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Sample records for early onset schizophrenia

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

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    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

  2. Strong family history and early onset of schizophrenia: about 2 families in Northern Nigeria

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    Nuhu, Folorunsho Tajudeen; Eseigbe, Edwin Ehi; Issa, Baba Awoye; Gomina, Michael Omeiza

    2016-01-01

    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 subpopulations for genetic studies. We present 2 families with heavy genetic loading who have adolescents with schizophrenia.

  3. Strong family history and early onset of schizophrenia: about 2 families in Northern Nigeria.

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    Nuhu, Folorunsho Tajudeen; Eseigbe, Edwin Ehi; Issa, Baba Awoye; Gomina, Michael Omeiza

    2016-01-01

    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 subpopulations for genetic studies. We present 2 families with heavy genetic loading who have adolescents with schizophrenia.

  4. Neuronal correlates of facial emotion discrimination in early onset schizophrenia.

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    Seiferth, Nina Y; Pauly, Katharina; Kellermann, Thilo; Shah, N Jon; Ott, Gudrun; Herpertz-Dahlmann, Beate; Kircher, Tilo; Schneider, Frank; Habel, Ute

    2009-01-01

    Emotion discrimination deficits represent a well-established finding in schizophrenia. Although imaging studies addressed the cerebral dysfunctions underlying emotion perception in adult patients, the question of trait vs state characteristics is still unresolved. The investigation of juvenile patients offers the advantage of studying schizophrenia at an age where influences of illness course and long-term medication are minimized. This may enable a more detailed characterization of emotion discrimination impairments and their cerebral correlates with respect to their appearance and exact nature. A total of 12 juvenile patients with early onset schizophrenia and matched healthy juveniles participated in this study. fMRI data were acquired during an emotion discrimination task consisting of standardized photographs of faces displaying happy, sad, angry, fearful, or neutral facial expression. Similar to findings in adult patients, juvenile patients exhibited reduced performance specificity whereas sensitivity was unaffected. Independent of the valence, their processing of emotional faces was associated with hypoactivations in both fusiform gyri and in the left inferior occipital gyrus. In addition, hyperactivations in patients were found in the right cuneus common to happy, angry, and fearful faces. Further, most distinct changes were present in juvenile patients when processing sad faces. These results point to a dysfunction in cerebral circuits relevant for emotion processing already prominent in adolescent schizophrenia patients. Regions affected by a decrease in activation are related to visual and face processing, similar to deficits reported in adult patients. These changes are accompanied by hyperactivations in areas related to emotion regulation and attribution, possibly reflecting compensatory mechanisms.

  5. Treatment of Early-Onset Schizophrenia Spectrum Disorders (TEOSS): Rationale, Design, and Methods

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    McClellan, Jon; Sikich, Linmarie; Findling, Robert L.; Frazier, Jean A.; Vitiello, Benedetto; Hlastala, Stefanie A.; Williams, Emily; Ambler, Denisse; Hunt-Harrison, Tyehimba; Maloney, Ann E.; Ritz, Louise; Anderson, Robert; Hamer, Robert M.; Lieberman, Jeffrey A.

    2007-01-01

    Objective: The Treatment of Early Onset Schizophrenia Spectrum Disorders Study is a publicly funded clinical trial designed to compare the therapeutic benefits, safety, and tolerability of risperidone, olanzapine, and molindone in youths with early-onset schizophrenia spectrum disorders. The rationale, design, and methods of the Treatment of Early…

  6. Gestational length affects neurocognition in early-onset schizophrenia.

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    Teigset, Charlotte M; Mohn, Christine; Rund, Bjørn Rishovd

    2016-10-30

    Obstetric complications (OC) have been linked to an increased risk for schizophrenia in offspring, especially in early-onset schizophrenia (EOS). Extensive cognitive deficits occur in EOS, although no study has yet to investigate the relationship between OC and cognition in EOS. This study aims to examine the frequency of OC in EOS compared to controls, and also investigates the relationship between OC and neurocognitive dysfunction in the two groups. Nineteen EOS patients and 53 healthy controls were tested with the MATRICS Consensus Cognitive Battery (MCCB), and the cognitive measures were combined with OC data from the Norwegian Birth Registry. The results indicated no group differences in OC in EOS and healthy controls, but a shorter gestational length in the EOS group led to significant decreases in the overall neurocognitive composite score, and in processing speed. This suggests that the poorer neuropsychological performances commonly found in EOS may be partly attributable to the length of gestation. The worsened neurocognitive functioning did not appear among controls, so gestational length had a different impact on the two groups. Our findings indicated that a shorter gestational length did not increase the risk for developing EOS, but did significantly affect the cognitive difficulties in this group.

  7. Global and Temporal Cortical Folding in Patients with Early-Onset Schizophrenia

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    Penttila, Jani; Paillere-Martinot, Marie-Laure; Martinot, Jean-Luc; Mangin, Jean-Francois; Burke, Lisa; Corrigall, Richard; Frangou, Sophia; Cachia, Arnaud

    2008-01-01

    Disturbances in the temporal lobes and alterations in cortical folding in adult on-set schizophrenia are studied using magnetic resonance T1 images of 51 patients. The study showed that patients with early on-set schizophrenia had lower global sulcal indices in both hemispheres and the left collateral sulcus has a lower sulcal index irrespective…

  8. Global and Temporal Cortical Folding in Patients with Early-Onset Schizophrenia

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    Penttila, Jani; Paillere-Martinot, Marie-Laure; Martinot, Jean-Luc; Mangin, Jean-Francois; Burke, Lisa; Corrigall, Richard; Frangou, Sophia; Cachia, Arnaud

    2008-01-01

    Disturbances in the temporal lobes and alterations in cortical folding in adult on-set schizophrenia are studied using magnetic resonance T1 images of 51 patients. The study showed that patients with early on-set schizophrenia had lower global sulcal indices in both hemispheres and the left collateral sulcus has a lower sulcal index irrespective…

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

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    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.

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

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    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

  11. A systematic review of the long-term outcome of early onset schizophrenia

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    Clemmensen, Lars; Vernal, Ditte Lammers; Steinhausen, Hans-Christoph

    2012-01-01

    of onset in these studies was 10 years, small to moderate for more unfavourable outcomes in males, and small to large for worse outcomes in studies including patients diagnosed before 1970. CONCLUSIONS: In contrast to the adult manifestation, the early manifestation of schizophrenia in childhood......ABSTRACT: BACKGROUND: The current review analyzes the long-term outcome and prognosis of early onset schizophrenia based on previously published studies onset schizophrenia based on previously published studies in 1980. METHODS: A systematic search of articles published in the English......-language literature after 1980 identified a total of 21 studies, which included 716 patients who were either suffering from early onset schizophrenia (EOS) or both EOS and other psychotic disorders (MIX). The authors of the current review scored the outcome as either "good," "moderate," or "poor." The mean age...

  12. Association analysis of the tyrosine hydroxylase gene polymorphisms with early-onset schizophrenia in Chinese population

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    吕钦谕

    2014-01-01

    Objective To investigate the relationship between the tyrosine hydroxylase(TH)gene and early-onset schizophrenia in Chinese Han population.Methods To tag single nucleotide polymorphisms(tag SNPs)rs2070762,rs6356 and rs11042978 in the TH gene were genotyped in 315 early-onset schizophrenics(188 male patients,127 female patients)and 391 controls subjects

  13. Cortisol and ACTH levels in drug-naive adolescents with first-episode early onset schizophrenia.

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    Şimşek, Şeref; Gençoğlan, Salih; Yüksel, Tuğba; Aktaş, Hüseyin

    2017-03-01

    The aim of this study was to investigate serum levels of cortisol and adrenocorticotropic hormone in adolescents with first-episode early onset schizophrenia. A total of 23 adolescent patients, who did not receive prior therapy and who were diagnosed with psychosis according to DSM-IV, were included. Kiddie-Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version, Positive and Negative Symptom Scale, and Clinical Global Impression Scale were conducted with the participants. No significant differences were found between the patients and the control subjects in serum cortisol and adrenocorticotropic hormone levels (P > .05). Our study's findings do not support the hypothesis of increased hypothalamic-pituitary-adrenal axis activity in first-episode early onset schizophrenia.

  14. Toxoplasma gondii as a Risk Factor for Early-Onset Schizophrenia: Analysis of Filter Paper Blood Samples Obtained at Birth

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    Mortensen, Preben Bo; Nørgaard-Pedersen, Bent; Waltoft, Berit Lindum

    2007-01-01

    of infection and other schizophrenia-like disorders or affective disorders. CONCLUSIONS: Our study supports an association between Toxoplasma gondii and early-onset schizophrenia. Further studies are needed to establish if the association is causal and if it generalizes to cases with onset after age 18...

  15. Toxoplasma gondii as a Risk Factor for Early-Onset Schizophrenia: Analysis of Filter Paper Blood Samples Obtained at Birth

    DEFF Research Database (Denmark)

    Mortensen, Preben Bo; Nørgaard-Pedersen, Bent; Waltoft, Berit Lindum

    2006-01-01

    of infection and other schizophrenia-like disorders or affective disorders. CONCLUSIONS: Our study supports an association between T gondii and early-onset schizophrenia. Further studies are needed to establish if the association is causal and if it generalizes to cases with onset after age 18....

  16. Familial liability, obstetric complications and childhood development abnormalities in early onset schizophrenia: a case control study

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    Lucarelli Elisabetta

    2011-04-01

    Full Text Available Abstract Background Genetic and environmental risk factors and gene-environment interactions are linked to higher likelihood of developing schizophrenia in accordance with the neurodevelopmental model of disease; little is known about risk factors and early development in early-onset schizophrenia (EOS and very early-onset schizophrenia (VEOS. Methods We present a case-control study of a sample of 21 patients with EOS/VEOS and a control group of 21 patients with migraine, recruited from the Child Neuropsychiatry Unit, Department of Neurologic and Psychiatric Science, University of Bari, Italy. The aim was to assess the statistical association between VEOS/EOS and family history for psychiatric disorders, obstetric complications and childhood developmental abnormalities using 2 × 2 tables and a Chi Squared or Fisher test. Results The results show a statistical association between EOS/VEOS and schizophrenia and related disorders (P = 0.02 and personality disorders (P = 0.003 in relatives, and between EOS/VEOS and developmental abnormalities of early relational skills (P = 0.008 and learning (P = 0.04; there is not a statistically relevant difference between cases and controls (P > 0.05 for any obstetric complications (pre, peri and postpartum. Conclusions This study confirms the significant role of familial liability but not of obstetric complications in the pathogenesis of VEOS/EOS; the association between childhood developmental abnormalities and EOS/VEOS supports the neurodevelopmental model of disease.

  17. Risk for Early-Onset Schizophrenia Assessed via Gray-Matter Distributions

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    Christensen, James D.

    2005-01-01

    Automated image analysis algorithms were used to measure regional gray matter volumes in children with early-onset schizophrenia. Logistic regression analysis of gray matter volumes within Brodman areas was used to test the ability to predict whether a subject was normal or schizophrenic. The ROC area-under-the-curve was 0.84 ± 0.15 across the 10 cross validation groups indicating good discrimination between schizophrenic and normal subjects.

  18. Risk for early-onset schizophrenia assessed via gray-matter distributions.

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    Christensen, James D

    2005-01-01

    Automated image analysis algorithms were used to measure regional gray matter volumes in children with early-onset schizophrenia. Logistic regression analysis of gray matter volumes within Brodman areas was used to test the ability to predict whether a subject was normal or schizophrenic. The ROC area-under-the-curve was 0.84 +/- 0.15 across the 10 cross validation groups indicating good discrimination between schizophrenic and normal subjects.

  19. A Meta-Analysis of Neuropsychological Functioning in Patients with Early Onset Schizophrenia and Pediatric Bipolar Disorder

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    Nieto, Rebeca Garcia; Castellanos, F. Xavier

    2011-01-01

    Despite the nosological distinction between bipolar disorder and schizophrenia, there is increasing evidence that these conditions share phenomenological characteristics. To examine the similarities in their patterns of cognitive impairment, we conducted a meta-analysis from 12 studies of Early Onset Schizophrenia (EOS) and 12 studies of Pediatric…

  20. A Meta-Analysis of Neuropsychological Functioning in Patients with Early Onset Schizophrenia and Pediatric Bipolar Disorder

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    Nieto, Rebeca Garcia; Castellanos, F. Xavier

    2011-01-01

    Despite the nosological distinction between bipolar disorder and schizophrenia, there is increasing evidence that these conditions share phenomenological characteristics. To examine the similarities in their patterns of cognitive impairment, we conducted a meta-analysis from 12 studies of Early Onset Schizophrenia (EOS) and 12 studies of Pediatric…

  1. Digging Deeper Using Neuroimaging Tools Reveals Important Clues to Early-Onset Schizophrenia

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    Kumra, Sanjiv

    2008-01-01

    The article describes the use of structural neuroimaging to understand the psychopathology of childhood-onset schizophrenia. Results showed an increase in lateral volumes, reduced total and regional volumes of gray matter in the cortex and increased basal ganglia volumes as in adult-onset schizophrenia in comparison with healthy subjects.

  2. Hormesis, cellular stress response and neuroinflammation in schizophrenia: Early onset versus late onset state.

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    Calabrese, Vittorio; Giordano, James; Crupi, Rosalia; Di Paola, Rosanna; Ruggieri, Martino; Bianchini, Rio; Ontario, Maria Laura; Cuzzocrea, Salvatore; Calabrese, Edward J

    2017-05-01

    Abnormal redox homeostasis and oxidative stress have been proposed to play a role in the etiology of several neuropsychiatric spectrum disorders. Emerging interest has recently focused on markers of oxidative stress and neuroinflammation in schizophrenic spectrum disorders, at least in particular subgroups of patients. Altered expression of genes related to oxidative stress, oxidative damage to DNA, protein and lipids, as well as reduced glutathione levels in central and peripheral tissues could act synergistically, and contribute to the course of the disease.  Herein, we discuss cellular mechanisms that may be operative in neuroinflammation and contributory to schizophrenia. We address modulation of endogenous cellular defense mechanisms as a potentially innovative approach to therapeutics for schizophrenia, and other neuropsychiatric conditions that are associated with neuroinflammation. Specifically, we discuss the emerging role of heme oxygenase as prominent member of neuroprotective network in redox stress responsive mechanisms, as well as the importance of glutathione relevant in schizophrenia pathophysiology. Finally we introduce the hormetic dose response concept as relevant and important to neuroprotection, and review hormetic mechanisms as possible approaches to manipulation of neuroinflammatory targets that may be viable for treating schizophrenia spectrum disorders. © 2016 Wiley Periodicals, Inc.

  3. A systematic review of the long-term outcome of early onset schizophrenia

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    Clemmensen Lars

    2012-09-01

    Full Text Available Abstract Background The current review analyzes the long-term outcome and prognosis of early onset schizophrenia based on previously published studies in 1980. Methods A systematic search of articles published in the English-language literature after 1980 identified a total of 21 studies, which included 716 patients who were either suffering from early onset schizophrenia (EOS or both EOS and other psychotic disorders (MIX. The authors of the current review scored the outcome as either “good,” “moderate,” or “poor.” The mean age of onset in these studies was Results In general, the outcome in studies with EOS is worse than the outcome in MIX studies. Only 15.4% of the patients in EOS studies versus 19.6% of the patients in MIX studies experienced a “good” outcome. In contrast, 24.5% of the patients in EOS studies versus 33.6% in MIX studies experienced a “moderate” outcome, and 60.1% in EOS studies versus 46.8% in MIX studies experienced a “poor” outcome. The authors identified various significant effects on outcome. In EOS, the findings were significantly affected by sample attrition, indicating that in studies with a high dropout rate, fewer patients experienced a “moderate” outcome, and more patients experienced a “poor” outcome; however, the effect sizes were small. Furthermore, the effects were also small and more favourable for specific functioning measures, as opposed to more global measures, small to moderate in terms of worse outcomes for follow-up periods >10 years, small to moderate for more unfavourable outcomes in males, and small to large for worse outcomes in studies including patients diagnosed before 1970. Conclusions In contrast to the adult manifestation, the early manifestation of schizophrenia in childhood and adolescence still carries a particularly poor prognosis. According to these aggregated data analyses, longer follow-up periods, male sex, and patients having been diagnosed before 1970

  4. Association analysis of the brain-derived neurotrophic factor gene polymorphisms with early-onset schizophrenia in the Chinese population

    Institute of Scientific and Technical Information of China (English)

    易正辉

    2012-01-01

    Objective To investigate the relationship between the brain-derived neurotrophic factor (BDNF) gene Tag SNPs(rs 11030101 and rs6265) and early-onset schizophrenia in the Chinese Han population. Methods The tag single nucleotide polymorphisms (tag SNPs) rs11030101 and rs6265 in the BDNF gene were genotyped

  5. "I Need a Cigarette"--The Effects of Cigarette Smoking on Depression and Anxiety of Youth with Early Onset Schizophrenia

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    Chen, Ya-Ling; Rittner, Barbara; Maguin, Eugene; Dziadaszek, Shannon

    2017-01-01

    The aim of this research was to examine effects of cigarette smoking on depression and anxiety among children and adolescents (youth) with early onset schizophrenia and/or psychosis. Data were obtained from the national evaluation of the Comprehensive Community Mental Health Services for Children and Their Families Program (CMHS Program). Cubic…

  6. Facial, vocal and cross-modal emotion processing in early-onset schizophrenia spectrum disorders.

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    Giannitelli, Marianna; Xavier, Jean; François, Anne; Bodeau, Nicolas; Laurent, Claudine; Cohen, David; Chaby, Laurence

    2015-10-01

    Recognition of emotional expressions plays an essential role in children's healthy development. Anomalies in these skills may result in empathy deficits, social interaction difficulties and premorbid emotional problems in children and adolescents with schizophrenia. Twenty-six subjects with early onset schizophrenia spectrum (EOSS) disorders and twenty-eight matched healthy controls (HC) were instructed to identify five basic emotions and a neutral expression. The assessment entailed presenting visual, auditory and congruent cross-modal stimuli. Using a generalized linear mixed model, we found no significant association for handedness, age or gender. However, significant associations emerged for emotion type, perception modality, and group. EOSS patients performed worse than HC in uni- and cross-modal emotional tasks with a specific negative emotion processing impairment pattern. There was no relationship between emotion identification scores and positive or negative symptoms, self-reported empathy traits or a positive history of developmental disorders. However, we found a significant association between emotional identification scores and nonverbal communication impairments. We conclude that cumulative dysfunctions in both nonverbal communication and emotion processing contribute to the social vulnerability and morbidity found in youths who display EOSS disorder.

  7. Impaired Verbal Learning Is Associated with Larger Caudate Volumes in Early Onset Schizophrenia Spectrum Disorders.

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    Monica Juuhl-Langseth

    Full Text Available Both brain structural abnormalities and neurocognitive impairments are core features of schizophrenia. We have previously reported enlargements in subcortical brain structure volumes and impairment of neurocognitive functioning as measured by the MATRICS Cognitive Consensus Battery (MCCB in early onset schizophrenia spectrum disorders (EOS. To our knowledge, no previous study has investigated whether neurocognitive performance and volumetric abnormalities in subcortical brain structures are related in EOS.Twenty-four patients with EOS and 33 healthy controls (HC were included in the study. Relationships between the caudate nucleus, the lateral and fourth ventricles volumes and neurocognitive performance were investigated with multivariate linear regression analyses. Intracranial volume, age, antipsychotic medication and IQ were included as independent predictor-variables.The caudate volume was negatively correlated with verbal learning performance uniquely in the EOS group (r=-.454, p=.034. There were comparable positive correlations between the lateral ventricular volume and the processing speed, attention and reasoning and problem solving domains for both the EOS patients and the healthy controls. Antipsychotic medication was related to ventricular enlargements, but did not affect the brain structure-function relationship.Enlargement of the caudate volume was related to poorer verbal learning performance in patients with EOS. Despite a 32% enlargement of the lateral ventricles in the EOS group, associations to processing speed, attention and reasoning and problem solving were similar for both the EOS and the HC groups.

  8. Voxel-based structural magnetic resonance imaging (MRI study of patients with early onset schizophrenia

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    Suzuki Katsuaki

    2008-12-01

    Full Text Available Abstract Background Investigation into the whole brain morphology of early onset schizophrenia (EOS to date has been sparse. We studied the regional brain volumes in EOS patients, and the correlations between regional volume measures and symptom severity. Methods A total of 18 EOS patients (onset under 16 years and 18 controls matched for age, gender, parental socioeconomic status, and height were examined. Voxel-based morphometric analysis using the Brain Analysis Morphological Mapping (BAMM software package was employed to explore alterations of the regional grey (GM and white matter (WM volumes in EOS patients. Symptoms were assessed using the Positive and Negative Syndrome Scale (PANSS. Results EOS patients had significantly reduced GM volume in the left parahippocampal, inferior frontal, and superior temporal gyri, compared with the controls. They also had less WM volume in the left posterior limb of the internal capsule and the left inferior longitudinal fasciculus. The positive symptom score of PANSS (higher values corresponding to more severe symptoms was negatively related to GM volume in the bilateral posterior cingulate gyrus. The negative symptom score was positively correlated with GM volume in the right thalamus. As for the association with WM volume, the positive symptom score of PANSS was positively related to cerebellar WM (vermis region, and negatively correlated with WM in the brain stem (pons and in the bilateral cerebellum (hemisphere region. Conclusion Our findings of regional volume alterations of GM and WM in EOS patients coincide with those of previous studies of adult onset schizophrenia patients. However, in brain regions that had no overall structural differences between EOS patients and controls (that is, the bilateral posterior cingulate gyrus, the right thalamus, the cerebellum, and the pons, within-subject analysis of EOS patients alone revealed that there were significant associations of the volume in these areas

  9. Neuropsychological deficits in the prodromal phase and course of an early-onset schizophrenia. A case report.

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    Puetz, Vanessa; Günther, Thomas; Kahraman-Lanzerath, Berrak; Herpertz-Dahlmann, Beate; Konrad, Kerstin

    2014-05-01

    Although clear advances have been achieved in the study of early-onset schizophrenia (EOS), little is known to date about premorbid and prodromal neuropsychological functioning in EOS. Here, we report on a case of an adolescent male with EOS who underwent neuropsychological testing before and after illness onset. Marked cognitive deficits in the domains of attention, set-shifting, and verbal memory were present both pre-onset and during the course of schizophrenia, though only deficits in verbal memory persisted after illness-onset and antipsychotic treatment. The findings of this case study suggest that impairments in the verbal memory domain are particularly prominent symptoms of cognitive impairment in prodromal EOS and persist in the course of the disorder, which further demonstrates the difficult clinical situation of adequate schooling opportunities for adolescent patients with EOS.

  10. Predictors of treatment response and drop out in the Treatment of Early-Onset Schizophrenia Spectrum Disorders (TEOSS) study.

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    Gabriel, Daniel; Jakubovski, Ewgeni; Taylor, Jerome H; Artukoglu, Bekir B; Bloch, Michael H

    2017-09-01

    The Treatment of Early-Onset Schizophrenia Spectrum Disorders (TEOSS) compared the efficacy of risperidone, olanzapine, and molindone over 8 weeks in 119 youths age 8-19 years with early-onset schizophrenia or schizoaffective disorder. From this large dataset, we examined predictors of treatment response and drop out using stepwise regression and receiver operating characteristics curve (ROC) analysis. Treatment response was defined as having both a ≥ 20% improvement in Positive and Negative Syndrome Scale (PANSS) score and a Clinical Global Impression-Improvement (CGI-I) score drop out. Our results suggest youth with more severe psychotic symptoms are most likely to benefit from treatment with antipsychotics and that aggressive youth may require additional support to improve treatment adherence. Further investigation is needed to understand potentially modifiable predictors of response like early education programs. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  11. A comparative study of cognitive functions between early-onset schizophrenia and non-early-onset schizophrenia%早发与非早发精神分裂症认知功能比较研究

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    邢晓萍; 徐林群; 卢卫红; 吕钦瑜; 徐庆华; 易正辉

    2012-01-01

    Objective To compare the cognitive impairment between early-onset schizophrenia and non-early-onset schizophrenia. Methods The chronic schizophrenics (the clinical course of disease > 5 years) who had received clozapine treatment in more than 2 years were recruited. The Positive and Negative Syndrome Scale (PANSS), Neuropsychological Status (RBANS) and Treatment Emergent Symptoms Scale (TESS) were used to assess therapeutic efficacy, cognitive function and side effects. Results (1) 189 chronic schizophrenics were recruited and divided into two groups, namely early - onset schizophrenia group (91 subjects) and the non-early-onset schizophrenia group (98 subjects). There was a significant difference in age of onset and age of subjects between the two groups,but no difference in gender, educational level,duration of illness,family history,duration and the dose of clozapine. (2)No significant difference was found in the scores of PANSS and TESS between early-onset schizophrenia group and non-early-onset schizophrenia group (P > 0.05). (3)There was significant difference in total score and the Immediate Memory Factor score and Language Factor score of RBANS between the two groups. Conclusions The early-onset schizophrenia patients have more severe cognitive impairment than nonearly-onset schizophrenia patients,especially on immediate memory and language.%目的 比较早发与非早发精神分裂症患者认知功能缺损特征.方法 对长期服氯氮平治疗(持续服用时间超过2年)且病程>5年的住院精神分裂症患者按起病年龄分为两组,分别为早发精神分裂症患者组(起病年龄≤18岁)及非早发精神分裂症患者组(起病年龄>18岁),进行阳性和阴性症状量表(PANSS)、重复性成套神经心理状态测验(Repeatable Battery for the Assessment of Neuropsychological Status,RBANS)及副反应量表(TESS)评定.结果 (1)共纳入精神分裂症患者189例,其中早发精神分裂症患者组91例,非

  12. The psychopathological and psychosocial outcome of early-onset schizophrenia: Preliminary data of a 13-year follow-up

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    Mehler-Wex Claudia

    2008-02-01

    Full Text Available Abstract Background Relatively little is known about the long-term psychopathological and psychosocial outcome of early-onset schizophrenia. The existing literature describes more severe courses of illness in these patients compared with adult-onset schizophrenia. This article reports preliminary data of a study exploring the outcome of early-onset schizophrenia 13.4 years (mean after first admission. Predictors for interindividual outcomes were investigated. Methods We retrospectively assessed 27 former patients (mean age at first admission 15.5 years, SD = 2.0 that were consecutively admitted to the Department of Child and Adolescent Psychiatry at the University of Wuerzburg between 1990 and 2000. A multidimensional approach was chosen to assess the outcome consisting of a mail survey including different questions about psychopathological symptoms, psychosocial parameters, and standardized self-reports (ESI and ADS. Results Concerning the psychopathological outcome, 22.2% reported having acute schizophrenic symptoms. Almost one third (30.8% described symptoms of depression and 37.0% reported having tried to commit suicide or seriously thought about it. 77.8% of the former patients were still in outpatient treatment. Compared to the general population, the number of patients without a school graduation was relatively high (18.5%. Almost half of participants still live with their parents (48.1% or in assisted or semi-assisted living conditions (33.3%. Only 18.5% were working in the open market. Conclusion Schizophrenia with an early onset has an unfavourable prognosis. Our retrospective study of the psychopathological and psychosocial outcome concludes with a generally poor rating.

  13. Decrease in temporal gyrus gray matter volume in first-episode, early onset schizophrenia: an MRI study.

    Directory of Open Access Journals (Sweden)

    Jinsong Tang

    Full Text Available BACKGROUND: Loss of gray matter has been previously found in early-onset schizophrenic patients. However, there are no consistent findings between studies due to different methods used to measure grey matter volume/density and influences of confounding factors. METHODS: The volume of gray matter (GM was measured in 29 first episode early-onset schizophrenia (EOS and 34 well-matched healthy controls by using voxel-based morphometry (VBM. Psychotic symptoms were assessed using the Positive and Negative Syndrome Scale (PANSS. The correlations between the GM volume and PANSS scores, age of psychosis onset, duration of psychosis, and chlorpromazine (CPZ equivalent value were investigated. RESULTS: Relative to healthy subjects, the patients with first episode EOS showed significantly lower GM volume in the left middle and superior temporal gyrus. The loss of GM volume negatively correlated with PANSS-positive symptoms (p = 0.002, but not with PANSS-negative symptoms, PANSS-general psychopathology, and PANSS-total score. No significant correlation was found between GM volume and age of psychosis onset, duration of psychosis, and CPZ equivalent value. CONCLUSION: Patients with first episode EOS have evidence of reduced GM in the left middle and superior temporal gyrus. Structural abnormalities in the left middle and superior temporal gyrus may contribute to the pathophysiology of schizophrenia.

  14. Patterns and correlates of expressed emotion, perceived criticism, and rearing style in first admitted early-onset schizophrenia spectrum disorders.

    Science.gov (United States)

    von Polier, Georg G; Meng, Heiner; Lambert, Martin; Strauss, Monika; Zarotti, Gianni; Karle, Michael; Dubois, Reinmar; Stark, Fritz-Michael; Neidhart, Sibylle; Zollinger, Ruedi; Bürgin, Dieter; Felder, Wilhelm; Resch, Franz; Koch, Eginhard; Schulte-Markwort, Michael; Schimmelmann, Benno G

    2014-11-01

    The aim of this study was to assess patterns and correlates of family variables in 31 adolescents treated for their first episode of a schizophrenia spectrum disorder (early-onset schizophrenia [EOS]). Expressed emotion, perceived criticism, and rearing style were assessed. Potential correlates were patient psychopathology, premorbid adjustment, illness duration, quality of life (QoL), sociodemographic variables, patient and caregiver "illness concept," and caregiver personality traits and support. Families were rated as critical more frequently by patients than raters (55% vs. 13%). Perceived criticism was associated with worse QoL in relationship with parents and peers. An adverse rearing style was associated with a negative illness concept in patients, particularly with less trust in their physician. Future research should examine perceived criticism as a predictor of relapse and indicator of adolescents with EOS who need extended support and treatment. Rearing style should be carefully observed because of its link with patients' illness concept and, potentially, to service engagement and medication adherence.

  15. Childhood Onset Schizophrenia: Clinical Features, Course and Outcome

    Science.gov (United States)

    Sood, Mamta; Kattimani, Shivanand

    2008-01-01

    Schizophrenia in children is diagnosed by using adult criteria. Based on the age of onset, patients with childhood onset schizophrenia (COS) are subdivided into those with very early onset (before age 12-14 years) and those with early onset (between 14-17 years). The prevalence of COS is reported to be 1 in 10,000 before the age of 12 years;…

  16. Profile of cognitive deficits and associations with depressive symptoms and intelligence in chronic early-onset schizophrenia patients

    DEFF Research Database (Denmark)

    Jepsen, Jens Richardt Møllegaard; Fagerlund, Birgitte; Pagsberg, Anne Katrine

    2013-01-01

    -onset schizophrenia patients, assess the potential associations with depressive symptom severity, and examine whether cognitive deficits within several domains reflect intelligence impairments. This study compared attention, visual-construction, aspects of visual and verbal memory, and executive functions in chronic......-onset schizophrenia, significant deficits were observed in all specific cognitive functions. The profile of cognitive deficits was jagged, and visual-construction, attention, and one aspect of verbal memory (verbal stories recall) were differentially impaired. Deficits of visual recall, visual recognition...

  17. Theory of mind in adolescents with early-onset schizophrenia: correlations with clinical assessment and executive functions.

    Science.gov (United States)

    Bourgou, Soumaya; Halayem, Soumeyya; Amado, Isabelle; Triki, Racha; Bourdel, Marie Chantal; Franck, Nicolas; Krebs, Marie Odile; Tabbane, Karim; Bouden, Asma

    2016-08-01

    We examined Theory of Mind (ToM) abilities in adolescents with early-onset schizophrenia (EOS) and their correlation with clinical findings and Executive Functions (EF). The ToM abilities of 12 adolescents with EOS were compared with those of healthy participants matched in age and educational level. The Moving Shapes Paradigm was used to explore ToM abilities in three modalities: random movement, goal-directed movement and ToM - scored on the dimensions of intentionality, appropriateness and length of each answer. EF was tested using Davidson's Battery and the clinical psychopathology with the Positive and Negative Syndrome Scale (PANSS). Adolescents with EOS were significantly more impaired than controls in the three dimensions evaluated for the goal-directed and ToM modalities. Regarding the random movement modality, the only difference was in appropriateness (pschizophrenia and attest the severity of these deficits in patients with EOS.

  18. The School Psychologist's Primer on Early Onset Schizophrenia: A Review of Research Regarding Epidemiology, Etiology, Assessment, and Treatment

    Science.gov (United States)

    Hernandez, Rafael J. C.; Rime, W. Jeremy; Jimerson, Shane R.

    2013-01-01

    The purpose of this article is to provide school psychologists and other educational professionals with important information regarding the epidemiology, etiology, assessment, and treatment of early onset schizophrenia (EOS). The central aim herein is to bring science to practice by succinctly highlighting key considerations for school…

  19. Comparison of history of adolescents with substance-induced psychosis, early onset schizophrenia and substance use disorders.

    Science.gov (United States)

    Matzova, Z; Skodacek, I; Suba, J; Bohmer, F

    2014-01-01

    The contribution contains a comparison of the history data of adolescent patients hospitalized at the Department of Child Psychiatry, Children´s Faculty Hospital in Bratislava with the diagnoses of Substance-Induced Psychosis (SIP), Early Onset Schizophrenia (EOS) and with Substance Use Disorders (SUD). SIP is rarely recorded and little documented by the age of 18. The etiology of this disorder is still relatively unclear. The data collection was carried out from patients hospitalized between January 1, 2001 and December 31, 2012. We recorded data from 20 patients hospitalized with SIP, 50 patients hospitalized with EOS, and 50 patients hospitalized with SUD. We collected and compared the data on family history, perinatal complications, early psychomotor development, data on psychical problems before their hospitalization, and presence of unfavorable life situations in their childhood. The data of adolescents with SIP are more similar to the data of patients with EOS than patients with SUD in terms of the burden of family history, the frequency of complications during pregnancy and delivery, and the frequency of the subsequent early psychomotor impairment. In terms of unfavorable life situations and psychological problems for which they were monitored in a psychiatric ward before their hospitalization with SIP, their data are more similar to those of patients with SUD than with EOS (Tab. 3, Fig. 1, Ref. 21).

  20. Abnormal Functional Activation and Connectivity in the Working Memory Network in Early-Onset Schizophrenia

    Science.gov (United States)

    Kyriakopoulos, Marinos; Dima, Danai; Roiser, Jonathan P.; Corrigall, Richard; Barker, Gareth J.; Frangou, Sophia

    2012-01-01

    Objective: Disruption within the working memory (WM) neural network is considered an integral feature of schizophrenia. The WM network, and the dorsolateral prefrontal cortex (DLPFC) in particular, undergo significant remodeling in late adolescence. Potential interactions between developmental changes in the WM network and disease-related…

  1. Sex Differences in Facial, Prosodic, and Social Context Emotional Recognition in Early-Onset Schizophrenia

    Directory of Open Access Journals (Sweden)

    Julieta Ramos-Loyo

    2012-01-01

    Full Text Available The purpose of the present study was to determine sex differences in facial, prosodic, and social context emotional recognition in schizophrenia (SCH. Thirty-eight patients (SCH, 20 females and 38 healthy controls (CON, 20 females participated in the study. Clinical scales (BPRS and PANSS and an Affective States Scale were applied, as well as tasks to evaluate facial, prosodic, and within a social context emotional recognition. SCH showed lower accuracy and longer response times than CON, but no significant sex differences were observed in either facial or prosody recognition. In social context emotions, however, females showed higher empathy than males with respect to happiness in both groups. SCH reported being more identified with sad films than CON and females more with fear than males. The results of this study confirm the deficits of emotional recognition in male and female patients with schizophrenia compared to healthy subjects. Sex differences were detected in relation to social context emotions and facial and prosodic recognition depending on age.

  2. Sex Differences in Facial, Prosodic, and Social Context Emotional Recognition in Early-Onset Schizophrenia

    Science.gov (United States)

    Ramos-Loyo, Julieta; Mora-Reynoso, Leonor; Sánchez-Loyo, Luis Miguel; Medina-Hernández, Virginia

    2012-01-01

    The purpose of the present study was to determine sex differences in facial, prosodic, and social context emotional recognition in schizophrenia (SCH). Thirty-eight patients (SCH, 20 females) and 38 healthy controls (CON, 20 females) participated in the study. Clinical scales (BPRS and PANSS) and an Affective States Scale were applied, as well as tasks to evaluate facial, prosodic, and within a social context emotional recognition. SCH showed lower accuracy and longer response times than CON, but no significant sex differences were observed in either facial or prosody recognition. In social context emotions, however, females showed higher empathy than males with respect to happiness in both groups. SCH reported being more identified with sad films than CON and females more with fear than males. The results of this study confirm the deficits of emotional recognition in male and female patients with schizophrenia compared to healthy subjects. Sex differences were detected in relation to social context emotions and facial and prosodic recognition depending on age. PMID:22970365

  3. Course of intelligence deficits in early onset, first episode schizophrenia: a controlled, 5-year longitudinal study

    DEFF Research Database (Denmark)

    Jepsen, Jens Richardt Moellegaard; Fagerlund, Birgitte; Pagsberg, Anne Katrine

    2010-01-01

    ) from their first psychotic episode to 5 years of post onset with that of healthy controls (N = 35) and patients who at baseline had been diagnosed with other non-affective psychoses (N = 8). The same version of a Wechsler Intelligence Scale was administered at both baseline and follow-up assessments...... FSIQ change was observed between patients with EOS and patients with other non-affective psychoses, although this result must be interpreted with caution due to the small sample sizes. The results suggest abnormally slow acquisition of new intellectual information and skills in EOS patients during...

  4. 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

    -organic, non-affective psychoses (EOP) (N = 11). Speed of processing of executive functions, set shifting, and attention improved significantly in the healthy controls and reflected continuous functional maturation during late adolescence and early adulthood. The developmental progression of attention and set...

  5. A Comparative Analysis and Study of Early Onset and Late Onset Schizophrenia%早发与晚发性精神分裂症的对照分析与研究

    Institute of Scientific and Technical Information of China (English)

    刘琳琳; 王东明

    2016-01-01

    目的:分析早发与晚发性精神分裂症的对照情况。方法选择2015年2月~2016年4月我院收治的早发与晚发性精神分裂症患者,各60例,对120例精神分裂症患者的临床资料进行分析。结果两组在语言障碍、行为障碍、思维障碍等方面进行比较,差异有统计意义(P<0.05)。结论早发性精神分裂症患者所表现出的精神症状较多,发病年龄也多为低龄,发病急,晚发性精神分裂症的症状相对较轻。%Objective To analyze the control of early onset and late onset schizophrenia.Methods The clinical data of 120 patients with schizophrenia in our hospital from February 2015 to April 2016 in our hospital were analyzed with 60 cases of early onset and late onset schizophrenia.Results The two groups had statistical significance (P<0.05) in terms of language barriers, behavioral disorders, and mental disorders.ConclusionEarly-onset mental division exhibited by patients with mental symptoms more, age of onset is younger, the incidence of acute late mental division of disease symptoms are relatively mild.

