neuronal death. Mutations in APP, PS1, and PS2 genes are causes for early onset AD. Several animal models have demonstrated that alterations in these proteins are able to induce oxidative damage, which in turn favors the development of AD. This paper provides a review of many, although not all, of the mutations present in patients with familial Alzheimer’s disease and the association between some of these mutations with both oxidative damage and the development of the pathology.

  2. Nobody asked me how I felt: experiences of adult children of persons with young-onset dementia.

    Science.gov (United States)

    Barca, Maria Lage; Thorsen, Kirsten; Engedal, Knut; Haugen, Per Kristian; Johannessen, Aud

    2014-12-01

    There are few studies of young persons (old) with dementia, and the situation of their children has been a neglected research field. The aim is explore how adult children of a parent with young-onset dementia have experienced the development of their parents' dementia and what needs they have for assistance. Qualitative interviews with 14 informants (aged 20-37 years; 12 daughters, 2 sons) during 2011 were conducted and analyzed thematically. The informants experienced great burdens and felt neglected during the development of their parents' dementia, both by their family and by health and social services. They emphasized a need to be seen as individuals, with their experiences, feelings, and personal needs for assistance. The stresses experienced during the development of parental dementia seemed to increase conflicts in the family. There were variations in reactions between children, depending on age, gender, family structure and relationships, responsibilities, personal relations with both parents, and whether there was an adult primary caregiver. The length of time living together with the parent with dementia seemed to increase the stress and burden to the children. They expressed a great need for information and support. The findings strengthen the notion of the need for family-oriented support, combined with person-centered care for the children according to their needs. In addition, group meetings and contact with other young people in the same stage of life could be of interest for some.

  3. Early-onset obsessive-compulsive disorder and personality disorders in adulthood.

    Science.gov (United States)

    Maina, Giuseppe; Albert, Umberto; Salvi, Virginio; Pessina, Enrico; Bogetto, Filippo

    2008-03-15

    Obsessive-compulsive disorder (OCD) often emerges in childhood or adolescence. The aim of the present study was to evaluate whether adult patients with prepuberal onset differ from subjects with later onset in terms of personality disorder comorbidity. The Structured Clinical Interview for DSM-IV Axis II Disorders was used to assess 148 patients with a principal diagnosis of OCD according to the Structured Clinical Interview for DSM-IV Axis I Disorders. The following two subgroups of subjects were selected according to the age at onset of symptomatology: patients with an early-onset ( or =17 years). Of the 148 patients screened for the present study, 33 (22.3%) had an early onset and 1369 (46.6%) had a later onset. With regard to personality disorders, early-onset patients showed more OC personality disorders (OCPD) than later onset patients. Our finding suggests that OCD in childhood increases the risk for developing OCPD in adulthood, or that early-onset OCD and OCPD share a common pathogenesis.

  4. Estrogen and early-onset Alzheimer's disease

    NARCIS (Netherlands)

    A.J.C. Slooter (Arjen); J.B. Bronzova (Juliana); A. Hofman (Albert); C. van Broeckhoven (Christine); C.M. van Duijn (Cornelia); J.C.M. Witteman (Jacqueline)

    1999-01-01

    textabstractEstrogen use may be protective for Alzheimer's disease with late onset. However, the effects on early onset Alzheimer's disease are unclear. This issue was studied in a population based setting. For each female patient, a female control was matched on age (within 5 years) and place of

  5. Statins Reduces the Risk of Dementia in Patients with Late-Onset Depression: A Retrospective Cohort Study.

    Science.gov (United States)

    Yang, Ya-Hsu; Teng, Hao-Wei; Lai, Yen-Ting; Li, Szu-Yuan; Lin, Chih-Ching; Yang, Albert C; Chan, Hsiang-Lin; Hsieh, Yi-Hsuan; Lin, Chiao-Fan; Hsu, Fu-Ying; Liu, Chih-Kuang; Liu, Wen-Sheng

    2015-01-01

    Patients with late-onset depression (LOD) have been reported to run a higher risk of subsequent dementia. The present study was conducted to assess whether statins can reduce the risk of dementia in these patients. We used the data from National Health Insurance of Taiwan during 1996-2009. Standardized Incidence Ratios (SIRs) were calculated for LOD and subsequent dementia. The criteria for LOD diagnoses included age ≥65 years, diagnosis of depression after 65 years of age, at least three service claims, and treatment with antidepressants. The time-dependent Cox proportional hazards model was applied for multivariate analyses. Propensity scores with the one-to-one nearest-neighbor matching model were used to select matching patients for validation studies. Kaplan-Meier curve estimate was used to measure the group of patients with dementia living after diagnosis of LOD. Totally 45,973 patients aged ≥65 years were enrolled. The prevalence of LOD was 12.9% (5,952/45,973). Patients with LOD showed to have a higher incidence of subsequent dementia compared with those without LOD (Odds Ratio: 2.785; 95% CI 2.619-2.958). Among patients with LOD, lipid lowering agent (LLA) users (for at least 3 months) had lower incidence of subsequent dementia than non-users (Hazard Ratio = 0.781, 95% CI 0.685-0.891). Nevertheless, only statins users showed to have reduced risk of dementia (Hazard Ratio = 0.674, 95% CI 0.547-0.832) while other LLAs did not, which was further validated by Kaplan-Meier estimates after we used the propensity scores with the one-to-one nearest-neighbor matching model to control the confounding factors. Statins may reduce the risk of subsequent dementia in patients with LOD.

  6. Systemic and Disease-Specific Risk Factors in Vascular Dementia: Diagnosis and Prevention

    Directory of Open Access Journals (Sweden)

    Efraim Jaul

    2017-10-01

    Full Text Available In order to prevent the onset of vascular dementia (VaD in aging individuals, it is critical to detect clinically relevant vascular and systemic pathophysiological changes to signal the onset of its preceding prodromal stages. Identifying behavioral and neurobiological markers that are highly sensitive to VaD classification vs. other dementias is likely to assist in developing novel preventive treatment strategies that could delay the onset of disruptive psychomotor symptoms, decrease hospitalizations, and increase the quality of life in clinically-high-risk aging individuals. In light of empirical diagnostic and clinical findings associated with VaD pathophysiology, the current investigation will suggest a few clinically-validated biomarker measures of prodromal VaD cognitive impairments that are correlated with vascular symptomology, and VaD endophenotypes in non-demented aging people. In prodromal VaD individuals, distinguishing VaD from other dementias (e.g., Alzheimer's disease could facilitate specific early preventive interventions that significantly delay more severe cognitive deterioration or indirectly suppress the onset of dementia with vascular etiology. Importantly, the authors conclude that primary prevention strategies should examine aging individuals by employing comprehensive geriatric assessment approach, taking into account their medical history, and longitudinally noting their vascular, systemic, cognitive, behavioral, and clinical functional status. Secondary prevention strategies may include monitoring chronic medication as well as promoting programs that facilitate social interaction and every-day activities.

  7. Intrauterine growth restriction and placental gene expression in severe preeclampsia, comparing early-onset and late-onset forms.

    Science.gov (United States)

    Nevalainen, Jaana; Skarp, Sini; Savolainen, Eeva-Riitta; Ryynänen, Markku; Järvenpää, Jouko

    2017-10-26

    To evaluate placental gene expression in severe early- or late-onset preeclampsia with intrauterine growth restriction compared to controls. Chorionic villus sampling was conducted after cesarean section from the placentas of five women with early- or late-onset severe preeclampsia and five controls for each preeclampsia group. Microarray analysis was performed to identify gene expression differences between the groups. Pathway analysis showed over-representation of gene ontology (GO) biological process terms related to inflammatory and immune response pathways, platelet development, vascular development, female pregnancy and reproduction in early-onset preeclampsia. Pathways related to immunity, complement and coagulation cascade were overrepresented in the hypergeometric test for the Kyoto Encyclopedia of Genes and Genomes (KEGG) database. Ten genes (ABI3BP, C7, HLA-G, IL2RB, KRBOX1, LRRC15, METTL7B, MPP5, RFLNB and SLC20A) had a ≥±1 fold expression difference in severe early-onset preeclampsia group compared to early controls. There were 362 genes that had a ≥±1 fold expression difference in severe early-onset preeclampsia group compared to late-onset preeclampsia group including ABI3BP, C7, HLA-G and IL2RB. There are significant differences in placental gene expression between severe early- and late-onset preeclampsia when both are associated with intrauterine growth restriction. ABI3BP, C7, HLA-G and IL2RB might contribute to the development of early form of severe preeclampsia.

  8. Amyloid PET in neurodegenerative diseases with dementia.

    Science.gov (United States)

    Camacho, V; Gómez-Grande, A; Sopena, P; García-Solís, D; Gómez Río, M; Lorenzo, C; Rubí, S; Arbizu, J

    2018-05-15

    Alzheimer's disease (AD) is a neurodegenerative condition characterized by progressive cognitive decline and memory loss, and is the most common form of dementia. Amyloid plaques with neurofibrillary tangles are a neuropathological hallmark of AD that produces synaptic dysfunction and culminates later in neuronal loss. Amyloid PET is a useful, available and non-invasive technique that provides in vivo information about the cortical amyloid burden. In the latest revised criteria for the diagnosis of AD biomarkers were defined and integrated: pathological and diagnostic biomarkers (increased retention on fibrillar amyloid PET or decreased Aβ 1-42 and increased T-Tau or P-Tau in CSF) and neurodegeneration or topographical biomarkers (temporoparietal hypometabolism on 18 F-FDG PET and temporal atrophy on MRI). Recently specific recommendations have been created as a consensus statement on the appropriate use of the imaging biomarkers, including amyloid PET: early-onset cognitive impairment/dementia, atypical forms of AD, mild cognitive impairment with early age of onset, and to differentiate between AD and other neurodegenerative diseases that occur with dementia. Amyloid PET is also contributing to the development of new therapies for AD, as well as in research studies for the study of other neurodegenerative diseases that occur with dementia where the deposition of Aβ amyloid is involved in its pathogenesis. In this paper, we review some general concepts and study the use of amyloid PET in depth and its relationship with neurodegenerative diseases and other diagnostic techniques. Copyright © 2018 Sociedad Española de Medicina Nuclear e Imagen Molecular. Publicado por Elsevier España, S.L.U. All rights reserved.

  9. Coping efforts and resilience among adult children who grew up with a parent with young-onset dementia: a qualitative follow-up study

    Directory of Open Access Journals (Sweden)

    Aud Johannessen

    2016-04-01

    Full Text Available Background: It is estimated that one in four persons with young-onset dementia (YOD (<65 years old has children younger than 18 years old at the onset of the dementia. These children experience a childhood different from what is expected. Adult children of parents with YOD are seldom addressed in research, and the impact of the dementia on the children's development over time has rarely been studied. Aim: The goal of this study was to explore how adult children experienced the influence of their parents’ dementia on their own development during adolescence; what coping efforts, strategies, and resources they employed; and how they evaluated the most recent changes in their life situation. Method: A follow-up, grounded theory approach in two phases was used. Qualitative interviews with 14 informants (18–30 years of age were conducted in 2014 and one year later, in 2015. Findings: Nearly all the informants expressed that their emotional well-being and their life situation were better at the second interview compared to the time of dementia onset in their parents. To overcome the difficulties of being a child of a parent with YOD, they used different instrumental, cognitive, and emotional coping strategies, subsumed analytically under the concept detachment. This category covers three subcategories of coping strategies: moving apart, greater personal distance, and calmer emotional reactions. Another category, resilience, designates combinations of the coping strategies. Vital for the development of coping resources and resilience was the need the informants had for social support—for people they saw who listened to them and responded to their needs. Conclusion: Most of the informants reported that they experienced a better life situation and less emotional stress over time as their parent's dementia progressed. They developed better coping capacities and greater resilience. Vital for the development of coping resources and resilience was the

  10. Ventilatory Response to Hypercapnia Predicts Dementia with Lewy Bodies in Late-Onset Major Depressive Disorder.

    Science.gov (United States)

    Takahashi, Sho; Mizukami, Katsuyoshi; Arai, Tetsuaki; Ogawa, Ryoko; Kikuchi, Norihiro; Hattori, Satoshi; Darby, David; Asada, Takashi

    2016-01-01

    Studies have shown that developing major depressive disorder (MDD) at 50 years of age or older can predict dementia. Depression is particularly common in dementia with Lewy bodies (DLB), and occasionally occurs before the onset of extrapyramidal symptoms. Moreover, systemic autonomic dysfunction, including an abnormal ventilatory response to hypercapnia (VRH), is common in patients with DLB. Here, we aimed to determine whether the VRH is useful for distinguishing depression that is predictive of DLB from other types of MDD. Participants were 35 consecutive patients with first onset MDD at 50 years or older with bradykinesia. After diagnosing the clinical subtype of MDD according to DSM-IV criteria, each subject underwent a battery of psychological tests, autonomic examinations including VRH, brain magnetic resonance imaging, and 123I-meta-iodobenzylguanidine scintigraphy. Longitudinal follow-up showed that all 18 patients with abnormal VRH results developed DLB, whereas none of the 17 patients with normal VRH results converted to DLB within the study period (sensitivity: 100% , specificity: 100%). Additionally, over half of the DLB converters showed abnormalities on other autonomic examinations. For converters, the most common MDD subtype had psychotic and melancholic features simultaneously. The frequency of hypersensitivity to psychotropics was higher in converters than it was in non-converters. In the present study, patients with abnormal VRH results were very likely to develop DLB. Thus, for patients with late-onset MDD accompanied by bradykinesia, the VRH in combination with the clinical subtype of MDD or hypersensitivity to psychotropics may be useful for diagnosing prodromal DLB.

  11. Age at onset of DSM-IV pathological gambling in a non-treatment sample: Early- versus later-onset.

    Science.gov (United States)

    Black, Donald W; Shaw, Martha; Coryell, William; Crowe, Raymond; McCormick, Brett; Allen, Jeff

    2015-07-01

    Pathological gambling (PG) is a prevalent and impairing public health problem. In this study we assessed age at onset in men and women with PG and compared the demographic and clinical picture of early- vs. later-onset individuals. We also compared age at onset in PG subjects and their first-degree relatives with PG. Subjects with DSM-IV PG were recruited during the conduct of two non-treatment clinical studies. Subjects were evaluated with structured interviews and validated questionnaires. Early-onset was defined as PG starting prior to age 33years. Age at onset of PG in the 255 subjects ranged from 8 to 80years with a mean (SD) of 34.0 (15.3) years. Men had an earlier onset than women. 84% of all subjects with PG had developed the disorder by age 50years. Early-onset subjects were more likely to be male, to prefer action games, and to have substance use disorders, antisocial personality disorder, attention deficit/hyperactivity disorder, trait impulsiveness, and social anxiety disorder. Later-onset was more common in women and was associated with a preference for slots and a history of sexual abuse. Age at onset of PG is bimodal and differs for men and women. Early-onset PG and later-onset PG have important demographic and clinical differences. The implications of the findings are discussed. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Selective Attention in Early Dementia of Alzheimer Type

    Science.gov (United States)

    Fernandez-Duque, Diego; Black, Sandra E.

    2008-01-01

    This study explored possible deficits in selective attention brought about by Dementia of Alzheimer Type (DAT). In three experiments, we tested patients with early DAT, healthy elderly, and young adults under low memory demands to assess perceptual filtering, conflict resolution, and set switching abilities. We found no evidence of impaired…

  13. Early-onset stargardt disease: phenotypic and genotypic characteristics

    NARCIS (Netherlands)

    Lambertus, S.; Huet, R.A.C. van; Bax, N.M.; Hoefsloot, L.H.; Cremers, F.P.M.; Boon, C.J.F.; Klevering, B.J.; Hoyng, C.B.

    2015-01-01

    OBJECTIVE: To describe the phenotype and genotype of patients with early-onset Stargardt disease. DESIGN: Retrospective cohort study. PARTICIPANTS: Fifty-one Stargardt patients with age at onset onset, medical history, initial

  14. The different faces of the p. A53T alpha-synuclein mutation: A screening of Greek patients with parkinsonism and/or dementia.

    Science.gov (United States)

    Breza, Marianthi; Koutsis, Georgios; Karadima, Georgia; Potagas, Constantin; Kartanou, Chrisoula; Papageorgiou, Sokratis G; Paraskevas, George P; Kapaki, Elisabeth; Stefanis, Leonidas; Panas, Marios

    2018-04-13

    The p. A53T mutation in the alpha-synuclein (SNCA) gene is a rare cause of autosomal dominant Parkinson's disease (PD). Although generally rare, it is particularly common in the Greek population due to a founder effect. A53T-positive PD patients often develop dementia during disease course and may very rarely present with dementia. We screened for the p. A53T SNCA mutation a total of 347 cases of Greek origin with parkinsonism and/or dementia, collected over 15 years at the Neurogenetics Unit, Eginition Hospital, University of Athens. Cases were classified into: "pure parkinsonism", "pure dementia" and "parkinsonism plus dementia". In total, 4 p. A53T SNCA mutation carriers were identified. All had autosomal dominant family history and early onset. Screening of the "pure parkinsonism" category revealed 2 cases with typical PD. The other two mutation carriers were identified in the "parkinsonism plus dementia" category. One had a diagnosis of PD dementia and the other of behavioral variant frontotemporal dementia. Screening of patients with "pure dementia" failed to identify any further A53T-positive cases. Our results confirm that the p. A53T SNCA mutation is relatively common in Greek patients with PD or PD plus dementia, particularly in cases with early onset and/or autosomal dominant family history. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. [Clinical characteristics and renal uric acid excretion in early-onset gout patients].

    Science.gov (United States)

    Li, Q H; Liang, J J; Chen, L X; Mo, Y Q; Wei, X N; Zheng, D H; Dai, L

    2018-03-01

    Objective: To investigate clinical characteristics and renal uric acid excretion in early-onset gout patients. Methods: Consecutive inpatients with primary gout were recruited between 2013 and 2017. The patients with gout onset younger than 30 were defined as early-onset group while the others were enrolled as control group. Clinical characteristics and uric acid (UA) indicators were compared between two groups. Results: Among 202 recruited patients, the early-onset group included 36 patients (17.8%). Compared with control group, the early-onset group presented more patients with obesity [13 patients (36.1%) vs. 22 patients (13.3%), Pgout early onset. Conclusion: The gout patients with early-onset younger than 30 present high serum and glomerular load of uric acid which might be due to obesity and relative under-excretion of renal uric acid.

  16. Risk Factors for Dementia in People with Down Syndrome: Issues in Assessment and Diagnosis

    Science.gov (United States)

    Bush, Alick; Beail, Nigel

    2004-01-01

    It has been clearly established that there is an increased incidence of early onset dementia of the Alzheimer type (DAT) in people who have Down syndrome. There are variations in the age of onset of the clinical signs of DAT, which may be accounted for by different risk factors. In this review we examined the evidence that different biological and…

  17. Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia.

    Science.gov (United States)

    Park, Jiyun; An, Seong Soo A; Giau, Vo Van; Shim, Kyuhwan; Youn, Young Chul; Bagyinszky, Eva; Kim, SangYun

    2017-08-01

    In the present study, a novel mutation in exon 7 of presenilin 1 (Leu232Pro) was discovered in a Korean patient with early-onset Alzheimer's disease, who represented memory decline at 37 years of age, followed by impairment in spatial activity and concentrations and personality changes. Imaging analyses with magnetic resonance scan showed diffuse atrophy in the frontoparietal regions. Targeted next generation sequencing and Sanger sequencing identified a heterozygous T to C transition at position 695 (c.695T>C) of in presenilin 1 gene (PSEN1), resulting in a novel missense mutation at codon 232 from leucine to proline (L232P). Several family members of the patient developed dementia, suggesting an autosomal dominant inheritance; however, we were unable to perform a segregation analysis to confirm this. Since the proline may play a role as a helix breaker, this mutation could significantly disturb the transmembrane helix domain-V of PSEN1 and perturb its protein functions. This hypothesis was supported by the results from the in silico analyses, predicted a major kink on this helix. Several leucine>proline substitutions in other PSEN1 transmembrane helices revealed aggressive AD phenotypes. Future functional studies would be needed to evaluate the pathogenicity of this mutation in AD. Copyright © 2017 Elsevier Inc. All rights reserved.

  18. Contributions of an artistic educational program for older people with early dementia: an exploratory qualitative study.

    Science.gov (United States)

    Ullán, Ana M; Belver, Manuel H; Badía, Marta; Moreno, Carmen; Garrido, Eugenio; Gómez-Isla, José; Gonzalez-Ingelmo, Elena; Delgado, Juan; Serrano, Isabel; Herrero, Carmen; Manzanera, Paloma; Tejedor, Laura

    2013-07-01

    To describe a contemporary artistic educational program based on photographic cyanotype techniques and to present the results of the program carried out with older people with early dementia. We determined whether these people could participate in the program, their viewpoint about it, and what this program could contribute to their experience. Twenty-one people diagnosed with mild or moderate dementia participated in a series of artistic education workshops. While conducting the workshops, participant observation was carried out, and the participants' engagement was assessed. Upon completing the series, five focus groups were held with the participants with dementia, and another focus group with their professional caretakers. We observed the participants' high level of commitment to the activity and their interest in learning new things. We also observed the participants' satisfaction during the creative process and with their results. The artistic activities not only reinforced the feelings of capacity of the participants with early dementia but also transmitted a positive image of them. Dementia was not an obstacle to participation in the program, which was an opportunity for creativity, learning, enjoyment, and communication for people with dementia. In the authors' opinion, facilitating access to art and artistic education to people with early dementia can contribute to enforcing their rights and to improving the care system.

  19. Markers of neurodevelopmental impairments in early-onset psychosis

    Directory of Open Access Journals (Sweden)

    Petruzzelli MG

    2015-07-01

    Full Text Available Maria Giuseppina Petruzzelli,1 Lucia Margari,1 Francesco Craig,1 Maria Gloria Campa,1 Domenico Martinelli,2 Adriana Pastore,3 Marta Simone,1 Francesco Margari3 1Child and Adolescence Neuropsychiatry Unit, Department of Basic Medical Sciences, Neuroscience and Sense Organs, University “Aldo Moro” of Bari, 2Department of Medical and Surgical Sciences; University of Foggia, Foggia, 3Psychiatry Unit, Department of Basic Medical Sciences, Neuroscience and Sense Organ, University “Aldo Moro” of Bari, Bari, Italy Background: The aim of this study was to assess the association between the clinical and neurobiological markers of neurodevelopmental impairments and early-onset schizophrenia spectrum psychosis. Methods: A sample of 36 patients with early-onset schizophrenia spectrum psychosis was compared to a control sample of 36 patients with migraine. We assessed early childhood neurodevelopmental milestones using a modified version of the General Developmental Scale, general intellectual ability using the Wechsler Intelligence Scale for Children–Revised or Leiter International Performance Scale–Revised for patients with speech and language abnormalities, and neurological soft signs with specific regard to subtle motor impairment. Results: Subjects with early-onset psychosis had a higher rate of impaired social development (P=0.001, learning difficulties (P=0.04, enuresis (P=0.0008, a lower intelligence quotient (P<0.001, and subtle motor impairments (P=0.005 than control subjects. Conclusion: We suggest that neurodevelopment in early-onset psychosis is characterized by a global impairment of functional and adaptive skills that manifests from early childhood, rather than a delay or limitation in language and motor development. The current evidence is based on a small sample and should be investigated in larger samples in future research. Keywords: early-onset psychosis, early-onset schizophrenia, neurodevelopment, social cognition

  20. Theory of Mind differences in older patients with early-onset and late-onset paranoid schizophrenia.

    Science.gov (United States)

    Smeets-Janssen, M M J; Meesters, P D; Comijs, H C; Eikelenboom, P; Smit, J H; de Haan, L; Beekman, A T F; Stek, M L

    2013-11-01

    Theory of Mind (ToM) is considered an essential element of social cognition. In younger schizophrenia patients, ToM impairments have extensively been demonstrated. It is not clear whether similar impairments can be found in older schizophrenia patients and if these impairments differ between older patients with early-onset and late-onset schizophrenia. Theory of Mind abilities were assessed using the Hinting Task in 15 older patients (age 60 years and older) with early-onset paranoid schizophrenia, 15 older patients with late-onset paranoid schizophrenia and 30 healthy controls. ANCOVA was performed to test differences between groups. Analyses were adjusted for level of education. Effect sizes, partial eta squared (ε(2) ), were computed as an indication of the clinical relevance of the findings. Patients with early-onset schizophrenia scored significantly lower on the Hinting Task (mean 16.1; SD 4.3) compared with patients with late-onset schizophrenia (mean 18.6; SD 1.5) and with healthy controls (mean 19.0; SD 1.4). The effect size of this difference was large (ε(2)  = 0.2). These results suggest that ToM functioning may be a protective factor modulating the age at onset of psychosis. Further studies into the relationship between social cognition and onset age of psychosis are warranted. Copyright © 2013 John Wiley & Sons, Ltd.

  1. Attention deficit hyperactivity disorder symptoms mediate early-onset smoking

    NARCIS (Netherlands)

    Huizink, A.C.; Van Lier, P.A.C.; Crijnen, A.A.M.

    2009-01-01

    Background/Aims: Symptoms of attention deficit hyperactivity disorder (ADHD) have often been associated with early-onset smoking. We hypothesize that reductions in ADHD symptoms due to an intervention have a mediating effect on early-onset smoking. Methods: In a universal, school-based, randomized

  2. Attention Deficit Hyperactivity Disorder Symptoms Mediate Early-Onset Smoking

    NARCIS (Netherlands)

    Huizink, A.C.; Lier, P.A.C. van; Crijnen, A.A.M.

    2009-01-01

    Background/Aims: Symptoms of attention deficit hyperactivity disorder (ADHD) have often been associated with early-onset smoking. We hypothesize that reductions in ADHD symptoms due to an intervention have a mediating effect on early-onset smoking. Methods: In a universal, school-based, randomized

  3. Attention deficit hyperactivity disorder symptoms mediate early-onset smoking

    NARCIS (Netherlands)

    A.C. Huizink (Anja); P.A.C. van Lier (Pol); A.A.M. Crijnen (Alfons)

    2008-01-01

    textabstractBackground/Aims: Symptoms of attention deficit hyperactivity disorder (ADHD) have often been associated with early-onset smoking. We hypothesize that reductions in ADHD symptoms due to an intervention have a mediating effect on early-onset smoking. Methods: In a universal, school-based,

  4. Analysis on early clinical features of behavioral variant frontotemporal dementia

    Directory of Open Access Journals (Sweden)

    Guan-jun LI

    2017-11-01

    Full Text Available Background Although the early behavioral symptoms of behavioral variant frontotemporal dementia (bvFTD are prominent, early diagnosis for bvFTD is difficult due to confusion with other mental disorders, and lack of sensitivity and specificity of diagnostic criteria, etc. In this paper, we summarized the important reviews in recent years and analyzed the clinical characteristics of bvFTD patients to improve the detection of early symptoms in bvFTD. Methods Twenty-three possible or probable bvFTD patients were diagnosed according to International Behavioral Variant Frontotemporal Dementia Criteria Consortium (FTDC. Self-designed questionnaires designed by Shanghai Mental Health Center were used to collect sociodemographic data and general information of patients. Their clinical characteristics were summarized, including abnormal behaviors, cognitive impairment, psychotic symptoms and other symptoms. Mini-Mental State Examination (MMSE, Activities of Daily Living (ADL and Clinical Dementia Rating Scale (CDR were used to make neuropsychological tests and compare with similar overseas studies (control group, N = 66. Results Eleven male patients and 12 female patients were included in our study. Compared with control group, the average age of onset [(50.83 ± 11.55 years vs. (57.00 ± 10.00 years; t = 3.863, P = 0.000] and average age of diagnosis [(53.22 ± 11.55 years vs. (61.00 ± 9.00 years; t = 13.423, P = 0.000] of bvFTD patients were smaller. The study showed that bvFTD patients had more apathy or indolence [95.65% (22/23 vs. 65.15% (43/66; χ2 = 8.057, P = 0.005], loss of sympathy or empathy [95.65% (22/23 vs. 33.33% (22/66; χ2 = 26.499, P = 0.000], while patients in control group showed more derepression behavior [98.48% (65/66 vs. 52.17% (12/23; χ2 = 27.514, P = 0.000] and continuous, stiff, obsessive and/or ritualized behavior [95.45% (63/66 vs. 30.43% (7/23; adjusted χ2 = 39.159, P = 0.000]. For cognitive impairment, bvFTD patients

  5. Huntington disease: a case study of early onset presenting as depression.

    Science.gov (United States)

    Duesterhus, Pia; Schimmelmann, Benno Graf; Wittkugel, Oliver; Schulte-Markwort, Michael

    2004-10-01

    Huntington disease is a dominantly inherited, neurodegenerative disease characterized by choreiform movement disturbances and dementia, usually with adult onset. The rare juvenile-onset Huntington disease differs from the adult phenotype. A case presenting twice, at age 10 with all the signs of a major depression and age 14 with mutism and rigidity, is reported. Meanwhile, the father developed the adult variant of Huntington disease. The boy's diagnosis was confirmed by molecular genetic analysis and magnetic resonance imaging. It is important to be aware of hereditary conditions such as Huntington disease and to provide family counseling before genetic testing and after the diagnosis is confirmed.

  6. Effect of Early Referral to Specialist in Dementia on Institutionalization and Functional Decline: Findings from a Population-Based Study.

    Science.gov (United States)

    Pimouguet, Clément; Le-Goff, Mélanie; Rizzuto, Debora; Berr, Claudine; Leffondré, Karen; Pérès, Karine; Dartigues, Jean FranÇois; Helmer, Catherine

    2016-01-01

    Although early diagnosis has been hypothesized to benefit both patients and caregivers, until now studies evaluating the effect of early dementia diagnosis are lacking. To investigate the influence of early specialist referral for dementia on the risk of institutionalization and functional decline in Activity of Daily Living (ADL). Incident dementia cases were screened in a prospective population-based cohort, the Three-City Study, and initial specialist consultation for cognitive complaint was assessed at dementia diagnosis. Proportional hazard regression and illness-death models were used to test the association between specialist referral and, respectively, institutionalization and functional decline. Only one third of the incident individuals with dementia had consulted a specialist for cognitive problems early (36%). After adjustment on potential confounders (including cognitive and functional decline) and competing risk of death, participants who had consulted a specialist early in the disease course presented a higher rate of being institutionalized than those who did not (Hazard Ratio = 2.00, 95% Confidence Interval (CI): 1.09- 3.64). But early specialist referral was not associated with further functional decline (HR = 1.09, 95% CI: 0.71- 1.67). Early specialist referral in dementia is associated with increased risk of institutionalization but not with functional decline in ADL. These findings suggest that early care referral in dementia may be a marker of concern for patients and/or caregivers; subsequent medical and social care could be suboptimal or inappropriate to allow patients to stay longer at home.

  7. SPECT perfusion brain scintigraphy in dementia: early diagnostic and differential diagnostic

    International Nuclear Information System (INIS)

    Klisarova, A.

    2003-01-01

    The present review discusses the role of Single Photon Emission Computer Tomography (SPECT) and Positron Emission Tomography (PET) for the early detection and the differential diagnosis of the different types of dementia. The usefulness of the functional imaging is particularly emphasized in the detection of the early changes occurring in Alzheimer's diseases. The early diagnosis is a crucial factor for the treatment in the phase of reversible changes. The correlation between the severity of the diseases and the degree of hypoperfusion of the functional neuroimaging is also subject to review. SPECT and PET are of particular importance for the differential diagnosis of the various kinds of dementia. The imaging models are defined for the different stages of diseases. The functional imaging together with the clinical tests increase the diagnostic accuracy in Alzheimer's disease. The review presents the relation between the development of Alzheimer's disease and some risk factors. The review confirms the usefulness of SPECT and PET in the early diagnosis of Alzheimer's disease and the differential diagnosis of the different types of dementia which proves the SPECT appropriateness in the routine clinical practice. The brain structures are more advantageous than the other methods of visualisation (CT and MRI) for the detection of the functional disorders in the brain cortex in a number of diseases of the central nervous system. (author)

  8. Diagnostic performance of Tc-99m HMPAO SPECT for early and late onset Alzheimer's disease. A clinical evaluation of linearization correction

    International Nuclear Information System (INIS)

    Mitsumoto, Tatsuya; Sakaguchi, Yuichi; Morishita, Junji; Sasaki, Masayuki; Ohya, Nobuyoshi; Abe, Koichiro; Ichimiya, Atsushi; Kiyota, Aya

    2009-01-01

    This study examined the influence of linearization correction (LC) on brain perfusion single-photon emission computed tomography (SPECT) for the diagnosis of Alzheimer's disease (AD). The early onset group (<65 years old) consisted of 10 patients with AD, and the late onset group (≥65 years old) of 13 patients with AD. Age-matched controls included seven younger and seven older normal volunteers. Tc-99m hexamethyl propyleneamine oxine (HMPAO) SPECT images were reconstructed with or without LC [LC (+) or LC (-)] and a statistical analysis was performed using a three-dimensional stereotactic surface projection (3D-SSP). In addition, a fully automatic diagnostic system was developed, which calculated the proportion of the number of abnormal pixels in the superior and inferior parietal lobule, as well as in the precuneus and posterior cingulate gyrus. The areas under the receiver-operating characteristic curve (AUCs) of the early onset group for conventional axial SPECT images, SPECT+3D-SSP images and the fully automatic diagnostic system were 0.71, 0.88, and 0.92 in LC (-) and 0.67, 0.85, and 0.91 in LC (+), respectively. The AUCs of the late onset group were 0.50, 0.61, and 0.79 in LC (-) and 0.49, 0.67, and 0.85 in LC (+), respectively. LC on Tc-99m HMPAO SPECT did not significantly influence the diagnostic performance for differentiating between AD and normal controls in either early or late onset AD. Further examination with individuals suffering from very mild dementia is, therefore, expected to elucidate the effect of LC on minimally hypoperfused areas. (author)

  9. Transcranial magnetic stimulation in patients with early cortical dementia: A pilot study.

    Science.gov (United States)

    Issac, Thomas Gregor; Chandra, S R; Nagaraju, B C

    2013-10-01

    The diagnostic accuracy of the currently available tools carries poor sensitivity resulting in significant delay in specific diagnosis of cortical dementias. Considering the properties of default mode networking of the brain it is highly probable that specific changes may be seen in frontotemporal dementias (FTDs) and Alzheimer's disease sufficiently early. The aim of this study is to look for changes in Transcranial Magnetic Stimulation (TMS) in cortical dementia. Evaluated with a single pulse TMS with the figure of eight coil and recorded from right first dorsal interossei (FDI). Resting Motor Threshold (RMT) was estimated on the opposite motor cortex (T1). Second site of stimulation was cervical spine at C7-T2. Central motor conduction time (CMCT) is equal toT1-T2. Silent Period (SP) identified by applying TMS pulse to contracting FDI. RMT was reduced in seven out of eight Alzheimer's dementias. CMCT was in the upper limit of normal in both patients with FTD. The most consistent observation was that SP was reduced and there were escape discharges noticed during the SP suggesting increased cortical excitability and decreased cortical inhibition. This suggests probable early asymptomatic changes in the gamma-aminobutyric acid (GABA) nergic and cholinergic system is taking place. This if confirmed may give some insight into early diagnosis and therapeutic role of GABA agonists in these disorders.

  10. Association Between Exercise Capacity and Late Onset of Dementia, Alzheimer Disease, and Cognitive Impairment.

    Science.gov (United States)

    Müller, Jan; Chan, Khin; Myers, Jonathan N

    2017-02-01

    To address the association between exercise capacity and the onset of dementia, Alzheimer disease, and cognitive impairment. For 6104 consecutive veteran patients (mean ± SD age: 59.2±11.4 years) referred for treadmill exercise testing, the combined end point of dementia, Alzheimer disease, and cognitive impairment was abstracted from the Veterans Affairs computerized patient record system. After mean ± SD follow-up of 10.3±5.5 years, 353 patients (5.8%) developed the composite end point at a mean ± SD age of 76.7±10.3 years. After correction for confounders in multivariate Cox proportional hazards regression, higher age at exercise testing (hazard ratio [HR]=1.08; 95% CI, 1.07-1.09; P<.001), current smoking (HR=1.44; 95% CI, 1.08-1.93; P=.01), and exercise capacity (HR=0.92; 95% CI, 0.89-0.96; P<.001) emerged as predictors of cognitive impairment. Each 1-metabolic equivalent increase in exercise capacity conferred a nearly 8% reduction in the incidence of cognitive impairment. Meeting the recommendations for daily activity was not associated with a delay in onset of cognitive impairment (HR=1.07; 95% CI, 0.86-1.32; P=.55). Exercise capacity is strongly associated with cognitive function; the inverse association between fitness and cognitive impairment provides an additional impetus for health care providers to promote physical activity. Copyright © 2016 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

  11. Early- versus Late-Onset Dysthymia: A Meaningful Clinical Distinction?

    OpenAIRE

    Sansone, Randy A.; Sansone, Lori A.

    2009-01-01

    In the current Diagnostic and Statistical Manual of Mental Disorders, dysthymic disorder is categorized as either early-onset or late-onset, based upon the emergence of symptoms before or after the age of 21, respectively. Does this diagnostic distinction have any meaningful clinical implications? In this edition of The Interface, we present empirical studies that have, within a single study, compared individuals with early-versus late-onset dysthymia. In this review, we found that, compared ...

  12. Strong family history and early onset of schizophrenia: about 2 ...

    African Journals Online (AJOL)

    Schizophrenia is a highly heritable psychotic disorder and high genetic loading is associated with early onset of the disease. The outcome of schizophrenia has also been linked with the age of onset as well as the presence of family history of the disease. Therefore families with patients with early onset Schizophrenia are ...

  13. Widespread disruption of functional brain organization in early-onset Alzheimer's disease.

    Directory of Open Access Journals (Sweden)

    Sofie M Adriaanse

    Full Text Available Early-onset Alzheimer's disease (AD patients present a different clinical profile than late-onset AD patients. This can be partially explained by cortical atrophy, although brain organization might provide more insight. The aim of this study was to examine functional connectivity in early-onset and late-onset AD patients. Resting-state fMRI scans of 20 early-onset (<65 years old, 28 late-onset (≥65 years old AD patients and 15 "young" (<65 years old and 31 "old" (≥65 years old age-matched controls were available. Resting-state network-masks were used to create subject-specific maps. Group differences were examined using a non-parametric permutation test, accounting for gray-matter. Performance on five cognitive domains were used in a correlation analysis with functional connectivity in AD patients. Functional connectivity was not different in any of the RSNs when comparing the two control groups (young vs. old controls, which implies that there is no general effect of aging on functional connectivity. Functional connectivity in early-onset AD was lower in all networks compared to age-matched controls, where late-onset AD showed lower functional connectivity in the default-mode network. Functional connectivity was lower in early-onset compared to late-onset AD in auditory-, sensory-motor, dorsal-visual systems and the default mode network. Across patients, an association of functional connectivity of the default mode network was found with visuoconstruction. Functional connectivity of the right dorsal visual system was associated with attention across patients. In late-onset AD patients alone, higher functional connectivity of the sensory-motor system was associated with poorer memory performance. Functional brain organization was more widely disrupted in early-onset AD when compared to late-onset AD. This could possibly explain different clinical profiles, although more research into the relationship of functional connectivity and cognitive

  14. Does Bilingualism Delay the Development of Dementia?

    OpenAIRE

    Amy L Atkinson

    2016-01-01

    It has been suggested that bilingualism (where individuals speak two languages) may delay the development of dementia. However, much of the research is inconclusive. Some researchers have reported that bilingualism delays the onset and diagnosis of dementia, whilst other studies have found weak or even detrimental effects. This paper reviews a series of nine empirical studies, published up until March 2016, which investigated whether bilingualism significantly delays the onset of dementia. Th...

  15. [Early-onset and late-onset male hypogonadotropic hypogonadism and osteoporosis].

    Science.gov (United States)

    Okada, Hiroshi; Shin, Takeshi; Kobori, Yoshitomo

    2016-07-01

    Hypogonadism is classified into two major clinical entities, namely early-onset hypogonadism and late-onset hypogonadism. The former is characterized by the malfunction of hypothalamo-pituitary-gonadal(testicular)axis or by the primary hypofunction of testes(e.g. Klinefelter's syndrome). The latter is summarized as LOH syndrome which is attributed to the dropped level of bioavailable testosterone. In these diseases testosterone is the key molecule which may cause various symptoms relating not only to physical health but also to mental or psychologic health. In this review issues concerning bone health in these disease are described.

  16. Transcranial magnetic stimulation in patients with early cortical dementia: A pilot study

    Directory of Open Access Journals (Sweden)

    Thomas Gregor Issac

    2013-01-01

    Full Text Available Context: The diagnostic accuracy of the currently available tools carries poor sensitivity resulting in significant delay in specific diagnosis of cortical dementias. Considering the properties of default mode networking of the brain it is highly probable that specific changes may be seen in frontotemporal dementias (FTDs and Alzheimer′s disease sufficiently early. Aim: The aim of this study is to look for changes in Transcranial Magnetic Stimulation (TMS in cortical dementia. Materials and Methods: Evaluated with a single pulse TMS with the figure of eight coil and recorded from right first dorsal interossei (FDI. Resting Motor Threshold (RMT was estimated on the opposite motor cortex (T1. Second site of stimulation was cervical spine at C7-T2. Central motor conduction time (CMCT is equal toT1-T2.Silent Period (SP identified by applying TMS pulse to contracting FDI. Conclusions: RMT was reduced in seven out of eight Alzheimer′s dementias. CMCT was in the upper limit of normal in both patients with FTD. The most consistent observation was that SP was reduced and there were escape discharges noticed during the SP suggesting increased cortical excitability and decreased cortical inhibition. This suggests probable early asymptomatic changes in the gamma-aminobutyric acid (GABA nergic and cholinergic system is taking place. This if confirmed may give some insight into early diagnosis and therapeutic role of GABA agonists in these disorders.

  17. Does Bilingualism Delay the Development of Dementia?

    Directory of Open Access Journals (Sweden)

    Amy L Atkinson

    2016-08-01

    Full Text Available It has been suggested that bilingualism (where individuals speak two languages may delay the development of dementia. However, much of the research is inconclusive. Some researchers have reported that bilingualism delays the onset and diagnosis of dementia, whilst other studies have found weak or even detrimental effects. This paper reviews a series of nine empirical studies, published up until March 2016, which investigated whether bilingualism significantly delays the onset of dementia. The article also explores whether the inconsistent findings can be attributed to differences in study designs or the definitions of bilingualism used between studies. Based on current evidence, it appears that lifelong bilingualism, where individuals frequently use both languages, may be protective against dementia. However, becoming bilingual in adulthood or using the second language infrequently is unlikely to substantially delay onset of the disease.

  18. Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data.

    Science.gov (United States)

    Goselink, Rianne J M; Voermans, Nicol C; Okkersen, Kees; Brouwer, Oebele F; Padberg, George W; Nikolic, Ana; Tupler, Rossella; Dorobek, Malgorzata; Mah, Jean K; van Engelen, Baziel G M; Schreuder, Tim H A; Erasmus, Corrie E

    2017-12-01

    Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral dystrophy (FSHD) patients. Although small series of early onset FSHD patients have been reported, comprehensive data on the clinical phenotype is missing. We performed a systematic literature search on the clinical features of early onset FSHD comprising a total of 43 articles with individual data on 227 patients. Additional data from four cohorts was provided by the authors. Mean age at reporting was 18.8 years, and 40% of patients were wheelchair-dependent at that age. Half of the patients had systemic features, including hearing loss (40%), retinal abnormalities (37%) and developmental delay (8%). We found an inverse correlation between repeat size and disease severity, similar to adult-onset FSHD. De novo FSHD1 mutations were more prevalent than in adult-onset FSHD. Compared to adult FSHD, our findings indicate that early onset FSHD is overall characterized by a more severe muscle phenotype and a higher prevalence of systemic features. However, similar as in adults, a significant clinical heterogeneity was observed. Based on this, we consider early onset FSHD to be on the severe end of the FSHD disease spectrum. We found natural history studies and treatment studies to be very scarce in early onset FSHD, therefore longitudinal studies are needed to improve prognostication, clinical management and trial-readiness. Copyright © 2017 Elsevier B.V. All rights reserved.

  19. Intraspinal anomalies in early-onset idiopathic scoliosis.

    Science.gov (United States)

    Pereira, E A C; Oxenham, M; Lam, K S

    2017-06-01

    In the United Kingdom, lower incidences of intraspinal abnormalities in patients with early onset idiopathic scoliosis have been observed than in studies in other countries. We aimed to determine the rates of these abnormalities in United Kingdom patients diagnosed with idiopathic scoliosis before the age of 11 years. This retrospective study of patients attending an urban scoliosis clinic identified 71 patients satisfying a criteria of: clinical diagnosis of idiopathic scoliosis; age of onset ten years and 11 months or less; MRI screening for intraspinal abnormalities. United Kingdom census data combined with patient referral data was used to calculate incidence. Mean age at diagnosis was six years with 39 right-sided and 32 left-sided curves. Four patients (5.6%) were found to have intraspinal abnormalities on MRI. These consisted of: two combined Arnold-Chiari type 1 malformations with syrinx; one syrinx with a low lying conus; and one isolated syrinx. Overall annual incidence of early onset idiopathic scoliosis was one out of 182 000 (0.0006%). This study reports the lowest rates to date of intraspinal anomalies in patients with early onset idiopathic scoliosis, adding to knowledge regarding current incidences of these abnormalities as well as any geographical variation in the nature of the disease. Cite this article: Bone Joint J 2017;99-B:829-33. ©2017 The British Editorial Society of Bone & Joint Surgery.

  20. Cyanotype: Workshops for people with early dementia

    OpenAIRE

    Moreno Sáez, María del Carmen; Gutiérrez-Párraga, Teresa; Saavedra Macías, Francisco Javier (Coordinador); Español Nogueiro, Alicia (Coordinador); Arias Sánchez, Samuel (Coordinador); Calderón García, Marina (Coordinador)

    2017-01-01

    The workshop "Cyanotype: Workshops for people with early dementia", carried out at the 5th International Conference on Health Humanities introduced the cyanotype. The cyanotype is a 19th century photographic technique that the research project used as a way for preventing the decline of faculties of people living with diseases that provoke memory loss. The activities carried out in the cyanotype workshop at the Conference were based on the creation of photographic images that could be interve...

  1. Genetics Home Reference: early-onset glaucoma

    Science.gov (United States)

    ... called a syndrome. If glaucoma appears before the age of 5 without other associated abnormalities, it is called primary congenital glaucoma. Other individuals experience early onset of primary open-angle glaucoma, the most ...

  2. Does early-onset multiple sclerosis differ from adult-onset form in Iranian people

    Directory of Open Access Journals (Sweden)

    Fereshteh Ashtari

    2010-01-01

    Full Text Available Background: Few studies have attempted to delineate the clinical profile of multiple Sclerosis (MS among people of Asia. This study sought to identify the characteristics of early-onset Multiple Sclerosis (EOMS comparison to adult-onset form (AOMS in Isfahan, IRAN. Methods: This prospective study was conducted on 104 youths with multiple sclerosis beginning before the age of 16 years and 123 patients with adult-onset multiple sclerosis. Patients were observed for a mean period of 5 years. The common presenting symptoms, MRI finding, course of disease and disability score were compared between the two groups. Results: The mean onset age of disease in youths and adults were 14 ± 1.9 and 27.7 ± 8.06 years, respectively. Female/male ratio was 4.47:1 in EOMS and 3.92:1 in AOMS, this ratio was 7:1 in early childhood MS (≤ 10 year. The most common presenting symptom was optic neuritis in the EOMS group and paresthesia in AOMS. Optic neuritis was common in AOMS too, but brainstem/cerebellar signs were more common in EOMS than AOMS. Seizure occurred more frequently in EOMS than in the AOMS group (12.6% vs. 1.6%, respectively, p < 0.001. MRI showed that brainstem plaques were more prevalent in the EOMS compared with the AOMS group. Conclusions: It was concluded that early-onset MS does not significantly differ from adult form in terms of major clinical manifestation and course of disease, however Seizure is more common in EOMS, and brainstem and cerebellar symptoms as presenting symptom are more common.

  3. Subcortical grey matter changes in untreated, early stage Parkinson's disease without dementia.

    Science.gov (United States)

    Lee, Hye Mi; Kwon, Kyum-Yil; Kim, Min-Jik; Jang, Ji-Wan; Suh, Sang-Il; Koh, Seong-Beom; Kim, Ji Hyun

    2014-06-01

    Previous MRI studies have investigated cortical or subcortical grey matter changes in patients with Parkinson's disease (PD), yielding inconsistent findings between the studies. We therefore sought to determine whether focal cortical or subcortical grey matter changes may be present from the early disease stage. We recruited 49 untreated, early stage PD patients without dementia and 53 control subjects. Voxel-based morphometry was used to evaluate cortical grey matter changes, and automated volumetry and shape analysis were used to assess volume changes and shape deformation of the subcortical grey matter structures, respectively. Voxel-based morphometry showed neither reductions nor increases in grey matter volume in patients compared to controls. Compared to controls, PD patients had significant reductions in adjusted volumes of putamen, nucleus accumbens, and hippocampus (corrected p grey matter and clinical variables representing disease duration and severity. Our results suggest that untreated, early stage PD without dementia is associated with volume reduction and shape deformation of subcortical grey matter, but not with cortical grey matter reduction. Our findings of structural changes in the posterolateral putamen and ventromedial putamen/nucleus accumbens could provide neuroanatomical basis for the involvement of motor and limbic striatum, further implicating motor and non-motor symptoms in PD, respectively. Early hippocampal involvement might be related to the risk for developing dementia in PD patients. Copyright © 2014 Elsevier Ltd. All rights reserved.

  4. Falls and Fall Prevention in Older Adults With Early-Stage Dementia: An Integrative Review.

    Science.gov (United States)

    Lach, Helen W; Harrison, Barbara E; Phongphanngam, Sutthida

    2017-05-01

    Older adults with mild cognitive impairment (MCI) and early-stage dementia have an increased risk of falling, with risks to their health and quality of life. The purpose of the current integrative review was to evaluate evidence on fall risk and fall prevention in this population. Studies were included if they examined falls or fall risk factors in older adults with MCI or early-stage dementia, or reported interventions in this population; 40 studies met criteria. Evidence supports the increased risk of falls in individuals even in the early stages of dementia or MCI, and changes in gait, balance, and fear of falling that may be related to this increased fall risk. Interventions included exercise and multifactorial interventions that demonstrated some potential to reduce falls in this population. Few studies had strong designs to provide evidence for recommendations. Further study in this area is warranted. [Res Gerontol Nurs. 2017; 10(03):139-148.]. Copyright 2016, SLACK Incorporated.

  5. Early onset obsessive-compulsive disorder with and without tics.

    Science.gov (United States)

    de Mathis, Maria Alice; Diniz, Juliana B; Shavitt, Roseli G; Torres, Albina R; Ferrão, Ygor A; Fossaluza, Victor; Pereira, Carlos; Miguel, Eurípedes; do Rosario, Maria Conceicão

    2009-07-01

    Research suggests that obsessive-compulsive disorder (OCD) is not a unitary entity, but rather a highly heterogeneous condition, with complex and variable clinical manifestations. The aims of this study were to compare clinical and demographic characteristics of OCD patients with early and late age of onset of obsessive-compulsive symptoms (OCS); and to compare the same features in early onset OCD with and without tics. The independent impact of age at onset and presence of tics on comorbidity patterns was investigated. Three hundred and thirty consecutive outpatients meeting Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria for OCD were evaluated: 160 patients belonged to the "early onset" group (EOG): before 11 years of age, 75 patients had an "intermediate onset" (IOG), and 95 patients were from the "late onset" group (LOG): after 18 years of age. From the 160 EOG, 60 had comorbidity with tic disorders. The diagnostic instruments used were: the Yale-Brown Obsessive Compulsive Scale and the Dimensional Yale-Brown Obsessive Compulsive Scale (DY-BOCS), Yale Global Tics Severity Scale, and Structured Clinical Interview for DSM-IV Axis I Disorders-patient edition. Statistical tests used were: Mann-Whitney, full Bayesian significance test, and logistic regression. The EOG had a predominance of males, higher frequency of family history of OCS, higher mean scores on the "aggression/violence" and "miscellaneous" dimensions, and higher mean global DY-BOCS scores. Patients with EOG without tic disorders presented higher mean global DY-BOCS scores and higher mean scores in the "contamination/cleaning" dimension. The current results disentangle some of the clinical overlap between early onset OCD with and without tics.

  6. VGKC positive autoimmune encephalopathy mimicking dementia.

    LENUS (Irish Health Repository)

    Molloy, Anna

    2011-01-01

    Voltage gated potassium channel antibodies (VGKC Abs) are known to cause three rare neurological syndromes- neuromyotonia, Morvan\\'s syndrome and limbic encephalitis although an increasing array of other associated neurological symptoms are becoming recognised. The authors describe the case of a 60-year-old female who presented to the neurology clinic with an apparent early onset dementing process. She was noted to have both extrapyramidal and frontal release signs on examination and was admitted for further evaluation. Her dementia investigation including a neoplastic screen was negative except for VGKC antibody positivity. Her symptoms dramatically improved with commencement of immunosuppression. A non-paraneoplastic VGKC antibody associated dementia-like syndrome has rarely been described. The authors add to the few existing reports of what represents an important reversible cause of cognitive impairment.

  7. VGKC positive autoimmune encephalopathy mimicking dementia.

    Science.gov (United States)

    Molloy, Anna; Cassidy, Eugene; Ryan, Aisling; O' Toole, Orna

    2011-12-01

    Voltage gated potassium channel antibodies (VGKC Abs) are known to cause three rare neurological syndromes- neuromyotonia, Morvan's syndrome and limbic encephalitis although an increasing array of other associated neurological symptoms are becoming recognised. The authors describe the case of a 60-year-old female who presented to the neurology clinic with an apparent early onset dementing process. She was noted to have both extrapyramidal and frontal release signs on examination and was admitted for further evaluation. Her dementia investigation including a neoplastic screen was negative except for VGKC antibody positivity. Her symptoms dramatically improved with commencement of immunosuppression. A non-paraneoplastic VGKC antibody associated dementia-like syndrome has rarely been described. The authors add to the few existing reports of what represents an important reversible cause of cognitive impairment.

  8. FDG PET imaging dementia

    Energy Technology Data Exchange (ETDEWEB)

    Ahn, Byeong Cheol [Kyungpook National University Medical School and Kyungpook National University Hospital, Daegu (Korea, Republic of)

    2007-04-15

    Dementia is a major burden for many countries including South Korea, where life expectancy is continuously growing and the proportion of aged people is rapidly growing. Neurodegenerative disorders, such as, Alzheimer disease, dementia with Lewy bodies, frontotemporal dementia. Parkinson disease, progressive supranuclear palsy, corticobasal degeneration, Huntington disease, can cause dementia, and cerebrovascular disease also can cause dementia. Depression or hypothyroidism also can cause cognitive deficits, but they are reversible by management of underlying cause unlike the forementioned dementias. Therefore these are called pseudodementia. We are entering an era of dementia care that will be based upon the identification of potentially modifiable risk factors and early disease markers, and the application of new drugs postpone progression of dementias or target specific proteins that cause dementia. Efficient pharmacologic treatment of dementia needs not only to distinguish underlying causes of dementia but also to be installed as soon as possible. Therefore, differential diagnosis and early diagnosis of dementia are utmost importance. F-18 FDG PET is useful for clarifying dementing diseases and is also useful for early detection of the disease. Purpose of this article is to review the current value of FDG PET for dementing diseases including differential diagnosis of dementia and prediction of evolving dementia.

  9. FDG PET imaging dementia

    International Nuclear Information System (INIS)

    Ahn, Byeong Cheol

    2007-01-01

    Dementia is a major burden for many countries including South Korea, where life expectancy is continuously growing and the proportion of aged people is rapidly growing. Neurodegenerative disorders, such as, Alzheimer disease, dementia with Lewy bodies, frontotemporal dementia. Parkinson disease, progressive supranuclear palsy, corticobasal degeneration, Huntington disease, can cause dementia, and cerebrovascular disease also can cause dementia. Depression or hypothyroidism also can cause cognitive deficits, but they are reversible by management of underlying cause unlike the forementioned dementias. Therefore these are called pseudodementia. We are entering an era of dementia care that will be based upon the identification of potentially modifiable risk factors and early disease markers, and the application of new drugs postpone progression of dementias or target specific proteins that cause dementia. Efficient pharmacologic treatment of dementia needs not only to distinguish underlying causes of dementia but also to be installed as soon as possible. Therefore, differential diagnosis and early diagnosis of dementia are utmost importance. F-18 FDG PET is useful for clarifying dementing diseases and is also useful for early detection of the disease. Purpose of this article is to review the current value of FDG PET for dementing diseases including differential diagnosis of dementia and prediction of evolving dementia

  10. Family members' experience of the pre-diagnostic phase of dementia: a synthesis of qualitative evidence.

    Science.gov (United States)

    Rogers, Kirrily; Coleman, Honor; Brodtmann, Amy; Darby, David; Anderson, Vicki

    2017-09-01

    Most research on family members' experience of dementia has focused on the time after diagnosis. Yet, once people reach clinical attention, families have already been living with the changes for some time. These pre-diagnosis experiences can influence later caregiving. We aimed to synthesize qualitative research exploring family members' experiences of the pre-diagnostic phase of dementia to inform clinical practice. We conducted a thematic synthesis of 11 studies that met our inclusion criteria following a comprehensive literature search. An overarching theme, sense-making, captured the primary process that family members engage in throughout the pre-diagnostic period. Within this, four major analytic themes were extracted as central concepts in understanding family members' experiences of the pre-diagnostic phase of dementia: the nature of change; appraisals of change; reactions to change; and the influence of others. Relevant features of the family experience of dementia onset can be characterized within several major themes. These findings highlight the complex process of recognizing early symptoms of dementia for people living with this condition and their families. Our findings also provide the foundation for developing theoretical frameworks that will ultimately assist with improving recognition of dementia onset, clinical communication with family members, and interventions to reduce family burden.