  6. Neuroimaging findings in late-onset schizophrenia and bipolar disorder.

    Science.gov (United States)

    Hahn, Changtae; Lim, Hyun Kook; Lee, Chang Uk

    2014-03-01

    In recent years, there has been an increasing interest in late-onset mental disorders. Among them, geriatric schizophrenia and bipolar disorder are significant health care risks and major causes of disability. We discussed whether late-onset schizophrenia (LOS) and late-onset bipolar (LOB) disorder can be a separate entity from early-onset schizophrenia (EOS) and early-onset bipolar (EOB) disorder in a subset of late-life schizophrenia or late-life bipolar disorder through neuroimaging studies. A literature search for imaging studies of LOS or LOB was performed in the PubMed database. Search terms used were "(imaging OR MRI OR CT OR SPECT OR DTI OR PET OR fMRI) AND (schizophrenia or bipolar disorder) AND late onset." Articles that were published in English before October 2013 were included. There were a few neuroimaging studies assessing whether LOS and LOB had different disease-specific neural substrates compared with EOS and EOB. These researches mainly observed volumetric differences in specific brain regions, white matter hyperintensities, diffusion tensor imaging, or functional neuroimaging to explore the differences between LOS and LOB and EOS and EOB. The aim of this review was to highlight the neural substrates involved in LOS and LOB through neuroimaging studies. The exploration of neuroanatomical markers may be the key to the understanding of underlying neurobiology in LOS and LOB.

  7. The rationale for early intervention in schizophrenia and related disorders

    DEFF Research Database (Denmark)

    Nordentoft, Merete; Jeppesen, Pia; Petersen, Lone

    2009-01-01

    Abstract Aim: To examine the rationale and evidence supporting an early intervention approach in schizophrenia. Methods: A selective literature review was conducted. Results: During the onset of schizophrenia, there is often a significant delay between the emergence of psychotic symptoms and the ......Abstract Aim: To examine the rationale and evidence supporting an early intervention approach in schizophrenia. Methods: A selective literature review was conducted. Results: During the onset of schizophrenia, there is often a significant delay between the emergence of psychotic symptoms...

  8. Violence in childhood-onset schizophrenia

    Directory of Open Access Journals (Sweden)

    Susan Lurie

    2013-02-01

    Full Text Available Violence is elevated in older adolescents and adults with schizophrenia; however, little is known about younger children. This report focuses on rates of violence in younger children with schizophrenic-spectrum illnesses. A retrospective review of structured diagnostic interviews from a case series of 81 children, ages 4-15 years of age, with childhood onset of schizophrenic-spectrum illness is reported. Seventy-two percent of children had a history of violent behavior, including 25 children (31% with a history of severe violence. Of those with a history of violence, 60% had a least one episode of violence that did not appear to be in response to an external stimulus (internally driven violence. There was no significant impact of age or gender. For many children, these internally driven violent episodes were rare and unpredictable, but severe. Similar to what is found in adolescents and adults, violence is common in children with schizophrenic-spectrum illnesses. General violence prevention strategies combined with early identification and treatment of childhood psychotic illnesses may decrease the morbidity associated with childhood psychotic violence.

  9. Age at onset mixture analysis and systematic comparison in schizophrenia spectrum disorders: Is the onset heterogeneity dependent on heterogeneous diagnosis?

    Science.gov (United States)

    Nowrouzi, Behdin; Kamhi, Roy; Hu, Jayi; Kennedy, James L; Matmari, Michelle; De Luca, Vincenzo

    2015-05-01

    A major obstacle to the identification of the neurobiological correlates of schizophrenia is the substantial diagnostic heterogeneity of this disorder. Dividing schizophrenia into "early" and "late" subtypes may reduce heterogeneity and facilitate identification of biomarkers related to this disease. Our objective was to assess the presence of different sub-groups in schizophrenia by age at onset analysis. The participants in this study were 612 unrelated patients with schizophrenia. Admixture analysis was applied in order to identify a model of separate normal distributions of age at onset characterized by different means, variances and population proportions to evaluate the effect of winter birth and ethnicity on early onset schizophrenia. The best-fitting model suggested three subgroups with means and standard deviations of 17.11 ± 2.09, 21.96 ± 3.43 and 30.02 ± 7.1 years, comprising 34.6%, 42.6% and 22.8% of the sample respectively. We considered as predictors of early onset schizophrenia: male gender, winter birth, white ethnicity and positive family history for psychiatric disorders. Earlier onset was significantly associated with male gender. We also compared our age at onset distribution with those published in other studies and we found significant differences with several studies suggesting heterogeneity in age at onset that is likely influenced by diagnostic heterogeneity in applying the DSM-IV criteria. Overall, our study showed that a typical early onset schizophrenia patient is more likely to be a white male with cannabis abuse and positive family history of psychiatric disorders. The heterogeneity in reporting age at onset across different studies suggests the application of more stringent criteria in diagnosing schizophrenia. Copyright © 2015 Elsevier B.V. All rights reserved.

  10. [Chronic hallucinatory psychosis and late onset schizophrenia: the same entity?].

    Science.gov (United States)

    Dubertret, C; Gorwood, P; Adès, J

    1997-01-01

    The distinction between schizophrenia and chronic delusion syndromes (such as paraphrenia, late-paraphrenia and "Psychose Hallucinatoire Chronique") is currently used in France, although there is no international criteria (ICD 10 or DSM IV) for chronic delusion syndromes. It is thus worth analysing the literature in order to compare the differences between late-onset schizophrenia and "Psychose Hallucinatoire Chronique", and the similarities between young-onset schizophrenia and chronic delusion syndromes. Clinical investigations clearly differentiate "Psychose Hallucinatoire Chronique" and late-onset-schizophrenia from young-onset schizophrenia because they have more delusion and hallucinatory symptoms, less negative symptoms, better evolution, and better sensitivity to antipsychotic drugs. Epidemiological data show that "Psychose Hallucinatoire Chronique" and late-onset schizophrenia have both a different sex-ratio (around 7 women for 1 man) than young-onset schizophrenia (nearly 1 woman for 1 man), and that in "Psychose Hallucinatoire Chronique" and in late-onset schizophrenia, social withdrawal is frequently observed before onset of the disorder. Lastly, putative risk factors may be shared by "Psychose Hallucinatoire Chronique" and late-onset schizophrenia, and may isolate them from young-onset schizophrenia, for example regarding the oestradiol hypothesis (oestradiol enhance dopamine efficacy and delay the onset of delusion disorders), the impact of sensory handicaps (which may be clinically and experimentally associated with hallucinations), or the role of genetic and familial factors (with a familial concentration intermediate between the familial concentration of schizophrenia of schizophrenic proband, and the familial concentration of schizophrenia of control probands). In accordance with this review of the literature, the authors conclude that the absence of specific criteria for late-onset schizophrenia and/or "Psychose Hallucinatoire Chronique" In

  11. Inflexible minds: impaired attention switching in recent-onset schizophrenia.

    Directory of Open Access Journals (Sweden)

    Henderikus G O M Smid

    Full Text Available Impairment of sustained attention is assumed to be a core cognitive abnormality in schizophrenia. However, this seems inconsistent with a recent hypothesis that in schizophrenia the implementation of selection (i.e., sustained attention is intact but the control of selection (i.e., switching the focus of attention is impaired. Mounting evidence supports this hypothesis, indicating that switching of attention is a bigger problem in schizophrenia than maintaining the focus of attention. To shed more light on this hypothesis, we tested whether schizophrenia patients are impaired relative to controls in sustaining attention, switching attention, or both. Fifteen patients with recent-onset schizophrenia and fifteen healthy volunteers, matched on age and intelligence, performed sustained attention and attention switching tasks, while performance and brain potential measures of selective attention were recorded. In the sustained attention task, patients did not differ from the controls on these measures. In the attention switching task, however, patients showed worse performance than the controls, and early selective attention related brain potentials were absent in the patients while clearly present in the controls. These findings support the hypothesis that schizophrenia is associated with an impairment of the mechanisms that control the direction of attention (attention switching, while the mechanisms that implement a direction of attention (sustained attention are intact.

  12. Excess Early Mortality in Schizophrenia

    DEFF Research Database (Denmark)

    Laursen, Thomas Munk; Nordentoft, Merete; Mortensen, Preben Bo

    2014-01-01

    Schizophrenia is often referred to as one of the most severe mental disorders, primarily because of the very high mortality rates of those with the disorder. This article reviews the literature on excess early mortality in persons with schizophrenia and suggests reasons for the high mortality as ...

  13. [Clinical psychopathological research on late-onset schizophrenia--mainly patients with schizophrenia from a hospital psychiatric ward].

    Science.gov (United States)

    Yasuda, Manabu; Kato, Satoshi

    2009-01-01

    In the field of clinical psychiatry, cases of late-onset schizophrenia are often observed in the population of 40 years or older. Female patients seem to significantly predominate those diagnosed with late-onset schizophrenia. Generally, paranoid delusions of reference with family members, neighbors, and friends are observed as clinical features of such late-onset schizophrenia conditions. Medical treatment for such a condition is often effective and considered to improve the prognosis. The authors conducted clinical research at Jichi Medical University Hospital psychiatric ward involving 38 late-onset schizophrenia patients (7 males; 31 females) diagnosed over the age of 40 using DSM-IV-TR diagnostic criteria. Subjects were selected from 316 schizophrenia patients (164 males; 152 females) admitted to the hospital for schizophrenia treatment at some time during the 13 years from April 1, 1993 to March 31, 2006. Also, another 14 late-onset schizophrenia patients diagnosed over the age of 40 (1 male; 13 females), with additional investigation, were selected from 130 cases (50 males; 80 females) treated in related facilities at some time during the 2 years from April 1, 2004 to March 31, 2006. The investigation revealed the following results: (1) Cases showing an onset after the age of 40 comprised 12% of the total population. Female cases comprised 20.4%, being significantly higher than that of male cases (4.3%). Within the psychiatric ward, cases showing an onset after 40 made up 10.8% of the total population. Female cases comprised 16.3%, being significantly higher than that of male cases (2.0%). (2) The paranoid type comprised 55.3% of the total population of late-onset cases, being significantly higher than in early-onset cases younger than 40 years old. A total of 55.3% of late-onset cases also showed depressive symptoms, being significantly higher than in early-onset cases. (3) For late-onset, 55.3% of patients showed an introverted premorbid character, while

  14. Early Onset Werner Syndrome

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    Berna İmge Aydoğan

    2015-09-01

    Full Text Available Werner syndrome (WS is a rare autosomal recessive adult-onset progeroid disorder characterized by the early onset of aged-appearance and age-related metabolic disorders. Symptoms of premature aging usually first develop in the second-third decades of life. We report a 27-year-old female who was admitted to our clinic at the age of eighteen with hyperglycemia. She was diagnosed with diabetes and type 4 dyslipidemia at the age of seven. In her family history, her parents were first cousins and she had three healthy brothers. On her first physical examination; she had bird-like face appearance, global hair loss, beaked nose, short stature and she was overweight. She had global hair loss with gray and thin hair. Hoarseness of voice and hyperkeratosis of skin were observed. She had bilateral cataracts and moderate sensorineural hearing loss. On psychiatric examination, borderline mental retardation was detected. She had severe insulin resistance and hypertriglyceridemia despite levothyroxine, gemfibrozil, omega-3 and intensive insulin treatment. Routine lipid apheresis was performed to lower the triglyceride levels reaching 5256 mg/dL. She also had focal segmental glomerulosclerosis, hepatosteatosis, osteoporosis and epilepsy. Disease was accompanied by several congenital deformities, such as Rathke’s cleft cyst, angiomyolipoma and femoral neck hypoplasia. WS is a rare genetic disorder characterized by multiple endocrine manifestations as well as soft tissue changes. We present a case of early disturbances that were diagnosed before typical clinical signs and symptoms. We propose that WS should be kept in mind when type 2 diabetes and hyperlipidemia are diagnosed early in childhood. Turk Jem 2015; 19: 99-104

  15. 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...

  16. Association of ANK3 gene polymorphism with early-onset schizophrenia%锚蛋白重复序列3基因在早发性精神分裂症发生过程中的作用

    Institute of Scientific and Technical Information of China (English)

    袁爱花; 范娟; 禹顺英; 易正辉; 孙锦华; 杜亚松; 张晨; 李则挚; 张燕霞; 汪东祥; 刘漪

    2012-01-01

    Objective To investigate the association of ANK3 (Ankyrin repeat 3) gene polymorphism with the development of early-onset schizophrenia. Methods A single nucleotide polymorphism (rs10761482) of ankyrin repeat 3 (ANK3) gene was genotyped in 310 early-onset schizophrenic patients and 399 healthy controls, using TaqMan SNP Genotyping Assays. The association of the locus with early-onset schizophrenia and age of onset was analyzed. The prenatal information of the patients was collected to detect the interaction between the ANK3 gene and environmental factors. Results There was no statistically significant difference in genotype distribution of the rs10761482 locus between patients and controls (X2 = 5.410, P = 0.067). The frequency of the C allele of thia locus was significantly higher in patients than in controls (83.06% vs 78.07%, P = 0.019); The C allele was highly associated with an earlier age of onset compared with non-c allele (13.7 ± 0.1 years vs 16.1 ± 0.3 years, P = 0.028). There was no interaction between the ANK3 gene and environmental factors (P > 0.05). Conclusions ANK3 gene is associated with early-onset schizophrenia and re10761482 may play an important role in age of onset of schizophrenia.%目的 探讨锚蛋白重复序列3(Ankyrin repeat3,ANK3)基因在早发性精神分裂症发生过程中的作用.方法 采用TaqMan探针等位基因分型技术检测310例早发性精神分裂症患者和399例健康对照ANK3基因rs10761482位点多态性,分析该位点与早发性精神分裂症的关联及其与发病年龄的关系,并调查患者母亲怀孕早期的环境因素,进一步分析ANK3基因与环境因素的交互作用.结果 患者组与对照组ANK3基因rs10761482位点的基因型频率组间差异无统计学意义(x2=5.410,P=0.067),而患者组rs10761482 C等位基因频率高于对照组,有统计学意义(83.06% vs.78.07%,P=0.019);携带rs10761482 C等位基因患者发病年龄(13.7±0.1岁)明显早于不携带C

  17. Brain volume in male patients with recent onset schizophrenia with and without cannabis use disorders

    NARCIS (Netherlands)

    Koenders, L.; Machielsen, M.W.; van der Meer, F.J.; van Gasselt, A.C.; Meijer, C.J.; van den Brink, W.; Koeter, M.W.; Caan, M.W.; Cousijn, J.; den Braber, A.; van 't Ent, D.; Rive, M.M.; Schene, A.H.; van de Giessen, E.; Huyser, C.; de Kwaasteniet, B.P.; Veltman, D.J.; de Haan, L.

    2014-01-01

    BACKGROUND: Schizophrenia is highly comorbid with cannabis use disorders (CUDs), and this comorbidity is associated with an unfavourable course. Early onset or frequent cannabis use may influence brain structure. A key question is whether comorbid CUDs modulate brain morphology alterations associate

  18. Brain volume in male patients with recent onset schizophrenia with and without cannabis use disorders

    NARCIS (Netherlands)

    Koenders, L.; Machielsen, M.W.; Meer, F.J. van der; Gasselt, A.C. van; Meijer, C.J.W.; Brink, W. van den; Koeter, M.W.; Caan, M.W.; Cousijn, J.; Braber, A.; Ent, D. van 't; Rive, M.M.; Schene, A.H.; Giessen, E. van de; Huyser, C.; Kwaasteniet, B.P. de; Veltman, D.J.; Haan, L. de

    2015-01-01

    BACKGROUND: Schizophrenia is highly comorbid with cannabis use disorders (CUDs), and this comorbidity is associated with an unfavourable course. Early onset or frequent cannabis use may influence brain structure. A key question is whether comorbid CUDs modulate brain morphology alterations associate

  19. Cognitive deficits and levels of IQ in adolescent onset schizophrenia and other psychotic disorders

    DEFF Research Database (Denmark)

    Fagerlund, Birgitte; Pagsberg, A Katrine; Hemmingsen, Ralf

    2006-01-01

    of attention, executive functions, reaction time, and memory in the schizophrenic and psychotic adolescent groups. However, analyses of WISC-III factor profiles suggested that early onset schizophrenia patients may have more global IQ deficits than non-organic, non-affective psychoses when examined recently...

  20. [Acute and transient psychotic disorder at the onset of schizophrenia].

    Science.gov (United States)

    Le Galudec, Mickaël; Sauder, Charlotte; Stephan, Florian; Robin, Gaëlle; Walter, Michel

    2014-01-01

    Although the mode of onset of schizophrenia can be acute, it is important to remember that the disorder rarely starts as a "clap of thunder in a quiet sky", and that it is more often gradual and insidious, with negative and affective symptoms. Acute and transient psychotic disorder, on the other hand, is a short delusional episode forming suddenly and lasting a few days, sometimes a few hours. Schizophrenic evolution forms only part of the possible evolutions. It is therefore necessary to disassociate acute and transient psychotic disorder from schizophrenic disorders, which gives a wrong representation of the onset of schizophrenia.

  1. Early-Onset Psychosis in Youth with Intellectual Disability

    Science.gov (United States)

    Friedlander, R. I.; Donnelly, T.

    2004-01-01

    Accurate diagnosis of psychotic disorders may be very difficult in youth with intellectual disabilities. The authors reviewed the assessment, treatment and follow-up of 21 youths with ID referred because of early onset of psychotic symptoms. Just over one half of the patients had a diagnosis of schizophrenia or schizo-affective disorder. One third…

  2. Inflammatory Markers in Recent Onset Psychosis and Chronic Schizophrenia.

    Science.gov (United States)

    Dickerson, Faith; Stallings, Cassie; Origoni, Andrea; Schroeder, Jennifer; Katsafanas, Emily; Schweinfurth, Lucy; Savage, Christina; Khushalani, Sunil; Yolken, Robert

    2016-01-01

    Immune markers have been associated with schizophrenia, but few studies have examined multiple markers in both recent onset and chronic schizophrenia patients. The sample of 588 individuals included 79 with recent onset psychosis, 249 with chronic schizophrenia, and 260 controls. A combined inflammation score was calculated by principal components factor analysis of the levels of C-reactive protein, Pentraxin 3, and IgG antibodies to gliadin, casein, and Saccharomyces cerevisiae measured in blood samples. Inflammation scores among groups were compared by multivariate analyses. The chronic schizophrenia group showed significant elevations in the combined inflammation score compared with controls. The recent onset group surprisingly showed a reduction in the combined inflammation score. Consistent with these findings, the chronic schizophrenia group had significantly increased odds of a combined inflammation score greater than the 75th and the 90th percentile of that of the controls. The recent onset group had significantly increased odds of a combined inflammation score less than the 10th and the 25th percentile level of the controls. The recent onset of psychosis may be associated with inherent deficits in innate immunity. Individuals later in the course of disease may have increased levels of innate immunity. The reasons for these changes are not known with certainty but may be related to compensatory increases as the disease progresses. Longitudinal studies are needed to determine the course of immune abnormalities in schizophrenia and their role in the clinical manifestations of the disorder. © The Author 2015. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  3. Early onset sebaceous carcinoma

    Directory of Open Access Journals (Sweden)

    Kaltreider Sara A

    2011-09-01

    Full Text Available Abstract Background Ocular sebaceous carcinoma can masquerade as benign lesions resulting in delay of diagnosis. Early recognition is even more difficult in young patients where the disease rarely occurs. Here, we provide a clinicopathological correlation of ocular sebaceous carcinoma in a young individual lacking history of hereditary cancer or immunosuppression. Findings A detailed histopathological study including p53 DNA sequencing was performed on an aggressive sebaceous carcinoma presenting in a healthy 32 year-old Caucasian woman. She had no history of retinoblastoma, evidence for a hereditary cancer syndrome, or radiation therapy. However, she potentially was at risk for excessive UV light exposure. A detailed review of the literature is also provided. A moderately well differentiated sebaceous carcinoma was established histopathologically arising from the meibomian gland of the upper eyelid. In most areas, the cytoplasm contained small but distinct Oil-red-O positive vacuoles. Direct sequencing of p53 identified a G:C→A:T mutation at a dipyrimidine site. The mutation results in substitution of arginine for the highly conserved glycine at residue 199 located at the p53 dimer-dimer interface. Energy minimization structural modeling predicts that G199R will neutralize negative charges contributed by nearby inter- and intramonomeric glutamate residues. Discussion This study points to the importance of recognizing that sebaceous carcinoma can occur in young patients with no evidence for hereditary cancer risk or radiation therapy. The G199R substitution is anticipated to alter the stability of the p53 tetrameric complex. The role of UV light in the etiology of sebaceous carcinoma deserves further study. Our findings, taken together with those of others, suggest that different environmental factors could lead to the development of sebaceous carcinoma in different patients.

  4. Childhood Onset Schizophrenia: High Rate of Visual Hallucinations

    Science.gov (United States)

    David, Christopher N.; Greenstein, Deanna; Clasen, Liv; Gochman, Pete; Miller, Rachel; Tossell, Julia W.; Mattai, Anand A.; Gogtay, Nitin; Rapoport, Judith L.

    2011-01-01

    Objective: To document high rates and clinical correlates of nonauditory hallucinations in childhood onset schizophrenia (COS). Method: Within a sample of 117 pediatric patients (mean age 13.6 years), diagnosed with COS, the presence of auditory, visual, somatic/tactile, and olfactory hallucinations was examined using the Scale for the Assessment…

  5. Emotional Modulation of Cognition in Recent Onset Schizophrenia

    NARCIS (Netherlands)

    S. Dieleman (Sieds)

    2014-01-01

    markdownabstract__Abstract__ The current thesis describes a number of important findings on the interaction between emotion and cognition in male recent onset schizophrenia patients. In healthy controls a general effect of emotional expressions on sustained attention is that it improves reaction ti

  6. Influence of age at onset on social functioning in outpatients with schizophrenia

    Directory of Open Access Journals (Sweden)

    S. Ochoa

    2006-09-01

    Full Text Available Background and Objectives: There are different factors that have been found to predict disability in schizophrenia. The aim of our study is to evaluate the influence of age at onset on social functioning in schizophrenia in a large sample of schizophrenic outpatients controlling for gender. Methods: Two hundred and thirty-one subjects with schizophrenia (DSM-IV criteria were randomly selected from a register that included all patients under treatment in five mental health care centers (MHCC in Spain. Patients were evaluated with a sociodemographic and clinical questionnaire, and the Spanish version of the Living Skills Profile (LSP. Pearson's analyses were performed between age at onset and LSP, and an ANOVA analysis to compare three groups of age at onset (early, middle and late. Gender was introduced as a covariable. Results: Mean age at onset of the total sample was 23 (sd 7.35, with women having a later age at onset than men (women 24.6 (sd 9.1 ; men 22.2 (sd 5.9 (p<0.05. The relation between age at onset and social functioning was only significant in the not interpersonal social behavior subscale (p<0.01. Early age at onset was positively related to social contact-communication (p<0.05, not interpersonal social behavior (p<0.05 and total LSP score (p<0.05. When including gender as a covariable, a significant relationship between age at onset and social functioning was found in most of the LSP subscales. Conclusions: Early onset of illness negatively influences psychosocial functioning, especially in the areas of communication, not interpersonal social behaviour and self-care. Female gender positively influences most aspects of social functioning.

  7. Capgras syndrome in a very late onset, treatment resistant schizophrenia.

    Science.gov (United States)

    Ain, M K Nurul; Rosdinom, R; Raynuha, M

    2015-09-01

    We report a Malay man, with underlying chronic medical illnesses, presenting with positive symptoms of schizophrenia, including Capgras syndrome (CS) at the age of 73. Physical examination and blood investigations were normal and brain CT scan showed age-related cerebral atrophy. Neuropsychological assessment showed probable right hemisphere lesions but relatively intact memory and intellectual functions. Several neuroleptics including depot injections were tried but ineffective. Positive symptoms including CS eventually improved with clozapine before his death from myocardial infarction. This case report highlights the uncommon occurrence of CS in treatment resistant schizophrenia (TRS) of very late onset and its treatment challenges.

  8. 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

  9. Women have later onset than men in schizophrenia--but only in its paranoid form. Results of the DSP project.

    Science.gov (United States)

    Salokangas, Raimo K R; Honkonen, Teija; Saarinen, Soile

    2003-10-01

    According to the literature, schizophrenia begins in men earlier than in women. It has been argued that the gender-bound age difference is due to the protective antidopaminergic effect of estrogens in women. However, the effect of gender on the age of onset may vary between different types of schizophrenias, and can also be modulated by marital status and by age at onset of illness. Comprehensive data were collected on 3306 DSM IIR schizophrenia patients, aged 15-64 years, who had been discharged from psychiatric hospitals in Finland in 1982, 1986 and 1990. The age of onset of illness (AOI) was defined by the age at the first admission (AFA). Male patients were admitted earlier than female patients, and a small second peak in women appeared at the age of 40-44. However, there were no gender differences in AFA within diagnostic subgroups, except in paranoid schizophrenia in which AFA was lower in men than in women even when marital status was taken into account. Within paranoid schizophrenia, this effect of gender was significant only in those of the patients whose AFA was higher than 30 years. It is suggested that there is no gender difference in AOI in early onset schizophrenia. In later onset, paranoid schizophrenia, the illness seems to manifest in women later than in men.

  10. Cognitive deficits and levels of IQ in adolescent onset schizophrenia and other psychotic disorders

    DEFF Research Database (Denmark)

    Fagerlund, Birgitte; Pagsberg, A Katrine; Hemmingsen, Ralf

    2006-01-01

    of intelligence, executive functions, memory, attention and processing speed was global or specific. First-episode psychotic adolescents (N = 39) between the ages 11 and 17 years were included, 18 of whom were diagnosed with schizophrenia, and 21 with other non-organic, non-affective psychoses, using ICD-10...... of attention, executive functions, reaction time, and memory in the schizophrenic and psychotic adolescent groups. However, analyses of WISC-III factor profiles suggested that early onset schizophrenia patients may have more global IQ deficits than non-organic, non-affective psychoses when examined recently...

  11. 早发性精神分裂症谱系障碍的临床特征及疗效分析%Clinical features and therapeutic effects of early onset schizophrenia spectrum disorder

    Institute of Scientific and Technical Information of China (English)

    江文庆; 刘文文; 姜凌霄; 杜亚松; 钱昀; 刘乐

    2016-01-01

    Objective To explore the features of early onset schizophrenia spectrum disorder (EOS),and also the difference between childhood onset schizophrenia spectrum disorder (COS) and adolescent onset schizophrenia spectrum disorder (AOS).Methods A retrospective analysis on demographic feature,pre-morbid situation,clinical characteristics and curative effect,was conducted based on the history review of EOS patients in children and adolescent department from 2006 to 2012,the differences between COS subgroup (≤13 ys,n=113) and AOS subgroup (>13 ys,n=192),were compared by t-test and Chi-square.Correlation analysis and logistic regression were used to explore the risk factor for curative effect of EOS.Result 30.8% (94/305) of EOS children had a history of psychosis in their family members; the most common symptoms in EOS included hallucination,delusion,and formal thought disorder in order; the rate of significantly improved in first episode psychosis in in-patient clinic was 71.3% (216/303).Abnormal development history was more common in COS (21.2%,24/113) than it in AOS (11.5%,22/192;x2=5.31,P=0.030),while the symptom of delusion (61.9% (70/113) vs.(142/192) ; x2=4.84,P=0.029)and the rate of significantly improved(64.3%(72/112) vs.75.4%(144/191),x2=6.63,P=0.034)were significantly higher in AOS than it in COS.When significantly improved was designated as 1 and without significant improvement was designated as 0,social withdrawal and comorbidity with mental retardation or Asperger syndrome,fit the logistic regression equation very well (x2=31.63,P<0.01),were risk factors for curative effect of EOS.Conclusion The curative effect of COS is probably not as good as AOS.Much more abnormal development history is in COS,which may suggest a more significant biological basis in COS.Social withdrawal and comorbidity with neurodevelopmental disorder may be the risk factors in prognosis of EOS.%目的 探索早发性精神分裂症谱系障碍(early onset schizophrenia

  12. Neuropsychological Decline in Schizophrenia from the Premorbid to Post-Onset Period: Evidence from a Population-Representative Longitudinal Study

    Science.gov (United States)

    Meier, Madeline H.; Caspi, Avshalom; Reichenberg, Abraham; Keefe, Richard S.E.; Fisher, Helen; Harrington, HonaLee; Houts, Renate; Poulton, Richie; Moffitt, Terrie

    2013-01-01

    Objective Despite widespread belief that neuropsychological decline is a cardinal feature of the progression from the premorbid to the chronic form of schizophrenia, few longitudinal studies have examined change in neuropsychological functioning from before to after the onset of schizophrenia. We addressed the following unresolved questions: Is neuropsychological decline generalized versus confined to particular mental functions? Is neuropsychological decline unique to schizophrenia? Do individuals with schizophrenia also have cognitive problems in everyday life? Method Participants were members of a representative cohort of 1,037 individuals born in Dunedin, New Zealand between 1972-73 and followed prospectively to age 38, with 95% retention. Assessment of IQ and other specific neuropsychological functions was conducted at ages 7-13, before the onset of schizophrenia, and again at age 38. Informants also reported on cognitive problems at age 38. Results Individuals with schizophrenia showed decline in IQ as well as a range of different mental functions, particularly those tapping processing speed, learning, executive functioning, and motor functioning. There was little evidence of decline in verbal abilities or delayed memory, however, and the developmental progression of deficits in schizophrenia differed across mental functions. Processing speed deficits increased gradually from childhood to beyond the early teen years, whereas verbal deficits emerged early but remained static through midlife. Neuropsychological decline was specific to schizophrenia, as no evidence of decline was apparent among individuals with persistent depression, children with mild cognitive impairment, individuals matched on childhood risk factors for schizophrenia, and psychiatrically healthy individuals. Informants also reported cognitive problems for individuals diagnosed with schizophrenia. Conclusion There is substantial neuropsychological decline in schizophrenia from the premorbid to

  13. Early onset of treatment effects with oral risperidone

    Directory of Open Access Journals (Sweden)

    Naber Dieter

    2007-01-01

    Full Text Available Abstract Background The dogma of a delayed onset of antipsychotic treatment effects has been maintained over the past decades. However, recent studies have challenged this concept. We therefore performed an analysis of the onset of antipsychotic treatment effects in a sample of acutely decompensated patients with schizophrenia. Methods In this observational study, 48 inpatients with acutely decompensated schizophrenia were offered antipsychotic treatment with oral risperidone. PANSS-ratings were obtained on day 0, day 1, day 3, day 7 and day 14. Results Significant effects of treatment were already present on day 1 and continued throughout the study. The PANSS positive subscore and the PANSS total score improved significantly more than the PANSS negative subscore. Conclusion Our results are consistent with the growing number of studies suggesting an early onset of antipsychotic treatment effects. However, non-pharmacological effects of treatment also need to be taken into consideration.

  14. Genetics Home Reference: early-onset glaucoma

    Science.gov (United States)

    ... Home Health Conditions early-onset glaucoma early-onset glaucoma Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Glaucoma is a group of eye disorders in which ...

  15. Cannabis use and age at onset of schizophrenia

    NARCIS (Netherlands)

    Veen, ND; Selten, JP; Van der Tweel, [No Value; Feller, WG; Hoek, HW; Kahn, RS

    Objective: The purpose of the study was to assess the independent influences of gender and cannabis use on milestones of early course in schizophrenia. Method: in this population-based, first-contact incidence study conducted in The Hague, the Netherlands, patients (N=133) were interviewed with the

  16. Effects on cognitive functioning after olanzapine-ziprasidone crossover in recent-onset schizophrenia.

    NARCIS (Netherlands)

    Grootens, K.P.; Veelen, N.M. van; Sitskoorn, M.M.; Sabbe, B.G.C.; Peuskens, J.; Buitelaar, J.K.; Verkes, R.J.; Kahn, R.S.

    2010-01-01

    INTRODUCTION: To enhance functional outcome in schizophrenia improvement of cognitive symptoms is crucial. EXPERIMENTAL PROCEDURES: Using a comprehensive test battery, this follow-up examines cognitive effects in patients with recent-onset schizophrenia after a change of medication following

  17. 早发性精神分裂症患者失言识别和信念理解的研究%Study of faux pas recognition and belief understanding in early-onset schizophrenia

    Institute of Scientific and Technical Information of China (English)

    钟慧; 汪凯; 朱春燕; 方萍; 孙娜娜

    2015-01-01

    Objective To explore the cognitive function of the theory of mind(TOM) in early-onset schizophrenia from faux pas recognition and belief understanding dimensions.Methods 41 early-onset schizophrenias (EOS) and 40 normal adolescents were interviewed by the Chinese version of faux pas recognition task and theory of mind picture-sequencing task(ToM-PST),then early-onset schizophrenias cognitive features were analyzed.Results ①In faux pas recognition task,compared with healthy subjects,EOS showed significantly less total scores (16.11±6.34 vs 20.86±7.79,P<0.05)and subscores of understanding faux pas questions (9.88±4.11 vs 13.27± 6.07,P<0.05).In faux pas recognition scores(6.72±2.60vs 7.58±2.20) and control questions(9.83±0.44vs 9.97± 0.16) had no statistically significant difference (P>0.05).②In ToM-PST task,early-onset schizophrenic patients also had significantly less total score(17.29±3.38 vs 21.48± 1.73,P<0.01),subscores of understanding first order belief,first order error belief,second order belief,second order error belief,third order error belief,sense of reality,reciprocity,fraud,detecting fraud compared to normal controls had significant difference (all P< 0.05 or 0.01).③ The correlation between clinical course time and PANSS score and its subscores of the theory of mind picture-sequencing and faux pas task was non-significant(P>0.05)except the subscores of understanding the first order belief (P<0.01).Conclusion The theory of mind is apparent damage in early onset schizophrenia and non-significant correlation is found with psychiatric symptoms.%目的 从失言识别和信念理解两个维度出发,探究早发性精神分裂症患者心理理论能力损伤的认知特点.方法 在41名早发性分裂症患者(患者组)和40名正常青少年(对照组)被试中进行失言识别任务(faux pas recognition task)和心理理论图片(ToM-PST)任务,测定早发性分裂症患者在完成有关社会认知

  18. Development of a blood-based molecular biomarker test for identification of schizophrenia before disease onset

    Science.gov (United States)

    Chan, M K; Krebs, M-O; Cox, D; Guest, P C; Yolken, R H; Rahmoune, H; Rothermundt, M; Steiner, J; Leweke, F M; van Beveren, N J M; Niebuhr, D W; Weber, N S; Cowan, D N; Suarez-Pinilla, P; Crespo-Facorro, B; Mam-Lam-Fook, C; Bourgin, J; Wenstrup, R J; Kaldate, R R; Cooper, J D; Bahn, S

    2015-01-01

    Recent research efforts have progressively shifted towards preventative psychiatry and prognostic identification of individuals before disease onset. We describe the development of a serum biomarker test for the identification of individuals at risk of developing schizophrenia based on multiplex immunoassay profiling analysis of 957 serum samples. First, we conducted a meta-analysis of five independent cohorts of 127 first-onset drug-naive schizophrenia patients and 204 controls. Using least absolute shrinkage and selection operator regression, we identified an optimal panel of 26 biomarkers that best discriminated patients and controls. Next, we successfully validated this biomarker panel using two independent validation cohorts of 93 patients and 88 controls, which yielded an area under the curve (AUC) of 0.97 (0.95–1.00) for schizophrenia detection. Finally, we tested its predictive performance for identifying patients before onset of psychosis using two cohorts of 445 pre-onset or at-risk individuals. The predictive performance achieved by the panel was excellent for identifying USA military personnel (AUC: 0.90 (0.86–0.95)) and help-seeking prodromal individuals (AUC: 0.82 (0.71–0.93)) who developed schizophrenia up to 2 years after baseline sampling. The performance increased further using the latter cohort following the incorporation of CAARMS (Comprehensive Assessment of At-Risk Mental State) positive subscale symptom scores into the model (AUC: 0.90 (0.82–0.98)). The current findings may represent the first successful step towards a test that could address the clinical need for early intervention in psychiatry. Further developments of a combined molecular/symptom-based test will aid clinicians in the identification of vulnerable patients early in the disease process, allowing more effective therapeutic intervention before overt disease onset. PMID:26171982

  19. Delayed early proprioceptive information processing in schizophrenia.

    Science.gov (United States)

    Arnfred, Sidse M; Hemmingsen, Ralf P; Parnas, Josef

    2006-12-01

    It was first suggested that disordered proprioception was a core feature of schizophrenia by Sandor Rado in 1953. Using a recently designed proprioceptive event-related potential paradigm based on a change of load, we studied 12 unmedicated male out-patients with schizophrenia and 24 controls. In the patients, the early contralateral parietal activity was delayed and later central activity had increased amplitude, but gating was unaffected. The results could be understood within the "deficiency of corollary discharge" model of schizophrenia but not within the "filtering" theory. Further studies, including psychiatric controls, are necessary to verify the specificity of the abnormality.

  20. Delayed early proprioceptive information processing in schizophrenia

    DEFF Research Database (Denmark)

    Arnfred, Sidse M; Hemmingsen, RP; Parnas, Josef;

    2006-01-01

    It was first suggested that disordered proprioception was a core feature of schizophrenia by Sandor Rado in 1953. Using a recently designed proprioceptive event-related potential paradigm based on a change of load, we studied 12 unmedicated male out-patients with schizophrenia and 24 controls....... In the patients, the early contralateral parietal activity was delayed and later central activity had increased amplitude, but gating was unaffected. The results could be understood within the "deficiency of corollary discharge" model of schizophrenia but not within the "filtering" theory. Further studies...

  1. Delayed early proprioceptive information processing in schizophrenia

    DEFF Research Database (Denmark)

    Arnfred, Sidse M; Hemmingsen, RP; Parnas, Josef

    2006-01-01

    It was first suggested that disordered proprioception was a core feature of schizophrenia by Sandor Rado in 1953. Using a recently designed proprioceptive event-related potential paradigm based on a change of load, we studied 12 unmedicated male out-patients with schizophrenia and 24 controls....... In the patients, the early contralateral parietal activity was delayed and later central activity had increased amplitude, but gating was unaffected. The results could be understood within the "deficiency of corollary discharge" model of schizophrenia but not within the "filtering" theory. Further studies...

  2. 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

    , delusional disorder or other non-organic psychosis), aged 10-18 to those of 29 matched controls, using optimized voxel-based morphometry. RESULTS: Psychotic patients had frontal white matter abnormalities, but expected (regional) gray matter reductions were not observed. Post hoc analyses revealed...... 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....

  3. Blood Test Might Someday Distinguish Early Depression, Schizophrenia

    Science.gov (United States)

    ... html Blood Test Might Someday Distinguish Early Depression, Schizophrenia A screen is still in development stages but ... doctors to tell the difference between depression and schizophrenia, especially early on. Now, researchers say they're ...

  4. Early-Onset Neonatal Sepsis

    Science.gov (United States)

    Simonsen, Kari A.; Anderson-Berry, Ann L.; Delair, Shirley F.

    2014-01-01

    SUMMARY Early-onset sepsis remains a common and serious problem for neonates, especially preterm infants. Group B streptococcus (GBS) is the most common etiologic agent, while Escherichia coli is the most common cause of mortality. Current efforts toward maternal intrapartum antimicrobial prophylaxis have significantly reduced the rates of GBS disease but have been associated with increased rates of Gram-negative infections, especially among very-low-birth-weight infants. The diagnosis of neonatal sepsis is based on a combination of clinical presentation; the use of nonspecific markers, including C-reactive protein and procalcitonin (where available); blood cultures; and the use of molecular methods, including PCR. Cytokines, including interleukin 6 (IL-6), interleukin 8 (IL-8), gamma interferon (IFN-γ), and tumor necrosis factor alpha (TNF-α), and cell surface antigens, including soluble intercellular adhesion molecule (sICAM) and CD64, are also being increasingly examined for use as nonspecific screening measures for neonatal sepsis. Viruses, in particular enteroviruses, parechoviruses, and herpes simplex virus (HSV), should be considered in the differential diagnosis. Empirical treatment should be based on local patterns of antimicrobial resistance but typically consists of the use of ampicillin and gentamicin, or ampicillin and cefotaxime if meningitis is suspected, until the etiologic agent has been identified. Current research is focused primarily on development of vaccines against GBS. PMID:24396135

  5. 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

  6. Association between the CCR5 32-bp deletion allele and late onset of schizophrenia

    DEFF Research Database (Denmark)

    Rasmussen, H.B.; Timm, S.; Wang, A.G.;

    2006-01-01

    OBJECTIVE: The 32-bp deletion allele in chemokine receptor CCR5 has been associated with several immune-mediated diseases and might be implicated in schizophrenia as well. METHOD: The authors genotyped DNA samples from 268 schizophrenia patients and 323 healthy subjects. Age at first admission...... of the deletion allele in the latter subgroup of patients. CONCLUSIONS: These findings suggest that the CCR5 32-bp deletion allele is a susceptibility factor for schizophrenia with late onset. Alternatively, the CCR5 32-bp deletion allele may act as a modifier by delaying the onset of schizophrenia without...

  7. Association between the CCR5 32-bp deletion allele and late onset of schizophrenia

    DEFF Research Database (Denmark)

    Rasmussen, Henrik Berg; Timm, Sally; Wang, August G;

    2006-01-01

    OBJECTIVE: The 32-bp deletion allele in chemokine receptor CCR5 has been associated with several immune-mediated diseases and might be implicated in schizophrenia as well. METHOD: The authors genotyped DNA samples from 268 schizophrenia patients and 323 healthy subjects. Age at first admission......-onset schizophrenia) and healthy subjects differed significantly. This was reflected in an increased frequency of the deletion allele in the patient subgroup. Patients with ages at first admission below and above 40 years significantly differed in distribution of genotypes and alleles, with an overrepresentation...... of the deletion allele in the latter subgroup of patients. CONCLUSIONS: These findings suggest that the CCR5 32-bp deletion allele is a susceptibility factor for schizophrenia with late onset. Alternatively, the CCR5 32-bp deletion allele may act as a modifier by delaying the onset of schizophrenia without...

  8. 烟碱型乙酰胆碱受体基因多态与早发性精神分裂症的关联研究%Association study of neuronal nicotinic acetylcholine receptor subunit genes with early onset schizophrenia

    Institute of Scientific and Technical Information of China (English)

    李园园; 严小蕾; 易正辉; 余一旻; 汪栋祥; 杜亚松; 禹顺英; 李华芳

    2013-01-01

    目的 探讨烟碱型乙酰胆碱受体基因多态在早发性精神分裂症发生中的作用.方法 采用TaqMan荧光探针基因分型技术对421例早发性精神分裂症患者和598例健康对照者的α3、α4、α7、α5烟碱型乙酰胆碱受体基因(nicotinic acetylcholine receptor subunit gene)即CHRNA3(rs 1317286)、CHRNA 4(rs 1044396)、HRNA7(rs6494212)及CHRNA5(rs 16969968,rs684513)基因多态位点进行基因分型,分析这些位点与早发性精神分裂症的关联及其与发病年龄的关系,并进一步分析基因与基因的交互作用.结果 单位点分析显示所有位点的差异比较结果无统计学意义.Kaplan-Meier生存分析显示携带rs1317286G等位基因的患者发病年龄晚于不携带rs 1317286G等位基因的患者[发病年龄分别为(15.5±0.33)岁和(15.1±0.14)岁,P=0.010].CHRNA5基因的两个单核苷酸多态位点(single nucleotide polymorphisms,SNPs)组成的单体型也显示不与早发性精神分裂症关联.进一步的基因交互作用分析显示rs 1044396、rs6494212及rs684513联合作用模式可能与精神分裂症相关(P=0.0007).结论 CHRNA3 (rs1317286)位点可能与精神分裂症的发病年龄相关;rs1044396、rs6494212及rs684513基因的联合作用模式可能与早发性精神分裂症有关.%Objective To investigate the relationship between neuronal nicotinic acetylcholine receptor subunit genes polymorphisms and early onset schizophrenia. Method Five single nucleotide polymorphisms (SNPs of CHR-NA7,CHRNA4,CHRNA3 and CHRNA5) were analyzed in a sample of 421 early onset schizophrenic patients with onset before age 18 and 598 healthy controls. The five markers were genotyped by using the TaqMan fluorogenic detection method with the ABI7900. The association of the locus with early onset schizophrenia and age of onset was analyzed. Results There were no significant differences in the frequencies of the genotypes and alleles of the polymorphisms between cases and normal

  9. Cerebellar motor learning deficits in medicated and medication-free men with recent-onset schizophrenia

    NARCIS (Netherlands)

    M.P.H. Coesmans (Michiel); C. Röder (Constantin); A.E. Smit (Albertine Eline); S.K.E. Koekkoek (Bas); C.I. de Zeeuw (Chris); M.A. Frens (Maarten); J.N. van der Geest (Jos)

    2014-01-01

    textabstractBackground: The notion that cerebellar deficits may underlie clinical symptoms in people with schizophrenia is tested by evaluating 2 forms of cerebellar learning in patients with recent-onset schizophrenia. A potential medication effect is evaluated by including patients with or without

  10. Cerebellar motor learning deficits in medicated and medication-free men with recent-onset schizophrenia

    NARCIS (Netherlands)

    Coesmans, Michael; Röder, Christian H; Smit, Albertine E; Koekkoek, Sebastiaan K E; De Zeeuw, Chris I; Frens, Maarten A; van der Geest, Josef N

    2014-01-01

    BACKGROUND: The notion that cerebellar deficits may underlie clinical symptoms in people with schizophrenia is tested by evaluating 2 forms of cerebellar learning in patients with recent-onset schizophrenia. A potential medication effect is evaluated by including patients with or without antipsychot

  11. Antipsychotic medication for early episode schizophrenia

    Science.gov (United States)

    Bola, John; Kao, Dennis; Soydan, Haluk; Adams, Clive E

    2014-01-01

    Background Long-term treatment with antipsychotic medications in early episode schizophrenia spectrum disorders is common, but both short and long-term effects on the illness are unclear. There have been numerous suggestions that people with early episodes of schizophrenia appear to respond differently than those with multiple prior episodes. The number of episodes may moderate response to drug treatment. Objectives To assess the effects of antipsychotic medication treatment on people with early episode schizophrenia spectrum disorders. Search methods We searched the Cochrane Schizophrenia Group register (July 2007) as well as references of included studies. We contacted authors of studies for further data. Selection criteria Studies with a majority of first and second episode schizophrenia spectrum disorders comparing initial antipsychotic medication treatment with placebo, milieu, or psychosocial treatment. Data collection and analysis Working independently, we critically appraised records from 681 studies, of which five studies met inclusion criteria. We calculated risk ratios (RR) and their 95% confidence intervals (CI) where possible. For continuous data, we calculated mean difference (MD). We calculated numbers needed to treat/harm (NNT/NNH) where appropriate. Main results Five studies (combined total n=998) met inclusion criteria. Four studies (n=724) provided leaving the study early data and results suggested that individuals treated with a typical antipsychotic medication are less likely to leave the study early than those treated with placebo (Chlorpromazine: 3 RCTs n=353, RR 0.4 CI 0.3 to 0.5, NNT 3.2, Fluphenaxine: 1 RCT n=240, RR 0.5 CI 0.3 to 0.8, NNT 5; Thioridazine: 1 RCT n=236, RR 0.44 CI 0.3 to 0.7, NNT 4.3, Trifulperazine: 1 RCT n=94, RR 0.96 CI 0.3 to 3.6). Two studies contributed data to assessment of adverse effects and present a general pattern of more frequent side effects among individuals treated with typical antipsychotic medications

  12. Early onset (childhood) monogenic neuropathies.

    Science.gov (United States)

    Landrieu, Pierre; Baets, Jonathan

    2013-01-01

    Hereditary neuropathies (HN) with onset in childhood are categorized according to clinical presentation, pathogenic mechanism based on electrophysiology, genetic transmission and, in selected cases, pathological findings. Especially relevant to pediatrics are the items "secondary" versus "primary" neuropathy, "syndromic versus nonsyndromic," and "period of life." Different combinations of these parameters frequently point toward specific monogenic disorders. Ruling out a neuropathy secondary to a generalized metabolic disorder remains the first concern in pediatrics. As a rule, metabolic diseases include additional, orienting symptoms or signs, and their biochemical diagnosis is based on logical algorithms. Primary, motor sensory are the most frequent HN and are dominated by demyelinating autosomal dominant (AD) forms (CMT1). Other forms include demyelinating autosomal recessive (AR) forms, axonal AD/AR forms, and forms with "intermediate" electrophysiological phenotype. Peripheral motor neuron disorders are dominated by AR SMN-linked spinal muscular atrophies. (Distal) hereditary motor neuropathies represent 40 genes with various biological functions have been found to be responsible for primary HN. Many are responsible for various phenotypes, including some without the polyneuropathic trait, and some for various types of transmission.

  13. Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age of onset in schizophrenia

    DEFF Research Database (Denmark)

    Vares, Maria; Saetre, Peter; Deng, Hong;

    2010-01-01

    Different lines of evidence indicate that methylenetetrahydrofolate reductase (MTHFR) functional gene polymorphisms, causative in aberrant folate-homocysteine metabolism, are associated with increased vulnerability to several heritable developmental disorders. Opposing views are expressed conside...... 677T allele showed earlier age at onset than siblings being homozygous for the wild-type allele (P = 0.008). The MTHFR C677T polymorphism may play a role as a modifying factor for age of onset in schizophrenia....... considering the possible association between MTHFR and susceptibility for schizophrenia. In order to evaluate if age of onset could explain some of this discrepancy we investigated the relationship between two functional MTHFR gene polymorphisms and age at onset in this disorder. Scandinavian patients (n...... = 820) diagnosed with schizophrenia, schizoaffective disorder, and schizophreniform disorder were investigated. Two functional MTHFR single nucleotide polymorphisms (SNPs; rs1801131 and rs1801133) were genotyped and the effect of MTHFR polymorphisms on the age of onset was examined with survival...

  14. Early and sustained dynamic intervention in schizophrenia

    DEFF Research Database (Denmark)

    Rosenbaum, Bent

    2009-01-01

    This paper is based on the Danish National Schizophrenia Project manual for psychodynamic individual psychotherapy with persons in states of schizophrenia. The methods for engaging with and treating a patient with schizophrenia in a supportive, psychodynamic way are described....

  15. Early detection of the first episode of schizophrenia and suicidal behavior

    DEFF Research Database (Denmark)

    Melle, Ingrid; Johannesen, Jan Olav; Friis, Svein;

    2006-01-01

    The suicide rate in schizophrenia is high, with the risk being highest early in the course. The rate of suicide attempts before treatment onset is also high and is often the event leading up to first treatment contact. A previous report showed that the duration of untreated psychosis can be reduced...

  16. Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age at onset of schizophrenia

    DEFF Research Database (Denmark)

    Saetre, Peter; Grove, Jakob; Børglum, Anders;

    2012-01-01

    Methylenetetrahydrofolate reductase (MTHFR) is an enzyme involved in metabolic pathways of importance for nucleotide synthesis and methylation of DNA, membranes, proteins and lipids. The MTHFR gene includes a common polymorphism (rs1801133 or C677T), which is associated with enzyme activity. The T......-allele of the C677T polymorphism has been associated with earlier age at onset of schizophrenia in a Scandinavian population, although no association was found in replication attempts in other populations. Extending the study to five Nordic samples consisting of 2,198 patients with schizophrenia, including...... the original Scandinavian samples, there was no significant association between MTHFR C677T polymorphism and age at onset in schizophrenia. The present results do not suggest that the investigated MTHFR polymorphism has any significant influence on age at onset of schizophrenia in the Nordic population. © 2012...

  17. Inflexible Minds : Impaired Attention Switching in Recent-Onset Schizophrenia

    NARCIS (Netherlands)

    Smid, Henderikus G. O. M.; Martens, Sander; de Witte, Marc R.; Bruggeman, Richard

    2013-01-01

    Impairment of sustained attention is assumed to be a core cognitive abnormality in schizophrenia. However, this seems inconsistent with a recent hypothesis that in schizophrenia the implementation of selection (i.e., sustained attention) is intact but the control of selection (i.e., switching the fo

  18. Psychomotor planning is deficient in recent-onset schizophrenia.

    NARCIS (Netherlands)

    Grootens, K.P.; Vermeeren, L.C.A.; Verkes, R.J.; Buitelaar, J.K.; Sabbe, B.G.C.; Veelen, N. van; Kahn, R.S.; Hulstijn, W.

    2009-01-01

    BACKGROUND: Psychomotor slowing is regarded as an important clinical phenomenon in schizophrenia and simple graphic tasks consistently revealed deficits in the (implicit) planning and execution of motor actions in patients with chronic schizophrenia. The aim of the present study is to test the

  19. Inflexible Minds : Impaired Attention Switching in Recent-Onset Schizophrenia

    NARCIS (Netherlands)

    Smid, Henderikus G. O. M.; Martens, Sander; de Witte, Marc R.; Bruggeman, Richard

    2013-01-01

    Impairment of sustained attention is assumed to be a core cognitive abnormality in schizophrenia. However, this seems inconsistent with a recent hypothesis that in schizophrenia the implementation of selection (i.e., sustained attention) is intact but the control of selection (i.e., switching the

  20. Predictive value of cognition for different domains of outcome in recent-onset schizophrenia

    NARCIS (Netherlands)

    Holthausen, Esther A. E.; Wiersma, Durk; Cahn, Wiepke; Kahn, Rene S.; Dingemans, Peter M.; Schene, Aart H.; van den Bosch, Robert J.

    2007-01-01

    The aim of this study was to see whether and how cognition predicts outcome in recent-onset schizophrenia in a large range of domains such as course of illness, self-care, interpersonal functioning, vocational functioning and need for care. At inclusion, 115 recent-onset patients were tested on a co

  1. Early-onset Lafora body disease

    Science.gov (United States)

    Turnbull, Julie; Girard, Jean-Marie; Lohi, Hannes; Chan, Elayne M.; Wang, Peixiang; Tiberia, Erica; Omer, Salah; Ahmed, Mushtaq; Bennett, Christopher; Chakrabarty, Aruna; Tyagi, Atul; Liu, Yan; Pencea, Nela; Zhao, XiaoChu; Scherer, Stephen W.; Ackerley, Cameron A.

    2012-01-01

    The most common progressive myoclonus epilepsies are the late infantile and late infantile-variant neuronal ceroid lipofuscinoses (onset before the age of 6 years), Unverricht–Lundborg disease (onset after the age of 6 years) and Lafora disease. Lafora disease is a distinct disorder with uniform course: onset in teenage years, followed by progressively worsening myoclonus, seizures, visual hallucinations and cognitive decline, leading to a vegetative state in status myoclonicus and death within 10 years. Biopsy reveals Lafora bodies, which are pathognomonic and not seen with any other progressive myoclonus epilepsies. Lafora bodies are aggregates of polyglucosans, poorly constructed glycogen molecules with inordinately long strands that render them insoluble. Lafora disease is caused by mutations in the EPM2A or EPM2B genes, encoding the laforin phosphatase and the malin ubiquitin ligase, respectively, two cytoplasmically active enzymes that regulate glycogen construction, ensuring symmetric expansion into a spherical shape, essential to its solubility. In this work, we report a new progressive myoclonus epilepsy associated with Lafora bodies, early-onset Lafora body disease, map its locus to chromosome 4q21.21, identify its gene and mutation and characterize the relationship of its gene product with laforin and malin. Early-onset Lafora body disease presents early, at 5 years, with dysarthria, myoclonus and ataxia. The combination of early-onset and early dysarthria strongly suggests late infantile-variant neuronal ceroid lipofuscinosis, not Lafora disease. Pathology reveals no ceroid lipofuscinosis, but Lafora bodies. The subsequent course is a typical progressive myoclonus epilepsy, though much more protracted than any infantile neuronal ceroid lipofuscinosis, or Lafora disease, patients living into the fourth decade. The mutation, c.781T>C (Phe261Leu), is in a gene of unknown function, PRDM8. We show that the PRDM8 protein interacts with laforin and malin and

  2. In vivo markers of inflammatory response in recent-onset schizophrenia: a combined study using [(11)C]DPA-713 PET and analysis of CSF and plasma.

    Science.gov (United States)

    Coughlin, J M; Wang, Y; Ambinder, E B; Ward, R E; Minn, I; Vranesic, M; Kim, P K; Ford, C N; Higgs, C; Hayes, L N; Schretlen, D J; Dannals, R F; Kassiou, M; Sawa, A; Pomper, M G

    2016-04-12

    Several lines of evidence suggest aberrant immune response in schizophrenia, including elevated levels of cytokines. These cytokines are thought to be produced by activated microglia, the innate immune cells of the central nervous system. However, increase in translocator protein 18 kDa (TSPO), a marker of activated glia, has not been found in patients with chronic schizophrenia using second-generation radiotracers and positron emission tomography (PET)-based neuroimaging. In this study we focused on patients with recent onset of schizophrenia (within 5 years of diagnosis). Quantified levels of TSPO in the cortical and subcortical brain regions using the PET-based radiotracer [(11)C]DPA-713 were compared between the patients and healthy controls. Markers of inflammation, including interleukin 6 (IL-6), were assessed in the plasma and cerebrospinal fluid (CSF) in these participants. We observed no significant change in the binding of [(11)C]DPA-713 to TSPO in 12 patients with recent onset of schizophrenia compared with 14 controls. Nevertheless, the patients with recent onset of schizophrenia showed a significant increase in IL-6 in both plasma (Pschizophrenia alone (P=0.03). Our results suggest that increased levels of IL-6 may occur in the absence of changed TSPO PET signal in the brains of medicated patients with recent onset of schizophrenia. Future development of PET-based radiotracers targeting alternative markers of glial activation and immune response may be needed to capture the inflammatory signature present in the brains of patients with early-stage disease.

  3. Early Onset Charcot-Marie-Tooth Disease

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2005-06-01

    Full Text Available The clinical signs and genetic analysis of early-onset Charcot-Marie-Tooth disease (CMT in a 2-year-old boy and members of his family are reported from the Academic Medical Center, Amsterdam, and Sophia Children’s Hospital, Rotterdam, the Netherlands.

  4. Factors in the onset of schizophrenia: a comparison between London and Trinidad samples.

    Science.gov (United States)

    Bhugra, D; Hilwig, M; Mallett, R; Corridan, B; Leff, J; Neehall, J; Rudge, S

    2000-02-01

    Sociodemographic factors play an important role in the genesis of mental disorders. High rates of unemployment and other social factors have been reported previously among African-Caribbeans with schizophrenia in London. The aim of the present study was to compare these factors in Trinidad with London African-Caribbeans. Using internationally defined criteria, patients with first-onset schizophrenia were recruited in both countries, and information on the onset of symptoms, help-seeking, pathways into care, premorbid personality and educational and employment status were collected. These two samples are compared on a number of these factors. A total of 56 cases of first onset of psychosis coming into contact with psychiatric services in Trinidad were studied. Of these, 46 cases were diagnosed as having schizophrenia using the CATEGO program. Over a period of 2 years, 38 African-Caribbean patients with schizophrenia were recruited in London. African-Caribbean patients with schizophrenia in London were more likely to be admitted for perceived threat to others and to have shown loss of interest and serious neglect and to have assaulted others. A lower proportion were admitted via a psychiatrist and a higher proportion by the police. The unemployment rate among the London sample of African-Caribbeans was much higher than that in the general population, whereas this was not the case for the Trinidad patients. These findings are discussed in the context of culture and aetiology of schizophrenia, and suggestions with regard to future research are made.

  5. Predicting severity of paranoid schizophrenia

    OpenAIRE

    Kolesnichenko Elena Vladimirovna

    2015-01-01

    Clinical symptoms, course and outcomes of paranoid schizophrenia are polymorphic. 206 cases of paranoid schizophrenia were investigated. Clinical predictors were collected from hospital records and interviews. Quantitative assessment of the severity of schizophrenia as special indexes was used. Schizoid, epileptoid, psychasthenic and conformal accentuation of personality in the premorbid, early onset of psychosis, paranoid and hallucinatory-paranoid variants of onset predicted more expressed ...

  6. The Experience of Delusion Content Psycholinguistic Analysis in Paranoid Schizophrenia Onset

    Directory of Open Access Journals (Sweden)

    Gorkovaia I.A.

    2017-06-01

    Full Text Available The article presents the experience of delusion content psycholinguistic analysis in paranoid schizophrenia onset. The 100 medical histories of men and women who have the diagnosis of paranoid schizophrenia (F20.0 have been studied. The patients have been divided into four groups according to their sex and age (adolescence and the first period of maturity, when the disease onset had been. To implement the delusion content psycholinguistic analysis at a lexical level of language the inductive content analysis has been used and to do this at a syntactical level of language the deductive content analysis has been used. The statistical manipulation variants of content analysis’s data and the ways of data graphic representation have been demonstrated. The conclusion that psycholinguistic analysis exposes the features of delusion content in the patients’ groups sorted out according their sex and age when paranoid schizophrenia onset had been have been done.

  7. Pretreatment Cardiometabolic Status in Youth With Early-Onset Psychosis

    DEFF Research Database (Denmark)

    Jensen, Karsten G; Correll, Christoph U; Rudå, Ditte

    2017-01-01

    : Comparing 113 youths with FEP (age ± SD = 15.74 ± 1.36 years, males = 30.1%, schizophrenia-spectrum disorders = 92.9%, antipsychotic-naive: n = 57) to 60 controls, patients had higher waist circumference (WC) z scores (1.13 ± 1.65 vs 0.42 ± 1.27, P = .018), cholesterol (4.10 ± 0.71 vs 3.79 ± 0.49 mmol/L, P...... percentile. Hypercholesterolemia (34.0% vs 12.5%, P = .015) was more frequent in patients, while decreased high-density lipoprotein cholesterol was more frequent in controls (32.5% vs 19.0%, P = .032). Family history of type 2 diabetes mellitus was associated with increased body mass index (BMI) z score (P...... exposure was not associated with increased cardiometabolic risk. Early age at onset predicted increased BMI and WC z scores, while diagnosis of schizophrenia and higher Clinical Global Impression-Severity score were associated with increased blood lipids. CONCLUSIONS: Youths with FEP had significantly...

  8. Risk assessment in neonatal early onset sepsis.

    Science.gov (United States)

    Mukhopadhyay, Sagori; Puopolo, Karen M

    2012-12-01

    The incidence of neonatal early onset sepsis has declined with the widespread use of intrapartum antibiotic therapies, yet early onset sepsis remains a potentially fatal condition, particularly among very low birth-weight infants. Clinical signs of neonatal infection are nonspecific and may be absent in the immediate postnatal period. Maternal and infant clinical characteristics, as well as infant laboratory values, have been used to identify newborns at risk and to administer empiric antibiotic therapy to prevent progression to more severe illness. Such approaches result in the evaluation of approximately 15% of asymptomatic term and late preterm infants and of nearly all preterm infants. The development of multivariate predictive models may provide more accurate methods of identifying newborns at highest risk and allow for more limited newborn antibiotic exposures. Copyright © 2012 Elsevier Inc. All rights reserved.

  9. Unusual early-onset Huntingtons disease.

    Science.gov (United States)

    Vargas, Antonio P; Carod-Artal, Francisco J; Bomfim, Denise; Vázquez-Cabrera, Carolina; Dantas-Barbosa, Carmela

    2003-06-01

    Huntington's disease is an autosomal dominant progressive neurodegenerative disorder characterized by involuntary movements, cognitive decline, and behavioral disorders leading to functional disability. In contrast to patients with adult onset, in which chorea is the major motor abnormality, children often present with spasticity, rigidity, and significant intellectual decline associated with a more rapidly progressive course. An unusual early-onset Huntington's disease case of an 11-year-old boy with severe hypokinetic/rigid syndrome appearing at the age of 2.5 years is presented. Clinical diagnosis was confirmed by polymerase chain reaction study of the expanded IT-15 allele with a compatible size of 102 cytosine-adenosine-guanosine repeats L-Dopa mildly ameliorated rigidity, bradykinesia, and dystonia. We conclude that Huntington's disease should be included in the differential diagnoses of regressive syndromes of early childhood.

  10. Demographic features and premorbid personality disorder traits in relation to age of onset and sex in paranoid schizophrenia.

    Science.gov (United States)

    Skokou, Maria; Gourzis, Philippos

    2014-03-30

    Personality disorders in the premorbid period of schizophrenia and particularly in relation to age of onset and sex, seem to be a rather under-researched area. In the present study, 88 patients with paranoid schizophrenia were examined, regarding demographic characteristics and premorbid personality disorder traits, in order to investigate for differences in the premorbid period of the disease, in relation to age of onset and sex. Age cutoff points were set at paranoid schizophrenia.

  11. Probing the Association between Early Evolutionary Markers and Schizophrenia

    Science.gov (United States)

    Srinivasan, Saurabh; Bettella, Francesco; Hassani, Sahar; Wang, Yunpeng; Witoelar, Aree; Schork, Andrew J.; Thompson, Wesley K.; Collier, David A.; Desikan, Rahul S.; Melle, Ingrid; Dale, Anders M.; Djurovic, Srdjan; Andreassen, Ole A.

    2017-01-01

    Schizophrenia is suggested to be a by-product of the evolution in humans, a compromise for our language, creative thinking and cognitive abilities, and thus, essentially, a human disorder. The time of its origin during the course of human evolution remains unclear. Here we investigate several markers of early human evolution and their relationship to the genetic risk of schizophrenia. We tested the schizophrenia evolutionary hypothesis by analyzing genome-wide association studies of schizophrenia and other human phenotypes in a statistical framework suited for polygenic architectures. We analyzed evolutionary proxy measures: human accelerated regions, segmental duplications, and ohnologs, representing various time periods of human evolution for overlap with the human genomic loci associated with schizophrenia. Polygenic enrichment plots suggest a higher prevalence of schizophrenia associations in human accelerated regions, segmental duplications and ohnologs. However, the enrichment is mostly accounted for by linkage disequilibrium, especially with functional elements like introns and untranslated regions. Our results did not provide clear evidence that markers of early human evolution are more likely associated with schizophrenia. While SNPs associated with schizophrenia are enriched in HAR, Ohno and SD regions, the enrichment seems to be mediated by affiliation to known genomic enrichment categories. Taken together with previous results, these findings suggest that schizophrenia risk may have mainly developed more recently in human evolution. PMID:28081145

  12. Neurodevelopmental liability to schizophrenia: the complex mediating role of age at onset and premorbid adjustment

    NARCIS (Netherlands)

    Goldberg, X.; Fatjó-Vilas, M.; Penadés, M.; Miret, S.; Muñoz, M.J.; Vossen, H.; Fañanás, L.

    2011-01-01

    Large individual variation in the clinical presentation of schizophrenia-spectrum disorders raises key questions regarding their aetiological underpinnings. In this respect, age at onset of the disorder is a particularly interesting marker of liability, as it has been reported to be associated with

  13. Neurodevelopmental liability to schizophrenia: the complex mediating role of age at onset and premorbid adjustment

    NARCIS (Netherlands)

    Goldberg, X.; Fatjó-Vilas, M.; Penadés, M.; Miret, S.; Muñoz, M.J.; Vossen, H.; Fañanás, L.

    2011-01-01

    Large individual variation in the clinical presentation of schizophrenia-spectrum disorders raises key questions regarding their aetiological underpinnings. In this respect, age at onset of the disorder is a particularly interesting marker of liability, as it has been reported to be associated with

  14. Family motivational intervention for reducing cannabis use in recent-onset schizophrenia

    NARCIS (Netherlands)

    A.M. Smeerdijk

    2015-01-01

    Cannabis use in highly prevalent among young adults with recent-onset schizophrenia and has been associated with an adverse course of the illness. Despite these association, the evidence for effective interventions for treating cannabis use in patients with psychosis is limited. This thesis focuses

  15. Amygdala Connectivity Differs Among Chronic, Early Course, and Individuals at Risk for Developing Schizophrenia

    Science.gov (United States)

    Anticevic, Alan; Tang, Yanqing; Cho, Youngsun T.; Repovs, Grega; Cole, Michael W.; Savic, Aleksandar; Wang, Fei; Krystal, John H.; Xu, Ke

    2014-01-01

    Alterations in circuits involving the amygdala have been repeatedly implicated in schizophrenia neuropathology, given their role in stress, affective salience processing, and psychosis onset. Disturbances in amygdala whole-brain functional connectivity associated with schizophrenia have yet to be fully characterized despite their importance in psychosis. Moreover, it remains unknown if there are functional alterations in amygdala circuits across illness phases. To evaluate this possibility, we compared whole-brain amygdala connectivity in healthy comparison subjects (HCS), individuals at high risk (HR) for schizophrenia, individuals in the early course of schizophrenia (EC-SCZ), and patients with chronic schizophrenia (C-SCZ). We computed whole-brain resting-state connectivity using functional magnetic resonance imaging at 3T via anatomically defined individual-specific amygdala seeds. We identified significant alterations in amygdala connectivity with orbitofrontal cortex (OFC), driven by reductions in EC-SCZ and C-SCZ (effect sizes of 1.0 and 0.97, respectively), but not in HR for schizophrenia, relative to HCS. Reduced amygdala-OFC coupling was associated with schizophrenia symptom severity (r = .32, P < .015). Conversely, we identified a robust increase in amygdala connectivity with a brainstem region around noradrenergic arousal nuclei, particularly for HR individuals relative to HCS (effect size = 1.54), but not as prominently for other clinical groups. These results suggest that deficits in amygdala-OFC coupling could emerge during the initial episode of schizophrenia (EC-SCZ) and may present as an enduring feature of the illness (C-SCZ) in association with symptom severity but are not present in individuals with elevated risk for developing schizophrenia. Instead, in HR individuals, there appears to be increased connectivity in a circuit implicated in stress response. PMID:24366718

  16. Association of DNA methyltransferase 3B gene polymorphism with early-onset schizophrenia%DNA甲基转移酶3B基因在早发性精神分裂症发生过程中的作用研究

    Institute of Scientific and Technical Information of China (English)

    张晨; 方贻儒; 谢斌; 杜亚松; 程文红; 汪栋祥; 禹顺英

    2010-01-01

    Objective To investigate the association of DNA methyltransferase 3B (DNMT3B)gene polymorphism with the development of early-onset schizophrenia. Methods A single nucleotide polymorphism (rs6119954) of DNMT3B gene was genotyped in 279 early-onset schizophrenic patients and 395 healthy controls, using TaqMan SNP Genotyping Assays. To detect the interaction between the DNMT3B gene and environmental factors, the prenatal information of the patients was collected. Results Genotype distribution of the rs6119954 locus was significantly different between patients and controls (x2=12.27,P<0. 01). The frequency of the G allele of this locus was significantly higher in patients than in controls (x2 = 12. 76, P<0. 01 ). The G allele was highly associated with an earlier age of onset (P=0. 026). No interaction between the DNMT3B gene and environmental factors was found. Conclusion DNMT3Bgene is associated with early-onset schizophrenia and rs6119954 may plays an important role in age of onset of schizophrenia.%目的 探讨DNA甲基转移酶3B(DNA methyltransferase 3B,DNMT3B)基因在早发性精神分裂症发生过程中的作用.方法 采用TaqMan等位基因分型技术分析279例早发性精神分裂症患者和395名健康对照者DNMT3B基因rs6119954位点与早发性精神分裂症的关联,及其与发病年龄的关系、并调查患者母亲怀孕早期的环境因素,进一步分析DNMT3B基因与环境因素的交互作用.结果 患者组与对照组间DNM73B基因rs6119954位点的基因型频率差异具有统计学意义(x2=12.27,P<0.01),患者组rs6119954G等位基因频率显著高于对照组(x2=12.76,P<0.01);携带rs6119954G等位基因患者发病年龄明显早于不携带该等位基因患者(P=0.026);未发现DNMT3B基因与环境因素间存在交互作用.结论 DNMT3B基因与早发性精神分裂症显著关联,rs6119954位点可能是导致发病年龄提前的重要因素.

  17. Nonsurgical Management of Early-onset Scoliosis.

    Science.gov (United States)

    Thorsness, Robert J; Faust, John R; Behrend, Caleb J; Sanders, James O

    2015-09-01

    Early-onset scoliosis is potentially fatal if left untreated. Although surgical management with growing instrumentation may be necessary, this is not a panacea and is associated with high complication rates. Recent evidence has demonstrated that nonsurgical treatment can be an effective early management strategy in delaying or even precluding the need for surgery, especially surgery with growing instrumentation. The goal of both nonsurgical and surgical management is to control or correct the spinal curve to allow appropriate pulmonary development while delaying definitive fusion until an appropriate skeletal age. Although more commonly used to delay surgery, serial cast correction using the Cotrel and Morel elongation-derotation-flexion technique may result in complete correction in patients with infantile idiopathic scoliosis and smaller curve magnitudes.

  18. Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age of onset in schizophrenia

    DEFF Research Database (Denmark)

    Vares, Maria; Saetre, Peter; Deng, Hong;

    2010-01-01

    considering the possible association between MTHFR and susceptibility for schizophrenia. In order to evaluate if age of onset could explain some of this discrepancy we investigated the relationship between two functional MTHFR gene polymorphisms and age at onset in this disorder. Scandinavian patients (n......Different lines of evidence indicate that methylenetetrahydrofolate reductase (MTHFR) functional gene polymorphisms, causative in aberrant folate-homocysteine metabolism, are associated with increased vulnerability to several heritable developmental disorders. Opposing views are expressed...... = 820) diagnosed with schizophrenia, schizoaffective disorder, and schizophreniform disorder were investigated. Two functional MTHFR single nucleotide polymorphisms (SNPs; rs1801131 and rs1801133) were genotyped and the effect of MTHFR polymorphisms on the age of onset was examined with survival...

  19. Dopamine D3 receptor gene locus: Association with schizophrenia, as well age of onset

    Energy Technology Data Exchange (ETDEWEB)

    Nimgsonkar, V.L.; Zhang, X.R.; Brar, J.S. [Univ. of Pittsburgh, PA (United States)] [and others

    1994-09-01

    Genetic factors are clearly involved in the etiology of schizophrenia, but their specific nature is unknown. If the genetic etiology is multifactorial or polygenic, the role of specific genes as susceptibility factors can be directly evaluated by examining allelic variation at these loci among cases in comparison with controls. Two studies have independently demonstrated an association of schizophrenia with homozygosity at the dopamine D3 receptor gene (D3RG) locus, using a biallelic polymorphism in the first exon of D3RG. These results are important because D3RG is a favored candidate gene. Three other studies have identified associations among sub-groups of patients, but the majority were negative. The present study involved patients with schizophrenia (DSM-III-R criteria) of Caucasian or African-American ethnicity (n=130). Two groups of controls, matched for ethnicity, were used: adults screened for schizophrenia (n=128) and unselected neonates (n=160). Multivariate analysis revealed an association between allele no. 1 homozygosity and schizophrenia in comparison with adult, but not neonatal controls. The association was most marked among Caucasian patients with a family history of schizophrenia (odds ratio 13.7, C.I. 1.8, 104.3). An association of the D3RG locus with age of onset (AOO) was also noted. The discrepancies in earlier studies may due to variations in control groups, differencies in mean AOO among different cohorts, or ethnic variations in susceptibility attributable to D3RG.

  20. Prenatal and Early Life Risk Factors of Schizophrenia

    Science.gov (United States)

    Lattari, Fallon; Dragowski, Eliza A.

    2011-01-01

    Childhood-onset schizophrenia is an exceedingly rare mental illness whose complex, multifaceted behavioral presentation can disrupt child development and raise diagnostic and treatment difficulties for attending clinicians. The disorder, affecting one in 30,000 children, shares the same diagnostic criteria and symptoms as its adult counterpart,…

  1. Prenatal and Early Life Risk Factors of Schizophrenia

    Science.gov (United States)

    Lattari, Fallon; Dragowski, Eliza A.

    2011-01-01

    Childhood-onset schizophrenia is an exceedingly rare mental illness whose complex, multifaceted behavioral presentation can disrupt child development and raise diagnostic and treatment difficulties for attending clinicians. The disorder, affecting one in 30,000 children, shares the same diagnostic criteria and symptoms as its adult counterpart,…

  2. Early-onset scoliosis: current treatment.

    Science.gov (United States)

    Cunin, V

    2015-02-01

    Early-onset scoliosis, which appears before the age of 10, can be due to congenital vertebral anomalies, neuromuscular diseases, scoliosis-associated syndromes, or idiopathic causes. It can have serious consequences for lung development and significantly reduce the life expectancy compared to adolescent scoliosis. Extended posterior fusion must be avoided to prevent the crankshaft phenomenon, uneven growth of the trunk and especially restrictive lung disease. Conservative (non-surgical) treatment is used first. If this fails, fusionless surgery can be performed to delay the final fusion procedure until the patient is older. The gold standard delaying surgical treatment is the implantation of growing rods as described by Moe and colleagues in the mid-1980s. These rods, which are lengthened during short surgical procedures at regular intervals, curb the scoliosis progression until the patient reaches an age where fusion can be performed. Knowledge of this technique and its complications has led to several mechanical improvements being made, namely use of rods that can be distracted magnetically on an outpatient basis, without the need for anesthesia. Devices based on the same principle have been designed that preferentially attach to the ribs to specifically address chest wall and spine dysplasia. The second category of surgical devices consists of rods used to guide spinal growth that do not require repeated surgical procedures. The third type of fusionless surgical treatment involves slowing the growth of the scoliosis convexity to help reduce the Cobb angle. The indications are constantly changing. Improvements in surgical techniques and greater surgeon experience may help to reduce the number of complications and make this lengthy treatment acceptable to patients and their family. Long-term effects of surgery on the Cobb angle have not been compared to those involving conservative "delaying" treatments. Because the latter has fewer complications associated with

  3. Schizophrenia with childhood onset: a phenomenological study of 38 cases.

    Science.gov (United States)

    Green, W H; Padron-Gayol, M; Hardesty, A S; Bassiri, M

    1992-09-01

    Thirty-eight hospitalized children, ages 5.7 to 11.11 years, diagnosed with schizophrenic disorder by DSM-III criteria, are characterized regarding age, sex, race, socioeconomic status, pre- and perinatal complications, electroencephalogram, intelligence quotient, and family history of major psychiatric disorder. Clinical course, including age at onset of general and psychotic psychiatric symptoms and initial diagnosis of schizophrenic disorder, presence of DSM-III symptoms, hospital course, and response to antipsychotics are reviewed.

  4. Functioning in early and late stages of schizophrenia

    Directory of Open Access Journals (Sweden)

    Leonardo Gazzi Costa

    2014-12-01

    Full Text Available INTRODUCTION: Schizophrenia is frequently associated with a debilitating course and prominent impairment in social and occupational functioning. Although the criteria for classification into stages have not been defined in the literature, illness duration and functioning seem to be good candidates.OBJECTIVE:To compare functioning of patients with schizophrenia at different stages of the disease (early vs. late and healthy sex- and age-matched controls.METHODS: This double-blinded, case-controlled study included 79 individuals: 23 patients with schizophrenia diagnosed up to 5 years earlier; 19 patients with schizophrenia diagnosed at least 20 years earlier; and healthy matched controls. Diagnoses were established using the Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV Axis I Disorder. Functioning was assessed using the Functioning Assessment Short Test (FAST.RESULTS: Patients in the early stage had significantly higher scores than healthy controls in total FAST and in autonomy, occupational functioning, cognitive functioning and interpersonal relationships. Individuals in the late stage had significantly poorer functioning than controls in all domains. The comparison of functioning between the two groups of patients revealed no significant differences, except in occupational functioning, in which late stage patients had a poorer performance.CONCLUSION: Functioning impairment in schizophrenia tends to remain stable despite illness duration. Therefore, functioning should be effectively assessed at an early stage, as illness duration alone may not be the most reliable criterion to stage patients with schizophrenia.