  11. Modeling Late-Onset Sporadic Alzheimer’s Disease through BMI1 Deficiency

    Directory of Open Access Journals (Sweden)

    Anthony Flamier

    2018-05-01

    Full Text Available Late-onset sporadic Alzheimer’s disease (AD is the most prevalent form of dementia, but its origin remains poorly understood. The Bmi1/Ring1 protein complex maintains transcriptional repression of developmental genes through histone H2A mono-ubiquitination, and Bmi1 deficiency in mice results in growth retardation, progeria, and neurodegeneration. Here, we demonstrate that BMI1 is silenced in AD brains, but not in those with early-onset familial AD, frontotemporal dementia, or Lewy body dementia. BMI1 expression was also reduced in cortical neurons from AD patient-derived induced pluripotent stem cells but not in neurons overexpressing mutant APP and PSEN1. BMI1 knockout in human post-mitotic neurons resulted in amyloid beta peptide secretion and deposition, p-Tau accumulation, and neurodegeneration. Mechanistically, BMI1 was required to repress microtubule associated protein tau (MAPT transcription and prevent GSK3beta and p53 stabilization, which otherwise resulted in neurodegeneration. Restoration of BMI1 activity through genetic or pharmaceutical approaches could represent a therapeutic strategy against AD.

  12. Type 2 diabetes mellitus as a risk factor for dementia in a Mexican population.

    Science.gov (United States)

    Salinas, Rosa María; Hiriart, Marcia; Acosta, Isaac; Sosa, Ana Luisa; Prince, Martin J

    2016-01-01

    Type 2 diabetes mellitus (T2DM) and dementia increase with age. Different studies have explored their association, but the possible relationship between them is still unclear. This is an analysis of the 10/66 Dementia Research Group (DRG) Mexico database; the sample comprised 1193 subjects ≥65 years old followed-up for three years. We calculated the incidence of dementia in subjects with diabetes using three models of analysis. T2DM patients have nearly twice the risk of developing dementia (RR 1.9; 95% CI 1.3-2.6) after three years of follow-up. The incidence of dementia is higher in subjects with undiagnosed diabetes. Higher serum glucose levels have a stronger association with dementia. It is important to implement early evaluation and monitoring cognitive performance in elders with diabetes to identify minor cognitive impairment and undertake timely interventions to prevent or delay the onset of dementia. Copyright © 2016 Elsevier Inc. All rights reserved.

  13. Early onset marijuana use is associated with learning inefficiencies.

    Science.gov (United States)

    Schuster, Randi Melissa; Hoeppner, Susanne S; Evins, A Eden; Gilman, Jodi M

    2016-05-01

    Verbal memory difficulties are the most widely reported and persistent cognitive deficit associated with early onset marijuana use. Yet, it is not known what memory stages are most impaired in those with early marijuana use. Forty-eight young adults, aged 18-25, who used marijuana at least once per week and 48 matched nonusing controls (CON) completed the California Verbal Learning Test, Second Edition (CVLT-II). Marijuana users were stratified by age of initial use: early onset users (EMJ), who started using marijuana at or before age 16 (n = 27), and late onset marijuana user group (LMJ), who started using marijuana after age 16 (n = 21). Outcome variables included trial immediate recall, total learning, clustering strategies (semantic clustering, serial clustering, ratio of semantic to serial clustering, and total number of strategies used), delayed recall, and percent retention. Learning improved with repetition, with no group effect on the learning slope. EMJ learned fewer words overall than LMJ or CON. There was no difference between LMJ and CON in total number of words learned. Reduced overall learning mediated the effect on reduced delayed recall among EMJ, but not CON or LMJ. Learning improved with greater use of semantic versus serial encoding, but this did not vary between groups. EMJ was not related to delayed recall after adjusting for encoding. Young adults reporting early onset marijuana use had learning weaknesses, which accounted for the association between early onset marijuana use and delayed recall. No amnestic effect of marijuana use was observed. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

  14. Depression is linked to dementia in older adults.

    Science.gov (United States)

    Valkanova, Vyara; Ebmeier, Klaus P; Allan, Charlotte L

    2017-01-01

    Depression and dementia are both common conditions in older people, and they frequently occur together. Late life depression affects about 3.0-4.5% of adults aged 65 and older. Depression occurs in up to 20% of patients with Alzheimer’s disease and up to 45% of patients with vascular dementia. Rather than a risk factor, depression with onset in later life is more likely to be either prodromal to dementia or a condition that unmasks pre-existing cognitive impairment by compromising cognitive reserve. Depression can be a psychological response to receiving a diagnosis of dementia. The distinction between depression and early dementia may be particularly difficult. Detailed histories obtained from patients and their relatives as well as longitudinal follow-up are important. Cognitive testing can be very helpful. It is preferable to use a neuropsychological test that is sensitive to subtle cognitive changes and assesses all cognitive domains, such as the Montreal Cognitive Assessment. Older people with depression are at raised risk of dementia and this risk is increased if they have had symptoms for a long time, if their symptoms are severe, where there are multiple (vascular) comorbidities, and where there are structural brain changes including hippocampal atrophy and white matter abnormalities.

  15. New cardiovascular targets to prevent late onset Alzheimer disease.

    Science.gov (United States)

    Claassen, Jurgen A H R

    2015-09-15

    The prevalence of dementia rises to between 20% and 40% with advancing age. The dominant cause of dementia in approximately 70% of these patients is Alzheimer disease. There is no effective disease-modifying pharmaceutical treatment for this neurodegenerative disease. A wide range of Alzheimer drugs that appeared effective in animal models have recently failed to show clinical benefit in patients. However, hopeful news has emerged from recent studies that suggest that therapeutic strategies aimed at reducing cardiovascular disease may also reduce the prevalence of dementia due to Alzheimer disease. This review summarizes the evidence for this link between cardiovascular disease and late onset Alzheimer dementia. Only evidence from human research is considered here. Longitudinal studies show an association between high blood pressure and pathological accumulation of the protein amyloid-beta42, and an even stronger association between vascular stiffness and amyloid accumulation, in elderly subjects. Amyloid-beta42 accumulation is considered to be an early marker of Alzheimer disease, and increases the risk of subsequent cognitive decline and development of dementia. These observations could provide an explanation for recent observations of reduced dementia prevalence associated with improved cardiovascular care. Copyright © 2015 Elsevier B.V. All rights reserved.

  16. Hypothalamic-pituitary-adrenal axis activity and early onset of cannabis use

    NARCIS (Netherlands)

    Huizink, Anja C.; Ferdinand, Robert F.; Ormel, Johan; Verhulst, Frank C.

    Aims To identify early onset cannabis users by measuring basal hypothalamic-pituitary-adrenal (HPA) axis activity, which may be a risk factor for early onset substance use when showing low activity. Design In a prospective cohort study, adolescents who initiated cannabis use at an early age (9-12

  17. Clinical correlates of first episode early onset psychosis in KwaZulu ...

    African Journals Online (AJOL)

    Background: The study of first episode early onset psychosis can yield many clues to understanding the early development of psychosis and guide interventions to decrease psychosis risk and improve outcome. The aim of the study was to investigate the socio-demographic profile and clinical correlates in early onset ...

  18. Hypothalamic-pituitary-adrenal axis activity and early onset of cannabis use

    NARCIS (Netherlands)

    Huizink, Anja C.; Ferdinand, Robert F.; Ormel, Johan; Verhulst, Frank C.

    2006-01-01

    Aims To identify early onset cannabis users by measuring basal hypothalamic-pituitary-adrenal (HPA) axis activity, which may be a risk factor for early onset substance use when showing low activity. Design In a prospective cohort study, adolescents who initiated cannabis use at an early age (9-12

  19. Brain Serotonergic and Noradrenergic Deficiencies in Behavioral Variant Frontotemporal Dementia Compared to Early-Onset Alzheimer's Disease

    NARCIS (Netherlands)

    Vermeiren, Yannick; Janssens, Jana; Aerts, Tony; Martin, Jean-Jacques; Sieben, Anne; Van Dam, Debby; De Deyn, Peter P.

    2016-01-01

    Routinely prescribed psychoactive drugs in behavioral variant frontotemporal dementia (FTD) for improvement of (non) cognitive symptoms are primarily based on monoamine replacement or augmentation strategies. These were, however, initially intended to symptomatically treat other degenerative,

  20. Differential Neurodevelopmental Trajectories in Patients With Early-Onset Bipolar and Schizophrenia Disorders

    Science.gov (United States)

    Arango, Celso

    2014-01-01

    Schizophrenia and bipolar disorders share not only clinical features but also some risk factors such as genetic markers and childhood adversity, while other risk factors such as urbanicity and obstetric complications seem to be specific to schizophrenia. An intriguing question is whether the well-established abnormal neurodevelopment present in many children and adolescents who eventually develop schizophrenia is also present in bipolar patients. The literature on adult bipolar patients is controversial. We report data on a subgroup of patients with pediatric-onset psychotic bipolar disorder who seem to share some developmental trajectories with patients with early-onset schizophrenia. These early-onset psychotic bipolar patients have low intelligence quotient, more neurological signs, reduced frontal gray matter at the time of their first psychotic episode, and greater brain changes than healthy controls in a pattern similar to early-onset schizophrenia cases. However, patients with early-onset schizophrenia seem to have more social impairment, developmental abnormalities (eg, language problems), and lower academic achievement in childhood than early-onset bipolar patients. We suggest that some of these abnormal developmental trajectories are more related to the phenotypic features (eg, early-onset psychotic symptoms) of these 2 syndromes than to categorically defined Diagnostic and Statistical Manual of Mental Disorders disorders. PMID:24371326

  1. Early-onset childhood sarcoidosis: a case report

    Directory of Open Access Journals (Sweden)

    Lai-San Wong

    2011-12-01

    Full Text Available Sarcoidosis is a multisystemic granulomatous disease of unknown etiology and it most commonly affects young adults. Childhood sarcoidosis is relatively rare; older children usually present a picture similar to that of adults, with frequent hilar lymphadenopathy and pulmonary infiltration. Early-onset (<4 years of age childhood sarcoidosis is a unique disease and has a different presentation. It is characterized by arthritis, uveitis, and cutaneous involvement. The prognosis of early-onset childhood sarcoidosis varies in different studies due to the rarity of the disease. The treatment of choice in systemic involvement of childhood sarcoidosis is corticosteroids. Methotrexate can also be considered in the long-term treatment due to its safety, effectiveness, and steroid-sparing effect in children.

  2. Benefits and burdens: family caregivers' experiences of assistive technology (AT) in everyday life with persons with young-onset dementia (YOD).

    Science.gov (United States)

    Holthe, Torhild; Jentoft, Rita; Arntzen, Cathrine; Thorsen, Kirsten

    2017-09-11

    People with dementia and their family caregivers may benefit from assistive technology (AT), but knowledge is scarce about family carers' (FC) experiences and involvement in the use of AT in everyday life. To examine the FC roles and experiences with AT as means of supporting people with young onset-dementia (YOD). Qualitative interview study with follow-up design. Repeated semi-structured interviews were conducted with 13 FC of people with YOD, participating in an ongoing intervention study investigating the families' use and experiences of AT in everyday life. Six main themes emerged: (1) timely information about AT; (2) waiting times; (3) AT incorporated into everyday living; (4) AT experienced as a relief and burden; (5) appraisal of AT qualities and (6) the committed caregiver. The study found benefits for the FC, especially with simply designed AT, but also several barriers for successful use. A committed caregiver is vital throughout the process. Users will need professional advice and support, and occupational therapists may have a significant role in the process. Interventions implementing AT must be based on analysis of the needs of the person with YOD and the carers: their capabilities, preferences, embodied habits, and coping strategies. Implications for Rehabilitation Committed family carers (FC) play an important, often decisive, role in providing support for the person with young-onset dementia (YOD, onset <65 years) to use and benefit from the AT. The simpler the AT, the better. The AT should be introduced at "the right time", before the cognitive and adaptive reduction is too great. The "window" for implementation may be short. AT has potential to ease caregiving and give relief for FC. However, many barriers, difficulties and problems must be attended to. A system for individualized support over time is necessary for implementing AT for this group.

  3. Dementia and driving.

    Science.gov (United States)

    O'Neill, D; Neubauer, K; Boyle, M; Gerrard, J; Surmon, D; Wilcock, G K

    1992-04-01

    Many European countries test cars, but not their drivers, as they age. There is evidence to suggest that human factors are more important than vehicular factors as causes of motor crashes. The elderly also are involved in more accidents per distance travelled than middle-aged drivers. As the UK relies on self-certification of health by drivers over the age of 70 years, we examined the driving practices of patients with dementia attending a Memory Clinic. Nearly one-fifth of 329 patients with documented dementia continued to drive after the onset of dementia, and impaired driving ability was noted in two-thirds of these. Their families experienced great difficulty in persuading patients to stop driving, and had to invoke outside help in many cases. Neuropsychological tests did not help to identify those who drove badly while activity of daily living scores were related to driving ability. These findings suggest that many patients with dementia drive in an unsafe fashion after the onset of the illness. The present system of self-certification of health by the elderly for driver-licensing purposes needs to be reassessed.

  4. Down Syndrome and Dementia: Is Depression a Confounder for Accurate Diagnosis and Treatment?

    Science.gov (United States)

    Wark, Stuart; Hussain, Rafat; Parmenter, Trevor

    2014-01-01

    The past century has seen a dramatic improvement in the life expectancy of people with Down syndrome. However, research has shown that individuals with Down syndrome now have an increased likelihood of early onset dementia. They are more likely than their mainstream peers to experience other significant co-morbidities including mental health…

  5. Comorbidity of dementia with amyotrophic lateral sclerosis (ALS): insights from a large multicenter Italian cohort.

    Science.gov (United States)

    Trojsi, Francesca; Siciliano, Mattia; Femiano, Cinzia; Santangelo, Gabriella; Lunetta, Christian; Calvo, Andrea; Moglia, Cristina; Marinou, Kalliopi; Ticozzi, Nicola; Drago Ferrante, Gianluca; Scialò, Carlo; Sorarù, Gianni; Conte, Amelia; Falzone, Yuri M; Tortelli, Rosanna; Russo, Massimo; Sansone, Valeria Ada; Chiò, Adriano; Mora, Gabriele; Poletti, Barbara; Volanti, Paolo; Caponnetto, Claudia; Querin, Giorgia; Sabatelli, Mario; Riva, Nilo; Logroscino, Giancarlo; Messina, Sonia; Fasano, Antonio; Monsurrò, Maria Rosaria; Tedeschi, Gioacchino; Mandrioli, Jessica

    2017-11-01

    To assess the association, at diagnosis, between amyotrophic lateral sclerosis (ALS) and dementia in a large cohort of well-characterized Italian patients. We investigated the phenotypic profile of 1638 incident patients with definite, probable or laboratory-supported probable ALS, diagnosed from January 2009 to December 2013 in 13 Italian Referral Centers, located in 10 Italian Regions, and classified in two independent subsamples accounting for presence or not of dementia. The collected ALS features, including survival and other follow-up data, were compared between the two subgroups using a one-way analysis of variance and Chi-square test, as appropriate, logistic regression models and Kaplan-Meier survival analysis. Between-subgroup comparisons showed an older age at clinical observation (p = .006), at onset and at diagnosis (p = .002) in demented versus non demented ALS patients. After adjustment for these variables, diagnosis of dementia was significantly associated with higher odds of family history of ALS (p = .001) and frontotemporal dementia (p = .003) and of bulbar onset (p = .004), and lower odds of flail leg phenotype (p = .019) and spinal onset (p = .008). The median survival time was shorter in demented versus non-demented patients, especially in case of classical, bulbar and flail limb phenotypes and both bulbar and spinal onset. Our multicenter study emphasized the importance of an early diagnosis of comorbid dementia in ALS patients, which may have clinical impact and prognostic relevance. Moreover, our results may give further inputs to validation of ALS-specific tools for the screening of cognitive impairment in clinical practice.

  6. Atypical antipsychotics in the treatment of early-onset schizophrenia

    Directory of Open Access Journals (Sweden)

    Hrdlicka M

    2015-04-01

    Full Text Available Michal Hrdlicka, Iva Dudova Department of Child Psychiatry, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic Abstract: Atypical antipsychotics (AAPs have been successfully used in early-onset schizophrenia (EOS. This review summarizes the randomized, double-blind, controlled studies of AAPs in EOS, including clozapine, risperidone, olanzapine, aripiprazole, paliperidone, quetiapine, and ziprasidone. No significant differences in efficacy between AAPs were found, with the exception of clozapine and ziprasidone. Clozapine demonstrated superior efficacy in treatment-resistant patients with EOS, whereas ziprasidone failed to demonstrate efficacy in the treatment of EOS. Our review also focuses on the onset of action and weight gain associated with AAPs. The data on onset of action of AAPs in pediatric psychiatry are scanty and inconsistent. Olanzapine appears to cause the most significant weight gain in patients with EOS, while ziprasidone and aripiprazole seem to cause the least. Keywords: early-onset schizophrenia, atypical antipsychotics, efficacy, onset of action, weight gain

  7. Functional brain imaging in the dementias: role in early detection, differential diagnosis, and longitudinal studies

    Energy Technology Data Exchange (ETDEWEB)

    Devous, M.D. Sr. [Nuclear Medicine Center and Department of Radiology, The University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX (United States)

    2002-12-01

    This review considers the role of functional brain imaging techniques in the dementias. The substantial assistance that especially single-photon emission tomography and positron emission tomography can play in the initial diagnosis of dementia and in the differential diagnosis of the specific dementing disorder is discussed. These techniques alone essentially match the sensitivity and specificity of clinical diagnoses in distinguishing Alzheimer's dementia (AD) from age-matched controls, from frontal lobe dementia and vascular dementia, and even from Lewy body dementia. Newer analytic techniques such as voxel-based correlational analyses and discriminant function analyses enhance the power of such differential diagnoses. Functional brain imaging techniques can also significantly assist in patient screening for clinical trials. The correlation of the observed deficits with specific patterns of cognitive abnormalities permits enhanced patient management and treatment planning and improved longitudinal assessment of outcome. It is also noteworthy that the classic abnormalities of temporoparietal and posterior cingulate hypoperfusion or hypometabolism appear to be present prior to symptom onset. These abnormalities predict progression to AD in the presence of the earliest of symptoms, and are present even in cognitively normal but at-risk subjects, with a severity proportional to the risk status. Even greater predictive ability for progression to AD is obtained by combining measures of perfusion or metabolism with risk factors, tau protein levels, hippocampal N-Acetyl aspartate concentrations, or hippocampal volume measures. (orig.)

  8. Functional brain imaging in the dementias: role in early detection, differential diagnosis, and longitudinal studies

    International Nuclear Information System (INIS)

    Devous, M.D. Sr.

    2002-01-01

    This review considers the role of functional brain imaging techniques in the dementias. The substantial assistance that especially single-photon emission tomography and positron emission tomography can play in the initial diagnosis of dementia and in the differential diagnosis of the specific dementing disorder is discussed. These techniques alone essentially match the sensitivity and specificity of clinical diagnoses in distinguishing Alzheimer's dementia (AD) from age-matched controls, from frontal lobe dementia and vascular dementia, and even from Lewy body dementia. Newer analytic techniques such as voxel-based correlational analyses and discriminant function analyses enhance the power of such differential diagnoses. Functional brain imaging techniques can also significantly assist in patient screening for clinical trials. The correlation of the observed deficits with specific patterns of cognitive abnormalities permits enhanced patient management and treatment planning and improved longitudinal assessment of outcome. It is also noteworthy that the classic abnormalities of temporoparietal and posterior cingulate hypoperfusion or hypometabolism appear to be present prior to symptom onset. These abnormalities predict progression to AD in the presence of the earliest of symptoms, and are present even in cognitively normal but at-risk subjects, with a severity proportional to the risk status. Even greater predictive ability for progression to AD is obtained by combining measures of perfusion or metabolism with risk factors, tau protein levels, hippocampal N-Acetyl aspartate concentrations, or hippocampal volume measures. (orig.)

  9. Effects of bilingualism on vocabulary, executive functions, age of dementia onset, and regional brain structure.

    Science.gov (United States)

    Gasquoine, Philip Gerard

    2016-11-01

    To review the current literature on the effects of bilingualism on vocabulary, executive functions, age of dementia onset, and regional brain structure. PubMed and PsycINFO databases were searched (from January 1999 to present) for relevant original research and review articles on bilingualism (but not multilingualism) paired with each target neuropsychological variable published in English. A qualitative review of these articles was conducted. It has long been known that mean scores of bilinguals fall below those of monolinguals on vocabulary and other language, but not visual-perceptual, format cognitive tests. Contemporary studies that have reported higher mean scores for bilinguals than monolinguals on executive function task-switching or inhibition tasks have not always been replicated, leading to concerns of publication bias, statistical flaws, and failures to match groups on potentially confounding variables. Studies suggesting the onset of Alzheimer's disease occurred about 4 years later for bilinguals versus monolinguals have not been confirmed in longitudinal, cohort, community-based, incidence studies that have used neuropsychological testing and diagnostic criteria to establish an age of dementia diagnosis. Neuroimaging studies of regional gray and white matter volume in bilinguals versus monolinguals show inconsistencies in terms of both the regions of difference and the nature of the difference. Resolving inconsistencies in the behavioral data is necessary before searching in the brain for neuroanatomical correlation. Comparisons of balanced versus language-dominant groups within the same ethnoculture combined with objective measurement of bilingualism could better match groups on potentially confounding variables. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

  10. Early-stage differentiation between presenile Alzheimer’s disease and frontotemporal dementia using arterial spin labeling MRI

    NARCIS (Netherlands)

    R.M.E. Steketee (Rebecca); E.E. Bron (Esther); R. Meijboom (Rozanna); G.C. Houston (Gavin); S. Klein (Stefan); H.J.M.M. Mutsaerts (Henri J. M.); C. Méndez Orellana (Carolina); F.J. De Jong (Frank J.); J.C. van Swieten (John); A. van der Lugt (Aad); M. Smits (Marion)

    2016-01-01

    textabstractObjective: To investigate arterial spin labeling (ASL)-MRI for the early diagnosis of and differentiation between the two most common types of presenile dementia: Alzheimer’s disease (AD) and frontotemporal dementia (FTD), and for distinguishing age-related from pathological perfusion

  11. Early-stage differentiation between presenile Alzheimer’s disease and frontotemporal dementia using arterial spin labeling MRI

    NARCIS (Netherlands)

    R.M.E. Steketee (Rebecca); E.E. Bron (Esther); Meijboom, R. (Rozanna); Houston, G.C. (Gavin C.); Klein, S. (Stefan); H.J.M.M. Mutsaerts (Henri J. M.); Orellana, C.P.M. (Carolina P. Mendez); F.J. de Jong (Fransina); J.C. van Swieten (John); A. van der Lugt (Aad); M. Smits (Marion)

    2015-01-01

    textabstractObjective: To investigate arterial spin labeling (ASL)-MRI for the early diagnosis of and differentiation between the two most common types of presenile dementia: Alzheimer’s disease (AD) and frontotemporal dementia (FTD), and for distinguishing age-related from pathological perfusion

  12. Manual-based cognitive behavioral and cognitive rehabilitation therapy for young-onset dementia: a case report.

    Science.gov (United States)

    Tonga, Johanne Bjoernstad; Arnevik, Espen Ajo; Werheid, Katja; Ulstein, Ingun Dina

    2016-03-01

    There is a growing attention worldwide to young-onset dementia (YOD) and this group's special challenges and needs. The literature on psychosocial interventions for this population is scarce, and little is known about the specific challenges and benefits of working therapeutically with this group of patients. The aim of this study was to explore if a manual-based structured cognitive behavioral/cognitive rehabilitation program would be beneficial for these patients. One case, a 63-year-old woman with YOD, is presented to illustrate how this intervention can be applied to individual patients to manage depressive symptoms in YOD.

  13. Suicide in later life : A comparison between cases with early-onset and late-onset depression

    NARCIS (Netherlands)

    Voshaar, Richard C. Oude; Kapur, Nay; Bickley, Harriet; Williams, Alyson; Purandare, Nitin

    Background: Suicide rates are high in elderly people with depressive disorder. We compared behavioural, clinical and care characteristics of depressed elderly patients, aged 60 years and over at the time of death by suicide, with an early-onset depression (EOD, onset before 60 years) with those

  14. Clinical and neuroimage findings of dementia with lewy bodies

    International Nuclear Information System (INIS)

    Kang, Do Young; Park, Kyung Won; Kim, Jae Woo

    2002-01-01

    Dementia with lewy bodies (DLB) is the second common degenerative dementia and has several characteristics including fluctuating cognition, visual hallucination and Parkinsonism. We investigated clinical manifestations and neuroimaging findings in DLB patients. Ten probable DLB patients were included in this study. Brain MRI, Tc-99m HMPAO brain perfusion SPECT and I-123 IPT SPECT were performed. All patients were men and mean age of onset was 64.2 years (range from 54 to 80). All had fluctuating cognition and Parkinsonism, and 8 had visual hallucination. Dementia preceded Parkinsonism in 3 patients. Fluctuation of K-MMSE ranges from 3 to 8 points. Rest tremor was seen in 5 patients. Brain MRI showed cortical atrophy in all patients. Tc-99m brain perfusion SPECT showed hypoperfusion in occipital area as well as fronto-temporo-parietal areas. I-123 IPT SPECT revealed reduced uptake comparable to Parkinson's disease in the striatum. DLB should be first considered as one of possible diagnosis in patients showing dementia in the early stage of Parkinsonism. Hypoperfusion in the occipital area was thought to be a characteristic finding in DLB and to be helpful in differentiating DLB from other degenerative dementias

  15. Genetic Determinism of Primary Early-Onset Osteoarthritis.

    Science.gov (United States)

    Aury-Landas, Juliette; Marcelli, Christian; Leclercq, Sylvain; Boumédiene, Karim; Baugé, Catherine

    2016-01-01

    Osteoarthritis (OA) is the most common joint disease worldwide. A minority of cases correspond to familial presentation characterized by early-onset forms which are genetically heterogeneous. This review brings a new point of view on the molecular basis of OA by focusing on gene mutations causing early-onset OA (EO-OA). Recently, thanks to whole-exome sequencing, a gain-of-function mutation in the TNFRSF11B gene was identified in two distant family members with EO-OA, opening new therapeutic perspectives for OA. Indeed, unraveling the molecular basis of rare Mendelian OA forms will improve our understanding of molecular processes involved in OA pathogenesis and will contribute to better patient diagnosis, management, and therapy. Copyright © 2015 Elsevier Ltd. All rights reserved.

  16. Effectiveness of a community-based program for suicide prevention among elders with early-stage dementia: A controlled observational study.

    Science.gov (United States)

    Kim, Jong-Pill; Yang, Jinhyang

    The purpose of this study was to develop a small-group-focused suicide prevention program for elders with early-stage dementia and to assess its effects. This was a quasi-experimental study with a control group pretest-posttest design. A total of 62 elders diagnosed with early-stage dementia who were receiving care services at nine daycare centers in J City Korea participated in this study. The experimental group participated in the suicide prevention program twice a week for 5 weeks with a pretest and two posttests The developed suicide prevention program had a significant effect on the perceived health status, social support, depression, and suicidal ideation of elders with early-stage dementia. Nurses should integrate risk factors such as depression and protective factors such as health status and social support into a suicide prevention program. This community-based program in geriatric nursing practice can be effective in preventing suicide among elders with early-stage dementia. Copyright © 2016 Elsevier Inc. All rights reserved.

  17. Decision making and executive function in male adolescents with early-onset or adolescence-onset conduct disorder and control subjects.

    Science.gov (United States)

    Fairchild, Graeme; van Goozen, Stephanie H M; Stollery, Sarah J; Aitken, Michael R F; Savage, Justin; Moore, Simon C; Goodyer, Ian M

    2009-07-15

    Although conduct disorder (CD) is associated with an increased susceptibility to substance use disorders, little is known about decision-making processes or reward mechanisms in CD. This study investigated decision making under varying motivational conditions in CD. Performances on the Risky Choice Task (RCT) and the Wisconsin Card Sorting Test (WCST) were assessed in 156 adolescents (84 control subjects, 34 with adolescence-onset CD, and 38 with early-onset CD). The RCT was performed twice, once under normal motivational conditions and once under conditions of increased motivation and psychosocial stress. Increased motivation and stress led to more cautious decision making and changes in framing effects on the RCT in all groups, although such effects were least pronounced in the early-onset CD group. Participants from both CD subgroups selected the risky choice more frequently than control subjects. Under normal motivational conditions, early-onset CD participants chose the risky choice more frequently in trials occurring after small gains, relative to control subjects and adolescence-onset CD participants. Following adjustment for IQ differences, the groups did not differ significantly in terms of WCST performance. Differences in decision making between control subjects and individuals with CD suggest that the balance between sensitivity to reward and punishment is shifted in this disorder, particularly the early-onset form. Our data on modulation of decision making according to previous outcomes suggest altered reward mechanisms in early-onset CD. The WCST data suggest that impairments in global executive function do not underlie altered decision making in CD.

  18. PSEN1 L226F mutation in a patient with early-onset Alzheimer’s disease in Korea

    Directory of Open Access Journals (Sweden)

    Bagyinszky E

    2016-10-01

    Full Text Available Eva Bagyinszky,1,* Sun Ah Park,2,* Hyung Jun Kim,2 Seong Hye Choi,3 Seong Soo A An,1 SangYun Kim4 1Department of BioNano Technology, Gachon University, Seongnam-si, 2Department of Neurology, Soonchunhyang University Bucheon Hospital, Bucheon, 3Department of Neurology, Inha University School of Medicine, Incheon, 4Department of Neurology, Seoul National University College of Medicine & Neurocognitive Behavior Center, Seoul National University Bundang Hospital, Seongnam-si, Republic of Korea *These authors contributed equally to this work Abstract: In this study, we report a first 226leucine (Leu mutation to phenylalanine (Phe in (PSEN1, CTC>TTC, L226F in Asia from a Korean early-onset Alzheimer’s disease (EOAD patient. Polymerase chain reaction (PCR–single strand conformation polymorphism, sequencing, and in silico predictions were performed. Previously, L226F was reported in EOAD patients by Zekanowski et al and Gómez-Tortosa et al. Disease phenotypes appeared in their thirties, and family history was positive in both cases. In our patient, age of onset was similar (37 years of age, but the mutation seemed to be de novo, since no affected family member was found. This leucine to phenylalanine substitution may cause additional stresses inside the transmembrane region due to large aromatic side chain and increased hydrophobic interactions with hydrocarbon chains in the membrane and its binding partners. Clinical phenotype of the mutation was aggressive progression into neurodegeneration, resulting in rapid cognitive decline. One of the patients was initially diagnosed with frontotemporal dementia, but the diagnosis was revised to AD upon postmortem studies in which Aβ plaques were seen. A second mutation, L226R, was found for the L226 residue. Similar to L226F, the patient with L226R also developed the first symptoms in his 30s, but EOAD was diagnosed in his 40s. These findings suggested that L226 might be an important residue in PSEN1

  19. International Summit Consensus Statement: Intellectual Disability Inclusion in National Dementia Plans.

    Science.gov (United States)

    Watchman, Karen; Janicki, Matthew P; Splaine, Michael; Larsen, Frode K; Gomiero, Tiziano; Lucchino, Ronald

    2017-06-01

    The World Health Organization (WHO) has called for the development and adoption of national plans or strategies to guide public policy and set goals for services, supports, and research related to dementia. It called for distinct populations to be included within national plans, including adults with intellectual disability (ID). Inclusion of this group is important as having Down's syndrome is a significant risk factor for early-onset dementia. Adults with other ID may have specific needs for dementia-related care that, if unmet, can lead to diminished quality of old age. An International Summit on Intellectual Disability and Dementia, held in Scotland, reviewed the inclusion of ID in national plans and recommended that inclusion goes beyond just description and relevance of ID. Reviews of national plans and reports on dementia show minimal consideration of ID and the challenges that carers face. The Summit recommended that persons with ID, as well as family carers, should be included in consultation processes, and greater advocacy is required from national organizations on behalf of families, with need for an infrastructure in health and social care that supports quality care for dementia.

  20. Adipocyte-derived factors in age-related dementia and their contribution to vascular and Alzheimer pathology.

    Science.gov (United States)

    Ishii, Makoto; Iadecola, Costantino

    2016-05-01

    Age-related dementia is increasingly recognized as having a mixed pathology, with contributions from both cerebrovascular factors and pathogenic factors associated with Alzheimer's disease (AD). Furthermore, there is accumulating evidence that vascular risk factors in midlife, e.g., obesity, diabetes, and hypertension, increase the risk of developing late-life dementia. Since obesity and changes in body weight/adiposity often drive diabetes and hypertension, understanding the relationship between adiposity and age-related dementia may reveal common underlying mechanisms. Here we offer a brief appraisal of how changes in body weight and adiposity are related to both AD and dementia on vascular basis, and examine the involvement of two key adipocyte-derived hormones: leptin and adiponectin. The evidence suggests that in midlife increased body weight/adiposity and subsequent changes in adipocyte-derived hormones may increase the long-term susceptibility to dementia. On the other hand, later in life, decreases in body weight/adiposity and related hormonal changes are early manifestations of disease that precede the onset of dementia and may promote AD and vascular pathology. Understanding the contribution of adiposity to age-related dementia may help identify the underlying pathological mechanisms common to both vascular dementia and AD, and provide new putative targets for early diagnosis and therapy. This article is part of a Special Issue entitled: Vascular Contributions to Cognitive Impairment and Dementia, edited by M. Paul Murphy, Roderick A. Corriveau and Donna M. Wilcock. Copyright © 2015 Elsevier B.V. All rights reserved.

  1. Risk Factors for Early-Onset Peritonitis in Southern Chinese Peritoneal Dialysis Patients.

    Science.gov (United States)

    Wu, Haishan; Huang, Rong; Yi, Chunyan; Wu, Juan; Guo, Qunying; Zhou, Qian; Yu, Xueqing; Yang, Xiao

    ♦ BACKGROUND: Early peritonitis was confirmed to be associated with a higher risk of early technique failure. However, literature concerning peritonitis within the first 3 months of peritoneal dialysis (PD) initiation is scarce. The present study was to investigate risk factors associated with early-onset peritonitis in PD patients. ♦ METHODS: In this retrospective observational cohort study, all incident PD patients from January 1, 2006, to December 31, 2013, were recruited and followed up until December 31, 2014. According to time-to-first episode of peritonitis, patients were divided into early-onset (≤ 3 months) peritonitis and late-onset (> 3 months) peritonitis. Baseline demographic, clinical, and laboratory data, as well as episodes of peritonitis, were collected. Risk factors associated with early-onset peritonitis were evaluated using logistic regression model. ♦ RESULTS: Of 1,690 patients on PD, 503 (29.8%) developed at least 1 episode of peritonitis and 118 (7.0%) patients presented the first episodes of peritonitis within the first 3 months. A multivariate logistic analysis showed that higher body mass index (BMI) (odds ratio [OR] 1.08, 95% confidence interval [CI] 1.01 - 1.15, p = 0.034), hypoalbuminemia (OR 1.75, 95% CI 1.11 - 2.78, p = 0.017), and catheter exit-site infection (OR 4.14, 95% CI 2.45 - 7.00, p peritonitis. Compared to those with late-onset, patients with early-onset peritonitis had a higher overall peritonitis rate (0.76 vs 0.38 per patient-year, p 0.05). ♦ CONCLUSIONS: Higher BMI, hypoalbuminemia, and catheter exit-site infection were the risk factors associated with early-onset peritonitis in PD patients. Copyright © 2016 International Society for Peritoneal Dialysis.

  2. Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.

    Science.gov (United States)

    Le Guennec, Kilan; Tubeuf, Hélène; Hannequin, Didier; Wallon, David; Quenez, Olivier; Rousseau, Stéphane; Richard, Anne-Claire; Deleuze, Jean-François; Boland, Anne; Frebourg, Thierry; Gaildrat, Pascaline; Campion, Dominique; Martins, Alexandra; Nicolas, Gaël

    2018-01-01

    Heterozygous SORL1 protein truncating variants (PTV) are a strong risk factor for early-onset Alzheimer's disease (EOAD). In case control studies performed at the genome-wide level, PTV definition is usually straightforward. Regarding splice site variants, only those affecting canonical sites are typically included. Some other variants, not annotated as PTV, could, however, affect splicing and hence result in a loss of SORL1 function. We took advantage of the whole exome sequencing data from the 9/484 patients with a previously reported SORL1 PTV in the French EOAD series and searched for a second variant which may affect splicing and eventually result in more than 50% loss of function overall. We found that one patient, known to carry a variant predicted to disrupt the canonical 5' splice site of exon 8, also carried a second novel intronic variant predicted to affect SORL1 splicing of exon 29. Segregation analysis showed that the second variant was located in trans from the known PTV. We performed ex vivo minigene splicing assays and showed that both variants led to the generation of transcripts containing a premature stop codon. This is therefore the first evidence of a human carrying biallelic SORL1 PTV. This patient had a family history of dementia in both maternal and paternal lineages with later ages of onset than the proband himself. However, his 55 years age at onset was in the same ranges as previously published SORL1 heterozygous PTV carriers. This suggests that biallelic loss of SORL1 function is an extremely rare event that was not associated with a dramatically earlier age at onset than heterozygous SORL1 loss-of-function variant carriers, in this single patient.

  3. Different Profile of Serum Leptin between Early Onset and Late Onset Preeclampsia

    Directory of Open Access Journals (Sweden)

    Saeedeh Salimi

    2014-01-01

    Full Text Available Aim. This study was designed to clarify the role of leptin and adiponectin in preeclampsia (PE pathogenesis and different subtypes of preeclampsia. Method. This case control study was performed in 45 PE patients and 45 healthy controls matched for age, BMI, and ethnicity. Serum leptin and adiponectin levels were determined by enzyme linked immunosorbent assay (ELISA. Results. Maternal serum leptin and adiponectin were significantly higher in PE women than controls. Serum leptin was elevated in early onset preeclampsia (EOPE and late onset preeclampsia (LOPE compared to controls. Among PE patients, serum leptin was higher in EOPE than LOPE women. However, serum adiponectin was not different between EOPE and LOPE women. The serum leptin was significantly higher in severe PE than mild PE. The serum adiponectin was significantly elevated in severe PE compared to controls. Significant positive correlation was observed between leptin and adiponectin and also between leptin and BMI in controls. Moreover significant positive correlation was observed between adiponectin and BMI in PE patients and controls. Conclusion. The present study showed that serum leptin level may play a significant role as a biomarker to differentiate early and late onset PE and also its relation to BMI and severity of disease.

  4. Early-onset Coronary Artery Disease: Clinical and Hereditary Aspects

    DEFF Research Database (Denmark)

    Christiansen, Morten Krogh

    2017-01-01

    ), and to characterize and quantify subclinical atherosclerosis in their relatives. Furthermore, the aim was to explore the impact of common genetic risk variants on the age of onset, familial clustering and disease severity. In study I, 143 patients with early-onset CAD were recruited from the Western Denmark Heart...

  5. Language and Dementia: Neuropsychological Aspects.

    Science.gov (United States)

    Kempler, Daniel; Goral, Mira

    2008-01-01

    This article reviews recent evidence for the relationship between extralinguistic cognitive and language abilities in dementia. A survey of data from investigations of three dementia syndromes (Alzheimer's disease, semantic dementia and progressive nonfluent aphasia) reveals that, more often than not, deterioration of conceptual organization appears associated with lexical impairments, whereas impairments in executive function are associated with sentence- and discourse-level deficits. These connections between extralinguistic functions and language ability also emerge from the literature on cognitive reserve and bilingualism that investigates factors that delay the onset and possibly the progression of neuropsychological manifestation of dementia.

  6. Genome-wide association scan for variants associated with early-onset prostate cancer.

    Directory of Open Access Journals (Sweden)

    Ethan M Lange

    Full Text Available Prostate cancer is the most common non-skin cancer and the second leading cause of cancer related mortality for men in the United States. There is strong empirical and epidemiological evidence supporting a stronger role of genetics in early-onset prostate cancer. We performed a genome-wide association scan for early-onset prostate cancer. Novel aspects of this study include the focus on early-onset disease (defined as men with prostate cancer diagnosed before age 56 years and use of publically available control genotype data from previous genome-wide association studies. We found genome-wide significant (p<5×10(-8 evidence for variants at 8q24 and 11p15 and strong supportive evidence for a number of previously reported loci. We found little evidence for individual or systematic inflated association findings resulting from using public controls, demonstrating the utility of using public control data in large-scale genetic association studies of common variants. Taken together, these results demonstrate the importance of established common genetic variants for early-onset prostate cancer and the power of including early-onset prostate cancer cases in genetic association studies.

  7. Key goals and indicators for successful aging of adults with early-onset disability.

    Science.gov (United States)

    LaPlante, Mitchell P

    2014-01-01

    Substantial improvements have occurred in the longevity of several groups of individuals with early-onset disabilities, with many now surviving to advanced ages. This paper estimates the population of adults aging with early-onset disabilities at 12-15 million persons. Key goals for the successful aging of adults with early-onset disabilities are discussed, emphasizing reduction in risks for aging-related chronic disease and secondary conditions, while promoting social participation and independence. However, indicators suggest that elevated risk factors for aging-related chronic diseases, including smoking, obesity, and inactivity, as well as barriers to prevention and the diminished social and economic situation of adults with disabilities are continuing impediments to successful aging that must be addressed. Increased provider awareness that people with early-onset disabilities are aging and can age successfully and the integration of disability and aging services systems are transformative steps that will help adults with early-onset disability to age more successfully. Copyright © 2014 Elsevier Inc. All rights reserved.

  8. Mutations of maturity-onset diabetes of the young (MODY) genes in Thais with early-onset type 2 diabetes mellitus.

    Science.gov (United States)

    Plengvidhya, Nattachet; Boonyasrisawat, Watip; Chongjaroen, Nalinee; Jungtrakoon, Prapaporn; Sriussadaporn, Sutin; Vannaseang, Sathit; Banchuin, Napatawn; Yenchitsomanus, Pa-thai

    2009-06-01

    Six known genes responsible for maturity-onset diabetes of the young (MODY) were analysed to evaluate the prevalence of their mutations in Thai patients with MODY and early-onset type 2 diabetes. Fifty-one unrelated probands with early-onset type 2 diabetes, 21 of them fitted into classic MODY criteria, were analysed for nucleotide variations in promoters, exons, and exon-intron boundaries of six known MODY genes, including HNF-4alpha, GCK, HNF-1alpha, IPF-1, HNF-1beta, and NeuroD1/beta2, by the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method followed by direct DNA sequencing. Missense mutations or mutations located in regulatory region, which were absent in 130 chromosomes of non-diabetic controls, were classified as potentially pathogenic mutations. We found that mutations of the six known MODY genes account for a small proportion of classic MODY (19%) and early-onset type 2 diabetes (10%) in Thais. Five of these mutations are novel including GCK R327H, HNF-1alpha P475L, HNF-1alphaG554fsX556, NeuroD1-1972 G > A and NeuroD1 A322N. Mutations of IPF-1 and HNF-1beta were not identified in the studied probands. Mutations of the six known MODY genes may not be a major cause of MODY and early-onset type 2 diabetes in Thais. Therefore, unidentified genes await discovery in a majority of Thai patients with MODY and early-onset type 2 diabetes.

  9. Genomes of early onset prostate cancer

    DEFF Research Database (Denmark)

    Weischenfeldt, Joachim; Korbel, Jan O.

    2017-01-01

    Purpose of review Prostate cancer is a disease of the elderly but a clinically relevant subset occurs early in life. In the current review, we discuss recent findings and the current understanding of the molecular underpinnings associated with early-onset prostate cancer (PCa) and the evidence...... supporting age-specific differences in the cancer genomes. Recent findings Recent surveys of PCa patient cohorts have provided novel age-dependent links between germline and somatic aberrations which points to differences in the molecular cause and treatment options. Summary Identifying the earliest...... receptor pathway....

  10. Correlates and prevalence of hypogonadism in patients with early- and late-onset type 2 diabetes.

    Science.gov (United States)

    Li, Y; Zhang, M; Liu, X; Cui, W; Rampersad, S; Li, F; Lin, Z; Yang, P; Li, H; Sheng, C; Cheng, X; Qu, S

    2017-07-01

    This study aims to compare the prevalence of hypogonadism between male patients with early-onset type 2 diabetes mellitus (T2DM) and late-onset type 2 diabetes. A total of 122 male patients with early-onset T2DM (diagnosis age ≤40 years) and 100 male patients with late-onset T2DM (diagnosis age >40 years) were recruited from our in-patient department between 1 January 2013 and 28 December 2015. Serum FSH, LH, testosterone, lipid profile, uric acid, HbA1c, and beta-cell function were determined in blood samples. The diagnosis of hypogonadism was based on the levels of LH, FSH, and total testosterone. The mean onset age was 29.86 ± 6.31 and 54.47 ± 9.97 years old in the early-onset group and late-onset group, respectively. Compared with late-onset T2DM, those with early-onset T2DM had a higher proportion of new-onset diabetes, were more likely to be obese, and had worse glycemic control, lipid control, and lower sex hormone-binding globulin (SHBG). The prevalence of hypogonadism was much higher in the early-onset group than in the late-onset group (48.0% vs. 26.7%, p hypogonadism in the early-onset group and late-onset group were 44.3% and 25.0%, respectively (p hypogonadism was higher in the patients with early-onset T2DM than that of late-onset T2DM. This prevalence might be attributable to greater obesity, worse lipid control, and lower SHBG levels in those patients. © 2017 American Society of Andrology and European Academy of Andrology.

  11. CDKL5 and ARX mutations in males with early-onset epilepsy.

    Science.gov (United States)

    Mirzaa, Ghayda M; Paciorkowski, Alex R; Marsh, Eric D; Berry-Kravis, Elizabeth M; Medne, Livija; Alkhateeb, Asem; Grix, Art; Wirrell, Elaine C; Powell, Berkley R; Nickels, Katherine C; Burton, Barbara; Paras, Andrea; Kim, Katherine; Chung, Wendy; Dobyns, William B; Das, Soma

    2013-05-01

    Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. Although numerous males with ARX mutations associated with various phenotypes have been reported in the literature, the majority of CDKL5 mutations have been identified in females with a phenotype characterized by early-onset epilepsy, severe global developmental delay, absent speech, and stereotypic hand movements. To date, only 10 males with CDKL5 mutations have been reported. Our retrospective study reports on the clinical, neuroimaging, and molecular findings of 18 males with early-onset epilepsy caused by either CDKL5 or ARX mutations. These 18 patients include eight new males with CDKL5 mutations and 10 with ARX mutations identified through sequence analysis of 266 and 346 males, respectively, at our molecular diagnostic laboratory. Our large dataset therefore expands on the number of reported males with CDKL5 mutations and highlights that aberrations of CDKL5 and ARX combined are an important consideration in the genetic forms of early-onset epilepsy in boys. Copyright © 2013 Elsevier Inc. All rights reserved.

  12. Differences between early and late onset adult depression

    DEFF Research Database (Denmark)

    Drachmann Bukh, Jens; Bock, Camilla; Vinberg, Maj

    2011-01-01

    episode depression were systematically recruited. Characteristics including psychiatric co-morbidity, personality disorders and traits, stressful life events prior to onset, family history, and treatment outcome were assessed by structured interviews and compared by chi-square tests for categorical data...... prevalence of co-morbid personality disorders, higher levels of neuroticism, and a lower prevalence of stressful life events preceding onset compared to patients with later age-of-onset. There were no differences in severity of the depressive episode, treatment outcome or family loading of psychiatric......, t-tests for continuous parametric data and Mann-Whitney U-test for continuous nonparametric data. Logistic and multiple regression analyses were used to adjust the analyses for potentially confounding variables. Results: Patients with early onset of depression were characterised by a higher...

  13. Posterior cortical atrophy - a prototypical case of dementia beginning with visual symptoms: case report

    Directory of Open Access Journals (Sweden)

    Leonardo Ferreira Caixeta

    2013-10-01

    Full Text Available Dementia presenting with prominent higher order visual symptoms may be observed in a range of neurodegenerative conditions and is often challenging to diagnose. We describe a case of progressive dementia presenting with prominent visual cortical symptoms. A 55-year-old, right-handed, woman with early onset of visual impairment not associated with anterior visual pathology, presenting with dyslexia, visual agnosia, Balint's syndrome, and spatial disorientation. Ophthalmologists should consider this condition especially in presenile patients with slowly progressive higher-order visual symptoms. Although described in association with different conditions, it may also occur in Alzheimer disease.

  14. Dissociation between implicit and explicit manifestations of awareness in early stage dementia: evidence from the emotional Stroop effect for dementia-related words.

    Science.gov (United States)

    Martyr, Anthony; Clare, Linda; Nelis, Sharon M; Roberts, Judith L; Robinson, Julia U; Roth, Ilona; Markova, Ivana S; Woods, Robert T; Whitaker, Christopher J; Morris, Robin G

    2011-01-01

    To determine whether people with dementia (PwD), and carers of PwD, show a processing bias to dementia-related words in an emotional Stroop task, and if so, whether the presence of such a bias is related to level of explicit awareness of the condition. Seventy-nine people with early stage Alzheimer's disease (AD), vascular or mixed dementia, and their carers, completed an emotional Stroop task. Time taken to colour-name dementia-related and neutral words was compared within and between groups. Additionally, as a comparison, ratings of the awareness of the condition shown by PwD were made on the basis of a detailed interview with each PwD and his/her carer. PwD and carers showed the same level of increase in response times to salient compared to neutral words. In the PwD this effect was unrelated to the degree of awareness that they demonstrated regarding the condition. The emotional Stroop effect in response to dementia-related words in PwD indicates that preserved implicit awareness of the condition can be elicited even where there is reduced explicit awareness. Copyright © 2010 John Wiley & Sons, Ltd.

  15. Association of brain-derived neurotrophic factor (BDNF) Val66Met polymorphism with early-onset bipolar disorder.

    Science.gov (United States)

    Nassan, Malik; Croarkin, Paul E; Luby, Joan L; Veldic, Marin; Joshi, Paramjit T; McElroy, Susan L; Post, Robert M; Walkup, John T; Cercy, Kelly; Geske, Jennifer R; Wagner, Karen D; Cuellar-Barboza, Alfredo B; Casuto, Leah; Lavebratt, Catharina; Schalling, Martin; Jensen, Peter S; Biernacka, Joanna M; Frye, Mark A

    2015-09-01

    Brain-derived neurotrophic factor (BDNF) Val66Met (rs6265) functional polymorphism has been implicated in early-onset bipolar disorder. However, results of studies are inconsistent. We aimed to further explore this association. DNA samples from the Treatment of Early Age Mania (TEAM) and Mayo Clinic Bipolar Disorder Biobank were investigated for association of rs6265 with early-onset bipolar disorder. Bipolar cases were classified as early onset if the first manic or depressive episode occurred at age ≤19 years (versus adult-onset cases at age >19 years). After quality control, 69 TEAM early-onset bipolar disorder cases, 725 Mayo Clinic bipolar disorder cases (including 189 early-onset cases), and 764 controls were included in the analysis of association, assessed with logistic regression assuming log-additive allele effects. Comparison of TEAM cases with controls suggested association of early-onset bipolar disorder with the rs6265 minor allele [odds ratio (OR) = 1.55, p = 0.04]. Although comparison of early-onset adult bipolar disorder cases from the Mayo Clinic versus controls was not statistically significant, the OR estimate indicated the same direction of effect (OR = 1.21, p = 0.19). When the early-onset TEAM and Mayo Clinic early-onset adult groups were combined and compared with the control group, the association of the minor allele rs6265 was statistically significant (OR = 1.30, p = 0.04). These preliminary analyses of a relatively small sample with early-onset bipolar disorder are suggestive that functional variation in BDNF is implicated in bipolar disorder risk and may have a more significant role in early-onset expression of the disorder. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  16. Appetite and Weight Loss Symptoms in Late-Life Depression Predict Dementia Outcomes.

    Science.gov (United States)

    Saha, Sayoni; Hatch, Daniel J; Hayden, Kathleen M; Steffens, David C; Potter, Guy G

    2016-10-01

    Identify depression symptoms during active late-life depression (LLD) that predict conversion to dementia. The authors followed a cohort of 290 participants from the Neurocognitive Outcomes of Depression in the Elderly study. All participants were actively depressed and cognitively normal at enrollment. Depression symptom factors were derived from prior factor analysis: anhedonia and sadness, suicidality and guilt, appetite and weight loss, sleep disturbance, and anxiety and tension. Cox regression analysis modeled time to Alzheimer disease (AD) and non-AD dementia onset on depression symptom factors, along with age, education, sex, and race. Significant dementia predictors were tested for interaction with age at depression onset. Higher scores on the appetite and weight loss symptom factor were associated with an increased hazard of both AD and non-AD dementia. This factor was moderated by age at first depression onset, such that higher scores were associated with higher risk of non-AD dementia when depression first occurred earlier in life. Other depression symptom factors and overall depression severity were not related to risk of AD or non-AD dementia. Results suggest greater appetite/weight loss symptoms in active episodes of LLD are associated with increased likelihood of AD and non-AD dementia, but possibly via different pathways moderated by age at first depression onset. Results may help clinicians identify individuals with LLD at higher risk of developing AD and non-AD dementia and design interventions that reduce this risk. Copyright © 2016. Published by Elsevier Inc.

  17. Dementia service centres in Austria: A comprehensive support and early detection model for persons with dementia and their caregivers - theoretical foundations and model description.

    Science.gov (United States)

    Auer, Stefanie R; Span, Edith; Reisberg, Barry

    2015-07-01

    Despite the highly developed social services in Austria, the County of Upper Austria, one of the nine counties of Austria had only very limited specialized services for persons with dementia and their caregivers in 2001. Support groups existed in which the desire for more specialized services was voiced. In response to this situation, funding was received to develop a new structure for early disease detection and long term support for both the person with dementia and their caregivers. This article describes the development of the model of the Dementia Service Centres (DSCs) and the successes and difficulties encountered in the process of implementing the model in six different rural regions of Upper Austria. The DSC was described in the First Austrian Dementia Report as one of the potential service models for the future. © The Author(s) 2013.

  18. Early-onset preeclampsia is associated with perinatal mortality and severe neonatal morbidity

    NARCIS (Netherlands)

    Esch, J.J.A. van; Heijst, A.F. van; Haan, A.F.J. de; Heijden, O.W.H. van der

    2017-01-01

    OBJECTIVE: To evaluate neonatal outcomes of pregnancies complicated by early-onset preeclampsia (PE) and compare these outcomes to those of gestational age matched neonates born to mothers whose pregnancy was not complicated by early-onset PE. METHODS: We analyzed the outcome in 97 neonates born to

  19. Early Onset Malignancies - Genomic Study of Cancer Disparities

    Science.gov (United States)

    The Early Onset Malignancies Initiative studies the genomic basis of six cancers that develop at an earlier age, occur in higher rates, and are typically more aggressive in certain minority populations.

  20. Cerebellar ataxia of early onset

    International Nuclear Information System (INIS)

    Yamashita, Sumimasa; Miyake, Shota; Yamada, Michiko; Iwamoto, Hiroko; Yamada, Kazuhiko.

    1989-01-01

    Eight cases of childhood cerebellar ataxia were reported. All these cases showed chronic cerebellar ataxia with early onset, and the other diseases of cerebellum such as infections, neoplasms and storage diseases were excluded by clinical symptoms and laboratory findings including blood counts, blood chemistry, lactate, pyruvate, ceruloplasmine, urinalysis, serum immunoglobulins, amino acid analysis in blood and urine, CSF analysis, leukocyte lysosomal enzymes, MCV, EMG, EEG and brain X-CT. Two pairs of siblings were included in this study. The clinical diagnosis were cerebellar type (5), spinocerebellar type (1), one Marinesco-Sjoegren syndrome and undetermined type (1). The age of onset was 1 to 5 years. The chief complaint was motor developmental delay in 6 cases; among them 5 patients could walk alone at the ages of 2 to 3 years'. Mental retardation was observed in 7 cases and epilepsy in 2. TRH was effective in 5 cases. The MRI study revealed that the area of medial sagittal slice of the cerebellum was reduced significantly in all cases and also that of pons was reduced in 5 cases. Different from typical adult onset spinocerebellar degenerations, most of the present cases have achieved slow developmental milestones and the clinical course was not progressive. Genetic factors are suspected in the pathogenesis of this disease in some cases. (author)

  1. Living better with dementia: strengths-based social work practice and dementia care.

    Science.gov (United States)

    McGovern, Justine

    2015-01-01

    This article first argues that quality of life is possible despite the onset of dementia in late life. It also demonstrates how core concepts of social work practice, such as family systems theory, the strengths perspective, and use of self, can be applied to practice with dementia-affected persons. In addition, it provides practical suggestions for supporting care partners in nurturing "we-ness", focusing on what remains rather than was is lost, and remaining authentic. When strengths-based social work practice is integrated into dementia care protocols, wellbeing can increase. As a result, the more than 40 million persons worldwide who are affected by dementia do not have to resign themselves to the despair, devastation and inevitable demise of quality of life that dominate perception of the illness.

  2. Neurodegenerative Dementia

    International Nuclear Information System (INIS)

    Allard, Michelle

    2006-01-01

    Full text: With increasing life expectancy across the world, the number of elderly people at risk of developing dementia is growing rapidly. Thus, progressive neurodegenerative disorders such as dementia represent a growing public health concern. These diseases are characterized by a progressive loss in most of the cognitive functions. The promise, possibly in a near future, of disease-modifying therapies has made the characterization of the early stages of dementia a topic of major interest. The assessment of these early stages is a challenge for neuroimaging studies. In order to conceive prevention trials; it is of major outcome to fully understand the mechanisms of the cognitive system impairment and its evolution, with a particular reference to the symptomatic pre-dementia stage, when subjects just begin to depart from normality. In this article we review recent progress in neuroimaging, and their potentiality for increasing a diagnostic accuracy. (author)

  3. MR spectroscopy in dementia

    International Nuclear Information System (INIS)

    Hauser, T.; Gerigk, L.; Giesel, F.; Schuster, L.; Essig, M.