  5. [Costs of early retirement--the case of schizophrenia].

    Science.gov (United States)

    Clouth, Johannes

    2004-11-01

    Schizophrenia is a severe psychic disorder that occurs at young age and often leads to a work disability. The disease not only induces direct costs in the health care system but also indirect costs that show up in the social security system. In this study, we apply statistics from the social security administration on early retirement due to disability. Over 6000-males and females per year retire with the diagnosis schizophrenia (classified as 295, ICD-9). The average retirement age is 39 for males and 42 for females. Schizophrenia is the most important single reason for early retirement before age 40. Of all male cases of disability retirement under the age of 40, 14.7 % are due to schizophrenia. The present discounted value of pensions paid out before the standard retirement age of 65 is 215 000 Euro for an average male. Moreover, the revenue loss in income taxes and payroll contributions amounts to 345 000 Euro. In the year 2000, a total of 125 000 persons under the age of 65, who originally entered retirement with the diagnosis schizophrenia, are estimated to be receiving a pension. The corresponding annual expenditures of the social security system reach 1.3 Billion Euro; the revenue loss (pay-roll plus income taxes) reaches 2 Billion Euro. Since only two thirds of the working age population is covered by the social security system, the costs of early retirement due to schizophrenia are underestimated by a factor of at least one third.

  6. 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

  7. Early course of schizophrenia in a representative Dutch incidence cohort

    NARCIS (Netherlands)

    Selten, Jean-Paul; Veen, Natalie D.; Hoek, Hans W.; Laan, Winfried; Schols, Diede; van der Tweel, Ingeborg; Feller, Wilma; Kahn, Rene S.

    2007-01-01

    Purpose: To describe the early course of psychotic disorders in general and to examine whether certain variables can predict the early course of schizophrenic disorders (DSM-IV: schizophrenia, schizophreniform or schizoaffective disorder), Subjects and method: Follow-up and re-diagnosis of a highly

  8. Sex-specific cognitive abnormalities in early-onset psychosis

    Directory of Open Access Journals (Sweden)

    Miguel Ruiz-Veguilla

    Full Text Available Objectives: Brain maturation differs depending on the area of the brain and sex. Girls show an earlier peak in maturation of the prefrontal cortex. Although differences between adult females and males with schizophrenia have been widely studied, there has been less research in girls and boys with psychosis. The purpose of this study was to examine differences in verbal and visual memory, verbal working memory, auditory attention, processing speed, and cognitive flexibility between boys and girls. Methods: We compared a group of 80 boys and girls with first-episode psychosis to a group of controls. Results: We found interactions between group and sex in verbal working memory (p = 0.04 and auditory attention (p = 0.01. The female controls showed better working memory (p = 0.01 and auditory attention (p = 0.001 than males. However, we did not find any sex differences in working memory (p = 0.91 or auditory attention (p = 0.93 in the psychosis group. Conclusions: These results are consistent with the presence of sex-modulated cognitive profiles at first presentation of early-onset psychosis.

  9. Semantic structure in schizophrenia as assessed by the category fluency test: effect of verbal intelligence and age of onset.

    Science.gov (United States)

    Sumiyoshi, C; Matsui, M; Sumiyoshi, T; Yamashita, I; Sumiyoshi, S; Kurachi, M

    2001-12-31

    It has been reported that long-term memory function, including the semantic structure of category, is impaired in patients with schizophrenia. The present study was performed to determine: (1) whether the deficit in semantic structure in schizophrenia is independent of cultural backgrounds, and (2) the effect of age of onset and verbal intelligence on the degradation of semantic structure in these patients. Fifty-seven Japanese patients with schizophrenia and 33 normal control subjects entered the study. The semantic structure was derived by Multidimensional Scaling (MDS) analysis based on data from the ANIMAL category fluency test. The semantic structure was compared between: (1) schizophrenic patients as a whole vs. normal control subjects; (2) earlier onset (age of onset 7) vs. low Vocabulary score patient groups. Normal control subjects demonstrated the domestic/size dimension in semantic structure, while no such dimension was obtained in patients with schizophrenia. The subgroup comparisons revealed that the later onset or the high Vocabulary score group maintained a relatively intact semantic structure compared with the earlier onset or the low Vocabulary score group, respectively. These findings suggest that the deficit in semantic structure in patients with schizophrenia is commonly observed irrespective of cultural backgrounds, and that age of onset and the level of verbal intelligence are closely related to severity of degradation of the semantic structure in schizophrenia.

  10. Long term functioning in early onset psychosis: Two years prospective follow-up study

    Directory of Open Access Journals (Sweden)

    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.

  11. [A case of late-onset schizophrenia with the predominant symptom of delusional perception of the color of food].

    Science.gov (United States)

    Yasuda, Manabu; Hinohara, Kei; Yamaga, Kuniaki; Kato, Satoshi

    2011-01-01

    Herein, we report the case of a woman in her late 60s with late-onset schizophrenia in which the predominant symptom was delusional perception of the color of food based on a delusional "rule of colors" system constructed by the patient. This paranoid type schizophrenia is considered a core type of schizophrenia in which first-rank Schneiderian symptoms are initially exhibited. After approximately four years, the chronic phase, characterized by a poor social function, is reached. In this respect, the main psychopathological characteristics of the present case of late-onset schizophrenia are the same as those of typical cases of schizophrenia in young patients. In this study, the patient's delusional "rule of colors" system is analyzed according to Matussek's theory of delusional perception.

  12. [Early onset scoliosis. What are the options?].

    Science.gov (United States)

    Farrington, D M; Tatay-Díaz, A

    2013-01-01

    The prognosis of children with progressive early onset scoliosis has improved considerably due to recent advances in surgical and non-surgical techniques and the understanding of the importance of preserving the thoracic space. Improvements in existing techniques and development of new methods have considerably improved the management of this condition. Derotational casting can be considered in children with documented progression of a <60° curve without previous surgical treatment. Both single and dual growing rods are effective, but the latter seem to offer better results. Hybrid constructs may be a better option in children who require a low-profile proximal anchor. The vertical expandable prosthetic titanium rib (VEPTR(®)) appears to be beneficial for patients with congenital scoliosis and fused ribs, and thoracic Insufficiency Syndrome. Children with medical comorbidities who may not tolerate repeated lengthenings should be considered for Shilla or Luque Trolley technique. Growth modulation using shape memory alloy staples or other tethers seem promising for mild curves, although more research is required to define their precise indications. Copyright © 2013 SECOT. Published by Elsevier Espana. All rights reserved.

  13. Isochromosome 13 in a patient with childhood-onset schizophrenia, ADHD, and motor tic disorder

    Directory of Open Access Journals (Sweden)

    Graw Sharon L

    2012-01-01

    Full Text Available Abstract Background A small percentage of all cases of schizophrenia have a childhood onset. The impact on the individual and family can be devastating. We report the results of genetic analyses from a patient with onset of visual hallucinations at 5 years, and a subsequent diagnosis at 9 years of schizophrenia, attention deficit hyperactivity disorder (ADHD with hyperactivity and impulsivity, and chronic motor tic disorder. Results Karyotypic analysis found 45,XX,i(13(q10 in all cells examined. Alpha satellite FISH of isochromosome 13 revealed a large unsplit centromeric region, interpreted as two centromeres separated by minimal or undetectable short-arm material or as a single monocentric centromere, indicating that the isochromosome likely formed post-zygotically by a short arm U-type or centromeric exchange. Characterization of chromosome 13 simple tandem repeats and Affymetrix whole-genome 6.0 SNP array hybridization found homozygosity for all markers, and the presence of only a single paternal allele in informative markers, consistent with an isodisomic isochromosome of paternal origin. Analysis of two chromosome 13 schizophrenia candidate genes, D-amino acid oxidase activator (DAOA and 5-hydroxytryptamine (serotonin receptor 2A (5-HTR2A, failed to identify non-synonymous coding mutations but did identify homozygous risk polymorphisms. Conclusions We report a female patient with childhood-onset schizophrenia, ADHD, and motor tic disorder associated with an isodisomic isochromosome 13 of paternal origin and a 45,XX,i(13(q10q10 karyotype. We examined two potential mechanisms to explain chromosome 13 involvement in the patient's pathology, including reduction to homozygosity of a paternal mutation and reduction to homozygosity of a paternal copy number variation, but were unable to identify any overtly pathogenic abnormality. Future studies may consider whether epigenetic mechanisms resulting from uniparental disomy (UPD and the lack of

  14. Clinical characteristics of early- and late-onset gout

    Science.gov (United States)

    Zhang, Bingqing; Fang, Weigang; Zeng, Xuejun; Zhang, Yun; Ma, Ya; Sheng, Feng; Zhang, Xinlei

    2016-01-01

    Abstract A retrospective cross-sectional study using data from an outpatient clinic in China was conducted to investigate the clinical features of early-onset gout patients. All patients diagnosed with gout were asked about clinical characteristics of their gout and comorbid diseases. Patients presenting with acute flares were asked about common triggers before the flare. “Early-onset” gout was defined as onset of gout before 40 years and “late-onset” as onset ≥40 years. Major joint involvement, flare frequency before presentation, the cumulative number of involved joints, proportions of tophi complications at presentation, flare triggers, as well as any metabolic, cardiovascular, cerebrovascular, and renal comorbidities, were compared between the 2 groups. A total of 778 gout patients were enrolled in this study, including 449 (57.7%) in the early-onset group and 329 (42.3%) in the late-onset group. Compared with the late-onset gout patients, the early-onset gout patients had a higher proportion of ankle/mid-foot involvement (62.8% vs 48.2%, P gout patients had fewer metabolic, cardiovascular, cerebrovascular, or renal complications. Early- and late-onset gout patients had different clinical features. Early-onset seems to be influenced more by lifestyle, while late-onset patients have more complications because of comorbidities. PMID:27893683

  15. Early prediction of blonanserin response in Japanese patients with schizophrenia.

    Science.gov (United States)

    Kishi, Taro; Matsuda, Yuki; Fujita, Kiyoshi; Iwata, Nakao

    2014-01-01

    Blonanserin is a second-generation antipsychotic used for the treatment of schizophrenia in Japan and Korea. The present study aimed to examine early prediction of blonanserin in patients with schizophrenia. An 8-week, prospective, single-arm, flexible-dose clinical trial of blonanserin in patients with schizophrenia was conducted under real-world conditions. The inclusion criteria were antipsychotic naïve, and first-episode schizophrenia patients or schizophrenia patients with no consumption of any antipsychotic medication for more than 4 weeks before enrollment in this study. The positive predictive value, negative predictive value, sensitivity, specificity, and predictive power were calculated for the response status at week 4 to predict the subsequent response at week 8. Thirty-seven patients were recruited (56.8% of them had first-episode schizophrenia), and 28 (75.7%) completed the trial. At week 8, blonanserin was associated with a significant improvement in the Positive and Negative Syndrome Scale (PANSS) total score (Pblonanserin response at week 4 could predict the later response at week 8.

  16. Non-adherence to antipsychotic medication, relapse and rehospitalisation in recent-onset schizophrenia

    Directory of Open Access Journals (Sweden)

    Widen Jan H

    2008-04-01

    Full Text Available Abstract Background The aims of this study were to describe outcome with respect to persistent psychotic symptoms, relapse of positive symptoms, hospital admissions, and application of treatment by coercion among patients with recent onset schizophrenia being adherent and non-adherent to anti-psychotic medication. Materials and methods The study included 50 patients with recent onset schizophrenia, schizoaffective or schizophreniform disorders. The patients were clinically stable at study entry and had less than 2 years duration of psychotic symptoms. Good adherence to antipsychotic medication was defined as less than one month without medication. Outcomes for poor and good adherence were compared over a 24-month follow-up period. Results The Odds Ratio (OR of having a psychotic relapse was 10.27 and the OR of being admitted to hospital was 4.00 among non-adherent patients. Use of depot-antipsychotics were associated with relapses (OR = 6.44. Conclusion Non-adherence was associated with relapse, hospital admission and having persistent psychotic symptoms. Interventions to increase adherence are needed. Trial registration Current Controlled Trials NCT00184509. Key words: Adherence, schizophrenia, antipsychotic medication, admittances, relapse.

  17. Large CAG/CTG repeats are associated with childhood-onset schizophrenia.

    Science.gov (United States)

    Burgess, C E; Lindblad, K; Sidransky, E; Yuan, Q P; Long, R T; Breschel, T; Ross, C A; McInnis, M; Lee, P; Ginns, E I; Lenane, M; Kumra, S; Jacobsen, L; Rapoport, J L; Schalling, M

    1998-07-01

    Recent studies have shown an association between trinucleotide repeat expansions (TREs) and adult-onset schizophrenia (AOS). Childhood-onset schizophrenia (COS) is a severe variant of schizophrenia with onset of symptoms before age 12 years. We have used the repeat expansion detection (RED) method to investigate the occurrence of repeat expansions in a group of well-characterized COS patients as well as a set of clinically related childhood-onset psychosis cases labeled 'multidimensionally impaired' (MDI). The difference observed in the CAG/CTG RED product distribution between normal (n = 44) and COS (n = 36) samples was only marginally significant (P = 0.036). However, male COS samples (n = 20) had a significantly different RED product distribution compared to male controls (n = 25, P = 0.002) with longer RED products in COS. No such difference was seen in females (ncont = 19; ncos = 16; P = 0.236). The difference remained significant between male COS (n = 12) and male controls (n = 24) when only Caucasian samples were used (P = 0.003). Similarly, the RED product distribution in male MDI samples (n = 18) was significantly different compared to male controls (P = 0.018). Some of the detected TREs in all three populations (COS, MDI and control) correlated with expanded alleles found at the CTG18.1 locus on chromosome 18. In conclusion, we have found an association between TREs and COS. This association is specifically significant in the male population. Thus, the occurrence of an expanded trinucleotide repeat may contribute to the genetic risk of COS, possibly in combination with other factors.

  18. 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 c

  19. 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 c

  20. 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,

  1. Psychosocial Acute Treatment in Early-Episode Schizophrenia Disorders

    Science.gov (United States)

    Bola, John R.

    2006-01-01

    Objective: This article reviews evidence on the treatment of early episode schizophrenia spectrum disorders that contradicts, in some cases, the American Psychiatric Association's generic recommendation of antipsychotic medication treatment for at least a year. Method: Evidence on lack of diagnostic validity, absence of demonstrated long-term…

  2. Genetic modifiers and subtypes in schizophrenia: investigations of age at onset, severity, sex and family history.

    Science.gov (United States)

    Bergen, Sarah E; O'Dushlaine, Colm T; Lee, Phil H; Fanous, Ayman H; Ruderfer, Douglas M; Ripke, Stephan; Sullivan, Patrick F; Smoller, Jordan W; Purcell, Shaun M; Corvin, Aiden

    2014-04-01

    Schizophrenia is a genetically and clinically heterogeneous disorder. Genetic risk factors for the disorder may differ between the sexes or between multiply affected families compared to cases with no family history. Additionally, limited data support a genetic basis for variation in onset and severity, but specific loci have not been identified. We performed genome-wide association studies (GWAS) examining genetic influences on age at onset (AAO) and illness severity as well as specific risk by sex or family history status using up to 2762 cases and 3187 controls from the International Schizophrenia Consortium (ISC). Subjects with a family history of schizophrenia demonstrated a slightly lower average AAO that was not significant following multiple testing correction (p=.048), but no differences in illness severity were observed by family history status (p=.51). Consistent with prior reports, we observed earlier AAO (p=.005) and a more severe course of illness for men (p=.002). Family history positive analyses showed the greatest association with KIF5C (p=1.96×10(-8)), however, genetic risk burden overall does not differ by family history. Separate association analyses for males and females revealed no significant sex-specific associations. The top GWAS hit for AAO was near the olfactory receptor gene OR2K2 (p=1.52×10(-7)). Analyses of illness severity (episodic vs. continuous) implicated variation in ST18 (p=8.24×10(-7)). These results confirm recognized demographic relationships but do not support a simplified genetic architecture for schizophrenia subtypes based on these variables. Copyright © 2014 Elsevier B.V. All rights reserved.

  3. [Brain development before onset of the first psychotic episode and during outcome of schizophrenia].

    Science.gov (United States)

    Falkai, P; Reich-Erkelenz, D; Malchow, B; Schmitt, A; Majtenyi, K

    2013-05-01

    A circumscribed association between copy number variations and the diagnosis of schizophrenia or autism but not bipolar disorder supports the notion of schizophrenia and autism principally representing a disturbed brain development. Data of multiply affected families show certain brain structural (e. g. hippocampal) changes to also be present in their first-grade relatives without leading to psychopathological abnormalities. It thus can be concluded that there exist regional fronto-temporal changes in schizophrenia due to genetically early determined primary vulnerability. The transition of this vulnerability into a prodrome to the point of the fully developed disease is triggered by relevant environmental factors. Hippocampal brain structural changes do not base on neuronal loss, for which reason the underlying mechanism might be a reduction of neuropil and thus a disturbance of synaptic processes or even regenerative mechanisms. Thus, disturbed regenerative mechanisms might be linked to the course of schizophrenic psychosis: the more pronounced the negative symptoms, the more evident the impaired synaptic or neuronal plasticity. Based on initial data we speculate the disturbed synaptic/plastic processes to result from an impaired epigenetic regulation. This could explain how relevant environmental factors (pregnancy and birth complications, early childhood abuse or cannabis abuse) via risk genes might lead to a destabilized neuronal network which in the end could trigger schizophrenia symptoms on the behavioral level.

  4. Neurological abnormalities in recent-onset schizophrenia and Asperger-Syndrome

    Directory of Open Access Journals (Sweden)

    Dusan eHirjak

    2014-08-01

    Full Text Available Background: Neurological abnormalities including a variety of subtle deficits such as discrete impairments in sensory integration, motor coordination, and sequencing of complex motor acts are frequently found in patients with schizophrenia and commonly referred to as neurological soft signs (NSS. Asperger-Syndrome (AS is characterized by sensory-motor difficulties as well. However, the question whether the two disorders share a common or a disease-specific pattern of NSS remains unresolved. Method: A total of 78 age- and education-matched participants (26 patients with recent-onset schizophrenia, 26 individuals with AS, and 26 healthy controls were recruited for the study. Analyses of covariance (ANCOVAs, with age, years of education and medication included as covariates, were used to examine group differences on total NSS and the five subscale scores. Discriminant analyses were employed to identify the NSS subscales that maximally discriminate between the three groups. Results: Significant differences among the three groups were found in NSS total score and on the five NSS subscales. The two clinical groups differed significantly in the NSS subscale „motor coordination. The correct discriminant rate between patients with schizophrenia and individuals with AS was 61.5%. The correct discriminant rate was 92.3% between individuals with AS and healthy controls, and 80.8% between schizophrenia patients and healthy controls, respectively. Conclusions: Our findings provide new evidence for the presence of NSS in AS and lend further support to previously reported difficulties in movement control in this disorder. According to the present results, schizophrenia and AS seem to be characterized by a different pattern of NSS.

  5. Elevated C-Reactive Protein Associated With Late- and Very-Late-Onset Schizophrenia in the General Population

    DEFF Research Database (Denmark)

    Wium-Andersen, Marie Kim; Orsted, David Dynnes; Nordestgaard, Børge Grønne

    2013-01-01

    with increased risk of late- and very-late-onset schizophrenia in the general population, and if such an association possibly is causal. Method: We analyzed data from 78 810 men and women, aged 20-100 years, from 2 large population studies. Endpoints were hospitalization with schizophrenia and schizophrenia......Background: Individuals with autoimmune diseases and severe infections have persistent or acutely elevated inflammatory biomarkers and increased risk of schizophrenia. We tested the hypothesis that baseline elevated plasma levels of the inflammatory biomarker, C-reactive protein (CRP), associate...... and schizophrenia-like psychosis combined. We performed prospective and cross-sectional analyses adjusted for potential confounders with up to 20 years of follow-up. Furthermore, we used genetic variants influencing plasma CRP levels to perform a Mendelian randomization study. Results: Age- and gender...

  6. Severe early onset ethylmalonic encephalopathy with West syndrome.

    Science.gov (United States)

    Papetti, Laura; Garone, Giacomo; Schettini, Livia; Giordano, Carla; Nicita, Francesco; Papoff, Paola; Zeviani, Massimo; Leuzzi, Vincenzo; Spalice, Alberto

    2015-12-01

    Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder characterized by early onset encephalopathy, chronic diarrhoea, petechiae, orthostatic acrocyanosis and defective cytochrome c oxidase (COX) in muscle and brain. High levels of lactic, ethylmalonic and methylsuccinic acids are detected in body fluids. EE is caused by mutations in ETHE1 gene, a mitochondrial sulfur dioxygenase. Neurologic signs and symptoms include progressively delayed development, hypotonia, seizures, and abnormal movements. We report on the clinical, electroencephalographic and MRI findings of a baby with a severe early onset encephalopathy associated with novel ETHE1 gene mutation. This is the first case described in literature with an early pure epileptic onset, presenting with West syndrome.

  7. Functional and clinical insights from neuroimaging studies in childhood-onset schizophrenia.

    Science.gov (United States)

    Ordóñez, Anna E; Sastry, Nevin V; Gogtay, Nitin

    2015-08-01

    Childhood-onset schizophrenia is a rare pediatric onset psychiatric disorder continuous with and typically more severe than its adult counterpart. Neuroimaging research conducted on this population has revealed similarly severe neural abnormalities. When taken as a whole, neuroimaging research in this population shows generally decreased cortical gray matter coupled with white matter connectivity abnormalities, suggesting an anatomical basis for deficits in executive function. Subcortical abnormalities are pronounced in limbic structures, where volumetric deficits are likely related to social skill deficits, and cerebellar deficits that have been correlated to cognitive abnormalities. Structures relevant to motor processing also show a significant alteration, with volumetric increase in basal ganglia structures likely due to antipsychotic administration. Neuroimaging of this disorder shows an important clinical image of exaggerated cortical loss, altered white matter connectivity, and differences in structural development of subcortical areas during the course of development and provides important background to the disease state.

  8. Sleep spindle deficits in antipsychotic-naïve early course schizophrenia and in non-psychotic first-degree relatives

    Directory of Open Access Journals (Sweden)

    Dara S Manoach

    2014-10-01

    Full Text Available Introduction: Chronic medicated patients with schizophrenia have marked reductions in sleep spindle activity and a correlated deficit in sleep-dependent memory consolidation. Using archival data, we investigated whether antipsychotic-naïve early course patients with schizophrenia and young non-psychotic first-degree relatives of patients with schizophrenia also show reduced sleep spindle activity and whether spindle activity correlates with cognitive function and symptoms.Method: Sleep spindles during Stage 2 sleep were compared in antipsychotic-naïve adults newly diagnosed with psychosis, young non-psychotic first-degree relatives of schizophrenia patients and two samples of healthy controls matched to the patients and relatives. The relations of spindle parameters with cognitive measures and symptom ratings were examined.Results: Early course schizophrenia patients showed significantly reduced spindle activity relative to healthy controls and to early course patients with other psychotic disorders. Relatives of schizophrenia patients also showed reduced spindle activity compared with controls. Reduced spindle activity correlated with measures of executive function in early course patients, positive symptoms in schizophrenia and IQ estimates across groups.Conclusions: Like chronic medicated schizophrenia patients, antipsychotic-naïve early course schizophrenia patients and young non-psychotic relatives of individuals with schizophrenia have reduced sleep spindle activity. These findings indicate that the spindle deficit is not an antipsychotic side-effect or a general feature of psychosis. Instead, the spindle deficit may predate the onset of schizophrenia, persist throughout its course and be an endophenotype that contributes to cognitive dysfunction.

  9. Comparing the ability of cognitive and affective Theory of Mind in adolescent onset schizophrenia

    Science.gov (United States)

    Li, Dandan; Li, Xiaosi; Yu, Fengqiong; Chen, Xingui; Zhang, Long; Li, Dan; Wei, Qiang; Zhang, Qing; Zhu, Chunyan; Wang, Kai

    2017-01-01

    Background Evidence in the literature suggests that there is an impairment of social cognition in schizophrenia. Theory of Mind (ToM) is defined as one’s ability to understand others’ wishes, beliefs, intentions, and other psychological states and thereby to judge others’ behavior, as an essential component of social cognition. However, there have been limited studies on social cognition, especially ToM in adolescent onset schizophrenia (AOS). The current study aims to investigate ToM abilities in adolescent schizophrenia according to various ToM subcomponents (cognitive ToM and affective ToM) and various ToM orders (first order and second order). Methods This study examines ToM in 35 adolescent schizophrenic patients and 35 healthy adolescents using the “Yoni task” and “Faux Pas Recognition test” to assess their affective and cognitive ToM abilities. Results In the Yoni task, patients with AOS showed differences in ToM abilities either on a different order or under different conditions. The Faux Pas Recognition task results revealed that AOS patients were not always able to recognize a faux pas or understand complicated emotions under the faux pas scenario. Furthermore, as indicated by the correlation analysis, neither cognitive ToM nor affective ToM was related to the patients’ symptoms, disease duration, dose of medication, or intelligence quotient (IQ). Conclusion Our findings showed AOS impairment in the performance of ToM tasks. It seemed that impairment in second-order-ToM is more serious. Moreover, these deficits are largely independent of symptom clusters, disease duration, dose of medication, and IQ. It can be speculated that ToM dysfunction may be a hallmark of adolescent schizophrenia.

  10. Comparing the ability of cognitive and affective Theory of Mind in adolescent onset schizophrenia.

    Science.gov (United States)

    Li, Dandan; Li, Xiaosi; Yu, Fengqiong; Chen, Xingui; Zhang, Long; Li, Dan; Wei, Qiang; Zhang, Qing; Zhu, Chunyan; Wang, Kai

    2017-01-01

    Evidence in the literature suggests that there is an impairment of social cognition in schizophrenia. Theory of Mind (ToM) is defined as one's ability to understand others' wishes, beliefs, intentions, and other psychological states and thereby to judge others' behavior, as an essential component of social cognition. However, there have been limited studies on social cognition, especially ToM in adolescent onset schizophrenia (AOS). The current study aims to investigate ToM abilities in adolescent schizophrenia according to various ToM subcomponents (cognitive ToM and affective ToM) and various ToM orders (first order and second order). This study examines ToM in 35 adolescent schizophrenic patients and 35 healthy adolescents using the "Yoni task" and "Faux Pas Recognition test" to assess their affective and cognitive ToM abilities. In the Yoni task, patients with AOS showed differences in ToM abilities either on a different order or under different conditions. The Faux Pas Recognition task results revealed that AOS patients were not always able to recognize a faux pas or understand complicated emotions under the faux pas scenario. Furthermore, as indicated by the correlation analysis, neither cognitive ToM nor affective ToM was related to the patients' symptoms, disease duration, dose of medication, or intelligence quotient (IQ). Our findings showed AOS impairment in the performance of ToM tasks. It seemed that impairment in second-order-ToM is more serious. Moreover, these deficits are largely independent of symptom clusters, disease duration, dose of medication, and IQ. It can be speculated that ToM dysfunction may be a hallmark of adolescent schizophrenia.

  11. COMPARATIVE STUDY OF MATERNAL AND PERINATAL OUTCOME IN EARLY ONSET AND LATE ONSET PREECLAMPSIA

    Directory of Open Access Journals (Sweden)

    Sreedevi Atluri

    2017-01-01

    Full Text Available BACKGROUND Preeclampsia is the leading cause of maternal and perinatal morbidity and mortality worldwide, the exact aetiology of which is still unknown. The concept of early and late pre-eclampsia depending on gestational age at onset is more modern and is widely accepted that these two entities have different aetiologies and should be considered as different forms of the disease. Even though the presenting features overlap, these two entities of preeclampsia differ by biochemical markers, maternal and foetal outcomes. Aim of the Study- This study compares early-onset preeclampsia and late-onset preeclampsia with respect to their clinical presentation, laboratory parameters, management options, maternal and foetal outcomes which gives us an idea that these two preeclampsia subtypes have different pathological processes and a need for varied clinical approach to prevent adverse outcomes. METHODS This is a prospective comparative study conducted in JSS Hospital, Mysore from November, 2014 to June, 2016. All Antenatal cases (both booked and unbooked with gestational age ≥20 weeks between 18 yrs. and 40 yrs. of age diagnosed as preeclampsia as per the inclusion and exclusion criteria attending the outpatient department or admitted were selected and divided in to two groups, early onset preeclampsia (EOP group if gestational age at onset of preeclampsia is before 34 weeks and late onset preeclampsia if gestational age at onset is at 34 weeks or later were observed until delivery and early postpartum period and babies till early neonatal period. RESULTS A total of 158 patients at >20 weeks of gestation with preeclampsia were enrolled for this study. Early-onset Preeclampsia (EOP and Late-onset Preeclampsia (LOP had 75 and 83 pre eclamptic women respectively. Early onset group had severe clinical picture with deranged laboratory findings (Thrombocytopenia, altered liver enzymes, lactic dehydrogenase (LDH levels, urea and creatinine levels compared to

  12. Quantitative magnetic resonance imaging volumetry distinguishes delusional disorder from late-onset schizophrenia.

    Science.gov (United States)

    Howard, R J; Almeida, O; Levy, R; Graves, P; Graves, M

    1994-10-01

    Late paraphrenia is recognised as a heterogeneous disorder. This is reflected by the division of such patients into schizophrenia and delusional disorder in ICD-10. Earlier imaging studies have suggested that major structural abnormalities may be associated with the onset of psychosis in later life. Fifty late paraphrenics and 35 age-matched healthy controls underwent structural magnetic resonance imaging of the whole brain in the coronal plane. Measurements were made of intracranial and brain volumes and the volumes of the intracerebral and extracerebral cerebrospinal fluid spaces. No differences in intracranial, brain or extracerebral cerebrospinal fluid volumes between patients and controls were found. Late paraphrenic patients had greater lateral and third ventricle volumes than controls and the left lateral ventricle was larger than the right. When the patients were divided into appropriate ICD-10 diagnoses: paranoid schizophrenia (n = 31) and delusional disorder (n = 16), lateral ventricle volumes in the delusional disorder patients were much greater than those of the schizophrenics and almost twice those of controls. Structural brain differences underly diagnostic heterogeneity within late paraphrenia. The brains of late onset schizophrenics are only subtly different from those of healthy elderly individuals.

  13. Prevalence of psychiatric illness in primary caretakers of childhood-onset schizophrenia subjects

    Directory of Open Access Journals (Sweden)

    Randal G. Ross

    2012-07-01

    Full Text Available Childhood-onset schizophrenia (COS refers to schizophrenia with onset of psychotic symptoms prior to a child’s 13th birthday. Optimal treatment likely includes family-based services supplementing antipsychotic pharmacotherapy. However, family-based services can require adjustment based on parental psychopathology; there has been little literature exploring the frequency or type of psychopathology seen in parents of COS cases. This report includes the results of a structured psychiatric evaluation on 80 parents of a COS case with comparison to a sample of 304 parents. Having a child with psychosis and being of minority racial/ethnicity status increased risk for psychiatric illness. Psychotic disorders (15% vs. 5%, mood disorders (54% vs. 27%, anxiety disorders (30% vs. 18%, and substance use disorders (49% vs. 31% were all increased in the parents with a psychotic child. Psychiatric illness is common in parents of a child with COS and will need to be consid- ered as family-based services for COS are developed.

  14. DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease

    NARCIS (Netherlands)

    Olgiati, Simone; Quadri, Marialuisa; Fang, Mingyan; Rood, Janneke P. M. A.; Saute, Jonas A.; Chien, Hsin Fen; Bouwkamp, Christian G.; Graafland, Josja; Minneboo, Michelle; Breedveld, Guido J.; Zhang, Jianguo; Verheijen, Frans W.; Boon, Agnita J. W.; Kievit, Anneke J. A.; Jardim, Laura Bannach; Mandemakers, Wim; Barbosa, Egberto Reis; Rieder, Carlos R. M.; Leenders, Klaus L.; Wang, Jun; Bonifati, Vincenzo

    ObjectiveDNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age MethodsThe DNAJC6 open reading frame was analyzed in 274 patients with early-onset sporadic or familial PD. Selected variants were followed up by cosegregation, homozygosity

  15. Lost human capital from early-onset chronic depression.

    Science.gov (United States)

    Berndt, E R; Koran, L M; Finkelstein, S N; Gelenberg, A J; Kornstein, S G; Miller, I M; Thase, M E; Trapp, G A; Keller, M B

    2000-06-01

    Chronic depression starts at an early age for many individuals and could affect their accumulation of "human capital" (i.e., education, higher amounts of which can broaden occupational choice and increase earnings potential). The authors examined the impact, by gender, of early- (before age 22) versus late-onset major depressive disorder on educational attainment. They also determined whether the efficacy and sustainability of antidepressant treatments and psychosocial outcomes vary by age at onset and quantified the impact of early- versus late-onset, as well as never-occurring, major depressive disorder on expected lifetime earnings. The authors used logistic and multivariate regression methods to analyze data from a three-phase, multicenter, double-blind, randomized trial that compared sertraline and imipramine treatment of 531 patients with chronic depression aged 30 years and older. These data were integrated with U.S. Census Bureau data on 1995 earnings by age, educational attainment, and gender. Early-onset major depressive disorder adversely affected the educational attainment of women but not of men. No significant difference in treatment responsiveness by age at onset was observed after 12 weeks of acute treatment or, for subjects rated as having responded, after 76 weeks of maintenance treatment. A randomly selected 21-year-old woman with early-onset major depressive disorder in 1995 could expect future annual earnings that were 12%-18% lower than those of a randomly selected 21-year-old woman whose onset of major depressive disorder occurred after age 21 or not at all. Early-onset major depressive disorder causes substantial human capital loss, particularly for women. Detection and effective treatment of early-onset major depressive disorder may have substantial economic benefits.

  16. Blood-Based Biomarkers of Early-Onset Breast Cancer

    Science.gov (United States)

    2015-10-01

    AWARD NUMBER: W81XWH-13-1-0214 TITLE: Blood -based biomarkers of early-onset breast cancer PRINCIPAL INVESTIGATOR: Nasim Ahmadiyeh...DATES COVERED 30 Sep 2014 - 29 Sep 2015 4. TITLE AND SUBTITLE Blood -based biomarkers of early-onset breast cancer 5a. CONTRACT NUMBER W81XWH-13-1...While the normal breast is the ideal tissue in which to study this phenomenon, gene expression profiling of blood lymphocytes has been successfully

  17. Neurocognitive Functioning in Schizophrenia and during the Early Phases of Psychosis: Targeting Cognitive Remediation Interventions

    Directory of Open Access Journals (Sweden)

    Yulia Zaytseva

    2013-01-01

    Full Text Available Recent interest in the early course of schizophrenia accentuated altered cognition prior to the onset. Ultrahigh risk (UHR individuals with attenuated positive symptoms and transient psychotic episodes demonstrate neurocognitive deficits across multiple domains such as memory, executive functioning, and processing speed which are consistent with similar disturbances identified in patients with a first episode of schizophrenia. Cognitive remediation (CR approaches representing a broad set of activities are aimed to restore or improve cognitive functioning. CR proved to be effective in modulating the cognitive dysfunction in schizophrenia but is rarely used in ultrahigh risk individuals. From the clinical prospective, a better understanding of cognitive functioning in at-risk states is essential for the development of optimal early intervention models. In the review, we highlight the intervention targets, notably the specific cognitive deficits in at risk individuals which preceed the transition to psychosis and emphasize the need of the additional studies using CR approaches in UHR group aiming to enhance cognition and therefore mediate functional improvement.

  18. Risperidone Nonadherence and Return of Positive Symptoms in the Early Course of Schizophrenia

    Science.gov (United States)

    Subotnik, Kenneth L.; Nuechterlein, Keith H.; Ventura, Joseph; Gitlin, Michael J.; Marder, Stephen; Mintz, Jim; Hellemann, Gerhard S.; Thornton, Leslie A.; Singh, Indira R.

    2016-01-01

    Objective This study examined the effect of medication nonadherence on the return of positive symptoms among recent-onset schizophrenia patients. Method Three sets of operational criteria for medication nonadherence with differing levels of severity were compared for their ability to predict relapse. Explicit operational criteria are provided with the hope that they will be adopted by others. Psychotic symptoms were prospectively rated on a frequent basis, and systematic criteria were applied using a computer scoring program to identify periods of psychotic symptom return. In addition, a specialized statistical survival analysis method, optimal for examining risk periods and outcomes that can recur during the follow-up assessment, was used. Results As hypothesized, medication nonadherence robustly predicted a return of psychotic symptoms during the early phase of schizophrenia (hazard ratios=3.7–28.5, depending on the severity of nonadherence). Conclusions Even brief periods of partial nonadherence lead to greater risk of relapse than what is commonly assumed. Patients in the early phase of schizophrenia should be cautioned about the possible consequences of partial or relatively brief periods of antipsychotic medication nonadherence. PMID:21205805

  19. DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

    Science.gov (United States)

    Olgiati, Simone; Quadri, Marialuisa; Fang, Mingyan; Rood, Janneke P M A; Saute, Jonas A; Chien, Hsin Fen; Bouwkamp, Christian G; Graafland, Josja; Minneboo, Michelle; Breedveld, Guido J; Zhang, Jianguo; Verheijen, Frans W; Boon, Agnita J W; Kievit, Anneke J A; Jardim, Laura Bannach; Mandemakers, Wim; Barbosa, Egberto Reis; Rieder, Carlos R M; Leenders, Klaus L; Wang, Jun; Bonifati, Vincenzo

    2016-02-01

    DNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age < 11), prominent atypical signs, poor or absent response to levodopa, and rapid progression (wheelchair-bound within ∼10 years from onset). Here, for the first time, we report DNAJC6 mutations in early-onset Parkinson's disease (PD). The DNAJC6 open reading frame was analyzed in 274 patients with early-onset sporadic or familial PD. Selected variants were followed up by cosegregation, homozygosity mapping, linkage analysis, whole-exome sequencing, and protein studies. We identified two families with different novel homozygous DNAJC6 mutations segregating with PD. In each family, the DNAJC6 mutation was flanked by long runs of homozygosity within highest linkage peaks. Exome sequencing did not detect additional pathogenic variants within the linkage regions. In both families, patients showed severely decreased steady-state levels of the auxilin protein in fibroblasts. We also identified a sporadic patient carrying two rare noncoding DNAJC6 variants possibly effecting RNA splicing. All these cases fulfilled the criteria for a clinical diagnosis of early-onset PD, had symptoms onset in the third-to-fifth decade, and slow disease progression. Response to dopaminergic therapies was prominent, but, in some patients, limited by psychiatric side effects. The phenotype overlaps that of other monogenic forms of early-onset PD. Our findings delineate a novel form of hereditary early-onset PD. Screening of DNAJC6 is warranted in all patients with early-onset PD compatible with autosomal recessive inheritance. Our data provide further evidence for the involvement of synaptic vesicles endocytosis and trafficking in PD pathogenesis. © 2016 American Neurological Association.

  20. Early-onset colorectal cancer: a sporadic or inherited disease?

    Science.gov (United States)

    Stigliano, Vittoria; Sanchez-Mete, Lupe; Martayan, Aline; Anti, Marcello

    2014-09-21

    Colorectal cancer is the third most common cancer diagnosed worldwide. Although epidemiology data show a marked variability around the world, its overall incidence rate shows a slow but steady decrease, mainly in developed countries. Conversely, early-onset colorectal cancer appears to display an opposite trend with an overall prevalence in United States and European Union ranging from 3.0% and 8.6%. Colorectal cancer has a substantial proportion of familial cases. In particular, early age at onset is especially suggestive of hereditary predisposition. The clinicopathological and molecular features of colorectal cancer cases show a marked heterogeneity not only between early- and late-onset cases but also within the early-onset group. Two distinct subtypes of early-onset colorectal cancers can be identified: a "sporadic" subtype, usually without family history, and an inherited subtype arising in the context of well defined hereditary syndromes. The pathogenesis of the early-onset disease is substantially well characterized in the inherited subtype, which is mainly associated to the Lynch syndrome and occasionally to other rare mendelian diseases, whereas in the "sporadic" subtype the origin of the disease may be attributed to the presence of various common/rare genetic variants, so far largely unidentified, displaying variable penetrance. These variants are thought to act cumulatively to increase the risk of colorectal cancer, and presumably to also anticipate its onset. Efforts are ongoing in the attempt to unravel the intricate genetic basis of this "sporadic" early-onset disease. A better knowledge of molecular entities and pathways may impact on family-tailored prevention and clinical management strategies.

  1. Brain structure abnormalities in early-onset and adolescent-onset conduct disorder.

    Science.gov (United States)

    Fairchild, Graeme; Passamonti, Luca; Hurford, Georgina; Hagan, Cindy C; von dem Hagen, Elisabeth A H; van Goozen, Stephanie H M; Goodyer, Ian M; Calder, Andrew J

    2011-06-01

    The developmental taxonomic theory proposes that neurodevelopmental factors play a critical role in the etiology of early-onset conduct disorder, whereas adolescent-onset conduct disorder arises as a result of social mimicry of deviant peers. Recent studies have challenged this theory by demonstrating that adolescents with both early- and adolescent-onset forms of conduct disorder show impaired emotional learning and abnormal neural activation during facial expression processing. The present study extends this work by investigating brain structure in both subtypes of conduct disorder. Voxel-based morphometry was used to compare gray matter volumes in four regions of interest (amygdala, insula, anterior cingulate, and orbitofrontal cortex) in male adolescents with early-onset (N=36) or adolescent-onset (N=27) conduct disorder and in healthy comparison subjects (N=27). Whole-brain structural analyses were also performed. The combined conduct disorder group displayed gray matter volume reductions in the bilateral amygdala, extending into the insula, relative to healthy comparison subjects. Separate comparisons between healthy subjects and each conduct disorder subgroup revealed lower amygdala volume in both subgroups and reduced right insula volume in the adolescent-onset subgroup. Regression analyses within the conduct disorder subjects alone demonstrated a negative correlation between conduct disorder symptoms and right insula volume. The results demonstrate that gray matter volume reductions in brain regions involved in processing socioemotional stimuli are associated with conduct disorder, regardless of age of onset. Brain structural abnormalities may contribute to the emergence of adolescent-onset as well as early-onset conduct disorder.

  2. Schizophrenia

    Science.gov (United States)

    ... local NAMI About NAMI + x IN THIS SECTION Esquizofrenia Share NAMI Share Home Learn More Mental Health Conditions Schizophrenia IN THIS SECTION Esquizofrenia Schizophrenia Overview Treatment Support Discuss Schizophrenia is a ...

  3. Detection of polyglutamine expansion in a new acidic protein: a candidate for childhood onset schizophrenia?

    Science.gov (United States)

    Moriniere, S; Saada, C; Holbert, S; Sidransky, E; Galat, A; Ginns, E; Rapoport, J L; Neri, C

    1999-01-01

    Polyglutamine expansion (PGE) encoded by a CAG repeat underlies eight inherited neurodegenerative diseases, among which is Huntington's disease. CAG expansion has also been reported in schizophrenia, suggesting a role for PGE. To investigate the potential role of PGE as a candidate for schizophrenia, we searched for PGE in nuclear families comprising a patient affected by childhood onset schizophrenia (COS, a rare and severe form of the disease) as a variation of the candidate gene approach for identifying susceptibility genes. We tested lymphoblastoid cell lines from COS patients (n = 32) by Western blot analysis with 1C2, a monoclonal antibody that specifically recognizes long polyglutamines. Eight of 11 unrelated black American COS patients showed a 60-kDa (approximately) band indicative of PGE. A strong 60-kDa band (suggestive of a large PGE) was detected in two of the eight positive patients. A weaker 60-kDa band (suggestive of a smaller and non pathogenic PGE) was detected in some unaffected parents or sibs of these two COS patients, and in six other black American COS patients. The strong and weak PGE signals were found to correspond to two different proteins. Unrelated black Americans unaffected by COS (n = 38) were negative for the strong 60-kDa PGE signal. Healthy white Americans (n = 53) were negative for both the strong and weak 60-kDa PGE signals. Two-dimensional gel analysis suggested that the strong PGE signal corresponds to an acidic (pI 4 approximately) protein and resulted in a more precise estimation (52-57 kDa) of its relative mass. This protein appeared to be not represented in Genbank, as suggested by the exclusion of several candidate CAG repeats. Our data suggest that this acidic protein might be a candidate for COS.

  4. Association of gender and schizophrenia subtype with age at disease onset in a cohort from rural Turkey

    Directory of Open Access Journals (Sweden)

    Hasan Belli

    2012-03-01

    Full Text Available Background and Objectives: This study was designed to investigate the association of the gender and subtype diagnosis with the onset age of the disease, marriage, reproductive rates in the schizophrenic inpatients. Methods: Total of 463 patients (329 males and 134 females hospitalized with the diagnosis of schizophrenia according to DSM-IV criteria and who were between 15-65 years of age were included in the study. We evaluated the age, gender, marital status, number of children, onset of the disease and subtype of schizophrenia. Results: Mean of onset of the disease score was higher statistically in the females (27.6 ± 4.3 than the males (23.7 ± 3.9 (p < 0.05 in our study. The paranoid subtype was the commonest, while women were more likely to be married than men, men had more children than women; and the paranoid subtype were more likely to be married than the other groups. Conclusions: Onset age of schizophrenia was four years higher in the women than in men and that the rates of the schizophrenia subtypes were consistent with those detected in the other studies demonstrates that these rates were determined by neurobiological mechanisms rather than socio-cultural factors.

  5. Early prediction of blonanserin response in Japanese patients with schizophrenia

    Directory of Open Access Journals (Sweden)

    Kishi T

    2014-09-01

    Full Text Available Taro Kishi,1 Yuki Matsuda,1 Kiyoshi Fujita,2,3 Nakao Iwata1 1Department of Psychiatry, Fujita Health University School of Medicine, Toyoake, Aichi, Japan; 2Department of Psychiatry, Okehazama Hospital, Toyoake, Aichi, Japan; 3The Neuroscience Research Center, Toyoake, Aichi, Japan Background: Blonanserin is a second-generation antipsychotic used for the treatment of schizophrenia in Japan and Korea. The present study aimed to examine early prediction of blonanserin in patients with schizophrenia. Methods: An 8-week, prospective, single-arm, flexible-dose clinical trial of blonanserin in patients with schizophrenia was conducted under real-world conditions. The inclusion criteria were antipsychotic naïve, and first-episode schizophrenia patients or schizophrenia patients with no consumption of any antipsychotic medication for more than 4 weeks before enrollment in this study. The positive predictive value, negative predictive value, sensitivity, specificity, and predictive power were calculated for the response status at week 4 to predict the subsequent response at week 8.Results: Thirty-seven patients were recruited (56.8% of them had first-episode schizophrenia, and 28 (75.7% completed the trial. At week 8, blonanserin was associated with a significant improvement in the Positive and Negative Syndrome Scale (PANSS total score (P<0.0001 and in positive (P<0.0001, negative (P<0.0001, and general subscale scores (P<0.0001. In terms of percentage improvement of PANSS total scores from baseline to week 8, 64.9% of patients showed a ≥20% reduction in the PANSS total score and 48.6% showed a ≥30% reduction. However, 8.1% of patients experienced at least one adverse event. Using the 20% reduction in the PANSS total score at week 4 as a definition of an early response, the negative predictive values for later responses (ie, reductions of ≥30 and ≥40 in the PANSS total scores were 88.9% and 94.1%, respectively. The specificities were 80.0% and

  6. Diagnosis of Late Stage, Early Onset, Small Fiber Polyneuropathy

    Science.gov (United States)

    2016-10-01

    additionally discovered SFPN that affects adolescents and adults [2]. This early-onset SFPN usually begins in adolescence or early adulthood but can...promote early diagnosis. What was the impact on other disciplines? Nothing to report. What was the impact on technology transfer? Nothing to report...What was the impact on society beyond science and technology ? As described above, Veterans’ health and, by extension, public health will be

  7. Association analysis of the brain-derived neurotrophic factor gene polymorphisms with early-onset schizophrenia in the Chinese population%脑源性神经营养因子基因多态性与早发精神分裂症的关联分析

    Institute of Scientific and Technical Information of China (English)

    易正辉; 方贻儒; 禹顺英; 张晨; 李则挚; 卢卫红; 杜亚松; 范娟; 汪栋祥; 刘漪; 傅迎美

    2012-01-01

    目的 探讨中国汉族人群脑源性神经营养因子(BDNF)基因rs11030101和rs6265多态性与早发精神分裂症的关联性.方法 采用TaqMan法,检测360例早发精神分裂症患者(患者组,起病年龄<18岁)和399名健康对照(对照组)BDNF基因rs11030101及rs6265 2个多态位点,并对等位基因、基因型及单体型频率进行比较.结果 (1)患者组与对照组rs11030101等位基因分布和基因型分布的差异均有统计学意义[x2 =5.13,自由度(df)=1,P=0.024;x2=6.12,df=2,P=0.047],但经Bonferroni校正检验后,只有等位基因分布的差异有统计学意义(P =0.048);单体型分析显示,患者组与对照组A-Val及T-Val分布的差异有统计学意义(x2=7.96,P=0.005;x2=8.53,P =0.004).(2)在女性人群中,患者组与对照组rs11030101基因型分布的差异有统计学意义(x2=7.76,df=2,P=0.021),经Bonferroni校正检验后差异仍有统计学意义(P=0.042);单体型T-Val及T-Met分布的差异均有统计学意义(x2=6.90,P=0.009;x2=4.60,P=0.032).结论 在中国汉族人群中BDNF基因可能与早发精神分裂症存在关联,尤其与女性早发精神分裂症存在关联,其可能是女性早发精神分裂症的易患基因.%Objective To investigate the relationship between the brain-derived neurotrophic factor (BDNF) gene Tag SNPs (rs11030101 and rs6265) and early-onset schizophrenia in the Chinese Han population.Methods The tag single nucleotide polymorphisms(tag SNPs) rs11030101 and rs6265 in the BDNF gene wcrc genotypcd in 360 early-onset schizophrenics and 399 controls subjects.Single nucleotide polymorphism association and haplotype analysis were performed.Results (1) There were significantly difference in allele and genotype frequencies between patients and control subjects for rs11030101 (x2 =5.13,df=1,P=0.024; x2 =6.12,df=2,P =0.047) and haplotypes A-Val and T-Val (x2 =7.96,P =0.005 ;x2 =8.53,P =0.004),and the difference in allele frequencies was still statistically significant

  8. Comparing the ability of cognitive and affective Theory of Mind in adolescent onset schizophrenia

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    Li D

    2017-03-01

    Full Text Available Dandan Li,1,2,* Xiaosi Li,3,* Fengqiong Yu,1,2 Xingui Chen,2,4 Long Zhang,2,4 Dan Li,2,4 Qiang Wei,2,4 Qing Zhang,1,2 Chunyan Zhu,1,2 Kai Wang1,2,4 1Department of Medical Psychology, Anhui Medical University, Hefei, 2Collaborative Innovation Centre of Neuropsychiatric Disorders and Mental Health, Anhui Province, 3Mental Health Center of Anhui Province, 4Department of Neurology, The First Affiliated Hospital of Anhui Medical University, Hefei, China *These authors contributed equally to this work Background: Evidence in the literature suggests that there is an impairment of social cognition in schizophrenia. Theory of Mind (ToM is defined as one’s ability to understand others’ wishes, beliefs, intentions, and other psychological states and thereby to judge others’ behavior, as an essential component of social cognition. However, there have been limited studies on social cognition, especially ToM in adolescent onset schizophrenia (AOS. The current study aims to investigate ToM abilities in adolescent schizophrenia according to various ToM subcomponents (cognitive ToM and affective ToM and various ToM orders (first order and second order.Methods: This study examines ToM in 35 adolescent schizophrenic patients and 35 healthy adolescents using the “Yoni task” and “Faux Pas Recognition test” to assess their affective and cognitive ToM abilities.Results: In the Yoni task, patients with AOS showed differences in ToM abilities either on a different order or under different conditions. The Faux Pas Recognition task results revealed that AOS patients were not always able to recognize a faux pas or understand complicated emotions under the faux pas scenario. Furthermore, as indicated by the correlation analysis, neither cognitive ToM nor affective ToM was related to the patients’ symptoms, disease duration, dose of medication, or intelligence quotient (IQ.Conclusion: Our findings showed AOS impairment in the performance of ToM tasks. It

  9. Argyrophilic grain disease as a neurodegenerative substrate in late-onset schizophrenia and delusional disorders.

    Science.gov (United States)

    Nagao, Shigeto; Yokota, Osamu; Ikeda, Chikako; Takeda, Naoya; Ishizu, Hideki; Kuroda, Shigetoshi; Sudo, Koichiro; Terada, Seishi; Murayama, Shigeo; Uchitomi, Yosuke

    2014-06-01

    To study the relationship between neurodegenerative diseases including argyrophilic grain disease (AGD) and late-onset schizophrenia and delusional disorders (LOSD; onset ≥40 years of age), we pathologically examined 23 patients with LOSD, 71 age-matched normal controls, and 22 psychiatric disease controls (11 depression, six personality disorder, two bipolar disorders, and three neurotic disorders cases). In all LOSD cases (compared to age-matched normal controls), the frequencies of Lewy body disease (LBD), AGD, and corticobasal degeneration (CBD) were 26.1 % (11.3 %), 21.7 % (8.5 %), and 4.3 % (0.0 %), respectively. There was no case of pure Alzheimer's disease (AD). The total frequency of LBD, AGD, and CBD was significantly higher in LOSD cases than in normal controls. Argyrophilic grains were significantly more severe in LOSD than in controls, but were almost completely restricted to the limbic system and adjacent temporal cortex. In LOSD patients whose onset occurred at ≥65 years of age (versus age-matched normal controls), the frequencies of LBD and AGD were 36.4 % (19.4 %) and 36.4 % (8.3 %), respectively, and AGD was significantly more frequent in LOSD patients than in normal controls. In LOSD patients whose onset occurred at <65 years of age, the frequencies of LBD, AGD, and CBD were 16.7, 8.3, and 8.3 %, comparable to those of age-matched normal controls (10.2, 5.1, and 0.0 %). In all psychiatric cases, delusion was significantly more frequent in AGD cases than in cases bearing minimal AD pathology alone. Given these findings, LOSD patients may have heterogeneous pathological backgrounds, and AGD may be associated with the occurrence of LOSD especially after 65 years of age.

  10. 精神分裂症患者早发性和迟发性药源性强迫症状临床分析%Clinical analysis of early-onset and late-onset obsessive-compulsive symptoms induced by drugs for patients with schizophrenia

    Institute of Scientific and Technical Information of China (English)

    张海涛; 陈玉清; 郑丽卿; 孙启美; 王龙; 吴辉颜

    2014-01-01

    目的::比较精神分裂症患者早发性和迟发性药源性强迫症状临床特征的差异,以进一步了解药源性强迫症状。方法:采用自编调查表、CGI及自知力评定工具,调查分析723例精神分裂症患者中出现药源性强迫症状的比率、时间及药物使用情况,并对其中19例早发性药源性强迫症状患者(早发组)和43例迟发性药源性强迫症状患者(迟发组)进行分析比较。结果:①精神分裂症伴强迫症状者127例,药源性强迫症状73例,以服用氯氮平致强迫症状发生率高;②两组患者相比,迟发组患者中强迫症状荒谬性较多,对疾病的自知力较差,迟发组患者疗效差,CGI-SI评分高于早发组;③在强迫的分布上迟发组仅有强迫行为较多。结论:早发性和迟发性药源性强迫症状有不同的临床特点,后者对症状的认识较差,疗效欠佳。%Objective:To compare differences of clinical features of early-onset ( EDO) and late-onset ( LDO) drug-induced obsessive-compulsive symptoms, in order to well understand the drug-induced obsessive-compulsive symptoms. Methods:723 schiz﹣ophrenic patients were interviewed using the self-designed questionnaire, CGI and insight assessment tool. The incidence, occurrence time and the drugs they had used were analyzed in 19 patients with EDO ( EDO group) and 43 patients with LDO ( LDO group) . Re﹣sults:(1) Of the 723 schizophrenic patients, 127 cases were identified with obsessive-compulsive symptoms, wherein 73 cases were induced by the drugs (10. 1%);The highest incidence of emergence of obsessive-compulsive symptoms was observed during the treat﹣ment with clozapine. (2) The patients with LDO showed more symptoms with forced absurdity and poorer insight of the symptoms. Their curative effect was worse than that of those with EDO. LDO group had higher CGI-SI scores than EDO group. (3) The incidence of only compulsive behavior in the patients with LDO was higher than

  11. A genome-wide linkage scan for distinct subsets of schizophrenia characterized by age at onset and neurocognitive deficits.

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    Yin-Ju Lien

    Full Text Available BACKGROUND: As schizophrenia is genetically and phenotypically heterogeneous, targeting genetically informative phenotypes may help identify greater linkage signals. The aim of the study is to evaluate the genetic linkage evidence for schizophrenia in subsets of families with earlier age at onset or greater neurocognitive deficits. METHODS: Patients with schizophrenia (n  =  1,207 and their first-degree relatives (n  =  1,035 from 557 families with schizophrenia were recruited from six data collection field research centers throughout Taiwan. Subjects completed a face-to-face semi-structured interview, the Continuous Performance Test (CPT, the Wisconsin Card Sorting Test, and were genotyped with 386 microsatellite markers across the genome. RESULTS: A maximum nonparametric logarithm of odds (LOD score of 4.17 at 2q22.1 was found in 295 families ranked by increasing age at onset, which had significant increases in the maximum LOD score compared with those obtained in initial linkage analyses using all available families. Based on this subset, a further subsetting by false alarm rate on the undegraded and degraded CPT obtained further increase in the nested subset-based LOD on 2q22.1, with a score of 7.36 in 228 families and 7.71 in 243 families, respectively. CONCLUSION: We found possible evidence of linkage on chromosome 2q22.1 in families of schizophrenia patients with more CPT false alarm rates nested within the families with younger age at onset. These results highlight the importance of incorporating genetically informative phenotypes in unraveling the complex genetics of schizophrenia.

  12. Association of age-of-onset groups with GWAS significant schizophrenia and bipolar disorder loci in Romanian bipolar I patients.

    Science.gov (United States)

    Grigoroiu-Serbanescu, Maria; Diaconu, Carmen C; Heilmann-Heimbach, Stefanie; Neagu, Ana Iulia; Becker, Tim

    2015-12-30

    We investigated the influence of the age-of-onset (AO) on the association of 45 loci conferring risk for bipolar disorder (BP) and schizophrenia with BP-type-I in a Romanian sample (461 patients, 436 controls). The AO-analysis implicated the EGFR gene, as well as loci in other genes, in the AO variation of BP-type-I and revealed for the first time the link between BP-type-I and risk variants considered specific to schizophrenia (polymorphisms in MMP16/RIPK2 and CNNM2 genes).

  13. The rationale for early intervention in schizophrenia and related disorders

    DEFF Research Database (Denmark)

    Nordentoft, Merete; Jeppesen, Pia; Petersen, Lone

    2009-01-01

    and the initiation of treatment. The average duration of untreated psychosis is around 1–2 years. During this period, brain function may continue to deteriorate and social networks can be irreversibly damaged. Studies have consistently linked longer duration of untreated psychosis with poorer outcomes......, adherence to treatment, comorbid drug abuse, relapse and readmission. Some benefits persist after cessation of the intervention. Conclusions: Early intervention in schizophrenia is justified to reduce the negative personal and social impact of prolonged periods of untreated symptoms. Furthermore, phase...

  14. Metabolic profiling of CSF: evidence that early intervention may impact on disease progression and outcome in schizophrenia.

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    Elaine Holmes

    2006-08-01

    Full Text Available BACKGROUND: The identification of schizophrenia biomarkers is a crucial step towards improving current diagnosis, developing new presymptomatic treatments, identifying high-risk individuals and disease subgroups, and assessing the efficacy of preventative interventions at a rate that is not currently possible. METHODS AND FINDINGS: (1H nuclear magnetic resonance spectroscopy in conjunction with computerized pattern recognition analysis were employed to investigate metabolic profiles of a total of 152 cerebrospinal fluid (CSF samples from drug-naïve or minimally treated patients with first-onset paranoid schizophrenia (referred to as "schizophrenia" in the following text and healthy controls. Partial least square discriminant analysis showed a highly significant separation of patients with first-onset schizophrenia away from healthy controls. Short-term treatment with antipsychotic medication resulted in a normalization of the disease signature in over half the patients, well before overt clinical improvement. No normalization was observed in patients in which treatment had not been initiated at first presentation, providing the first molecular evidence for the importance of early intervention for psychotic disorders. Furthermore, the alterations identified in drug-naïve patients could be validated in a test sample set achieving a sensitivity and specificity of 82% and 85%, respectively. CONCLUSIONS: Our findings suggest brain-specific alterations in glucoregulatory processes in the CSF of drug-naïve patients with first-onset schizophrenia, implying that these abnormalities are intrinsic to the disease, rather than a side effect of antipsychotic medication. Short-term treatment with atypical antipsychotic medication resulted in a normalization of the CSF disease signature in half the patients well before a clinical improvement would be expected. Furthermore, our results suggest that the initiation of antipsychotic treatment during a first

  15. 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...

  16. Efficacy, safety, and impact on hospitalizations of paliperidone palmitate in recent-onset schizophrenia

    Directory of Open Access Journals (Sweden)

    Zhang F

    2015-03-01

    Full Text Available Fan Zhang,1 Tianmei Si,2,3 Chiun-Fang Chiou,4 Anthony WF Harris,5 Chang Yoon Kim,6 Padmashree Jahagirdar,7 Steve Ascher8 1Xian Janssen Pharmaceuticals, Beijing, People’s Republic of China; 2Department of Clinical Psychopharmacology, Peking University Institute of Mental Health, Beijing, People’s Republic of China; 3Key Laboratory of Mental Health, Ministry of Health (Peking University, Beijing, People’s Republic of China; 4Janssen Asia-Pacific, Singapore; 5Discipline of Psychiatry, Sydney Medical School, University of Sydney, Australia and Brian Dynamics Center, Westmead Millennium Institute for Medical Research, Westmead, NSW, Australia; 6Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea; 7Theorem Clinical Research, Bangalore, India; 8Janssen Research and Development, LLC, Titusville, NJ, USA Objective: To evaluate the efficacy, safety, and impact on hospitalizations of long-acting injectable paliperidone palmitate (PP treatment, in patients with recent-onset schizophrenia who had not responded satisfactorily to oral antipsychotics.Methods: In this 18-month, open-label, Phase-IIIb study from Asia-Pacific region, patients (18–50 years with recent-onset (≤5 years schizophrenia unsatisfactorily treated with previous oral antipsychotics were initiated on PP 150 mg eq on day 1, 100 mg eq on day 8, followed by flexible once monthly maintenance doses of 50–150 mg eq. The number and duration of hospitalizations were compared using a mirror analysis method between two periods: retrospective (12 months before PP initiation and prospective (12 and 18 months after PP treatment periods.Results: A total of 303 out of 521 (58% patients (mean age, 28.7 years; 65.5% men, 92.5% Asian completed the study. Positive and Negative Syndrome Scale (PANSS total score improved significantly from baseline to month 18 (mean [standard deviation, SD] change: -11.3 [21.38], P<0.0001, primary endpoint. Subgroup analysis revealed

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

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    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.

  18. Early-Onset Bipolar Spectrum Disorders: Diagnostic Issues

    Science.gov (United States)

    Danner, Stephanie; Fristad, Mary A.; Arnold, L. Eugene; Youngstrom, Eric A.; Birmaher, Boris; Horwitz, Sarah M.; Demeter, Christine; Findling, Robert L.; Kowatch, Robert A.

    2009-01-01

    Since the mid 1990s, early-onset bipolar spectrum disorders (BPSDs) have received increased attention in both the popular press and scholarly press. Rates of diagnosis of BPSD in children and adolescents have increased in inpatient, outpatient, and primary care settings. BPSDs remain difficult to diagnose, particularly in youth. The current…

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

    Science.gov (United States)

    ... called sarcomeres . Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of this protein's most ... CMD Salih congenital muscular dystrophy Salih myopathy titinopathy & early-onset myopathy with ...

  20. Early identification of 'acute-onset' chronic inflammatory demyelinating polyneuropathy.

    Science.gov (United States)

    Sung, Jia-Ying; Tani, Jowy; Park, Susanna B; Kiernan, Matthew C; Lin, Cindy Shin-Yi

    2014-08-01

    Distinguishing patients with acute-onset chronic inflammatory demyelinating polyneuropathy from acute inflammatory demyelinating polyneuropathy prior to relapse is often challenging at the onset of their clinical presentation. In the present study, nerve excitability tests were used in conjunction with the clinical phenotype and disease staging, to differentiate between patients with acute-onset chronic inflammatory demyelinating polyneuropathy and patients with acute inflammatory demyelinating polyneuropathy at an early stage, with the aim to better guide treatment. Clinical assessment, staging and nerve excitability tests were undertaken on patients initially fulfilling the diagnostic criteria of acute inflammatory demyelinating polyneuropathy soon after symptom onset and their initial presentation. Patients were subsequently followed up for minimum of 12 months to determine if their clinical presentations were more consistent with acute-onset chronic inflammatory demyelinating polyneuropathy. Clinical severity as evaluated by Medical Research Council sum score and Hughes functional grading scale were not significantly different between the two cohorts. There was no difference between the time of onset of initial symptoms and nerve excitability test assessment between the two cohorts nor were there significant differences in conventional nerve conduction study parameters. However, nerve excitability test profiles obtained from patients with acute inflammatory demyelinating polyneuropathy demonstrated abnormalities in the recovery cycle of excitability, including significantly reduced superexcitability (P chronic inflammatory demyelinating polyneuropathy, a different pattern occurred with the recovery cycle shifted downward (increased superexcitability, P inflammatory demyelinating polyneuropathy and acute-onset chronic inflammatory demyelinating polyneuropathy could be clearly separated into two non-overlapping groups. Studies of nerve excitability may be able to

  1. Association analysis of the tyrosine hydroxylase gene polymorphisms with early-onset schizophrenia in Chinese population%酪氨酸羟化酶基因多态性与早发精神分裂症的关联分析

    Institute of Scientific and Technical Information of China (English)

    吕钦谕; 马连华; 刘传军; 胡国芹; 李君; 张晨; 卢卫红; 禹顺英; 易正辉

    2014-01-01

    Objective To investigate the relationship between the tyrosine hydroxylase (TH) gene and early-onset schizophrenia in Chinese Han population.Metbods The tag single nucleotide polymorphisms (tag SNPs) rs2070762,rs6356 and rs11042978 in the TH gene were genotyped in 315 earlyonset schizophrenics (188 male patients,127 female patients) and 391 controls subjects (219 males,172 females).Single nucleotide polymorphism association and haplotype analysis were performed.Results (1) No statistically significant differences were found in allele or genotype between patients and normal controls for rs2070762 (x2 =1.12,df =1,P =0.290 ; x2 =1.75,df =2,P =0.417) and rs6356 (x2 =1.71,df=1,P =0.190 ; x2 =2.86,df =2,P =0.239).There were significant differences in allele and genotype frequencies between patients and normal control for rs11042978 allele (x2 =4.47,df =1,P =0.034) and genotype (x2 =6.35,df =2,P =0.042),but the difference did not existed after Bonferroni correction in allele frequencies (P > 0.05).(2) The analysis revealed that there were significant differences between patients and normal control subjects for haplotypes A-C-G of rs2070762-rs6356-rs11042978 (x2 =6.35,P =0.012),but the difference did not existed after Permutation test in haplotype frequencies(x2 =4.84,P =0.104).Conclusions The TH gene may not play major roles in the susceptibility to early-onset schizophrenia in Chinese population.%目的 探讨中国汉族人群酪氨酸羟化酶(tyrosine hydroxylase,TH)基因多态性与早发精神分裂症的关联性.方法 采用TaqMan荧光探针基因分型技术,检测315例早发精神分裂症患者(患者组,起病年龄<18岁)和391名健康对照(对照组)TH基因标签单核苷酸多态性rs2070762、rs6356及rs11042978 3个多态位点,并对等位基因、基因型及单体型频率进行比较.结果 (1)患者组与对照组单位点分析显示,rs2070762[x2=1.12,自由度(df)=1,P=0.290;x2 =1.75,df=2,P=0.417]及rs6356(x2=1.71,df=1,P=0.190;x2=2.86,df

  2. Schizophrenia

    Science.gov (United States)

    Schizophrenia is a serious brain illness. People who have it may hear voices that aren't there. ... job or take care of themselves. Symptoms of schizophrenia usually start between ages 16 and 30. Men ...

  3. Sex differences in TGFB-β signaling with respect to age of onset and cognitive functioning in schizophrenia

    Directory of Open Access Journals (Sweden)

    Frydecka D

    2015-03-01

    Full Text Available Dorota Frydecka,1 Błazej Misiak,1,2 Edyta Pawlak-Adamska,3 Lidia Karabon,3,4 Anna Tomkiewicz,3 Paweł Sedlaczek,5 Andrzej Kiejna,1 Jan Aleksander Beszłej1 1Department of Psychiatry, Wroclaw Medical University, Wroclaw, Poland; 2Department of Genetics, Wroclaw Medical University, Wroclaw, Poland; 3Laboratory of Immunopathology, Department of Experimental Therapy, Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wroclaw, Poland; 4Department of Clinical Urology, Wroclaw Medical University, Wroclaw, Poland; 51st Department and Clinic of Gynecology and Obstetrics, Wroclaw Medical University, Wroclaw, Poland Abstract: There are studies showing that gene polymorphisms within the transforming growth factor-β (TGF-β signaling constitute schizophrenia risk variants. However, the association between TGFB1 gene polymorphisms (+869T/C and +915G/C, TGF-β level with schizophrenia course, and its symptomatology together with cognitive functioning has not been investigated so far. We included 151 patients with schizophrenia and 279 healthy controls. Cognitive functioning was assessed using Rey Auditory Verbal Learning Test, Trail Making Test (TMT-A and TMT-B, Verbal Fluency task, Stroop test, as well as selected subtests from the Wechsler Adults Intelligence Scale – Revised, Polish adaptation (WAIS-R-Pl: Digit Symbol Coding, Digit Span Forward and Backward, and Similarities. Additionally, serum TGF-β levels were measured in 88 schizophrenia patients and 88 healthy controls. Serum TGF-β level was significantly higher among patients with schizophrenia in comparison with healthy controls; however, the studied polymorphisms were not associated with TGF-β level in schizophrenia patients. Subjects carrying the +869T allele performed significantly worse in comparison with +869CC homozygotes on Stroop task, Verbal Fluency task and Digit Symbol Coding task. There was a significant difference in age of psychosis onset in female

  4. Early-onset androgenetic alopecia and endocrine disruptors

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    M. Guarrera

    2011-01-01

    Full Text Available Androgenetic alopecia (AGA is the most common acquired non scarring alopecia in humans caused by androgen hormones in the setting of a genetic predisposition. Usually AGA starts after puberty, but recently it has been observed also in adolescents. Their mean age was 13 years with a slight prevalence in males. The premature AGA may be caused by environmental, alimentary (meat and milk or cosmetics overexposure to sexual hormones or to endocrine disrupters (EDs. EDs are "exogenous substances that interfere with the synthesis, secretion, transport, binding, action, or elimination of natural hormones in the body causing adverse effects to human health" and they are able bind to the steroid hormone receptors. Early onset AGA may be linked to the well known phenomenon of early puberty caused in some cases by hormones contained in food or by environmental chemicals. Therefore it is likely that the EDs may play a role also in the pathogenesis of early-onset AGA.

  5. Fragmented Perception : Slower Space-Based but Faster Object-Based Attention in Recent-Onset Psychosis with and without Schizophrenia

    NARCIS (Netherlands)

    Smid, Henderikus G. O. M.; Bruggeman, Richard; Martens, Sander

    2013-01-01

    Background: Schizophrenia is associated with impairments of the perception of objects, but how this affects higher cognitive functions, whether this impairment is already present after recent onset of psychosis, and whether it is specific for schizophrenia related psychosis, is not clear. We

  6. 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.

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

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    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.

  8. The evolution of insight, paranoia and depression during early schizophrenia.

    Science.gov (United States)

    Drake, R J; Pickles, A; Bentall, R P; Kinderman, P; Haddock, G; Tarrier, N; Lewis, S W

    2004-02-01

    How insight, paranoia and depression evolve in relation to each other during and after the first episode of schizophrenia is poorly understood but of clinical importance. Serial assessments over 18 months were made using multiple instruments in a consecutive sample of 257 patients with first episode DSM-IV non-affective psychosis. Repeated measures of paranoia, insight, depression and self-esteem were analysed using structural equation modelling, to examine the direction of relationships over time after controlling for confounds. Depression was predicted directly by greater insight, particularly at baseline, and by greater paranoia at every stage of follow-up. Neither relationship was mediated by self-esteem, although there was a weak association of lower self-esteem with greater depression and better insight. Paranoia was not strongly associated with insight. Duration of untreated psychosis and substance use at baseline predicted depression at 18 months. In first-episode psychosis, good insight predicts depression. Subsequently, paranoia is the strongest predictor. Neither effect is mediated by low self-esteem. Effective treatment of positive symptoms is important in preventing and treating low mood in early schizophrenia.

  9. A comparison of neuroimaging findings in childhood onset schizophrenia and autism spectrum disorder: a review of the literature

    Directory of Open Access Journals (Sweden)

    Danielle Andrea Baribeau

    2013-12-01

    Full Text Available Background: Autism spectrum disorder (ASD and childhood onset schizophrenia (COS are pediatric neurodevelopmental disorders associated with significant morbidity. Both conditions are thought to share an underlying genetic architecture. A comparison of neuroimaging findings across ASD and COS with a focus on altered neurodevelopmental trajectories can shed light on potential clinical biomarkers and may highlight an underlying etiopathogenesis. Methods: A comprehensive review of the medical literature was conducted to summarize neuroimaging data with respect to both conditions in terms of structural imaging (including volumetric analysis, cortical thickness and morphology, and region of interest studies, white matter analysis (include volumetric analysis and diffusion tensor imaging and functional connectivity. Results: In ASD, a pattern of early brain overgrowth in the first few years of life is followed by dysmaturation in adolescence. Functional analyses have suggested impaired long-range connectivity as well as increased local and/or subcortical connectivity in this condition. In COS, deficits in cerebral volume, cortical thickness, and white matter maturation seem most pronounced in childhood and adolescence, and may level off in adulthood. Deficits in local connectivity, with increased long-range connectivity have been proposed, in keeping with exaggerated cortical thinning.Conclusions: The neuroimaging literature supports a neurodevelopmental origin of both ASD and COS and provides evidence for dynamic changes in both conditions that vary across space and time in the developing brain. Looking forward, imaging studies which capture the early post natal period, which are longitudinal and prospective, and which maximize the signal to noise ratio across heterogeneous conditions will be required to translate research findings into a clinical environment.

  10. Inflammation profile of four early onset Crohn patients.

    Science.gov (United States)

    Marcuzzi, Annalisa; Girardelli, Martina; Bianco, Anna Monica; Martelossi, Stefano; Magnolato, Andrea; Tommasini, Alberto; Crovella, Sergio

    2012-02-10

    Crohn disease (CD) is a multifactorial disorder affecting mainly young adults. Sometimes, however, it can present in the first year of life (Early onset Crohn disease (EOCD)) showing an unpredictable course and can often be more severe than at older ages. Some cases have been associated to an underlying primary immunodeficiency such as IL10R deficiency. We studied the functional response to IL-10 and the genotype of IL-10 receptor in four patients with early onset crohn-like colitis. We found an IL10R variant, which may be associated with a decreased response to the cytokine in one patient. Further studies to determine its pathogenic effect should be performed. In addition IL-10 mediated inhibition of LPS-induced TNFα expression was measured in patient's monocytes.

  11. Risk Assessment in Neonatal Early-Onset Sepsis

    Science.gov (United States)

    Mukhopadhyay, Sagori; Puopolo, Karen M.

    2013-01-01

    The incidence of neonatal early-onset sepsis has declined with the widespread use of intrapartum antibiotic therapies, yet early-onset sepsis remains a potentially fatal condition, particularly among very low-birth weight infants. Clinical signs of neonatal infection are non-specific and may be absent in the immediate postnatal period. Maternal and infant clinical characteristics, as well as infant laboratory values, have been used to identify newborns at risk, and to administer empiric antibiotic therapy to prevent progression to more severe illness. Such approaches result in the evaluation of approximately 15% of asymptomatic term and late preterm infants and of nearly all preterm infants. The development of multivariate predictive models may provide more accurate methods of identifying newborns at highest risk and allow for more limited newborn antibiotic exposures. PMID:23177799

  12. Familial early onset sarcoidosis with bone cysts and erosions

    Energy Technology Data Exchange (ETDEWEB)

    Blank, Norbert; Max, Regina; Lorenz, Hanns-Martin [University of Heidelberg, Department of Internal Medicine V, Division of Rheumatology, Heidelberg (Germany); Autschbach, Frank [University of Heidelberg, Department of Pathology, Heidelberg (Germany); Libicher, Martin [University of Cologne, Department of Radiology, Cologne (Germany)

    2007-09-15

    Early onset sarcoidosis is a granulomatous disease which is characterized by synovitis, polyarthritis, skin and eye involvement. We report the skeletal features of one patient with a family history and clinical symptoms suggestive of early onset sarcoidosis (EOS) which was confirmed by skin biopsy. Radiographs reveal postarthritic deformities of the MCP joints, contractures, a coarsened trabecular pattern at the PIP joints and small bone cysts resembling osteitis cystoides multiplex. Similar lesions were described in radiographs of the older sister and an uncle of our patient. This is the first report demonstrating bone cysts and erosions which could be a diagnostic feature in this rare disease and may help to differentiate other rheumatoid disorders. (orig.)

  13. 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.

  14. Stiff-person syndrome with early onset in infancy

    Directory of Open Access Journals (Sweden)

    S. A. Malmberg

    2015-01-01

    Full Text Available The case of stiff-person syndrome with benign course in 16-years old patient is presented. The initial clinical signs of the disease were observed in infancy with retarded development of motor functions and skeleton muscle lumps. The diagnosis was made using generally accepted clinical and electromyographical criteria. Aspects of differential diagnosis, pathogenesis and clinical course polymorphism in early-onset cases of the disease are discussed.

  15. Walking strategies in subjects with congenital or early onset strabismus

    OpenAIRE

    Irene eAprile; Maurizio eFerrarin; Luca ePadua; Enrica eDi Sipio; Chiara eSimbolotti; Sergio ePetroni; Costanza eTredici; Anna eDickmann

    2014-01-01

    Introduction: In congenital strabismus, sensory adaptations occur hampering the correct development of normal binocular vision. The aim of this study is to investigate if patients with congenital or early onset exotropic or esotropic strabismus adopt different walking strategies with respect to healthy subjects. Our hypothesis is that the abnormal binocular cooperation, occurring in patients with exotropic or esotropic strabismus, could influence neurosensorial adaptation of the gait pattern....