    2010-01-01

    With an increasingly aging population we are faced with the problem of an increasing number of dementia patients. In addition to clinical, neuropsychological and laboratory procedures, MRI plays an important role in the early diagnosis of dementia. In addition to various morphological changes functional changes can also help in the diagnosis and differential diagnosis of dementia. Overall the diagnosis of dementia can be improved by using parameters from MR spectroscopy. This article focuses on MR spectroscopic changes in the physiological aging process as well as on changes in mild cognitive impairment a precursor of Alzheimer's dementia, in Alzheimer's dementia, frontotemporal dementia, vascular dementia and Lewy body dementia. (orig.) [de

  4. Common variants at five new loci associated with early-onset inflammatory bowel disease.

    Science.gov (United States)

    Imielinski, Marcin; Baldassano, Robert N; Griffiths, Anne; Russell, Richard K; Annese, Vito; Dubinsky, Marla; Kugathasan, Subra; Bradfield, Jonathan P; Walters, Thomas D; Sleiman, Patrick; Kim, Cecilia E; Muise, Aleixo; Wang, Kai; Glessner, Joseph T; Saeed, Shehzad; Zhang, Haitao; Frackelton, Edward C; Hou, Cuiping; Flory, James H; Otieno, George; Chiavacci, Rosetta M; Grundmeier, Robert; Castro, Massimo; Latiano, Anna; Dallapiccola, Bruno; Stempak, Joanne; Abrams, Debra J; Taylor, Kent; McGovern, Dermot; Silber, Gary; Wrobel, Iwona; Quiros, Antonio; Barrett, Jeffrey C; Hansoul, Sarah; Nicolae, Dan L; Cho, Judy H; Duerr, Richard H; Rioux, John D; Brant, Steven R; Silverberg, Mark S; Taylor, Kent D; Barmuda, M Michael; Bitton, Alain; Dassopoulos, Themistocles; Datta, Lisa Wu; Green, Todd; Griffiths, Anne M; Kistner, Emily O; Murtha, Michael T; Regueiro, Miguel D; Rotter, Jerome I; Schumm, L Philip; Steinhart, A Hillary; Targan, Stephen R; Xavier, Ramnik J; Libioulle, Cécile; Sandor, Cynthia; Lathrop, Mark; Belaiche, Jacques; Dewit, Olivier; Gut, Ivo; Heath, Simon; Laukens, Debby; Mni, Myriam; Rutgeerts, Paul; Van Gossum, André; Zelenika, Diana; Franchimont, Denis; Hugot, J P; de Vos, Martine; Vermeire, Severine; Louis, Edouard; Cardon, Lon R; Anderson, Carl A; Drummond, Hazel; Nimmo, Elaine; Ahmad, Tariq; Prescott, Natalie J; Onnie, Clive M; Fisher, Sheila A; Marchini, Jonathan; Ghori, Jilur; Bumpstead, Suzannah; Gwillam, Rhian; Tremelling, Mark; Delukas, Panos; Mansfield, John; Jewell, Derek; Satsangi, Jack; Mathew, Christopher G; Parkes, Miles; Georges, Michel; Daly, Mark J; Heyman, Melvin B; Ferry, George D; Kirschner, Barbara; Lee, Jessica; Essers, Jonah; Grand, Richard; Stephens, Michael; Levine, Arie; Piccoli, David; Van Limbergen, John; Cucchiara, Salvatore; Monos, Dimitri S; Guthery, Stephen L; Denson, Lee; Wilson, David C; Grant, Straun F A; Daly, Mark; Silverberg, Mark S; Satsangi, Jack; Hakonarson, Hakon

    2009-12-01

    The inflammatory bowel diseases (IBD) Crohn's disease and ulcerative colitis are common causes of morbidity in children and young adults in the western world. Here we report the results of a genome-wide association study in early-onset IBD involving 3,426 affected individuals and 11,963 genetically matched controls recruited through international collaborations in Europe and North America, thereby extending the results from a previous study of 1,011 individuals with early-onset IBD. We have identified five new regions associated with early-onset IBD susceptibility, including 16p11 near the cytokine gene IL27 (rs8049439, P = 2.41 x 10(-9)), 22q12 (rs2412973, P = 1.55 x 10(-9)), 10q22 (rs1250550, P = 5.63 x 10(-9)), 2q37 (rs4676410, P = 3.64 x 10(-8)) and 19q13.11 (rs10500264, P = 4.26 x 10(-10)). Our scan also detected associations at 23 of 32 loci previously implicated in adult-onset Crohn's disease and at 8 of 17 loci implicated in adult-onset ulcerative colitis, highlighting the close pathogenetic relationship between early- and adult-onset IBD.

  5. Dementia in developing countries: Does education play the same role in India as in the West?

    Science.gov (United States)

    Iyer, Gowri K; Alladi, Suvarna; Bak, Thomas H; Shailaja, Mekala; Mamidipudi, Annapurna; Rajan, Amulya; Gollahalli, Divyaraj; Chaudhuri, Jaydip Ray; Kaul, Subhash

    2014-01-01

    Evidence suggests that education protects from dementia by enhancing cognitive reserve. However, this may be influenced by several socio-demographic factors. Rising numbers of dementia in India, high levels of illiteracy and heterogeneity in socio-demographic factors provide an opportunity to explore this relationship. To study the association between education and age at dementia onset, in relation to socio-demographic factors. Association between age at dementia onset and literacy was studied in relationship to potential confounding factors such as gender, bilingualism, place of dwelling, occupation, vascular risk factors, stroke, family history of dementia and dementia subtypes. Case records of 648 dementia patients diagnosed in a specialist clinic in a University hospital in Hyderabad, India were examined. All patients were prospectively enrolled as part of an ongoing longitudinal project that aims to evaluate dementia subjects with detailed clinical, etiological, imaging, and follow-up studies. Of the 648 patients, 98 (15.1%) were illiterate. More than half of illiterate skilled workers were engaged in crafts and skilled agriculture unlike literates who were in trade or clerical jobs. Mean age at onset in illiterates was 60.1 years and in literates 64.5 years (p=0.0002). Factors independently associated with age at dementia onset were bilingualism, rural dwelling and stroke, but not education. Our study demonstrates that in India, rural dwelling, bilingualism, stroke and occupation modify the relationship between education and dementia.

  6. Do spouse caregivers of young and older persons with dementia have different needs? A comparative study.

    Science.gov (United States)

    Wawrziczny, Emilie; Pasquier, Florence; Ducharme, Francine; Kergoat, Marie-Jeanne; Antoine, Pascal

    2017-09-01

    The aim of this study was to explore the needs of spouse caregivers of persons with dementia (PWD) and then to compare them based on the PWD's age at disease onset. This data could be used to adapt support programmes to address differences between the two groups. Thirty-eight spouse caregivers of persons with late-onset dementia and 40 spouse caregivers of persons with early-onset dementia (PEOD) agreed to participate in the study. The mean ± SD age of the PEOD was 57.6 ± 4.0 years, whereas it was 80.9 ± 5.3 years for the persons with late-onset dementia. Interviews were conducted in the spouse caregivers' homes with only the spouse caregiver. The semi-structured interviews were based on the French version of the Carers Outcome Agreement Tool. The interviews were analyzed in two steps. The first step was qualitative to identify needs. The data were thematically analyzed using QSR NVivo 10. The second step was quantitative to compare the needs depending on the PWD's age at onset. The comparison between the two groups was performed using the χ 2 test. The results demonstrated that the majority of needs are the same for the two groups of spouse caregivers. All caregivers need to unwind, to stimulate and pay attention to the PWD, to break the isolation, and to be more prepared and confident. However, some differences emerge, with the spouse caregivers of PEOD expressing a greater number of needs. The caregivers of PEOD seem to have a greater need to interact and maintain contacts with other people (P = 0.001), have more general care-related needs (P = 0.005), require more appropriate care structures (P = 0.037), and need greater assistance with administrative procedures (P = 0.004). To improve spouse caregivers' well-being and sense of efficiency, it would be interesting to develop a support programme with a common framework and specific modules depending on the PWD's age at disease onset. © 2017 Japanese Psychogeriatric Society.

  7. Verbal and Academic Skills in Children with Early-Onset Type 1 Diabetes

    Science.gov (United States)

    Hannonen, Riitta; Komulainen, Jorma; Eklund, Kenneth; Tolvanen, Asko; Riikonen, Raili; Ahonen, Timo

    2010-01-01

    Aim: Basic verbal and academic skills can be adversely affected by early-onset diabetes, although these skills have been studied less than other cognitive functions. This study aimed to explore the mechanism of learning deficits in children with diabetes by assessing basic verbal and academic skills in children with early-onset diabetes and in…

  8. Public awareness of dementia: A study in Botucatu, a medium-sized city in the State of São Paulo, Brazil

    Directory of Open Access Journals (Sweden)

    Arthur Oscar Schelp

    Full Text Available Abstract Dementia is a progressive and debilitating disease affecting an increasing number of people worldwide. Despite its importance, only a few studies have examined public awareness of dementia. We present a study of the public awareness of dementia in Botucatu, São Paulo, Brazil. Methods: A sample of 73 individuals answered a questionnaire approved by the Medical Ethics Research Committee inquiring about the characteristics of healthy old-aged and demented individuals. Results: Those interviewed believed that dementia is characterized by prevalent memory impairment (41% and behavioral changes (32.9% with onset in the 60's or older (42.5% and upon suspecting dementia, only a few would seek specialized medical help. Discussion: Better understanding of public awareness of dementia provides the clue to more effective health and social policies in order to achieve a higher rate of early diagnosis and thereby possibly decreasing patient, family and caregiver distress.

  9. Advanced MR Neuroimaging in Early Stage Presenile Dementia

    NARCIS (Netherlands)

    R.M.E. Steketee (Rebecca)

    2016-01-01

    markdownabstractDementia is a syndrome affecting cognitive functions and behavior, with an overwhelming impact on both patients and caregivers. An estimated number of 35.6 million patients suffers from dementia, with a subset affected before the age of 65 years, i.e. presenile dementia. Establishing

  10. Neuropsychological dysfunction in adults with early-onset obsessive-compulsive disorder: the search for a cognitive endophenotype

    Directory of Open Access Journals (Sweden)

    Jie Zhang

    2015-06-01

    Full Text Available Objective:Evidence suggests that early-onset obsessive-compulsive disorder (OCD is an etiologically distinct subtype of OCD. The objective of the present work was to search for neurocognitive endophenotypes of early-onset OCD based on assessments of attention, memory, and executive function in patients with the disorder and their unaffected siblings.Methods:We compared the performance of 40 adult patients with early-onset OCD, 40 of their unaffected siblings, and 40 unrelated healthy controls on a neuropsychological battery designed for this study. We searched for associations among test performance, demographic variables (age, sex and years of education and clinical symptoms of early-onset OCD.Results:Patients performed significantly worse than healthy controls on the Tower of Hanoi, and the Stroop and Wisconsin tests, indicating impairments in planning, mental flexibility and inhibitory control. The performance of the unaffected first-degree siblings of patients with early-onset OCD on the Stroop and Wisconsin tests also differed from that of healthy controls. Symptom severity in early-onset OCD was strongly correlated with performance on the Tower of Hanoi.Conclusions:Our findings support the existence of specific executive function deficits in patients with early-onset OCD. Relatives presented an intermediate phenotype between patients and controls, suggesting that executive functions such as mental flexibility and response inhibition may be considered candidate endophenotypes of early-onset OCD.

  11. Early AIDS dementia complex

    International Nuclear Information System (INIS)

    Mountz, J.M.; Speed, N.M.; Adams, K.; Schwartz, J.A.; Gross, M.D.; Ostrow, D.G.

    1988-01-01

    A frequent complication of the acquired immunodeficiency syndrome (AIDS) is AIDS dementia complex (ADC). The authors evaluated seven patients with AIDS (aged 28-55 years, all male) for ADC by psychiatric evaluation, neuropsychological testing, CT scanning, and IMP-SPECT. Six of seven patients exhibited cognitive or behavioral abnormalities. Neuropsychological testing showed general deficits but no cases of explicit dementia. SPECT showed marked abnormalities in two cases: posterior temporal-parietal diminution of tracer uptake in one case (posterior/anterior=0.81) and marked right/left subcortical asymmetry (1.17) in the other. In three additional cases there was asymmetric tracer uptake in the subcortical and parietal regions. CT findings were normal in all seven cases. The authors conclude that functional imaging with the use of IMP-SPECT may be a useful method to follow ADC progression and response to therapy

  12. Dementia in developing countries: Does education play the same role in India as in the West?

    Science.gov (United States)

    Iyer, Gowri K.; Alladi, Suvarna; Bak, Thomas H.; Shailaja, Mekala; Mamidipudi, Annapurna; Rajan, Amulya; Gollahalli, Divyaraj; Chaudhuri, Jaydip Ray; Kaul, Subhash

    2014-01-01

    Evidence suggests that education protects from dementia by enhancing cognitive reserve. However, this may be influenced by several socio-demographic factors. Rising numbers of dementia in India, high levels of illiteracy and heterogeneity in socio-demographic factors provide an opportunity to explore this relationship. Objective To study the association between education and age at dementia onset, in relation to socio-demographic factors. Methods Association between age at dementia onset and literacy was studied in relationship to potential confounding factors such as gender, bilingualism, place of dwelling, occupation, vascular risk factors, stroke, family history of dementia and dementia subtypes. Results Case records of 648 dementia patients diagnosed in a specialist clinic in a University hospital in Hyderabad, India were examined. All patients were prospectively enrolled as part of an ongoing longitudinal project that aims to evaluate dementia subjects with detailed clinical, etiological, imaging, and follow-up studies. Of the 648 patients, 98 (15.1%) were illiterate. More than half of illiterate skilled workers were engaged in crafts and skilled agriculture unlike literates who were in trade or clerical jobs. Mean age at onset in illiterates was 60.1 years and in literates 64.5 years (p=0.0002). Factors independently associated with age at dementia onset were bilingualism, rural dwelling and stroke, but not education. Conclusion Our study demonstrates that in India, rural dwelling, bilingualism, stroke and occupation modify the relationship between education and dementia. PMID:29213894

  13. Dementia in developing countries: Does education play the same role in India as in the West?

    Directory of Open Access Journals (Sweden)

    Gowri K. Iyer

    Full Text Available ABSTRACT Evidence suggests that education protects from dementia by enhancing cognitive reserve. However, this may be influenced by several socio-demographic factors. Rising numbers of dementia in India, high levels of illiteracy and heterogeneity in socio-demographic factors provide an opportunity to explore this relationship. Objective: To study the association between education and age at dementia onset, in relation to socio-demographic factors. Methods: Association between age at dementia onset and literacy was studied in relationship to potential confounding factors such as gender, bilingualism, place of dwelling, occupation, vascular risk factors, stroke, family history of dementia and dementia subtypes. Results: Case records of 648 dementia patients diagnosed in a specialist clinic in a University hospital in Hyderabad, India were examined. All patients were prospectively enrolled as part of an ongoing longitudinal project that aims to evaluate dementia subjects with detailed clinical, etiological, imaging, and follow-up studies. Of the 648 patients, 98 (15.1% were illiterate. More than half of illiterate skilled workers were engaged in crafts and skilled agriculture unlike literates who were in trade or clerical jobs. Mean age at onset in illiterates was 60.1 years and in literates 64.5 years (p=0.0002. Factors independently associated with age at dementia onset were bilingualism, rural dwelling and stroke, but not education. Conclusion: Our study demonstrates that in India, rural dwelling, bilingualism, stroke and occupation modify the relationship between education and dementia.

  14. Early-Onset Physical Frailty in Adults with Diabesity and Peripheral Neuropathy.

    Science.gov (United States)

    Tuttle, Lori J; Bittel, Daniel C; Bittel, Adam J; Sinacore, David R

    2017-12-07

    Diabesity (obesity and diabetes mellitus) has been identified as a potential contributor to early-onset frailty. Impairments contributing to early onset of physical frailty in this population are not well understood, and there is little evidence of the impact of peripheral neuropathy on frailty. The purpose of this study was to determine impairments that contribute to early-onset physical frailty in individuals with diabesity and peripheral neuropathy. We studied 105 participants, 82 with diabesity and peripheral neuropathy (57 years of age, body mass index [BMI] 31 kg/m 2 ); 13 with diabesity only (53 years of age, BMI 34 kg/m 2 ) and 10 obese controls (67 years of age, BMI 32 kg/m 2 ). Peripheral neuropathy was determined using Semmes Weinstein monofilaments; physical frailty was classified using the 9-item, modified Physical Performance Test; and knee extension and ankle plantarflexion peak torques were measured using isokinetic dynamometry. Participants with diabesity and peripheral neuropathy were 7.4 times more likely to be classified as physically frail. Impairments in lower-extremity function were associated with classification of frailty. Individuals with diabesity and peripheral neuropathy are particularly likely to be classified as frail. Earlier identification and interventions aimed at improving lower-extremity function may be important to mitigate the early-onset functional decline. Copyright © 2017 Diabetes Canada. Published by Elsevier Inc. All rights reserved.

  15. Are we comparing frontotemporal dementia and Alzheimer disease patients with the right measures?

    Science.gov (United States)

    Deutsch, Mariel B; Liang, Li-Jung; Jimenez, Elvira E; Mather, Michelle J; Mendez, Mario F

    2016-09-01

    Clinical research studies of behavioral variant frontotemporal dementia (bvFTD) often use Alzheimer disease (AD) as a comparison group for control of dementia variables, using tests of cognitive function to match the groups. These two dementia syndromes, however, are very different in clinical manifestations, and the comparable severity of these dementias may not be reflected by commonly used cognitive scales such as the Mini-Mental State Examination (MMSE). We evaluated different measures of dementia severity and symptoms among 20 people with bvFTD compared to 24 with early-onset AD. Despite similar ages, disease-duration, education, and cognitive performance on two tests of cognitive function, the MMSE and the Montreal Cognitive Assessment (MoCA), the bvFTD participants, compared to the AD participants, were significantly more impaired on other measures of disease severity, including function (Functional Assessment Questionnaire (FAQ)), neuropsychiatric symptoms (Neuropsychiatric Inventory (NPI)), and global dementia stage (Clinical Dementia Rating Scales (CDRs)). However, when we adjusted for the frontotemporal lobar degeneration-CDR (FTLD-CDR) in the analyses, the two dementia groups were comparable across all measures despite significant differences on the cognitive scales. We found tests of cognitive functions (MMSE and MoCA) to be insufficient measures for ensuring comparability between bvFTD and AD groups. In clinical studies, the FTLD-CDR, which includes additional language and behavior items, may be a better overall way to match bvFTD and AD groups on dementia severity.

  16. Early-onset Hirayama disease in a female

    Directory of Open Access Journals (Sweden)

    Matthias Baumann

    2017-01-01

    Full Text Available Objectives: Hirayama disease is a rare myelopathy, occurring predominantly in males with onset in the teens. Methods and results: Here, we report a young female patient who developed the first signs of Hirayama disease at 10.5 years of age. Prior to onset, she had experienced a growth spurt and grew about 8 cm. The disease progressed over 3 years and the typical clinical, electrophysiological, and neuroimaging signs of Hirayama disease were found. After this period and achievement of her final height, no further progression was noticed. Conclusions: This case highlights that pediatric neurologists should be aware of Hirayama disease, which can also occur in girls in early adolescence.

  17. GRIN1 Mutations in Early-Onset Epileptic Encephalopathy

    Directory of Open Access Journals (Sweden)

    Wenjuan Chen

    2015-06-01

    Full Text Available Investigators from Yokohama City University and other medical centers in Israel and Japan reported mutations on N-methyl-D-aspartate (NMDA receptors subunit GRIN1 (GluN1 identified in patients with nonsyndromic intellectual disability and early-onset epileptic encephalopathy.

  18. Early- versus Late-Onset Alzheimer’s Disease—Differences in Functional Impairment.

    OpenAIRE

    Wattmo, Carina; Wallin, Åsa

    2016-01-01

    Background: Persons with clinical onset of Alzheimer’s disease (AD) before 65 years of age are diagnosed with early-onset AD (EOAD). The prevalence of EOAD is low, but varies among studies from 6% to 16%. Most individuals with EOAD are still working, have an active social life, and might have children living at home. Therefore, the consequences of being diagnosed early with a disease that implies progressive deterioration of cognitive performance and activities of daily living (ADL), and pers...

  19. Dementia: role of MRI

    International Nuclear Information System (INIS)

    Georgieva-Kozarova, G.

    2012-01-01

    Full text: This presentation will focus on the role of MRI in the diagnosis of dementia and related diseases. We will discuss the following subjects: 1. Systematic assessment of MR in dementia 2. MR protocol for dementia 3. Typical findings in the most common dementia syndrome Alzheimer's disease (AD), Vascular Dementia (VaD), Frontotemporal lobe dementia (FTLD) 4. Short overview of neurodegenerative disorders which may be associated with dementia. The role of neuroimaging in dementia nowadays extends to support the diagnosis of specific neurodegenerative disorders. It is a challenge to the early diagnosis of neurodegenerative diseases such as Alzheimer's disease. Early diagnosis includes recognition of predementia conditions, such as mild cognitive impairment (MCI). Neuroimaging may also be used to assess disease progression and is adopted in current trials investigating MCI and AD. An MR-study of a patient suspected of having dementia must be assessed in a standardized way. First of all, treatable diseases like subdural hematomas, tumors and hydrocephalus need to be excluded. Next we should look for signs of specific dementias such as: Alzheimer's disease (AD): medial temporal lobe atrophy (MTA) and parietal atrophy. Frontotemporal Lobar Degeneration (FTLD): (asymmetric) frontal lobe atrophy and atrophy of the temporal pole. Vascular Dementia (VaD): global atrophy, diffuse white matter lesions, lacunas and 'strategic infarcts' (infarcts in regions that are involved in cognitive function). Dementia with Lewy bodies (DLB): in contrast to other forms of dementia usually no specific abnormalities. So when we study the MR images we should score in a systematic way for global atrophy, focal atrophy and for vascular disease (i.e. infarcts, white matter lesions, lacunas)

  20. Screening and Treatment for Early-Onset Gestational Diabetes Mellitus: a Systematic Review and Meta-analysis.

    Science.gov (United States)

    Immanuel, Jincy; Simmons, David

    2017-10-02

    We conducted a systematic review to evaluate the current evidence for screening and treatment for early-onset gestational diabetes mellitus (GDM) RECENT FINDINGS: Many of the women with early GDM in the first trimester do not have evidence of hyperglycemia at 24-28 weeks' gestation. A high proportion (15-70%) of women with GDM can be detected early in pregnancy depending on the setting, criteria used and screening strategy. However, there remains no good evidence for any of the diagnostic criteria for early-onset GDM. In a meta-analysis of 13 cohort studies, perinatal mortality (relative risk (RR) 3.58 [1.91, 6.71]), neonatal hypoglycemia (RR 1.61 [1.02, 2.55]), and insulin use (RR 1.71 [1.45, 2.03]) were greater among early-onset GDM women compared to late-onset GDM women, despite treatment. Considering the high likelihood of benefit from treatment, there is an urgent need for randomized controlled trials that investigate any benefits and possible harms of treatment of early-onset GDM.

  1. Mothers' experience of caring for a child with early onset scoliosis: A qualitative descriptive study.

    Science.gov (United States)

    Lauder, Bonnie; Sinclair, Peter M; Maguire, Jane

    2018-04-01

    This study aimed to identify and describe the experience of parents of children diagnosed with early onset scoliosis living in Australia. Chronic childhood disease has a major impact on health-related quality of life. Caring for a child with a chronic illness is well documented but the specific experiences of parents who care for children with early onset scoliosis, a rare but devastating illness, has not been explored. Numerous studies have described the interrelated psychological, financial, social, physical and logistical factors that impact the experience of the caregiver role with various diseases, but in the case of early onset scoliosis, limited studies have been conducted about the parental experience. A qualitative descriptive design was used. A snowball sampling technique assisted in the recruitment. Parents invited to the study included mothers, fathers and guardians. Data were collected through semistructured interviews and transcribed verbatim. Transcripts were analysed thematically. Data collection complied with the Consolidated criteria for reporting qualitative research guidelines. Twelve mothers of children with early onset scoliosis were interviewed, as only mothers consented to participate. Four major themes emerged: emotional rollercoaster ride, a lack of resources, money talks and pervasive burden. Factors that impacted on the participants' ability to confront, manage and endure caring for a child with early onset scoliosis emerged from the data. The findings suggest there are multiple factors that influence the experience of mothers' caring for a child with early onset scoliosis. The recognition and appropriate management of these factors by healthcare professionals have the potential to improve the quality of life of parents who care for a child with early onset scoliosis. Healthcare professionals have first-line contact with parents of children with early onset scoliosis and are well placed to provide parents with evidence-based education

  2. Magnetoencephalography of frontotemporal dementia: spatiotemporally localized changes during semantic decisions

    Science.gov (United States)

    Nestor, Peter J.; Hodges, John R.; Rowe, James B.

    2011-01-01

    Behavioural variant frontotemporal dementia is a neurodegenerative disorder with dysfunction and atrophy of the frontal lobes leading to changes in personality, behaviour, empathy, social conduct and insight, with relative preservation of language and memory. As novel treatments begin to emerge, biomarkers of frontotemporal dementia will become increasingly important, including functionally relevant neuroimaging indices of the neurophysiological basis of cognition. We used magnetoencephalography to examine behavioural variant frontotemporal dementia using a semantic decision task that elicits both frontal and temporal activity in healthy people. Twelve patients with behavioural variant frontotemporal dementia (age 50–75) and 16 matched controls made categorical semantic judgements about 400 pictures during continuous magnetoencephalography. Distributed source analysis was used to compare patients and controls. The patients had normal early responses to picture confrontation, indicating intact visual processing. However, a predominantly posterior set of regions including temporoparietal cortex showed reduced source activity 250–310 ms after stimulus onset, in proportion to behavioural measures of semantic association. In contrast, a left frontoparietal network showed reduced source activity at 550–650 ms, proportional to patients’ deficits in attention and orientation. This late deficit probably reflects impairment in the neural substrate of goal-oriented decision making. The results demonstrate behaviourally relevant neural correlates of semantic processing and decision making in behavioural variant frontotemporal dementia, and show for the first time that magnetoencephalography can be used to study cognitive systems in the context of frontotemporal dementia. PMID:21840892

  3. Person-Based Versus Generalized Impulsivity Disinhibition in Frontotemporal Dementia and Alzheimer Disease.

    Science.gov (United States)

    Paholpak, Pongsatorn; Carr, Andrew R; Barsuglia, Joseph P; Barrows, Robin J; Jimenez, Elvira; Lee, Grace J; Mendez, Mario F

    2016-09-19

    While much disinhibition in dementia results from generalized impulsivity, in behavioral variant frontotemporal dementia (bvFTD) disinhibition may also result from impaired social cognition. To deconstruct disinhibition and its neural correlates in bvFTD vs. early-onset Alzheimer's disease (eAD). Caregivers of 16 bvFTD and 21 matched-eAD patients completed the Frontal Systems Behavior Scale disinhibition items. The disinhibition items were further categorized into (1) "person-based" subscale which predominantly associated with violating social propriety and personal boundary and (2) "generalized-impulsivity" subscale which included nonspecific impulsive acts. Subscale scores were correlated with grey matter volumes from tensor-based morphometry on magnetic resonance images. In comparison to the eAD patients, the bvFTD patients developed greater person-based disinhibition (P dementia, violations of social propriety and personal boundaries involved fronto-parieto-temporal network of Theory of Mind, whereas nonspecific disinhibition involved the OFC and aTL. © The Author(s) 2016.

  4. Cross-validation of biomarkers for the early differential diagnosis and prognosis of dementia in a clinical setting

    International Nuclear Information System (INIS)

    Perani, Daniela; Cerami, Chiara; Caminiti, Silvia Paola; Santangelo, Roberto; Coppi, Elisabetta; Ferrari, Laura; Magnani, Giuseppe; Pinto, Patrizia; Passerini, Gabriella; Falini, Andrea; Iannaccone, Sandro; Cappa, Stefano Francesco; Comi, Giancarlo; Gianolli, Luigi

    2016-01-01

    The aim of this study was to evaluate the supportive role of molecular and structural biomarkers (CSF protein levels, FDG PET and MRI) in the early differential diagnosis of dementia in a large sample of patients with neurodegenerative dementia, and in determining the risk of disease progression in subjects with mild cognitive impairment (MCI). We evaluated the supportive role of CSF Aβ 42 , t-Tau, p-Tau levels, conventional brain MRI and visual assessment of FDG PET SPM t-maps in the early diagnosis of dementia and the evaluation of MCI progression. Diagnosis based on molecular biomarkers showed the best fit with the final diagnosis at a long follow-up. FDG PET SPM t-maps had the highest diagnostic accuracy in Alzheimer's disease and in the differential diagnosis of non-Alzheimer's disease dementias. The p-tau/Aβ 42 ratio was the only CSF biomarker providing a significant classification rate for Alzheimer's disease. An Alzheimer's disease-positive metabolic pattern as shown by FDG PET SPM in MCI was the best predictor of conversion to Alzheimer's disease. In this clinical setting, FDG PET SPM t-maps and the p-tau/Aβ 42 ratio improved clinical diagnostic accuracy, supporting the importance of these biomarkers in the emerging diagnostic criteria for Alzheimer's disease dementia. FDG PET using SPM t-maps had the highest predictive value by identifying hypometabolic patterns in different neurodegenerative dementias and normal brain metabolism in MCI, confirming its additional crucial exclusionary role. (orig.)

  5. Cross-validation of biomarkers for the early differential diagnosis and prognosis of dementia in a clinical setting

    Energy Technology Data Exchange (ETDEWEB)

    Perani, Daniela [Vita-Salute San Raffaele University, Milan (Italy); San Raffaele Scientific Institute, Division of Neuroscience, Milan (Italy); San Raffaele Hospital, Nuclear Medicine Unit, Milan (Italy); Cerami, Chiara [Vita-Salute San Raffaele University, Milan (Italy); San Raffaele Scientific Institute, Division of Neuroscience, Milan (Italy); San Raffaele Hospital, Clinical Neuroscience Department, Milan (Italy); Caminiti, Silvia Paola [Vita-Salute San Raffaele University, Milan (Italy); San Raffaele Scientific Institute, Division of Neuroscience, Milan (Italy); Santangelo, Roberto; Coppi, Elisabetta; Ferrari, Laura; Magnani, Giuseppe [San Raffaele Hospital, Department of Neurology, Milan (Italy); Pinto, Patrizia [Papa Giovanni XXIII Hospital, Department of Neurology, Bergamo (Italy); Passerini, Gabriella [Servizio di Medicina di Laboratorio OSR, Milan (Italy); Falini, Andrea [Vita-Salute San Raffaele University, Milan (Italy); San Raffaele Scientific Institute, Division of Neuroscience, Milan (Italy); San Raffaele Hospital, CERMAC - Department of Neuroradiology, Milan (Italy); Iannaccone, Sandro [San Raffaele Hospital, Clinical Neuroscience Department, Milan (Italy); Cappa, Stefano Francesco [San Raffaele Scientific Institute, Division of Neuroscience, Milan (Italy); IUSS Pavia, Pavia (Italy); Comi, Giancarlo [Vita-Salute San Raffaele University, Milan (Italy); San Raffaele Hospital, Department of Neurology, Milan (Italy); Gianolli, Luigi [San Raffaele Hospital, Nuclear Medicine Unit, Milan (Italy)

    2016-03-15

    The aim of this study was to evaluate the supportive role of molecular and structural biomarkers (CSF protein levels, FDG PET and MRI) in the early differential diagnosis of dementia in a large sample of patients with neurodegenerative dementia, and in determining the risk of disease progression in subjects with mild cognitive impairment (MCI). We evaluated the supportive role of CSF Aβ{sub 42}, t-Tau, p-Tau levels, conventional brain MRI and visual assessment of FDG PET SPM t-maps in the early diagnosis of dementia and the evaluation of MCI progression. Diagnosis based on molecular biomarkers showed the best fit with the final diagnosis at a long follow-up. FDG PET SPM t-maps had the highest diagnostic accuracy in Alzheimer's disease and in the differential diagnosis of non-Alzheimer's disease dementias. The p-tau/Aβ{sub 42} ratio was the only CSF biomarker providing a significant classification rate for Alzheimer's disease. An Alzheimer's disease-positive metabolic pattern as shown by FDG PET SPM in MCI was the best predictor of conversion to Alzheimer's disease. In this clinical setting, FDG PET SPM t-maps and the p-tau/Aβ{sub 42} ratio improved clinical diagnostic accuracy, supporting the importance of these biomarkers in the emerging diagnostic criteria for Alzheimer's disease dementia. FDG PET using SPM t-maps had the highest predictive value by identifying hypometabolic patterns in different neurodegenerative dementias and normal brain metabolism in MCI, confirming its additional crucial exclusionary role. (orig.)

  6. Estrogen use and early onset Alzheimer's disease: a population-based study

    NARCIS (Netherlands)

    A.J.C. Slooter (Arjen); J.B. Bronzova (Juliana); J.C.M. Witteman (Jacqueline); C.M. van Duijn (Cornelia); C. van Broeckhoven (Christine); A. Hofman (Albert)

    1999-01-01

    textabstractEstrogen use may be protective for Alzheimer's disease with late onset. However, the effects on early onset Alzheimer's disease are unclear. This issue was studied in a population based setting. For each female patient, a female control was matched on age (within 5

  7. Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation

    DEFF Research Database (Denmark)

    Clayton, Emma L.; Mancuso, Renzo; Nielsen, Troels Tolstrup

    2017-01-01

    Frontotemporal dementia (FTD)-causing mutations in the CHMP2B gene lead to the generation of mutant C-terminally truncated CHMP2B. We report that transgenic mice expressing endogenous levels of mutant CHMP2B developed late-onset brain volume loss associated with frank neuronal loss and FTD-like c...

  8. Risk of early-onset prostate cancer associated with occupation in the Nordic countries

    DEFF Research Database (Denmark)

    Hughes Barry, Kathryn; Martinsen, Jan Ivar; Alavanja, Michael C. R.

    2017-01-01

    -49 and those aged 50 or older. We also conducted separate analyses by period of follow-up, 1961-1985 and 1986-2005, corresponding to pre- and post-prostate-specific antigen (PSA) screening. RESULTS: For early-onset prostate cancer (n = 1521), we observed the highest SIRs for public safety workers (e......BACKGROUND: Early-onset prostate cancer is often more aggressive and may have a different aetiology than later-onset prostate cancer, but has been relatively little studied to date. We evaluated occupation in relation to early- and later-onset prostate cancer in a large pooled study. METHODS: We...... used occupational information from census data in five Nordic countries from 1960 to 1990. We identified prostate cancer cases diagnosed from 1961 to 2005 by linkage of census information to national cancer registries and calculated standardised incidence ratios (SIRs) separately for men aged 30...

  9. Management of Very Early-onset Fetal Growth Restriction: Results from 92 Consecutive Cases.

    Science.gov (United States)

    Hoellen, Friederike; Beckmann, Annika; Banz-Jansen, Constanze; Weichert, Jan; Rody, Achim; Bohlmann, Michael K

    2016-01-01

    To evaluate management of early-onset intrauterine growth restriction (IUGR) and to define outcome according to obstetric setting. During an 11-year period (2000-2011), data of patients presenting with IUGR and preterm delivery of less than 30 weeks of gestation at a tertiary perinatal center were retrospectively reviewed. A total of 92 pregnancies were investigated. Delivery was indicated for fetal reasons in 38 out of 92 patients. Sixteen children of our cohort died within one year post partum, out of which eight had suffered from severe early-onset IUGR causing iatrogenic preterm delivery. Concerning the fetal outcome, gestational age at delivery and antenatal exposure to corticosteroids were found to be crucial. In some cases, respiratory distress syndrome prophylaxis and a "wait and see" approach to management in favor of a prolongation of the pregnancy might be favorable. Randomized prospective trials in early-onset IUGR with threatened preterm deliveries are needed in order to define guidelines for an individually tailored management of early-onset preterm infants. Copyright © 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

  10. Neurocognition in Early-Onset Schizophrenia and Schizoaffective Disorders

    Science.gov (United States)

    Hooper, Stephen R.; Giuliano, Anthony J.; Youngstrom, Eric A.; Breiger, David; Sikich, Linmarie; Frazier, Jean A.; Findling, Robert L.; McClellan, Jon; Hamer, Robert M.; Vitiello, Benedetto; Lieberman, Jeffrey A.

    2010-01-01

    Objective: We examined the neuropsychological functioning of youth enrolled in the NIMH funded trial, Treatment of Early-Onset Schizophrenia Spectrum Disorders (TEOSS). We compared the baseline neuropsychological functioning of youth with schizophrenia (SZ, n = 79) to those with schizoaffective disorder (SA, n = 40), and examined the relationship…

  11. Novel PET molecular probes for early diagnosis of Alzheimer's disease

    International Nuclear Information System (INIS)

    Kong Yanyan; Guan Yihui; Wu Ping

    2012-01-01

    Alzheimer disease (AD) is the most common type of dementia and will become increasingly prevalent with population aging. It is accepted that the pathologic changes underlying AD appear in the brain years to decades before the symptomatic stages. Clinical measures of cognitive impairment, as used for definition of dementia, will not allow early diagnosis of AD-pathology in the mild or asymptomatic stages. There has been growing interest in early diagnosis of this disease, particularly regarding the initiation of new treatment strategies ahead of the onset of irreversible neuronal damage. Brain imaging markers are among the most promising candidates for this diagnostic challenge. PET has been demonstrated to be a most sensitive, specific, noninvasive, objective and quantitative method for early identification of AD-pathology and molecular biology, thus for prediction of dementia of the Alzheimer type, even in the mild and asymptomatic stages. (authors)

  12. Genetics Home Reference: early-onset myopathy with fatal cardiomyopathy

    Science.gov (United States)

    ... in childhood, people with EOMFC may also develop joint deformities called contractures that restrict the movement of ... Home Edition for Patients and Caregivers: Dilated Cardiomyopathy Neuromuscular Disease Center, Washington University Orphanet: Early-onset myopathy ...

  13. Neutrophil CD64 in early-onset neonatal sepsis

    African Journals Online (AJOL)

    EL-HAKIM

    of 3.5 to 8 cases per 1,000 live births; and mortality rate 16 to 30%. Cytokines, produced by ... 40 weeks with a picture of early onset neonatal sepsis within 48 hours of life admitted to neonatal ..... Infect Dis J 2000;19 (9):879-87. 5. Gonzalez BE ...

  14. ASSESSMENT OF OXIDATIVE STRESS IN EARLY AND LATE ONSET PRE-ECLAMPSIA AMONG GHANAIAN WOMEN.

    Science.gov (United States)

    Tetteh, P W; Adu-Bonsaffoh, K; Antwi-Boasiako, C; Antwi, D A; Gyan, B; Obed, S A

    2015-01-01

    Pre-eclampsia is a multisystem pregnancy-related disorder with multiple theories regarding its aetiology resulting in lack of reliable screening tests and well-established measures for primary prevention. However, oxidative stress is increasingly being implicated in the pathogenesi of pre-eclampsia although conflicting findings have been reported. To determine and compare the levels of oxidative stress in early and late onset pre-eclampsia by measuring urinary excretion of isoprostane and total antioxidant power (TAP) in a cohort of pre-eclamptic women at Korle Bu Teaching Hospital. This was a cross-sectional study conducted at Korle-Bu Teaching Hospital, Accra, Ghana involving pre-eclamptic women between the ages 18 and 45 years who gave written informed consent. Urinary isoprostane levels were determined using an enzyme-linked immunosorbent assay (ELISA) kit whereas the Total Anti-oxidant Power in urine samples was determined using Total Antioxidant Power Colorimetric Microplate Assay kit. The data obtained were analyzed using MEGASTAT statistical software package. We included 102 pre-eclamptic women comprising 68 (66.7%) and 34 (33.3%) with early-onset and late-onset pre-eclampsia respectively. There were no statistically significant differences between the mean maternal age, haematological indices, serum ALT, AST, ALT, albumin, urea, creatinine uric acid and total protein at the time of diagnosis. The mean gestational age at diagnosis of early and late onset pre-eclampsia were 31.65 ± 0.41 and 38.03 ± 0.21 respectively (p ˂ 0.001). Also, there were statistically significant differences between the diastolic blood pressure (BP), systolic BP and mean arterial pressure (MAP) at diagnosis of pre-eclampsia in the two categories. The mean urinary Isoprostane excretion was significantly higher in the early onset pre-eclamptic group (3.04 ± 0.34 ng/mg Cr) compared to that of the late onset pre-eclamptic group (2.36 ± 0.45 ng/mg Cr), (p=0.019). Urinary total

  15. INFLAMMATORY BOWEL DISEASE WITH A VERY EARLY ONSET

    Directory of Open Access Journals (Sweden)

    E. A. Kornienko

    2016-01-01

    Full Text Available Inflammatory bowel disease (Crohn's disease and ulcerative colitis has a tendency to manifest at earlier age. In childhood (< 6 years of age it has an especially severe course and is characterized by high grade inflammation, predominantly in the colon, by complication and extra-intestinal autoimmune injury. At younger age, Crohn's disease and ulcerative colitis require more aggressive treatment with frequently poor results. From genetic point of view, monogenic mutations controlling the immune response are characteristic for these diseases with an early onset; therefore, they are frequently associated with primary immunodeficiency. This implies various immunologic deficits, such as breakdown of the epithelial barrier, phagocytic dysfunction and dysfunction of Т and В lymphocytes and regulatory Т cells. Depending on this, a number of primary immunodeficiencies are identified associated with monogenic mutations of more than 50 genes. There some age-related specific features at manifestation. Thus, defects in interleukin 10 and FOXP3 manifest in the first months of life, whereas severe combined immunodeficiencies and phagocytosis defects become evident somewhat later. Virtually all 24 children with very early onset of inflammatory bowel disease, whom we examined, had immunologic defects and one child had a XIAP gene mutation. After identification of a specific immunologic defect, one can understand the mechanism of the disease and suspect one or another genetic defect with subsequent reasonable assessment of mutations in candidate genes. Detection of immunologic and genetic defects in children with a very early onset of inflammatory bowel disease allows for choosing an adequate strategy of non-conventional treatment that may differ depending on the mechanism of the disease.

  16. Observing conversational laughter in frontotemporal dementia.

    Science.gov (United States)

    Pressman, Peter S; Simpson, Michaela; Gola, Kelly; Shdo, Suzanne M; Spinelli, Edoardo G; Miller, Bruce L; Gorno-Tempini, Maria Luisa; Rankin, Katherine; Levenson, Robert W

    2017-05-01

    We performed an observational study of laughter during seminaturalistic conversations between patients with dementia and familial caregivers. Patients were diagnosed with (1) behavioural variant frontotemporal dementia (bvFTD), (2) right temporal variant frontotemporal dementia (rtFTD), (3) semantic variant of primary progressive aphasia (svPPA), (4) non-fluent variant primary progressive aphasia (nfvPPA) or (5) early onset Alzheimer's disease (eoAD). We hypothesised that those with bvFTD would laugh less in response to their own speech than other dementia groups or controls, while those with rtFTD would laugh less regardless of who was speaking. Patients with bvFTD (n=39), svPPA (n=19), rtFTD (n=14), nfvPPA (n=16), eoAD (n=17) and healthy controls (n=156) were recorded (video and audio) while discussing a problem in their relationship with a healthy control companion. Using the audio track only, laughs were identified by trained coders and then further classed by an automated algorithm as occurring during or shortly after the participant's own vocalisation ('self' context) or during or shortly after the partner's vocalisation ('partner' context). Individuals with bvFTD, eoAD or rtFTD laughed less across both contexts of self and partner than the other groups. Those with bvFTD laughed less relative to their own speech comparedwith healthy controls. Those with nfvPPA laughed more in the partner context compared with healthy controls. Laughter in response to one's own vocalisations or those of a conversational partner may be a clinically useful measure in dementia diagnosis. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  17. The effect of age of onset of PD on risk of dementia

    DEFF Research Database (Denmark)

    Aarsland, Dag; Kvaløy, J.T.; Andersen, Kjeld

    2007-01-01

    followed prospectively for 3-4 years and assessed for dementia according to DSM-IIIR. All PD and control cases underwent neurological examination and were followed with neurological and neuropsychological assessments. We used Cox proportional hazards regression based on three different time scales...... to explore the effect of AAO of PD on risk of dementia, adjusting for age at baseline and other demographic and clinical variables. FINDINGS: In both PD groups and in the pooled analyses, there was a significant effect of age at baseline assessment on the time to develop dementia, but there was no effect...... AAO of PD symptoms is a risk factor for dementia independent of the general effect of age. METHODS: Two community-based studies of PD in New York (n=281) and Rogaland county, Norway (n=227) and two population-based groups of healthy elderly from New York (n=180) and Odense, Denmark (n=2414) were...

  18. Early and phasic cortical metabolic changes in vestibular neuritis onset.

    Directory of Open Access Journals (Sweden)

    Marco Alessandrini

    Full Text Available Functional brain activation studies described the presence of separate cortical areas responsible for central processing of peripheral vestibular information and reported their activation and interactions with other sensory modalities and the changes of this network associated to strategic peripheral or central vestibular lesions. It is already known that cortical changes induced by acute unilateral vestibular failure (UVF are various and undergo variations over time, revealing different cortical involved areas at the onset and recovery from symptoms. The present study aimed at reporting the earliest change in cortical metabolic activity during a paradigmatic form of UVF such as vestibular neuritis (VN, that is, a purely peripheral lesion of the vestibular system, that offers the opportunity to study the cortical response to altered vestibular processing. This research reports [(18F]fluorodeoxyglucose positron emission tomography brain scan data concerning the early cortical metabolic activity associated to symptoms onset in a group of eight patients suffering from VN. VN patients' cortical metabolic activity during the first two days from symptoms onset was compared to that recorded one month later and to a control healthy group. Beside the known cortical response in the sensorimotor network associated to vestibular deafferentation, we show for the first time the involvement of Entorhinal (BAs 28, 34 and Temporal (BA 38 cortices in early phases of symptomatology onset. We interpret these findings as the cortical counterparts of the attempt to reorient oneself in space counteracting the vertigo symptom (Bas 28, 34 and of the emotional response to the new pathologic condition (BA 38 respectively. These interpretations were further supported by changes in patients' subjective ratings in balance, anxiety, and depersonalization/derealization scores when tested at illness onset and one month later. The present findings contribute in expanding

  19. Early onset diabetes-genetic and hormonal analysis in pakistan population

    International Nuclear Information System (INIS)

    Wahid, M.; Kamran, M.

    2016-01-01

    Background: Mitochondrial DNA mutation and hormonal imbalance is involved in the pathogenesis of early onset diabetes but data is lacking in Pakistani population. The study was planned to delineate the clinical presentation of early onset diabetes with possible hormonal and genetic etiological factors and aascertain the possible etiological role of insulin and glucagon in these patients either on oral hypoglycaemic or subcutaneous insulin therapy. Methods: Retrospective, analytical case control study with conventional sampling technique carried at Centre for Research in Experimental and Applied Medicine (CREAM) affiliated with the department of Biochemistry and Molecular Biology, Army Medical College Rawalpindi from Dec 2006 to July 2011. Study included the patients (20-35 years of age) with early onset diabetes on oral hypoglycemic (n=240), insulin therapy (n=280), and compared with non-diabetic healthy controls (n=150). A fragment surrounding tRNALeu (UUR) gene was amplified by AmpliTaq from mtDNA which was extracted from peripheral blood leucocytes. Then it was subjected to restriction endonucleases, ApaI for A3242G mutation and HaeIII for G3316A mutation detection. Plasma glucose, glycosylated Hb, osmolality, insulin and glucagon levels along with ABGs analysis was also done. Results: Non diabetic controls comprised of 51% males and 49% females, diabetics on oral hypoglycemic 60% males and 40 % females and on insulin therapy 54% males and 46% females. Insulin dependent diabetics had statistically significant hyperglucagonemia, acidemia and bicarbonate deficit. MtDNA A3242G and G3316A mutations were not detected. Conclusion: relative hyperglucagonemia and acidemia in Insulin dependent diabetics was a potent threat leading to DKA. The absence of two mtDNA mutations in ND1 gene rules out the possibility of involvement of these mutations in early onset diabetes in Pakistani population. (author)

  20. Impaired imitation of gestures in mild dementia: comparison of dementia with Lewy bodies, Alzheimer's disease and vascular dementia.

    Science.gov (United States)

    Nagahama, Yasuhiro; Okina, Tomoko; Suzuki, Norio

    2015-11-01

    To examine whether imitation of gestures provided useful information to diagnose early dementia in elderly patients. Imitation of finger and hand gestures was evaluated in patients with mild dementia; 74 patients had dementia with Lewy bodies (DLB), 100 with Alzheimer's disease (AD) and 52 with subcortical vascular dementia (SVaD). Significantly, more patients with DLB (32.4%) compared with patients with AD (5%) or SVaD (11.5%) had an impaired ability to imitate finger gestures bilaterally. Also, significantly, more patients with DLB (36.5%) compared with patients with AD (5%) or SVaD (15.4%) had lower mean scores of both hands. In contrast, impairment of the imitation of bimanual gestures was comparable among the three patient groups (DLB 50%, AD 42%, SVaD 42.3%). Our study revealed that imitation of bimanual gestures was impaired non-specifically in about half of the patients with mild dementia, whereas imitation of finger gestures was significantly more impaired in patients with early DLB than in those with AD or SVaD. Although the sensitivity was not high, the imitation tasks may provide additional information for diagnosis of mild dementia, especially for DLB. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  1. Suicidal behavior and assisted suicide in dementia.

    Science.gov (United States)

    Draper, Brian M

    2015-10-01

    Concerns about suicide risk in people with dementia have been increasing in recent years along with a discourse about rational suicide and assisted suicide. A systematic narrative literature review of suicidal behavior and assisted suicide in persons with dementia. Most studies that have examined the spectrum of suicidal ideation, attempted suicide and suicide in dementia have methodological limitations but the overall suicide risk does not appear to be increased. When suicidal behavior does occur, common themes include the presence of psychiatric comorbidity, mainly depression; occurrence early in the dementia course with preserved insight and capacity; and an increased risk in younger people. The emerging discourse on rational and assisted suicide has been spurred by early and pre-symptomatic diagnosis and poses a number of ethical challenges for clinicians including the role of proxy decision-makers. Although dementia might not confer a significant overall risk for suicidal behavior, clinicians still need to consider the potential for suicide in vulnerable individuals particularly early in the dementia course.

  2. Multiparametric computer-aided differential diagnosis of Alzheimer's disease and frontotemporal dementia using structural and advanced MRI

    International Nuclear Information System (INIS)

    Bron, Esther E.; Klein, Stefan; Smits, Marion; Steketee, Rebecca M.E.; Meijboom, Rozanna; Papma, Janne M.; Swieten, John C. van; Groot, Marius de; Niessen, Wiro J.

    2017-01-01

    To investigate the added diagnostic value of arterial spin labelling (ASL) and diffusion tensor imaging (DTI) to structural MRI for computer-aided classification of Alzheimer's disease (AD), frontotemporal dementia (FTD), and controls. This retrospective study used MRI data from 24 early-onset AD and 33 early-onset FTD patients and 34 controls (CN). Classification was based on voxel-wise feature maps derived from structural MRI, ASL, and DTI. Support vector machines (SVMs) were trained to classify AD versus CN (AD-CN), FTD-CN, AD-FTD, and AD-FTD-CN (multi-class). Classification performance was assessed by the area under the receiver-operating-characteristic curve (AUC) and accuracy. Using SVM significance maps, we analysed contributions of brain regions. Combining ASL and DTI with structural MRI resulted in higher classification performance for differential diagnosis of AD and FTD (AUC = 84%; p = 0.05) than using structural MRI by itself (AUC = 72%). The performance of ASL and DTI themselves did not improve over structural MRI. The classifications were driven by different brain regions for ASL and DTI than for structural MRI, suggesting complementary information. ASL and DTI are promising additions to structural MRI for classification of early-onset AD, early-onset FTD, and controls, and may improve the computer-aided differential diagnosis on a single-subject level. (orig.)

  3. IKs Gain- and Loss-of-Function In Early-Onset Lone Atrial Fibrillation

    DEFF Research Database (Denmark)

    Steffensen, Annette Buur; Refsgaard, Lena; Andersen, Martin Nybo

    2015-01-01

    INTRODUCTION: Atrial fibrillation (AF) is the most frequent cardiac arrhythmia. The potassium current IKs is essential for cardiac repolarization. Gain-of-function mutation in KCNQ1, the gene encoding the pore-forming α-subunit of the IKs channel (KV 7.1), was the first ion channel dysfunction...... to be associated with familial AF. We hypothesized that early-onset lone AF is associated with a high prevalence of mutations in KCNQ1. METHODS AND RESULTS: We bidirectionally sequenced the entire coding sequence of KCNQ1 in 209 unrelated patients with early-onset lone AF (...-of-function phenotype. CONCLUSIONS: Mutations in the IKs channel leading to gain-of-function have previously been described in familial AF, yet this is the first time a loss-of-function mutation in KCNQ1 is associated with early-onset lone AF. These findings suggest that both gain-of function and loss...

  4. Benefits of game-based leisure activities in normal aging and dementia.

    Science.gov (United States)

    Narme, Pauline

    2016-12-01

    Given the increasing prevalence of dementia and the limited efficacy of pharmacological treatments, it is crucial to improve the knowledge of the factors that might delay the onset of dementia for developing non-pharmacological interventions. Recent studies have provided evidence that game-based interventions, especially the practice of video games, could improve the cognitive functioning (e.g. executive functions) in older adults and in demented patients. The positive effects of these games have also been demonstrated on physical health (e.g. improvement of balance and gait). Video gamed-based interventions may also alleviate mood or behavioral disorders, and increase interactions with friends, family, caregivers or other patients. The positive impact of games on these domains (cognitive and physical decline, social isolation) suggests that game-based interventions might contribute to delay the onset of dementia. Thus, playing games might be considered as a protective factor in dementia and even more as a potential non-pharmacological strategy in dementia rather than leisure activity.

  5. Validation of the Addenbrooke's cognitive examination for detecting early Alzheimer's disease and mild vascular dementia in a German population.

    Science.gov (United States)

    Alexopoulos, P; Greim, B; Nadler, K; Martens, U; Krecklow, B; Domes, G; Herpertz, S; Kurz, A

    2006-01-01

    We assessed the diagnostic accuracy of the German version of the Addenbrooke's Cognitive Examination (ACE) in identifying early Alzheimer's disease (AD) and mild vascular dementia (VaD) in comparison with the conventional Mini-Mental State Examination (MMSE). The study refers to 50 patients with mild dementia of AD, 26 patients with mild dementia of vascular etiology and to 54 cognitively normal subjects. The ACE and MMSE were validated against an expert diagnosis based on a comprehensive diagnostic workup. Statistical analysis was performed using the receiver operator characteristics method. The optimal cut-off score for the ACE for detecting dementia in patients with early AD was 85/86, which had a sensitivity of 93% and a specificity of 86%. The optimal cut-off for the ACE for the identification of dementia in patients with mild VaD was also 85/86 and it had a sensitivity of 93% and a specificity of 100%. The kappa values imply a substantial agreement between the diagnoses made by the ACE and the MMSE. The German version of the ACE is a short and practical but accurate test battery for the identification of AD and VaD, assessing a broad range of cognitive functions and providing a wide profile of cognitive functions/dysfunctions.

  6. Early Onset Squamous Cell Carcinoma In A Case Of Lichen Planus

    Directory of Open Access Journals (Sweden)

    Singh Shri Nath

    1998-01-01

    Full Text Available Lichen planus, which is a very common condition, is being presented. However, the uncommon feature in this cases is its early onset and equally early development of squamous cell carcinoma on a lesion on the right thigh.

  7. Variants of early-onset restrictive eating disturbances in middle childhood.

    Science.gov (United States)

    Kurz, Susanne; van Dyck, Zoé; Dremmel, Daniela; Munsch, Simone; Hilbert, Anja

    2016-01-01

    This study sought to determine the factor structure of the newly developed self-report screening questionnaire Eating Disturbances in Youth-Questionnaire (EDY-Q) as well as to report the distribution of variants of early-onset restrictive eating disturbances characteristic of avoidant/restrictive food intake disorder (ARFID) in a middle childhood population sample. Using the EDY-Q, a total of 1,444 children aged 8-13 years were screened in elementary schools in Switzerland via self-report. The factor analysis of the 12 items covering ARFID related symptoms was performed using a principal component analysis (PCA). The PCA showed a four factor solution, with clear allocation to the scales covering three variants of early-onset restrictive eating disturbances and weight problems. Inadequate overall food intake was reported by 19.3% of the children, a limited accepted amount of food by 26.1%, and food avoidance based on a specific underlying fear by 5.0%. The postulated factor structure of the EDY-Q was confirmed, further supporting the existence of distinct variants of early-onset restrictive eating disturbances. Avoidant/restrictive eating behavior seems to be a common experience in middle childhood, but results have to be confirmed using validated interviews. © 2015 Wiley Periodicals, Inc.

  8. Prolonged Exposure Therapy for a Vietnam Veteran with PTSD and Early-Stage Dementia

    Science.gov (United States)

    Duax, Jeanne M.; Waldron-Perrine, Brigid; Rauch, Sheila A. M.; Adams, Kenneth M.