  16. Abnormal early brain responses during visual search are evident in schizophrenia but not bipolar affective disorder.

    Science.gov (United States)

    VanMeerten, Nicolaas J; Dubke, Rachel E; Stanwyck, John J; Kang, Seung Suk; Sponheim, Scott R

    2016-01-01

    People with schizophrenia show deficits in processing visual stimuli but neural abnormalities underlying the deficits are unclear and it is unknown whether such functional brain abnormalities are present in other severe mental disorders or in individuals who carry genetic liability for schizophrenia. To better characterize brain responses underlying visual search deficits and test their specificity to schizophrenia we gathered behavioral and electrophysiological responses during visual search (i.e., Span of Apprehension [SOA] task) from 38 people with schizophrenia, 31 people with bipolar disorder, 58 biological relatives of people with schizophrenia, 37 biological relatives of people with bipolar disorder, and 65 non-psychiatric control participants. Through subtracting neural responses associated with purely sensory aspects of the stimuli we found that people with schizophrenia exhibited reduced early posterior task-related neural responses (i.e., Span Endogenous Negativity [SEN]) while other groups showed normative responses. People with schizophrenia exhibited longer reaction times than controls during visual search but nearly identical accuracy. Those individuals with schizophrenia who had larger SENs performed more efficiently (i.e., shorter reaction times) on the SOA task suggesting that modulation of early visual cortical responses facilitated their visual search. People with schizophrenia also exhibited a diminished P300 response compared to other groups. Unaffected first-degree relatives of people with bipolar disorder and schizophrenia showed an amplified N1 response over posterior brain regions in comparison to other groups. Diminished early posterior brain responses are associated with impaired visual search in schizophrenia and appear to be specifically associated with the neuropathology of schizophrenia. Published by Elsevier B.V.

  17. BDNF val66met polymorphism is associated with age at onset and intensity of symptoms of paranoid schizophrenia in a Polish population.

    Science.gov (United States)

    Suchanek, Renata; Owczarek, Aleksander; Paul-Samojedny, Monika; Kowalczyk, Małgorzata; Kucia, Krzysztof; Kowalski, Jan

    2013-01-01

    The brain-derived neurotrophic factor (BDNF) is one of the candidate genes for schizophrenia. There is evidence that val66met polymorphism may be involved in the pathophysiology of schizophrenia. The authors genotyped val66met (rs6265) polymorphism of the BDNF gene in 208 inpatients with paranoid schizophrenia and 254 control subjects in a Polish population. There was no association between val66met polymorphism and development of paranoid schizophrenia in either men or women. However, an association was found between this polymorphism and age at onset and psychopathology of paranoid schizophrenia. Men with the val/met genotype had an earlier age at onset, and the val/val genotype predisposed to more severe symptoms, particularly on the General Psychopathology Scale of the Positive and Negative Symptoms Scale (PANSS-G). The analysis of PANSS single items has shown that patients with the val/met genotype had higher scores on a hallucinatory behavior item than those with other genotypes.

  18. Facial emotion identification in early-onset and first-episode psychosis: a systematic review with meta-analysis.

    Science.gov (United States)

    Barkl, Sophie J; Lah, Suncica; Harris, Anthony W F; Williams, Leanne M

    2014-10-01

    Patients with chronic schizophrenia are characterized by deficits in identifying facial expressions of emotion, and these deficits relate to impaired social and occupational function. It is not yet known if these deficits are trait-like and present at the onset of psychosis, preceding a subsequent diagnosis of schizophrenia. Our objective was to systematically review and analyze the extant literature to assess if there is a consistent profile of emotion identification problems in early-onset and first-episode psychosis. We conducted a systematic review and meta-analysis of 12 peer-reviewed studies of facial emotion identification in early-onset and first-episode psychosis, published between 1980 and March 2013. We examined the average mean difference between patients and controls on measures of facial emotion identification. Findings suggest that patients with early-onset and first-episode psychosis have impairment in identifying facial expressions of biologically salient emotion. Across the 12 studies, the onset of psychosis was distinguished by a generalized effect of significantly poorer accuracy for identifying facial expressions of emotion than healthy controls, and this difference had a substantial effect size (d=-0.88, N=378, 95% CI=-1.42 to -0.32). Within this general effect some emotions were also harder for patients to identify than others, with the magnitude of impairment found to be (i) large for disgust, fear and surprise, and (ii) medium for sadness, and happiness. No between groups mean differences were found for anger or neutral facial expressions. Deficits in facial emotion identification are evident at first onset of a psychotic episode. The findings suggest that, over and above a generalized deficit in identifying facial emotion, patients may find some emotions harder to identifying than others. This reflects findings with chronic schizophrenia populations and suggests that emotion identification impairment represents a trait susceptibility

  19. Outcome and risk factors of early onset severe preeclampsia

    Institute of Scientific and Technical Information of China (English)

    GONG Yun-hui; JIA Jin; L(U) Dong-hao; DAI Li; BAI Yi; ZHOU Rong

    2012-01-01

    Background Early onset severe preeclampsia is a specific type of severe preeclampsia,which causes high morbidity and mortality of both mothers and fetus.This study aimed to investigate the clinical definition,features,treatment,outcome and risk factors of early onset severe preaclampsia in Chinese women.üMethods Four hundred and thirteen women with severe preeclampsia from June 2006 to June 2009 were divided into three groups according to the gestational age at the onset of preeclampsia as follows:group A (less than 32 weeks,73 cases),group B (between 32 and 34 weeks,71 cases),and group C (greater than 34 weeks,269 cases).The demographic characteristics of the subjects,complications,delivery modes and outcome of pregnancy were analyzed retrospectively.üResults The systolic blood pressure at admission and the incidence of severe complications were significantly lower in group C than those in groups A and B,prolonged gestational weeks and days of hospitalization were significantly shorter in group C than those in groups A and B.Liver and kidney dysfunction,pleural and peritoneal effusion,placental abruption and postpartum hemorrhage were more likely to occur in group A compared with the other two groups.Twenty-four-hour urine protein levels at admission,intrauterine fetal death and days of hospitalization were risk factors that affected complications of severe preeclampsia.Gestational week at admission and delivery week were also risk factors that affected perinatal outcome.Conclusions Early onset severe preeclampsia should be defined as occurring before 34 weeks,and it is featured by more maternal complications and a worse perinatal prognosis compared with that defined as occurring after 34 weeks.Independent risk factors should be used to tailor the optimized individual treatment plan,to balance both maternal and neonatal safety.

  20. Non-Therapeutic Risk Factors for Onset of Tardive Dyskinesia in Schizophrenia : A Meta-Analysis

    NARCIS (Netherlands)

    Tenback, Diederik E.; van Harten, Peter N.; van Os, Jim

    2009-01-01

    A meta-analysis of prospective studies with schizophrenia patients was conducted to examine whether the evidence exists for risk factors for the emergence of Tardive Dyskinesia (TD) in schizophrenia. A computer assisted Medline/PubMed and Embase search was' conducted in January 2008 for the years 19

  1. Disrupted modularity and local connectivity of brain functional networks in childhood-onset schizophrenia

    Directory of Open Access Journals (Sweden)

    Aaron F Alexander-Bloch

    2010-10-01

    Full Text Available Modularity is a fundamental concept in systems neuroscience, referring to the formation of local cliques or modules of densely intra-connected nodes that are sparsely inter-connected with nodes in other modules. Topological modularity of brain functional networks can quantify theoretically anticipated abnormality of brain network community structure--so called dysmodularity--in developmental disorders such as childhood-onset schizophrenia (COS. We used graph theory to investigate topology of networks derived from resting-state fMRI data on 13 COS patients and 19 healthy volunteers. We measured functional connectivity between each pair of 100 regional nodes, focusing on wavelet correlation in the frequency interval 0.05-0.1 Hz, then applied global and local thresholding rules to construct graphs from each individual association matrix over the full range of possible connection densities. We show how local thresholding based on the minimum spanning tree facilitates group comparisons of networks by forcing the connectedness of sparse graphs. Threshold-dependent graph theoretical results are compatible with the results of a k-means unsupervised learning algorithm and a multi-resolution (spin glass approach to modularity, both of which also find community structure but do not require thresholding of the association matrix. In general modularity of brain functional networks was significantly reduced in COS, due to a relatively reduced density of intra-modular connections between neighboring regions. Other network measures of local organization such as clustering were also decreased, while complementary measures of global efficiency and robustness were increased, in the COS group. The group differences in complex network properties were mirrored by differences in simpler statistical properties of the data, such as the variability of the global time series and the internal homogeneity of the time series within anatomical regions of interest.

  2. Schizophrenia

    Science.gov (United States)

    ... what causes it. Genes may play a role. Schizophrenia occurs in just as many men as women. It usually begins in the teen or young ... but it may begin later in life. In women, it tends to begin later ... Schizophrenia in children usually begins after age 5. Childhood ...

  3. Schizophrenia

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    2008355 Efficacy and safety of aripiprazole in the treatment of schizophrenia: a randomized, double-blind, risperidone controlled, multicenter study. YAN Jun(闫俊), et al. Instit Mental Health, Peking Univ, Beijing 100083. Chin J Psychiat 2008;41(2):81-84.Objective To evaluate the efficacy and safety of aripiprazole in treating acute exacerbation of schizophrenia.

  4. [46-OR] : Early and late onset preeclampsia versus small for gestational age risks in subsequent pregnancies

    NARCIS (Netherlands)

    Bernardes, Thomas P; Mol, Ben W; Ravelli, Anita C; van den Berg, Paul P; Stolk, Ronald P; Groen, Henk

    OBJECTIVES: Current literature suggests that early and late onset preeclampsia should be treated as distinct entities and that early onset preeclampsia shares pathophysiology aspects with intrauterine growth restriction. Our objective was to investigate whether 5th percentile small for gestational

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

    Science.gov (United States)

    ... myopathy with early-onset Paget disease and frontotemporal dementia Enable Javascript to view the expand/collapse boxes. ... myopathy with early-onset Paget disease and frontotemporal dementia ( IBMPFD ) is a condition that can affect the ...

  6. Schizophrenia Delays and Alters Maturation of the Brain in Adolescence

    Science.gov (United States)

    Douaud, Gwenaelle; Mackay, Clare; Andersson, Jesper; James, Susan; Quested, Digby; Ray, Manaan Kar; Connell, Julie; Roberts, Neil; Crow, Timothy J.; Matthews, Paul M.; Smith, Stephen; James, Anthony

    2009-01-01

    Early-onset schizophrenia appears to be clinically more severe than the adult-onset form of the disease. In a previous study, we showed that anatomically related grey and white matter abnormalities found in adolescents patients were larger and more widespread than what had been reported in the literature on adult schizophrenia. Particularly, we…

  7. Successful Scene Encoding in Presymptomatic Early-Onset Alzheimer's Disease.

    Science.gov (United States)

    Quiroz, Yakeel T; Willment, Kim Celone; Castrillon, Gabriel; Muniz, Martha; Lopera, Francisco; Budson, Andrew; Stern, Chantal E

    2015-01-01

    Brain regions critical to episodic memory are altered during the preclinical stages of Alzheimer's disease (AD). However, reliable means of identifying cognitively-normal individuals at higher risk to develop AD have not been established. To examine whether functional MRI can detect early functional changes associated with scene encoding in a group of presymptomatic presenilin-1 (PSEN1) E280A mutation carriers. Participants were 39 young, cognitively-normal individuals from an autosomal dominant early-onset AD kindred, located in Antioquia, Colombia. Participants performed a functional MRI scene encoding task and a post-scan subsequent memory test. PSEN1 mutation carriers exhibited hyperactivation within medial temporal lobe regions (hippocampus,parahippocampal formation) during successful scene encoding compared to age-matched non-carriers. Hyperactivation in medial temporal lobe regions during scene encoding is seen in individuals genetically-determined to develop AD years before their clinical onset. Our findings will guide future research with the ultimate goal of using functional neuroimaging in the early detection of preclinical AD.

  8. Early Onset of Selective Serotonin Reuptake Inhibitor Antidepressant Action

    Science.gov (United States)

    Taylor, Matthew J.; Freemantle, Nick; Geddes, John R.; Bhagwagar, Zubin

    2008-01-01

    Context: Selective serotonin reuptake inhibitors (SSRIs) are often described as having a delayed onset of effect in the treatment of depression. However, some trials have reported clinical improvement as early as the first week of treatment. Objective: To test the alternative hypotheses of delayed vs early onset of antidepressant action with SSRIs in patients with unipolar depression. Data Sources: Trials identified by searching CENTRAL, The Cochrane Collaboration database of controlled trials (2005), and the reference lists of identified trials and other systematic reviews. Study Selection: Randomized controlled trials of SSRIs vs placebo for the treatment of unipolar depression in adults that reported outcomes for at least 2 time points in the first 4 weeks of treatment (50 trials from >500 citations identified). Trials were excluded if limited to participants older than 65 years or specific comorbidities. Data Extraction: Data were extracted on trial design, participant characteristics, and outcomes by a single reviewer. Data Synthesis: Pooled estimates of treatment effect on depressive symptom rating scales were calculated for weeks 1 through 6 of treatment. In the primary analysis, the pattern of response seen was tested against alternative models of onset of response. The primary analysis incorporated data from 28 randomized controlled trials (n=5872). A model of early treatment response best fit the experimental data. Treatment with SSRIs rather than placebo was associated with clinical improvement by the end of the first week of use. A secondary analysis indicated an increased chance of achieving a 50% reduction in Hamilton Depression Rating Scale scores by 1 week (relative risk, 1.64; 95% confidence interval, 1.2-2.25) with SSRI treatment compared with placebo. Conclusions: Treatment with SSRIs is associated with symptomatic improvement in depression by the end of the first week of use, and the improvement continues at a decreasing rate for at least 6

  9. Early Infections of Toxoplasma gondii and the Later Development of Schizophrenia

    DEFF Research Database (Denmark)

    Mortensen, Preben Bo; Nørgaard-Pedersen, Bent; Waltoft, Berit Lindum

    2007-01-01

    Early exposure to several infectious agents has been associated with the later development of schizophrenia. Two recent studies assessed in utero or early postnatal exposure to Toxoplasma gondii. In one study of 63 individuals, who developed schizophrenia spectrum disorders, maternal sera obtaine...... are at present speculative but include possible direct effects of maternal IgG on the developing central nervous system (CNS) of the offspring. Additional studies are underway...

  10. 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

  11. Early-onset sarcoidosis mimicking refractory cutaneous histiocytosis.

    Science.gov (United States)

    Ohga, Shouichi; Ichino, Kiyomi; Urabe, Kazunori; Ishimura, Masataka; Takada, Hidetoshi; Nishikomori, Ryuta; Furue, Masutaka; Hara, Toshiro

    2008-03-01

    A 10-year-old female was diagnosed as having early-onset sarcoidosis (EOS) after a prolonged skin disease. A granuloma emerged on the face at age 2 and massive lesions extended to the rest of the body. Repeated biopsies indicated histiocytic proliferation. At age 7, fever, disseminated macular eruptions, and multinucleated giant cells in the bone marrow prompted vinblastine and prednisolone therapy. Five months after stopping therapy, hypercalcemic crisis occurred along with fever, cytopenias, and interferon-gamma-nemia indicating a macrophage activation syndrome. A biopsy of nodules confirmed the diagnosis of sarcoidosis. The atypical EOS should be differentiated from histiocytosis.

  12. Early onset neonatal sepsis: diagnostic dilemmas and practical management.

    Science.gov (United States)

    Bedford Russell, A R; Kumar, R

    2015-07-01

    Early onset neonatal sepsis is persistently associated with poor outcomes, and incites clinical practice based on the fear of missing a treatable infection in a timely fashion. Unnecessary exposure to antibiotics is also hazardous. Diagnostic dilemmas are discussed in this review, and suggestions offered for practical management while awaiting a more rapidly available 'gold standard' test; in an ideal world, this test would be 100% sensitive and 100% specific for the presence of organisms. 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.

  13. 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.

  14. Susceptibility genetic variants associated with early-onset colorectal cancer.

    Science.gov (United States)

    Giráldez, María Dolores; López-Dóriga, Adriana; Bujanda, Luis; Abulí, Anna; Bessa, Xavier; Fernández-Rozadilla, Ceres; Muñoz, Jenifer; Cuatrecasas, Miriam; Jover, Rodrigo; Xicola, Rosa M; Llor, Xavier; Piqué, Josep M; Carracedo, Angel; Ruiz-Ponte, Clara; Cosme, Angel; Enríquez-Navascués, José María; Moreno, Victor; Andreu, Montserrat; Castells, Antoni; Balaguer, Francesc; Castellví-Bel, Sergi

    2012-03-01

    Colorectal cancer (CRC) is the second most common cancer in Western countries. Hereditary forms only correspond to 5% of CRC burden. Recently, genome-wide association studies have identified common low-penetrant CRC genetic susceptibility loci. Early-onset CRC (CRC65 years old) (n = 1264). CRC susceptibility variants at 8q23.3 (rs16892766), 8q24.21 (rs6983267), 10p14 (rs10795668), 11q23.1 (rs3802842), 15q13.3 (rs4779584), 18q21 (rs4939827), 14q22.2 (rs4444235), 16q22.1 (rs9929218), 19q13.1 (rs10411210) and 20p12.3 (rs961253) were genotyped in all DNA samples. A genotype-phenotype correlation with clinical and pathological characteristics in both groups was performed. Risk allele carriers for rs3802842 [Odds ratio (OR) = 1.5, 95% confidence interval (CI) 1.1-2.05, P = 0.0096, dominant model) and rs4779584 (OR = 1.39, 95% CI 1.02-1.9, P = 0.0396, dominant model) were more frequent in the CRC<50 group, whereas homozygotes for rs10795668 risk allele were also more frequent in the early-onset CRC (P = 0.02, codominant model). Regarding early-onset cases, 14q22 (rs4444235), 11q23 (rs3802842) and 20p12 (rs961253) variants were more associated with family history of CRC or tumors of the Lynch syndrome spectrum excluding CRC. In our entire cohort, sum of risk alleles was significantly higher in patients with a CRC family history (OR = 1.40, 95% CI 1.06-1.85, P = 0.01). In conclusion, variants at 10p14 (rs10795668), 11q23.1 (rs3802842) and 15q13.3 (rs4779584) may have a predominant role in predisposition to early-onset CRC. Association of CRC susceptibility variants with some patient's familiar and personal features could be relevant for screening and surveillance strategies in this high-risk group and it should be explored in further studies.

  15. Viral metagenomics in drug-naïve, first-onset schizophrenia patients with prominent negative symptoms.

    Science.gov (United States)

    Canuti, Marta; van Beveren, Nico J M; Jazaeri Farsani, Seyed Mohammad; de Vries, Michel; Deijs, Martin; Jebbink, Maarten F; Zaaijer, Hans L; van Schaik, Barbera D C; van Kampen, Antoine H C; van der Kuyl, Antoinette C; de Haan, Lieuwe; Storosum, Jitschak G; van der Hoek, Lia

    2015-10-30

    Although several studies suggest a virus or (endogenous) retrovirus involvement at the time of onset of schizophrenia, the unequivocal identification of one or more infectious agents, by means of an undirected catch-all technique, has never been conducted. In this study VIDISCA, a virus discovery method, was used in combination with Roche-454 high-throughput sequencing as a tool to determine the possible presence of viruses (known or unknown) in blood of first-onset drugs-naïve schizophrenic patients with prominent negative symptoms. Two viruses (the Anellovirus Torque Teno virus and GB virus C) were detected. Both viruses are commonly found in healthy individuals and no clear link with disease was ever established. Viruses from the family Anelloviridae were also identified in the control population (4.8%). Besides, one patient sample was positive for human endogenous retroviruses type K (HML-2) RNA but no specific predominant strain was detected, instead 119 different variants were found. In conclusion, these findings indicate no evidence for viral or endogenous retroviral involvement in sera at the time of onset of schizophrenia.

  16. A case study of informal learning in the family associated with very-late-onset of Schizophrenia in female

    OpenAIRE

    Borowska-Beszta, Beata

    2014-01-01

    Family is a place of development and informal lifelong learning also in situations of crises, associated with illness or disability of its members. This study is non-clinical, ethno-educational case study of informal learning in Polish family supporting older female, who at age of 76 was diagnosed as having very-late-onset of schizophrenia. Case study I was based on the research no: 195/FES titled "Traces of disability in Polish culture". The field project lasted 13 months, from the b...

  17. A Case Study of Informal Learning in the Family associated with Very-Late-Onset of Schizophrenia in Female

    OpenAIRE

    Borowska-Beszta, Beata

    2014-01-01

    Family is a place of development and informal lifelong learning also in situations of crises, associated with illness or disability of its members. This study is non-clinical, ethno-educational case study of informal learning in Polish family supporting older female, who at age of 76 was diagnosed as having very-late-onset of schizophrenia. Case study I was based on the research no: 195/FES titled "Traces of disability in Polish culture". The field project lasted 13 months, from the beg...

  18. 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.

  19. A comparison study of early non-psychotic deviant behavior in Afrikaner and US patients with schizophrenia or schizoaffective disorder.

    Science.gov (United States)

    Sobin, Christina; Roos, J Louw; Pretorius, Herman; Lundy, Laura S; Karayiorgou, Maria

    2003-02-15

    In a previous study early non-psychotic deviant behaviors in US adult schizophrenic patients recruited for a large-scale genetic study were examined (Psychiatry Research, 101, 101). Early deviance characterized a distinct subgroup of patients at rates that were consistent with earlier reports. In addition, specific early non-psychotic deviant behaviors were meaningfully associated with later disease outcomes. In the present study, we examined the demographic, syndrome course, symptom and early deviant behavior history of 109 Afrikaner probands who met criteria for DSM schizophrenia or schizoaffective disorder, and compared them to 109 age- and gender-matched US probands. Consistent with past findings, 68% of Afrikaner probands, as compared to 67% of age- and gender-matched US probands, reported one or more forms of early non-psychotic deviance, including poor socialization, extreme fears/chronic sadness, and/or attention/learning impairment. The remaining 32 and 33% of probands, respectively, were without behavioral deviance until the onset of schizophrenia or schizoaffective disorder. The frequency and distribution of individual deviant behaviors were strikingly consistent between the samples. However, logistic regression analyses revealed different patterns of associations between the early deviant behaviors manifested and disease outcome. Afrikaner participants with early fears/chronic sadness were 3 times more likely to attempt suicide, while among US participants, this form of early deviance conferred 3.5 times more risk for later schizoaffective disorder, and 3 times greater likelihood of later sensory (tactile and/or olfactory) hallucinations. Afrikaner participants with attention/learning impairment were 2.5 times more likely to experience later auditory hallucinations, while US participants with these early difficulties were 3 times more likely to experience thought disorder. We concluded that early non-psychotic childhood deviance in this independently

  20. HDAC1 links early life stress to schizophrenia-like phenotypes.

    Science.gov (United States)

    Bahari-Javan, Sanaz; Varbanov, Hristo; Halder, Rashi; Benito, Eva; Kaurani, Lalit; Burkhardt, Susanne; Anderson-Schmidt, Heike; Anghelescu, Ion; Budde, Monika; Stilling, Roman M; Costa, Joan; Medina, Juan; Dietrich, Detlef E; Figge, Christian; Folkerts, Here; Gade, Katrin; Heilbronner, Urs; Koller, Manfred; Konrad, Carsten; Nussbeck, Sara Y; Scherk, Harald; Spitzer, Carsten; Stierl, Sebastian; Stöckel, Judith; Thiel, Andreas; von Hagen, Martin; Zimmermann, Jörg; Zitzelsberger, Antje; Schulz, Sybille; Schmitt, Andrea; Delalle, Ivana; Falkai, Peter; Schulze, Thomas G; Dityatev, Alexander; Sananbenesi, Farahnaz; Fischer, André

    2017-06-06

    Schizophrenia is a devastating disease that arises on the background of genetic predisposition and environmental risk factors, such as early life stress (ELS). In this study, we show that ELS-induced schizophrenia-like phenotypes in mice correlate with a widespread increase of histone-deacetylase 1 (Hdac1) expression that is linked to altered DNA methylation. Hdac1 overexpression in neurons of the medial prefrontal cortex, but not in the dorsal or ventral hippocampus, mimics schizophrenia-like phenotypes induced by ELS. Systemic administration of an HDAC inhibitor rescues the detrimental effects of ELS when applied after the manifestation of disease phenotypes. In addition to the hippocampus and prefrontal cortex, mice subjected to ELS exhibit increased Hdac1 expression in blood. Moreover, Hdac1 levels are increased in blood samples from patients with schizophrenia who had encountered ELS, compared with patients without ELS experience. Our data suggest that HDAC1 inhibition should be considered as a therapeutic approach to treat schizophrenia.

  1. Cortical gamma generators suggest abnormal auditory circuitry in early-onset psychosis.

    Science.gov (United States)

    Wilson, Tony W; Hernandez, Olivia O; Asherin, Ryan M; Teale, Peter D; Reite, Martin L; Rojas, Donald C

    2008-02-01

    Neurobiological theories of schizophrenia and related psychoses have increasingly emphasized impaired neuronal coordination (i.e., dysfunctional connectivity) as central to the pathophysiology. Although neuroimaging evidence has mostly corroborated these accounts, the basic mechanism(s) of reduced functional connectivity remains elusive. In this study, we examine the developmental trajectory and underlying mechanism(s) of dysfunctional connectivity by using gamma oscillatory power as an index of local and long-range circuit integrity. An early-onset psychosis group and a matched cohort of typically developing adolescents listened to monaurally presented click-trains, as whole-head magnetoencephalography data were acquired. Consistent with previous work, gamma-band power was significantly higher in right auditory cortices across groups and conditions. However, patients exhibited significantly reduced overall gamma power relative to controls, and showed a reduced ear-of-stimulation effect indicating that ipsi- versus contralateral presentation had less impact on hemispheric power. Gamma-frequency oscillations are thought to be dependent on gamma-aminobutyric acidergic interneuronal networks, thus these patients' impairment in generating and/or maintaining such activity may indicate that local circuit integrity is at least partially compromised early in the disease process. In addition, patients also showed abnormality in long-range networks (i.e., ear-of-stimulation effects) potentially suggesting that multiple stages along auditory pathways contribute to connectivity aberrations found in patients with psychosis.

  2. Early onset intellectual disability in chromosome 22q11.2 deletion syndrome.

    Science.gov (United States)

    Cascella, Marco; Muzio, Maria Rosaria

    2015-01-01

    Chromosome 22q11.2 deletion syndrome, or DiGeorge syndrome, or velocardiofacial syndrome, is one of the most common multiple anomaly syndromes in humans. This syndrome is commonly caused by a microdelection from chromosome 22 at band q11.2. Although this genetic disorder may reflect several clinical abnormalities and different degrees of organ commitment, the clinical features that have driven the greatest amount of attention are behavioral and developmental features, because individuals with 22q11.2 deletion syndrome have a 30-fold risk of developing schizophrenia. There are differing opinions about the cognitive development, and commonly a cognitive decline rather than an early onset intellectual disability has been observed. We report a case of 22q11.2 deletion syndrome with both early assessment of mild intellectual disabilities and tetralogy of Fallot as the only physic manifestation. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  3. Schizophrenia and delusional disorders with onset in later life Esquizofrenia e transtornos delirantes com início na terceira idade

    Directory of Open Access Journals (Sweden)

    Anne Hassett

    2002-04-01

    Full Text Available Schizophrenia-spectrum illness is most commonly associated with an onset in early adulthood. When non-affective psychotic symptoms emerge for the first time in later life, the clinical presentation has both similarities and differences with earlier-onset syndromes. This situation has resulted in continuing debate about the nosological status of late-onset psychosis, and whether there are particular risk factors associated with this late-life peak in incidence. Although early cognitive decline is frequently identified in these patients, studies, to date, have not established if there is a relationship with the dementing illnesses of old age. Sensory impairment, social isolation, and a family history of schizophrenia have been associated with late-onset psychosis, but appear to exert a nonspecific influence on vulnerability. While diagnostic issues remain unresolved, clinicians need to formulate treatment strategies that most appropriately address the constellation of symptoms in the clinical presentation of their psychotic elderly patients.Transtornos mentais do espectro da esquizofrenia são comumente associados a início na primeira fase da vida adulta. Quando sintomas psicóticos não-afetivos emergem pela primeira vez em fases tardias da vida, a apresentação clínica tem semelhanças e diferenças em relação às síndromes de início precoce. Essa situação resultou em debate contínuo sobre o status nosológico da psicose de início tardio e sobre se há fatores de risco associados a esse pico de incidência na terceira idade. Embora déficits cognitivos precoces sejam freqüentemente identificados entre esses pacientes, ainda não foi possível estabelecer se problemas cognitivos estão associados a um quadro demencial dos idosos. Comprometimento sensorial, isolamento social e história familiar de esquizofrenia têm sido associados à psicose de início tardio, mas esses fatores de risco parecem exercer um papel não-específico sobre

  4. Finger patterns and age of onset for the determination of the parent-of-origin in the transmission of schizophrenia

    Science.gov (United States)

    Ponnudurai, R.; Jayakar, J.

    2015-01-01

    Summary: Dermatoglyphic traits which are reported to be largely determined by genes could be considered as phenotypic characterestics and if the same are expressed through generations in schizophrenic families it can be speculated to serve as genetic markers for schizophrenia. Another factor that might be influenced by genes is the age of onset of the illness in the offspring and the parent of origin. Objective: This study was aimed to elucidate the occurrence of identical finger patterns in the schizophrenic patients and their affected parents. The other objective was to assess the age of onset of the illness in them. Methods: Forty six schizophrenic patients in whom one of the parents was also affected with schizophrenia or related disorders were recruited. Of these pairs 29 were taken up for finger patterns analysis, with an equal number of control group pairs. 35 proband and parent pairs were investigated for the age of onset of the illness. Results: The frequency of occurrence of identical patterns in the right thumbs of proband and their affected mother pairs was significantly more than between the proband and their affected father pairs. Additionally, the number of identical patterns was also more in the right thumbs of proband and their affected mother pairs compared with the control group. The difference between the mean age of onset of the illness in the probands and their affected fathers was more than between the probands and their affected mothers. Conclusion: The genetic association of schizophrenic patients with the affected maternal side appear to be more stronger than with the paternal side. PMID:25657454

  5. Early onset of fesoterodine efficacy in subjects with overactive bladder.

    Science.gov (United States)

    Goldman, Howard B; Morrow, Jon D; Gong, Jason; Tseng, Li-Jung; Schneider, Tim

    2011-02-01

    To assess the onset of efficacy of fesoterodine 4 mg once daily on overactive bladder (OAB) symptoms after 1 week of treatment. This was a prespecified analysis of data collected during the first week of a 12-week, open-label, single-arm, flexible-dose study of fesoterodine. Eligible subjects were adult men and women (aged ≥ 18 years) who reported urinary frequency (eight or more micturitions per 24 h) and urgency (three or more episodes per 24 h) in 5-day bladder diaries at baseline, and dissatisfaction with previous tolterodine or tolterodine extended-release treatment received within 2 years of screening. All subjects received fesoterodine 4 mg once daily during the first 4 weeks of treatment (with an optional dose increase to fesoterodine 8 mg after week 4). Early onset of efficacy of fesoterodine 4 mg was assessed based on changes from baseline to week 1 in variables recorded in 5-day bladder diaries, including total micturitions, urgency episodes, urgency urinary incontinence (UUI) episodes and nocturnal micturitions. Urgency and severe urgency episodes were defined as those rated ≥ 3 and ≥ 4, respectively, on the five-point Urinary Sensation Scale (USS) (1 = no urgency, 5 = UUI); frequency-urgency sum (a combined measure of micturition frequency and urgency) was defined as the sum of all USS ratings. All bladder diary variables, including total and nocturnal micturitions, UUI episodes, urgency episodes, severe urgency episodes and frequency-urgency sum per 24 h, were significantly improved (all P fesoterodine 4 mg compared to baseline. The diary-dry rate at week 1 (i.e. subjects with at least one UUI episode at baseline who subsequently reported no UUI episodes on week 1 diary) was 38%. In this open-label study of subjects with OAB who had been previously treated and dissatisfied with tolterodine, fesoterodine 4 mg showed a rapid onset of efficacy at 1 week. © 2010 THE AUTHORS. JOURNAL COMPILATION © 2010 BJU INTERNATIONAL.

  6. Aberrant high-frequency desynchronization of cerebellar cortices in early-onset psychosis.

    Science.gov (United States)

    Wilson, Tony W; Slason, Erin; Hernandez, Olivia O; Asherin, Ryan; Reite, Martin L; Teale, Peter D; Rojas, Donald C

    2009-10-30

    Sensorimotor integration deficits are routinely observed in both schizophreniform and mood-disordered psychoses. Neurobiological theories of schizophrenia and related psychoses have proposed that aberrations in large-scale cortico-thalamic-cerebellar-thalamic-cortical loops may underlie integration abnormalities, and that such dysfunctional connectivity may be central to the pathophysiology. In this study, we utilized a basic mechanoreception task to probe cortical-cerebellar circuitry in early-onset psychosis. Ten adolescents with psychosis and 10 controls completed unilateral tactile stimulation of the right and left index finger, as whole-head magnetoencephalography (MEG) data were acquired. MEG data were imaged in the frequency domain, using spatial filtering, and the resulting event-related synchronizations and desynchronizations (ERS/ERD) were subjected to voxel-wise analyses of group and task effects using statistical parametric mapping. Our results indicated bilateral ERD activation of cerebellar regions and postcentral gyri in both groups during stimulation of either hand. Interestingly, during left finger stimulations, adolescents with psychosis exhibited greater alpha and gamma ERD activity in right cerebellar cortices relative to controls. Subjects with psychosis also showed greater ERD in bilateral cerebellum and the right postcentral gyrus during right finger stimulation, and these differences were statistically stronger for higher frequency bins. Lastly, controls exhibited greater alpha ERS of the right postcentral gyrus during right finger stimulation. These findings provide new data on the neurodevelopmental trajectory of basic mechanoreception in adolescents, and also indicate aberrant cerebellar functioning in early-onset psychoses, especially in the right cerebellum, which may be the crucial dysfunctional node in cortico-thalamic-cerebellar-thalamic-cortical circuits.

  7. Early Onset Recurrent Subtype of Adolescent Depression: Clinical and Psychosocial Correlates

    Science.gov (United States)

    Hammen, Constance; Brennan, Patricia A.; Keenan-Miller, Danielle; Herr, Nathaniel R.

    2008-01-01

    Background: Evaluated trajectories of adolescent depression and their correlates in a longitudinal study of a community sample: early onset (by age 15) with major depression (MDE) recurrence between 15 and 20; early onset with no recurrence; later onset of major depression after age 15 with and without recurrence by 20; and never-depressed.…

  8. Early-onset Pseudoexfoliation Syndrome following Multiple Intraocular Procedures

    Directory of Open Access Journals (Sweden)

    Heydar Amini

    2012-01-01

    Full Text Available Purpose: To present early-onset ocular manifestations of pseudoexfoliation syndrome in young patients who had undergone multiple intraocular procedures. Methods: This is an observational case series, introducing four cases with histories of multiple intraocular procedures for glaucoma. Results: All reported cases demonstrated typical manifestations of pseudoexfoliation unilaterally in the eye that had undergone multiple surgeries. The diagnosis of pseudoexfoliation was made prior to the age of 50 in all subjects and the earliest manifestation was at the age of 18 in a case with primary congenital glaucoma Conclusion: The role of multiple surgical procedures, in addition to genetic predisposition, should be further investigated as a possible inciting factor predisposing to pseudoexfoliation in younger individuals.

  9. Predictors of survival in severe, early onset COPD.

    Science.gov (United States)

    Hersh, Craig P; DeMeo, Dawn L; Al-Ansari, Essam; Carey, Vincent J; Reilly, John J; Ginns, Leo C; Silverman, Edwin K

    2004-11-01

    Multiple risk factors for mortality in patients with COPD have been described, but most studies have involved older, primarily male subjects. The purpose of this study was to determine the mortality rate and predictors of survival in subjects with severe, early onset COPD. The cohort of 139 probands in the Boston Early-Onset COPD Study was recruited from lung transplant and general pulmonary clinics between September 1994 and July 2002. Subjects were < 53 years old, had an FEV(1) of < 40% of predicted, did not have severe alpha(1)-antitrypsin deficiency, and had not undergone lung transplantation. The initial evaluation included a standardized respiratory questionnaire, spirometry, and a blood sample. A follow-up telephone interview was conducted between May and December 2002. Subjects were young (mean age at enrollment, 47.9 years) and had severe airflow obstruction (mean baseline FEV(1), 19.4% predicted). A total of 72.7% of the subjects were women (p < 0.0001 [comparison to equal gender distribution]). The median estimated survival time was 7.0 years from the time of study enrollment, determined by the Kaplan-Meier method. The majority of deaths were due to cardiorespiratory illness. In a multivariable Cox proportional hazards model, adjusting for age, gender, and baseline FEV(1), lifetime cigarette consumption (hazard ratio [HR], 1.20 [per 10 pack-years]; 95% confidence interval [CI], 1.02 to 1.40) and recent smoking status (HR, 2.50; 95% CI, 1.03 to 6.05) were both significant predictors of mortality. In this cohort, recent smoking status predicted increased mortality independent of the effects of lifetime smoking intensity. Smoking cessation may confer a survival benefit even among patients with very severe COPD.

  10. LORETA current source density for duration mismatch negativity and neuropsychological assessment in early schizophrenia.

    Directory of Open Access Journals (Sweden)

    Tomohiro Miyanishi

    Full Text Available INTRODUCTION: Patients with schizophrenia elicit cognitive decline from the early phase of the illness. Mismatch negativity (MMN has been shown to be associated with cognitive function. We investigated the current source density of duration mismatch negativity (dMMN, by using low-resolution brain electromagnetic tomography (LORETA, and neuropsychological performance in subjects with early schizophrenia. METHODS: Data were obtained from 20 patients meeting DSM-IV criteria for schizophrenia or schizophreniform disorder, and 20 healthy control (HC subjects. An auditory odd-ball paradigm was used to measure dMMN. Neuropsychological performance was evaluated by the brief assessment of cognition in schizophrenia Japanese version (BACS-J. RESULTS: Patients showed smaller dMMN amplitudes than those in the HC subjects. LORETA current density for dMMN was significantly lower in patients compared to HC subjects, especially in the temporal lobes. dMMN current density in the frontal lobe was positively correlated with working memory performance in patients. CONCLUSIONS: This is the first study to identify brain regions showing smaller dMMN current density in early schizophrenia. Further, poor working memory was associated with decreased dMMN current density in patients. These results are likely to help understand the neural basis for cognitive impairment of schizophrenia.

  11. Neuroanatomical Markers of Neurological Soft Signs in Recent-Onset Schizophrenia and Asperger-Syndrome.

    Science.gov (United States)

    Hirjak, Dusan; Wolf, Robert C; Paternoga, Isa; Kubera, Katharina M; Thomann, Anne K; Stieltjes, Bram; Maier-Hein, Klaus H; Thomann, Philipp A

    2016-05-01

    Neurological soft signs (NSS) are frequently found in psychiatric disorders of significant neurodevelopmental origin. Previous MRI studies in schizophrenia have shown that NSS are associated with abnormal cortical, thalamic and cerebellar structure and function. So far, however, no neuroimaging studies investigated brain correlates of NSS in individuals with Asperger-Syndrome (AS) and the question whether the two disorders exhibit common or disease-specific cortical correlates of NSS remains unresolved. High-resolution MRI data at 3 T were obtained from 48 demographically matched individuals (16 schizophrenia patients, 16 subjects with AS and 16 healthy individuals). The surface-based analysis via Freesurfer enabled calculation of cortical thickness, area and folding (local gyrification index, LGI). NSS were examined on the Heidelberg Scale and related to cortical measures. In schizophrenia, higher NSS were associated with reduced cortical thickness and LGI in fronto-temporo-parietal brain areas. In AS, higher NSS were associated with increased frontotemporal cortical thickness. This study lends further support to the hypothesis that disorder-specific mechanisms contribute to NSS expression in schizophrenia and AS. Pointing towards dissociable neural patterns may help deconstruct the complex processes underlying NSS in these neurodevelopmental disorders.