    2013-01-01

    Although prolonged exposure therapy (PE) is considered an evidence-based treatment for PTSD, there has been little published about the use of this treatment for older adults with comorbid early-stage dementia. As the number of older adults in the United States continues to grow, so will their unique mental health needs. The present article…

  9. CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

    Science.gov (United States)

    Elia, M; Falco, M; Ferri, R; Spalletta, A; Bottitta, M; Calabrese, G; Carotenuto, M; Musumeci, S A; Lo Giudice, M; Fichera, M

    2008-09-23

    To search for CDKL5 gene mutations in boys presenting with severe early-onset encephalopathy and intractable epilepsy, a clinical picture very similar to that already described in girls with CDKL5 mutations. Eight boys (age range 3-16 years, mean age 8.5 years, SD 4.38) with severe or profound mental retardation and early-onset intractable seizures were selected for CDKL5 gene mutation screening by denaturing high-performance liquid chromatography analysis. We found three unrelated boys carrying three different missense mutations of the CDKL5 gene: c.872G>A (p.C291Y), c.863C>T (p.T288I), and c.533G>C (p.R178P). They presented early-onset, polymorphous, and drug-resistant seizures, mostly myoclonic and tonic or spasms. EEG showed epileptiform abnormalities which were multifocal during wakefulness, and pseudoperiodic bisynchronous during sleep. This study describes three boys carrying CDKL5 missense mutations and their detailed clinical and EEG data, and indicates that CDKL5 gene mutations may represent a cause of severe or profound mental retardation and early-onset intractable seizures, also in boys. Screening for CDKL5 mutations is strongly recommended in individuals with these clinical features.

  10. Conversion (dissociative) symptoms as a presenting feature in early onset bipolar disorder: a case series

    OpenAIRE

    Ghosal, Malay Kumar; Guha, Prathama; Sinha, Mausumi; Majumdar, Debabrata; Sengupta, Payel

    2009-01-01

    We present three cases of early onset bipolar disorder where dissociative (conversion) symptoms preceded the onset of mania. This case series underscores the significance of dissociative/conversion symptoms as an early atypical presentation in juvenile bipolar disorder.

  11. Family caregivers of patients with frontotemporal dementia: An integrative review.

    Science.gov (United States)

    Caceres, Billy A; Frank, Mayu O; Jun, Jin; Martelly, Melissa T; Sadarangani, Tina; de Sales, Paloma Cesar

    2016-03-01

    The purpose of this integrative review is to: (1) identify the characteristics of family caregivers of patients with frontotemporal dementia, (2) explore the impact of providing care on family caregivers' health and well-being, and (3) identify coping strategies used by family caregivers. Frontotemporal dementia is thought to be the second most common form of dementia after Alzheimer's disease. Family caregivers of patients with frontotemporal dementia face unique challenges due to its early onset, behavioral symptoms, and slow progression of decline. However, there is a dearth of research evaluating the health and wellbeing of family caregivers of patients with frontotemporal dementia. An integrative review was conducted using the Whittemore and Knafl methodology. An electronic search of the literature was conducted using four electronic databases: PubMed, Embase, CINAHL, and Web of Science. The Crowe Critical Appraisal tool was used to evaluate the quality of the selected articles. Findings of 11 articles informed this integrative review. Family caregivers of patients with frontotemporal dementia identify behavioral disturbances as most troubling. Spouses and female caregivers experience greater caregiver burden, distress, increased rates of depression, as well as decreased sleep related to behavior disturbances. Though less explored, providing care to those with behavioral disturbances may also impact caregiver physical health. Additionally, female caregivers are most likely to employ coping strategies, most commonly, adaptation and reframing. Effective interventions to reduce family caregiver burden are poorly understood but family caregivers suggest education and internet-based support groups are most helpful. Family caregivers of patients with frontotemporal dementia experience significant distress, which impacts their health and wellbeing. It is important for healthcare providers who care for patients with frontotemporal dementia to recognize the unique

  12. Predictors of neonatal outcome in early-onset placental dysfunction

    NARCIS (Netherlands)

    Baschat, Ahmet A.; Cosmi, Erich; Bilardo, Catarina M.; Wolf, Hans; Berg, Christoph; Rigano, Serena; Germer, Ute; Moyano, Dolores; Turan, Sifa; Hartung, John; Bhide, Amarnath; Müller, Thomas; Bower, Sarah; Nicolaides, Kypros H.; Thilaganathan, Baskaran; Gembruch, Ulrich; Ferrazzi, Enrico; Hecher, Kurt; Galan, Henry L.; Harman, Chris R.

    2007-01-01

    To identify specific estimates and predictors of neonatal morbidity and mortality in early onset fetal growth restriction due to placental dysfunction. Prospective multicenter study of prenatally diagnosed growth-restricted liveborn neonates of less than 33 weeks of gestational age. Relationships

  13. Effects of Inhalation Aromatherapy on Symptoms of Sleep Disturbance in the Elderly with Dementia

    Science.gov (United States)

    Watanuki, Emiko

    2017-01-01

    This study investigated the effects of inhalation aromatherapy on sleep disturbance in elderly individuals with dementia. In 19 subjects, normal sleep was observed for a 20-day control period, inhalation aromatherapy was then applied for a 20-day intervention period, and the control and intervention periods were compared. During the intervention period, essential oils were placed nightly on towels around the subjects' pillows. The measured sleep conditions were sleep latency, total sleep time, sleep efficacy, duration of the longest sustained sleep period, wake time after sleep onset, early morning awakening, total daytime sleep, and the Neuropsychiatric Inventory. Total sleep time was significantly longer in the intervention period than in the control period (p aromatherapy on symptoms of sleep disturbance in elderly individuals with dementia. PMID:28400839

  14. Free Recall Episodic Memory Performance Predicts Dementia Ten Years prior to Clinical Diagnosis: Findings from the Betula Longitudinal Study

    Directory of Open Access Journals (Sweden)

    Carl-Johan Boraxbekk

    2015-05-01

    Full Text Available Background/Aims: Early dementia diagnosis is a considerable challenge. The present study examined the predictive value of cognitive performance for a future clinical diagnosis of late-onset Alzheimer's disease or vascular dementia in a random population sample. Methods: Cognitive performance was retrospectively compared between three groups of participants from the Betula longitudinal cohort. Group 1 developed dementia 11-22 years after baseline testing (n = 111 and group 2 after 1-10 years (n = 280; group 3 showed no deterioration towards dementia during the study period (n = 2,855. Multinomial logistic regression analysis was used to investigate the predictive value of tests reflecting episodic memory performance, semantic memory performance, visuospatial ability, and prospective memory performance. Results: Age- and education-corrected performance on two free recall episodic memory tests significantly predicted dementia 10 years prior to clinical diagnosis. Free recall performance also predicted dementia 11-22 years prior to diagnosis when controlling for education, but not when age was added to the model. Conclusion: The present results support the suggestion that two free recall-based tests of episodic memory function may be useful for detecting individuals at risk of developing dementia 10 years prior to clinical diagnosis.

  15. JPH3 Repeat Expansions Cause a Progressive Akinetic-Rigid Syndrome with Severe Dementia and Putaminal Rim in a Five-Generation African-American Family

    Science.gov (United States)

    Schneider, Susanne A.; Marshall, Kate E.; Xiao, Jianfeng; LeDoux, Mark S.

    2012-01-01

    We report the clinical, neuropsychological, genetic and radiological features of a large five-generation African-American kindred from the southern United States presenting with a progressive akinetic-rigid syndrome and severe dementia, but clinically insignificant chorea, due to mutations in JPH3. Overt disease onset was in the mid-twenties to late thirties with cognitive decline, REM sleep disturbance or psychiatric features, followed by development of a levodopa-unresponsive akinetic-rigid motor syndrome. Dystonia and myoclonus were present in some subjects. A bedridden, non-verbal severely akinetic-rigid state developed within 10 to 15 years after onset. CTG repeat expansions ranged from 47 to 53. Imaging revealed generalized cerebral atrophy with severe striatal involvement and putaminal rim hyperintensity. Analysis of our kindred indicates that JPH3 mutations should be considered in the differential diagnosis of early-onset dementia and hypokinetic-rigid syndromes in individuals of African descent. Moreover, chorea may not be overtly manifest at presentation or during significant parts of the disease course. PMID:22447335

  16. Development of the CHARIOT Research Register for the Prevention of Alzheimer's Dementia and Other Late Onset Neurodegenerative Diseases.

    Directory of Open Access Journals (Sweden)

    Mark E Larsen

    Full Text Available Identifying cognitively healthy people at high risk of developing dementia is an ever-increasing focus. These individuals are essential for inclusion in observational studies into the natural history of the prodromal and early disease stages and for interventional studies aimed at prevention or disease modification. The success of this research is dependent on having access to a well characterised, representative and sufficiently large population of individuals. Access to such a population remains challenging as clinical research has, historically, focussed on patients with dementia referred to secondary and tertiary services. The primary care system in the United Kingdom allows access to a true prodromal population prior to symptoms emerging and specialist referral. We report the development and recruitment rates of the CHARIOT register, a primary care-based recruitment register for research into the prevention of dementia. The CHARIOT register was designed specifically to support recruitment into observational natural history studies of pre-symptomatic or prodromal dementia stages, and primary or secondary prevention pharmaceutical trials or other prevention strategies for dementia and other cognitive problems associated with ageing.Participants were recruited through searches of general practice lists across the west and central London regions. Invitations were posted to individuals aged between 60 and 85 years, without a diagnosis of dementia. Upon consent, a minimum data set of demographic and contact details was extracted from the patient's electronic health record.To date, 123 surgeries participated in the register, recruiting a total of 24,509 participants-a response rate of 22.3%. The age, gender and ethnicity profiles of participants closely match that of the overall eligible population. Higher response rates tended to be associated with larger practices (r = 0.34, practices with a larger older population (r = 0.27, less

  17. Associations of personal and family preeclampsia history with the risk of early-, intermediate- and late-onset preeclampsia.

    Science.gov (United States)

    Boyd, Heather A; Tahir, Hassaan; Wohlfahrt, Jan; Melbye, Mads

    2013-12-01

    Preeclampsia encompasses multiple conditions of varying severity. We examined the recurrence and familial aggregation of preeclampsia by timing of onset, which is a marker for severity. We ascertained personal and family histories of preeclampsia for women who delivered live singletons in Denmark in 1978-2008 (almost 1.4 million pregnancies). Using log-linear binomial regression, we estimated risk ratios for the associations between personal and family histories of preeclampsia and the risk of early-onset (before 34 weeks of gestation, which is typically the most severe), intermediate-onset (at 34-36 weeks of gestation), and late-onset (after 36 weeks of gestation) preeclampsia. Previous early-, intermediate-, or late-onset preeclampsia increased the risk of recurrent preeclampsia with the same timing of onset 25.2 times (95% confidence interval (CI): 21.8, 29.1), 19.7 times (95% CI: 17.0, 22.8), and 10.3 times (95% CI: 9.85, 10.9), respectively, compared with having no such history. Preeclampsia in a woman's family was associated with a 24%-163% increase in preeclampsia risk, with the strongest associations for early- and intermediate-onset preeclampsia in female relatives. Preeclampsia in the man's family did not affect a woman's risk of early-onset preeclampsia and was only weakly associated with her risks of intermediate- and late-onset preeclampsia. Early-onset preeclampsia appears to have the largest genetic component, whereas environmental factors likely contribute most to late-onset preeclampsia. The role of paternal genes in the etiology of preeclampsia appears to be limited.

  18. Regional cerebral blood flow in primary degenerative dementia

    International Nuclear Information System (INIS)

    Kawakatsu, Shinobu; Totsuka, Shiro; Shinohara, Masao; Koyama, Hideki; Sagawa, Katsuo; Morinobu, Shigeru; Oiji, Arata; Komatani, Akio

    1991-01-01

    Regional cerebral blood flow (rCBF) was examined, using SPECT by Xe-133 inhalation, in patients with primary degenerative dementia who were subgrouped according to predominant symptoms with respect to amnesia, apraxia, agnosia, aphasia, and personality changes. Also the effect of sex and age at dementia onset on the rCBF patterns was assessed. (author). 26 refs.; 1 fig.; 7 tabs

  19. The impact of initiation: Early onset marijuana smokers demonstrate altered Stroop performance and brain activation

    Directory of Open Access Journals (Sweden)

    K.A. Sagar

    2015-12-01

    Full Text Available Marijuana (MJ use is on the rise, particularly among teens and emerging adults. This poses serious public health concern, given the potential deleterious effects of MJ on the developing brain. We examined 50 chronic MJ smokers divided into early onset (regular MJ use prior to age 16; n = 24 and late onset (age 16 or later; n = 26, and 34 healthy control participants (HCs. All completed a modified Stroop Color Word Test during fMRI. Results demonstrated that MJ smokers exhibited significantly poorer performance on the Interference subtest of the Stroop, as well as altered patterns of activation in the cingulate cortex relative to HCs. Further, early onset MJ smokers exhibited significantly poorer performance relative to both HCs and late onset smokers. Additionally, earlier age of MJ onset as well as increased frequency and magnitude (grams/week of MJ use were predictive of poorer Stroop performance. fMRI results revealed that while late onset smokers demonstrated a more similar pattern of activation to the control group, a different pattern was evident in the early onset group. These findings underscore the importance of assessing age of onset and patterns of MJ use and support the need for widespread education and intervention efforts among youth.

  20. Dural arteriovenous fistula as a treatable dementia.

    Science.gov (United States)

    Enofe, Ikponmwosa; Thacker, Ike; Shamim, Sadat

    2017-04-01

    Dementia is a chronic loss of neurocognitive function that is progressive and irreversible. Although rare, dural arteriovenous fistulas (DAVFs) could present with a rapid decline in neurocognitive function with or without Parkinson-like symptoms. DAVFs represent a potentially treatable and reversible cause of dementia. Here, we report the case of an elderly woman diagnosed with a DAVF after presenting with new-onset seizures, deteriorating neurocognitive function, and Parkinson-like symptoms.

  1. A clinical registry of dementia based on the principle of epidemiological surveillance

    Directory of Open Access Journals (Sweden)

    Turbau Josefina

    2009-01-01

    Full Text Available Abstract Background Traditional epidemiological studies do not allow elucidating the reality of referral and diagnosis patterns of dementia in routine clinical practice within a defined territory. This information is useful and necessary in order to plan and allocate healthcare resources. This paper presents the results from a dementia case registry based on epidemiological surveillance fundamentals. Methods Standardised registry of dementia diagnoses made in 2007 by specialised care centres in the Health Region of Girona (RSG (Spain, which encompasses an area of 5,517 sq. km and a reference population of 690,207 inhabitants. Results 577 cases of dementia were registered, of which 60.7% corresponded to cases of Alzheimer's disease. Presenile dementia accounted for 9.3% of the cases. Mean time between the onset of symptoms and clinical diagnosis was 2.4 years and the severity of the dementia was mild in 60.7% of the cases. High blood pressure, a family history of dementia, dislipidemia, and a past history of depression were the most common conditions prior to the onset of the disease (>20%. Conclusion The ReDeGi is a viable epidemiological surveillance device that provides information about the clinical and demographic characteristics of patients diagnosed with dementia in a defined geographical area.

  2. A clinical registry of dementia based on the principle of epidemiological surveillance

    Science.gov (United States)

    Garre-Olmo, Josep; Flaqué, Margarita; Gich, Jordi; Pulido, Teresa Osuna; Turbau, Josefina; Vallmajo, Natalia; Viñas, Marta; López-Pousa, Secundí

    2009-01-01

    Background Traditional epidemiological studies do not allow elucidating the reality of referral and diagnosis patterns of dementia in routine clinical practice within a defined territory. This information is useful and necessary in order to plan and allocate healthcare resources. This paper presents the results from a dementia case registry based on epidemiological surveillance fundamentals. Methods Standardised registry of dementia diagnoses made in 2007 by specialised care centres in the Health Region of Girona (RSG) (Spain), which encompasses an area of 5,517 sq. km and a reference population of 690,207 inhabitants. Results 577 cases of dementia were registered, of which 60.7% corresponded to cases of Alzheimer's disease. Presenile dementia accounted for 9.3% of the cases. Mean time between the onset of symptoms and clinical diagnosis was 2.4 years and the severity of the dementia was mild in 60.7% of the cases. High blood pressure, a family history of dementia, dislipidemia, and a past history of depression were the most common conditions prior to the onset of the disease (>20%). Conclusion The ReDeGi is a viable epidemiological surveillance device that provides information about the clinical and demographic characteristics of patients diagnosed with dementia in a defined geographical area. PMID:19175921

  3. Early-Onset Bipolar Disorder: Characteristics and Outcomes in the Clinic.

    Science.gov (United States)

    Connor, Daniel F; Ford, Julian D; Pearson, Geraldine S; Scranton, Victoria L; Dusad, Asha

    2017-12-01

    To assess patient characteristics and clinician-rated outcomes for children diagnosed with early-onset bipolar disorder in comparison to a depressive disorders cohort from a single clinic site. To assess predictors of bipolar treatment response. Medical records from 714 consecutive pediatric patients evaluated and treated at an academic tertiary child and adolescent psychiatry clinic between 2006 and 2012 were reviewed. Charts of bipolar children (n = 49) and children with depressive disorders (n = 58) meeting study inclusion/exclusion criteria were compared on variables assessing clinical characteristics, treatments, and outcomes. Outcomes were assessed by using pre- and post-Clinical Global Impressions (CGI)-Severity and Children's Global Assessment Scale (CGAS) scores, and a CGI-Improvement score ≤2 at final visit determined responder status. Bipolar outcome predictors were assessed by using multiple linear regression. Clinic prevalence rates were 6.9% for early-onset bipolar disorder and 1.5% for very early-onset bipolar disorder. High rates of comorbid diagnoses, symptom severity, parental stress, and child high-risk behaviors were found in both groups. The bipolar cohort had higher rates of aggression and higher lifetime systems of care utilization. The final CGI and CGAS outcomes for unipolar depression patients differed statistically significantly from those for the bipolar cohort, reflecting better clinical status and more improvement at outcome for the depression patients. Both parent-reported Child Behavior Checklist total T-score at clinic admission and the number of lifetime systems-of-care for the child were significantly and inversely associated with improvement for the bipolar cohort. Early-onset bipolar disorder is a complex and heterogeneous psychiatric disorder. Evidence-based treatment should emphasize psychopharmacology with adjunctive family and individual psychotherapy. Strategies to improve engagement in treatment may be especially

  4. Early-Onset Creutzfeldt-Jakob Disease Mimicking Immune-Mediated Encephalitis

    Directory of Open Access Journals (Sweden)

    Wietse A. Wiels

    2018-04-01

    Full Text Available ObjectivesThe objective of this study is to explore the clinical, radiological, and pathological manifestations of a rare subtype of prion disease and their implication for differential diagnosis in case of an early onset neuropsychiatric deterioration.MethodsWe discuss a patients’ clinical history, as well as the string of investigations and symptomatological evolution that finally led to a pathological diagnosis.ResultsOur patient had the extremely rare VV1 type sporadic Creutzfeldt-Jakob disease (sCJD. We explain the differential diagnosis of progressive encephalomyelitis with rigidity and myoclonus and its implications for treatment.ConclusionsCJD, especially the VV1 subtype, can present at an early age with an insidious psychiatric onset. Classical findings of prion disease—14-3-3 protein, PSWC on electroencephalography, and magnetic resonance imaging patterns—are not always present. The presence of neural autoantibodies does not always implicate pathogenicity in the presence of other neurological/neurodegenerative conditions.

  5. Awareness of dementia by family carers of nursing home residents dying with dementia: a post-death study.

    Science.gov (United States)

    Penders, Yolanda W H; Albers, Gwenda; Deliens, Luc; Vander Stichele, Robert; Van den Block, Lieve

    2015-01-01

    High-quality palliative care for people with dementia should be patient-centered, family-focused, and include well-informed and shared decision-making, as affirmed in a recent white paper on dementia from the European Association for Palliative Care. To describe how often family carers of nursing home residents who died with dementia are aware that their relative has dementia, and study resident, family carer, and care characteristics associated with awareness. Post-death study using random cluster sampling. Structured questionnaires were completed by family carers, nursing staff, and general practitioners of deceased nursing home residents with dementia in Flanders, Belgium (2010). Of 190 residents who died with dementia, 53.2% of family carers responded. In 28% of cases, family carers indicated they were unaware their relative had dementia. Awareness by family carers was related to more advanced stages of dementia 1 month before death (odds ratio = 5.4), with 48% of family carers being unaware when dementia was mild and 20% unaware when dementia was advanced. The longer the onset of dementia after admission to a nursing home, the less likely family carers were aware (odds ratio = 0.94). Family carers are often unaware that their relative has dementia, that is, in one-fourth of cases of dementia and one-fifth of advanced dementia, posing considerable challenges for optimal care provision and end-of-life decision-making. Considering that family carers of residents who develop dementia later after admission to a nursing home are less likely to be aware, there is room for improving communication strategies toward family carers of nursing home residents. © The Author(s) 2014.

  6. Exploring frontotemporal dementia through a case report: An emerging public health concern in disguise

    Directory of Open Access Journals (Sweden)

    Nitin Khadilkar

    2015-01-01

    Full Text Available Dementia has been declared by the World Health Organization as a significant public health problem around the world. Frontotemporal dementia (FTD is a lesser known, yet the second most common type of dementia among older adults under the age of 65 years. Age of onset in FTD is around late fifties, which is not typical for a diagnosis of dementia. In dementia, it is common to see psychiatric symptoms such as hallucinations or delusions as initial presentations. However, FTD may mimic mood disorders. Unfortunately, there are no definitive treatments or ways to prevent FTD. Additionally, challenges such as an earlier age of onset, delay in diagnosis, and difficulties with placement in nursing homes may be encountered while treating FTD patients. Here, we explore FTD through the case of a 61-year-old Caucasian female who initially presented with suicidal ideations.

  7. Interactive Digital Serious Games for the Assessment, Rehabilitation, and Prediction of Dementia

    Directory of Open Access Journals (Sweden)

    Sayed Kazmi

    2014-01-01

    Full Text Available Dementia is a serious, progressive, and often debilitating illness with no known cure, having a severe adverse effect on memory, behaviour, reasoning, and communication. A comprehensive review of current refereed research material in the use of games in this area is scarce and suffers from being orientated towards commercially available games or derivatives such as “Dr. Kawashima’s brain training.” There is much lesser concern for bespoke research grade alternatives. This review will attempt to assess the current state of the art in research orientated games for dementia, importantly identifying systems capable of prediction before the onset of the disease. It can be ascertained from the literature reviewed that there are clearly a large number of interactive computer game based mechanisms used for dementia. However, these are each highly intrusive in terms of affecting normal living and the patient is aware of being tested; furthermore their long-term or real benefits are unknown as is their effect over conventional tests. It is important to predict cognitive impairment at a stage early enough to maximise benefit from treatment and therapeutic intervention. Considering the availability, use, and increasing power of modern mobile smartphones, it is logically plausible to explore this platform for dementia healthcare.

  8. Parental and Child Characteristics Related to Early-Onset Disordered Eating: A Systematic Review.

    Science.gov (United States)

    Larsen, Pernille Stemann; Strandberg-Larsen, Katrine; Micali, Nadia; Andersen, Anne-Marie Nybo

    2015-01-01

    After participating in this activity, learners should be better able to: Evaluate the evidence regarding parental and child characteristics related to early-onset disordered eating. Eating disorders are rare in children, but disordered eating is common. Understanding the phenomenology of disordered eating in childhood can aid prevention of full-blown eating disorders. The purpose of this review is to systematically extract and synthesize the evidence on parental and child characteristics related to early-onset disordered eating. Systematic searches were conducted in PubMED/MEDLINE, EMBASE, and PsycInfo using the following search terms: eating disorder, disordered eating, problem eating, anorexia nervosa, bulimia nervosa, binge eating, child, preadolescent, and early onset. Studies published from 1990 to 2013 addressing parental and child characteristics of disordered eating in children aged 6 to 12 years were eligible for inclusion. The search was restricted to studies with cross-sectional, case-control, or longitudinal designs, studies in English, and with abstracts available. Forty-four studies fit these criteria. Most studies were based on community samples with a cross-sectional design. The included studies varied considerably in size, instruments used to assess early-onset disordered eating, and parental and child characteristics investigated. Important determinants included the following: higher body weight, previously reported disordered eating, body dissatisfaction, depression, parental disordered eating, and parental comments/concerns about child's weight and eating. The findings were inconsistent for sex, age, socioeconomic status, ethnicity, self-esteem/worth, and parental body weight. In conclusion, characteristics related to early-onset disordered eating have mainly been explored with a cross-sectional design. Full understanding of causal pathways will require good-quality longitudinal studies designed to address the influence of parental eating

  9. Advance Care Planning in Dementia: Do Family Carers Know the Treatment Preferences of People with Early Dementia?

    Directory of Open Access Journals (Sweden)

    Karen Harrison Dening

    Full Text Available When a person with dementia (PWD has lost the ability to make treatment decisions, clinicians often rely on family carers to know and articulate these preferences with assumed accuracy. This study used the Life Support Preferences Questionnaire (LSPQ to explore whether family carers' choices show agreement with the end of life care preferences of the person with dementia for whom they care and what factors influence this.A cross-sectional study interviewing 60 dyads (a person with early dementia and preserved capacity and their family carer each completing a modified LSPQ. We assessed how closely carers' choices resembled the PWD's preferences for treatment in three proposed health states: the here and now; severe stroke with coma; terminal cancer. Agreement between the PWD and their family carer responses was assessed using Kappa and Prevalence-Adjusted Bias-Adjusted Kappa (PABAK statistics. We examined whether carer burden and distress, and relationship quality, influenced agreement.In interviews PWD were able to indicate their treatment preferences across all three scenarios. In the here-and-now most wanted antibiotics (98%, fewer cardio-pulmonary resuscitation (CPR (50% and tube feeding (47%. In severe stroke and coma antibiotics remained the more preferred treatment (88%, followed by CPR (57% and tube feeding (30%. In advanced cancer PWD expressed lower preferences for all treatments (antibiotics 68%; CPR 50%; tube feeding 37%. Carers' choices were similar to the PWDs' preferences in the here-and-now (71% (k = 0.03; PABAK = 0.4 with less agreement for future hypothetical health states. In severe stroke and coma carers tended wrongly to suggest that the PWD preferred more intervention (antibiotic, 67%; k = -0.022; PABAK = -0.60; CPR, 73%; k = 0.20; PABAK = -0.20, tube feeding, 66%; k = 0.25; PABAK = -0.12. In advanced cancer the agreement between PWD and carers was low (antibiotics; k = -0.03; PABAK = -0.52; CPR, k = -0.07; PABAK = -0

  10. Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

    Science.gov (United States)

    Le Ber, Isabelle; De Septenville, Anne; Guerreiro, Rita; Bras, José; Camuzat, Agnès; Caroppo, Paola; Lattante, Serena; Couarch, Philippe; Kabashi, Edor; Bouya-Ahmed, Kawtar; Dubois, Bruno; Brice, Alexis

    2014-10-01

    TREM2 mutations were first identified in Nasu-Hakola disease, a rare autosomal recessive disease characterized by recurrent fractures because of bone cysts and presenile dementia. Recently, homozygous and compound heterozygous TREM2 mutations were identified in rare families with frontotemporal lobar degeneration (FTLD) but without bone involvement. We identified a p.Thr66Met heterozygous mutation in a new consanguineous Italian family. Two sibs had early onset autosomal recessive FTLD without severe bone disorders. Atypical signs were present in this family: early parietal and hippocampus involvement, parkinsonism, epilepsy, and corpus callosum thickness on brain magnetic resonance imaging. This study further demonstrates the implication of TREM2 mutations in FTLD phenotypes. It illustrates the variability of bone phenotype and underlines the frequency of atypical signs in TREM2 carriers. This and previous studies evidence that TREM2 mutation screening should be limited to autosomal recessive FTLD with atypical phenotypes characterized by: (1) a very young age at onset (20-50 years); (2) early parietal and hippocampal deficits; (3) the presence of seizures and parkinsonism; (4) suggestive extensive white matter lesions and corpus callosum thickness on brain magnetic resonance imaging. Copyright © 2014 Elsevier Inc. All rights reserved.

  11. STAT4 polymorphism is associated with early-onset type 1 diabetes, but not with late-onset type 1 diabetes.

    Science.gov (United States)

    Lee, Hye-Soon; Park, Hyewon; Yang, Seiwon; Kim, Dukhee; Park, Yongsoo

    2008-12-01

    In an effort to discover non-HLA genes affecting susceptibility to type 1 diabetes (T1D), we have investigated the association of polymorphisms in STAT4, an important signaling molecule of IL-12, gammaIFN, and IL-23, in a sample of 389 T1D patients and 152 nondiabetic controls in Korea. Four SNPs on chromosome 2q, which were recently found to be associated with rheumatoid arthritis, were examined for association and linkage disequilibrium. We found that neither alleles or genotypes among all four SNPs nor reconstructed haplotypes of the three SNPs within the same LD block (rs7574865, rs8179673, and rs10181656) were associated with susceptibility to T1D. When we stratified T1D patients into early-onset and late-onset subgroups on the basis of fewer or more than 7.8 years of age at diagnosis, however, the minor alleles of three SNPs (rs7574865, rs8179673, and rs10181656) showed a significant association with susceptibility to T1D in the early-onset subgroup (i.e., rs7574865, OR = 1.44 [1.03-2.01], P rs7574865, rs8179673, and rs10181656) showed very comparable degrees of risk for T1D. The age at diagnosis is lowest in the patients carrying the homozygotes of a minor allele, middle in the heterozygotes, and highest in the homozygotes of a major allele, suggesting the dosage effects of risk alleles on the age of onset of disease. Recognizing that only the early-onset cases might represent the true autoimmune T1D in Asian populations, we see that STAT4 alleles and haplotype might influence cytokine signaling and, therefore, development of T1D.

  12. Deficits in Facial Expression Recognition in Male Adolescents with Early-Onset or Adolescence-Onset Conduct Disorder

    Science.gov (United States)

    Fairchild, Graeme; Van Goozen, Stephanie H. M.; Calder, Andrew J.; Stollery, Sarah J.; Goodyer, Ian M.

    2009-01-01

    Background: We examined whether conduct disorder (CD) is associated with deficits in facial expression recognition and, if so, whether these deficits are specific to the early-onset form of CD, which emerges in childhood. The findings could potentially inform the developmental taxonomic theory of antisocial behaviour, which suggests that…

  13. The clinical utility of naturalistic action test in differentiating mild cognitive impairment from early dementia in memory clinic.

    Science.gov (United States)

    Bruce, Irene; Ntlholang, Ontefetse; Crosby, Lisa; Cunningham, Conal; Lawlor, Brian

    2016-03-01

    This study aimed to examine the validity of the Naturalistic Action Test in differentiating Mild Cognitive Impairment from early dementia compared to clinical diagnosis and ascertain Naturalistic Action Test cut-off points. This was a cross-sectional study of 70 consecutive patients diagnosed with Mild Cognitive Impairment attending the memory clinic in St James's Hospital, Dublin, Ireland. Patients with a diagnosis of Mild Cognitive Impairment who attended for routine annual assessment were asked to participate in the study. The Naturalistic Action Test was carried out after the patient had completed their routine assessment in the clinic. The Area under the Curve, AUC ± SE was 0.808 ± 0.058, p Cognitive Impairment in our study (PPV 50%, NPV 91%, sensitivity 78%, specificity 73% and accuracy of 74%). There was discrepancy in 18 patients using the new cut-off point (≥11 for Mild Cognitive Impairment vs ≤10 for dementia). The Naturalistic Action Test is a useful tool that can increase diagnostic accuracy in differentiating Mild Cognitive Impairment from early dementia. Copyright © 2015 John Wiley & Sons, Ltd.

  14. Spousal caregivers and persons with dementia: Increasing participation in shared leisure activities among hospital-based dementia support program participants.

    Science.gov (United States)

    DiLauro, Michelle; Pereira, Amanda; Carr, Jennifer; Chiu, Mary; Wesson, Virginia

    2015-02-20

    Spousal caregivers of persons with dementia often have difficulty engaging persons with dementia in leisure activities. This qualitative descriptive study identifies how caregivers perceive their spouses' participation in leisure activities since dementia onset and the professional guidance caregivers require to increase persons with dementia participation in shared leisure activities. Nine spousal caregivers from a hospital-based caregiver intervention attended one of three focus groups. Using symbolic interactionism and selective optimization with compensation theory as guiding frameworks, thematic content analysis was performed. Three major themes were identified: Recognizing and acknowledging changes, Making sense of changes and conflicts, and Embracing changes and forging ahead. Findings can be used by healthcare providers to better understand caregivers' needs for engaging persons with dementia in shared leisure activities, and inform development of feedback protocols to enhance caregiver interventions. © The Author(s) 2015 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  15. [Analysis of gene mutation of early onset epileptic spasm with unknown reason].

    Science.gov (United States)

    Yang, X; Pan, G; Li, W H; Zhang, L M; Wu, B B; Wang, H J; Zhang, P; Zhou, S Z

    2017-11-02

    Objective: To summarize the gene mutation of early onset epileptic spasm with unknown reason. Method: In this prospective study, data of patients with early onset epileptic spasm with unknown reason were collected from neurological department of Children's Hospital of Fudan University between March 2016 and December 2016. Patients with known disorders such as infection, metabolic, structural, immunological problems and known genetic mutations were excluded. Patients with genetic disease that can be diagnosed by clinical manifestations and phenotypic characteristics were also excluded. Genetic research methods included nervous system panel containing 1 427 epilepsy genes, whole exome sequencing (WES), analysis of copy number variation (CNV) and karyotype analysis of chromosome. The basic information, phenotypes, genetic results and the antiepileptic treatment of patients were analyzed. Result: Nine of the 17 cases with early onset epileptic spasm were boys and eight were girls. Patients' age at first seizure onset ranged from 1 day after birth to 8 months (median age of 3 months). The first hospital visit age ranged from 1 month to 2 years (median age of 4.5 months). The time of following-up ranged from 8 months to 3 years and 10 months. All the 17 patients had early onset epileptic spasm. Video electroencephalogram was used to monitor the spasm seizure. Five patients had Ohtahara syndrome, 10 had West syndrome, two had unclear classification. In 17 cases, 10 of them had detected pathogenic genes. Nine cases had point mutations, involving SCN2A, ARX, UNC80, KCNQ2, and GABRB3. Except one case of mutations in GABRB3 gene have been reported, all the other cases had new mutations. One patient had deletion mutation in CDKL5 gene. One CNV case had 6q 22.31 5.5MB repeats. Ten cases out of 17 were using 2-3 antiepileptic drugs (AEDs) and the drugs had no effect. Seven cases used adrenocorticotropic hormone (ACTH) and prednisone besides AEDs (a total course for 8 weeks

  16. Development of automatic extraction of the corpus callosum from magnetic resonance imaging of the head and examination of the early dementia objective diagnostic technique in feature analysis

    International Nuclear Information System (INIS)

    Kodama, Naoki; Kaneko, Tomoyuki

    2005-01-01

    We examined the objective diagnosis of dementia based on changes in the corpus callosum. We examined midsagittal head MR images of 17 early dementia patients (2 men and 15 women; mean age, 77.2±3.3 years) and 18 healthy elderly controls (2 men and 16 women; mean age, 73.8±6.5 years), 35 subjects altogether. First, the corpus callosum was automatically extracted from the MR images. Next, early dementia was compared with the healthy elderly individuals using 5 features of the straight-line methods, 5 features of the Run-Length Matrix, and 6 features of the Co-occurrence Matrix from the corpus callosum. Automatic extraction of the corpus callosum showed an accuracy rate of 84.1±3.7%. A statistically significant difference was found in 6 of the 16 features between early dementia patients and healthy elderly controls. Discriminant analysis using the 6 features demonstrated a sensitivity of 88.2% and specificity of 77.8%, with an overall accuracy of 82.9%. These results indicate that feature analysis based on changes in the corpus callosum can be used as an objective diagnostic technique for early dementia. (author)

  17. Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy.

    Science.gov (United States)

    Lai, Chih-Jou; Hsu, Ting-Rong; Yang, Chia-Feng; Chen, Shyi-Jou; Chuang, Ya-Chin; Niu, Dau-Ming

    2016-12-01

    Most patients with infantile-onset Pompe disease die in early infancy before beginning enzyme replacement therapy, which has made it difficult to evaluate the impact of Pompe disease on cognitive development. Patients with infantile-onset Pompe disease can survive with enzyme replacement therapy, and physicians can evaluate cognitive development in these patients. We established an effective newborn screening program with quick clinical diagnostic criteria. Cognitive and motor development were evaluated using the Bayley Scales of Infant and Toddler Development-Third Edition at 6, 12, and 24 months of age. The patients who were treated very early demonstrate normal cognitive development with no significant change in cognition during this period (P = .18 > .05). The cognitive development was positively correlated with motor development (r = 0.533, P = .011). The results indicated that very early enzyme replacement therapy could protect cognitive development in patients with infantile-onset Pompe disease up to 24 months of age. © The Author(s) 2016.

  18. Neurosyphilis with dementia and bilateral hippocampal atrophy on brain magnetic resonance imaging

    International Nuclear Information System (INIS)

    Mehrabian, S.; Raycheva, M.; Traykova, M.; Stankova, T.; Penev, L.; Georgieva-Kozarova, G.; Grigorova, O.; Traykov, L.

    2012-01-01

    Full text: Background: This article reports a rare case of active neurosyphilis in a 33-years-old man with mild to moderate dementia and marked hippocampal atrophy, mimicking early onset Alzheimer's disease. Few number of cases described bilateral hippocampal atrophy mimicking Alzheimer's disease in neurosyphilis. Case presentation: The clinical feature is characterized by a progressive cognitive decline and behavioral changes for the last 18 months. Neuropsychological examination revealed mild to moderate dementia (MMSE=16) with impaired memory, attention and executive dysfunction. Pyramidal, extrapyramidal signs, dysarthria and impairment in coordination were documented. Brain magnetic resonance imaging showed cortical atrophy with marked bilateral hippocampal atrophy. The diagnosis of active neurosyphilis was based on positive results of Venereal Disease Research Laboratory test - Treponema Pallidum. Hemagglutination reactions in blood and cerebrospinal fluid samples. In addition, cerebrospinal fluid analysis showed pleocytosis and elevated protein levels. High dose intravenous penicillin therapy was administered. During the follow up examination at 6 month, the clinical signs, and neuropsychological examinations, and cerebrospinal fluid samples showed improvement. Conclusion: This case underlines the importance of early diagnosis of neurosyphilis. The results suggest that neurosyphilis should be considered when magnetic resonance imaging results indicate mesiotemporal abnormalities and hippocampal atrophy. Neurosyphilis is a treatable condition and needs early aggressive antibiotic therapy

  19. Prevalence of major depressive disorder and dementia in psychogeriatric outpatients.

    Science.gov (United States)

    Chinello, A; Grumelli, B; Perrone, C; Annoni, G

    2007-01-01

    The relationship between depression and dementia in the elderly has been widely investigated, but the real interplay between these variables is still not clear. This observational study highlights the influence of some basic variables, such as sex and age, in the development of dementia and major depression. It shows (i) the importance of sex in the age of onset of depression and dementia, (ii) the presence of two types of depressive syndrome, the first linked to the development of dementia, the second as reactive depression; (iii) the need for more attention to depressive symptoms in young-elderly men.

  20. Engaging with Dementia: Moral Experiments in Art and Friendship.

    Science.gov (United States)

    Taylor, Janelle S

    2017-06-01

    The box-office as well as critical success of the 2014 major motion picture Still Alice, starring Julianne Moore in the title role and based on the bestselling novel of the same name by the Harvard-trained neuroscientist Lisa Genova (Still Alice. Simon & Schuster, New York, 2009), marked an important moment in public cultural representations of people with dementia. Still Alice tells the story of Alice Howland, an eminent scientist whose increasing memory lapses are eventually diagnosed as early-onset Alzheimer's, and chronicles the transformations in her family relationships as her husband and three children respond to her decline in different ways. Alice's husband, her son, and her older daughter all respond by turning toward science, while her younger daughter Lydia seeks to engage her mother as she is now, and turns toward art and relationships. Taking Still Alice and the figure of Lydia as an entry point, I discuss arts-focused efforts to improve the lives of people with dementia, and draw upon ongoing interview-based research on the topic of dementia and friendship, to offer an account of some of the ways that people I have spoken with are actively experimenting with art and with relationships in the face of dementia. I argue that these efforts can be understood as "moral experiements," in the sense articulated by Cheryl Mattingly (Moral Laboratories: Family Peril and the Struggle for a Good Life. University of California Press, Berkeley, 2014). Although Lydia is a fictional character, her response to Alice's dementia points toward the kinds of moral experimentation that are in fact possible, and quietly being practiced, by ordinary people every day.

  1. CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis

    NARCIS (Netherlands)

    Ozen, Ahmet; Comrie, William A; Ardy, Rico C; Domínguez Conde, Cecilia; Dalgic, Buket; Beser, Ömer F; Morawski, Aaron R; Karakoc-Aydiner, Elif; Tutar, Engin; Baris, Safa; Ozcay, Figen; Serwas, Nina K; Zhang, Yu; Matthews, Helen F; Pittaluga, Stefania; Folio, Les R; Unlusoy Aksu, Aysel; McElwee, Joshua J; Krolo, Ana; Kiykim, Ayca; Baris, Zeren; Gulsan, Meltem; Ogulur, Ismail; Snapper, Scott B; Houwen, Roderick H J; Leavis, Helen L; Ertem, Deniz; Kain, Renate; Sari, Sinan; Erkan, Tülay; Su, Helen C; Boztug, Kaan; Lenardo, Michael J

    2017-01-01

    BACKGROUND: Studies of monogenic gastrointestinal diseases have revealed molecular pathways critical to gut homeostasis and enabled the development of targeted therapies. METHODS: We studied 11 patients with abdominal pain and diarrhea caused by early-onset protein-losing enteropathy with primary

  2. Dementia After Moderate-Severe Traumatic Brain Injury: Coexistence of Multiple Proteinopathies.

    Science.gov (United States)

    Kenney, Kimbra; Iacono, Diego; Edlow, Brian L; Katz, Douglas I; Diaz-Arrastia, Ramon; Dams-O'Connor, Kristen; Daneshvar, Daniel H; Stevens, Allison; Moreau, Allison L; Tirrell, Lee S; Varjabedian, Ani; Yendiki, Anastasia; van der Kouwe, Andre; Mareyam, Azma; McNab, Jennifer A; Gordon, Wayne A; Fischl, Bruce; McKee, Ann C; Perl, Daniel P

    2018-01-01

    We report the clinical, neuroimaging, and neuropathologic characteristics of 2 patients who developed early onset dementia after a moderate-severe traumatic brain injury (TBI). Neuropathological evaluation revealed abundant β-amyloid neuritic and cored plaques, diffuse β-amyloid plaques, and frequent hyperphosphorylated-tau neurofibrillary tangles (NFT) involving much of the cortex, including insula and mammillary bodies in both cases. Case 1 additionally showed NFTs in both the superficial and deep cortical layers, occasional perivascular and depth-of-sulci NFTs, and parietal white matter rarefaction, which corresponded with decreased parietal fiber tracts observed on ex vivo MRI. Case 2 additionally showed NFT predominance in the superficial layers of the cortex, hypothalamus and brainstem, diffuse Lewy bodies in the cortex, amygdala and brainstem, and intraneuronal TDP-43 inclusions. The neuropathologic diagnoses were atypical Alzheimer disease (AD) with features of chronic traumatic encephalopathy and white matter loss (Case 1), and atypical AD, dementia with Lewy bodies and coexistent TDP-43 pathology (Case 2). These findings support an epidemiological association between TBI and dementia and further characterize the variety of misfolded proteins that may accumulate after TBI. Analyses with comprehensive clinical, imaging, genetic, and neuropathological data are required to characterize the full clinicopathological spectrum associated with dementias occurring after moderate-severe TBI. 2017 American Association of Neuropathologists, Inc. This work is written by US Government employees and is in the public domain in the US.

  3. First impression at stroke onset plays an important role in early hospital arrival.

    Science.gov (United States)

    Iguchi, Yasuyuki; Wada, Kuniyasu; Shibazaki, Kensaku; Inoue, Takeshi; Ueno, Yuji; Yamashita, Shinji; Kimura, Kazumi

    2006-01-01

    Treatment for acute ischemic stroke should be administered as soon as possible after symptom onset. The aim of this study was to investigate whether or not the patient's and bystander's first impression at stroke onset was associated with hospital arrival time. To investigate the factors influencing the prehospital delay, we prospectively interviewed consecutive stroke patients and bystanders about their first impression at the stroke onset and assessed the methods of transportation, and clinical characteristics. Early arrival was defined as a hospital arrival of within 2 h from stroke onset. One hundred thirty patients were enrolled: 82% were ischemic stroke and 18% were cerebral hemorrhage. The median interval between symptom onset and the hospital arrival was 7.5 h and 30% of patients presented within 2 h of stroke onset. First impression of stroke (odds ratios [OR] 4.56, 95% confidence interval [CI] 1.54-13.5, p=0.006), presence of consciousness disturbance (OR 4.29, CI 1.39-13.3, p=0.011), arrival through other facilities (OR 0.25, CI 0.08-0.76, p=0.015), a history of diabetes (OR 0.23, CI 0.06-0.80, p=0.028) and nocturnal onset (OR 0.19, CI 0.04-0.88, p=0.042) independently contributed to the early arrival. The first impression of patients and bystanders at stroke onset is important in order to reach hospital earlier in Japan. Public educational systems such as those, which advertise stroke warning signs, are necessary.

  4. Association of Crossword Puzzle Participation with Memory Decline in Persons Who Develop Dementia

    Science.gov (United States)

    Pillai, Jagan A.; Hall, Charles B.; Dickson, Dennis W.; Buschke, Herman; Lipton, Richard B.; Verghese, Joe

    2013-01-01

    Participation in cognitively stimulating leisure activities such as crossword puzzles may delay onset of the memory decline in the preclinical stages of dementia, possibly via its effect on improving cognitive reserve. We followed 488 initially cognitively intact community residing individuals with clinical and cognitive assessments every 12–18 months in the Bronx Aging Study. We assessed the influence of crossword puzzle participation on the onset of accelerated memory decline as measured by the Buschke Selective Reminding Test in 101 individuals who developed incident dementia using a change point model. Crossword puzzle participation at baseline delayed onset of accelerated memory decline by 2.54 years. Inclusion of education or participation in other cognitively stimulating activities did not significantly add to the fit of the model beyond the effect of puzzles. Our findings show that late life crossword puzzle participation, independent of education, was associated with delayed onset of memory decline in persons who developed dementia. Given the wide availability and accessibility of crossword puzzles, their role in preventing cognitive decline should be validated in future clinical trials. PMID:22040899

  5. The Constellation of Macrovascular Risk Factors in Early Onset T2DM: A Cross-Sectional Study in Xinjiang Province, China

    Directory of Open Access Journals (Sweden)

    Mingchen Zhang

    2018-01-01

    Full Text Available Background. Despite a rapid popular of early onset type 2 diabetes (defined as diagnosis at <40 years old recently, there is a lack of studies on this population in economically undeveloped area. We aimed to investigate the risk factors of macrovascular complications in the early onset T2DM patients in Xinjiang, China. Methods. A cross-sectional survey of 1736 consecutive patients with T2DM was conducted. Macrovascular complications and risk factors were documented. Another nondiabetic population matched with age and sex was as a control group. Logistic regression analysis was performed to obtain odds ratios (OR for macrovascular complications in early and late onset T2DM, respectively. Results. The final analysis consisted of 1036 late onset and 219 early onset T2DM patients. The mean HbA1c in the early onset group was higher than that in the late onset group (9.1 ± 2.4% versus 8.3 ± 2.2%, P=0.039 despite a higher proportion of patients in the early onset group receiving insulin treatment (73.1% versus 58.7%, P<0.001. Compared to the control, early onset patients had higher blood pressure and worse lipid profiles (all P<0.01. More than half of the early onset T2DM patients already had macro- and microvascular complications, despite of their young age (39.5 ± 10.8 and short DM duration (6.6 ± 8.0. In the early onset group, women had a ~3-fold hazard of atherosclerotic plaques compared with men (OR 3.22, 95% CI 1.53–6.78. Conclusions. Patients with early onset T2DM have worse glycemic control and higher burden of atherogenic risk factors. The prevalence of macro- and microvascular complications is astonishingly high in these young adults with T2DM. Moreover, young women with T2DM are more susceptible to cardiovascular complications than their male counterpart.

  6. Predictors of Cognitive and Functional Decline in Patients With Alzheimer Disease Dementia From Brazil.

    Science.gov (United States)

    Oliveira, Fabricio F; Chen, Elizabeth S; Smith, Marilia C; Bertolucci, Paulo H F

    2016-01-01

    Little is known on how risk factors for Alzheimer disease (AD) dementia affect disease progression, much less for populations with low mean schooling, whereas the transcription of APOE may be regulated by nongenetic factors. In this 44-month cohort study, 214 consecutive outpatients with late-onset AD were assessed for rates of cognitive and functional decline by way of Clinical Dementia Rating and Mini-Mental State Examination (MMSE) scores, keeping blinded assessment of APOE haplotypes. Subjects were evaluated for sex, schooling, age of dementia onset, and cerebrovascular risk factors (including Framingham risk scores). Of the 214 patients, there were 146 (68.2%) women and 113 (52.8%) APOE4+ carriers. The mean age of AD onset was 73.4±6.5 years-old, negatively correlated with time to Clinical Dementia Rating >1.0 (β=-0.132; ρrisk was correlated with time to MMSE=20 only for APOE4+ carriers (ρ=0.015). These outcomes suggest interactions among genomic effects of cognitive reserve, cerebral perfusion, and hormonal changes over mechanisms of neurodegeneration.

  7. Maternal left ventricular hypertrophy and diastolic dysfunction and brain natriuretic peptide concentration in early- and late-onset pre-eclampsia.

    Science.gov (United States)

    Borges, V T M; Zanati, S G; Peraçoli, M T S; Poiati, J R; Romão-Veiga, M; Peraçoli, J C; Thilaganathan, B

    2018-04-01

    Pre-eclampsia (PE) is associated with maternal cardiac remodeling and diastolic dysfunction. The aim of this study was to assess and compare maternal left ventricular structure and diastolic function and levels of brain natriuretic peptide (BNP) in women with early-onset (< 34 weeks' gestation) vs those with late-onset (≥ 34 weeks' gestation) PE. This was a prospective, cross-sectional, observational study of 30 women with early-onset PE, 32 with late-onset PE and 23 normotensive controls. Maternal cardiac structure and diastolic function were assessed by echocardiography and plasma levels of BNP were measured by enzyme immunoassay. Early- and late-onset PE were associated with increased left ventricular mass index and relative wall thickness compared with normotensive controls. In women with early-onset PE, the prevalence of concentric hypertrophy (40%) and diastolic dysfunction (23%) was also significantly higher (both P < 0.05) compared with women with late-onset PE (16% for both). Maternal serum BNP levels were significantly higher (P < 0.05) in women with early-onset PE and correlated with relative wall thickness and left ventricular mass index. Early-onset PE is associated with more severe cardiac impairment than is late-onset PE, as evidenced by an increased prevalence of concentric hypertrophy, diastolic dysfunction and higher levels of BNP. These findings suggest that early-onset PE causes greater myocardial damage, increasing the risk of both peripartum and postpartum cardiovascular morbidity. Although these cardiovascular effects are easily identified by echocardiographic parameters and measuring BNP, further studies are needed to assess their clinical utility. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

  8. Early Onset Marfan Syndrome: Atypical Clinical Presentation of Two Cases

    Directory of Open Access Journals (Sweden)

    Ozyurt Abdullah

    2015-06-01

    Full Text Available Early onset Marfan Syndrome (eoMFS is a rare, severe form of Marfan Syndrome (MFS. The disease has a poor prognosis and most patients present with resistance to heart failure treatment during the newborn period. This report presents two cases of eoMFS with similar clinical features diagnosed in the newborn period and who died at an early age due to the complications related to the involvement of the cardiovascular system.

  9. Early-onset Major Depressive Disorder in men is associated with childlessness.

    Science.gov (United States)

    Yates, William R; Meller, William H; Lund, Brian C; Thurber, Steve; Grambsch, Patricia L

    2010-07-01

    The self-reported number of children was compared for men and women from the National Epidemiologic Survey of Alcoholism and Related Conditions Survey (NESARC). Subjects with a diagnosis of major depressive disorder or bipolar disorder were compared to those without an axis I disorder. The effect of age, gender, marriage and diagnostic status on number of children was completed using multivariate analyses. Men with a history of major depressive disorder but not bipolar disorder reported higher rates of childlessness and lower mean number of children. This reduced number of children was related to an early age of onset of MDD. Thirty percent of men with an age of onset of MDD before 22 were childless compared to only 18.9% of men without an axis I disorder (Odds ratio=1.82, 95% CI=1.45-2.27). No effect of mood disorder on number of children was found in women with major depression or bipolar disorder. This study suggests that an early age of onset of major depressive disorder contributes to childlessness in men.

  10. Early Onset Childhood Obesity and Risk of Metabolic Syndrome

    Centers for Disease Control (CDC) Podcasts

    This podcast features Lorena Pacheco, a doctoral student at the University of California San Diego and one of the winners of PCD's 2017 Student Research Paper Contest. Lorena answers questions about her winning research, which focuses on the relationship between early onset obesity as a risk factor for increased metabolic syndrome in Chilean children.

  11. Depression as a modifiable factor to decrease the risk of dementia

    Science.gov (United States)

    Almeida, O P; Hankey, G J; Yeap, B B; Golledge, J; Flicker, L

    2017-01-01

    Depression is an accepted risk factor for dementia, but it is unclear if this relationship is causal. This study investigated whether dementia associated with depression decreases with antidepressant use and is independent of the time between exposure to depression and the onset of dementia. We completed a 14-year longitudinal study of 4922 cognitively healthy men aged 71–89 years, and collected information about history of past depression, current depression and severity of depressive symptoms. Other measures included use of antidepressants, age, education, smoking and history of diabetes, hypertension, coronary heart disease, and stroke. The onset of dementia and death during follow-up was ascertained via the Western Australian Data Linkage System. A total of 682 men had past (n=388) or current (n=294) depression. During 8.9 years follow-up, 903 (18.3%) developed dementia and 1884 (38.3%) died free of dementia. The sub-hazard ratios (SHRs) of dementia for men with past and current depression were 1.3 (95% confidence interval (CI)=1.0, 1.6) and 1.5 (95% CI=1.2, 2.0). The use of antidepressants did not decrease this risk. Compared to men with no symptoms, the SHRs of dementia associated with questionable, mild-to-moderate and severe depressive symptoms were 1.2 (95% CI=1.0, 1.4), 1.7 (95% CI=1.4, 2.2) and 2.1 (95% CI=1.4, 3.2), respectively. The association between depression and dementia was only apparent during the initial 5 years of follow-up. Older men with history of depression are at increased risk of developing dementia, but depression is more likely to be a marker of incipient dementia than a truly modifiable risk factor. PMID:28463236

  12. Early Onset Substance Use in Adolescents with Depressive, Conduct, and Comorbid Symptoms

    Science.gov (United States)

    Stone, Andrea L.; Vander Stoep, Ann; McCauley, Elizabeth

    2016-01-01

    This study investigates whether co-occurring depressive and conduct symptoms in early adolescence are associated with an elevated occurrence of early onset substance. Five hundred twenty-one sixth graders were assessed for depressive symptoms and conduct problems and underwent five substance use assessments during middle school. Logistic…

  13. Hippocampal sclerosis dementia: An amnesic variant of frontotemporal degeneration

    Directory of Open Access Journals (Sweden)

    Chiadi U. Onyike

    Full Text Available ABSTRACT Objective: To describe characteristics of hippocampal sclerosis dementia. Methods: Convenience sample of Hippocampal sclerosis dementia (HSD recruited from the Johns Hopkins University Brain Resource Center. Twenty-four cases with post-mortem pathological diagnosis of hippocampal sclerosis dementia were reviewed for clinical characterization. Results: The cases showed atrophy and neuronal loss localized to the hippocampus, amygdala and entorrhinal cortex. The majority (79.2% had amnesia at illness onset, and many (54.2% showed abnormal conduct and psychiatric disorder. Nearly 42% presented with an amnesic state, and 37.5% presented with amnesia plus abnormal conduct and psychiatric disorder. All eventually developed a behavioral or psychiatric disorder. Disorientation, executive dysfunction, aphasia, agnosia and apraxia were uncommon at onset. Alzheimer disease (AD was the initial clinical diagnosis in 89% and the final clinical diagnosis in 75%. Diagnosis of frontotemporal dementia (FTD was uncommon (seen in 8%. Conclusion: HSD shows pathological characteristics of FTD and clinical features that mimic AD and overlap with FTD. The findings, placed in the context of earlier work, support the proposition that HSD belongs to the FTD family, where it may be identified as an amnesic variant.

  14. Hippocampal sclerosis dementia: an amnesic variant of frontotemporal degeneration

    Science.gov (United States)

    Onyike, Chiadi U.; Pletnikova, Olga; Sloane, Kelly L.; Sullivan, Campbell; Troncoso, Juan C.; Rabins, Peter V.

    2013-01-01

    OBJECTIVE To describe characteristics of hippocampal sclerosis dementia. METHODS Convenience sample of Hippocampal sclerosis dementia (HSD) recruited from the Johns Hopkins University Brain Resource Center. Twenty-four cases with post-mortem pathological diagnosis of hippocampal sclerosis dementia were reviewed for clinical characterization. RESULTS The cases showed atrophy and neuronal loss localized to the hippocampus, amygdala and entorrhinal cortex. The majority (79.2%) had amnesia at illness onset, and many (54.2%) showed abnormal conduct and psychiatric disorder. Nearly 42% presented with an amnesic state, and 37.5% presented with amnesia plus abnormal conduct and psychiatric disorder. All eventually developed a behavioral or psychiatric disorder. Disorientation, executive dysfunction, aphasia, agnosia and apraxia were uncommon at onset. Alzheimer disease (AD) was the initial clinical diagnosis in 89% and the final clinical diagnosis in 75%. Diagnosis of frontotemporal dementia (FTD) was uncommon (seen in 8%). CONCLUSION HSD shows pathological characteristics of FTD and clinical features that mimic AD and overlap with FTD. The findings, placed in the context of earlier work, support the proposition that HSD belongs to the FTD family, where it may be identified as an amnesic variant. PMID:24363834

  15. Analysis of early-onset bloodstream infection due to Escherichia coli infection in premature babies

    OpenAIRE

    Chen, I-Lun; Huang, Hsin-Chun; Wu, Chih-Te; Ou-Yang, Mei-Chen; Chung, Mei-Yung; Chen, Chih-Cheng; Suen, Jau-Ling; Hung, Chih-Hsing

    2017-01-01

    Abstract In early-onset bacteremia among preterm neonates, Escherichia coli (E. coli) is the main pathogen and can cause a high mortality rate. Thus, the predictive factors of mortality and extended-spectrum ?-lactamase (ESBL)-producing E. coli in preterm babies with E. coli early-onset bacteremia were reported. We retrospectively reviewed preterm neonates who had E. coli bacteremia occurring within 3 days after birth between 2004 and 2015. Maternal and perinatal information were collected fr...

  16. Treatment of early AIDS dementia in intravenous drug users : High versus low dose peptide T

    NARCIS (Netherlands)

    Kosten, TR; Rosen, MI; McMahon, TL; Bridge, TP; OMalley, SS; Pearsall, R; OConnor, PG

    1997-01-01

    This placebo-controlled, double blind, cross-over study tested the efficacy of two different doses of Peptide T in the treatment of nine intravenous drug users with early AIDS dementia who were also receiving methadone and AZT. Subjects received Peptide T doses of either 15 or 1.5 mg daily for four

  17. Neuropeptide Y gene polymorphisms confer risk of early-onset atherosclerosis.

    Directory of Open Access Journals (Sweden)

    Svati H Shah

    2009-01-01

    Full Text Available Neuropeptide Y (NPY is a strong candidate gene for coronary artery disease (CAD. We have previously identified genetic linkage to familial CAD in the genomic region of NPY. We performed follow-up genetic, biostatistical, and functional analysis of NPY in early-onset CAD. In familial CAD (GENECARD, N = 420 families, we found increased microsatellite linkage to chromosome 7p14 (OSA LOD = 4.2, p = 0.004 in 97 earliest age-of-onset families. Tagged NPY SNPs demonstrated linkage to CAD of a 6-SNP block (LOD = 1.58-2.72, family-based association of this block with CAD (p = 0.02, and stronger linkage to CAD in the earliest age-of-onset families. Association of this 6-SNP block with CAD was validated in: (a 556 non-familial early-onset CAD cases and 256 controls (OR 1.46-1.65, p = 0.01-0.05, showing stronger association in youngest cases (OR 1.84-2.20, p = 0.0004-0.09; and (b GENECARD probands versus non-familial controls (OR 1.79-2.06, p = 0.003-0.02. A promoter SNP (rs16147 within this 6-SNP block was associated with higher plasma NPY levels (p = 0.04. To assess a causal role of NPY in atherosclerosis, we applied the NPY1-receptor-antagonist BIBP-3226 adventitially to endothelium-denuded carotid arteries of apolipoprotein E-deficient mice; treatment reduced atherosclerotic neointimal area by 50% (p = 0.03. Thus, NPY variants associate with atherosclerosis in two independent datasets (with strong age-of-onset effects and show allele-specific expression with NPY levels, while NPY receptor antagonism reduces atherosclerosis in mice. We conclude that NPY contributes to atherosclerosis pathogenesis.

  18. Maternal serum copeptin concentrations in early- and late-onset pre-eclampsia

    Directory of Open Access Journals (Sweden)

    Abdullah Tuten

    2015-08-01

    Conclusion: Our results suggest that copeptin levels might be useful in the evaluation of the severity of pre-eclampsia. However, copeptin might be involved in early- rather than late-onset pre-eclampsia.

  19. The association of with severe early-onset pre-eclampsia

    African Journals Online (AJOL)

    however also found no differences in APA levels between patients with severe early-onset pre-eclampsia and controls."lO Further, Kilpatrick et a/.'°state that even Branch et a/. 6 found ACAs in only 16% of their patients. In the present study, both ACA and LAC levels were assayed, and all 4 patients had significantly raised ...

  20. Structural brain abnormalities in early onset first-episode psychosis

    DEFF Research Database (Denmark)

    Pagsberg, A K; Baaré, William Frans Christian; Raabjerg Christensen, A M

    2007-01-01

    BACKGROUND: Brain morphometry in children and adolescents with first-episode psychosis offer a unique opportunity for pathogenetic investigations. METHODS: We compared high-resolution 3D T1-weighted magnetic resonance images of the brain in 29 patients (schizophrenia, schizotypal disorder...... that schizophrenia patients (n = 15) had significantly larger lateral ventricles as compared to controls. Duration and dose of antipsychotics correlated negatively with global gray matter volume in minimally medicated patients (n = 18). CONCLUSION: Findings of white matter changes and enlarged lateral ventricles...... already at illness onset in young schizophrenia spectrum patients, suggests aberrant neurodevelopmental processes in the pathogenesis of these disorders. Gray matter volume changes, however, appear not to be a key feature in early onset first-episode psychosis....

  1. Assessing the Clinical Role of Genetic Markers of Early-Onset Prostate Cancer Among High-Risk Men Enrolled in Prostate Cancer Early Detection

    Science.gov (United States)

    Hughes, Lucinda; Zhu, Fang; Ross, Eric; Gross, Laura; Uzzo, Robert G.; Chen, David Y. T.; Viterbo, Rosalia; Rebbeck, Timothy R.; Giri, Veda N.

    2011-01-01

    Background Men with familial prostate cancer (PCA) and African American men are at risk for developing PCA at younger ages. Genetic markers predicting early-onset PCA may provide clinically useful information to guide screening strategies for high-risk men. We evaluated clinical information from six polymorphisms associated with early-onset PCA in a longitudinal cohort of high-risk men enrolled in PCA early detection with significant African American participation. Methods Eligibility criteria include ages 35–69 with a family history of PCA or African American race. Participants undergo screening and biopsy per study criteria. Six markers associated with early-onset PCA (rs2171492 (7q32), rs6983561 (8q24), rs10993994 (10q11), rs4430796 (17q12), rs1799950 (17q21), and rs266849 (19q13)) were genotyped. Cox models were used to evaluate time to PCA diagnosis and PSA prediction for PCA by genotype. Harrell’s concordance index was used to evaluate predictive accuracy for PCA by PSA and genetic markers. Results 460 participants with complete data and ≥1 follow-up visit were included. 56% were African American. Among African American men, rs6983561 genotype was significantly associated with earlier time to PCA diagnosis (p=0.005) and influenced prediction for PCA by the PSA (p<0.001). When combined with PSA, rs6983561 improved predictive accuracy for PCA compared to PSA alone among African American men (PSA= 0.57 vs. PSA+rs6983561=0.75, p=0.03). Conclusions Early-onset marker rs6983561 adds potentially useful clinical information for African American men undergoing PCA risk assessment. Further study is warranted to validate these findings. Impact Genetic markers of early-onset PCA have potential to refine and personalize PCA early detection for high-risk men. PMID:22144497

  2. Early-onset alopecia and amyotrophic lateral sclerosis: a cohort study.

    Science.gov (United States)

    Fondell, Elinor; Fitzgerald, Kathryn C; Falcone, Guido J; O'Reilly, Eilis J; Ascherio, Alberto

    2013-10-01

    A recent meta-analysis of 7 genome-wide association studies on early balding (alopecia) revealed single nucleotide polymorphism variants in the region of the amyotrophic lateral sclerosis (ALS) gene TAR DNA-binding protein 43 (TARDBP/TDP-43). We therefore explored the association of early-onset alopecia and ALS in the Health Professionals Follow-up Study, a large cohort of 51,529 US men. In 1992, the participants (then aged 46-81 years) were asked to report their hair line pattern at age 45 years. During the follow-up period (1992-2008), 42 men were diagnosed with ALS. Of those, 13 had reported no alopecia, 18 had reported moderate alopecia, and 11 had reported extensive alopecia at age 45 years. Those who reported extensive alopecia had an almost 3-fold increased risk of ALS compared with those who reported no alopecia (relative risk = 2.74, 95% confidence interval: 1.23, 6.13). Furthermore, we observed a linear trend of increased risk of ALS with increasing level of balding at age 45 years (Ptrend = 0.02). In conclusion, men with early-onset alopecia seem to have a higher risk of ALS. The mechanisms underlying this association deserve further investigation.

  3. Multiparametric computer-aided differential diagnosis of Alzheimer's disease and frontotemporal dementia using structural and advanced MRI

    Energy Technology Data Exchange (ETDEWEB)

    Bron, Esther E.; Klein, Stefan [Erasmus MC, Biomedical Imaging Group Rotterdam, Departments of Medical Informatics and Radiology and Nuclear Medicine, Office Na2502, P.O. Box 2040, Rotterdam (Netherlands); Smits, Marion; Steketee, Rebecca M.E.; Meijboom, Rozanna [Erasmus MC, Department of Radiology and Nuclear Medicine, Rotterdam (Netherlands); Papma, Janne M.; Swieten, John C. van [Erasmus MC, Department of Neurology, Rotterdam (Netherlands); Groot, Marius de [Erasmus MC, Biomedical Imaging Group Rotterdam, Departments of Medical Informatics and Radiology and Nuclear Medicine, Office Na2502, P.O. Box 2040, Rotterdam (Netherlands); Erasmus MC, Department of Epidemiology, Rotterdam (Netherlands); Niessen, Wiro J. [Erasmus MC, Biomedical Imaging Group Rotterdam, Departments of Medical Informatics and Radiology and Nuclear Medicine, Office Na2502, P.O. Box 2040, Rotterdam (Netherlands); Delft University of Technology, Imaging Physics, Applied Sciences, Delft (Netherlands)

    2017-08-15

    To investigate the added diagnostic value of arterial spin labelling (ASL) and diffusion tensor imaging (DTI) to structural MRI for computer-aided classification of Alzheimer's disease (AD), frontotemporal dementia (FTD), and controls. This retrospective study used MRI data from 24 early-onset AD and 33 early-onset FTD patients and 34 controls (CN). Classification was based on voxel-wise feature maps derived from structural MRI, ASL, and DTI. Support vector machines (SVMs) were trained to classify AD versus CN (AD-CN), FTD-CN, AD-FTD, and AD-FTD-CN (multi-class). Classification performance was assessed by the area under the receiver-operating-characteristic curve (AUC) and accuracy. Using SVM significance maps, we analysed contributions of brain regions. Combining ASL and DTI with structural MRI resulted in higher classification performance for differential diagnosis of AD and FTD (AUC = 84%; p = 0.05) than using structural MRI by itself (AUC = 72%). The performance of ASL and DTI themselves did not improve over structural MRI. The classifications were driven by different brain regions for ASL and DTI than for structural MRI, suggesting complementary information. ASL and DTI are promising additions to structural MRI for classification of early-onset AD, early-onset FTD, and controls, and may improve the computer-aided differential diagnosis on a single-subject level. (orig.)

  4. The Use of Cannabis as a Predictor of Early Onset of Bipolar Disorder and Suicide Attempts

    Directory of Open Access Journals (Sweden)

    Rafaela Torres Portugal Leite

    2015-01-01

    Full Text Available Introduction. Bipolar disorder (BD implies risk of suicide. The age at onset (AAO of BD carries prognostic significance. Substance abuse may precede the onset of BD and cannabis is the most common illicit drug used. The main goal of this study is to review the association of cannabis use as a risk factor for early onset of BD and for suicide attempts. Materials and Methods. PubMed database was searched for articles using key words “bipolar disorder,” “suicide attempts,” “cannabis,” “marijuana,” “early age at onset,” and “early onset.” Results. The following percentages in bipolar patients were found: suicide attempts 3.6–42%; suicide attempts and substance use 5–60%; suicide attempts and cannabis use 15–42%. An early AAO was associated with cannabis misuse. The mean age of the first manic episode in individuals with and without BD and cannabis use disorder (CUD was 19.5 and 25.1 years, respectively. The first depressive episode was at 18.5 and 24.4 years, respectively. Individuals misusing cannabis showed increased risk of suicide. Discussion. Cannabis use is associated with increased risk of suicide attempts and with early AAO. However, the effect of cannabis at the AAO and suicide attempts is not clear.

  5. Pathways to diagnosis: exploring the experiences of problem recognition and obtaining a dementia diagnosis among Anglo-Canadians.

    Science.gov (United States)

    Leung, Karen K; Finlay, Juli; Silvius, James L; Koehn, Sharon; McCleary, Lynn; Cohen, Carole A; Hum, Susan; Garcia, Linda; Dalziel, William; Emerson, Victor F; Pimlott, Nicholas J G; Persaud, Malini; Kozak, Jean; Drummond, Neil

    2011-07-01

    Increasing evidence suggests that early diagnosis and management of dementia-related symptoms may improve the quality of life for patients and their families. However, individuals may wait from 1-3 years from the onset of symptoms before receiving a diagnosis. The objective of this qualitative study was to explore the perceptions and experiences of problem recognition, and the process of obtaining a diagnosis among individuals with early-stage dementia and their primary carers. From 2006-2009, six Anglo-Canadians with dementia and seven of their carers were recruited from the Alzheimer's Society of Calgary to participate in semi-structured interviews. Using an inductive, thematic approach to the analysis, five major themes were identified: becoming aware of memory problems, attributing meanings to symptoms, initiating help-seeking, acknowledging the severity of cognitive changes and finally obtaining a definitive diagnosis. Individuals with dementia reported noticing memory difficulties earlier than their carers. However, initial symptoms were perceived as ambiguous, and were normalised and attributed to concurrent health problems. The diagnostic process was typically characterised by multiple visits and interactions with health professionals, and a diagnosis was obtained as more severe cognitive deficits emerged. Throughout the diagnostic pathway, carers played dynamic roles. Carers initially served as a source of encouragement to seek help, but they eventually became actively involved over concerns about alternative diagnoses and illness management. A better understanding of the pre-diagnosis period, and the complex interactions between people's beliefs and attributions about symptoms, may elucidate some of the barriers as well as strategies to promote a timelier dementia diagnosis. © 2011 Blackwell Publishing Ltd.

  6. Dementia in Qatar

    International Nuclear Information System (INIS)

    Hamad, Ahmad I.; Ibrahim, Mohammed A.; Sulaiti, Essa M.

    2004-01-01

    Dementia is the major public health problem among the elderly in developed countries and a growing problem in the underdeveloped countries. There are no published data on dementia in any of the Arab countries. The aim of this study was to determine the different subtypes of dementia among Qataris. A retrospective and prospective ongoing hospital based study in which all medical records of the patients with diagnosis of dementia seen at the Hamad General Hospital, Doha, Qatar, between June 1997 and June 2003, whether inpatient and outpatient were reviewed. Dementia was defined according to diagnostic and statistical manual (DSM) IV criteria. Those who had dementia were evaluated by a psychologist, psychiatrist, neurologist and a geriatrician. All had brain computerized tomography, magnetic resonance imaging or both and routine blood test. Finally, they were classified into sub-types according to the cause of dementia. One of 300 patients, 134 fulfilled the inclusion criteria, most of them were illiterate, married and non-smokers. Among those dementia sub-types were: Alzheimer disease (AD) 39 (29%), vascular dementia (VaD) 30 (22%), mixed AD and VaD 20 (15%) and Parkinson's disease with dementia due to other medical conditions. Our stidy showed that AD is more prevalent than VaD. It also showed that patients and their families seek medical help late due to to the general belief among the public that forgetfulness and other associated cognitive impairment are part of normal aging process. The emergence of new drugs and advancement in prevention of cerebrovascular diseases make early diagnosis of dementia sub-type important. A community based study to show the real prevalence and incidence of sub-types of dementia is highly indicated. These data are necessory for planning and setting up community services and health care programs for demented patients. (author)

  7. Dementia and sculpture-making: Exploring artistic responses of people with dementia.

    Science.gov (United States)

    Chauhan, Sumita

    2018-01-01

    In its form, sculpture reveals not only the artist's self-expression but also the transformative qualities through which it influences our senses. Frequent interactions with sculpture can provide creative awareness, which in turn leads to a better understanding and appreciation of artistic expressions. This paper examines possible ways in which the creative potential of people with dementia can be explored through meaningful artistic engagement with sculpture-making processes. A study was conducted involving seven participants diagnosed with the early stages of dementia who engaged and experimented with different types of sculpture-making processes, from clay and papier mâché to virtual and digital sculptures. In the collective and collaborative environment of the group sessions, the creative responses of the participants to each process were unique. Each sculpture created by the participants enfolded their self-initiated ideas and stories reflecting the conscious expressions of their presence in a particular time and space. This paper argues that while cognitive impairment may affect the behavioural, visual and perceptual abilities of people with dementia, there is ample evidence to suggest that the viewing and making sculpture may influence the sensory involvement and consequently the imagination and creativity of people with early stage dementia.

  8. EARLY ONSET OF DELINQUENCY AND THE TRAJECTORY OF ALCOHOL-IMPAIRED DRIVING AMONG YOUNG MALES*

    Science.gov (United States)

    Zhang, Lening; Wieczorek, William F.; Welte, John W.

    2011-01-01

    Building upon the literature in developmental and life-course criminology, the present study assesses the possible association of age onset of delinquency with the trajectory of alcohol-impaired driving using data collected from the three waves of the Buffalo Longitudinal Survey of Young Men (BLSYM). It is argued that as a unique form of delinquency, alcohol-impaired driving among adolescents may be better understood in a broad context of adolescent delinquency involvement. The study adopts the general approach for the analysis of early onset of delinquency and criminal careers in developmental and life-course criminology and hypothesizes that early onset of delinquency is associated with a higher growth of alcohol-impaired driving over time among adolescents when age onsets of alcohol-impaired driving, drinking, and drug use are controlled. Our analysis with the HLM growth modeling method provides support for the hypothesis. Respondents who had an early start in delinquency were likely to have a faster growth of alcohol-impaired driving over the three waves of BLSYM, which implies that these respondents were likely to have a longer path of alcohol-impaired driving in their transition to adulthood. The implication of this finding is discussed. PMID:21831528

  9. Autobiographical Memory in Normal Ageing and Dementia

    Directory of Open Access Journals (Sweden)

    Harvey J. Sagar

    1991-01-01

    Full Text Available Autobiographical memories in young and elderly normal subjects are drawn mostly from the recent past but elderly subjects relate a second peak of memories from early adulthood. Memory for remote past public events is relatively preserved in dementia, possibly reflecting integrity of semantic relative to episodic memory. We examined recall of specific, consistent autobiographical episodes in Alzheimer's disease (AD in response to cue words. Patients and control subjects drew most memories from the recent 20 years: episode age related to anterograde memory function but not subject age or dementia. Subjects also related a secondary peak of memories from early adulthood; episode age related to subject age and severity of dementia. The results suggest that preferential recall of memories from early adulthood is based on the salience of retrieval cues, altered by age and dementia, superimposed on a temporal gradient of semantic memory. Further, AD shows behavioural similarity to normal ageing.

  10. Of Energy and Entropy: The Ineluctable Impact of Aging in Old Age Dementia

    Directory of Open Access Journals (Sweden)

    Virginia Boccardi

    2017-12-01

    Full Text Available Alzheimer’s disease (AD represents the most common form of dementia among older age subjects, and despite decades of studies, the underlying mechanisms remain unresolved. The definition of AD has changed over the past 100 years, and while early-onset AD is commonly related to genetic mutations, late-onset AD is more likely due to a gradual accumulation of age-related modifications. “Normal brain aging” and AD may represent different pathways of successful or failed capability to adapt brain structures and cerebral functions. Cellular senescence and age-related changes (ARCs affecting the brain may be considered as biologic manifestations of increasing entropy, a measure of disorder. Late-onset AD may be regarded as the final effect of a reduced energy production, due to exhausted mitochondria, and an increased entropy in the brain. This unique trajectory enables a bioenergetics-centered strategy targeting disease-stage specific profile of brain metabolism for disease prevention and treatment.

  11. Precuneus atrophy in early-onset Alzheimer's disease: a morphometric structural MRI study

    International Nuclear Information System (INIS)

    Karas, Giorgos; Scheltens, Philip; Jones, Bethany; Rombouts, Serge; Schijndel, Ronald van; Klein, Martin; Flier, Wiesje van der; Vrenken, Hugo; Barkhof, Frederik

    2007-01-01

    Alzheimer's disease (AD) usually first presents in elderly patients, but may also develop at an earlier age. Patients with an early age at onset tend to present with complaints other than memory impairment, such as visuospatial problems or apraxia, which may reflect a different distribution of cortical involvement. In this study we set out to investigate whether age at onset in patients with AD determines the pattern of atrophy on cerebral MRI scans. We examined 55 patients with AD over a wide age range and analyzed their 3-D T1-weighted structural MRI scans in standard space using voxel-based morphometry (VBM). Regression analysis was performed to estimate loss of grey matter as a function of age, corrected for mini-mental state examination (MMSE) scores and sex. The VBM analyses identified multiple areas (including the temporal and parietal lobes), showing more atrophy with advancing age. By contrast, a younger age at onset was found to be associated with lower grey matter density in the precuneus. Regionalized volumetric analysis of this region confirmed the existence of disproportionate atrophy in the precuneus in patients with early-onset AD. Application of a multivariate model with precuneus grey matter density as input, showed that precuneal and hippocampal atrophy are independent from each other. Additionally, we found that a smaller precuneus is associated with impaired visuospatial functioning. Our findings support the notion that age at onset modulates the distribution of cortical involvement, and that disproportionate precuneus atrophy is more prominent in patients with a younger age of onset. (orig.)

  12. Is Apolipoprotein E4 an Important Risk Factor for Dementia in Persons with Down Syndrome?

    Science.gov (United States)

    Rohn, Troy T; McCarty, Katie L; Love, Julia E; Head, Elizabeth

    2014-12-08

    Down syndrome is one of the most common genetic causes of intellectual disability and is characterized by a number of behavioral as well as cognitive symptoms. Triplication of all or part of human chromosome 21 has been considered as the main cause of Down syndrome. Due to the location of the amyloid precursor protein on chromosome 21, many of the neuropathological features of early-onset Alzheimer's disease including senile plaques and neurofibrillary tangles are also present in Down syndrome patients who are either demented or nondemented. Significant advances in medical treatment have increased longevity in people with Down syndrome resulting in an increased population that may be subjected to many of the same risk factors as those with Alzheimer's disease. It is well established that harboring one or both apolipoprotein E4 alleles greatly increases the risk for Alzheimer's disease. However, whether apolipoprotein E4 contributes to an earlier onset of dementia or increased mortality in Down syndrome patients is still a matter of debate. The purpose of this mini review is to provide an updated assessment on apolipoprotein E4 status and risk potential of developing dementia and mortality associated with Down syndrome.

  13. Depression and quality of life in monogenic compared to idiopathic, early-onset Parkinson's disease

    DEFF Research Database (Denmark)

    Kasten, Meike; Kertelge, Lena; Tadic, Vera

    2012-01-01

    , and 44% of manifesting carriers of mutations in PD genes, but was rare in the nonmanifesting carriers (7%) and healthy controls (5%). Subjects with Parkinson-associated depression reported fewer feelings of guilt or self-doubt than treated controls, but the occurrence of suicidal ideation was associated......Quality of life (QoL) is decreased in PD and is linked with depression and anxiety. However, little is known about QoL in monogenic PD. Subjects with mutations in PD genes were recruited from ongoing family and genetic studies (manifesting carriers, n = 23; nonmanifesting carriers, n = 19......). For comparison purposes, we included patients with idiopathic PD (IPD; n = 128; early onset, n = 38; late onset, n = 90), healthy controls (n = 127), and data on depressive symptoms of 144 patients with major depression (treated controls). Depression affected 31% of early-onset PD cases, 21% of late-onset cases...

  14. Is an Early Age at Illness Onset in Schizophrenia Associated With Increased Genetic Susceptibility?

    DEFF Research Database (Denmark)

    Hilker, Rikke; Helenius, Dorte; Fagerlund, Birgitte

    2017-01-01

    with schizophrenia spectrum) and a subsample of N = 448 (affected with schizophrenia). Survival analysis was applied to investigate the effect of age at illness onset. Findings We found that early age at illness onset compared to later onset in the first diagnosed twin can be considered a major risk factor......Background Early age at illness onset has been viewed as an important liability marker for schizophrenia, which may be associated with an increased genetic vulnerability. A twin approach can be valuable, because it allows for the investigation of specific illness markers in individuals...... with a shared genetic background. Methods We linked nationwide registers to identify a cohort of twin pairs born in Denmark from 1951 to 2000 (N = 31,524 pairs), where one or both twins had a diagnosis in the schizophrenia spectrum. We defined two groups consisting of; N = 788 twin pairs (affected...

  15. At, with and beyond risk: expectations of living with the possibility of future dementia.

    Science.gov (United States)

    Milne, Richard; Diaz, Ana; Badger, Shirlene; Bunnik, Eline; Fauria, Karine; Wells, Katie

    2018-04-16

    Biomedical research aimed at the development of therapies for chronic and late-onset conditions increasingly concentrates on the early treatment of symptom-less disease. This broad trend is evidenced in prominent shifts in contemporary dementia research. Revised diagnostic criteria and new approaches to clinical trials propose a focus on earlier stages of disease and prompt concerns about the implications of communicating test results associated with the risk of developing dementia when no effective treatments are available. This article examines expectations of the implications of learning test results related to dementia risk, based on focus group research conducted in the UK and Spain. It points to the extended social and temporal aspects of the dementia risk experience. Three key dimensions of this risk experience are elaborated: living 'at risk', represented in efforts to reduce risk and plan for the future; 'with risk', through vigilance towards cognitive health and earlier or prolonged contact with healthcare services; and finally, 'beyond risk' through a cessation of the self in its current social, legal and financial form. A virtual abstract of this paper can be viewed at: https://www.youtube.com/channel/UC_979cmCmR9rLrKuD7z0ycA. © 2018 Foundation for the Sociology of Health & Illness.

  16. Early Onset Bipolar Spectrum Disorder: Psychopharmacological, Psychological, and Educational Management

    Science.gov (United States)

    McIntosh, David E.; Trotter, Jeffrey S.

    2006-01-01

    Although published research continues to advocate medication as the first line of treatment for early onset bipolar spectrum disorder (EOBSD; N. Lofthouse & M.A. Fristad, 2004), preliminary research demonstrating the utility of cognitive, cognitive-behavioral, and psychoeducational therapies is promising. It appears as if future treatment of EOBSD…

  17. Effects of problem solving therapy on mental health outcomes in family caregivers of persons with a new diagnosis of mild cognitive impairment or early dementia: a randomized controlled trial.

    Science.gov (United States)

    Garand, Linda; Rinaldo, Donna E; Alberth, Mary M; Delany, Jill; Beasock, Stacey L; Lopez, Oscar L; Reynolds, Charles F; Dew, Mary Amanda

    2014-08-01

    Interventions directed at the mental health of family dementia caregivers may have limited impact when focused on caregivers who have provided care for years and report high burden levels. We sought to evaluate the mental health effects of problem-solving therapy (PST), designed for caregivers of individuals with a recent diagnosis of Mild Cognitive Impairment (MCI) or early dementia. Seventy-three (43 MCI and 30 early dementia) family caregivers were randomly assigned to receive PST or a comparison condition (nutritional education). Depression, anxiety, and problem-solving orientation were assessed at baseline and at 1, 3, 6, and 12 months post intervention. In general, the PST caregiver intervention was feasible and acceptable to family caregivers of older adults with a new cognitive diagnosis. Relative to nutritional education, PST led to significantly reduced depression symptoms, particularly among early dementia caregivers. PST also lowered caregivers' anxiety levels, and led to lessening of negative problem orientation. Enhanced problem-solving skills, learned early after a loved one's cognitive diagnosis (especially dementia), results in positive mental health outcomes among new family caregivers. Copyright © 2014 American Association for Geriatric Psychiatry. Published by Elsevier Inc. All rights reserved.

  18. Psychological differences between early- and late-onset psoriasis: a study of personality traits, anxiety and depression in psoriasis.

    Science.gov (United States)

    Remröd, C; Sjöström, K; Svensson, A

    2013-08-01

    Onset of psoriasis may occur at any age. Early negative experiences often influence personality development, and may lead to physical disease, anxiety and depression in adulthood. Knowledge about onset of psoriasis and psychopathology is limited. To examine whether patients with early-onset psoriasis differ psychologically from patients with late-onset psoriasis, regarding personality traits, anxiety and depression. A descriptive cross-sectional study was conducted among 101 consecutively recruited outpatients with psoriasis. A psychosocial interview was performed followed by self-assessment of validated questionnaires: Swedish Universities Scales of Personality (SSP), Spielberger State-Trait Anxiety Inventory and Beck Depression Inventory. Psoriasis severity was assessed by the Psoriasis Area and Severity Index. Patients with early-onset psoriasis (age personality traits: SSP-embitterment, -trait irritability, -mistrust and -verbal trait aggression. Our results indicate that early detection of psychological vulnerability when treating children and adolescents with psoriasis seems to be of great importance. Traits of psychological vulnerability and pessimistic personality traits were found to be significantly associated with the early onset of psoriasis, but not with disease duration in this study. These traits may be seen as a consequence of psoriasis, and/or as individual traits modulating and impairing clinical course and efforts to cope with psoriasis. © 2013 The Authors BJD © 2013 British Association of Dermatologists.

  19. An intergenerational reminiscence programme for older adults with early dementia and youth volunteers: values and challenges.

    Science.gov (United States)

    Chung, Jenny C C

    2009-06-01

    To examine the values of a reminiscence programme, adopting an intergenerational approach, on older persons with early dementia and youth volunteers. A pre- and post- one group design was adopted. Forty-nine elderly participants with early dementia and 117 youth volunteers participated in the study. Each elderly participant was assigned to two youth participants. This dyad group participated in a 12-session reminiscence programme. The youth participants acted as facilitators to prompt the elderly participants to share and discuss past events and experiences, and to support them to fabricate a personalized life-story book. An occupational therapist provided ongoing support and monitoring. The elderly participants were evaluated by the Chinese version of Mini-mental State Examination, Quality of Life-Alzheimer's Disease (QoL-AD), and Chinese version of Geriatric Depression Scale (CGDS) before and after the programme. Dementia Quiz (DQ), Rosenberg Self-Esteem Scale and a 20-item feedback questionnaire on the programme were used to evaluate the youth participants. Significant pre- and postprogramme differences were found for QoL-AD (mean change = -1.91; 95% CI = -3.18, -0.64) and CGDS (mean change = 1.86; 95% CI = 0.92, 2.80) among the elderly participants, and for DQ (mean change = -1.14; 95% CI = -2.11, -0.17) among the youth participants. Volunteers also showed positive appreciation of older persons and opined that this community service provided them an opportunity to reflect on their relationship with elderly relatives. Some volunteers, however, commented the heavy workload of the reminiscence programme. The intergenerational reminiscence programme suggests mutually beneficial values for both groups of participants. Whilst it is feasible to involve trained volunteers in the implementation of dementia-related programmes, it is essential that they are adequately trained and that ongoing support and monitoring are provided.

  20. Early-onset restrictive eating disturbances in primary school boys and girls.

    Science.gov (United States)

    Kurz, Susanne; van Dyck, Zoé; Dremmel, Daniela; Munsch, Simone; Hilbert, Anja

    2015-07-01

    This study sought to determine the distribution of early-onset restrictive eating disturbances characteristic of the new DSM-5 diagnosis, avoidant/restrictive food intake disorder (ARFID) in middle childhood, as well as to evaluate the screening instrument, Eating Disturbances in Youth-Questionnaire (EDY-Q). A total of 1,444 8- to 13-year-old children were screened in regular schools (3rd to 6th grade) in Switzerland using the self-report measure EDY-Q, consisting of 12 items based on the DSM-5 criteria for ARFID. 46 children (3.2%) reported features of ARFID in the self-rating. Group differences were found for body mass index, with underweight children reporting features of ARFID more often than normal and overweight children. The EDY-Q revealed good psychometric properties, including adequate discriminant and convergent validity. Early-onset restrictive eating disturbances are commonly reported in middle childhood. Because of possible negative short- and long-term impact, early detection is essential. Further studies with structured interviews and parent reports are needed to confirm this study's findings.

  1. A new self-rating questionnaire for dementia screening

    Directory of Open Access Journals (Sweden)

    Jin WANG

    2015-07-01

    Full Text Available Background The AD8 plays an important role in the early diagnosis of dementia. However, because of cultural and language difference, it is difficult for Chinese subjects to understand and answer questions in AD8. This paper aims to make a new dementia self-rating questionnaire for Chinese people based on the AD8, and to determine its value for dementia screening.  Methods According to early symptoms of dementia and life style of old Chinese people, a dementia self-rating questionnaire was made based on the AD8. The new questionnaire includes 10 questions, and can be finished in 3 min. The reliability and validity was validated by a questionnaire survey in senior citizens older than 50 years in urban Xi'an. All patients were screened by Mini-Mental State Examination (MMSE and dementia was diagnosed according to Diagnostic and Statistical Manual of Mental Disorders Forth Edition (DSM-Ⅳ criteria.  Results A total of 620 patients finished the new questionnaire, and among them 17 patients (2.74% were diagnosed as dementia. The score of each question in the questionnaire was positively correlated with the total score (rs = 0.300-0.709; P = 0.000, for all. The Cronbach α was 0.795, indicating that the questionnaire got good internal consistency reliability. Two principal components were extracted, and the cumulative variance contribution ratio was 49.771%. Factor loading of each subitem was > 0.500, indicating a good construct validity. According to receiver operating characteristic (ROC curve, the critical value was 2, with the sensitivity 94.10% and specificity 82.10%. Youden index was 0.762.  Conclusions The new dementia self-rating questionnaire can detect dementia patients sensitively and correctly, and is very useful for early screening of dementia. DOI: 10.3969/j.issn.1672-6731.2015.07.009

  2. General Practitioner's Attitudes and Confidence in Managing Patients with Dementia in Singapore.

    Science.gov (United States)

    Subramaniam, Mythily; Ong, Hui Lin; Abdin, Edimansyah; Chua, Boon Yiang; Shafie, Saleha; Siva Kumar, Fiona Devi; Foo, Sophia; Ng, Li Ling; Lum, Alvin; Vaingankar, Janhavi A; Chong, Siow Ann

    2018-03-01

    The number of people living with dementia is increasing globally as a result of an ageing population. General practitioners (GPs), as the front-line care providers in communities, are important stakeholders in the system of care for people with dementia. This commentary describes a study conducted to understand GPs' attitudes and self-perceived competencies when dealing with patients with dementia and their caregivers in Singapore. A set of study information sheet and survey questionnaires were mailed to selected GP clinics in Singapore. The survey, comprising the "GP Attitudes and Competencies Towards Dementia" questionnaire, was administered. A total of 400 GPs returned the survey, giving the study a response rate of 52.3%. About 74% of the GPs (n=296) were seeing dementia patients in their clinics. Almost all the GPs strongly agreed that early recognition of dementia served the welfare of the patients (n=385; 96%) and their relatives (n=387; 97%). About half (51.5%) of the respondents strongly agreed or agreed that they felt confident carrying out an early diagnosis of dementia. Factor analysis of questionnaire revealed 4 factors representing "benefits of early diagnosis and treatment of patients with dementia", "confidence in dealing with patients and caregiver of dementia", "negative perceptions towards dementia care" and "training needs". GPs in Singapore held a generally positive attitude towards the need for early dementia diagnosis but were not equally confident or comfortable about making the diagnosis themselves and communicating with and managing patients with dementia in the primary care setting. Dementia education and training should therefore be a critical step in equipping GPs for dementia care in Singapore. Shared care teams could further help build up GPs' knowledge, confidence and comfort in managing patients with dementia.

  3. [The relationship between accommodative accuracy at different near-work distances and early-onset myopia].

    Science.gov (United States)

    Yu, Q W; Zhang, P; Zhou, S B; Hu, Y; Ji, M X; Luo, Y C; You, H L; Yao, Z X

    2016-07-01

    To observe the accommodative accuracy of children with early-onset myopia at different near-work distances, and discuss the relationship between accommodative accuracy and early-onset myopia. This was a case-control study. Thirty-seven emmetropic children, 41 early-onset myopic children without correction, and 39 early-onset myopic children with spectacles, aged 7 to 13 years, were included. Measures of refractive errors and accommodative accuracy at four near-work distances, including 50 cm, 40 cm, 30 cm, and 20 cm, were made using the binocular fusion cross cylinder (FCC) of an automatic phoropter. Most candidates showed accommodative lags, including the children with emmetropia. The ratio of lags in all candidates at different near-work distances was 75.21% (50 cm), 87.18% (40 cm), 92.31% (30 cm), and 98.29% (20 cm), respectively. All accommodative accuracies became worse, and the accommodative lag ratio and values of FCC increased, along with the shortening of the distance. The difference in accommodative accuracy among groups was statistically significant at 30 cm (χ(2)=7.852, P= 0.020) and 20 cm (χ(2)=6.480, P=0.039). The values of FCC among groups were significantly different at 30 cm (F=3.626, P=0.030) and 20 cm (F=3.703, P=0.028), but not at 50 cm and 40 cm (P>0.05). In addition, the FCC values of 30 cm and 20 cm had a statistically significant difference between myopic children without correction [(1.25±0.44) D and (1.76±0.43) D] and emmetropic children [(0.95±0.52) D and (1.41±0.58) D] (P=0.012, 0.008). The correlation between diopters of myopia and accommodative accuracy at different nearwork distances was not statistically significant (P>0.05). However, the correlation between diopters of myopia and the accommodative lag value (FCC) at 20 cm was statistically significant (r=0.246, P=0.028). The closer the near-work distance is, the worse the accommodative accuracy is. This is more significant in early-onset myopia, especially myopia without

  4. Alcohol intake and early-onset basal cell carcinoma in a case-control study.

    Science.gov (United States)

    Zhang, Y; Ferrucci, L M; Cartmel, B; Molinaro, A M; Leffell, D J; Bale, A E; Mayne, S T

    2014-12-01

    Previous epidemiological studies of overall alcohol intake and basal cell carcinoma (BCC) are inconsistent, with some evidence for differences by type of alcoholic beverage. While alcohol may enhance the carcinogenicity of ultraviolet (UV) radiation, this has not been evaluated in existing epidemiological studies. To evaluate alcohol intake in relation to early-onset BCC, and explore potential interactions with UV exposure. Basal cell carcinoma cases (n = 380) and controls with benign skin conditions (n = 390) under 40 years of age were identified through Yale Dermatopathology. Participants provided information on lifetime alcohol intake, including type of beverage, during an in-person interview. Self-reported data on indoor tanning and outdoor sunbathing were used to categorize UV exposure. We calculated odds ratios (OR) and 95% confidence intervals (CIs) using unconditional multivariate logistic regression in the full sample and in women only. There was no statistically significant association between lifetime alcohol intake and early-onset BCC overall [above median intake vs. no regular alcohol intake (OR 1·10, 95% CI 0·69-1·73)] or in women only (OR 1·21, 95% CI 0·73-2·01). Similarly, intake of red wine, white wine, beer or spirits and mixed drinks was not associated with early-onset BCC. In exploratory analyses, we saw limited evidence for an interaction (P(interaction) = 0·003), with highest risk for high alcohol and high UV exposures, especially in women, but subgroup risk estimates had wide and overlapping CIs. Overall, we did not observe any clear association between lifetime alcohol intake and early-onset BCC. © 2014 British Association of Dermatologists.

  5. Two-Year Diagnostic Stability in Early-Onset First-Episode Psychosis

    Science.gov (United States)

    Castro-Fornieles, Josefina; Baeza, Immaculada; de la Serna, Elena; Gonzalez-Pinto, Ana; Parellada, Mara; Graell, Montserrat; Moreno, Dolores; Otero, Soraya; Arango, Celso

    2011-01-01

    Background: Only one study has used a prospective method to analyze the diagnostic stability of first psychotic episodes in children and adolescents. The Child and Adolescent First-Episode Psychosis Study (CAFEPS) is a 2-year, prospective longitudinal study of early-onset first episodes of psychosis (EO-FEP). Aim: To describe diagnostic stability…

  6. A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5.

    Science.gov (United States)

    Saitsu, Hirotomo; Osaka, Hitoshi; Nishiyama, Kiyomi; Tsurusaki, Yoshinori; Doi, Hiroshi; Miyake, Noriko; Matsumoto, Naomichi

    2012-05-01

    Recent studies have shown that aberrations of CDKL5 in female patients cause early-onset intractable seizures, severe developmental delay or regression, and Rett syndrome-like features. We report on a Japanese girl with early-onset epileptic encephalopathy, hypotonia, developmental regression, and Rett syndrome-like features. The patient showed generalized tonic seizures, and later, massive myoclonus induced by phone and light stimuli. Brain magnetic resonance imaging showed no structural brain anomalies but cerebral atrophy. Electroencephalogram showed frontal dominant diffuse poly spikes and waves. Through copy number analysis by genomic microarray, we found a microdeletion at Xp22.13. A de novo 137-kb deletion, involving exons 5-21 of CDKL5, RS1, and part of PPEF1 gene, was confirmed by quantitative PCR and breakpoint specific PCR analyses. Our report suggests that the clinical features associated with CDKL5 deletions could be implicated in Japanese patients, and that genetic testing of CDKL5, including both sequencing and deletion analyses, should be considered in girls with early-onset epileptic encephalopathy and RTT-like features. Copyright © 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  7. Vasoactive agents for the prediction of early- and late-onset preeclampsia in a high-risk cohort

    Science.gov (United States)

    2013-01-01

    Background To evaluate the soluble fms-like tyrosine kinase-1 (sFlt-1), placental growth factor (PlGF), and sFlt-1/PlGF ratio for the prediction of early- and late-onset preeclampsia in a high-risk cohort. Methods We studied serial serum samples collected prospectively at 12 + 0 - 14 + 0, 18 + 0 - 20 + 0, and 26 + 0 - 28 + 0 weeks + days of gestation in 6 women who developed early-onset preeclampsia (before 34 weeks of gestation) and in 21 women who developed late-onset preeclampsia (after 34 weeks of gestation) with automated ElecSys 2010 immunoanalyzer (Roche Diagnostics, Germany). Twenty-six high-risk women and 53 women without risk factors with normal pregnancies served as controls. Results Serum PlGF concentrations were lower at 18 + 0 to 20 + 0, and 26 + 0 to 28 + 0 weeks of gestation in women who developed early-onset preeclampsia compared to women who developed late-onset preeclampsia and to controls (p preeclampsia (AUC 100.0%, p = 0.0007, 95% CI 100–100). Amongst women with late-onset preeclampsia, those who developed severe form of the disease (N = 8) had significantly higher serum sFlt-1 concentrations at all three timepoints (p = 0.004, p = 0.006, and p = 0.003, respectively) compared to women with non-severe form (N = 13). Conclusions Low serum PlGF concentration predicts early-onset preeclampsia from the second trimester and elevated serum sFlt-1/PlGF ratio from 26 to 28 weeks of gestation. Elevated serum sFlt-1 concentration in the first trimester in women who later develop late-onset, severe preeclampsia may suggest different etiology compared to the late-onset non-severe form of the disease. PMID:23663420

  8. Caregiver burden in atypical dementias: comparing frontotemporal dementia, Creutzfeldt-Jakob disease, and Alzheimer's disease.

    Science.gov (United States)

    Uflacker, Alice; Edmondson, Mary C; Onyike, Chiadi U; Appleby, Brian S

    2016-02-01

    Caregiver burden is a significant issue in the treatment of dementia and a known contributor to institutionalization of patients with dementia. Published data have documented increased caregiver burden in behavioral variant frontotemporal dementia (bvFTD) compared to Alzheimer's disease (AD). Another atypical dementia with high-perceived caregiver burden is sporadic Creutzfeldt-Jakob disease (sCJD), but no formal studies have assessed this perception. The aim of this study was to compare caregiver burden across atypical dementia etiologies. 76 adults with atypical dementia (young-onset AD [YOAD], bvFTD, language variant FTD [lvFTD], and sCJD) were administered an abbreviated version of the Zarit Burden Interview (ZBI), Neuropsychiatric Inventory (NPI-Q), and other assessment instruments during a five-year time period at Johns Hopkins Hospital (JHH). A Cox regression model examined differences between disease categories that impact mean ZBI scores. Mean ZBI scores were significantly different between dementia etiologies, with bvFTD and sCJD having the highest caregiver burden (p = 0.026). Mean NPI-Q caregiver distress scores were highest in bvFTD and sCJD (p = 0.002), with sCJD and bvFTD also having the highest number of endorsed symptom domains (p = 0.012). On regression analyses, an interactive variable combining final diagnosis category and NPI-Q total severity score demonstrated statistically significant differences in mean ZBI scores for sCJD and bvFTD. This study demonstrates that bvFTD and sCJD have increased levels of caregiver burden, NPI-Q caregiver distress, total severity scores, and number of endorsed symptom domains. These results suggest that higher caregiver burden in bvFTD and sCJD are disease specific and possibly related to neuropsychiatric symptoms.

  9. Early Onset of Drug and Polysubstance Use as Predictors of Injection Drug Use Among Adult Drug Users

    Science.gov (United States)

    Trenz, Rebecca C.; Scherer, Michael; Harrell, Paul; Zur, Julia; Sinha, Ashish; Latimer, William

    2012-01-01

    Early onset of alcohol, marijuana, and cigarette use is an indicator of later substance use problems in adulthood such as alcohol or other drug dependence. This paper seeks to address the association between early onset alcohol, marijuana, cigarette, and polysubstance use with injection drug use among recent illicit drug users. The current study used baseline data from the Baltimore site of the NEURO-HIV Epidemiologic Study, an investigation of neuropsychological and social-behavioral risk factors of HIV, hepatitis A, hepatitis B, and Hepatitis C among both injection and non-injection drug users in Baltimore Maryland. The present study used a subset (N = 651) of the larger parent study that identified as White or Black, and reported any drug use in the past 6 months. In the full sample slightly more than half (52.5%) of study participants were IDUs. IDUs differed from non-IDUs on age of initiation for cigarettes, marijuana, and alcohol, with IDUs initiating the use of all three substances significantly earlier than non-IDUs. IDUs also had significantly greater proportions of early onset of alcohol (χ2 = 19.71, p < .01), cigarette (χ2 = 11.05, p < .01), marijuana (χ2 = 10.83, p < .01), and polysubstance use (χ2 = 23.48, p < .01) than non-IDUs. After adjusting for age, gender, and race/ethnicity, only participants identified as early onset alcohol users (AOR = 1.47, 95% CI: 1.00-2.18) and early onset polysubstance users (AOR = 1.62, 95% CI: 1.10-2.38) were more likely to have IDU status than those who reported initiating substance use later. IDU status was then stratified by race/ethnicity. After controlling for age and gender, only early polysubstance use was a significant predictor of IDU status for Whites (AOR = 2.06, 95% CI: 1.07-3.93). Consistent with literature on early substance initiation and later illicit substance use, early onset alcohol and polysubstance use is an important risk factor for IDU in adulthood. PMID:22172686

  10. The role of SLC2A1 in early onset and childhood absence epilepsies

    DEFF Research Database (Denmark)

    Muhle, Hiltrud; Helbig, Ingo; Frøslev, Tobias Guldberg

    2013-01-01

    Early Onset Absence Epilepsy constitutes an Idiopathic Generalized Epilepsy with absences starting before the age of four years. Mutations in SLC2A1, encoding the glucose transporter, account for approximately 10% of EOAE cases. The role of SLC2A1 mutations in absence epilepsies with a later onset...

  11. Differences in diagnostic subtypes among patients with late and early onset of a single depressive episode

    DEFF Research Database (Denmark)

    Kessing, Lars Vedel

    2006-01-01

    OBJECTIVE: It is unclear whether patients with late onset and patients with early onset present with different subtypes of depression. The aim of the study was to compare the prevalence of subtypes of ICD-10 single depressive episodes for patients with late onset (age >65 years) and patient...... with early onset (age single depressive episode in a period from 1994-2002 at the end of the first outpatient treatment or at the first discharge from...... psychiatric hospitalisation ever in Denmark were identified in a nationwide register. RESULTS: In total, 18.192 patients were given a diagnosis of a single depressive episode at the first outpatient contact and 8.396 patients were given a diagnosis of a single depressive episode at the first psychiatric...

  12. Depression as a risk factor for dementia and mild cognitive impairment: a meta-analysis of longitudinal studies.

    Science.gov (United States)

    Gao, Yuan; Huang, Changquan; Zhao, Kexiang; Ma, Louyan; Qiu, Xuan; Zhang, Lei; Xiu, Yun; Chen, Lin; Lu, Wei; Huang, Chunxia; Tang, Yong; Xiao, Qian

    2013-05-01

    This study examined whether depression was a risk factor for onset of dementia including Alzheimer's disease (AD), vascular dementia (VD) and any dementia, and mild cognitive impairment (MCI) by using a quantitative meta-analysis of longitudinal studies. EMBASE and MEDLINE were searched for articles published up to February 2011. All studies that examined the relationship between depression and the onset of dementia or MCI were included. Pooled relative risk was calculated using fixed-effects models. Twelve studies met our inclusion criteria for this meta-analysis. All subjects were without dementia or MCI at baseline. Four, two, five, and four studies compared the incidence of AD, VD, any dementia, and MCI between subjects with or without depression, respectively. After pooling all the studies, subjects with depression had higher incidence of AD (relative risk (RR):1.66, 95% confidence interval (CI): 1.29-2.14), VD (RR: 1.89, 95% CI: 1.19-3.01), any dementia (RR: 1.55, 95% CI: 1.31-2.83), and MCI (RR: 1.97, 95% CI: 1.53-2.54) than those without depression. The quantitative meta-analysis showed that depression was a major risk factor for incidence of dementia (including AD, VD, and any dementia) and MCI. Copyright © 2012 John Wiley & Sons, Ltd.

  13. A high degree of LINE-1 hypomethylation is a unique feature of early-onset colorectal cancer.

    Directory of Open Access Journals (Sweden)

    Marina Antelo

    Full Text Available Early-onset colorectal cancer (CRC represents a clinically distinct form of CRC that is often associated with a poor prognosis. Methylation levels of genomic repeats such as LINE-1 elements have been recognized as independent factors for increased cancer-related mortality. The methylation status of LINE-1 elements in early-onset CRC has not been analyzed previously.We analyzed 343 CRC tissues and 32 normal colonic mucosa samples, including 2 independent cohorts of CRC diagnosed ≤ 50 years old (n=188, a group of sporadic CRC >50 years (MSS n=89; MSI n=46, and a group of Lynch syndrome CRCs (n=20. Tumor mismatch repair protein expression, microsatellite instability status, LINE-1 and MLH1 methylation, somatic BRAF V600E mutation, and germline MUTYH mutations were evaluated.Mean LINE-1 methylation levels (± SD in the five study groups were early-onset CRC, 56.6% (8.6; sporadic MSI, 67.1% (5.5; sporadic MSS, 65.1% (6.3; Lynch syndrome, 66.3% (4.5 and normal mucosa, 76.5% (1.5. Early-onset CRC had significantly lower LINE-1 methylation than any other group (p<0.0001. Compared to patients with <65% LINE-1 methylation in tumors, those with ≥ 65% LINE-1 methylation had significantly better overall survival (p=0.026, log rank test.LINE-1 hypomethylation constitutes a potentially important feature of early-onset CRC, and suggests a distinct molecular subtype. Further studies are needed to assess the potential of LINE-1 methylation status as a prognostic biomarker for young people with CRC.

  14. Cuba's Strategy for Alzheimer Disease and Dementia Syndromes.

    Science.gov (United States)

    Bosch-Bayard, Rodolfo I; Llibre-Rodríguez, Juan J; Fernández-Seco, Alberto; Borrego-Calzadilla, Carmen; Carrasco-García, Mayra R; Zayas-Llerena, Tania; Moreno-Carbonell, Carmen R; Reymond-Vasconcelos, Ana G

    2016-10-01

    Dementia is a great challenge to public health in Cuba due to its impact on society and families. Cuba's National Intervention Strategy for Alzheimer Disease and Dementia Syndromes is designed to address this challenge. The Strategy includes working guidelines for primary and secondary care, education about rights of people with cognitive impairment, professional development, research, and health promotion and dementia prevention. An associated action plan, focused on primary care, includes proposals for creation of memory clinics, day centers and comprehensive rehabilitation services for cognitive stimulation. Short-term measures proposed include increasing early detection; creating a dementia morbidity and mortality registry; promoting professional training; providing support for families; and promoting basic and clinical research on dementia. Medium-term proposals aim to reduce dementia incidence and mortality by controlling risk factors and promoting healthy lifestyles, offering new treatment options and optimizing early detection. A set of indicators has been developed to evaluate strategy implementation. With this strategy, Cuba joins the small number of developing countries that have responded to WHO's call to improve care for patients with dementia and alleviate its impact on society and families. KEYWORDS Dementia, Alzheimer disease, aging, national health programs, social stigma, primary prevention, health promotion, civil rights, Cuba.

  15. Childhood abuse and late-life depression: Mediating effects of psychosocial factors for early- and late-onset depression.

    Science.gov (United States)

    Wielaard, Ilse; Hoyer, Mathijs; Rhebergen, Didi; Stek, Max L; Comijs, Hannie C

    2018-03-01

    Childhood abuse makes people vulnerable to developing depression, even in late life. Psychosocial factors that are common in late life, such as loneliness or lack of a partner, may explain this association. Our aim was to investigate whether the association between childhood abuse and depression in older adults can be explained by psychosocial factors. Cross-sectional data were derived from the Netherlands Study of Depression in Older Persons (aged 60-93), including 132 without lifetime depression, 242 persons with an early-onset depression (Childhood abuse (yes/no) and a frequency-based childhood abuse index were included. Multinomial regression and multivariable mediation analyses were used to examine the association between childhood abuse and the onset of depression, and the influence of loneliness, social network, and partner status. Multinomial regression analyses showed a significant association between childhood abuse and the childhood abuse index with early- and late-onset depression. Multivariable mediation analyses showed that the association between childhood abuse and early-onset depression was partly mediated by social network size and loneliness. This was particularly present for emotional neglect and psychological abuse, but not for physical and sexual abuse. No psychosocial mediators were found for the association between childhood abuse and late-onset depression. A smaller social network and feelings of loneliness mediate the association between childhood abuse and early-onset depression in older adults. Our findings show the importance of detecting childhood abuse as well as the age at depression onset and mapping of relevant psychosocial factors in the treatment of late-life depression. Copyright © 2018 John Wiley & Sons, Ltd.

  16. Apolipoprotein E Allelic Frequency Altered in Women with Early-onset Breast Cancer

    Directory of Open Access Journals (Sweden)

    Tirtsa Porrata-Doria

    2010-01-01

    Full Text Available Among women, the most prevalent type of cancer is breast cancer, affecting 1 out of every 8 women in the United States; in Puerto Rico, 70 out of every 100,000 will develop some type of breast cancer. Therefore, a better understanding of the potential risk factors for breast cancer could lead to the development of early detection tools. A gene that has been proposed as a risk factor in several populations around the world is Apolipoprotein E (apoE. ApoE functions as a mechanism of transport for lipoproteins and cholesterol throughout the body, with 3 main isoforms present in humans (apoE2, apoE3, and apoE4. Whether or not apoE4 is a risk factor for breast cancer remains controversial. Previous studies have either included test subjects of all ages (20–80 or have focused on late-onset (after age 50 breast cancer; none has concentrated specifically on early-onset (aged 50 and younger breast cancer. The objectives of this study was to examine (in a Puerto Rican population the differences in the relative frequency of occurrence of apoE4 in non-breast cancer versus breast cancer patients and to examine, as well, the potential differences of same in early- versus late-onset patients. We found an increased frequency of apoE4 (odds ratio 2.15 only in early-onset breast cancer survivors, which is similar to the findings of those studies that combined or adjusted for age as well as for an association between apoE4 and decreased tumor size. ApoE is also a potential risk factor for long-term cognitive effects after chemotherapy and affects response to hormone replacement. Our data supports the theory that knowing the apoE genotype of women who are at risk of developing breast cancer may be beneficial, as such knowledge would aid in the prediction of tumor size and the development of treatment regimens.

  17. A Novel TTBK2 De Novo Mutation in a Danish Family with Early-Onset Spinocerebellar Ataxia

    DEFF Research Database (Denmark)

    Lindquist, Suzanne Granhøj; Møller, Lisbeth Birk; Dali, Christine I.

    2017-01-01

    Spinocerebellar ataxia type 11 (SCA11) is rare and has previously been described in four families worldwide. We report a Danish family with onset of symptoms in early childhood and affected family members in two generations. The proband, a Danish female born in 1968, and family members were...... examined. Exome sequencing was performed and a “movement disorders” gene panel consisting of approximately 200 genes was used for filtering, while Sanger sequencing was used for subsequent testing for the mutation in the family. Onset of symptoms in affected family members was in early childhood. A novel...... delineates the phenotypic spectrum of the rare SCA11 disease. In contrast to previously reported cases, onset of symptoms was in early childhood and the mutation was de novo in the proband....

  18. Radiologic diagnostics of dementia

    International Nuclear Information System (INIS)

    Essig, M.; Schoenberg, S.O.