  12. Genetic evidence for the association between the early growth response 3 (EGR3 gene and schizophrenia.

    Directory of Open Access Journals (Sweden)

    Rui Zhang

    Full Text Available Recently, two genome scan meta-analysis studies have found strong evidence for the association of loci on chromosome 8p with schizophrenia. The early growth response 3 (EGR3 gene located in chromosome 8p21.3 was also found to be involved in the etiology of schizophrenia. However, subsequent studies failed to replicate this finding. To investigate the genetic role of EGR3 in Chinese patients, we genotyped four SNPs (average interval ∼2.3 kb in the chromosome region of EGR3 in 470 Chinese schizophrenia patients and 480 healthy control subjects. The SNP rs35201266 (located in intron 1 of EGR3 showed significant differences between cases and controls in both genotype frequency distribution (P = 0.016 and allele frequency distribution (P = 0.009. Analysis of the haplotype rs35201266-rs3750192 provided significant evidence for association with schizophrenia (P = 0.0012; a significant difference was found for the common haplotype AG (P = 0.0005. Furthermore, significant associations were also found in several other two-, and three-SNP tests of haplotype analyses. The meta-analysis revealed a statistically significant association between rs35201266 and schizophrenia (P = 0.0001. In summary, our study supports the association of EGR3 with schizophrenia in our Han Chinese sample, and further functional exploration of the EGR3 gene will contribute to the molecular basis for the complex network underlying schizophrenia pathogenesis.

  13. 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.

  14. 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 ye

  15. Early motor developmental milestones and schizophrenia: A systematic review and meta-analysis.

    Science.gov (United States)

    Filatova, S; Koivumaa-Honkanen, H; Hirvonen, N; Freeman, A; Ivandic, I; Hurtig, T; Khandaker, G M; Jones, P B; Moilanen, K; Miettunen, J

    2017-01-25

    The neurodevelopmental hypothesis of schizophrenia proposes that impaired brain development is a cause of the illness. Early motor developmental milestones, such as learning to walk, are predictors of later schizophrenia but studies have not been systematically reviewed. The aim of the present systematic review and meta-analysis was to explore the association between early motor developmental milestones and the risk of adult schizophrenia. In addition, we updated a systematic review on motor function and risk of schizophrenia. The PubMed, PsycINFO and Scopus databases were searched for original research articles published up to July 2015. Motor milestones were measured between ages 0 and 13years. Random effect meta-analysis calculated effect estimates (Hedges' g) for the association between individual motor milestones and schizophrenia risk. An electronic database and selected articles reference list search identified 5990 articles after removing duplicates. Sixty-nine full text articles were assessed for eligibility of which six were included in the review. Five studies provided sufficient data for meta-analyses. The following motor milestones were significantly associated with adult schizophrenia risk: walking unsupported (g=0.46; 95% CI 0.27-0.64; pmotor milestones in childhood and can contribute to the identification of individuals at risk of psychosis.

  16. Height, weight and body mass index in early adulthood and risk of schizophrenia

    DEFF Research Database (Denmark)

    Sørensen, Holger Jelling; Mortensen, E L; Reinisch, J M;

    2006-01-01

    individuals born between 1959 and 1961. In 1999, cases of schizophrenia were identified in the Danish Psychiatric Central Register, and the cases were compared with the cohort pool of controls with respect to height, weight, and BMI from draft records. The effect of low BMI was adjusted for parental social......OBJECTIVE: To illuminate the possible associations between height, weight, and body mass index (BMI) during early adulthood and the development of schizophrenia. METHOD: This prospective study is based on an all-male sample of 3210 individuals from the Copenhagen Perinatal Cohort, comprising...... status when the cohort members were 1 year old, birth weight, birth length, and maternal pre-pregnancy BMI. RESULTS: Forty-five cases of schizophrenia had a lower young adult mean body weight and BMI than controls. A significant inverse relationship between BMI and risk of later schizophrenia was found...

  17. Height, weight and body mass index in early adulthood and risk of schizophrenia

    DEFF Research Database (Denmark)

    2006-01-01

    status when the cohort members were 1 year old, birth weight, birth length, and maternal pre-pregnancy BMI. RESULTS: Forty-five cases of schizophrenia had a lower young adult mean body weight and BMI than controls. A significant inverse relationship between BMI and risk of later schizophrenia was found....... No significant differences between cases and controls were observed with respect to adult height. CONCLUSION: Independent of several possible confounders, an inverse relationship between young adult BMI and risk of later development of schizophrenia was demonstrated in this all-male sample.......OBJECTIVE: To illuminate the possible associations between height, weight, and body mass index (BMI) during early adulthood and the development of schizophrenia. METHOD: This prospective study is based on an all-male sample of 3210 individuals from the Copenhagen Perinatal Cohort, comprising...

  18. Late-onset systemic lupus erythematosus in Northwestern Spain: differences with early-onset systemic lupus erythematosus and literature review.

    Science.gov (United States)

    Alonso, M D; Martinez-Vazquez, F; de Teran, T Diaz; Miranda-Filloy, J A; Dierssen, T; Blanco, R; Gonzalez-Juanatey, C; Llorca, J; Gonzalez-Gay, M A

    2012-09-01

    To further investigate into the epidaemiology of systemic lupus erythematosus (SLE) in Southern Europe, we have assessed the incidence, clinical spectrum and survival of patients diagnosed with late-onset SLE (age ≥ 50 years) according to the 1982 American College of Rheumatology (ACR) classification criteria at the single hospital for a well-defined population of Lugo, Northwestern (NW) Spain. Between January 1987 and December 2006, 51 (39.3%) of the 150 patients diagnosed as having SLE fulfilled definitions for late-onset SLE. The predominance of women among late-onset SLE (4:1) was reduced when compared with that observed in early-onset SLE (7:1). However, the incidence of late-onset SLE was significantly higher in women (4.2 [95% confidence interval (CI): 3.1-5.6] per 100,000 population) than in men (1.3 [95% CI: 0.6-2.2] per 100,000 population) (p < 0.001). As observed in early-onset SLE, the most frequent clinical manifestation in patients with late-onset SLE was arthritis (71.2%). Renal disease was less common in late-onset SLE (13.5%) than in early-onset SLE (26.4%); p = 0.07). In contrast, secondary Sjögren syndrome was more commonly found in the older age-group (27.1% versus 12.1%; p = 0.03). A non-significantly increased incidence of serositis was also observed in late-onset SLE patients (33.9% versus 22.0%; p = 0.13). Hypocomplementaemia (72.9% versus 91.2%) and positive results for anti-DNA and anti-Sm (49.2% and 6.8% versus 68.1% and 23.1, respectively) were significantly less common in late-onset SLE patients than in early-onset SLE. The probability of survival was reduced in late-onset SLE (p < 0.001). With respect to this, the 10-year and 15-year survival probability were 74.9 % and 63.3% in the late-onset SLE group and 96.3% and 91.0% in patients with early-onset SLE, respectively. In conclusion, our results confirm that in NW Spain SLE is not uncommon in individuals 50 years and older. In keeping with earlier studies

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

    DEFF Research Database (Denmark)

    Pagsberg, A K; Baaré, W F C; 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, delusi...

  20. Effects of Cognitive Enhancement Therapy on Employment Outcomes in Early Schizophrenia: Results from a 2-Year Randomized Trial

    Science.gov (United States)

    Eack, Shaun M.; Hogarty, Gerard E.; Greenwald, Deborah P.; Hogarty, Susan S.; Keshavan, Matcheri S.

    2011-01-01

    Objective: To examine the effects of psychosocial cognitive rehabilitation on employment outcomes in a randomized controlled trial for individuals with early course schizophrenia. Method: Early course schizophrenia outpatients (N = 58) were randomly assigned to cognitive enhancement therapy (CET) or an enriched supportive therapy (EST) control and…

  1. Effects of Cognitive Enhancement Therapy on Employment Outcomes in Early Schizophrenia: Results from a 2-Year Randomized Trial

    Science.gov (United States)

    Eack, Shaun M.; Hogarty, Gerard E.; Greenwald, Deborah P.; Hogarty, Susan S.; Keshavan, Matcheri S.

    2011-01-01

    Objective: To examine the effects of psychosocial cognitive rehabilitation on employment outcomes in a randomized controlled trial for individuals with early course schizophrenia. Method: Early course schizophrenia outpatients (N = 58) were randomly assigned to cognitive enhancement therapy (CET) or an enriched supportive therapy (EST) control and…

  2. A preliminary study on the alterations of grey matter volume in patients with early adulthood episode schizophrenia

    Institute of Scientific and Technical Information of China (English)

    刘萍萍

    2012-01-01

    Objective To investigate the grey matter volume in patients with early adulthood episode (18-25 ages)schizophrenia and the correlations between regional volume and symptoms severity. Methods Twenty-one schizophrenia patients with early adulthood episode and twenty-one normal controls matched with age,sex and education

  3. Sequencing and Analyzing the "t" (1;7) Reciprocal Translocation Breakpoints Associated with a Case of Childhood-Onset Schizophrenia/Autistic Disorder

    Science.gov (United States)

    Idol, Jacquelyn R.; Addington, Anjene M.; Long, Robert T.; Rapoport, Judith L.; Green, Eric D.

    2008-01-01

    We characterized a "t"(1;7)(p22;q21) reciprocal translocation in a patient with childhood-onset schizophrenia (COS) and autism using genome mapping and sequencing methods. Based on genomic maps of human chromosome 7 and fluorescence in situ hybridization (FISH) studies, we delimited the region of 7q21 harboring the translocation breakpoint to a…

  4. Ziprasidone Vs Olanzapine in Recent-Onset Schizophrenia and Schizoaffective Disorder : Results of an 8-Week Double-Blind Randomized Controlled Trial

    NARCIS (Netherlands)

    Grootens, K. P.; van Veelen, N. M. J.; Peuskens, J.; Sabbe, B. G. C.; Thys, E.; Buitelaar, J. K.; Verkes, R. J.; Kahn, R. S.

    Introduction: Head-to-head comparisons of antipsychotics have predominantly included patients with chronic conditions. The aim of the present study was to compare the efficacy and tolerability of ziprasidone and olanzapine in patients with recent-onset schizophrenia. Methods: The study was an

  5. Schizophrenia

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    2005280 Association between polymorphism in the dopamine D4 receptor gene and qualitative and quantitative characters of schizophrenia in Chinese. ZHAO Ai-ling(赵爱玲),et al. Dept Psych, 2nd Xi-angya Hosp,Central South Univ,Changsha 410011. Chin J Psychi,2005;38(1) :3-6. Objective: To investigate the relationship between 48 bp variant number tandem repeat polymorphism in the third exon of dopamine D4 receptor (DRD4) gene

  6. Schizophrenia

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    2008489 Establishment of a schizophrenia mouse model of deficient sensorimotor gating by MK-801. SU Yunai(苏允爱), et al. Key Lab, Ment Health, Health Ministry, Instit Ment Health Peking Univ, Beijing 100083.Chin J Nerv Ment Dis 2008;34(5):283-286. Objective To investigate the effects of MK-801, a selective non-competitive N-methyl-D-aspartate (NMDA) receptor antagonist, on

  7. 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.

  8. Maternal inheritance in recurrent early-onset depression.

    Science.gov (United States)

    Bergemann, Eric R; Boles, Richard G

    2010-02-01

    Major depressive disorder (MDD) is believed to have a genetic factor in its pathogenesis. On the basis of studies in MDD showing brain energy depletion and maternal inheritance in some families, we hypothesize that some of the genetic factor is likely maternally inherited on the mitochondrial DNA (mtDNA). Six hundred and seventy-two pedigrees from the Genetics of Recurrent Early-Onset Depression project were analyzed for matrilineal/nonmatrilineal pairs. Pairs were constructed to control for sex, age and autosomal gene contribution (e.g. maternal vs. paternal aunts). Individuals with and without any mood disorder were tallied and compared across five different pairs. Matrilineal relatives (with the same mtDNA sequence as the proband) were significantly more likely to suffer from a mood disorder than were nonmatrilineal relatives (with another mtDNA sequence; odds ratio 2.0, 95% confidence interval: 1.5-2.6, P = 3 x 10(-6)). Our data show a modest maternal bias in the susceptibility towards the development of depression, suggesting that predisposing genetic factors likely reside on the mtDNA. Thus, our data strengthen the hypothesis that energy metabolism may be involved in the pathogenesis of depression.

  9. 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.

  10. HLA region excluded by linkage analyses of early onset periodontitis

    Energy Technology Data Exchange (ETDEWEB)

    Sun, C.; Wang, S.; Lopez, N.

    1994-09-01

    Previous studies suggested that HLA genes may influence susceptibility to early-onset periodontitis (EOP). Segregation analyses indicate that EOP may be due to a single major gene. We conducted linkage analyses to assess possible HLA effects on EOP. Fifty families with two or more close relatives affected by EOP were ascertained in Virginia and Chile. A microsatellite polymorphism within the HLA region (at the tumor necrosis factor beta locus) was typed using PCR. Linkage analyses used a donimant model most strongly supported by previous studies. Assuming locus homogeneity, our results exclude a susceptibility gene within 10 cM on either side of our marker locus. This encompasses all of the HLA region. Analyses assuming alternative models gave qualitatively similar results. Allowing for locus heterogeneity, our data still provide no support for HLA-region involvement. However, our data do not statistically exclude (LOD <-2.0) hypotheses of disease-locus heterogeneity, including models where up to half of our families could contain an EOP disease gene located in the HLA region. This is due to the limited power of even our relatively large collection of families and the inherent difficulties of mapping genes for disorders that have complex and heterogeneous etiologies. Additional statistical analyses, recruitment of families, and typing of flanking DNA markers are planned to more conclusively address these issues with respect to the HLA region and other candidate locations in the human genome. Additional results for markers covering most of the human genome will also be presented.

  11. Early-onset arthritis in retired National Football League players.

    Science.gov (United States)

    Golightly, Yvonne M; Marshall, Stephen W; Callahan, Leigh F; Guskiewicz, Kevin

    2009-09-01

    Injury has been identified as a potential risk factor for osteoarthritis. However, no previous study has addressed playing-career injuries and subsequent osteoarthritis in a large sample of former athletes. The purpose of this study was to describe the prevalence and determinants of arthritis and osteoarthritis in retired professional football players. Self-reported arthritis prevalence and retrospectively-recalled injury history were examined in a cross-sectional survey of 2,538 retired football players. Football players reported a high incidence of injury from their professional playing days (52.8% reported knee injuries, 74.1% reported ligament/tendon injuries, and 14.2% reported anterior cruciate ligament tears). For those under 60 years, 40.6% of retired NFL players reported arthritis, compared with 11.7% of U.S. males (prevalence ratio = 3.5, 95% CI: 3.3 to 3.7). Within the retired NFL player cohort, osteoarthritis was more prevalent in those with a history of knee injury (prevalence ratio = 1.7, 95% CI: 1.5 to 1.9) and ligament/tendon injury (prevalence ratio = 1.6, 95% CI: 1.4 to 1.9). In males under the age of 60, arthritis is over 3 times more prevalent in retired NFL players than in the general U.S. population. This excess of early-onset arthritis may be due to the high incidence of injury in football.

  12. Early-Onset Friedreich's Ataxia With Oculomotor Apraxia

    Directory of Open Access Journals (Sweden)

    Amene Saghazadeh

    2017-02-01

    Full Text Available Friedreich’s ataxia (FRDA is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a GAA-trinucleotide repeat expansion in the first intron of Frataxin gene located on chromosome 9. The clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. Ataxia with ocular motor apraxia type 1 (AOA1 is another autosomal recessive cerebellar ataxia which is associated with oculomotor apraxia, hypoalbuminaemia, and hypercholesterolemia. Here we describe two siblings (13- and 10-year-old display overlapping clinical features of both early-onset FRDA and AOA1. Almost all of laboratory test (including urinary analysis/culture, biochemistry, peripheral blood smear, C-reactive protein level, erythrocyte sedimentation rate-1h results were within the normal range for both patients. Due to the normal laboratory test results; we concluded that the diagnosis was more likely to be FRDA than AOA1. Therefore, neurologists should bear in mind that clinical presentations of FRDA may vary widely from the classical phenotype of gait and limb ataxia to atypical manifestations such as oculomotor apraxia.

  13. Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.

    Science.gov (United States)

    Miyake, Noriko; Fukai, Ryoko; Ohba, Chihiro; Chihara, Takahiro; Miura, Masayuki; Shimizu, Hiroshi; Kakita, Akiyoshi; Imagawa, Eri; Shiina, Masaaki; Ogata, Kazuhiro; Okuno-Yuguchi, Jiu; Fueki, Noboru; Ogiso, Yoshifumi; Suzumura, Hiroshi; Watabe, Yoshiyuki; Imataka, George; Leong, Huey Yin; Fattal-Valevski, Aviva; Kramer, Uri; Miyatake, Satoko; Kato, Mitsuhiro; Okamoto, Nobuhiko; Sato, Yoshinori; Mitsuhashi, Satomi; Nishino, Ichizo; Kaneko, Naofumi; Nishiyama, Akira; Tamura, Tomohiko; Mizuguchi, Takeshi; Nakashima, Mitsuko; Tanaka, Fumiaki; Saitsu, Hirotomo; Matsumoto, Naomichi

    2016-10-06

    We describe four families with affected siblings showing unique clinical features: early-onset (before 1 year of age) progressive diffuse brain atrophy with regression, postnatal microcephaly, postnatal growth retardation, muscle weakness/atrophy, and respiratory failure. By whole-exome sequencing, we identified biallelic TBCD mutations in eight affected individuals from the four families. TBCD encodes TBCD (tubulin folding co-factor D), which is one of five tubulin-specific chaperones playing a pivotal role in microtubule assembly in all cells. A total of seven mutations were found: five missense mutations, one nonsense, and one splice site mutation resulting in a frameshift. In vitro cell experiments revealed the impaired binding between most mutant TBCD proteins and ARL2, TBCE, and β-tubulin. The in vivo experiments using olfactory projection neurons in Drosophila melanogaster indicated that the TBCD mutations caused loss of function. The wide range of clinical severity seen in this neurodegenerative encephalopathy may result from the residual function of mutant TBCD proteins. Furthermore, the autopsied brain from one deceased individual showed characteristic neurodegenerative findings: cactus and somatic sprout formations in the residual Purkinje cells in the cerebellum, which are also seen in some diseases associated with mitochondrial impairment. Defects of microtubule formation caused by TBCD mutations may underlie the pathomechanism of this neurodegenerative encephalopathy. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  14. Cardiovascular disease risk factors after early-onset preeclampsia, late-onset preeclampsia, and pregnancy-induced hypertension.

    Science.gov (United States)

    Veerbeek, Jan H W; Hermes, Wietske; Breimer, Anath Y; van Rijn, Bas B; Koenen, Steven V; Mol, Ben W; Franx, Arie; de Groot, Christianne J M; Koster, Maria P H

    2015-03-01

    Observational studies have shown an increased lifetime risk of cardiovascular disease (CVD) in women who experienced a hypertensive disorder in pregnancy. This risk is related to the severity of the pregnancy-related hypertensive disease and gestational age at onset. However, it has not been investigated whether these differences in CVD risk factors are already present at postpartum cardiovascular screening. We evaluated postpartum differences in CVD risk factors in 3 subgroups of patients with a history of hypertensive pregnancy. We compared the prevalence of common CVD risk factors postpartum among 448 women with previous early-onset preeclampsia, 76 women with previous late-onset preeclampsia, and 224 women with previous pregnancy-induced hypertension. Women with previous early-onset preeclampsia were compared with women with late-onset preeclampsia and pregnancy-induced hypertension and had significantly higher fasting blood glucose (5.29 versus 4.80 and 4.83 mmol/L), insulin (9.12 versus 6.31 and 6.7 uIU/L), triglycerides (1.32 versus 1.02 and 0.97 mmol/L), and total cholesterol (5.14 versus 4.73 and 4.73 mmol/L). Almost half of the early-onset preeclampsia women had developed hypertension, as opposed to 39% and 25% of women in the pregnancy-induced hypertension and late-onset preeclampsia groups, respectively. Our data show differences in the prevalence of common modifiable CVD risk factors postpartum and suggest that prevention strategies should be stratified according to severity and gestational age of onset for the hypertensive disorders of pregnancy.

  15. Predisposing factors for early retirement in patients with schizophrenia in Germany.

    Science.gov (United States)

    Schnabel, Reinhard; Friedel, Heiko; Erfurth, Andreas; Angermayer, Matthias; Clouth, Johannes; Eichmann, Florian

    2008-08-01

    Although early retirement causes major changes in the life of schizophrenic patients and is among the major cost factors to be covered by payers, the causes leading to early retirement of schizophrenic patients have not been investigated in detail. Therefore, the objective of this retrospective non-interventional case-control study was to generate hypotheses on predisposing factors for early retirement in schizophrenia. Logistic regression was used to explore potential predisposing parameters with regard to their effect on the outcome early retirement. As the study results indicate, schizophrenia severity, assistance or care in the patient's everyday life, age and antipsychotic treatment with typical antipsychotics are linked to the occurrence of early retirement. Further research should be planned to confirm or refute the hypotheses determined in this retrospective analysis and to determine whether atypical antipsychotics could help to avoid early retirement and to improve the situation of schizophrenic patients.

  16. Hippocampus in schizophrenia, depression, and suicide: a postmortem stereological study of hippocampal volume and cell number

    DEFF Research Database (Denmark)

    Dorph-Petersen, Karl-Anton; Rosenberg, Raben; Nyengaard, Jens Randel

    2015-01-01

    Background: Robust data from studies of incidence rates in schizophrenia have yielded evidence for a peak in onset at age 22 years in both males and females. An early age of illness onset has been discussed as a more severe (Table Presented) subtype of schizophrenia, characterized by a worse illn...

  17. 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.

  18. Evidence for apolipoprotein E {epsilon}4 association in early-onset Alzheimer`s patients with late-onset relatives

    Energy Technology Data Exchange (ETDEWEB)

    Perez-Tur, J.; Delacourte, A.; Chartier-Harlin, M.C. [INSERM, Rouen (France)] [and others

    1995-12-18

    Recently several reports have extended the apolipoprotein E (APOE) {epsilon}4 association found in late-onset Alzheimer`s disease (LOAD) patients to early-onset (EO) AD patients. We have studied this question in a large population of 119 EOAD patients (onset {<=}60 years) in which family history was carefully assessed and in 109 controls. We show that the APOE {epsilon}A allele frequency is increased only in the subset of patients who belong to families where LOAD secondary cases are present. Our sampling scheme permits us to demonstrate that, for an individual, bearing at least one {epsilon}4 allele increases both the risk of AD before age 60 and the probability of belonging to a family with late-onset affected subjects. Our results suggest that a subset of EOAD cases shares a common determinism with LOAD cases. 19 refs., 3 tabs.

  19. DNAJC6 Mutations Associated with Early-Onset Parkinson's Disease

    NARCIS (Netherlands)

    S. Olgiati (Simone); M. Quadri (Marialuisa); M. Fang (Mingyan); J.P.M.A. Rood (Janneke P.M.A.); J.A. Saute (Jonas A.); H.F. Chien (Hsin Fen); C.G. Bouwkamp (Christian); J. Graafland (Josja); M. Minneboo (Michelle); G.J. Breedveld (Guido J.); J. Zhang (Jianguo); F.W. Verheijen (Frans W.); A.J.W. Boon (Agnita J.W.); A.J.A. Kievit (Anneke J.A.); L.B. Jardim (L.); W.J. Mandemakers (Wim); E.R. Barbosa (Egberto Reis); C.R.M. Rieder (Carlos); K.L. Leenders (Klaus L.); J. Wang (Jinxia); V. Bonifati (Vincenzo)

    2016-01-01

    markdownabstract_Objective_ DNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age < 11), prominent atypical signs, poor or absent response to levodopa, and rapid progression (wheelchair-bound within ∼10 years from onset). Here, for the

  20. Clinical features and gene analysis in Korean patients with early-onset Parkinson disease.

    Science.gov (United States)

    Chung, Eun Joo; Ki, Chang-Seok; Lee, Won Yong; Kim, In-Suk; Kim, Ji-Youn

    2006-08-01

    Systematic analysis of clinical features and gene mutations has not been performed in Korean patients with early-onset Parkinson disease (PD). To investigate the clinical characteristics and genetic background of Korean patients with early-onset PD. Clinical and genetic study. University hospital. Ninety-four patients with early-onset PD (mean +/- SD age at onset, 39.8 +/- 7.3 years) of 1100 patients with PD. Analysis of clinical characteristics and mutation analysis of the parkin and PTEN-induced kinase (PINK1) genes by direct sequencing and gene-dosage analysis using the multiplex ligation-dependent probe amplification technique. The correlation between age at onset and clinical characteristics and the clinical features of patients with onset before age 30 years vs patients with onset after age 30 years. Because age at onset was younger, levodopa-induced dyskinesia and off-dystonia were more frequently observed (P=.008). Patients affected before age 30 years showed more frequent levodopa-induced dyskinesia and off-dystonia (P=.002). We identified 3 patients (5%) with parkin gene mutations but none with the PINK1 mutation. Earlier onset of levodopa-induced dyskinesia and off-dystonia were characteristic features of early-onset PD, especially before an onset age of 30 years. However, parkin gene mutations were less frequent in these patients than in Japanese groups reported elsewhere.

  1. 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…

  2. Rare variants in GJA5 are associated with early-onset lone atrial fibrillation

    DEFF Research Database (Denmark)

    Christophersen, Ingrid E; Holmegard, Haya N; Jabbari, Javad;

    2013-01-01

    Genetic factors are believed to be important in early-onset lone atrial fibrillation (AF). The gene GJA5 encodes the gap-junction protein Cx40, which together with Cx43 is responsible for the electrical coupling of the atrial cardiomyocytes. The regulatory single nucleotide polymorphism rs10465885...... in GJA5 was recently associated with early-onset lone AF (...

  3. 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…

  4. Follow up of intima-media thickness after severe early-onset preeclampsia

    NARCIS (Netherlands)

    Blaauw, Judith; Souwer, Esteban T D; Coffeng, Sophie M; Smit, Andries J; van Doormaal, Jasper J; Faas, Marijke M; van Pampus, Maria G

    2014-01-01

    OBJECTIVE: Early-onset preeclampsia is associated with premature cardiovascular disease. We previously demonstrated that femoral intima-media thickness (IMT) and markers of cardiovascular disease were increased in women 1 year after early-onset preeclampsia. The current study measured (progression o

  5. Children with Very Early Onset Obsessive-Compulsive Disorder: Clinical Features and Treatment Outcome

    Science.gov (United States)

    Nakatani, Eriko; Krebs, Georgina; Micali, Nadia; Turner, Cynthia; Heyman, Isobel; Mataix-Cols, David

    2011-01-01

    Background: There is emerging evidence that early onset obsessive-compulsive disorder (OCD) may be a phenomenologically distinct subtype of the disorder. Previous research has shown that individuals who report an early onset display greater severity and persistence of symptoms, and they may be less responsive to treatment. To date, this question…

  6. Early-onset preeclampsia : Constitutional factors and consequences for future pregnancy outcome and cardiovascular health

    NARCIS (Netherlands)

    van Rijn, B.B.

    2008-01-01

    In this thesis, maternal constitutional factors related to long-term cardiovascular health and subsequent pregnancy outcome in women with early-onset preeclampsia is addressed. Aims of the thesis: To evaluate subsequent pregnancy outcome in women with a first pregnancy complicated by early-onset

  7. [46-OR] : Early and late onset preeclampsia versus small for gestational age risks in subsequent pregnancies

    NARCIS (Netherlands)

    Bernardes, Thomas P; Mol, Ben W; Ravelli, Anita C; van den Berg, Paul P; Stolk, Ronald P; Groen, Henk

    2015-01-01

    OBJECTIVES: Current literature suggests that early and late onset preeclampsia should be treated as distinct entities and that early onset preeclampsia shares pathophysiology aspects with intrauterine growth restriction. Our objective was to investigate whether 5th percentile small for gestational a

  8. Internalizing and Externalizing Behaviors as Predictors of Sexual Onset in Early Adolescence

    Science.gov (United States)

    Boislard, Marie-Aude P.; Dussault, Frédéric; Brendgen, Mara; Vitaro, Frank

    2013-01-01

    This study had three goals: (a) assessing the predictive association of externalizing and internalizing behaviors during childhood with sexual onset during early adolescence; (b) examining the interactive link of externalizing and internalizing behaviors with early sexual onset; and (c) investigating the moderating effect of gender in this…

  9. Early-onset preeclampsia : Constitutional factors and consequences for future pregnancy outcome and cardiovascular health

    NARCIS (Netherlands)

    van Rijn, B.B.

    2008-01-01

    In this thesis, maternal constitutional factors related to long-term cardiovascular health and subsequent pregnancy outcome in women with early-onset preeclampsia is addressed. Aims of the thesis: To evaluate subsequent pregnancy outcome in women with a first pregnancy complicated by early-onset pre

  10. 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

    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...

  11. 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…

  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. Frontal Motor Cortex Activity During Reactive Control Is Associated With Past Suicidal Behavior in Recent-Onset Schizophrenia.

    Science.gov (United States)

    Minzenberg, Michael J; Lesh, Tyler; Niendam, Tara; Yoon, Jong H; Cheng, Yaoan; Rhoades, Remy N; Carter, Cameron S

    2015-01-01

    Suicide is prevalent in schizophrenia (SZ), yet the neural system functions that confer suicide risk remain obscure. Circuits operated by the prefrontal cortex (PFC) are altered in SZ, including those that support reactive control, and PFC changes are observed in postmortem studies of heterogeneous suicide victims. We tested whether history of suicide attempt is associated with altered frontal motor cortex activity during reactive control processes. We evaluated 17 patients with recent onset of DSM-IV-TR-defined SZ using the Columbia Suicide Severity Rating Scale and functional magnetic resonance imaging during Stroop task performance. Group-level regression models relating past suicidal behavior to frontal activation controlled for depression, psychosis, and impulsivity. Past suicidal behavior was associated with relatively higher activation in the left-hemisphere supplementary motor area (SMA), pre-SMA, premotor cortex, and dorsolateral PFC, all ipsilateral to the active primary motor cortex. This study provides unique evidence that suicidal behavior in patients with recent-onset SZ directly relates to frontal motor cortex activity during reactive control, in a pattern reciprocal to the relationship with proactive control found previously. Further work should address how frontal-based control functions change with risk over time, and their potential utility as a biomarker for interventions to mitigate suicide risk in SZ.

  14. Lipidomics reveals early metabolic changes in subjects with schizophrenia: effects of atypical antipsychotics.

    Directory of Open Access Journals (Sweden)

    Joseph McEvoy

    Full Text Available There is a critical need for mapping early metabolic changes in schizophrenia to capture failures in regulation of biochemical pathways and networks. This information could provide valuable insights about disease mechanisms, trajectory of disease progression, and diagnostic biomarkers. We used a lipidomics platform to measure individual lipid species in 20 drug-naïve patients with a first episode of schizophrenia (FE group, 20 patients with chronic schizophrenia that had not adhered to prescribed medications (RE group, and 29 race-matched control subjects without schizophrenia. Lipid metabolic profiles were evaluated and compared between study groups and within groups before and after treatment with atypical antipsychotics, risperidone and aripiprazole. Finally, we mapped lipid profiles to n3 and n6 fatty acid synthesis pathways to elucidate which enzymes might be affected by disease and treatment. Compared to controls, the FE group showed significant down-regulation of several n3 polyunsaturated fatty acids (PUFAs, including 20:5n3, 22:5n3, and 22:6n3 within the phosphatidylcholine and phosphatidylethanolamine lipid classes. Differences between FE and controls were only observed in the n3 class PUFAs; no differences where noted in n6 class PUFAs. The RE group was not significantly different from controls, although some compositional differences within PUFAs were noted. Drug treatment was able to correct the aberrant PUFA levels noted in FE patients, but changes in re patients were not corrective. Treatment caused increases in both n3 and n6 class lipids. These results supported the hypothesis that phospholipid n3 fatty acid deficits are present early in the course of schizophrenia and tend not to persist throughout its course. These changes in lipid metabolism could indicate a metabolic vulnerability in patients with schizophrenia that occurs early in development of the disease.

  15. Feasibility of PRIME: A Cognitive Neuroscience-Informed Mobile App Intervention to Enhance Motivated Behavior and Improve Quality of Life in Recent Onset Schizophrenia.

    Science.gov (United States)

    Schlosser, Danielle; Campellone, Timothy; Kim, Daniel; Truong, Brandy; Vergani, Silvia; Ward, Charlie; Vinogradov, Sophia

    2016-04-28

    Despite improvements in treating psychosis, schizophrenia remains a chronic and debilitating disorder that affects approximately 1% of the US population and costs society more than depression, dementia, and other medical illnesses across most of the lifespan. Improving functioning early in the course of illness could have significant implications for long-term outcome of individuals with schizophrenia. Yet, current gold-standard treatments do not lead to clinically meaningful improvements in outcome, partly due to the inherent challenges of treating a population with significant cognitive and motivational impairments. The rise of technology presents an opportunity to develop novel treatments that may circumvent the motivational and cognitive challenges observed in schizophrenia. The purpose of this study was two-fold: (1) to evaluate the feasibility and acceptability of implementing a Personalized Real-Time Intervention for Motivation Enhancement (PRIME), a mobile app intervention designed to target reward-processing impairments, enhance motivation, and thereby improve quality of life in recent onset schizophrenia, and (2) evaluate the empirical benefits of using an iterative, user-centered design (UCD) process. We conducted two design workshops with 15 key stakeholders, followed by a series of in-depth interviews in collaboration with IDEO, a design and innovation firm. The UCD approach ultimately resulted in the first iteration of PRIME, which was evaluated by 10 RO participants. Results from the Stage 1 participants were then used to guide the next iteration that is currently being evaluated in an ongoing RCT. Participants in both phases were encouraged to use the app daily with a minimum frequency of 1/week over a 12-week period. The UCD process resulted in the following feature set: (1) delivery of text message (short message service, SMS)-based motivational coaching from trained therapists, (2) individualized goal setting in prognostically important

  16. Stigma toward psychosis and its formulation process: prejudice and discrimination against early stages of schizophrenia.

    Science.gov (United States)

    Baba, Yoko; Nemoto, Takahiro; Tsujino, Naohisa; Yamaguchi, Taiju; Katagiri, Naoyuki; Mizuno, Masafumi

    2017-02-01

    Stigma toward psychosis can prevent social attendance and help-seeking behavior. Early detection and intervention has been shown to improve patient outcome in schizophrenia. The aim of this study was to reveal the characteristics and formulation process of stigma toward each clinical stage of schizophrenia, taking people's backgrounds into consideration. The participants consisted of three groups: general public, patients with mental illness, and psychiatric professionals. We performed a survey examining stigmas toward people with psychotic-like-experiences (PLE), at-risk mental state for psychosis (ARMS), schizophrenia, or depression. Prejudice was measured using a 21-item questionnaire, and discrimination was measured using the Social Distance Scale. The participants consisted of 149 people from the general public, 97 patients, and 119 psychiatric professionals. Generally, a similar pattern was observed among the groups in which prejudice and discrimination against PLE was mildest, followed by that against ARMS and depression, and finally schizophrenia. When the stigma of the general public was compared with that of psychiatric professionals, the prejudice and discrimination against PLE of the general public were both lower than those of the psychiatric professionals. However, the prejudice of the general public was stronger than that of the professionals for ARMS. Furthermore, the discrimination of the general public was stronger than that of the professionals for schizophrenia. The stigmas of mental illness differed according to the clinical stage, although the pattern of severity was similar among the three groups. A formulation process is suggested in which stigma toward schizophrenia develops from an attitudinal property (prejudice) against ARMS and a behavioral property (discrimination) against schizophrenia. Copyright © 2016 Elsevier Inc. All rights reserved.

  17. Early onset scoliosis: the value of serial risser casts.

    Science.gov (United States)

    Waldron, Sean R; Poe-Kochert, Connie; Son-Hing, Jochen P; Thompson, George H

    2013-12-01

    Treatment of early onset scoliosis (EOS) is challenging. In many cases, bracing will not be effective and growing rod surgery may be inappropriate. Serial, Risser casts may be an effective intermediate method of treatment. We studied 20 consecutive patients with EOS who received serial Risser casts under general anesthesia between 1999 and 2011. Analyses included diagnosis, sex, age at initial cast application, major curve severity, initial curve correction, curve magnitude at the time of treatment change or latest follow-up for those still in casts, number of casts per patient, the type of subsequent treatment, and any complications. There were 8 patients with idiopathic scoliosis, 6 patients with neuromuscular scoliosis, 5 patients with syndromic scoliosis, and 1 patient with skeletal dysplasia. Fifteen patients were female and 5 were male. The mean age at first cast was 3.8±2.3 years (range, 1 to 8 y), and the mean major curve magnitude was 74±18 degrees (range, 40 to 118 degrees). After initial cast application, the major curve measured 46±14 degrees (range, 25 to 79 degrees). At treatment change or latest follow-up for those still in casts, the major curve measured 53±24 degrees (range, 13 to 112 degrees). The mean time in casts was 16.9±9.1 months (range, 4 to 35 mo). The mean number of casts per patient was 4.7±2.2 casts (range, 1 to 9 casts). At the time of this study, 7 patients had undergone growing rod surgery, 6 patients were still undergoing casting, 5 returned to bracing, and 2 have been lost to follow-up. Four patients had minor complications: 2 patients each with superficial skin irritation and cast intolerance. Serial Risser casting is a safe and effective intermediate treatment for EOS. It can stabilize relatively large curves in young children and allows the child to reach a more suitable age for other forms of treatment, such as growing rods. Level IV; case series.

  18. Walking strategies in subjects with congenital or early onset strabismus

    Directory of Open Access Journals (Sweden)

    Irene eAprile

    2014-07-01

    Full Text Available Introduction. In congenital strabismus, sensory adaptations occur hampering the correct development of normal binocular vision. The aim of this study is to investigate if patients with congenital or early onset exotropic or esotropic strabismus adopt different walking strategies with respect to healthy subjects. Our hypothesis is that the abnormal binocular cooperation, occurring in patients with exotropic or esotropic strabismus, could influence neurosensorial adaptation of the gait pattern. Materials and Methods. Twenty-five patients were enrolled:19 with esotropic (ESO and 6 with exotropic strabismus (EXO. All patients underwent a ophthalmological and orthoptic evaluation. Biomechanical data were collected using a stereophotogrammetric system and a force platform. Twenty-seven age-matched healthy subjects (HS were used as controls. Results. The comparison between patients with ESO and patients with EXO strabismus showed that the maximal power at the knee and at the ankle was lower in EXO group (p<0.01 and p<0.05 respectively. The step width was statistically different between ESO and EXO groups (p<0.01, lower in patients with ESO and higher in patients with EXO strabismus when compared with HS (though not statistically significant. The deviation angle values showed a relationship with the step width (at the near fixation p<0.05 and with the maximal power at the knee and at the ankle (at the far fixation for the knee p<0.001 and for the ankle p<0.05; at the near fixation for the knee p<0.05: in the patients with EXO the increased angle deviation is related to larger step width and to lower power at the knee and at the ankle. In the patients with ESO strabismus this relationship is less robust. Discussion. Patients with EXO and ESO strabismus adopt different strategies to compensate their walking difficulties, and these strategies are likely due to an expanded visual field in patients with EXO and to a reduced visual field in patients with ESO

  19. A case report on the relationship between treatment-resistant childhood-onset schizophrenia and an abnormally enlarged cavum septum pellucidum combined with cavum vergae

    Institute of Scientific and Technical Information of China (English)

    LIAO Zheng-luan; HU Shao-hua; XU Yi

    2012-01-01

    The treatment of refractory schizophrenia has been a clinical challenge for most psychiatrists; the possible reasons include diagnostic errors,medical conditions and brain dysgenesis.Here,we described a patient with childhood-onset schizophrenia who had severe psychiatric symptoms such as auditory hallucinations and persecutory delusions,and etc.We reexamined all his possible medical conditions and found that the patient had an abnormally enlarged cavus septum pellucidum (CSP) combined with cavum vergae (CV) (maximum length >30 mm).Some reports suggested that abnormal CSP (length >6 mm) has a significant association with schizophrenia.However,abnormally large CSP or CSP/CV and related prognosis were reported rarely.This case suggested that abnormally enlarged CSP or CSP/CV may worsen the prognosis.