    2003-01-01

    Dementia is one of the most common diseases in the elderly population and is getting more and more important with the ageing of the population. A radiologic structural examination with CT or MRI is meanwhile a standard procedure in the diagnostic work up of patients with dementia syndrome. Radiology enables an early diagnosis and a differential diagnosis between different causes of dementia. Because structural changes occur only late in the disease process, a more detailed structural analysis using volumetric techniques or the use of functional imaging techniques is mandatory. These days, structural imaging uses MRI which enables to detect early atrophic changes at the medial temporal lobe with focus on the amygdala hippocampal complex. These changes are also present in the normal ageing process. In patients with Alzheimer's disease, however, they are more rapid and more pronounced. The use of functional imaging methods such as perfusion MRI, diffusion MRI or fMRI allow new insights into the pathophysiologic changes of dementia. The article gives an overview of the current status of structural imaging and an outlook into the potential of functional imaging methods. Detailed results of structural and functional imaging are presented in other articles of this issue. (orig.) [de

  19. A prospective 20-year longitudinal follow-up of dementia in persons with Down syndrome.

    Science.gov (United States)

    McCarron, M; McCallion, P; Reilly, E; Dunne, P; Carroll, R; Mulryan, N

    2017-09-01

    To examine dementia characteristics, age at onset and associated co-morbidities in persons with Down syndrome. A total of 77 people with Down syndrome aged 35 years and older were followed up from 1996 to 2015. The diagnosis of dementia was established using the modified ICD 10 Criteria and a combination of objective and informant-based tests. Cognitive tests included the Test for Severe Impairment and the Down Syndrome Mental Status Examination; adaptive behaviour was measured using the Daily Living Skills Questionnaire, and data from the Dementia Questionnaire for People with Intellectual Disabilities have been available since 2005. Over the 20-year period, 97.4% (75 of 77) persons developed dementia with a mean age of dementia diagnosis of 55 years (SD = 7.1, median = 56 years). Clinical dementia was associated with cognitive and function decline and seizure activity. Risk for dementia increased from 23% in those aged 50 years to 80% in those aged 65 years and above. There were no differences by level of ID. The previously reported high risk levels for dementia among people with Down syndrome were confirmed in this data as was the relationship with late onset epilepsy. The value of the instruments utilised in tracking decline and helping to confirm diagnosis is further highlighted. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  20. Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.

    Science.gov (United States)

    Gillespie, Meredith K; Humphreys, Peter; McMillan, Hugh J; Boycott, Kym M

    2018-04-01

    Hereditary spastic paraplegia is a phenotypically and genetically heterogeneous group of neurodegenerative disorders characterized by lower extremity weakness and spasticity. Spastic paraplegia 4 (SPG4), caused by heterozygous mutations in the gene SPAST, typically causes a late-onset, uncomplicated form of hereditary spastic paraplegia in affected individuals. Additional clinical features in SPG4 have been reported on occasion, but no genotype-phenotype correlation has been established. Through targeted clinical testing, we identified 2 unrelated female patients with the same de novo p.Arg499His mutation in SPAST. Both patients presented with early-onset spasticity resulting in delayed motor milestones, which led to a diagnosis of cerebral palsy in one child and tethered cord in the other. Review of the literature identified several patients with mutations at amino acid 499 and early-onset symptoms associated with a risk of cognitive impairment. Early and accurate diagnosis of children with early-onset spasticity is important for informed prognosis and genetic counselling.

  1. Lewy body dementia--clinical, pathological and neurochemical interconnections.

    Science.gov (United States)

    Perry, R; McKeith, I; Perry, E

    1997-01-01

    Senile dementia of Lewy body type or Lewy body dementia (SDLT or LBD) is defined as a Lewy body associated disease presenting in the elderly primarily with dementia with variable extrapyramidal disorder. Characteristic clinical symptoms include fluctuating cognitive impairment, psychotic features such as hallucinations and a particular sensitivity to neuroleptic medication. Although apolipoprotein e4 allele is increased 2-3 fold in SDLT (as in Alzheimer's disease) and beta-amyloidosis occurs in most cases, the most robust neurobiological correlate of the dementia so far identified appears to be extensive cholinergic deficits in the neocortex. This is consistent with previously reported correlations between cortical cholinergic activity and dementia in Parkinson's disease (PD) and Alzheimer's disease. There is also a significant interaction between the density of limbic cortical Lewy bodies and dementia in both SDLT and PD, although the cortical neuronal population affected remains to be identified. Cortical Lewy body density is positively correlated with the age of disease onset in PD and SDLT. This may account for the increased incidence of psychiatric syndromes, as opposed to extrapyramidal disorder in Lewy body disease with advancing age as may age-related loss of cholinergic activity in cortical areas such as the hippocampus.

  2. Midlife cardiovascular fitness and dementia: A 44-year longitudinal population study in women.

    Science.gov (United States)

    Hörder, Helena; Johansson, Lena; Guo, XinXin; Grimby, Gunnar; Kern, Silke; Östling, Svante; Skoog, Ingmar

    2018-04-10

    To investigate whether greater cardiovascular fitness in midlife is associated with decreased dementia risk in women followed up for 44 years. A population-based sample of 1,462 women 38 to 60 years of age was examined in 1968. Of these, a systematic subsample comprising 191 women completed a stepwise-increased maximal ergometer cycling test to evaluate cardiovascular fitness. Subsequent examinations of dementia incidence were done in 1974, 1980, 1992, 2000, 2005, and 2009. Dementia was diagnosed according to DSM-III-R criteria on the basis of information from neuropsychiatric examinations, informant interviews, hospital records, and registry data up to 2012. Cox regressions were performed with adjustment for socioeconomic, lifestyle, and medical confounders. Compared with medium fitness, the adjusted hazard ratio for all-cause dementia during the 44-year follow-up was 0.12 (95% confidence interval [CI] 0.03-0.54) among those with high fitness and 1.41 (95% CI 0.72-2.79) among those with low fitness. High fitness delayed age at dementia onset by 9.5 years and time to dementia onset by 5 years compared to medium fitness. Among Swedish women, a high cardiovascular fitness in midlife was associated with a decreased risk of subsequent dementia. Promotion of a high cardiovascular fitness may be included in strategies to mitigate or prevent dementia. Findings are not causal, and future research needs to focus on whether improved fitness could have positive effects on dementia risk and when during the life course a high cardiovascular fitness is most important. Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

  3. Adult ADHD: Risk Factor for Dementia or Phenotypic Mimic?

    Directory of Open Access Journals (Sweden)

    Brandy L. Callahan

    2017-08-01

    Full Text Available Attention-deficit hyperactivity disorder (ADHD has historically been considered a disorder of childhood and adolescence. However, it is now recognized that ADHD symptoms persist into adulthood in up to 60% of individuals. Some of the cognitive symptoms that characterize ADHD (inability to provide sustained attention or mental effort, difficulty organizing or multi-tasking, forgetfulness may closely resemble symptoms of prodromal dementia, also often referred to as mild cognitive impairment (MCI, particularly in patients over age 50. In addition to the overlap in cognitive symptoms, adults with ADHD and those with MCI may also share a number of behavioral and psychiatric symptoms, including sleep disturbances, depression, and anxiety. As a result, both syndromes may be difficult to distinguish clinically in older patients, particularly those who present to memory clinics with subjective cognitive complaints and fear the onset of a neurodegenerative process: is it ADHD, MCI, or both? Currently, it is unclear whether ADHD is associated with incipient dementia or is being misdiagnosed as MCI due to symptom overlap, as there exist data supporting either possibility. Here, we aim to elucidate this issue by outlining three hypothetical ways in which ADHD and MCI might relate to each other, providing an overview of the evidence relevant to each hypothesis, and delineating areas for future research. This is a question of considerable importance, with implications for improved diagnostic specificity of early dementia, improved accuracy of disease prevalence estimates, and better identification of individuals for targeted treatment.

  4. Functional neuroimaging of Alzheimer's disease and other dementias

    International Nuclear Information System (INIS)

    Wang Ruimin

    2001-01-01

    Dementing illnesses comprise Alzheimer's disease (AD), Pick's disease, Multi-infarct dementia (MID) and other neurological disorders. These diseases have different clinical characters respectively. Neuropsychological examinations can help to diagnose and differential diagnose dementias. The development of neuroimaging dementias is more and more rapid. 18 F-FDG PET method shows neo-cortical hypometabolism occurring in the biparietal-temporal lobes and left-right asymmetry of AD patients in the early stage. It can also differential diagnose Ad from other dementias

  5. Dementia.

    Science.gov (United States)

    Nardone, Raffaele; Golaszewski, Stefan; Trinka, Eugen

    2013-01-01

    Transcranial magnetic stimulation (TMS) has been used extensively to characterize motor system pathophysiology in Alzheimer's disease (AD) and other forms of dementia, as well to monitor the effects of certain pharmacological agents. Among the studies focusing on motor cortical excitability measures, the most consistent finding is a significant reduction of short-latency afferent inhibition (SAI) in AD and other forms of dementia in which the cholinergic system is affected, such as dementia with Lewy bodies. SAI evaluation may thus provide a reliable biomarker of cortical cholinergic dysfunction in dementias. Moreover, most TMS studies have demonstrated cortical hyperexcitability and asymptomatic motor cortex functional reorganization in the early stages of the disease. Integrated approaches utilizing TMS together with high-density EEG have indicated impaired cortical plasticity and functional connectivity across different neural networks in AD. Paired associative stimulation-induced plasticity has also been found to be abnormal in patients with AD. The development of novel noninvasive methods of brain stimulation, in particular repetitive TMS (rTMS) and transcranial direct current stimulation (tDCS), has increased the interest in neuromodulatory techniques as potential therapeutic tools for cognitive rehabilitation in AD. Preliminary studies have revealed that rTMS and tDCS can induce beneficial effects on specific cognitive functions in AD. Future studies are warranted to replicate and extend the initial findings. © 2013 Elsevier B.V. All rights reserved.

  6. Effects of comorbidity and early age of onset in young people with Bipolar Disorder on self harming behaviour and suicide attempts.

    Science.gov (United States)

    Moor, Stephanie; Crowe, Marie; Luty, Sue; Carter, Janet; Joyce, Peter R

    2012-02-01

    The age of the first episode of illness in Bipolar Disorder has been shown to be an important predictor of outcome with early onset, particularly onset before puberty, associated with greater comorbidity, a poorer quality of life and greatest impairment in functioning. Baseline data from a psychotherapy study was used to examine the prevalence of other comorbid psychiatric conditions and the impact of onset at an early age on both self harming behaviour and suicide attempts in young people with Bipolar Disorder. This study of 100 adolescents and young adults (aged 15-36 years) with Bipolar Disorder showed that comorbid conditions were very common, even at the start of their bipolar illness. Comorbidity increased as the age of onset decreased with very early onset (self harmed and attempted suicide with high lethal intent. Self harming behaviour was predicted by having a lifetime diagnoses of Borderline Personality Disorder and Panic Disorder along with an early age of onset of Bipolar Disorder. In contrast, previous suicide attempts were predicted by greater comorbidity and not by very early (<13 years) age of onset. Copyright © 2011 Elsevier B.V. All rights reserved.

  7. The clinical differentiation of fronto-temporal dementia from psychiatric disease

    OpenAIRE

    Panegyres, Peter K; Graves, Angela; Frencham, Kate AR

    2007-01-01

    Objective Frontal and/or temporal lobar atrophy (F/TA) is sometimes detected on neuroimaging in patients with psychiatric disease. This observation leads to difficulty in distinguishing whether patients have fronto-temporal dementia (FTD) or psychiatric illness. This paper sets out to develop clinical profiles that might be useful at first presentation to distinguish these two populations. Methods 29 patients were selected from a database of 250 current patients attending young onset dementia...

  8. Pathways to dementia diagnosis among South Asian Canadians.

    Science.gov (United States)

    McCleary, Lynn; Persaud, Malini; Hum, Susan; Pimlott, Nicholas J G; Cohen, Carole A; Koehn, Sharon; Leung, Karen K; Dalziel, William B; Kozak, Jean; Emerson, Victor F; Silvius, James L; Garcia, Linda; Drummond, Neil

    2013-11-01

    Urban centers are increasingly ethnically diverse. However, some visible minorities are less likely than their majority counterparts to seek and receive services and treatment for dementia. This study explored experiences of South Asian Canadians, Canada's largest visible minority group, prior to dementia diagnosis. Six persons with dementia and eight of their family carers described their early perceptions of dementia-related changes, actions taken, including help seeking and diagnosis, and affective responses. Early signs were attributed to aging or personality. Even after cognitive enhancers were prescribed, some respondents continued to believe that the dementia symptoms were 'normal'. Family carers' affective responses may be related to their attributions. Before seeking medical attention, family carers modified physical or social environments because of symptoms. Help seeking was delayed up to four years, even with significant dementia symptoms. Recognition of a health problem was influenced by safety concerns, emergence of new symptoms following trauma, and treatment for other health problems. For some, relatives living outside the home or outside Canada were instrumental in recognizing a problem and convincing family carers and persons with dementia to seek medical attention. The pathway to diagnosis might be easier with outreach to help South Asian immigrants differentiate between normal aging and dementia. Symptom recognition by physicians treating other acute conditions was a portal to dementia services for others. Screening and referral in acute care could result in earlier diagnosis and treatment.

  9. Polycystic ovary syndrome and early-onset preeclampsia: reproductive manifestations of increased cardiovascular risk.

    Science.gov (United States)

    Veltman-Verhulst, Susanne M; van Rijn, Bas B; Westerveld, H Egbertine; Franx, Arie; Bruinse, Hein W; Fauser, Bart C J M; Goverde, Angelique J

    2010-01-01

    Primary prevention of cardiovascular disease (CVD) in women is a major healthcare issue. Detection of premenopausal women with increased risk of CVD could enhance prevention strategies and reduce first event-related morbidity and mortality. In this study, we argue that an unfavorable metabolic constitution in women may present itself early in life as a reproductive complication, such as polycystic ovary syndrome (PCOS) and preeclampsia. We evaluated the cardiovascular risk of women with a history of early-onset preeclampsia and women with PCOS and assessed their need for implementation of early risk factor-reduction strategies. We performed a standardized evaluation of 240 women with a history of early-onset preeclampsia and 456 women diagnosed with PCOS for established major CVD risk factors. Metabolic syndrome characteristics were analyzed per body mass index category. Mean age was 30.6 and 29.0 years for women with preeclampsia and PCOS, respectively. High percentages of metabolic syndrome were found in both groups (preeclampsia group, 14.6%; and PCOS group, 18.4%), with an incidence of greater than 50% in both groups of women if body mass index was greater than 30 kg/m. Overall, more than 90% of the women qualified for either lifestyle or medical intervention according to the American Heart Association guideline for CVD prevention in women. Women with PCOS and early-onset preeclampsia already show an unfavorable cardiovascular risk profile with high need for lifestyle or medical intervention at a young age. We therefore recommend an active role of the gynecologist in routine screening and follow-up of women with reproductive conditions linked to future cardiovascular risk.

  10. Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.

    Science.gov (United States)

    Záhoráková, D; Langová, M; Brožová, K; Laštůvková, J; Kalina, Z; Rennerová, L; Martásek, P

    2016-01-01

    The X-linked CDKL5 gene, which encodes cyclin-dependent kinase-like 5 protein, has been implicated in early-onset encephalopathy and atypical Rett syndrome with early-onset seizures. The CDKL5 protein is a kinase required for neuronal development and morphogenesis, but its precise functions are still largely unexplored. Individuals with CDKL5 mutations present with severe global developmental delay, intractable epilepsy, and Rett-like features. A clear genotype-phenotype correlation has not been established due to an insufficient number of reported cases. The aim of this study was to analyse the CDKL5 gene in Czech patients with early-onset seizures and Rett-like features. We performed mutation screening in a cohort of 83 individuals using high-resolution melting analysis, DNA sequencing and multiplex ligation- dependent probe amplification. Molecular analyses revealed heterozygous pathogenic mutations in three girls with severe intellectual disability and intractable epilepsy starting at the age of two months. All three identified mutations, c.637G>A, c.902_977+29del105, and c.1757_1758delCT, are novel, thus significantly extending the growing spectrum of known pathogenic CDKL5 sequence variants. Our results support the importance of genetic testing of the CDKL5 gene in patients with early-onset epileptic encephalopathy and Rett-like features with early-onset seizures. This is the first study referring to molecular defects of CDKL5 in Czech cases.

  11. Early drinking onset: a study of prevalence and determinants among 13-year-old adolescents in Norway.

    Science.gov (United States)

    Adolfsen, Frode; Strøm, Henriette Kyrrestad; Martinussen, Monica; Natvig, Henrik; Eisemann, Martin; Handegård, Bjørn Helge; Koposov, Roman

    2014-10-01

    Early drinking onset is associated with different psychosocial adjustment problems among adolescents. The aim of this study was to assess determinants associated with early drinking and to identify factors predicting early drinking onset among adolescents. The study included 1,550 eighth-graders with a mean age of 13.5 years from 41 schools. A total of 24% (boys 29%, girls 19%) had ever drunk alcohol, while 14% had drunk some alcohol in the last 30 days. Further, early drinking was associated with gender, religion, school performance, smoking and bullying in the bivariate tests. Predictors of early drinking onset were identified by generalized linear mixed models with two multivariable models created. The first model included social and environmental variables. Entering intentions, expectancies, attitudes and norms into the multivariable analysis resulted in a significant improvement of the model fit constituting 86% in the second model. The percentage correctly classified those (56%) who had been drinking in the second model which was two times higher compared to the first model. Gender, religion and smoking emerged as significant predictors of drinking in both models. © 2014 Scandinavian Psychological Associations and John Wiley & Sons Ltd.

  12. Neuropsychological evidence for abnormal neurodevelopment associated with early-onset psychoses.

    Science.gov (United States)

    Bombin, I; Mayoral, M; Castro-Fornieles, J; Gonzalez-Pinto, A; de la Serna, E; Rapado-Castro, M; Barbeito, S; Parellada, M; Baeza, I; Graell, M; Payá, B; Arango, C

    2013-04-01

    The longitudinal neuropsychological study of first-episode early-onset psychosis (EOP) patients, whose brain maturation is still in progress at the time of illness onset, provides a unique opportunity to compare their cognitive development with that of healthy subjects, in search of specific patterns resulting from the interaction between neurodevelopmental processes and the presence of psychotic disorders. Method Seventy-five first-episode EOP patients (schizophrenia n = 35; bipolar disorder n = 17; other forms of psychosis n = 23) with a mean age of 15.53 years were assessed with a neuropsychological battery that included measures of attention, working memory, memory and executive functions within 6 months following the onset of the first psychotic symptom (baseline) and 2 years later. Psychotic symptoms were assessed at both times with the Positive and Negative Symptom Scale (PANSS). Seventy-nine healthy subjects matched for age and education served as controls. EOP patients showed significant cognitive impairment at both baseline and the 2-year follow-up, with no significant differences between diagnostic groups at either time. Both healthy controls and EOP patients improved in all cognitive measures, except for patient working memory. Improvement in patient attention lost significance after controlling for psychotic symptom reduction. No significant time/diagnosis interaction was found among patients (p > 0.405). Cognitive impairment in EOP is already present at the first episode, and cognitive development seems to be arrested early in EOP patients compared to their healthy peers, at least for some cognitive functions. These and previous similar results support the neurodevelopmental hypothesis of psychosis.

  13. Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors

    Science.gov (United States)

    Tournier, Isabelle; Marlin, Régine; Walton, Kelly; Charbonnier, Françoise; Coutant, Sophie; Théry, Jean-Christophe; Charbonnier, Camille; Spurrell, Cailyn; Vezain, Myriam; Ippolito, Lorena; Bougeard, Gaëlle; Roman, Horace; Tinat, Julie; Sabourin, Jean-Christophe; Stoppa-Lyonnet, Dominique; Caron, Olivier; Bressac-de Paillerets, Brigitte; Vaur, Dominique; King, Mary-Claire; Harrison, Craig; Frebourg, Thierry

    2014-01-01

    To identify novel genetic bases of early-onset epithelial ovarian tumors, we used the trio exome sequencing strategy in a patient without familial history of cancer who presented metastatic serous ovarian adenocarcinomas at 21 years of age. We identified a single de novo mutation (c.1157A>G/p.Asn386Ser) within the INHBA gene encoding the βA-subunit of inhibins/activins, which play a key role in ovarian development. In vitro, this mutation alters the ratio of secreted activins and inhibins. In a second patient with early-onset serous borderline papillary cystadenoma, we identified an unreported germline mutation (c.179G>T/p.Arg60Leu) of the INHA gene encoding the α-subunit, the partner of the βA-subunit. This mutation also alters the secreted activin/inhibin ratio, by disrupting both inhibin A and inhibin B biosynthesis. In a cohort of 62 cases, we detected an additional unreported germline mutation of the INHBA gene (c.839G>A/p.Gly280Glu). Our results strongly suggest that inhibin mutations contribute to the genetic determinism of epithelial ovarian tumors. PMID:24302632

  14. SPIRIT advance care planning intervention in early stage dementias: An NIH stage I behavioral intervention development trial.

    Science.gov (United States)

    Song, Mi-Kyung; Ward, Sandra E; Hepburn, Kenneth; Paul, Sudeshna; Shah, Raj C; Morhardt, Darby J

    2018-06-02

    People in the early stages of Alzheimer's disease and related dementias (ADRD) are encouraged to engage in advance care planning (ACP) while they are still competent to appoint a surrogate decision maker and meaningfully participate in ACP discussions with the surrogate. In this NIH Stage I behavioral intervention development trial, we will adapt and test an efficacious ACP intervention, SPIRIT (Sharing Patient's Illness Representation to Increase Trust), with people with mild dementia and their surrogates to promote open, honest discussions while such discussions about end-of-life care are possible. We will first adapt SPIRIT (in person) to target people with mild dementia and their surrogates through a process of modification-pretesting-refinement using stakeholders (persons with mild dementia, family caregivers, and clinicians) and experts, including adapting the delivery mode to interactive web-based videoconference format (SPIRIT-remote). Then in a 3-group RCT with 120 patient-surrogate dyads, we will evaluate the feasibility and acceptability of SPIRIT in-person and SPIRIT remote, and preliminary efficacy of SPIRIT compared to usual care on preparedness outcomes for end-of-life decision making (dyad congruence on goals of care, patient decisional conflict, and surrogate decision-making confidence) shortly after the intervention. This Stage I research of SPIRIT will generate valuable insights regarding how to improve ACP for people with mild dementia who will progress to an advanced stage of the disease in the foreseeable future. ClinicalTrials.gov NCT03311711, Registered 10/12/2017. Copyright © 2018. Published by Elsevier Inc.

  15. New Predictive Model at 11+0 to 13+6 Gestational Weeks for Early-Onset Preeclampsia With Fetal Growth Restriction.

    Science.gov (United States)

    Chang, Ying; Chen, Xu; Cui, Hong-Yan; Li, Xing; Xu, Ya-Ling

    2017-05-01

    The aim of the present study was to determine a predictive model for early-onset preeclampsia with fetal growth restriction (FGR) to be used at 11 +0 to 13 +6 gestational weeks, by combining the maternal serum level of pregnancy-associated plasma protein-A (PAPP-A), placental growth factor (PLGF), placental protein 13 (PP13), soluble endoglin (sEng), mean arterial pressure (MAP), and uterine artery Doppler. This was a retrospective cohort study of 4453 pregnant women. Uterine artery Doppler examination was conducted in the first trimester. Maternal serum PAPP-A, PLGF, PP13, and sEng were measured. Mean arterial pressure was obtained. Women were classified as with/without early-onset preeclampsia, and women with preeclampsia were classified as with/without FGR. Receiver operating characteristic analysis was performed to determine the value of the model. There were 30 and 32 pregnant women with early-onset preeclampsia with and without FGR. The diagnosis rate of early-onset preeclampsia with FGR was 67.4% using the predictive model when the false positive rate was set at 5% and 73.2% when the false positive rate was 10%. The predictive model (MAP, uterine artery Doppler measurements, and serum biomarkers) had some predictive value for the early diagnosis (11 +0 to 13 +6 gestational weeks) of early-onset preeclampsia with FGR.

  16. Prediction of dementia by hippocampal shape analysis

    DEFF Research Database (Denmark)

    Achterberg, Hakim C.; van der Lijn, Fedde; den Heijer, Tom

    2010-01-01

    This work investigates the possibility of predicting future onset of dementia in subjects who are cognitively normal, using hippocampal shape and volume information extracted from MRI scans. A group of 47 subjects who were non-demented normal at the time of the MRI acquisition, but were diagnosed...... with dementia during a 9 year follow-up period, was selected from a large population based cohort study. 47 Age and gender matched subjects who stayed cognitively intact were selected from the same cohort study as a control group. The hippocampi were automatically segmented and all segmentations were inspected...... and, if necessary, manually corrected by a trained observer. From this data a statistical model of hippocampal shape was constructed, using an entropy-based particle system. This shape model provided the input for a Support Vector Machine classifier to predict dementia. Cross validation experiments...

  17. Cerebrospinal Fluid Aβ43 Is Reduced in Early-Onset Compared to Late-Onset Alzheimer’s Disease, But Has Similar Diagnostic Accuracy to Aβ42

    Directory of Open Access Journals (Sweden)

    Camilla Lauridsen

    2017-06-01

    Full Text Available Background: Amyloid beta 1–43 (Aβ43 may be a useful additional biomarker for diagnosing Alzheimer’s disease (AD. We have investigated cerebrospinal fluid (CSF levels of Aβ43 in patients with early-onset AD in contrast to levels in late-onset AD. For comparison, in addition to the ‘core’ biomarkers, several other analytes were also determined [YKL-40, neurofilament light (NF-L, glial fibrillary acidic protein (GFAP, and progranulin].Material and Methods: Cerebrospinal fluid samples were obtained from patients with early-onset AD (age ≤ 62, n = 66, late-onset AD (age ≥ 68, n = 25, and groups of cognitively intact individuals (age ≤ 62, n = 41, age ≥ 68, n = 39. Core CSF AD biomarkers [amyloid beta 1–42 (Aβ42, total tau, phosphorylated tau] were analyzed, as well as levels of Aβ43 and other analytes, using commercially available enzyme-linked immunosorbent assays.Results: Cerebrospinal fluid Aβ43 was significantly reduced in early-onset AD compared to late-onset AD (14.8 ± 7.3 vs. 21.8 ± 9.4 pg/ml, respectively, whereas the levels of Aβ42 in the two AD groups were not significantly different (474.9 ± 142.0 vs. 539.6 ± 159.9 pg/ml, respectively. Aβ43 and all core biomarkers were significantly altered in patients with AD compared to corresponding controls. NF-L was significantly increased in early-onset AD compared to younger controls, an effect not found between the older groups. Relationships between the Aβ peptides and tau proteins, YKL-40, NF-L, GFAP and progranulin were also investigated without finding marked associations. However, age-associated increases in levels of tau proteins, YKL-40, NF-L and GFAP were found with respect to age in healthy controls. Results for these other analytes were similar to previously published data. Aβ43 did not improve diagnostic accuracy in either AD group compared to Aβ42. Discussion: Cerebrospinal fluid Aβ43, but not Aβ42 levels, varied significantly with age in patients with

  18. Current Role for Biomarkers in Clinical Diagnosis of Alzheimer Disease and Frontotemporal Dementia.

    Science.gov (United States)

    Sheikh-Bahaei, Nasim; Sajjadi, Seyed Ahmad; Pierce, Aimee L

    2017-11-14

    Purpose of review Alzheimer's disease (AD) and frontotemporal dementia can often be diagnosed accurately with careful clinical history, cognitive testing, neurological examination, and structural brain MRI. However, there are certain circumstances wherein detection of specific biomarkers of neurodegeneration or underlying AD pathology will impact the clinical diagnosis or treatment plan. We will review the currently available biomarkers for AD and frontotemporal dementia (FTD) and discuss their clinical importance. Recent findings With the advent of 18 F-labeled tracers that bind amyloid plaques, amyloid PET is now clinically available for the detection of amyloid pathology and to aid in a biomarker-supported diagnosis of AD or mild cognitive impairment (MCI) due to AD. It is not yet possible to test for the specific FTD pathologies (tau or TDP-43); however, a diagnosis of FTD may be "imaging supported" based upon specific MRI or FDG-PET findings. Cerebrospinal fluid measures of amyloid-beta, total-tau, and phospho-tau are clinically available and allow detection of both of the cardinal pathologies of AD: amyloid and tau pathology. Summary It is appropriate to pursue biomarker testing in cases of MCI and dementia when there remains diagnostic uncertainty and the result will impact diagnosis or treatment. Practically speaking, due to the rising prevalence of amyloid positivity with advancing age, measurement of biomarkers in cases of MCI and dementia is most helpful in early-onset patients, patients with atypical clinical presentations, or when considering referral for AD clinical trials.

  19. Premature adrenarche: novel lessons from early onset androgen excess.

    Science.gov (United States)

    Idkowiak, Jan; Lavery, Gareth G; Dhir, Vivek; Barrett, Timothy G; Stewart, Paul M; Krone, Nils; Arlt, Wiebke

    2011-08-01

    Adrenarche reflects the maturation of the adrenal zona reticularis resulting in increased secretion of the adrenal androgen precursor DHEA and its sulphate ester DHEAS. Premature adrenarche (PA) is defined by increased levels of DHEA and DHEAS before the age of 8 years in girls and 9 years in boys and the concurrent presence of signs of androgen action including adult-type body odour, oily skin and hair and pubic hair growth. PA is distinct from precocious puberty, which manifests with the development of secondary sexual characteristics including testicular growth and breast development. Idiopathic PA (IPA) has long been considered an extreme of normal variation, but emerging evidence links IPA to an increased risk of developing the metabolic syndrome (MS) and thus ultimately cardiovascular morbidity. Areas of controversy include the question whether IPA in girls is associated with a higher rate of progression to the polycystic ovary syndrome (PCOS) and whether low birth weight increases the risk of developing IPA. The recent discoveries of two novel monogenic causes of early onset androgen excess, apparent cortisone reductase deficiency and apparent DHEA sulphotransferase deficiency, support the notion that PA may represent a forerunner condition for PCOS. Future research including carefully designed longitudinal studies is required to address the apparent link between early onset androgen excess and the development of insulin resistance and the MS.

  20. Novel marker for the onset of frontotemporal dementia: early increase in activity-dependent neuroprotective protein (ADNP in the face of Tau mutation.

    Directory of Open Access Journals (Sweden)

    Yulie Schirer

    Full Text Available Tauopathy, a major pathology in Alzheimer's disease, is also found in ~50% of frontotemporal dementias (FTDs. Tau transcript, a product of a single gene, undergoes alternative splicing to yield 6 protein species, each with either 3 or 4 microtubule binding repeat domains (tau 3R or 4R, associated with dynamic and stable microtubules, respectively. While the healthy human brain shows a 1/1 ratio of tau 3R/4R, this ratio may be dramatically changed in the FTD brain. We have previously discovered that activity-dependent neuroprotective protein (ADNP is essential for brain formation in the mouse, with ADNP+/- mice exhibiting tauopathy, age-driven neurodegeneration and behavioral deficits. Here, in transgenic mice overexpressing a mutated tau 4R species, in the cerebral cortex but not in the cerebellum, we showed significantly increased ADNP expression (~3-fold transcripts in the cerebral cortex of young transgenic mice (~disease onset, but not in the cerebellum, as compared to control littermates. The transgene-age-related increased ADNP expression paralleled augmented dynamic tau 3R transcript level compared to control littermates. Blocking mutated tau 4R transgene expression resulted in normalization of ADNP and tau 3R expression. ADNP was previously shown to be a member of the SWItch/Sucrose NonFermentable (SWI/SNF chromatin remodeling complex. Here, Brahma (Brm, a component of the SWI/SNF complex regulating alternative splicing, showed a similar developmental expression pattern to ADNP. Immunoprecipitations further suggested Brm-ADNP interaction coupled to ADNP - polypyrimidine tract-binding protein (PTB-associated splicing factor (PSF-binding, with PSF being a direct regulator of tau transcript splicing. It should be noted that although we have shown a correlation between levels of ADNP and tau isoform expression three months of age, we are not presenting evidence of a direct link between the two. Future research into ADNP/tau relations is

  1. Evaluation of common genetic variants identified by GWAS for early onset and morbid obesity in population-based samples

    DEFF Research Database (Denmark)

    den Hoed, M; Luan, J; Langenberg, C

    2013-01-01

    BACKGROUND: Meta-analysis of case-control genome-wide association studies (GWAS) for early onset and morbid obesity identified four variants in/near the PRL, PTER, MAF and NPC1 genes. OBJECTIVE: We aimed to validate association of these variants with obesity-related traits in population-based sam......BACKGROUND: Meta-analysis of case-control genome-wide association studies (GWAS) for early onset and morbid obesity identified four variants in/near the PRL, PTER, MAF and NPC1 genes. OBJECTIVE: We aimed to validate association of these variants with obesity-related traits in population......, these variants, which were identified in a GWAS for early onset and morbid obesity, do not seem to influence obesity-related traits in the general population....

  2. The affective dimension of early-onset psychosis and its relationship with suicide.

    Science.gov (United States)

    Sanchez-Gistau, Vanessa; Baeza, Inmaculada; Arango, Celso; González-Pinto, Ana; de la Serna, Elena; Parellada, Mara; Graell, Montserrat; Paya, Beatriz; Llorente, Cloe; Castro-Fornieles, Josefina

    2015-07-01

    The affective dimension has scarcely been studied in early-onset psychosis. Our aims were to investigate the prevalence and type of affective symptoms in the prodromal and acute phases of early-onset psychosis and to examine their relationship with suicide. We also sought to establish whether the presence of premorbid antecedents or the presence of affective symptoms during the prodromal and acute phase might predict a later diagnosis of bipolar disorder (BP) or schizophrenia (SZ). Participants were 95 youths, aged 9-17 years, experiencing a first episode of a psychotic disorder (FEP) according to DSM-IV criteria. Prodromal affective symptoms in the year prior to the onset of full-blown psychosis were assessed by means of the K-SADS. Affective symptoms during the acute episode were evaluated using the Hamilton Depression Rating Scale and the Young Mania Rating Scale. Suicidality was assessed during the acute episode and at 6 and 12 months. Half of the patients experienced affective symptoms during the prodrome, with depressive symptoms being the most frequently reported. During the acute episode, 23.2% presented depressive, 41.4% mixed and 18.9% manic symptoms. After logistic regression analysis, only the presence of depressive symptoms was significantly associated with suicidality during the 12 months following the FEP. Neither early premorbid antecedents nor the prevalence or type of affective symptoms during the FEP predicted a diagnosis of BP or SZ at 12 months. However, both depressive and manic prodromal symptoms were associated with a later diagnosis of BP. The FEP of both SZ and BP is preceded by an identifiable prodromal phase. Early detection programs should target young people at clinical risk for the extended psychosis phenotype. The high prevalence of affective symptoms during the early phases of psychosis may encourage clinicians to identify and treat them in order to prevent suicide behaviour. © 2014 Association for Child and Adolescent Mental

  3. Senile dementia of the Binswanger type: a vascular form of dementia in the elderly

    International Nuclear Information System (INIS)

    Roman, G.C.

    1987-01-01

    Computed tomography and magnetic resonance imaging in the elderly have demonstrated the common occurrence of deep white-matter lesions in the aging brain. These radiologic lesions (leukoaraiosis) may represent an early marker of dementia. At autopsy, an ischemic periventricular leukoencephalopathy (Binswanger's disease) has been found in most cases. The clinical spectrum of Binswanger's disease appears to range from asymptomatic radiologic lesions to dementia with focal deficits, frontal signs, pseudobulbar palsy, gait difficulties, and urinary incontinence. The name senile dementia of the Binswanger type (SDBT) is proposed for this poorly recognized, vascular form of subcortical dementia. The SDBT probably results from cortical disconnections most likely caused by hypoperfusion. In contrast, multi-infarct dementia is correlated with multiple large and small strokes that cause a loss of over 50 to 100 mL of brain volume. The periventricular white matter is a watershed area irrigated by long, penetrating medullary arteries. Risk factors for SDBT are small-artery diseases, such as hypertension and amyloid angiopathy, impaired autoregulation of cerebral blood flow in the elderly, and periventricular hypoperfusion due to cardiac failure, arrhythmias, and hypotension. The SDBT may be a potentially preventable and treatable form of dementia

  4. Circulatory nucleosome levels are significantly increased in early and late-onset preeclampsia.

    Science.gov (United States)

    Zhong, Xiao Yan; Gebhardt, Stefan; Hillermann, Renate; Tofa, Kashefa Carelse; Holzgreve, Wolfgang; Hahn, Sinuhe

    2005-08-01

    Elevations in circulatory DNA, as measured by real-time PCR, have been observed in pregnancies with manifest preeclampsia. Recent reports have indicated that circulatory nucleosome levels are elevated in the periphery of cancer patients. We have now examined whether circulatory nucleosome levels are similarly elevated in cases with preeclampsia. Maternal plasma samples were prepared from 17 cases with early onset preeclampsia (34 weeks gestation) with 10 matched normotensive controls. Levels of circulatory nucleosomes were quantified by commercial ELISA (enzyme-linked immunosorbant assay). The level of circulatory nucleosomes was significantly elevated in both study preeclampsia groups, compared to the matched normotensive control group (p = 0.000 and p = 0.001, respectively). Our data suggests that preeclampsia is associated with the elevated presence of circulatory nucleosomes, and that this phenomenon occurs in both early- and late-onset forms of the disorder. Copyright 2005 John Wiley & Sons, Ltd.

  5. Differential diagnosis of neurodegenerative dementias with nuclear medicine methods

    International Nuclear Information System (INIS)

    Kluge, R.

    2015-01-01

    Full text: Neurodegenerative dementias (NDD) are characterized by insidious onset and gradual progression of cognitive dysfunction, initially relatively focal with respect to cognitive domains and brain regions involved. Nuclear medicine techniques help to clarify differential diagnoses of syndromes such as Alzheimer’s disease (AD), dementia with Lewy bodies (DlB), posterior cortical atrophy (PCA), logopenic primary progressive aphasia (PPA), agrammatic PPA, semantic dementia (SD), behavioral variant frontotemporal dementia (bvFTD) and progressive supranuclear palsy syndrome (PSPS). The process of pathologic changes in the brain may start decades before first clinical symptoms become evident. An early diagnosis already in the pre-clinical phase of the diseases will be of immense importance when expected effective therapeutic options have been introduced. NDDs are histopathologically characterized by accumulation of pathological proteins in the brain like beta amyloid or protein tau. While radiotracers for labeling of protein tau are in preclinical evaluation, different radiotracers labeling amyloid plaques ([11C]PIB, [18F]Florbetapir (Amyvid, Fa. EliLilly), [18F]Florbetaben (Neuraceq, Fa. Piramal), [18F]Flutemetamol (vVzamyl, Fa. Ge) have already been established in clinical use during the last years. In AD these tracers are intensively accumulated in the whole cortical brain. Even an early disease can be excluded in case of a negative amyloid PET. The method is, however, not highly specific since amyloid plaques may also be present in DlB (70 – 80%), FTD (30%) orlogopenicPPA (100%). Neuronal dysfunction goes along with decreased glucose consumption. Different diseases are characterized by different topographical zones of reduced [18F]FDG uptake. In AD the posterior cingular, temporopariatal and (later) frontal cortex are affected, in DlB the pattern is similar, including the occipital cortex, in FTD the frontal cortex is affected, in nonfluent PPA the

  6. Clinical Utility of Short Social Cognitive Tests in Early Differentiation of Behavioral Variant Frontotemporal Dementia from Alzheimer’s Disease

    DEFF Research Database (Denmark)

    Buhl, Christian; Stokholm, Jette; Gade, Anders

    2013-01-01

    Traditional cognitive tests used in clinical practice may not be sensitive enough for the early differentiation of behavioral variant frontotemporal dementia (bvFTD) from Alzheimer's disease (AD). A growing body of literature has shown that deficits in various aspects of social cognition can be f...

  7. Serial elongation-derotation-flexion casting for children with early-onset scoliosis.

    Science.gov (United States)

    Canavese, Federico; Samba, Antoine; Dimeglio, Alain; Mansour, Mounira; Rousset, Marie

    2015-12-18

    Various early-onset spinal deformities, particularly infantile and juvenile scoliosis (JS), still pose challenges to pediatric orthopedic surgeons. The ideal treatment of these deformities has yet to emerge, as both clinicians and surgeons still face multiple challenges including preservation of thoracic motion, spine and cage, and protection of cardiac and lung growth and function. Elongation-derotation-flexion (EDF) casting is a technique that uses a custom-made thoracolumbar cast based on a three-dimensional correction concept. EDF can control progression of the deformity and - in some cases-coax the initially-curved spine to grow straighter by acting simultaneously in the frontal, sagittal and coronal planes. Here we provide a comprehensive review of how infantile and JS can affect normal spine and thorax and how serial EDF casting can be used to manage these spinal deformities. A fresh review of the literature helps fully understand the principles of the serial EDF casting technique and the effectiveness of conservative treatment in patients with early-onset spinal deformities, particularly infantile and juvenile scolisois.

  8. Early-onset stroke with moyamoya-like syndrome and extraneurological signs: a first reported paediatric series

    International Nuclear Information System (INIS)

    Law-ye, Bruno; Saliou, Guillaume; Toulgoat, Frederique; Tardieu, Marc; Deiva, Kumaran; Adamsbaum, Catherine; Husson, Beatrice

    2016-01-01

    Moyamoya syndrome is characterised by an occlusion of the carotid terminations with the development of collateral vessels. Our objective is to describe a series of infants presenting early-onset moyamoya-like syndrome, which may constitute a distinct entity. From a cohort of children with rare cerebral vascular pathologies, we studied eight infants (28 days-1 year) with early-onset moyamoya-like syndrome demonstrated by angiography. We retrospectively analysed the patterns on MRI and MRA, as well as all other available data. Median age at diagnosis was 7 months (IQR: 6-8) with arterial ischaemic stroke in the middle cerebral artery territory. All of the children experienced severe stroke recurrence within a median time of 11 months (IQR: 10-12), and all showed extraneurological symptoms. The anterior cerebral circulation was involved in all cases and the posterior circulation was involved in six. Two children died and all of the other children suffered permanent neurological deficits. The presence of extraneurological signs in cases of early-onset moyamoya syndrome is suggestive of a newly described systemic vasculopathy with predominantly cerebrovascular expression. Given its rapid progression marked by severe recurrent strokes and poor clinical outcome, early diagnosis could help in the decision to institute aggressive therapy. (orig.)

  9. Early-onset baldness and the risk of aggressive prostate cancer: findings from a case-control study.

    Science.gov (United States)

    Papa, Nathan P; MacInnis, Robert J; English, Dallas R; Bolton, Damien; Davis, Ian D; Lawrentschuk, Nathan; Millar, Jeremy L; Severi, Gianluca; Hopper, John L; Giles, Graham G

    2018-01-01

    We aimed to evaluate the associations between androgenetic alopecia at a young age and subsequent development of aggressive prostate cancer (PC). Using a case-control design with self-administered questionnaire, we evaluated the association between aggressive PC and very early-onset balding at age 20, and early-onset balding at age 40 years in 1,941 men. Cases were men with high-grade and/or advanced stage cancer and controls were clinic based men who had undergone biopsy and were found to be histologically cancer negative. Additionally, for cases we assessed whether early-onset balding was associated with earlier onset of disease. Men with very early-onset balding at age 20 years were at increased risk for subsequent aggressive PC [odds ratio (OR) 1.51, 95% confidence interval (CI) 1.07-2.12] after adjustment for age at baseline, family history of PC, smoking status, alcohol intake, body shape, timing of growth spurt and ejaculatory frequency. Additionally, these men were diagnosed with PC approximately 16 months earlier than cases without the exposure. The effect was present particularly for men with advanced stage pT3+ disease (OR 1.68, 95% CI 1.14-2.47) while men with organ-confined high-grade (8-10) PC did not exhibit the same relationship. No significant associations were observed for men who were balding at age 40 years, given no balding at age 20. Men with androgenetic alopecia at age 20 years are at increased risk of advanced stage PC. This small subset of men are potentially candidates for earlier screening and urological follow-up.

  10. Preliminary findings demonstrating latent effects of early adolescent marijuana use onset on cortical architecture

    Directory of Open Access Journals (Sweden)

    Francesca M. Filbey

    2015-12-01

    Conclusions: Divergent patterns between current MJ use and elements of cortical architecture were associated with early MJ use onset. Considering brain development in early adolescence, findings are consistent with disruptions in pruning. However, divergence with continued use for many years thereafter suggests altered trajectories of brain maturation during late adolescence and beyond.

  11. Identifying anomalously early spring onsets in the CESM large ensemble project

    Science.gov (United States)

    Labe, Zachary; Ault, Toby; Zurita-Milla, Raul

    2017-06-01

    Seasonal transitions from winter to spring impact a wide variety of ecological and physical systems. While the effects of early springs across North America are widely documented, changes in their frequency and likelihood under the combined influences of climate change and natural variability are poorly understood. Extremely early springs, such as March 2012, can lead to severe economical losses and agricultural damage when these are followed by hard freeze events. Here we use the new Community Earth System Model Large Ensemble project and Extended Spring Indices to simulate historical and future spring onsets across the United States and in the particular the Great Lakes region. We found a marked increase in the frequency of March 2012-like springs by midcentury in addition to an overall trend towards earlier spring onsets, which nearly doubles that of observational records. However, changes in the date of last freeze do not occur at the same rate, therefore, causing a potential increase in the threat of plant tissue damage. Although large-scale climate modes, such as the Pacific Decadal Oscillation, have previously dominated decadal to multidecadal spring onset trends, our results indicate a decreased role in natural climate variability and hence a greater forced response by the end of the century for modulating trends. Without a major reduction in greenhouse gas emissions, our study suggests that years like 2012 in the US could become normal by mid-century.

  12. What do children need to know about dementia? The perspectives of children and people with personal experience of dementia.

    Science.gov (United States)

    Baker, Jess R; Jeon, Yun-Hee; Goodenough, Belinda; Low, Lee-Fay; Bryden, Christine; Hutchinson, Karen; Richards, Laura

    2017-10-02

    The vision for dementia-friendly communities is challenged by limited public awareness and stigma about dementia. The study aim was to elicit stakeholder priorities for the message content of an education program to improve dementia awareness among youth; specifically, what do children need to know about dementia? A qualitative inquiry using interviews and focus groups was used. Purposive sampling achieved maximum variation in dementia experience and participant characteristics. Focus groups with Scouts in the community aged 9-12 years old (n = 22) used innovative techniques to explore children's attitudes towards people with dementia. Participants with personal experience of dementia were five people with early-stage dementia; 12 adult primary carers; four non-primary carers; and six grandchildren of a person with dementia. They were asked what is important for children to understand about dementia and what attitudes they may like an education program to confer. Content analysis was performed using NVivo10. Strong themes to emerge were that children need to know the whole truth about dementia; that individuals with dementia are "still people," that it is "not the fault" of the person with dementia; and that dementia is different and typically unpredictable for everyone. Discussions also indicated a need to educate children about ways to relate to a person with dementia, and to appreciate "positives" within a relationship. Children are our future citizens. Developing an education program for children with this message content may be fundamental to de-stigmatizing dementia and laying the foundation to dementia-friendly communities.

  13. Early-onset acute kidney injury is a poor prognostic sign for allogeneic SCT recipients.

    Science.gov (United States)

    Shingai, N; Morito, T; Najima, Y; Kobayashi, T; Doki, N; Kakihana, K; Ohashi, K; Ando, M

    2015-12-01

    Acute kidney injury (AKI) following stem-cell transplantation (SCT) contributes to a poor prognosis, yet its impact may vary depending on the timing of AKI onset. A prospective cohort study was performed to understand the significance of the onset timing in 103 allogeneic SCT (allo-SCT) recipients. AKI prior to stem-cell engraftment was defined as early AKI and subsequently occurring AKI as late AKI. Propensity score (PS) for early AKI was calculated using a logistic regression model to reduce confounding effects related to differences in clinical background between the early and late AKI groups. The cumulative incidences of early and late AKI were 22.3% and 54.9%, respectively. Non-relapse mortality (NRM) was 39.1% and 7.0%, and overall survival (OS) was 56.5% and 90.9% in early and late AKI at 100 days after AKI, respectively (PSCT was 41.5% and 19.1% in early and late AKI, respectively (P=0.048). Logistic regression analysis adjusted for the PS showed that early AKI was significantly associated with OS (odds ratio (95% confidence interval); 4.63 (1.15-21.4), P=0.031) but with neither NRM (1.25 (0.28-5.33), P=0.766) nor CKD (1.85 (0.41-8.60), P=0.422). In conclusion, early AKI may portend a poor survival for allo-SCT recipients.

  14. Early pubertal onset and its relationship with sexual risk taking, substance use and anti-social behaviour: a preliminary cross-sectional study

    Directory of Open Access Journals (Sweden)

    Bellis Mark A

    2009-12-01

    Full Text Available Abstract Background In many countries age at pubertal onset has declined substantially. Relatively little attention has been paid to how this decline may affect adolescent behaviours such as substance use, violence and unprotected sex and consequently impact on public health. Methods In the UK, two opportunistic samples (aged 16-45 years, paper-based (n = 976 and online (n = 1117, examined factors associated with earlier pubertal onset and whether earlier age of onset predicted sexual risk-taking, substance use and anti-social behaviours during early adolescence. Results Overall, 45.6% of females reported menarche ≤ 12 years and 53.3% of males were categorised as having pubertal onset ≤ 11 years. For both sexes earlier pubertal onset was associated with poorer parental socio-economic status. Other pre-pubertal predictors of early onset were being overweight, more childhood illnesses (females and younger age at time of survey (males. For both sexes earlier puberty predicted having drunk alcohol, been drunk, smoked and used drugs Conclusion Results provide sufficient evidence for changes in age of pubertal onset to be further explored as a potential influence on trends in adolescent risk behaviours. Further insight into the relationship between early puberty and both obesity and socio-economic status may help inform early interventions to tackle the development of risk behaviours and health inequalities during early adolescence.

  15. High Prevalence of Long QT Syndrome Associated SCN5A Variants in Patients with Early-Onset Lone Atrial Fibrillation

    DEFF Research Database (Denmark)

    Olesen, Morten S; Yuan, Lei; Liang, Bo

    2012-01-01

    a mechanistic overlap between LQTS3 and early-onset lone AF. In 9 of 10 identified mutations and rare variants, we observed compromised biophysical properties affecting the transient peak current. CONCLUSIONS: In a cohort of patients with early-onset lone AF, we identified a high prevalence of SCN5A mutations...

  16. Cerebral hemodynamic difference between early- and late-onset Alzheimer's disease by circumferential profile analysis with 123I-IMP brain SPECT

    International Nuclear Information System (INIS)

    Arai, Hisayuki; Hanyu, Haruo; Abe, Shinei; Asano, Tetsuichi; Takasaki, Masaru; Suzuki, Takanari; Abe, Kimihiko; Katsunuma, Hideyo.

    1992-01-01

    We conducted investigation to determine whether early- and late-onset Alzheimer's diseases differ pathophysiologically. Five patients with the early-onset (65 years and under) of the disease and 11 with the late-onset (65 years and over) of the disease were studied by single photon emission CT (SPECT) with N-isopropyl-p-[ 123 I]iodoamphetamine (IMP). Circumferential profile analysis (CPA) was performed to examine differences in the predominant hypoperfusion in the temporoparietal lobe, which is considered to be functionally damaged the most in Alzheimer's disease. The Xm values, calculated from gradients between the motorsensory or occipital cortices and temporoparietal cortex in the circumferential profile curve, were compared in both groups. The Xm values for patients with early- and late-onset Alzheimer's disease were 6.81±2.10 (counts/degree) and 3.28±1.58, respectively, the difference being significant. Our results suggest that functional abnormalities in the temporoparietal area severer in early- than late-onset Alzheimer's disease and that the application of CPA to IMP SPECT is useful to elucidate the pathophysiological difference between each of the disease. (author)

  17. Early Onset Childhood Obesity and Risk of Metabolic Syndrome

    Centers for Disease Control (CDC) Podcasts

    2017-10-09

    This podcast features Lorena Pacheco, a doctoral student at the University of California San Diego and one of the winners of PCD’s 2017 Student Research Paper Contest. Lorena answers questions about her winning research, which focuses on the relationship between early onset obesity as a risk factor for increased metabolic syndrome in Chilean children.  Created: 10/9/2017 by Preventing Chronic Disease (PCD), National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP).   Date Released: 10/9/2017.

  18. Early functional and morphological brain disturbances in late-onset intrauterine growth restriction.

    Science.gov (United States)

    Starčević, Mirta; Predojević, Maja; Butorac, Dražan; Tumbri, Jasna; Konjevoda, Paško; Kadić, Aida Salihagić

    2016-02-01

    To determine whether the brain disturbances develop in late-onset intrauterine growth restriction (IUGR) before blood flow redistribution towards the fetal brain (detected by Doppler measurements in the middle cerebral artery and umbilical artery). Further, to evaluate predictive values of Doppler arterial indices and umbilical cord blood gases and pH for early functional and/or morphological brain disturbances in late-onset IUGR. This cohort study included 60 singleton term pregnancies with placental insufficiency caused late-onset IUGR (IUGR occurring after 34 gestational weeks). Umbilical artery resistance index (URI), middle cerebral artery resistance index (CRI), and cerebroumbilical (C/U) ratio (CRI/URI) were monitored once weekly. Umbilical blood cord samples (arterial and venous) were collected for the analysis of pO2, pCO2 and pH. Morphological neurological outcome was evaluated by cranial ultrasound (cUS), whereas functional neurological outcome by Amiel-Tison Neurological Assessment at Term (ATNAT). 50 fetuses had C/U ratio>1, and 10 had C/U ratio≤1; among these 10 fetuses, 9 had abnormal neonatal cUS findings and all 10 had non-optimal ATNAT. However, the total number of abnormal neurological findings was much higher. 32 neonates had abnormal cUS (53.37%), and 42 (70.00%) had non-optimal ATNAT. Furthermore, Doppler indices had higher predictive validity for early brain disturbances than umbilical cord blood gases and pH. C/U ratio had the highest predictive validity with threshold for adverse neurological outcome at value 1.13 (ROC analysis), i.e., 1.18 (party machine learning algorithm). Adverse neurological outcome at average values of C/U ratios>1 confirmed that early functional and/or structural brain disturbances in late-onset IUGR develop even before activation of fetal cardiovascular compensatory mechanisms, i.e., before Doppler signs of blood flow redistribution between the fetal brain and the placenta. Copyright © 2015 Elsevier Ireland Ltd

  19. High-Definition transcranial direct current stimulation in early onset epileptic encephalopathy: a case study.

    Science.gov (United States)

    Meiron, Oded; Gale, Rena; Namestnic, Julia; Bennet-Back, Odeya; David, Jonathan; Gebodh, Nigel; Adair, Devin; Esmaeilpour, Zeinab; Bikson, Marom

    2018-01-01

    Early onset epileptic encephalopathy is characterized by high daily seizure-frequency, multifocal epileptic discharges, severe psychomotor retardation, and death at infancy. Currently, there are no effective treatments to alleviate seizure frequency and high-voltage epileptic discharges in these catastrophic epilepsy cases. The current study examined the safety and feasibility of High-Definition transcranial direct current stimulation (HD-tDCS) in reducing epileptiform activity in a 30-month-old child suffering from early onset epileptic encephalopathy. HD-tDCS was administered over 10 intervention days spanning two weeks including pre- and post-intervention video-EEG monitoring. There were no serious adverse events or side effects related to the HD-tDCS intervention. Frequency of clinical seizures was not significantly reduced. However, interictal sharp wave amplitudes were significantly lower during the post-intervention period versus baseline. Vital signs and blood biochemistry remained stable throughout the entire study. These exploratory findings support the safety and feasibility of 4 × 1 HD-tDCS in early onset epileptic encephalopathy and provide the first evidence of HD-tDCS effects on paroxysmal EEG features in electroclinical cases under the age of 36 months. Extending HD-tDCS treatment may enhance electrographic findings and clinical effects.

  20. Fitness to drive in early stage dementia : an instrumented vehicle study.

    Science.gov (United States)

    2009-10-01

    Over 25 percent of people age 80 and older suffer from some form of dementia, with Alzheimers Disease accounting for around 75 percent of all instances. It is estimated that around one-third of people with dementia continue to drive. Compared to t...

  1. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

    Science.gov (United States)

    Fehr, Stephanie; Wilson, Meredith; Downs, Jenny; Williams, Simon; Murgia, Alessandra; Sartori, Stefano; Vecchi, Marilena; Ho, Gladys; Polli, Roberta; Psoni, Stavroula; Bao, Xinhua; de Klerk, Nick; Leonard, Helen; Christodoulou, John

    2013-03-01

    The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. This study uses a large international data collection to describe the clinical profile of the CDKL5 disorder and compare with Rett syndrome (RTT). Information on individuals with cyclin-dependent kinase-like 5 (CDKL5) mutations (n=86) and females with MECP2 mutations (n=920) was sourced from the InterRett database. Available photographs of CDKL5 patients were examined for dysmorphic features. The proportion of CDKL5 patients meeting the recent Neul criteria for atypical RTT was determined. Logistic regression and time-to-event analyses were used to compare the occurrence of Rett-like features in those with MECP2 and CDKL5 mutations. Most individuals with CDKL5 mutations had severe developmental delay from birth, seizure onset before the age of 3 months and similar non-dysmorphic features. Less than one-quarter met the criteria for early-onset seizure variant RTT. Seizures and sleep disturbances were more common than in those with MECP2 mutations whereas features of regression and spinal curvature were less common. The CDKL5 disorder presents with a distinct clinical profile and a subtle facial, limb and hand phenotype that may assist in differentiation from other early-onset encephalopathies. Although mutations in the CDKL5 gene have been described in association with the early-onset variant of RTT, in our study the majority did not meet these criteria. Therefore, the CDKL5 disorder should be considered separate to RTT, rather than another variant.

  2. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

    NARCIS (Netherlands)

    Bonifati, V.; Rohe, C.F.; Breedveld, G.J.; Fabrizio, E.; Mari, M. De; Tassorelli, C.; Tavella, A.; Marconi, R.; Nicholl, D.; Chien, H.F.; Fincati, E.; Abbruzzese, G.; Marini, P.; Gaetano, A. De; Horstink, M.W.I.M.; Maat-Kievit, J.A.; Sampaio, C.; Antonini, A.; Stocchi, F.; Montagna, P.; Toni, V.; Guidi, M.; Dalla Libera, A.; Tinazzi, M.; Pandis, F. De; Goldwurm, S.; Klein, A. de; Barbosa, E.; Lopiano, L.; Martignoni, E.; Lamberti, P.; Vanacore, N.; Meco, G.; Oostra, B.A.

    2005-01-01

    OBJECTIVE: To assess the prevalence, nature, and associated phenotypes of PINK1 gene mutations in a large series of patients with early-onset (<50 years) parkinsonism. METHODS: The authors studied 134 patients (116 sporadic and 18 familial; 77% Italian) and 90 Italian controls. The whole PINK1

  3. CDKL5 Mutations in Boys With Encephalopathy and Early-Onset Intractable Epilepsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-10-01

    Full Text Available Clinical and EEG data of 3 Italian boys (ages 3, 9, and 13 years with severe early-onset encephalopathy, mental retardation, facial dysmorphisms, and intractable epilepsy were found to carry missense mutations in the CDKL5 gene, in a report from Troina, Italy.

  4. Feelings of loneliness, but not social isolation, predict dementia onset: results from the Amsterdam Study of the Elderly (AMSTEL).

    Science.gov (United States)

    Holwerda, Tjalling Jan; Deeg, Dorly J H; Beekman, Aartjan T F; van Tilburg, Theo G; Stek, Max L; Jonker, Cees; Schoevers, Robert A

    2014-02-01

    Known risk factors for Alzheimer's disease and other dementias include medical conditions, genetic vulnerability, depression, demographic factors and mild cognitive impairment. The role of feelings of loneliness and social isolation in dementia is less well understood, and prospective studies including these risk factors are scarce. We tested the association between social isolation (living alone, unmarried, without social support), feelings of loneliness and incident dementia in a cohort study among 2173 non-demented community-living older persons. Participants were followed for 3 years when a diagnosis of dementia was assessed (Geriatric Mental State (GMS) Automated Geriatric Examination for Computer Assisted Taxonomy (AGECAT)). Logistic regression analysis was used to examine the association between social isolation and feelings of loneliness and the risk of dementia, controlling for sociodemographic factors, medical conditions, depression, cognitive functioning and functional status. After adjustment for other risk factors, older persons with feelings of loneliness were more likely to develop dementia (OR 1.64, 95% CI 1.05 to 2.56) than people without such feelings. Social isolation was not associated with a higher dementia risk in multivariate analysis. Feeling lonely rather than being alone is associated with an increased risk of clinical dementia in later life and can be considered a major risk factor that, independently of vascular disease, depression and other confounding factors, deserves clinical attention. Feelings of loneliness may signal a prodromal stage of dementia. A better understanding of the background of feeling lonely may help us to identify vulnerable persons and develop interventions to improve outcome in older persons at risk of dementia.

  5. Early onset neonatal sepsis in preterm premature rupture of membranes

    International Nuclear Information System (INIS)

    Ashraf, M.N.

    2015-01-01

    To determine the frequency of early onset neonatal sepsis in newborn with various duration of preterm premature rupture of membranes (PPROM). Study Design: Cross sectional study. Place and Duration of Study: Neonatal Intensive Care Unit Combined Military Hospital, Lahore from November 2009 to November 2010. Material and Methods: Neonates of singleton pregnancies complicated by preterm premature rupture of the membranes (PPROM) with delivery between 30 and 36 weeks gestation were included in the study. The overall frequency of neonatal sepsis was calculated on clinical and serological basis. Comparison of the frequency of sepsis among groups with varying duration of rupture of membranes was done. Results: Out of 164 babies, 84 (51.2%) were female and 80 (48.8%) were male. Mean maternal age was 23 years (range: 18-36 years). Mean gestational age was 33 weeks (range: 30-36 weeks). Sepsis was suspected in 41(25%) babies on clinical grounds. C-reactive protein was raised in 36 (22%) neonates. There was statistically insignificant difference between clinical versus serological diagnosis (p=0.515). Frequency of neonatal sepsis was significantly higher in mothers with longer duration of rupture of membrane (p < 0.001). Conclusion: Frequency of neonatal sepsis was observed to be 22%. PPROM is an important risk factor for early onset neonatal sepsis. (author)

  6. Technology-based tools and services for people with dementia and carers: Mapping technology onto the dementia care pathway.

    Science.gov (United States)

    Lorenz, Klara; Freddolino, Paul P; Comas-Herrera, Adelina; Knapp, Martin; Damant, Jacqueline

    2017-01-01

    The extent to which technology may be able to support people with dementia and their carers along the care pathway and in different care settings is of interest to policy makers and governments. In this paper we provide an overview of the role of technology in dementia care, treatment and support by mapping existing technologies - by function, target user and disease progression. Technologies identified are classified into seven functions: memory support, treatment, safety and security, training, care delivery, social interaction and other. Different groups of potential users are distinguished: people with mild cognitive impairment and early stages of dementia, people with moderate to severe dementia and unpaid carers and health- and social care professionals. We also identified the care settings, in which the technologies are used (or for which the technologies are developed): at home in the community and in institutional care settings. The evidence has been drawn from a rapid review of the literature, expert interviews and web and social media searches. The largest number of technologies identified aim to enhance the safety and security of people with dementia living in the community. These devices are often passive monitors, such as smoke detectors. Other safety interventions, such as panic buttons, require active intervention. The second largest number of interventions aims to enhance people's memory and includes global positioning systems devices and voice prompts. These technologies mostly target people in the early stages of dementia. A third group focusing on treatment and care delivery emerged from the literature. These interventions focus on technology-aided reminiscence or therapeutic aspects of care for people with dementia and their carers. While the review found a range of technologies available for people with dementia and carers there is very little evidence of widespread practical application. Instead, it appears that stakeholders frequently rely

  7. Gene expression profiling reveals different molecular patterns in G-protein coupled receptor signaling pathways between early- and late-onset preeclampsia.

    Science.gov (United States)

    Liang, Mengmeng; Niu, Jianmin; Zhang, Liang; Deng, Hua; Ma, Jian; Zhou, Weiping; Duan, Dongmei; Zhou, Yuheng; Xu, Huikun; Chen, Longding

    2016-04-01

    Early-onset preeclampsia and late-onset preeclampsia have been regarded as two different phenotypes with heterogeneous manifestations; To gain insights into the pathogenesis of the two traits, we analyzed the gene expression profiles in preeclamptic placentas. A whole genome-wide microarray was used to determine the gene expression profiles in placental tissues from patients with early-onset (n = 7; 36 weeks) preeclampsia and their controls who delivered preterm (n = 5; 36 weeks). Genes were termed differentially expressed if they showed a fold-change ≥ 2 and q-value preeclampsia (177 genes were up-regulated and 450 were down-regulated). Gene ontology analysis identified significant alterations in several biological processes; the top two were immune response and cell surface receptor linked signal transduction. Among the cell surface receptor linked signal transduction-related, differentially expressed genes, those involved in the G-protein coupled receptor protein signaling pathway were significantly enriched. G-protein coupled receptor signaling pathway related genes, such as GPR124 and MRGPRF, were both found to be down-regulated in early-onset preeclampsia. The results were consistent with those of western blotting that the abundance of GPR124 was lower in early-onset compared with late-onset preeclampsia. The different gene expression profiles reflect the different levels of transcription regulation between the two conditions and supported the hypothesis that they are separate disease entities. Moreover, the G-protein coupled receptor signaling pathway related genes may contribute to the mechanism underlying early- and late-onset preeclampsia. Copyright © 2016 Elsevier Ltd. All rights reserved.

  8. Effects of Inhalation Aromatherapy on Symptoms of Sleep Disturbance in the Elderly with Dementia

    Directory of Open Access Journals (Sweden)

    Ai Takeda

    2017-01-01

    Full Text Available This study investigated the effects of inhalation aromatherapy on sleep disturbance in elderly individuals with dementia. In 19 subjects, normal sleep was observed for a 20-day control period, inhalation aromatherapy was then applied for a 20-day intervention period, and the control and intervention periods were compared. During the intervention period, essential oils were placed nightly on towels around the subjects’ pillows. The measured sleep conditions were sleep latency, total sleep time, sleep efficacy, duration of the longest sustained sleep period, wake time after sleep onset, early morning awakening, total daytime sleep, and the Neuropsychiatric Inventory. Total sleep time was significantly longer in the intervention period than in the control period (p<0.05. The duration of the longest sustained sleep period was significantly longer in the intervention period than in the control period (p<0.05. Early morning awakening in the intervention period was significantly less compared to that in the control period (p<0.05. Total daytime sleep could not be adequately measured and was omitted from the analysis. No significant differences in other sleep conditions were observed. These results indicated positive effects of inhalation aromatherapy on symptoms of sleep disturbance in elderly individuals with dementia.

  9. Is early-onset microsatellite and chromosomally stable colorectal cancer a hallmark of a genetic susceptibility syndrome?

    Science.gov (United States)

    Kets, C M; van Krieken, J H J M; van Erp, P E J; Feuth, T; Jacobs, Y H A; Brunner, H G; Ligtenberg, M J L; Hoogerbrugge, N

    2008-02-15

    Most colorectal cancers show either microsatellite or chromosomal instability. A subset of colorectal cancers, especially those diagnosed at young age, is known to show neither of these forms of genetic instability and thus might have a distinct pathogenesis. Colorectal cancers diagnosed at young age are suggestive for hereditary predisposition. We investigate whether such early-onset microsatellite and chromosomally stable colorectal cancers are a hallmark of a genetic susceptibility syndrome. The ploidy status of microsatellite stable (familial) colorectal cancers of patients diagnosed before age 50 (n = 127) was analyzed in relation to the histopathological characteristics and family history. As a control the ploidy status of sporadic colorectal cancer, with normal staining of mismatch repair proteins, diagnosed at the age of 69 years or above (n = 70) was determined. A diploid DNA content was used as a marker for chromosomal stability. Within the group of patients with (familial) early onset microsatellite stable colorectal cancer the chromosomally stable tumors did not differ from chromosomally unstable tumors with respect to mean age at diagnosis, fulfillment of Amsterdam criteria or pathological characteristics. Segregation analysis did not reveal any family with microsatellite and chromosomally stable colorectal cancer in 2 relatives. The prevalence of microsatellite and chromosomally stable colorectal cancer was not significantly different for the early and late onset group (28 and 21%, respectively). We find no evidence that early-onset microsatellite and chromosomally stable colorectal cancer is a hallmark of a hereditary colorectal cancer syndrome. (c) 2007 Wiley-Liss, Inc.

  10. Association between polymorphisms in cancer-related genes and early onset of esophageal adenocarcinoma.

    Science.gov (United States)

    Wu, I-Chen; Zhao, Yang; Zhai, Rihong; Liu, Geoffrey; Ter-Minassian, Monica; Asomaning, Kofi; Su, Li; Liu, Chen-Yu; Chen, Feng; Kulke, Matthew H; Heist, Rebecca S; Christiani, David C

    2011-04-01

    There is an increasing incidence of esophageal adenocarcinoma (EA) among younger people in the western populations. However, the association between genetic polymorphisms and the age of EA onset is unclear. In this study, 1330 functional/tagging single-nucleotide polymorphisms (SNPs) from 354 cancer-related genes were genotyped in 335 white EA patients. Twenty important SNPs that have the highest importance scores and lowest classification error rate were identified by the random forest algorithm to be associated with early onset of EA (age ≤ 55 years). Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2, rs17757541 of BCL2, rs11775256 of TNFRSF10A, rs1035142 of CASP8, rs2236302 of MMP14, rs4740363 of ABL1, rs696217 of GHRL, rs2445762 of CYP19A1, and rs11941492 of VEGFR2/KDR) were significantly associated with early onset of EA (≤55 vs >55 years, all P polymorphisms in cancer-related genes, especially those in the apoptotic pathway, play an important role in the development of younger-aged EA in a dose-response manner.

  11. Evidence for an agitated-aggressive syndrome in early-onset psychosis correlated with antisocial personality disorder, forensic history, and substance use disorder.

    Science.gov (United States)

    Huber, Christian G; Hochstrasser, Lisa; Meister, Klara; Schimmelmann, Benno G; Lambert, Martin

    2016-08-01

    Agitation, aggression, and violence are increased in psychotic disorders. Additionally, an earlier age at onset may be associated with aggressive behavior. However, the relationship of age at onset, an agitated-aggressive syndrome as measured with the Positive And Negative Syndrome Scale for Schizophrenia - Excited Component (PANSS-EC), and its potential correlates in first-episode psychosis (FEP) has not been studied. This study assessed the association between age at onset, an agitated-aggressive syndrome, and its potential correlates in a prospective sample of 52 FEP patients with early-onset and adult-onset followed up for 12months. Twenty-six patients conformed to the criteria of early-onset psychosis. Early age at onset was associated with antisocial personality disorder (p=0.004; φc=0.39), a history of legal involvement (p=0.005; φc=0.39), and higher rates of lifetime substance use disorder (SUD; p=0.002; φc=0.42). Early-onset patients had significantly higher PANSS-EC scores over the course of observation (F(1,44.4)=5.39; p=0.025; d=0.656), but no significant group differences emerged for the remaining PANSS subscores. PANSS-EC scores were correlated positively with antisocial personality disorder and forensic history at 6weeks, 3months, 6months, and 12months, and with lifetime substance use disorder at 3months and 6months. Patients with early onset psychosis may have increased levels of agitation/aggressiveness, and, more likely, antisocial personality disorder, forensic history, and lifetime substance use disorder. These variables were linked to suicidality, aggressiveness, and involuntary treatment. Copyright © 2016 Elsevier B.V. All rights reserved.

  12. Genome-wide identification of blood DNA methylation patterns associated with early-onset hepatocellular carcinoma development in hepatitis B carriers.

    Science.gov (United States)

    Kao, Wei-Yi; Yang, Shu-Han; Liu, Wen-Jie; Yeh, Meng-Yin; Lin, Chih-Lin; Liu, Chun-Jen; Huang, Chi-Jung; Lin, Shi-Ming; Lee, Shou-Dong; Chen, Pei-Jer; Yu, Ming-Whei

    2017-02-01

    The etiology of early-onset hepatocellular carcinoma (HCC) among hepatitis B virus (HBV) carriers remains unclear. DNA methylation levels in peripheral leukocytes have been associated with different environmental exposures and immune or inflammatory response. We aimed to identify methylation signatures of peripheral leukocytes that could track hepatitis B progression to HCC, especially for early-onset HCC. We first performed an epigenome-wide association analysis on 48 matched case-control pairs in a nested case-control study within a 22-yr follow-up cohort of HBV carriers. Through this analysis we found that progression to early-onset HCC involved methylation variable positions across the genome, in which a substantial proportion displayed significant variation due to HBV viral load, chronic hepatitis status, and/or leukocyte subtype composition, and these associations were significantly enriched among genes in immune pathways. Methylation at probes cg00300879, cg06872964, and cg07080864, that are located within the proximal promoter of CNKSR1, IFI44L, and PENK, respectively, was validated by bisulfite pyrosequencing and findings were replicated in a case-sibling study of early-onset HCC (134 cases vs. 174 sibling controls). Furthermore, a high methylation score, constructed using the three probes, was predictive for the risk of early-onset HCC in two datasets (adjusted-odds ratios = 0.21-0.32, P ≤ 0.0206). This association was also observed for late-onset HCC (adjusted-odds ratio = 0.42-0.47, P ≤ 0.0194) in a nested case-control study (120 cases vs. 178 controls). In prospective analysis, change in the score was detected 5-9 yr before HCC onset. Blood-based methylation profiling provides new insights into the complexity of virus-host interaction underlying HBV-related HCC, holding promise for the disease risk management. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  13. The BRCA1 and BRCA2 Genes in Early-Onset Breast Cancer Patients.

    Science.gov (United States)

    Saleem, Mohamed; Ghazali, Mohd Bazli; Wahab, Md Azlan Mohamed Abdul; Yusoff, Narazah Mohd; Mahsin, Hakimah; Seng, Ch'ng Ewe; Khalid, Imran Abdul; Rahman, Mohd Nor Gohar; Yahaya, Badrul Hisham

    2018-04-24

    Approximately 5-10% of breast cancers are attributable to genetic susceptibility. Mutations in the BRCA1 and BRCA2 genes are the best known genetic factors to date. The goal of this study was to determine the structure and distribution of haplotypes of the BRCA1 and BRCA2 genes in early-onset breast cancer patients. We enrolled 70 patients diagnosed with early-onset breast cancer. A total of 21 SNPs (11 on BRCA1 and 10 on BRCA2) and 1 dinucleotide deletion on BRCA1 were genotyped using nested allele-specific PCR methods. Linkage disequilibrium (LD) analysis was conducted, and haplotypes were deduced from the genotype data. Two tightly linked LD blocks were observed on each of the BRCA1 and BRCA2 genes. Variant-free haplotypes (TAT-AG for BRCA1 and ATA-AAT for BRCA2) were observed at a frequency of more than 50% on each gene along with variable frequencies of derived haplotypes. The variant 3'-subhaplotype CGC displayed strong LD with 5'-subhaplotypes GA, AA, and GG on BRCA1 gene. Haplotypes ATA-AGT, ATC-AAT, and ATA-AAC were the variant haplotypes frequent on BRCA2 gene. Although the clinical significance of these derived haplotypes has not yet been established, it is expected that some of these haplotypes, especially the less frequent subhaplotypes, eventually will be shown to be indicative of a predisposition to early-onset breast cancer.

  14. Amnesia in Frontotemporal Dementia with Amyotrophic Lateral Sclerosis, Masquerading Alzheimer’s Disease

    Directory of Open Access Journals (Sweden)

    A. Yamanami-Irioka

    2011-10-01

    Full Text Available A 68-year-old man with a clinical diagnosis of Alzheimer’s disease (AD later developed amyotrophic lateral sclerosis (ALS, which was confirmed at autopsy at age 72 years. Because neuronal loss and AD-type pathologies (Braak stage II for neurofibrillary tangles were scant, TDP-43-positive intracytoplasmic inclusions in hippocampal dentate granular cells and in neurons in the subiculum and amygdala, even though small in amount, may represent the earliest lesions of ALS-related dementia and could be the cause of dementia in this patient. Although the persistent elevation of creatine kinase from the onset could be a pointer to the presence of motor involvement, more accurate characterization of dementia, which may differentiate ALS-related dementia and AD, is necessary.

  15. Cardiac 123I-metaiodobenzylguanidine imaging allows early identification of dementia with Lewy bodies during life

    International Nuclear Information System (INIS)

    Estorch, Montserrat; Camacho, Valle; Paredes, Pilar; Rivera, Elisabet; Rodriguez-Revuelto, Ato; Flotats, Albert; Carrio, Ignasi; Kulisevsky, Jaume

    2008-01-01

    Differential diagnosis between dementia with Lewy bodies (DLB) and other neurodegenerative diseases with cognitive impairment represents a clinical challenge. Due to the overlapping of symptoms, the clinical diagnosis can be modified during the prolonged follow-up of these diseases. The purpose of this study was to assess the ability of cardiac metaiodobenzylguanidine (MIBG) imaging for early identification of DLB. Since January 2003, all patients with neurodegenerative diseases with cognitive impairment at their first visit at the Memory Unit and clinical criteria of DLB were consecutively recruited and underwent a cardiac 123 I-MIBG study. The heart-to-mediastinum ratio (HMR) and the washout rate (WR) of cardiac MIBG uptake were obtained. Sixty-five patients were included. After a clinical follow-up of 4 years, the progress of the disease procured a definite diagnosis in 44 (68%) patients: 19 DLB, 12 Alzheimer disease (AD), and 13 other neurodegenerative diseases with cognitive impairment. HMR was significantly decreased in DLB with respect to the other neurodegenerative diseases. WR was only significantly different between DLB and AD. The HMR cut off point of 1.36 differentiated DLB from the other dementias with a sensitivity of 94% and a specificity of 96% with an accuracy of 95%. Cardiac MIBG imaging performed at the time of the first clinical diagnosis of DLB can help early clinical identification or exclusion of this disease. (orig.)

  16. Early and late onset depression in young and middle aged adults : Differential symptomatology, characteristics and risk factors?

    NARCIS (Netherlands)

    Korten, Nicole C. M.; Comijs, Hannie C.; Lamers, Femke; Penninx, Brenda W. J. H.

    Background: Early onset depression (EOD) and late onset depression (LOD) may be different phenomena. In this study, differences between EOD and LOD in symptomatology, psychiatric characteristics and psychosocial/somatic factors were examined. Methods: Baseline data were from 1104 participants with a

  17. Differential Classification of Dementia

    Directory of Open Access Journals (Sweden)

    E. Mohr

    1995-01-01

    Full Text Available In the absence of biological markers, dementia classification remains complex both in terms of characterization as well as early detection of the presence or absence of dementing symptoms, particularly in diseases with possible secondary dementia. An empirical, statistical approach using neuropsychological measures was therefore developed to distinguish demented from non-demented patients and to identify differential patterns of cognitive dysfunction in neurodegenerative disease. Age-scaled neurobehavioral test results (Wechsler Adult Intelligence Scale—Revised and Wechsler Memory Scale from Alzheimer's (AD and Huntington's (HD patients, matched for intellectual disability, as well as normal controls were used to derive a classification formula. Stepwise discriminant analysis accurately (99% correct distinguished controls from demented patients, and separated the two patient groups (79% correct. Variables discriminating between HD and AD patient groups consisted of complex psychomotor tasks, visuospatial function, attention and memory. The reliability of the classification formula was demonstrated with a new, independent sample of AD and HD patients which yielded virtually identical results (classification accuracy for dementia: 96%; AD versus HD: 78%. To validate the formula, the discriminant function was applied to Parkinson's (PD patients, 38% of whom were classified as demented. The validity of the classification was demonstrated by significant PD subgroup differences on measures of dementia not included in the discriminant function. Moreover, a majority of demented PD patients (65% were classified as having an HD-like pattern of cognitive deficits, in line with previous reports of the subcortical nature of PD dementia. This approach may thus be useful in classifying presence or absence of dementia and in discriminating between dementia subtypes in cases of secondary or coincidental dementia.

  18. A Combined Cognitive Stimulation and Physical Exercise Programme (MINDVital) in Early Dementia: Differential Effects on Single- and Dual-Task Gait Performance.

    Science.gov (United States)

    Tay, Laura; Lim, Wee Shiong; Chan, Mark; Ali, Noorhazlina; Chong, Mei Sian

    2016-01-01

    Gait disorders are common in early dementia, with particularly pronounced dual-task deficits, contributing to the increased fall risk and mobility decline associated with cognitive impairment. This study examines the effects of a combined cognitive stimulation and physical exercise programme (MINDVital) on gait performance under single- and dual-task conditions in older adults with mild dementia. Thirty-nine patients with early dementia participated in a multi-disciplinary rehabilitation programme comprising both physical exercise and cognitive stimulation. The programme was conducted in 8-week cycles with participants attending once weekly, and all participants completed 2 successive cycles. Cognitive, functional performance and behavioural symptoms were assessed at baseline and at the end of each 8-week cycle. Gait speed was examined under both single- (Timed Up and Go and 6-metre walk tests) and dual-task (animal category and serial counting) conditions. A random effects model was performed for the independent effect of MINDVital on the primary outcome variable of gait speed under dual-task conditions. The mean age of patients enroled in the rehabilitation programme was 79 ± 6.2 years; 25 (64.1%) had a diagnosis of Alzheimer's dementia, and 26 (66.7%) were receiving a cognitive enhancer therapy. There was a significant improvement in cognitive performance [random effects coefficient (standard error) = 0.90 (0.31), p = 0.003] and gait speed under both dual-task situations [animal category: random effects coefficient = 0.04 (0.02), p = 0.039; serial counting: random effects coefficient = 0.05 (0.02), p = 0.013], with reduced dual-task cost for gait speed [serial counting: random effects coefficient = -4.05 (2.35), p = 0.086] following successive MINDVital cycles. No significant improvement in single-task gait speed was observed. Improved cognitive performance over time was a significant determinant of changes in dual-task gait speed [random effects coefficients

  19. Dementia literacy in older adults.

    Science.gov (United States)

    Loi, Samantha M; Lautenschlager, Nicola T

    2015-09-01

    With the increasing aging population, it is predicted that there will also be a rise in the number of people with dementia. Although there is no definitive cure, early detection and access to treatment and services remains the cornerstone of management. Misinformation and poor knowledge about dementia may lead to delayed diagnosis. A study of dementia literacy was undertaken to explore current knowledge in a metropolitan city in Australia. A vignette describing an older person with symptoms of cognitive impairment was posted out to volunteers at the local hospital. The majority of participants surveyed correctly identified that the person in the vignette was suffering from symptoms of dementia or cognitive impairment. However, there was more variation with regard to types of treatment available and appropriate help-seeking behavior. Although people are able to identify symptoms of dementia when they are presented in a scenario, the reality is often not as clear. More education to improve knowledge with regard to this increasingly common disorder is required so that appropriate interventions can be made available. © 2014 Wiley Publishing Asia Pty Ltd.

  20. Evaluation of Anosognosia in Alzheimer's Disease Using the Symptoms of Early Dementia-11 Questionnaire (SED-11Q

    Directory of Open Access Journals (Sweden)

    Yohko Maki

    2013-10-01

    Full Text Available Aims: The objective is to propose a brief method to evaluate anosognosia in Alzheimer's disease (AD using the Symptoms of Early Dementia-11 Questionnaire (SED-11Q, a short informant-based screening questionnaire for identifying dementia. Methods: The participants were 107 elderly individuals: 13 with a Clinical Dementia Rating (CDR of 0.5, 73 with mild AD of CDR 1, and 21 with moderate AD of CDR 2. The patients and caregivers answered the SED-11Q independently, and the degree of discrepancy indicated the severity of anosognosia. Results: The scores were as follows: caregiver scores were 2.46 ± 1.85 (mean ± SD in CDR 0.5, 6.36 ± 3.02 in CDR 1, and 9.00 ± 1.14 in CDR 2; patient scores were 2.00 ± 1.78, 2.55 ± 2.33, and 1.33 ± 2.46, respectively. Discrepancy was 0.46 ± 1.61, 3.81 ± 3.95, and 7.67 ± 2.87, respectively, and the caregiver assessments were significantly higher than the patient assessments in CDR 1 and CDR 2 (p Conclusion: The SED-11Q serves a dual purpose: caregiver assessment is useful for the screening of dementia, and any discrepancy between the patient and the caregiver assessment is considered as an indication of the severity of anosognosia; this can be informative for caregivers and essential for successful care.

  1. Extent of Spine Deformity Predicts Lung Growth and Function in Rabbit Model of Early Onset Scoliosis.

    Directory of Open Access Journals (Sweden)

    J Casey Olson

    Full Text Available Early onset deformity of the spine and chest wall (initiated <8 years of age is associated with increased morbidity at adulthood relative to adolescent onset deformity of comparable severity. Presumably, inhibition of thoracic growth during late stage alveolarization leads to an irreversible loss of pulmonary growth and thoracic function; however the natural history of this disease from onset to adulthood has not been well characterized. In this study we establish a rabbit model of early onset scoliosis to establish the extent that thoracic deformity affects structural and functional respiratory development. Using a surgical right unilateral rib-tethering procedure, rib fusion with early onset scoliosis was induced in 10 young New Zealand white rabbits (3 weeks old. Progression of spine deformity, functional residual capacity, total lung capacity, and lung mass was tracked through longitudinal breath-hold computed tomography imaging up to skeletal maturity (28 weeks old. Additionally at maturity forced vital capacity and regional specific volume were calculated as functional measurements and histo-morphometry performed with the radial alveolar count as a measure of acinar complexity. Data from tethered rib rabbits were compared to age matched healthy control rabbits (N = 8. Results show unilateral rib-tethering created a progressive spinal deformity ranging from 30° to 120° curvature, the severity of which was strongly associated with pulmonary growth and functional outcomes. At maturity rabbits with deformity greater than the median (55° had decreased body weight (89%, right (59% and left (86% lung mass, right (74% and left (69% radial alveolar count, right lung volume at total lung capacity (60%, and forced vital capacity (75%. Early treatment of spinal deformity in children may prevent pulmonary complications in adulthood and these results provide a basis for the prediction of pulmonary development from thoracic structure. This model may

  2. The utility of neuroimaging in the management of dementia

    OpenAIRE

    Uduak E Williams; Ekanem E Philip Ephraim; Sidney K Oparah

    2015-01-01

    Dementia is a syndrome of progressive dysfunction of two or more cognitive domains associated with impairment of activities of daily living. An understanding of the pathophysiology of dementia and its early diagnosis is important in the pursuit of possible disease modifying therapy for dementia. Neuroimaging has greatly transformed this field of research as its function has changed from a mere tool for diagnosing treatable causes of demen...

  3. Estimation of diagnostic performance of dementia screening tests: Mini-Mental State Examination, Mini-Cog, Clock Drawing test and Ascertain Dementia 8 questionnaire.

    Science.gov (United States)

    Yang, Li; Yan, Jing; Jin, Xiaoqing; Jin, Yu; Yu, Wei; Xu, Shanhu; Wu, Haibin; Xu, Ying; Liu, Caixia

    2017-05-09

    Dementia is one of the leading causes of dependence in the elderly. This study was conducted to estimate diagnostic performance of dementia screening tests including Mini-Mental State Examination (MMSE), Mini-Cog, Clock Drawing Test (CDT) and Ascertain Dementia 8 questionnaire (AD8) by Bayesian models. A total of 2015 participants aged 65 years or more in eastern China were enrolled. The four screening tests were administered and scored by specifically trained psychiatrists. The prior information of sensitivity and specificity of every screening test was updated via Bayes' theorem to a posterior distribution. Then the results were compared with the estimation based on National Institute of Aging-Alzheimer's Association criteria (NIA-AA). The diagnostic characteristics of Mini-Cog, including sensitivity, specificity, PPV, NPV, especially the Youden index, performed well, even better than the combinations of several screening tests. The Mini-Cog with excellent screening characteristics, spending less time, could be considered to be used as a screening test to help to screen patients with cognitive impairment or dementia early. And Bayesian method was shown to be a suitable tool for evaluating dementia screening tests. The Mini-Cog with excellent screening characteristics, spending less time, could be considered to be used as a screening test to help to screen patients with cognitive impairment or dementia early. And Bayesian method was shown to be a suitable tool for evaluating dementia screening tests.

  4. Forecasting the Incidence of Dementia and Dementia-Related Outpatient Visits With Google Trends: Evidence From Taiwan.

    Science.gov (United States)

    Wang, Ho-Wei; Chen, Duan-Rung; Yu, Hsiao-Wei; Chen, Ya-Mei

    2015-11-19

    Google Trends has demonstrated the capability to both monitor and predict epidemic outbreaks. The connection between Internet searches for dementia information and dementia incidence and dementia-related outpatient visits remains unknown. This study aimed to determine whether Google Trends could provide insight into trends in dementia incidence and related outpatient visits in Taiwan. We investigated and validated the local search terms that would be the best predictors of new dementia cases and outpatient visits. We further evaluated the nowcasting (ie, forecasting the present) and forecasting effects of Google Trends search trends for new dementia cases and outpatient visits. The long-term goal is to develop a surveillance system to help early detection and interventions for dementia in Taiwan. This study collected (1) dementia data from Taiwan's National Health Insurance Research Database and (2) local Internet search data from Google Trends, both from January 2009 to December 2011. We investigated and validated search terms that would be the best predictors of new dementia cases and outpatient visits. We then evaluated both the nowcasting and the forecasting effects of Google Trends search trends through cross-correlation analysis of the dementia incidence and outpatient visit data with the Google Trends data. The search term "dementia + Alzheimer's disease" demonstrated a 3-month lead effect for new dementia cases and a 6-month lead effect for outpatient visits (r=.503, P=.002; r=.431, P=.009, respectively). When gender was included in the analysis, the search term "dementia" showed 6-month predictive power for new female dementia cases (r=.520, P=.001), but only a nowcasting effect for male cases (r=.430, P=.009). The search term "neurology" demonstrated a 3-month leading effect for new dementia cases (r=.433, P=.008), for new male dementia cases (r=.434, P=.008), and for outpatient visits (r=.613, Pdata may allow the health care system in Taiwan to prepare

  5. Deficient maturation of aspects of attention and executive functions in early onset schizophrenia

    DEFF Research Database (Denmark)

    Jepsen, Jens Richardt M; Fagerlund, Birgitte; Pagsberg, Anne Katrine

    2010-01-01

    The few existing long-term, neuropsychological follow-up studies of early onset schizophrenia (EOS) patients have reported relative stability in some cognitive functions but abnormal developmental trajectories in verbal memory, set shifting, aspects of attention, and speed of information processing...

  6. Impulsivity in abstinent early- and late-onset alcoholics : differences in self-report measures and a discounting task

    NARCIS (Netherlands)

    Dom, G.; D'Haene, P.; Hulstijn, W.; Sabbe, B.G.C.

    2006-01-01

    Aims: To test the hypothesis that early-onset alcoholics (EOAs) can be differentiated from late-onset alcoholics (LOAs) by more severe substance-related problems and higher levels of impulsivity and aggression. Design and measurements: A cross-sectional patient survey with a community comparison

  7. Major Vascular Neurocognitive Disorder: A Reappraisal to Vascular Dementia

    Directory of Open Access Journals (Sweden)

    Emre Kumral

    2017-03-01

    Full Text Available Major vascular neurocognitive disorder (NCD is the second leading form of dementia after Alzheimer’s disease, accounting for 17-20% of all dementias. Vascular NCD is a progressive disease caused by reduced cerebral blood flow related to multiple large volume or lacunar infarcts that induce a sudden onset and stepwise decline in cognitive abilities. Despite its prevalence and clinical importance, there is still controversy in the terminology of vascular NCD. Only after the release of Diagnostic and Statistical Manual of Mental Disorders-5 (DSM-5 (2013 did the American Psychiatric Association define vascular dementia as “major vascular NCD”. This review includes an overview of risk factors, pathophysiology, types, diagnostic and clinical features of major vascular NCD, and current treatment options of vascular NCD regarding to DSM-5 criteria

  8. PET studies in dementia

    International Nuclear Information System (INIS)

    Herholz, K.

    2003-01-01

    Measurement of local cerebral glucose metabolism (lCMRGlc) by positron emission tomography (PET) and 18 F-2-fluoro-2-deoxy-D-glucose (FDG) has become a standard technique during the past 20 years and is now available at many university hospitals in all highly developed countries. Many studies have documented a close relation between lCMRGlc and localized cognitive functions, such as language and visuoconstructive abilities. Alzheimer's disease (AD) is characterized by regional impairment of cerebral glucose metabolism in neocortical association areas (posterior cingulate, temporoparietal and frontal multimodal association cortex), whereas primary visual and sensorimotor cortex, basal ganglia, and cerebellum are relatively well preserved. In a multicenter study comprising 10 PET centers (Network for Efficiency and Standardization of Dementia Diagnosis, NEST-DD) that employed an automated voxel-based analysis of FDG PET images, the distinction between controls and AD patients was 93% sensitive and 93% specific, and even in very mild dementia (at Mini Mental Status Examination (MMSE) 24 or higher) sensitivity was still 84% at 93% specificity. Significantly abnormal metabolism in mild cognitive deficit (MCI) indicates a high risk to develop dementia within the next two years. Reduced neocortical glucose metabolism can probably be detected with FDG PET in AD on average one year before onset of subjective cognitive impairment. In addition to glucose metabolism, specific tracers for dopamine synthesis ( 18 F-F-DOPA) and for ( 11 C-MP4A) are of interest for differentiation among dementia subtypes. Cortical acetylcholine esterase activity (AChE) activity is significantly lower in patients with AD or with dementia with Lewy bodies (DLB) than in age-matched normal controls. In LBD there is also impairment of dopamine synthesis, similar to Parkinson disease. (author) 115 refs

  9. PET studies in dementia

    Energy Technology Data Exchange (ETDEWEB)

    Herholz, K. [Neurologische Universitaetsklinik and Max-Planck-Inst. fuer neurologische Forschung, Koeln (Germany)

    2003-04-01

    Measurement of local cerebral glucose metabolism (lCMRGlc) by positron emission tomography (PET) and {sup 18}F-2-fluoro-2-deoxy-D-glucose (FDG) has become a standard technique during the past 20 years and is now available at many university hospitals in all highly developed countries. Many studies have documented a close relation between lCMRGlc and localized cognitive functions, such as language and visuoconstructive abilities. Alzheimer's disease (AD) is characterized by regional impairment of cerebral glucose metabolism in neocortical association areas (posterior cingulate, temporoparietal and frontal multimodal association cortex), whereas primary visual and sensorimotor cortex, basal ganglia, and cerebellum are relatively well preserved. In a multicenter study comprising 10 PET centers (Network for Efficiency and Standardization of Dementia Diagnosis, NEST-DD) that employed an automated voxel-based analysis of FDG PET images, the distinction between controls and AD patients was 93% sensitive and 93% specific, and even in very mild dementia (at Mini Mental Status Examination (MMSE) 24 or higher) sensitivity was still 84% at 93% specificity. Significantly abnormal metabolism in mild cognitive deficit (MCI) indicates a high risk to develop dementia within the next two years. Reduced neocortical glucose metabolism can probably be detected with FDG PET in AD on average one year before onset of subjective cognitive impairment. In addition to glucose metabolism, specific tracers for dopamine synthesis ({sup 18}F-F-DOPA) and for ({sup 11}C-MP4A) are of interest for differentiation among dementia subtypes. Cortical acetylcholine esterase activity (AChE) activity is significantly lower in patients with AD or with dementia with Lewy bodies (DLB) than in age-matched normal controls. In LBD there is also impairment of dopamine synthesis, similar to Parkinson disease. (author) 115 refs.

  10. Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson's Disease

    Directory of Open Access Journals (Sweden)

    Karla Cristina Vasconcelos Moura

    2013-01-01

    Full Text Available Parkinson's disease is the second most frequent neurodegenerative disorder in the world, affecting 1-2% of individuals over the age of 65. The etiology of Parkinson's disease is complex, with the involvement of gene-environment interactions. Although it is considered a disease of late manifestation, early-onset forms of parkinsonism contribute to 5–10% of all cases. In the present study, we screened mutations in coding regions of PARK2 and PINK1 genes in 136 unrelated Brazilian patients with early-onset Parkinson's disease through automatic sequencing. We identified six missense variants in PARK2 gene: one known pathogenic mutation, two variants of uncertain role, and three nonpathogenic changes. No pathogenic mutation was identified in PINK1 gene, only benign polymorphisms. All putative pathogenic variants found in this study were in heterozygous state. Our data show that PARK2 point mutations are more common in Brazilian early-onset Parkinson's disease patients (2.9% than PINK1 missense variants (0%, corroborating other studies worldwide.

  11. Problem drinking among Flemish students: beverage type, early drinking onset and negative personal & social consequences.

    Science.gov (United States)

    De Bruyn, Sara; Wouters, Edwin; Ponnet, Koen; Van Damme, Joris; Maes, Lea; Van Hal, Guido

    2018-02-12

    Although alcohol is socially accepted in most Western societies, studies are clear about its associated negative consequences, especially among university and college students. Studies on the relationship between alcohol-related consequences and both beverage type and drinking onset, however, are scarce, especially in a European context. The aim of this research was, therefore, twofold: (1) What is the relationship between beverage type and the negative consequences experienced by students? and (2) Are these consequences determined by early drinking onset? We will examine these questions within the context of a wide range of alcohol-related consequences. The analyses are based on data collected by the inter-university project 'Head in the clouds?', measuring alcohol use among students in Flanders (Belgium). In total, a large dataset consisting of information from 19,253 anonymously participating students was available. Negative consequences were measured using a shortened version of the Core Alcohol and Drug Survey (CADS_D). Data were analysed using negative binomial regression. Results vary depending on the type of alcohol-related consequences: Personal negative consequences occur frequently among daily beer drinkers. However, a high rate of social negative consequences was recorded for both daily beer drinkers and daily spirits drinkers. Finally, early drinking onset was significantly associated with both personal and social negative consequences, and this association was especially strong between beer and spirits drinking onset and social negative consequences. Numerous negative consequences, both personal and social, are related to frequent beer and spirits drinking. Our findings indicate a close association between drinking beer and personal negative consequences as well as between drinking beer and/or spirits and social negative consequences. Similarly, early drinking onset has a major influence on the rates of both personal and social negative consequences

  12. Early onset of coronary artery disease after prenatal exposure to the Dutch famine

    NARCIS (Netherlands)

    Painter, Rebecca C.; de Rooij, Susanne R.; Bossuyt, Patrick M.; Simmers, Timothy A.; Osmond, Clive; Barker, David J.; Bleker, Otto P.; Roseboom, Tessa J.

    2006-01-01

    BACKGROUND: Limited evidence suggests that maternal undernutrition at the time of conception is associated with increased cardiovascular disease risk in adult offspring. OBJECTIVE: We investigated whether persons conceived during the Dutch famine of World War II had an early onset of coronary artery

  13. First trimester screening for intra-uterine growth restriction and early-onset pre-eclampsia

    NARCIS (Netherlands)

    Vandenberghe, G.; Mensink, I.; Twisk, J.W.; Blankenstein, M.A.; Heijboer, A.C.; van Vugt, J.M.

    2011-01-01

    Objective: To assess first trimester placental growth factor (PlGF) and pregnancy-associated plasma protein-A (PAPP-A) as screening markers for early-onset pre-eclampsia (PE) and intra-uterine growth restriction (IUGR). Methods: PlGF concentration was retrospectively measured in first trimester

  14. Do rapid BMI growth in childhood and early-onset obesity offer cardiometabolic protection to obese adults in mid-life?

    DEFF Research Database (Denmark)

    Howe, Laura D; Zimmermann, Esther; Weiss, Ram

    2014-01-01

    BMI growth (7-13 years) using a multilevel model. Early-onset obesity was defined as obesity at examination for national service. OUTCOME MEASUREMENT: We defined metabolic health at the mid-life clinic as non-fasting serum cholesterol fasting glucose ...OBJECTIVE: Some obese individuals have no cardiometabolic abnormalities; they are 'metabolically healthy, but obese' (MHO). Similarly, some non-obese individuals have cardiometabolic abnormalities, that is, 'metabolically at risk, normal weight' (MANW). Previous studies have suggested that early......-onset obesity may be associated with MHO. We aimed to assess whether body mass index (BMI) in childhood and early-onset obesity are associated with MHO. SETTING: General population longitudinal cohort study, Denmark. PARTICIPANTS: From 362 200 young men (mean age 20) examined for Danish national service between...

  15. Antioxidants and Dementia Risk: Consideration through a Cerebrovascular Perspective

    Directory of Open Access Journals (Sweden)

    Virginie Lam

    2016-12-01

    Full Text Available A number of natural and chemical compounds that exert anti-oxidative properties are demonstrated to be beneficial for brain and cognitive function, and some are reported to reduce the risk of dementia. However, the detailed mechanisms by which those anti-oxidative compounds show positive effects on cognition and dementia are still unclear. An emerging body of evidence suggests that the integrity of the cerebrovascular blood-brain barrier (BBB is centrally involved in the onset and progression of cognitive impairment and dementia. While recent studies revealed that some anti-oxidative agents appear to be protective against the disruption of BBB integrity and structure, few studies considered the neuroprotective effects of antioxidants in the context of cerebrovascular integrity. Therefore, in this review, we examine the mechanistic insights of antioxidants as a pleiotropic agent for cognitive impairment and dementia through a cerebrovascular axis by primarily focusing on the current available data from physiological studies. Conclusively, there is a compelling body of evidence that suggest antioxidants may prevent cognitive decline and dementia by protecting the integrity and function of BBB and, indeed, further studies are needed to directly examine these effects in addition to underlying molecular mechanisms.

  16. Prevalence of Pain in Nursing Home Residents: The Role of Dementia Stage and Dementia Subtypes.

    Science.gov (United States)

    van Kooten, Janine; Smalbrugge, Martin; van der Wouden, Johannes C; Stek, Max L; Hertogh, Cees M P M

    2017-06-01

    To study pain prevalence, pain type, and its pharmacological treatment in Dutch nursing home residents in relation to dementia subtype and dementia severity. Data were collected as part of the PAINdemiA study, an observational cross-sectional study conducted between May 2014 and December 2015. Ten nursing homes in the Netherlands. A total of 199 nursing home residents in various stages of dementia. We collected data on pain (by observation: MOBID-2 Pain Scale and by self-report scales), pain type, pain medication, dementia subtype, dementia severity (GDS), and demographic features. In the whole sample, the prevalence of pain was 43% (95% confidence interval 36%-50%) using the MOBID-2 Pain Scale. Regardless of regularly scheduled analgesics, approximately one-third of the residents with pain suffered from moderate to severe pain. Pain assessment with the MOBID-2 Pain Scale showed no difference in pain between dementia subtypes, but residents with more severe dementia experienced pain more often than those with less severe dementia (27% vs 15%). The prevalence of self-reported pain was significantly higher in residents with vascular dementia (VaD) (54%) compared with those with Alzheimer disease (18%) and other dementia subtypes (14%). Nociceptive pain was the predominant type of pain (72%) followed by mixed pain (25%). Acetaminophen was the most prescribed analgesic (80%). Most of the participating nursing home residents had no pain; however, pain was observed more often in residents with severe dementia, whereas residents in the early stages of VaD self-reported pain more often that those with other dementia subtypes. As one-third of the residents with clinically relevant pain had moderate to severe pain regardless of using pain medication, more focus should be on how pain management could use more tailored approaches and be regularly adjusted to individual needs. Copyright © 2017 AMDA – The Society for Post-Acute and Long-Term Care Medicine. Published by

  17. Prevalence of Comorbidity in Patients With Young-Onset Alzheimer Disease Compared With Late-Onset: A Comparative Cohort Study.

    Science.gov (United States)

    Gerritsen, Adrie A J; Bakker, Christian; Verhey, Frans R J; de Vugt, Marjolein E; Melis, René J F; Koopmans, Raymond T C M

    2016-04-01

    With the lack of a cure for Alzheimer disease (AD), the identification of comorbidity is important to reduce the possibility of excess disability. Although comorbidity in patients with late-onset AD (LO-AD) is common, for people with young-onset AD (YO-AD), it is unclear how often comorbidity occurs. Furthermore, it is uncertain whether comorbidity in patients with YO-AD differs from that in patients with LO-AD. The aim of this study was to explore the prevalence, types of morbidity, and morbidity profiles in patients with YO-AD compared with those of patients with LO-AD. Explorative cohort study from 2 separate Dutch cohorts (Needs in Young-onset Dementia [NeedYD] and the Clinical Course of Cognition and Comorbidity-Dementia Study [4C-Dementia study]). Participants were recruited in 2007 and 2008 from (1) the memory clinics of 3 Dutch Alzheimer centers, (2) the memory clinics of general hospitals, (3) mental health services in the southern part of the Netherlands, and (4) young-onset dementia specialized day care facilities. A comparison group of community-dwelling, elderly patients with AD was selected from the 4C-Dementia study. Patients in this study were recruited in 2010 and 2011 from the aforementioned Alzheimer centers. The prevalence rates of comorbidity were compared between 177 patients with YO-AD and 155 patients with LO-AD. Comorbidity was classified using the International Classification of Diseases, 10th Revision (ICD-10). The total amount of comorbidity was established by counting the number of existing diseases (ICD categories or chapters) and comorbidity was also dichotomized as present or absent. Furthermore, a hierarchical cluster analysis was performed to study clusters of comorbidity. Compared with LO-AD, patients with YO-AD showed less (P < .001) overall comorbidity (58.2% vs 86.5%) and had lower prevalence rates of diabetes, obesity, and circulatory diseases; however, the prevalence rates of diseases of the nervous system in YO-AD (6

  18. First trimester screening for intra-uterine growth restriction and early-onset pre-eclampsia

    NARCIS (Netherlands)

    Vandenberghe, G.; Mensink, I.; Twisk, J. W. R.; Blankenstein, M. A.; Heijboer, A. C.; van Vugt, J. M. G.

    2011-01-01

    To assess first trimester placental growth factor (PlGF) and pregnancy-associated plasma protein-A (PAPP-A) as screening markers for early-onset pre-eclampsia (PE) and intra-uterine growth restriction (IUGR). PlGF concentration was retrospectively measured in first trimester serum specimens of 23

  19. Early-Onset Thrombocytopenia in Small-For-Gestational-Age Neonates: A Retrospective Cohort Study

    NARCIS (Netherlands)

    Fustolo-Gunnink, S. F.; Vlug, R. D.; Smits-Wintjens, V. E. H. J.; Heckman, E. J.; te Pas, A. B.; Fijnvandraat, K.; Lopriore, E.

    2016-01-01

    Thrombocytopenia is a common finding in small for gestational age (SGA) neonates and is thought to result from a unique pathophysiologic mechanism related to chronic intrauterine hypoxia. Our objective was to estimate the incidence and severity of early-onset thrombocytopenia in SGA neonates, and to

  20. Is There a Characteristic Clinical Profile for Patients with Dementia and Sundown Syndrome?

    Science.gov (United States)

    Angulo Sevilla, David; Carreras Rodríguez, María Teresa; Heredia Rodríguez, Patricia; Fernández Sánchez, Marisa; Vivancos Mora, José Aurelio; Gago-Veiga, Ana Beatriz

    2018-01-01

    Sundown syndrome (SS) is the onset or worsening of behavioral symptoms in the evening in patients with dementia. To identify the differential clinical profile of patients with dementia who present SS. A cross-sectional, case-control observational study was conducted by retrospectively reviewing the medical records of patients with dementia in a specialized Memory Unit. We compared the characteristics of patients with and without SS, including sociodemographic variables, etiology, and severity of the dementia, behavioral symptoms, sleep disorders (considering insomnia and hypersomnia), other diseases and treatments employed. We identified the factors related to SS and conducted a logistic regression analysis to establish a predictive nomogram. Of the 216 study patients with dementia, 41 (19%) had SS. There was a predominance of women (2.4:1), advanced age (p = 0.0001), dependence (p patients with dementia, with a predictive capacity of 80.1%. In our study, age, a higher score on the GDS, and the presence of insomnia or hypersomnia are differential clinical characteristics of patients with SS. We defined a nomogram that helps predicting the occurrence of SS in patients with dementia.

  1. An Investigation of the Utility of the Addenbrooke's Cognitive Examination III in the Early Detection of Dementia in Memory Clinic Patients Aged over 75 Years.

    Science.gov (United States)

    Jubb, Michael T; Evans, Jonathan J

    2015-01-01

    To examine the validity of Addenbrooke's Cognitive Examination III (ACE-III) in detecting early dementia in UK memory clinic patients aged 75-85 years. The ACE-III was administered to 59 patients prior to diagnosis. The extent to which scores predicted the membership of the dementia or no-dementia group was explored using receiver operating characteristic curve analysis and other parameters of diagnostic performance. Thirty-three participants (55.9%) were diagnosed with dementia (Alzheimer's disease = 56.3%, Alzheimer's disease with cerebrovascular disease = 31.3%, and vascular dementia = 12.5%). The optimal cut-off for detecting dementia was 81/100 (scores <81 indicating dementia with a sensitivity of 0.79, a specificity of 0.96, and a positive predictive value of 0.96), with superiority over published cut-offs (88/100 and 82/100) at medium and lower prevalence rates. The number of years of full-time education had a significant positive relationship to total ACE-III scores (r = 0.697, p < 0.001) for the no-dementia group. Exploratory analysis indicated that optimal cut-offs were different for higher versus lower education groups. The ACE-III has excellent accuracy for the detection of dementia in day-to-day clinical practice. Lower cut-offs than those specified in the index paper, and the consideration of the patients' years of full-time education may be necessary for optimal diagnostic performance. © 2015 S. Karger AG, Basel.

  2. Parental and Child Characteristics Related to Early-Onset Disordered Eating

    DEFF Research Database (Denmark)

    Larsen, Pernille Stemann; Strandberg-Larsen, Katrine; Micali, Nadia

    2015-01-01

    the following: higher body weight, previously reported disordered eating, body dissatisfaction, depression, parental disordered eating, and parental comments/concerns about child's weight and eating. The findings were inconsistent for sex, age, socioeconomic status, ethnicity, self-esteem/worth, and parental......-four studies fit these criteria. Most studies were based on community samples with a cross-sectional design. The included studies varied considerably in size, instruments used to assess early-onset disordered eating, and parental and child characteristics investigated. Important determinants included...

  3. The role of functional imaging techniques in the dementia

    International Nuclear Information System (INIS)

    Ryu, Young Hoon

    2004-01-01

    Evaluation of dementia in patients with early symptoms of cognitive decline is clinically challenging, but the need for early, accurate diagnosis has become more crucial, since several medication for the treatment of mild to moderate Alzheimer' disease are available. Many neurodegenerative diseases produce significant brain function alteration even when structural imaging (CT of MRI) reveal no specific abnormalities. The role of PET and SPECT brain imaging in the initial assessment and differential diagnosis of dementia is beginning to evolve rapidly and growing evidence indicates that appropriate incorporation of PET into the clinical work up can improve diagnostic and prognostic accuracy with respect to Alzheimer's disease, the most common cause of dementia in the geriatric population. In the fast few years, studies comparing neuropathologic examination with PET have established reliable and consistent accuracy for diagnostic evaluations using PET - accuracies substantially exceeding those of comparable studies of diagnostic value of SPECT or of both modalities assessed side by side, or of clinical evaluations done without nuclear imaging. This review deals the role of functional brian imaging techniques in the evaluation of dementias and the role of nuclear neuroimaging in the early detection and diagnosis of Alzheimer's disease

  4. Cerebrospinal Fluid Biomarkers in Familial Forms of Alzheimer's Disease and Frontotemporal Dementia

    DEFF Research Database (Denmark)

    Rostgaard, Nina; Waldemar, Gunhild; Nielsen, Jørgen Erik

    2015-01-01

    As dementia is a fast-growing health care problem, it is becoming an increasingly urgent need to provide an early diagnosis in order to offer patients the best medical treatment and care. Validated biomarkers which reflect the pathology and disease progression are essential for diagnosis and are ......As dementia is a fast-growing health care problem, it is becoming an increasingly urgent need to provide an early diagnosis in order to offer patients the best medical treatment and care. Validated biomarkers which reflect the pathology and disease progression are essential for diagnosis...... and are important when developing new therapies. Today, the core protein biomarkers amyloid-β42, total tau and phosphorylated tau in the cerebrospinal fluid (CSF) are used to diagnose Alzheimer's disease (AD), because these biomarkers have shown to reflect the underlying amyloid and tau pathology. However......, the biomarkers have proved insufficient predictors of dementias with a different pathology, e.g. frontotemporal dementia (FTD); furthermore, the biomarkers are not useful for early AD diagnosis. Familial dementias with a known disease-causing mutation can be extremely valuable to study; yet the biomarker...

  5. Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.

    Science.gov (United States)

    Mei, Davide; Marini, Carla; Novara, Francesca; Bernardina, Bernardo D; Granata, Tiziana; Fontana, Elena; Parrini, Elena; Ferrari, Anna R; Murgia, Alessandra; Zuffardi, Orsetta; Guerrini, Renzo

    2010-04-01

    Mutations of the X-linked gene cyclin-dependent kinase-like 5 (CDKL5) cause an X-linked encephalopathy with early onset intractable epilepsy, including infantile spasms and other seizure types, and a Rett syndrome (RTT)-like phenotype. Very limited information is available on the frequency and phenotypic spectrum associated with CDKL5 deletions/duplications. We investigated the role of CDKL5 deletions/duplications in causing early onset intractable epilepsy of unknown etiology in girls. We studied 49 girls with early onset intractable epilepsy, with or without infantile spasms, and developmental impairment, for whom no etiologic factors were obvious after clinical examination, brain magnetic resonance imaging (MRI) and expanded screening for inborn errors of metabolism. We performed CDKL5 gene mutation analysis in all and multiplex ligation dependent probe amplification assay (MLPA) in those who were mutation negative. Custom Array-comparative genomic hybridization (CGH), breakpoint polymerase chain reaction (PCR) analysis, and X-inactivation studies were performed in patients in whom MLPA uncovered a genomic alteration. We found CDKL5 mutations in 8.2% (4 of 49) of patients and genomic deletions in 8.2% (4 of 49). Overall, abnormalities of the CDKL5 gene accounted for 16.3% (8 of 49) of patients. CDKL5 gene deletions are an under-ascertained cause of early onset intractable epilepsy in girls. Genetic testing of CDKL5, including both mutation and deletion/duplication analysis, should be considered in this clinical subgroup.

  6. Motor and non-motor symptoms in old-age onset Parkinson's disease patients.

    Science.gov (United States)

    Mendonça, Marcelo D; Lampreia, Tania; Miguel, Rita; Caetano, André; Barbosa, Raquel; Bugalho, Paulo

    2017-07-01

    Advancing age is a well-known risk factor for Parkinson's disease (PD). With population ageing it is expected that the total number of patients with PD onset at oldage increases. Information on the motor but particularly on non-motor phenotype of this late-onset population is lacking. We recruited 24 patients with PD onset at or over 75 years. Each patient was matched with 1 control patient with PD onset between the ages of 40 and 65 and matched for disease duration. Both groups were assessed with the UPDRS, the Non-motor symptoms scale (NMSS) and other scales to assess non-motor symptoms. Groups were compared with conditional logistic regression analysis. Old-age onset PD was, on average, 80 years at the time of PD onset while middle-age onset were 59. Disease duration was approximately 5 years in both groups. While no difference was observed in the total UPDRS-III scores, old-age onset PD was associated with higher axial symptoms (7.42 vs. 4.63, p = 0.011) and a higher frequency of dementia (7/24 vs. 0/24, p = 0.009). While no difference in the total number of non-motor symptoms was observed (6.79 vs. 6.22, p = 0.310), old-age onset patients had a higher prevalence of gastrointestinal symptoms (20/24 vs. 12/24, p = 0.037). For the same disease duration, older age onset is associated with worse axial motor dysfunction and dementia in PD patients. Beside gastrointestinal symptoms, non-motor symptoms are not associated with age.

  7. Thyroid peroxidase antibodies during early gestation and the subsequent risk of first-onset postpartum depression: A prospective cohort study.

    Science.gov (United States)

    Wesseloo, Richard; Kamperman, Astrid M; Bergink, Veerle; Pop, Victor J M

    2018-01-01

    During the postpartum period, women are at risk for the new onset of both auto-immune thyroid disorders and depression. The presence of thyroid peroxidase antibodies (TPO-ab) during early gestation is predictive for postpartum auto-immune thyroid dysfunction. The aim of this study was to investigate the association between TPO-ab status during early gestation and first-onset postpartum depression. Prospective cohort study (n = 1075) with follow-up during pregnancy up to one year postpartum. Thyroid function and TPO-ab status were measured during early gestation. Depressive symptomatology was assessed during each trimester and at four time points postpartum with the Edinburgh Depression Scale (EDS). Women with antenatal depression were not eligible for inclusion. Self-reported postpartum depression was defined with an EDS cut-off of ≥ 13. The cumulative incidence of self-reported first-onset depression in the first postpartum year was 6.3%. A positive TPO-ab status was associated with an increased risk for self-reported first-onset depression at four months postpartum (adjusted OR 3.8; 95% CI 1.3-11.6), but not at other postpartum time points. Prevalence rates of self-reported postpartum depression declined after four months postpartum in the TPO-ab positive group, but remained constant in the TPO-ab negative group. Depression was defined with a self-rating questionnaire (EDS). Women with an increased TPO-ab titer during early gestation are at increased risk for self-reported first-onset depression. The longitudinal pattern of self-reported postpartum depression in the TPO-ab positive group was similar to the typical course of postpartum TPO-ab titers changes. This suggests overlap in the etiology of first-onset postpartum depression and auto-immune thyroid dysfunction. Thyroid function should be evaluated in women with first-onset postpartum depression. Copyright © 2017 Elsevier B.V. All rights reserved.

  8. The impact of bilingualism on brain reserve and metabolic connectivity in Alzheimer's dementia

    OpenAIRE

    Perani, Daniela; Farsad, Mohsen; Ballarini, Tommaso; Lubian, Francesca; Malpetti, Maura; Fracchetti, Alessandro; Magnani, Giuseppe; March, Albert; Abutalebi, Jubin

    2017-01-01

    Cognitive reserve (CR) prevents cognitive decline and delays neurodegeneration. Recent epidemiological evidence suggests that lifelong bilingualism may act as CR delaying the onset of dementia by ∼4.5 y. Much controversy surrounds the issue of bilingualism and its putative neuroprotective effects. We studied brain metabolism, a direct index of synaptic function and density, and neural connectivity to shed light on the effects of bilingualism in vivo in Alzheimer's dementia (AD). Eighty-five p...

  9. Early-stage differentiation between presenile Alzheimer's disease and frontotemporal dementia using arterial spin labeling MRI

    Energy Technology Data Exchange (ETDEWEB)

    Steketee, Rebecca M.E.; Meijboom, Rozanna; Lugt, Aad van der; Smits, Marion [Erasmus MC - University Medical Center, Department of Radiology, PO Box 2040, Rotterdam (Netherlands); Bron, Esther E.; Klein, Stefan [Erasmus MC - University Medical Center, Biomedical Imaging Group Rotterdam, Departments of Medical Informatics and Radiology, PO Box 2040, Rotterdam (Netherlands); Houston, Gavin C. [GE Healthcare, Hatfield (United Kingdom); Mutsaerts, Henri J.M.M. [Academic Medical Center, Department of Radiology, PO Box 22660, Amsterdam (Netherlands); Mendez Orellana, Carolina P. [Erasmus MC - University Medical Center, Department of Radiology, PO Box 2040, Rotterdam (Netherlands); Erasmus MC - University Medical Center, Department of Neurology, PO Box 2040, Rotterdam (Netherlands); Jong, Frank Jan de; Swieten, John C. van [Erasmus MC - University Medical Center, Department of Neurology, PO Box 2040, Rotterdam (Netherlands)

    2016-01-15

    To investigate arterial spin labeling (ASL)-MRI for the early diagnosis of and differentiation between the two most common types of presenile dementia: Alzheimer's disease (AD) and frontotemporal dementia (FTD), and for distinguishing age-related from pathological perfusion changes. Thirteen AD and 19 FTD patients, and 25 age-matched older and 22 younger controls underwent 3D pseudo-continuous ASL-MRI at 3 T. Gray matter (GM) volume and cerebral blood flow (CBF), corrected for partial volume effects, were quantified in the entire supratentorial cortex and in 10 GM regions. Sensitivity, specificity and diagnostic performance were evaluated in regions showing significant CBF differences between patient groups or between patients and older controls. AD compared with FTD patients had hypoperfusion in the posterior cingulate cortex, differentiating these with a diagnostic performance of 74 %. Compared to older controls, FTD patients showed hypoperfusion in the anterior cingulate cortex, whereas AD patients showed a more widespread regional hypoperfusion as well as atrophy. Regional atrophy was not different between AD and FTD. Diagnostic performance of ASL to differentiate AD or FTD from controls was good (78-85 %). Older controls showed global hypoperfusion compared to young controls. ASL-MRI contributes to early diagnosis of and differentiation between presenile AD and FTD. (orig.)

  10. Early-stage differentiation between presenile Alzheimer's disease and frontotemporal dementia using arterial spin labeling MRI

    International Nuclear Information System (INIS)

    Steketee, Rebecca M.E.; Meijboom, Rozanna; Lugt, Aad van der; Smits, Marion; Bron, Esther E.; Klein, Stefan; Houston, Gavin C.; Mutsaerts, Henri J.M.M.; Mendez Orellana, Carolina P.; Jong, Frank Jan de; Swieten, John C. van

    2016-01-01

    To investigate arterial spin labeling (ASL)-MRI for the early diagnosis of and differentiation between the two most common types of presenile dementia: Alzheimer's disease (AD) and frontotemporal dementia (FTD), and for distinguishing age-related from pathological perfusion changes. Thirteen AD and 19 FTD patients, and 25 age-matched older and 22 younger controls underwent 3D pseudo-continuous ASL-MRI at 3 T. Gray matter (GM) volume and cerebral blood flow (CBF), corrected for partial volume effects, were quantified in the entire supratentorial cortex and in 10 GM regions. Sensitivity, specificity and diagnostic performance were evaluated in regions showing significant CBF differences between patient groups or between patients and older controls. AD compared with FTD patients had hypoperfusion in the posterior cingulate cortex, differentiating these with a diagnostic performance of 74 %. Compared to older controls, FTD patients showed hypoperfusion in the anterior cingulate cortex, whereas AD patients showed a more widespread regional hypoperfusion as well as atrophy. Regional atrophy was not different between AD and FTD. Diagnostic performance of ASL to differentiate AD or FTD from controls was good (78-85 %). Older controls showed global hypoperfusion compared to young controls. ASL-MRI contributes to early diagnosis of and differentiation between presenile AD and FTD. (orig.)

  11. Thought and language disorders in very early onset schizophrenia, schizoaffective disorder and bipolar disorder

    Directory of Open Access Journals (Sweden)

    Telma Pantano

    Full Text Available Abstract Background Thought and language disorders are main features of adults with schizophrenia and bipolar disorders however studies on such abnormalities are scant in young patients with very early onset psychosis (VEOS. The aim of the present study is to assess the relationship between language and thought disorders in patients with very early onset schizophrenia (SCZ, schizoaffective disorders (SCA and bipolar disorders (BD. Method Forty-one patients (18 SCZ, 16 BD, and 7 SCA with mean age less than 15 years old were assessed through a series of neurocognitive and psycholinguistic tests, including the Thought, Language and Communication Scale (TLC. Results SCZ group performed worse in all tests as well as the TLC, followed by SCA and BD groups respectively. Thought disorders were related to deficits in executive functioning and semantic processing, and the metaphors’ test was the best predictor of TLC functioning. Discussion TD in SCZ, SCA and BD are one of the most important features in patients with VEOS and that the evaluation of metaphor comprehension can be an important instrument in the early detection of this disorder.

  12. Impact of Dementia-Derived Nonpharmacological Intervention Procedures on Cognition and Behavior in Older Adults with Intellectual Disabilities: A 3-Year Follow-Up Study

    Science.gov (United States)

    De Vreese, Luc P.; Mantesso, Ulrico; De Bastiani, Elisa; Weger, Elisabeth; Marangoni, Annachiara C.; Gomiero, Tiziano

    2012-01-01

    Dementia appears at a higher rate among some adults with intellectual disabilities (ID) and this potentially poses a greater risk of nursing home admission. Yet, to date, there is no evidence on the efficacy of general dementia-derived environment-, personnel-, and patient-oriented intervention strategies in delaying onset of dementia or in…

  13. Early Cannabis Use and Estimated Risk of Later Onset of Depression Spells : Epidemiologic Evidence From the Population-based World Health Organization World Mental Health Survey Initiative

    NARCIS (Netherlands)

    de Graaf, R.; Radovanovic, M.; van Laar, M.; Fairman, B.; Degenhardt, L.; Aguilar-Gaxiola, S.; Bruffaerts, R.; De Girolamo, G.; Fayyad, J.; Gureje, O.; Haro, J.M.; Huang, Y.Q.; Kostychenko, S.; Lepine, J.P.; Matschinger, H.; Mora, M.E.M.; Neumark, Y.; Ormel, J.; Posada-Villa, J.; Stein, D.J.; Tachimori, H.; Wells, J.E.; Anthony, J.C.

    2010-01-01

    Early-onset cannabis use is widespread in many countries and might cause later onset of depression. Sound epidemiologic data across countries are missing. The authors estimated the suspected causal association that links early-onset (age <17 years) cannabis use with later-onset (age >= 17 years)

  14. Dementia with non-hereditary cystatin C angiopathy

    DEFF Research Database (Denmark)

    Benedikz, Eirikur; Blöndal, H; Jóhannesson, G

    1989-01-01

    Brain biopsies from two patients with non-hereditary cerebral hemorrhages and eighty autopsied cases with the clinical diagnosis of dementia are presented. The biopsied cases, both males aged 64 and 59, had a sudden onset of cerebral hemorrhage, mild progressive dementia and cystatin C cerebral...... amyloid angiopathy. Of the autopsied cases 59 had senile plaques and cerebral amyloid angiopathy was also found in 36 of them. Both senile plaques and the blood vessel amyloid stained positively with beta-protein antibodies, and five of them also showed a positive reaction to cystatin C antibodies....... These cystatin C positive cases were three males aged 76, 80 and 83, and one female 93 years old and the fifth case was a female aged 47 with Down's syndrome....

  15. GATA2 is associated with familial early-onset coronary artery disease.

    Directory of Open Access Journals (Sweden)

    Jessica J Connelly

    2006-08-01

    Full Text Available The transcription factor GATA2 plays an essential role in the establishment and maintenance of adult hematopoiesis. It is expressed in hematopoietic stem cells, as well as the cells that make up the aortic vasculature, namely aortic endothelial cells and smooth muscle cells. We have shown that GATA2 expression is predictive of location within the thoracic aorta; location is suggested to be a surrogate for disease susceptibility. The GATA2 gene maps beneath the Chromosome 3q linkage peak from our family-based sample set (GENECARD study of early-onset coronary artery disease. Given these observations, we investigated the relationship of several known and novel polymorphisms within GATA2 to coronary artery disease. We identified five single nucleotide polymorphisms that were significantly associated with early-onset coronary artery disease in GENECARD. These results were validated by identifying significant association of two of these single nucleotide polymorphisms in an independent case-control sample set that was phenotypically similar to the GENECARD families. These observations identify GATA2 as a novel susceptibility gene for coronary artery disease and suggest that the study of this transcription factor and its downstream targets may uncover a regulatory network important for coronary artery disease inheritance.

  16. Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein

    Directory of Open Access Journals (Sweden)

    Marc Ehrlich

    2015-07-01

    Full Text Available Frontotemporal dementia (FTD is a frequent form of early-onset dementia and can be caused by mutations in MAPT encoding the microtubule-associated protein TAU. Because of limited availability of neural cells from patients’ brains, the underlying mechanisms of neurodegeneration in FTD are poorly understood. Here, we derived induced pluripotent stem cells (iPSCs from individuals with FTD-associated MAPT mutations and differentiated them into mature neurons. Patient iPSC-derived neurons demonstrated pronounced TAU pathology with increased fragmentation and phospho-TAU immunoreactivity, decreased neurite extension, and increased but reversible oxidative stress response to inhibition of mitochondrial respiration. Furthermore, FTD neurons showed an activation of the unfolded protein response, and a transcriptome analysis demonstrated distinct, disease-associated gene expression profiles. These findings indicate distinct neurodegenerative changes in FTD caused by mutant TAU and highlight the unique opportunity to use neurons differentiated from patient-specific iPSCs to identify potential targets for drug screening purposes and therapeutic intervention.

  17. Early- and late-onset Alzheimer disease: Are they the same entity?

    Science.gov (United States)

    Tellechea, P; Pujol, N; Esteve-Belloch, P; Echeveste, B; García-Eulate, M R; Arbizu, J; Riverol, M

    2018-05-01

    Early-onset Alzheimer disease (EOAD), which presents in patients younger than 65 years, has frequently been described as having different features from those of late-onset Alzheimer disease (LOAD). This review analyses the most recent studies comparing the clinical presentation and neuropsychological, neuropathological, genetic, and neuroimaging findings of both types in order to determine whether EOAD and LOAD are different entities or distinct forms of the same entity. We observed consistent differences between clinical findings in EOAD and in LOAD. Fundamentally, the onset of EOAD is more likely to be marked by atypical symptoms, and cognitive assessments point to poorer executive and visuospatial functioning and praxis with less marked memory impairment. Alzheimer-type features will be more dense and widespread in neuropathology studies, with structural and functional neuroimaging showing greater and more diffuse atrophy extending to neocortical areas (especially the precuneus). In conclusion, available evidence suggests that EOAD and LOAD are 2 different forms of a single entity. LOAD is likely to be influenced by ageing-related processes. Copyright © 2015 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  18. Maintaining Intestinal Health: The Genetics and Immunology of Very Early Onset Inflammatory Bowel DiseaseSummary

    Directory of Open Access Journals (Sweden)

    Judith R. Kelsen

    2015-09-01

    Full Text Available Inflammatory bowel disease (IBD is a multifactoral disease caused by dysregulated immune responses to commensal or pathogenic microbes in the intestine, resulting in chronic intestinal inflammation. An emerging population of patients with IBD younger than 5 years of age represent a unique form of disease, termed very early onset IBD (VEO-IBD, which is phenotypically and genetically distinct from older-onset IBD. VEO-IBD is associated with increased disease severity, aggressive progression, and poor responsiveness to most conventional therapies. Further investigation into the causes and pathogenesis of VEO-IBD will help improve treatment strategies and may lead to a better understanding of the mechanisms that are essential to maintain intestinal health or provoke the development of targeted therapeutic strategies to limit intestinal inflammation and promote tissue repair. Here, we discuss the phenotypic nature of VEO-IBD, the recent identification of novel gene variants associated with disease, and functional immunologic studies interrogating the contribution of specific genetic variants to the development of chronic intestinal inflammation. Keywords: Inflammatory Bowel Disease, Very Early Onset Inflammatory Bowel Disease, Whole Exome Sequencing, Mucosal Immunology

  19. Early diagnosis of dementia: which tests are indicated? What are their costs?

    NARCIS (Netherlands)

    van Crevel, H.; van Gool, W. A.; Walstra, G. J.

    1999-01-01

    Dementia is reversible in a minority of patients, and these should be diagnosed but without subjecting the majority with irreversible disease to an excessive set of investigations. Should a battery of ancillary investigations be performed routinely in dementia? Or can these tests be carried out as

  20. Psychiatric Symptomatology in Early-Onset Binswanger’s Disease: Two Case Reports

    Directory of Open Access Journals (Sweden)

    R. M. Lawrence

    1995-01-01

    Full Text Available We describe two cases of Binswanger's disease of pre-senile onset which presented with affective and psychotic symptoms well before the appearance of cognitive deterioration and neurological signs, initially evading an accurate diagnosis. Psychiatrists should be aware of white matter disease and its role in the pathogenesis of psychiatric illness. Particular attention should be given to a history of hypertension as a risk factor in the early identification of these cases.

  1. Dopamine receptor gene d4 polymorphisms and early sexual onset: gender and environmental moderation in a sample of african-american youth.

    Science.gov (United States)

    Kogan, Steven M; Lei, Man-Kit; Beach, Steven R H; Brody, Gene H; Windle, Michael; Lee, Sunbok; MacKillop, James; Chen, Yi-Fu

    2014-08-01

    Early sexual onset and its consequences disproportionately affect African-American youth, particularly male youth. The dopamine receptor D4 gene (DRD4) has been linked to sexual activity and other forms of appetitive behavior, particularly for male youth and in combination with environmental factors (gene × environment [G × E] effects). The differential susceptibility perspective suggests that DRD4 may exert this effect by amplifying the effects of both positive and negative environments. We hypothesized that DRD4 status would amplify the influence of both positive and negative neighborhood environments on early sexual onset among male, but not female, African-Americans. Hypotheses were tested with self-report, biospecimen, and census data from five prospective studies of male and female African-American youth in rural Georgia communities, N = 1,677. Early sexual onset was defined as intercourse before age 14. No significant G × E findings emerged for female youth. Male youth with a DRD4 long allele were more likely than those with two DRD4 short alleles to report early sexual onset in negative community environments and not to report early onset in positive community environments. Dopaminergic regulation of adolescent sexual behaviors may operate differently by gender. DRD4 operated as an environmental amplification rather than a vulnerability factor. Copyright © 2014 Society for Adolescent Health and Medicine. Published by Elsevier Inc. All rights reserved.

  2. Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.

    Science.gov (United States)

    van de Pol, Laura A; Wolf, Nicole I; van Weissenbruch, Mirjam M; Stam, Cornelie J; Weiss, Janneke M; Waisfisz, Quinten; Kevelam, Sietske H; Bugiani, Mariana; van de Kamp, Jiddeke M; van der Knaap, Marjo S

    2015-12-01

    A variety of pathologies can underlie early-onset severe encephalopathy with epilepsy. To aid the diagnostic process in such patients we present an overview of causes, including the rapidly expanding list of genes involved. When no explanation is found, whole-exome sequencing (WES) can be used in an attempt to identify gene defects in patients suspected to suffer from a genetic form. We describe three siblings, born to consanguineous parents, with a lethal severe epileptic encephalopathy with early-infantile onset, including their magnetic resonance imaging, electroencephalography and, in one case, neuropathological findings. Using WES a homozygous frameshift mutation in the BRAT1 gene, c.638dup p.(Val214Glyfs*189), was identified. We present our cases in the context of all published cases with mutations in the BRAT1 gene and conclude that BRAT1 should be added to the growing list of genes related to early-onset severe encephalopathy with epilepsy. Georg Thieme Verlag KG Stuttgart · New York.

  3. Cognition and dementia in older patients with epilepsy

    Science.gov (United States)

    Sen, Arjune; Capelli, Valentina

    2018-01-01

    Abstract With advances in healthcare and an ageing population, the number of older adults with epilepsy is set to rise substantially across the world. In developed countries the highest incidence of epilepsy is already in people over 65 and, as life expectancy increases, individuals who developed epilepsy at a young age are also living longer. Recent findings show that older persons with epilepsy are more likely to suffer from cognitive dysfunction and that there might be an important bidirectional relationship between epilepsy and dementia. Thus some people with epilepsy may be at a higher risk of developing dementia, while individuals with some forms of dementia, particularly Alzheimer’s disease and vascular dementia, are at significantly higher risk of developing epilepsy. Consistent with this emerging view, epidemiological findings reveal that people with epilepsy and individuals with Alzheimer’s disease share common risk factors. Recent studies in Alzheimer’s disease and late-onset epilepsy also suggest common pathological links mediated by underlying vascular changes and/or tau pathology. Meanwhile electrophysiological and neuroimaging investigations in epilepsy, Alzheimer’s disease, and vascular dementia have focused interest on network level dysfunction, which might be important in mediating cognitive dysfunction across all three of these conditions. In this review we consider whether seizures promote dementia, whether dementia causes seizures, or if common underlying pathophysiological mechanisms cause both. We examine the evidence that cognitive impairment is associated with epilepsy in older people (aged over 65) and the prognosis for patients with epilepsy developing dementia, with a specific emphasis on common mechanisms that might underlie the cognitive deficits observed in epilepsy and Alzheimer’s disease. Our analyses suggest that there is considerable intersection between epilepsy, Alzheimer’s disease and cerebrovascular disease raising

  4. A computational linguistic measure of clustering behavior on semantic verbal fluency task predicts risk of future dementia in the nun study.

    Science.gov (United States)

    Pakhomov, Serguei V S; Hemmy, Laura S

    2014-06-01

    Generative semantic verbal fluency (SVF) tests show early and disproportionate decline relative to other abilities in individuals developing Alzheimer's disease. Optimal performance on SVF tests depends on the efficiency of using clustered organization of semantically related items and the ability to switch between clusters. Traditional approaches to clustering and switching have relied on manual determination of clusters. We evaluated a novel automated computational linguistic approach for quantifying clustering behavior. Our approach is based on Latent Semantic Analysis (LSA) for computing strength of semantic relatedness between pairs of words produced in response to SVF test. The mean size of semantic clusters (MCS) and semantic chains (MChS) are calculated based on pairwise relatedness values between words. We evaluated the predictive validity of these measures on a set of 239 participants in the Nun Study, a longitudinal study of aging. All were cognitively intact at baseline assessment, measured with the Consortium to Establish a Registry for Alzheimer's Disease (CERAD) battery, and were followed in 18-month waves for up to 20 years. The onset of either dementia or memory impairment were used as outcomes in Cox proportional hazards models adjusted for age and education and censored at follow-up waves 5 (6.3 years) and 13 (16.96 years). Higher MCS was associated with 38% reduction in dementia risk at wave 5 and 26% reduction at wave 13, but not with the onset of memory impairment. Higher [+1 standard deviation (SD)] MChS was associated with 39% dementia risk reduction at wave 5 but not wave 13, and association with memory impairment was not significant. Higher traditional SVF scores were associated with 22-29% memory impairment and 35-40% dementia risk reduction. SVF scores were not correlated with either MCS or MChS. Our study suggests that an automated approach to measuring clustering behavior can be used to estimate dementia risk in cognitively normal

  5. Functional disability in elderly with dementia

    Directory of Open Access Journals (Sweden)

    Tainã Alves Fagundes

    2017-03-01

    Full Text Available Introduction: Dementia represents one of the major causes of disability and dependence in old age and can affect functional capacity in all areas of occupational performance, including basic and instrumental activities of daily living (BADL and IADL, respectively, leisure, social participation and others. Objectives: To characterize the functional disability level in elderly people with dementia and verify the existence of correlation between functionality and the stage or type of dementia. Method: Quantitative, exploratory, cross-sectional study, with a sample of 25 caregivers of elderly with dementia. For the characterization of the participants were used structured questionnaires and to assess functional disability, the Disability Assessment Scale for Dementia - DAD was applied. Results: Greater incapacity was observed in the IADL sub item. This finding is compatible with the literature on the hierarchy in functional decline in the elderly: decline begins in IADL, while BADL remain unaffected for a longer period. There was no significant correlation between the type of dementia, age or gender and disability. It was verified through the Spearman coefficient (rho = 0.87, a significant correlation of high magnitude between functional disability and stage of dementia (p = 0.0001. Conclusion: Such findings reiterate the importance of giving priority to early detection and prevention of the functional decline, which is the manifestation of vulnerability among the elderly.

  6. Insulin, cognition, and dementia

    Science.gov (United States)

    Cholerton, Brenna; Baker, Laura D.; Craft, Suzanne

    2015-01-01

    Cognitive disorders of aging represent a serious threat to the social and economic welfare of current society. It is now widely recognized that pathology related to such conditions, particularly Alzheimer’s disease, likely begins years or decades prior to the onset of clinical dementia symptoms. This revelation has led researchers to consider candidate mechanisms precipitating the cascade of neuropathological events that eventually lead to clinical Alzheimer’s disease. Insulin, a hormone with potent effects in the brain, has recently received a great deal of attention for its potential beneficial and protective role in cognitive function. Insulin resistance, which refers to the reduced sensitivity of target tissues to the favorable effects of insulin, is related to multiple chronic conditions known to impact cognition and increase dementia risk. With insulin resistance-associated conditions reaching epidemic proportions, the prevalence of Alzheimer’s disease and other cognitive disorders will continue to rise exponentially. Fortunately, these chronic insulin-related conditions are amenable to pharmacological intervention. As a result, novel therapeutic strategies that focus on increasing insulin sensitivity in the brain may be an important target for protecting or treating cognitive decline. The following review will highlight our current understanding of the role of insulin in brain, potential mechanisms underlying the link between insulin resistance and dementia, and current experimental therapeutic strategies aimed at improving cognitive function via modifying the brain’s insulin sensitivity. PMID:24070815

  7. Prevalence of presenile dementia in a tertiary outpatient clinic Prevalência de demência pré-senil num ambulatório terciário

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    Satomi Fujihara

    2004-09-01

    Full Text Available There are very few reports about prevalence of presenile dementia in Brazil. We reviewed files of patients evaluated with early onset of cognitive impairment in our institution. Among 141 patients (61% males there was no difference between gender by age at onset or at first evaluation. We have observed an increasing number of patients after 50 years. The most frequent causes were: vascular dementia (36.9%, Alzheimer's disease (20.3% and traumatic brain injury (9.2%. There was difference among dementia type by age of onset and first evaluation, educational level and length of dementia. These results may be compared with those from other neurologic services in order to replicate or confirm these results.Em nosso meio há raros estudos que verifiquem quais as causas mais prevalentes de demência pré-senil. Avaliamos retrospectivamente os prontuários de pacientes com início precoce de alterações cognitivas, ambulatório de Neurologia da Cognição do Hospital Santa Marcelina. Entre os 141 sujeitos (61% de homens não houve diferença quanto às idades de início e à primeira consulta e escolaridade entre os sexos. Observamos aumento no número de demência após os 50 anos. A causa mais freqüente foi vascular (36,9%, seguida por doença de Alzheimer (20,3% e secundária a trauma cranio encefálico (9,2%. Houve diferença entre os tipos de demência quanto à idade na primeira consulta e idade de início, escolaridade e duração do quadro. Ao contrário de outros estudos o diagnóstico mais freqüente foi demência vascular. Novos estudos em nosso meio deverão ser realizados para avaliar este achado nas demências de início precoce.

  8. Maternal History and Uterine Artery Doppler in the Assessment of Risk for Development of Early- and Late-Onset Preeclampsia and Intrauterine Growth Restriction

    Directory of Open Access Journals (Sweden)

    Elisa Llurba

    2009-01-01

    Full Text Available Objective. To examine the value of one-step uterine artery Doppler at 20 weeks of gestation in the prediction pre-eclampsia (PE and/or intrauterine growth restriction (IUGR. Methods. A prospective multicentre study that included all women with singleton pregnancies at 19–22 weeks of gestation (w. The mean pulsatility index (mPI of both uterine arteries was calculated. Receiver-operating characteristics curves (ROC were drawn to compare uterine artery Doppler and maternal risk factors for the prediction of early-onset PE and/or IUGR (before 32 w and late-onset PE and/or IUGR. Results. 6,586 women were included in the study. Complete outcome data was recorded for 6,035 of these women (91.6%. PE developed in 75 (1.2% and IUGR in 69 (1.1% cases. Uterine Doppler mPI was 0.99 and the 90th centile was 1.40. For 10% false-positive rate, uterine Doppler mPI identified 70.6% of pregnancies that subsequently developed early-onset PE and 73.3% of pregnancies that developed early-onset IUGR. The test had a lower detection rate for the late-onset forms of the disease (23.5% for PE and 30% for IUGR. Maternal history has a low sensitivity in the detection of early-onset cases, although it is better at detecting late-onset PE. Conclusion. Uterine artery Doppler and maternal risk factors seem to select two different populations - early and late-onset PE which might suggest a different pathogenesis.

  9. MR spectroscopy in dementia; MR-Spektroskopie bei Demenz

    Energy Technology Data Exchange (ETDEWEB)

    Hauser, T.; Gerigk, L.; Giesel, F.; Schuster, L.; Essig, M. [Deutsches Krebsforschungszentrum (DKFZ) Heidelberg, Abteilung E010, Radiologie, Heidelberg (Germany)

    2010-09-15

    With an increasingly aging population we are faced with the problem of an increasing number of dementia patients. In addition to clinical, neuropsychological and laboratory procedures, MRI plays an important role in the early diagnosis of dementia. In addition to various morphological changes functional changes can also help in the diagnosis and differential diagnosis of dementia. Overall the diagnosis of dementia can be improved by using parameters from MR spectroscopy. This article focuses on MR spectroscopic changes in the physiological aging process as well as on changes in mild cognitive impairment a precursor of Alzheimer's dementia, in Alzheimer's dementia, frontotemporal dementia, vascular dementia and Lewy body dementia. (orig.) [German] Angesichts einer immer aelter werdenden Bevoelkerung sind wir mit dem Problem einer zunehmenden Zahl an Demenzerkrankungen konfrontiert. Neben klinischen, neuropsychologischen und laborchemischen Verfahren spielt die MRT zur Fruehdiagnostik einer Demenz eine wichtige Rolle. Morphologische Veraenderungen wie auch verschiedene funktionelle Verfahren helfen bei der Diagnostik und Differenzialdiagnostik einer Demenz. Insgesamt kann mittels MR-spektroskopischer Parameter die Diagnostik einer Demenz verbessert werden. In diesem Artikel soll auf MR-spektroskopische Veraenderungen im Rahmen des physiologischen Alterungsprozesses eingegangen werden. Ferner werden speziell Veraenderungen bei leichter kognitiver Beeintraechtigung, einer Vorform der Alzheimer-Demenz, bei Alzheimer-, frontotemporaler, vaskulaerer und Lewy-Koerper-Demenz eroertert. (orig.)

  10. Cerebellar ataxia of early onset. Clinical symptoms and MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Yamashita, Sumimasa; Miyake, Shota; Yamada, Michiko; Iwamoto, Hiroko (Kanagawa Children' s Medical Center, Yokohama (Japan)); Yamada, Kazuhiko

    1989-07-01

    Eight cases of childhood cerebellar ataxia were reported. All these cases showed chronic cerebellar ataxia with early onset, and the other diseases of cerebellum such as infections, neoplasms and storage diseases were excluded by clinical symptoms and laboratory findings including blood counts, blood chemistry, lactate, pyruvate, ceruloplasmine, urinalysis, serum immunoglobulins, amino acid analysis in blood and urine, CSF analysis, leukocyte lysosomal enzymes, MCV, EMG, EEG and brain X-CT. Two pairs of siblings were included in this study. The clinical diagnosis were cerebellar type (5), spinocerebellar type (1), one Marinesco-Sjoegren syndrome and undetermined type (1). The age of onset was 1 to 5 years. The chief complaint was motor developmental delay in 6 cases; among them 5 patients could walk alone at the ages of 2 to 3 years'. Mental retardation was observed in 7 cases and epilepsy in 2. TRH was effective in 5 cases. The MRI study revealed that the area of medial sagittal slice of the cerebellum was reduced significantly in all cases and also that of pons was reduced in 5 cases. Different from typical adult onset spinocerebellar degenerations, most of the present cases have achieved slow developmental milestones and the clinical course was not progressive. Genetic factors are suspected in the pathogenesis of this disease in some cases. (author).

  11. Early-onset anorexia nervosa in girls with Asperger syndrome

    Directory of Open Access Journals (Sweden)

    Dudova I

    2015-07-01

    Full Text Available Iva Dudova, Jana Kocourkova, Jiri Koutek Department of Child Psychiatry, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic Abstract: Eating disorders frequently occur in conjunction with autism spectrum disorders, posing diagnostic and therapeutic difficulties. The comorbidity of anorexia nervosa and Asperger syndrome is a significant clinical complication and has been associated with a poorer prognosis. The authors are presenting the cases of an eleven-year-old girl and a five-and-a-half-year-old girl with comorbid eating disorders and Asperger syndrome. Keywords: eating disorders, early-onset anorexia nervosa, autism spectrum disorders, Asperger syndrome, diagnostics, therapy

  12. Protective Role of Maternal P.VAL158MET Catechol-O-methyltransferase Polymorphism against Early-Onset Preeclampsia and its Complications

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    Krnjeta Tijana

    2016-09-01

    Full Text Available Background: Up until now there have been contradictory data about the association between p.Val158Met catechol-O-methyltransferase (COMT polymorphism and risk of preeclampsia (PE. The goal of this study was to assess the potential correlation between p.Val158Met COMT polymorphism and risk of early-onset PE, risk of a severe form of early-onset PE, as well as risk of small-for-gestationalage (SGA complicating PE.

  13. Parkinson Disease and Dementia.

    Science.gov (United States)

    Garcia-Ptacek, Sara; Kramberger, Milica G

    2016-09-01

    Dementia is a frequent complication of Parkinson disease (PD) with a yearly incidence of around 10% of patients with PD. Lewy body pathology is the most important factor in the development of Parkinson disease dementia (PDD) and there is evidence for a synergistic effect with β-amyloid. The clinical phenotype in PDD extends beyond the dysexecutive syndrome that is often present in early PD and encompasses deficits in recognition memory, attention, and visual perception. Sleep disturbances, hallucinations, neuroleptic sensitivity, and fluctuations are often present. This review provides an update on current knowledge of PDD including aspects of epidemiology, pathology, clinical presentation, management, and prognosis. © The Author(s) 2016.

  14. 2014 CODEPEH recommendations: Early detection of late onset deafness, audiological diagnosis, hearing aid fitting and early intervention.

    Science.gov (United States)

    Núñez-Batalla, Faustino; Jáudenes-Casaubón, Carmen; Sequí-Canet, Jose Miguel; Vivanco-Allende, Ana; Zubicaray-Ugarteche, Jose

    2016-01-01

    The latest scientific literature considers early diagnosis of deafness as the key element to define the educational and inclusive prognosis of the deaf child, because it allows taking advantage of the critical period of development (0-4 years). Highly significant differences exist between deaf people who have been stimulated early and those who have received late or improper intervention. Early identification of late-onset disorders requires special attention and knowledge on the part of every childcare professional. Programs and additional actions beyond neonatal screening should be designed and planed to ensure that every child with a significant hearing loss is detected early. For this purpose, the CODEPEH would like to highlight the need for continuous monitoring of children's auditory health. Consequently, CODEPEH has drafted the recommendations included in the present document. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Otorrinolaringología y Patología Cérvico-Facial. All rights reserved.

  15. Impact of substance use on the onset and course of early psychosis.

    Science.gov (United States)

    Verdoux, Hélène; Tournier, Marie; Cougnard, Audrey

    2005-11-01

    The strong comorbidity between psychosis and substance use is already identifiable in early psychosis, raising the question of the direction of the association between substance use and psychosis onset. It has long been considered that this association was explained by the self-medication hypothesis. This hypothesis has been recently challenged by several prospective studies carried out in population-based samples, showing a dose-response relationship between cannabis exposure and risk of psychosis. This association was independent from potential confounding factors such as exposure to other drugs and pre-existence of psychotic symptoms. As a large percentage of subjects from the general population is now exposed to this drug, even a small increase in the risk of adverse effects may have significant deleterious consequences for the health of the population. Hence, reducing exposure to cannabis may contribute to prevention of some incident cases of psychosis. Regarding prognosis, persistent substance misuse after the onset of psychosis has a deleterious impact on clinical outcome. Therapeutic programs for subjects with dual diagnosis should be implemented early in the course of psychosis to maximise their impact on the course of illness.

  16. Long term functioning in early onset psychosis: Two years prospective follow-up study

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    Taha Ghada RA

    2011-07-01

    Full Text Available Abstract Background There were few studies on the outcome of schizophrenia in developing countries. Whether the outcome is similar to or different from developed world is still a point for research. The main aim of the current study was to know if patients with early onset non affective psychosis can behave and function properly after few years from start of the illness or not. Other aims included investigation of possible predictors and associated factors with remission and outcome. Method The study prospectively investigated a group of 56 patients with onset of psychosis during childhood or adolescence. Diagnosis made according to DSM-IV criteria and included; schizophrenia, psychotic disorder not otherwise specified and acute psychosis. Severity of psychosis was measured by PANSS. Measures of the outcome included; remission criteria of Andreasen et al 2005, the children's global assessment scale and educational level. Results Analysis of data was done for only 37 patients. Thirty patients diagnosed as schizophrenia and 7 with Psychotic disorder not otherwise specified. Mean duration of follow up was 38.4 +/- 16.9 months. At the end of the study, 6 patients (16.2% had one episode, 23(62.1% had multiple episodes and 8 (21.6% continuous course. Nineteen patients (51.4% achieved full remission, and only 11(29.7% achieved their average educational level for their age. Twenty seven percent of the sample had good outcome and 24.3% had poor outcome. Factors associated with non remission and poor outcome included gradual onset, low IQ, poor premorbid adjustment, negative symptoms at onset of the illness and poor adherence to drugs. Moreover, there was tendency of negative symptoms at illness start to predict poor outcome. Conclusion Some patients with early onset non affective psychosis can behave and function properly after few years from the start of the illness. Although remission is a difficult target in childhood psychosis, it is still achievable.

  17. Immunity to endotoxin and Asp299Gly polymorphism of TLR-4 in adult patients with early and late onset of asthma

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    Yu. A. Bisyuk

    2015-06-01

    Full Text Available Aim. The gene polymorphism of Asp299Gly TLR-4 may be associated with the risk of asthma development. Methods and results. The gene polymorphism of TLR-4 (Asp299Gly receptor has been researched in 262 early-onset and in 69 late-onset asthma patients. The state of anti-endotoxin immunity was assessed by determination of specific antibodies to the endotoxin of A, M, G classes and sCD14 by ELISA. The polymorphism was analyzed by the allele-specific polymerase chain reaction with electrophoretic detection. It was estimated that the risk of early-onset asthma in the population of Crimea is associated with genotypes AG and GG (Asp299Gly of TLR-4. There were increased levels of anti-endotoxin IgM and decreased of sIgA in patients with late-onset asthma and AA genotype as compared to other genotypes. Conclusion. The gene polymorphism of Asp299Gly TLR-4 is associated with the risk of early-onset asthma development in Crimea population.

  18. Dementia beyond 2025: Knowledge and uncertainties.

    Science.gov (United States)

    Kenigsberg, Paul-Ariel; Aquino, Jean-Pierre; Bérard, Alain; Gzil, Fabrice; Andrieu, Sandrine; Banerjee, Sube; Brémond, François; Buée, Luc; Cohen-Mansfield, Jiska; Mangialasche, Francesca; Platel, Hervé; Salmon, Eric; Robert, Philippe

    2016-01-01

    Given that there may well be no significant advances in drug development before 2025, prevention of dementia-Alzheimer's disease through the management of vascular and lifestyle-related risk factors may be a more realistic goal than treatment. Level of education and cognitive reserve assessment in neuropsychological testing deserve attention, as well as cultural, social, and economic aspects of caregiving. Assistive technologies for dementia care remain complex. Serious games are emerging as virtual educational and pleasurable tools, designed for individual and cooperative skill building. Public policies are likely to pursue improving awareness and understanding of dementia; providing good quality early diagnosis and intervention for all; improving quality of care from diagnosis to the end of life, using clinical and economic end points; delivering dementia strategies quicker, with an impact on more people. Dementia should remain presented as a stand-alone concept, distinct from frailty or loss of autonomy. The basic science of sensory impairment and social engagement in people with dementia needs to be developed. E-learning and serious games programs may enhance public and professional education. Faced with funding shortage, new professional dynamics and economic models may emerge through coordinated, flexible research networks. Psychosocial research could be viewed as an investment in quality of care, rather than an academic achievement in a few centers of excellence. This would help provide a competitive advantage to the best operators. Stemming from care needs, a logical, systems approach to dementia care environment through organizational, architectural, and psychosocial interventions may be developed, to help reduce symptoms in people with dementia and enhance quality of life. Dementia-friendly environments, culture, and domesticity are key factors for such interventions. © The Author(s) 2015.

  19. Combined effect of TLR2 gene polymorphism and early life stress on the age at onset of bipolar disorders.

    Directory of Open Access Journals (Sweden)

    José Oliveira

    Full Text Available Gene-environment interactions may play an important role in modulating the impact of early-life stressful events on the clinical course of bipolar disorder (BD, particularly associated to early age at onset. Immune dysfunction is thought to be an important mechanism linking childhood trauma with early-onset BD, thus the genetic diversity of immune-related loci may account for an important part of the interindividual susceptibility to this severe subform. Here we investigated the potential interaction between genetic variants of Toll-like receptors 2 (TLR2 and 4 (TLR4, major innate immune response molecules to pathogens, and the childhood trauma questionnaire (CTQ in age at onset of BD. We recruited 531 BD patients (type I and II or not otherwise specified, genotyped for the TLR2 rs4696480 and rs3804099 and TLR4 rs1927914 and rs11536891 single-nucleotide polymorphisms and recorded for history of childhood trauma using the CTQ. TLR2 and TLR4 risk genotype carrier state and history of childhood emotional, physical and sexual abuses were evaluated in relation to age at onset as defined by the age at first manic or depressive episode. We observed a combined effect of TLR2 rs3804099 TT genotype and reported sexual abuse on determining an earlier age at onset of BD by means of a Kaplan-Meier survival curve (p = 0.002; corrected p = 0.02. Regression analysis, however, was non-significant for the TLR2-CTQ sexual abuse interaction term. The negative effects of childhood sexual abuse on age at onset of BD may be amplified in TLR2 rs3804099 risk genotype carriers through immune-mediated pathways. Clinical characteristics of illness severity, immune phenotypes and history of early life infectious insults should be included in future studies involving large patient cohorts.

  20. Short communication: Associations between blood glucose concentration, onset of hyperketonemia, and milk production in early lactation dairy cows.

    Science.gov (United States)

    Ruoff, J; Borchardt, S; Heuwieser, W

    2017-07-01

    The objectives of this study were to describe the associations between hypoglycemia and the onset of hyperketonemia (HYK) within the first 6 wk of lactation, to evaluate the effects of body condition score at calving on glucose concentration, and to study the effects of hypoglycemia on milk production. A total of 621 dairy cows from 6 commercial dairy farms in Germany were enrolled between 1 and 4 d in milk (DIM). Cows were tested twice weekly using an electronic handheld meter for glucose and β-hydroxybutyrate (BHB), respectively, for a period of 42 d. Hypoglycemia was defined as glucose concentration ≤2.2 mmol/L. Hyperketonemia was defined as a BHB concentration ≥1.2 mmol/L. The onset of HYK was described as early onset (first HYK event within the first 2 wk postpartum) and late onset (first HYK event in wk 3 to 6 postpartum). The effect of ketosis status on blood glucose within 42 DIM was evaluated using a generalized linear mixed model. No effect was observed of HYK on glucose concentration in primiparous cows. Multiparous cows with early-onset HYK had a lower glucose concentration (-0.21 mmol/L) compared with nonketotic cows. Overall, primiparous cows had a lower prevalence and incidence of hypoglycemia than multiparous cows. Hypoglycemia in multiparous cows was associated with higher first test-day milk production and 100 DIM milk production. In conclusion, hypoglycemia mainly occurred in multiparous cows with early-onset HYK, whereas primiparous cows were at a lower risk for hypoglycemia. Copyright © 2017 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  1. New SPECT and PET dementia tracers

    International Nuclear Information System (INIS)

    Vergote, J.; Chalon, S.; Emond, P.; Vercouillie, J.; Guilloteau, D.; Vergote, J.; Guilloteau, D.; Pappata, J.S.

    2009-01-01

    Single photon emission tomography (SPECT) and positron emission tomography (PET) are techniques to study in vivo neurotransmitter systems, neuro inflammation and amyloid deposits in normal human brain and in dementia. These methods used to explore the integrity of dopaminergic, cholinergic and serotonergic systems in Alzheimer's disease and in other dementias allowed to understand how the neurotransmission was modified in these disorders. Progress in the understanding of pathophysiological and clinical signs of dementia requires an evolution of the radioligands used to carry out an increasingly early and differential diagnosis in addition to monitoring the progression of disease and the effects of therapies. New emerging radiotracers for neuro inflammation or amyloid deposits are essential. In this article, new SPECT and PET tracers are presented. (authors)

  2. Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

    NARCIS (Netherlands)

    Ait-El-Mkadem, Samira; Dayem-Quere, Manal; Gusic, Mirjana; Chaussenot, Annabelle; Bannwarth, Sylvie; François, Bérengère; Genin, Emmanuelle C; Fragaki, Konstantina; Volker-Touw, Catharina L M; Vasnier, Christelle; Serre, Valérie; van Gassen, Koen L I; Lespinasse, Françoise; Richter, Susan; Eisenhofer, Graeme; Rouzier, Cécile; Mochel, Fanny; De Saint-Martin, Anne; Abi Warde, Marie-Thérèse; de Sain-van der Velden, Monique G M; Jans, Judith J M; Amiel, Jeanne; Avsec, Ziga; Mertes, Christian; Haack, Tobias B; Strom, Tim; Meitinger, Thomas; Bonnen, Penelope E; Taylor, Robert W; Gagneur, Julien; van Hasselt, Peter M; Rötig, Agnès; Delahodde, Agnès; Prokisch, Holger; Fuchs, Sabine A; Paquis-Flucklinger, Véronique

    2016-01-01

    MDH2 encodes mitochondrial malate dehydrogenase (MDH), which is essential for the conversion of malate to oxaloacetate as part of the proper functioning of the Krebs cycle. We report bi-allelic pathogenic mutations in MDH2 in three unrelated subjects presenting with early-onset generalized

  3. MRI in dementia-type diseases

    International Nuclear Information System (INIS)

    Bodea, S.V.; Muehl-Benninghaus, R.

    2015-01-01

    Dementia-inducing conditions represent a leading cause of disability and are a major health concern in industrialized countries. The burden these conditions put on society is certain to rise in the context of an ever-increasing elderly population. As these conditions feature an insidious onset and overlapping clinical features, imaging is a powerful tool in refining the diagnosis and assessing the progression of dementing conditions. The radiologist needs to be aware of and be able to detect underlying pathologies which could be reversible. Furthermore, imaging is important not only in excluding other pathologies but also in improving diagnostic accuracy. This article presents the typical clinical presentations as well as magnetic resonance imaging (MRI) features of the degenerative and the non-degenerative causes of dementia. The focus is on the core knowledge for MRI diagnostics in dementing conditions and a brief presentation of the latest MRI techniques which may become a part of standard imaging protocols in the future. (orig.) [de

  4. Cost Effective Community Based Dementia Screening: A Markov Model Simulation

    Directory of Open Access Journals (Sweden)

    Erin Saito

    2014-01-01

    Full Text Available Background. Given the dementia epidemic and the increasing cost of healthcare, there is a need to assess the economic benefit of community based dementia screening programs. Materials and Methods. Markov model simulations were generated using data obtained from a community based dementia screening program over a one-year period. The models simulated yearly costs of caring for patients based on clinical transitions beginning in pre dementia and extending for 10 years. Results. A total of 93 individuals (74 female, 19 male were screened for dementia and 12 meeting clinical criteria for either mild cognitive impairment (n=7 or dementia (n=5 were identified. Assuming early therapeutic intervention beginning during the year of dementia detection, Markov model simulations demonstrated 9.8% reduction in cost of dementia care over a ten-year simulation period, primarily through increased duration in mild stages and reduced time in more costly moderate and severe stages. Discussion. Community based dementia screening can reduce healthcare costs associated with caring for demented individuals through earlier detection and treatment, resulting in proportionately reduced time in more costly advanced stages.

  5. Self-administered Gerocognitive Examination (SAGE): a brief cognitive assessment Instrument for mild cognitive impairment (MCI) and early dementia.

    Science.gov (United States)

    Scharre, Douglas W; Chang, Shu-Ing; Murden, Robert A; Lamb, James; Beversdorf, David Q; Kataki, Maria; Nagaraja, Haikady N; Bornstein, Robert A

    2010-01-01

    To develop a self-administered cognitive assessment instrument to facilitate the screening of mild cognitive impairment (MCI) and early dementia and determine its association with gold standard clinical assessments including neuropsychologic evaluation. Adults aged above 59 years with sufficient vision and English literacy were recruited from geriatric and memory disorder clinics, educational talks, independent living facilities, senior centers, and memory screens. After Self-administered Gerocognitive Examination (SAGE) screening, subjects were randomly selected to complete a clinical evaluation, neurologic examination, neuropsychologic battery, functional assessment, and mini-mental state examination (MMSE). Subjects were identified as dementia, MCI, or normal based on standard clinical criteria and neuropsychologic testing. Two hundred fifty-four participants took the SAGE screen and 63 subjects completed the extensive evaluation (21 normal, 21 MCI, and 21 dementia subjects). Spearman rank correlation between SAGE and neuropsychologic battery was 0.84 (0.76 for MMSE). SAGE receiver operating characteristics on the basis of clinical diagnosis showed 95% specificity (90% for MMSE) and 79% sensitivity (71% for MMSE) in detecting those with cognitive impairment from normal subjects. This study suggests that SAGE is a reliable instrument for detecting cognitive impairment and compares favorably with the MMSE. The self-administered feature may promote cognitive testing by busy clinicians prompting earlier diagnosis and treatment.

  6. Urine Metabonomics Reveals Early Biomarkers in Diabetic Cognitive Dysfunction.

    Science.gov (United States)

    Song, Lili; Zhuang, Pengwei; Lin, Mengya; Kang, Mingqin; Liu, Hongyue; Zhang, Yuping; Yang, Zhen; Chen, Yunlong; Zhang, Yanjun

    2017-09-01

    Recently, increasing attention has been paid to diabetic encephalopathy, which is a frequent diabetic complication and affects nearly 30% of diabetics. Because cognitive dysfunction from diabetic encephalopathy might develop into irreversible dementia, early diagnosis and detection of this disease is of great significance for its prevention and treatment. This study is to investigate the early specific metabolites biomarkers in urine prior to the onset of diabetic cognitive dysfunction (DCD) by using metabolomics technology. An ultra-high performance liquid-chromatography-quadrupole time-of-flight-mass spectrometry (UPLC-Q/TOF-MS) platform was used to analyze the urine samples from diabetic mice that were associated with mild cognitive impairment (MCI) and nonassociated with MCI in the stage of diabetes (prior to the onset of DCD). We then screened and validated the early biomarkers using OPLS-DA model and support vector machine (SVM) method. Following multivariate statistical and integration analysis, we found that seven metabolites could be accepted as early biomarkers of DCD, and the SVM results showed that the prediction accuracy is as high as 91.66%. The identities of four biomarkers were determined by mass spectrometry. The identified biomarkers were largely involved in nicotinate and nicotinamide metabolism, glutathione metabolism, tryptophan metabolism, and sphingolipid metabolism. The present study first revealed reliable biomarkers for early diagnosis of DCD. It provides new insight and strategy for the early diagnosis and treatment of DCD.

  7. Language preference and development of dementia among bilingual individuals.

    Science.gov (United States)

    McMurtray, Aaron; Saito, Erin; Nakamoto, Beau

    2009-10-01

    In bilingual individuals, regression to a primary language may be associated with development of cognitive impairment and increased risk for development of dementia. This report describes two bilingual patients who presented with early symptoms of dementia after regression to their primary language. The results of this study may help clinicians identify aging bilingual patients who are beginning to develop cognitive impairment or dementia and suggest that further studies on the long term cognitive effects of bilingualism and interactions with the aging process are indicated.

  8. Clinical features and multidisciplinary approaches to dementia care

    Directory of Open Access Journals (Sweden)

    Gr

    2011-05-01

    Full Text Available Jacob HG Grand¹, Sienna Caspar², Stuart WS MacDonald11Department of Psychology, University of Victoria, Victoria, BC, Canada; 2Interdisciplinary Graduate Studies, University of British Columbia, Vancouver, BC, CanadaAbstract: Dementia is a clinical syndrome of widespread progressive deterioration of cognitive abilities and normal daily functioning. These cognitive and behavioral impairments pose considerable challenges to individuals with dementia, along with their family members and caregivers. Four primary dementia classifications have been defined according to clinical and research criteria: 1 Alzheimer’s disease; 2 vascular dementias; 3 frontotemporal dementias; and 4 dementia with Lewy bodies/Parkinson’s disease dementia. The cumulative efforts of multidisciplinary healthcare teams have advanced our understanding of dementia beyond basic descriptions, towards a more complete elucidation of risk factors, clinical symptoms, and neuropathological correlates. The characterization of disease subtypes has facilitated targeted management strategies, advanced treatments, and symptomatic care for individuals affected by dementia. This review briefly summarizes the current state of knowledge and directions of dementia research and clinical practice. We provide a description of the risk factors, clinical presentation, and differential diagnosis of dementia. A summary of multidisciplinary team approaches to dementia care is outlined, including management strategies for the treatment of cognitive impairments, functional deficits, and behavioral and psychological symptoms of dementia. The needs of individuals with dementia are extensive, often requiring care beyond traditional bounds of medical practice, including pharmacologic and non-pharmacologic management interventions. Finally, advanced research on the early prodromal phase of dementia is reviewed, with a focus on change-point models, trajectories of cognitive change, and threshold models of

  9. Depression and dementia: cause, consequence or coincidence?

    Science.gov (United States)

    Bennett, Sophia; Thomas, Alan J

    2014-10-01

    The relationship between depression and dementia is complex and still not well understood. A number of different views exist regarding how the two conditions are linked as well as the underlying neurobiological mechanisms at work. This narrative review examined longitudinal and cross sectional studies in the existing literature and determined the evidence supporting depression being a risk factor, a prodrome, a consequence, or an independent comorbidity in dementia. Overall there is convincing evidence to support both the notion that early life depression can act as a risk factor for later life dementia, and that later life depression can be seen as a prodrome to dementia. There is also evidence to support both conditions showing similar neurobiological changes, particularly white matter disease, either indicating shared risk factors or a shared pattern of neuronal damage. These findings highlight the need to examine if effective treatment of depressive episodes has any effect in reducing the prevalence of dementia, as well as clinicians being vigilant for late life depression indicating the incipient development of dementia, and therefore carefully following up these individuals for future cognitive impairment. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  10. Attention-deficit/hyperactivity disorder in adolescence predicts onset of major depressive disorder through early adulthood.

    Science.gov (United States)

    Meinzer, Michael C; Lewinsohn, Peter M; Pettit, Jeremy W; Seeley, John R; Gau, Jeff M; Chronis-Tuscano, Andrea; Waxmonsky, James G

    2013-06-01

    The aim of this study was to examine the prospective relationship between a history of attention-deficit/hyperactivity disorder (ADHD) assessed in mid-adolescence and the onset of major depressive disorder (MDD) through early adulthood in a large school-based sample. A secondary aim was to examine whether this relationship was robust after accounting for comorbid psychopathology and psychosocial impairment. One thousand five hundred seven participants from the Oregon Adolescent Depression Project completed rating scales in adolescence and structured diagnostic interviews up to four times from adolescence to age 30. Adolescents with a lifetime history of ADHD were at significantly higher risk of MDD through early adulthood relative to those with no history of ADHD. ADHD remained a significant predictor of MDD after controlling for gender, lifetime history of other psychiatric disorders in adolescence, social and academic impairment in adolescence, stress and coping in adolescence, and new onset of other psychiatric disorders through early adulthood (hazard ratio, 1.81; 95% confidence interval, 1.04, 3.06). Additional significant, robust predictors of MDD included female gender, a lifetime history of an anxiety disorder, and poor coping skills in mid-adolescence, as well as the onset of anxiety, oppositional defiant disorder, and substance-use disorder after mid-adolescence. A history of ADHD in adolescence was associated with elevated risk of MDD through early adulthood and this relationship remained significant after controlling for psychosocial impairment in adolescence and co-occurring psychiatric disorders. Additional work is needed to identify the mechanisms of risk and to inform depression prevention programs for adolescents with ADHD. © 2013 Wiley Periodicals, Inc.

  11. Comparison of microbial pattern in early and late onset neonatal sepsis in referral center Haji Adam Malik hospital Medan Indonesia

    Science.gov (United States)

    Hasibuan, B. S.

    2018-03-01

    Neonatal sepsis contributes a significant rate of infants mortality and morbidity. The pathogens are diverse from region to another and change time to time even in the same place. To analyze the microbial pattern in early and late onset neonatal sepsis andthe pattern of antibiotic resistance of the causative microbes at one of referral center hospital in Indonesia, Haji Adam Malik Hospital, a cross-sectional descriptive study was conducted on neonates with sepsis diagnosis proven with positive blood culture within one year period (2015-2016). Among 626 neonates admitted to perinatology unit, the total of 154 neonates was proven to have neonatal sepsis with positive blood culture with the incidence rate 24.6%. Seventy-nine (51.3%) neonates were diagnosed with early onset sepsis while 75 (48,7%) neonates had late-onset sepsis. Klebsiella pneumonia was the most commonly isolated organism in both early and late onset sepsis, encompassing 19.5% of cases. Periodic surveillance of the causative agents of neonatal sepsis is needed to implement the rational, empirical choice of antibiotic prescription while waiting for blood culture result to come out.

  12. Visual orientation in hospitalized boys with early onset conduct disorder and borderline intellectual functioning

    NARCIS (Netherlands)

    van der Meere, Jacob; Börger, Norbert; Pirila, Silja

    2012-01-01

    The aim of the present study is to investigate visual orientation in hospitalized boys with severe early onset conduct disorder and borderline intellectual functioning. It is tested whether boys with the dual diagnosis have a stronger action-oriented response style to visual-cued go signals than the

  13. [Links between life events, traumatism and dementia; an open study including 565 patients with dementia].

    Science.gov (United States)

    Charles, E; Bouby-Serieys, V; Thomas, P; Clément, J-P

    2006-10-01

    home care, storm and caregiver change in life (0.17%). Regrouping the data: 82.71% of the answers can be connected to prolonged stress, 62.85% to real or symbolic loss, 39% to a psychotraumatic event and finally, most of these events can potentially induce depression. Some of the events refer to