  20. Early onset of puberty and early ovarian failure in CYP7B1 knockout mice

    OpenAIRE

    Omoto, Yoko; Lathe, Richard; Warner, Margaret; Gustafsson, Jan-Åke

    2005-01-01

    CYP7B1 is the enzyme responsible for hydroxylation and termination of the estrogenic actions of the androgen metabolite, 5α-androstane-3β, 17β-diol (3βAdiol). 3βAdiol is estrogenic in ERα or ERβ positive cells only if they do not express CYP7B1. In this study we show that female CYP7B1–/– mice experience early onset of growth of the uterus and mammary glands and commence estrus cycles 2 days earlier than their wild-type littermates. Adult mammary glands and uteri appear to be under continuous...

  1. Dissecting Allele Architecture of Early Onset IBD Using High-Density Genotyping.

    Directory of Open Access Journals (Sweden)

    David J Cutler

    Full Text Available The inflammatory bowel diseases (IBD are common, complex disorders in which genetic and environmental factors are believed to interact leading to chronic inflammatory responses against the gut microbiota. Earlier genetic studies performed in mostly adult population of European descent identified 163 loci affecting IBD risk, but most have relatively modest effect sizes, and altogether explain only ~20% of the genetic susceptibility. Pediatric onset represents about 25% of overall incident cases in IBD, characterized by distinct disease physiology, course and risks. The goal of this study is to compare the allelic architecture of early onset IBD with adult onset in population of European descent.We performed a fine mapping association study of early onset IBD using high-density Immunochip genotyping on 1008 pediatric-onset IBD cases (801 Crohn's disease; 121 ulcerative colitis and 86 IBD undetermined and 1633 healthy controls. Of the 158 SNP genotypes obtained (out of the 163 identified in adult onset, this study replicated 4% (5 SNPs out of 136 of the SNPs identified in the Crohn's disease (CD cases and 0.8% (1 SNP out of 128 in the ulcerative colitis (UC cases. Replicated SNPs implicated the well known NOD2 and IL23R. The point estimate for the odds ratio (ORs for NOD2 was above and outside the confidence intervals reported in adult onset. A polygenic liability score weakly predicted the age of onset for a larger collection of CD cases (p< 0.03, R2= 0.007, but not for the smaller number of UC cases.The allelic architecture of common susceptibility variants for early onset IBD is similar to that of adult onset. This immunochip genotyping study failed to identify additional common variants that may explain the distinct phenotype that characterize early onset IBD. A comprehensive dissection of genetic loci is necessary to further characterize the genetic architecture of early onset IBD.

  2. Working memory and FDG-PET dissociate early and late onset Alzheimer disease patients.

    Science.gov (United States)

    Kalpouzos, Grégoria; Eustache, Francis; de la Sayette, Vincent; Viader, Fausto; Chételat, Gaël; Desgranges, Béatrice

    2005-05-01

    The aims of this study were to determine the influence of the onset of Alzheimer's disease (AD) on 1) memory and cerebral glucose metabolism, 2) the relationships between cognitive performance and cerebral glucose metabolism. Brain metabolism was measured by 18FDG-PET in 12 early onset AD patients (age 65), with comparable mean MMSE scores. Working memory, semantic memory and episodic memory were assessed. Cognitivo-metabolic correlations (CMC) and complementary interregional correlations were performed in order to identify specific neurocognitive processes within each group. Both AD groups performed poorly on all tasks, except digit span in the late onset group. The early onset group performed more poorly than the late onset one on both the digit span and Brown-Peterson Paradigm (BPP) tasks. Temporo-parietal hypometabolism was found in both groups, the left hemisphere being more affected than the right, especially in the early onset patients, who also showed specific left frontal hypometabolism. For the BPP task, the CMC principally involved left frontal areas in the early onset group, and the cerebellum in the late onset one. For the digit span task, they involved cerebellar and occipital regions in the latter. Regarding the digit span, the occipital and cerebellar involvement may have reflected an effective compensatory mechanism in the late onset patients, while high left supramarginal gyrus hypometabolism in the early onset patients may have explained their failure in this task. In the BPP task, the lower performance of the early onset group may have been due to a frontal lobe dysfunction, as suggested by 1) the hypometabolism of this region, 2) the CMC results, 3) the interregional correlations, which indicated greater disruption of the antero- posterior loop.

  3. Whole Exome Analysis of Early Onset Alzheimer’s Disease

    Science.gov (United States)

    2015-04-01

    a potential modulator of Abeta toxicity), and NOTCH4 (a presenilin pathway gene). Exome chip results identified variants in MICA encoding the HLA-A...and 2+ Non-white Hispanic families, including the AD-relevant HLA-A (associated with earlier AD age-at-onset), CHST15 (a potential modulator or Abeta

  4. Synapse pathology and translational applications for schizophrenia.

    Science.gov (United States)

    Hayashi-Takagi, Akiko

    2017-01-01

    Schizophrenia is a chronic, severe, and disabling brain disorder, with an estimated lifetime prevalence of 0.7%. Despite its relatively low prevalence, the onset of schizophrenia usually occurs early in life, resulting in a severe lifelong disability for patients and increasing the economic and care burden on their families. This makes schizophrenia one of the most catastrophic mental illnesses. Although the etiology of schizophrenia remains poorly understood, clinical, genetic, and pharmacological studies have indicated that its pathophysiology involves synaptic disturbances. Here, I review the evidence suggesting synaptic disturbance as the causal pathophysiology of schizophrenia and discuss the possible application of synaptic intervention as a novel therapeutic strategy for schizophrenia. Copyright © 2016 Elsevier Ireland Ltd and Japan Neuroscience Society. All rights reserved.

  5. Parietal Lobes in Schizophrenia: Do They Matter?

    Science.gov (United States)

    Yildiz, Murat; Borgwardt, Stefan J.; Berger, Gregor E.

    2011-01-01

    Objective. Despite observations that abnormal parietal lobe (PL) function is associated with psychotic-like experiences, our knowledge about the nature of PL involvement in schizophrenia is modest. The objective of this paper is to investigate the role of the PL in schizophrenia. Method. Medline databases were searched for English language publications using the following key words: parietal lobe, combined with schizophrenia, lesions, epilepsy, cognition, rare genetic disorders, MRI, fMRI, PET, and SPECT, respectively, followed by cross-checking of references. Results. Imaging studies in childhood onset schizophrenia suggest that grey matter abnormalities start in parietal and occipital lobes and proceed to frontal regions. Although, the findings are inconsistent, several studies with patients at risk to develop schizophrenia indicate early changes in the PL. Conclusions. We want to propose that in a proportion of individuals with emerging schizophrenia structural and functional alterations may start in the PL and progress to frontal regions. PMID:22937268

  6. Motivational deficits in early schizophrenia: prevalent, persistent, and key determinants of functional outcome.

    Science.gov (United States)

    Fervaha, Gagan; Foussias, George; Agid, Ofer; Remington, Gary

    2015-08-01

    Negative symptoms, in particular motivational deficits, are reported as impediments to functional recovery in patients with schizophrenia. This study examined the prevalence of motivational deficits in patients early in the illness, and the impact these deficits have on community functioning. Patients with schizophrenia between the ages of 18 and 35years, and within 5years of initiating antipsychotic treatment were included in the present investigation (N=166). The impact of motivation and cognition on concurrent and longitudinal functioning was evaluated. Motivational impairments were found in more than 75% of participants, and were not associated with receipt of social support. These deficits served as the most robust and reliable predictor of functional outcome, while neurocognition demonstrated significantly weaker associations with outcome. When considered together, motivational deficits demonstrated a reliable link with concurrent and longitudinal functioning, with cognition not offering any independent predictive value. Moreover, motivation was found to mediate the relationship between cognition and outcome. Changes in motivation were linked to changes in functioning; however, this was not the case for changes in cognitive performance. Motivation emerged as a significant predictor of functioning even after selected demographic and clinical characteristics (e.g., positive symptoms) were accounted for. These data indicate that motivational deficits are prevalent in patients with schizophrenia, even in the early stages of the illness, and these deficits stand as one of the most robust barriers to people with schizophrenia achieving functional recovery. Greater understanding of the mechanisms underlying these deficits is critical to effective treatment innovation.

  7. Early Onset Optic Neuritis Following Measles-Rubella Vaccination

    Directory of Open Access Journals (Sweden)

    Siamak Moradian

    2008-12-01

    Full Text Available

    PURPOSE: To report two cases of optic neuritis with onset less than 24 hours following measles-rubella (MR vaccination. CASE REPORT: Two teenage patients developed acute optic neuritis 6 to 7 hours after MR booster vaccination. The first patient demonstrated bilateral papillitis and severe visual loss but improved significantly with pulse intravenous steroid therapy with methylprednisolone 500 mg/day. The second patient had unilateral retrobulbar optic neuritis and demonstrated excellent visual recovery without intervention. CONCLUSION: Acute optic neuritis is a rare complication of MR vaccination and may occur early after immunization.

  1. Conditioned blocking and schizophrenia: a replication and study of the role of symptoms, age, onset-age of psychosis and illness-duration.

    Science.gov (United States)

    Bender, S; Müller, B; Oades, R D; Sartory, G

    2001-04-15

    Measures of selective attention processing like latent inhibition (LI) and conditioned blocking (CB) are disturbed in some patients with schizophrenia. [LI is the delay in learning about the associations of a stimulus that has been associated with no event (versus de novo learning); CB is the delay in learning the associations of a stimulus-component when the other component has already started to acquire these associations.] We proposed: (1) to replicate the reported decreases of CB in patients without paranoid-hallucinatory symptoms; (2) to see if CB depends on the age of illness-onset and its duration, as reported for LI. We studied 101 young and old, acute and chronically ill patients with schizophrenia, of whom 62 learned a modified 'mouse-in-house' CB task, and compared them with 62 healthy controls matched for age, education and socio-economic background. CB was more evident in patients with a diagnosis of paranoid schizophrenia than other subtypes. An unusual persistence of high CB scores through testing was associated with productive symptoms (including positive thought disorder). Reduced CB related to the expression of (a) Schneider's first rank symptoms of ideas-of-reference and (b) to negative symptoms like poor rapport and poor attention. CB was less evident in the older patients and those with an earlier illness-onset. In contrast to the similar LI test of selective attention, CB is found in patients with paranoid schizophrenia and its expression is not related closely to illness duration. This implies that the two tests reflect the activity of different underlying processes. We suggest that reduced CB on initial test-trials in nonparanoid schizophrenia reflects the unusual persistence of controlled information processing strategies that would normally become automatic during conditioning. In contrast, continued CB during testing reflects an unusual persistence of automatic processing strategies.

  2. 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.

  3. 1:4 matched case-control study on influential factor of early onset neonatal sepsis.

    Science.gov (United States)

    Jiang, Z; Ye, G-Y

    2013-09-01

    Bacteria, funghi, viruses and protozoa can lead to neonatal sepsis. Neonatal sepsis is the leading cause of infectious disease onset and death in many neonates. To explore the major risk factors of early-onset neonatal sepsis and provide a scientific basis for strategies of early-onset neonatal sepsis prevention. A 1:4 matched case-control study was adopted and 147 cases of early-onset neonatal sepsis were enrolled. Conditional logistic regression model was used to analyze the univariate and multivariate data to estimate the odds ratio (OR) and the 95% confidence interval (95% CI). Univariate analysis shows that the impact factors on the occurrence of early-onset neonatal sepsis include the following: Maternal age > 35, mother having fixed occupation, mother of urban residence, abnormal fetal position, fetal times, parity, caesarean section, premature rupture of membranes, amniotic fluid volume abnormalities, pregnancy-induced hypertension, placental abnormalities, fetal distress, newborn gender, low birth weight infants, neonatal Apgar scoring at one and five minutes, neonatal jaundice, wet lung, anemia, IVH, and premature infant. Multivariate logistic regression analysis showed that maternal age > 35 (OR = 4.835, OR 95% CI = 1.170-19.981), cesarean section (OR = 0.103, OR 95% CI = 0.041-0.258), premature rupture of membranes (OR = 0.207, OR 95% CI = 0.078-0.547), premature infants (OR = 0.059, OR 95% CI = 0.010-0.329) and newborn jaundice (OR = 0.092, OR 95% CI = 0.021-0.404) were the factors of early-onset neonatal sepsis. Early-onset neonatal sepsis could be affected by multi-factors, and targeted prevention may reduce the incidence of early-onset neonatal sepsis rates.

  4. Responses to Tobacco Smoking-Related Health Messages in Young People With Recent-Onset Schizophrenia.

    Science.gov (United States)

    Coletti, Daniel J; Brunette, Mary; John, Majnu; Kane, John M; Malhotra, Anil K; Robinson, Delbert G

    2015-11-01

    Virtually no research has examined the responses of youth with recent-onset psychosis (ROP) to smoking-related health warnings. We examined predictors of response and tested hypotheses that participants with ROP would (a) assess warnings as less effective than a healthy comparison (HC) group, and (b) assess video warnings as more effective than pictures. ROP participants (n = 69) had smoking knowledge. We assessed response at baseline and at 4-week follow-up. ROP participants were more likely than HC to smoke tobacco (49.3% vs 10.1%) and had lower levels of health literacy and smoking-related knowledge. Cannabis was used by 46.4% of ROP participants. Effectiveness ratings were high for both picture and video warnings with no differences between media. ROP participants compared to HC and nonsmokers compared to smokers were more likely to perceive warnings as effective. Effectiveness was associated with negative affect and greater emotional arousal. We assessed 33 smokers at follow-up; 5 (15%) identified as nonsmokers, 15 (45%) made a quit attempt, and 16 (49%) reported that the warnings influenced their smoking. Results indicate that young people with psychotic disorders respond favorably to health warnings. Effective messages depict health consequences clearly, elicit negative emotions, and may impact smoking behavior. Future research is needed to understand the effects of mode of presentation and message comprehension on smoking behavior.

  5. Are early-onset cannabis smokers at an increased risk of depression spells?

    Science.gov (United States)

    Fairman, Brian J; Anthony, James C

    2012-04-01

    A recent research focus is a set of hypothesized adult-onset mental health disturbances possibly due to early-onset cannabis use (EOCU, onset depression spell during adulthood, with comparisons to never cannabis smokers and those with delayed cannabis onset (i.e., not starting to smoke cannabis until adulthood). The National Surveys on Drug Use and Health (NSDUH) assess non-institutionalized community-dwelling residents of the United States after probability sampling each year. In aggregate, the NSDUH analytical sample included 173,775 adult participants from survey years 2005-2009 (74-76% of designated respondents). Standardized computer-assisted interviews collected information on background determinants, age of first cannabis use, and depression spell onset. Logistic regression was used to estimate EOCU-depression spell associations in the form of odds ratios, with statistical adjustment for sex, age, race/ethnicity, years of cannabis involvement, tobacco cigarette onset, and alcohol onset. About 1 in 10 experienced a depression spell during adulthood, and both early-onset and adult-onset cannabis smokers had a modest excess odds of a depression spell compared to never cannabis smokers, even with covariate adjustment (OR=1.7 and 1.8, respectively; both pcannabis smokers did not statistically differ from one another. Shared diathesis that might influence both EOCU and adult-onset depression spell is controlled no more than partially, as will be true until essentially all known early-life shared vulnerabilities are illuminated. Cannabis smoking initiated at any age signals a modest increased risk of a spell of depression in adulthood, even when adjusted for suspected confounding variables studied here. Delaying cannabis onset until adulthood does not appear to diminish the cannabis-associated risk. Copyright © 2011 Elsevier B.V. All rights reserved.

  6. 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.

  7. A case of early-onset radiation retinopathy

    Energy Technology Data Exchange (ETDEWEB)

    Sato, Yoko; Den, Seika; Shimizu, Kazuhiro; Ikeda, Tsunehiko [Osaka Medical Coll., Takatsuki (Japan)

    2001-12-01

    We encountered a 27-year-old male early caused by radiation retinopathy five months after radiotherapy (51 Gy) for astrocytoma. The retinopathy was the proliferative retinopathy, with several dot and blot hemorrhages, hard and soft exudate, increased capillary permeability, macula edema and avasucular areas. So it was treated with panretial photocoagulation like diabetic retinopathy. Now hemorrhage, exudate, edema and avascular areas were improved. Photocoagulation treatment is effective to stop the progression of radiation retinopathy. Radiation retinopathy is sometimes early caused, therefore long-term follow up is recommended on starting radiotherapy. (author)

  8. Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21.

    Science.gov (United States)

    Yan, W L; Guan, X Y; Green, E D; Nicolson, R; Yap, T K; Zhang, J; Jacobsen, L K; Krasnewich, D M; Kumra, S; Lenane, M C; Gochman, P; Damschroder-Williams, P J; Esterling, L E; Long, R T; Martin, B M; Sidransky, E; Rapoport, J L; Ginns, E I

    2000-12-04

    Childhood-onset schizophrenia (COS) is defined by the development of first psychotic symptoms by age 12. While recruiting patients with COS refractory to conventional treatments for a trial of atypical antipsychotic drugs, we discovered a unique case who has a familial t(1;7)(p22;q21) reciprocal translocation and onset of psychosis at age 9. The patient also has symptoms of autistic disorder, which are usually transient before the first psychotic episode among 40-50% of the childhood schizophrenics but has persisted in him even after the remission of psychosis. Cosegregating with the translocation, among the carriers in the family available for the study, are other significant psychopathologies, including alcohol/drug abuse, severe impulsivity, and paranoid personality and language delay. This case may provide a model for understanding the genetic basis of schizophrenia or autism. Here we report the progress toward characterization of genomic organization across the translocation breakpoint at 7q21. The polymorphic markers, D7S630/D7S492 and D7S2410/D7S646, immediately flanking the breakpoint, may be useful for further confirming the genetic linkage for schizophrenia or autism in this region. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:749-753, 2000. Published 2000 Wiley-Liss, Inc.

  9. Preventive pharmacological treatment --an evolving new concept in schizophrenia.

    Science.gov (United States)

    Sabbag, Rony; Levin, Raz; Edelman, Shany; Heresco-Levy, Uriel

    2011-01-01

    Treatment for schizophrenia remains one of the major challenges of modern medicine. The development of innovative pharmacological approaches for this disorder can potentially alleviate tremendous human suffering and revolutionize mental health delivery systems. While current treatment guidelines for schizophrenia refer to the post-psychosis onset phase of illness, presently there is a strong resurgent interest in secondary prevention intervention applied during schizophrenia prodrome. This development stems largely from the recognition that neurobiological deficit processes associated with schizophrenia severity and chronicity are already active by the time clinical onset is recognized. Proposed preventive treatments include presently used medications and experimental compounds that hypothetically may influence ongoing pathophysiological processes earlier in their development. The future establishment of the early recognition and intervention concept in schizophrenia is critically dependent on the outcome of ongoing research assessing the feasibility of prodrome diagnosis, the efficacy of specific medications and the alleviation of the risks associated with early pharmacological treatment.

  10. Increased Genetic Vulnerability to Smoking at CHRNA5 in Early-Onset Smokers

    Science.gov (United States)

    Hartz, Sarah M.; Short, Susan E.; Saccone, Nancy L.; Culverhouse, Robert; Chen, LiShiun; Schwantes-An, Tae-Hwi; Coon, Hilary; Han, Younghun; Stephens, Sarah H.; Sun, Juzhong; Chen, Xiangning; Ducci, Francesca; Dueker, Nicole; Franceschini, Nora; Frank, Josef; Geller, Frank; Guđbjartsson, Daniel; Hansel, Nadia N.; Jiang, Chenhui; Keskitalo-Vuokko, Kaisu; Liu, Zhen; Lyytikäinen, Leo-Pekka; Michel, Martha; Rawal, Rajesh; Hum, Sc; Rosenberger, Albert; Scheet, Paul; Shaffer, John R.; Teumer, Alexander; Thompson, John R.; Vink, Jacqueline M.; Vogelzangs, Nicole; Wenzlaff, Angela S.; Wheeler, William; Xiao, Xiangjun; Yang, Bao-Zhu; Aggen, Steven H.; Balmforth, Anthony J.; Baumeister, Sebastian E.; Beaty, Terri; Bennett, Siiri; Bergen, Andrew W.; Boyd, Heather A.; Broms, Ulla; Campbell, Harry; Chatterjee, Nilanjan; Chen, Jingchun; Cheng, Yu-Ching; Cichon, Sven; Couper, David; Cucca, Francesco; Dick, Danielle M.; Foroud, Tatiana; Furberg, Helena; Giegling, Ina; Gu, Fangyi; Hall, Alistair S.; Hällfors, Jenni; Han, Shizhong; Hartmann, Annette M.; Hayward, Caroline; Heikkilä, Kauko; Lic, Phil; Hewitt, John K.; Hottenga, Jouke Jan; Jensen, Majken K.; Jousilahti, Pekka; Kaakinen, Marika; Kittner, Steven J.; Konte, Bettina; Korhonen, Tellervo; Landi, Maria-Teresa; Laatikainen, Tiina; Leppert, Mark; Levy, Steven M.; Mathias, Rasika A.; McNeil, Daniel W.; Medland, Sarah E.; Montgomery, Grant W.; Muley, Thomas; Murray, Tanda; Nauck, Matthias; North, Kari; Pergadia, Michele; Polasek, Ozren; Ramos, Erin M.; Ripatti, Samuli; Risch, Angela; Ruczinski, Ingo; Rudan, Igor; Salomaa, Veikko; Schlessinger, David; Styrkársdóttir, Unnur; Terracciano, Antonio; Uda, Manuela; Willemsen, Gonneke; Wu, Xifeng; Abecasis, Goncalo; Barnes, Kathleen; Bickeböller, Heike; Boerwinkle, Eric; Boomsma, Dorret I.; Caporaso, Neil; Duan, Jubao; Edenberg, Howard J.; Francks, Clyde; Gejman, Pablo V.; Gelernter, Joel; Grabe, Hans Jörgen; Hops, Hyman; Jarvelin, Marjo-Riitta; Viikari, Jorma; Kähönen, Mika; Kendler, Kenneth S.; Lehtimäki, Terho; Levinson, Douglas F.; Marazita, Mary L.; Marchini, Jonathan; Melbye, Mads; Mitchell, Braxton D.; Murray, Jeffrey C.; Nöthen, Markus M.; Penninx, Brenda W.; Raitakari, Olli; Rietschel, Marcella; Rujescu, Dan; Samani, Nilesh J.; Sanders, Alan R.; Schwartz, Ann G.; Shete, Sanjay; Shi, Jianxin; Spitz, Margaret; Stefansson, Kari; Swan, Gary E.; Thorgeirsson, Thorgeir; Völzke, Henry; Wei, Qingyi; Wichmann, H.-Erich; Amos, Christopher I.; Breslau, Naomi; Cannon, Dale S.; Ehringer, Marissa; Grucza, Richard; Hatsukami, Dorothy; Heath, Andrew; Johnson, Eric O.; Kaprio, Jaakko; Madden, Pamela; Martin, Nicholas G.; Stevens, Victoria L.; Stitzel, Jerry A.; Weiss, Robert B.; Kraft, Peter; Bierut, Laura J.

    2012-01-01

    Context Recent studies have shown an association between cigarettes per day (CPD) and a nonsynonymous single-nucleotide polymorphism in CHRNA5, rs16969968. Objective To determine whether the association between rs16969968 and smoking is modified by age at onset of regular smoking. Data Sources Primary data. Study Selection Available genetic studies containing measures of CPD and the genotype of rs16969968 or its proxy. Data Extraction Uniform statistical analysis scripts were run locally. Starting with 94 050 ever-smokers from 43 studies, we extracted the heavy smokers (CPD >20) and light smokers (CPD ≤10) with age-at-onset information, reducing the sample size to 33 348. Each study was stratified into early-onset smokers (age at onset ≤16 years) and late-onset smokers (age at onset >16 years), and a logistic regression of heavy vs light smoking with the rs16969968 genotype was computed for each stratum. Meta-analysis was performed within each age-at-onset stratum. Data Synthesis Individuals with 1 risk allele at rs16969968 who were early-onset smokers were significantly more likely to be heavy smokers in adulthood (odds ratio [OR]=1.45; 95% CI, 1.36–1.55; n=13 843) than were carriers of the risk allele who were late-onset smokers (OR = 1.27; 95% CI, 1.21–1.33, n = 19 505) (P = .01). Conclusion These results highlight an increased genetic vulnerability to smoking in early-onset smokers. PMID:22868939

  11. Neuropsychological and functional outcomes in recent-onset major depression, bipolar disorder and schizophrenia-spectrum disorders: a longitudinal cohort study

    Science.gov (United States)

    Lee, R S C; Hermens, D F; Naismith, S L; Lagopoulos, J; Jones, A; Scott, J; Chitty, K M; White, D; Robillard, R; Scott, E M; Hickie, I B

    2015-01-01

    Functional disability is the lead contributor to burden of mental illness. Cognitive deficits frequently limit functional recovery, although whether changes in cognition and disability are longitudinally associated in recent-onset individuals remains unclear. Using a prospective, cohort design, 311 patients were recruited and assessed at baseline. One hundred and sixty-seven patients met eligibility criteria (M=21.5 years old, s.d.=4.8) and returned for follow-up (M=20.6 months later, s.d.=7.8). Two-hundred and thirty participants were included in the final analysis, comprising clinically stable patients with major depression (n=71), bipolar disorder (BD; n=61), schizophrenia-spectrum disorders (n=35) and 63 healthy controls. Neuropsychological functioning and self-rated functional disability were examined using mixed-design, repeated-measures analysis, across diagnoses and cognitive clusters, covarying for relevant confounds. Clinical, neuropsychological and functional changes did not differ between diagnoses (all P>0.05). Three reliable neuropsychological subgroups emerged through cluster analysis, characterized by psychomotor slowing, improved sustained attention, and improved verbal memory. Controlling for diagnosis and changes in residual symptoms, clusters with improved neuropsychological functioning observed greater reductions in functional disability than the psychomotor slowing cluster, which instead demonstrated a worsening in disability (P<0.01). Improved sustained attention was independently associated with greater likelihood of follow-up employment (P<0.01). Diagnosis of BD uniquely predicted both follow-up employment and independent living. Neuropsychological course appears to be independently predictive of subjective and objective functional outcomes. Importantly, cognitive phenotypes may reflect distinct pathophysiologies shared across major psychiatric conditions, and be ideal targets for personalized early intervention. PMID:25918992

  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. Preliminary findings demonstrating latent effects of early adolescent marijuana use onset on cortical architecture

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    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.

  14. 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

  15. Early-Onset Chronic Inflammatory Disease Associated with Maternal Microchimerism

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    Tomoaki Ishikawa

    2012-01-01

    Full Text Available Maternal microchimerism (mMc refers to the presence of a small population of cells originating from the mother. Whether mMc leads to autoimmune responses in children remains controversial. We describe here an 11-year-old boy with persistent fever and elevated levels of C-reactive protein from infancy onward. During infancy, the patient presented with high fever, skin rashes, and hepatic dysfunction. Careful examination including a liver biopsy failed to reveal the cause. At 4 years old, petechiae developed associated with thrombocytopenia and positive anti-dsDNA autoantibodies. Steroid pulse therapy was effective, but the effect of low-dose prednisone was insufficient. At age 9, an extensive differential diagnosis was considered especially for infantile onset autoinflammatory disorders but failed to make a definitive diagnosis. On admission, the patient exhibited short stature, hepatosplenomegaly, generalized superficial lymphadenopathy, and rashes. Laboratory findings revealed anemia, elevated levels of inflammation markers, and hypergammaglobulinemia. Serum complement levels were normal. Serum levels of IL-6 and B-cell activating factor were elevated. Viral infections were not identified. Although HLA typing revealed no noninherited maternal antigens in lymphocytes, female cells were demonstrated in the patient’s skin and lymph nodes, suggesting that maternal microchimerism might be involved in the pathogenesis of fever without source in infants.

  16. Early Onset of Laying and Bumblefoot Favor Keel Bone Fractures

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    Sabine G. Gebhardt-Henrich

    2015-11-01

    Full Text Available Numerous studies have demonstrated influences of hybrid, feed, and housing on prevalence of keel bone fractures, but influences of behavior and production on an individual level are less known. In this longitudinal study, 80 white and brown laying hens were regularly checked for keel bone deviations and fractures while egg production was individually monitored using Radio Frequency Identification (RFID from production until depopulation at 65 weeks of age. These focal birds were kept in eight pens with 20 hens per pen in total. About 62% of the hens had broken keel bones at depopulation. The occurrence of new fractures was temporally linked to egg laying: more new fractures occurred during the time when laying rates were highest. Hens with fractured keel bones at depopulation had laid their first egg earlier than hens with intact keel bones. However, the total number of eggs was neither correlated with the onset of egg laying nor with keel bone fractures. All birds with bumblefoot on both feet had a fracture at depopulation. Hens stayed in the nest for a longer time during egg laying during the ten days after the fracture than during the ten days before the fracture. In conclusion, a relationship between laying rates and keel bone fractures seems likely.

  17. Early Onset of Laying and Bumblefoot Favor Keel Bone Fractures.

    Science.gov (United States)

    Gebhardt-Henrich, Sabine G; Fröhlich, Ernst K F

    2015-11-27

    Numerous studies have demonstrated influences of hybrid, feed, and housing on prevalence of keel bone fractures, but influences of behavior and production on an individual level are less known. In this longitudinal study, 80 white and brown laying hens were regularly checked for keel bone deviations and fractures while egg production was individually monitored using Radio Frequency Identification (RFID) from production until depopulation at 65 weeks of age. These focal birds were kept in eight pens with 20 hens per pen in total. About 62% of the hens had broken keel bones at depopulation. The occurrence of new fractures was temporally linked to egg laying: more new fractures occurred during the time when laying rates were highest. Hens with fractured keel bones at depopulation had laid their first egg earlier than hens with intact keel bones. However, the total number of eggs was neither correlated with the onset of egg laying nor with keel bone fractures. All birds with bumblefoot on both feet had a fracture at depopulation. Hens stayed in the nest for a longer time during egg laying during the ten days after the fracture than during the ten days before the fracture. In conclusion, a relationship between laying rates and keel bone fractures seems likely.

  18. Early-onset gastric cancer: Learning lessons from the young

    OpenAIRE

    Milne, A. N.; Offerhaus, G J A

    2010-01-01

    There is by no means a clear-cut pattern of mutations contributing to gastric cancers, and gastric cancer research can be hampered by the diversity of factors that can induce gastric cancer, such as Helicobacter pylori infection, diet, ageing and other environmental factors. Tumours are unquestionably riddled with genetic changes yet we are faced with an unsolvable puzzle with respect to a temporal relationship. It is postulated that inherited genetic factors may be more important in early-on...

  19. Auditory change detection in schizophrenia: sources of activity, related neuropsychological function and symptoms in patients with a first episode in adolescence, and patients 14 years after an adolescent illness-onset

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    Sachsse Jan

    2006-02-01

    Full Text Available Abstract Background The event-related brain response mismatch negativity (MMN registers changes in auditory stimulation with temporal lobe sources reflecting short-term echoic memory and frontal sources a deviance-induced switch in processing. Impairment, controversially present at the onset of schizophrenia, develops rapidly and can remain independent of clinical improvement. We examined the characteristics of the scalp-recorded MMN and related these to tests of short-term memory and set-shifting. We assessed whether the equivalent dipole sources are affected already at illness-onset in adolescence and how these features differ after a 14-year course following an adolescent onset. The strength, latency, orientation and location of frontal and temporal lobe sources of MMN activity early and late in the course of adolescent-onset schizophrenia are analysed and illustrated. Methods MMN, a measure of auditory change-detection, was elicited by short deviant tones in a 3-tone oddball-presentation and recorded from 32 scalp electrodes. Four dipole sources were placed following hypothesis-led calculations using brain electrical source analysis on brain atlas and MR-images. A short neuropsychological test battery was administered. We compared 28 adolescent patients with a first episode of schizophrenia and 18 patients 14 years after diagnosis in adolescence with two age-matched control groups from the community (n = 22 and 18, respectively. Results MMN peaked earlier in the younger than the older subjects. The amplitude was reduced in patients, especially the younger group, and was here associated with negative symptoms and slow set-shifting. In first-episode patients the temporal lobe sources were more ventral than in controls, while the left cingular and right inferior-mid frontal sources were more caudal. In the older patients the left temporal locus remained ventral (developmental stasis, the right temporal locus extended more antero

  20. Structural neurobiological correlates of Mayer-Salovery-Caruso Emotional Intelligence Test performance in early course schizophrenia.

    Science.gov (United States)

    Wojtalik, Jessica A; Eack, Shaun M; Keshavan, Matcheri S

    2013-01-10

    The Mayer-Salovey-Caruso Emotional Intelligence Test (MSCEIT) is a key measure of social cognition in schizophrenia that has good psychometric properties and is recommended by the MATRICS committee. As a way to further investigate the validity of the MSCEIT, this study sought to examine the neurobiological correlates of MSCEIT performance in patients with early course schizophrenia. A total of 51 patients diagnosed with early course, stabilized schizophrenia or schizoaffective disorder completed structural magnetic resonance imaging (MRI) scans and the MSCEIT. Investigation of the associations between MSCEIT performance and gray matter morphology was examined by conducting voxel-based morphometry (VBM) analyses across hypothesized social-cognitive regions of interest using automated anatomical labeling in Statistical Parametric Mapping Software, version 5 (SPM5). All VBM analyses utilized general linear models examining gray matter density partitioned images, adjusting for demographic and illness-related confounds. VBM results were then followed up with confirmatory volumetric analyses. Patients with poorer overall and Facilitating, Understanding, and Managing Emotions subscale performances on the MSCEIT showed significantly reduced gray matter density in the left parahippocampal gyrus. Additionally, attenuated performance on the Facilitating and Managing Emotions subscales was significantly associated with reduced right posterior cingulate gray matter density. All associations observed between MSCEIT performance and gray matter density were supported with confirmatory gray matter volumetric analyses, with the exception of the association between the right posterior cingulate and the facilitation of emotions. These findings provide additional evidence for the MSCEIT as a valid social-cognitive measure by elucidating its correlates with neurobiological structures commonly implicated in emotion processing. These findings provide additional biological evidence

  1. The role of temperament in the relationship between early onset of tobacco and cannabis use: The TRAILS study

    NARCIS (Netherlands)

    Creemers, H.E.; Korhonen, T.; Kaprio, J; Vollebergh, W.A.M.; Ormel, J.; Verhulst, F.C.; Huizink, A.C.

    2009-01-01

    Background: While temperamental characteristics have been related to the onset of cannabis use, it is not clear at what point(s) along the trajectory from early onset of tobacco use (EOT) to early onset of cannabis use (EOC) these characteristics exert their impact. This study examined if (1) temper

  2. The role of temperament in the relationship between early onset of tobacco and cannabis use : The TRAILS study

    NARCIS (Netherlands)

    Creemers, Hanneke E.; Korhonen, Tellervo; Kaprio, Jaakko; Vollebergh, Wilma A. M.; Ormel, Johan; Verhulst, Frank C.; Huizink, Anja C.

    2009-01-01

    Background: While temperamental characteristics have been related to the onset of cannabis use, it is not clear at what point(s) along the trajectory from early onset of tobacco use (EOT) to early onset of cannabis use (EOC) these characteristics exert their impact. This study examined if (1) temper

  3. Differences between early and late-onset Alzheimer's disease in neuropsychological tests.

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    Francisca eSá

    2012-05-01

    Full Text Available Although patients with Alzheimer disease (AD share clinical and histological features regardless of age of onset, the hypothesis that early-onset AD constitutes a distinct subgroup prevails. Some authors suggest that early attention or language impairment constitute patterns of differentiation in terms of neuropsychological profile. However, investigations are not consensual in terms of cognitive domains affected in each group.Aim: To investigate whether there is early neuropsychological difference between two types of AD using the conventional dividing line of 65 years.Methods: We evaluated the results obtained in the Mini-Mental State Examination (MMSE and in a comprehensive neuropsychological battery – Battery of Lisbon for the Assessment of Dementia (BLAD, at a Dementia clinic in the University Hospital of Coimbra and a Memory Clinic. Consecutive patients with a clinical probable diagnosis of mild to moderate AD, using standard criteria (DSMIV and NINCDS-ADRDA, were selected. Statistical analysis was performed using Qui-square and U-Mann-Whitney, for categorical and non-categorical variables.Results: The sample included 280 patients: 109 with early-onset AD and 171 with a late-onset form. Groups were comparable in gender, education, severity of disease and MMSE. In BLAD, the early onset group had lower scores in Naming (p=0,025, Right-Left Orientation (p=0,029 and Praxis (p=0,001, and better performances in Orientation (p=0,001 and Visual Memory (p=0,022. After application of Bonferroni correction for multiple comparisons only Praxis and Orientation could differentiate the two groups.Discussion: The results are suggestive of dissociated profiles between early and late-onset AD. Younger patients have a major impairment in Praxis and a tendency for a great impairment in neocortical temporal functions. Late-onset form had a tendency for worse performances in Visual Memory and Orientation, suggesting a more localized disease to the limbic

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

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    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. Converging approaches to understanding early onset familial Alzheimer disease: A First Nation study

    Science.gov (United States)

    Cabrera, Laura Y; Beattie, B Lynn; Dwosh, Emily; Illes, Judy

    2015-01-01

    Objectives: In 2007, a novel pathogenic genetic mutation associated with early onset familial Alzheimer disease was identified in a large First Nation family living in communities across British Columbia, Canada. Building on a community-based participatory study with members of the Nation, we sought to explore the impact and interplay of medicalization with the Nation’s knowledge and approaches to wellness in relation to early onset familial Alzheimer disease. Methods: We performed a secondary content analysis of focus group discussions and interviews with 48 members of the Nation between 2012 and 2013. The analysis focused specifically on geneticization, medicalization, and traditional knowledge of early onset familial Alzheimer disease, as these themes were prominent in the primary analysis. Results: We found that while biomedical explanations of disease permeate the knowledge and understanding of early onset familial Alzheimer disease, traditional concepts about wellness are upheld simultaneously. Conclusion: The analysis brings the theoretical framework of “two-eyed seeing” to the case of early onset familial Alzheimer disease for which the contributions of different ways of knowing are embraced, and in which traditional and western ways complement each other on the path of maintaining wellness in the face of progressive neurologic disease. PMID:27092264

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

    Science.gov (United States)

    Leite, Rafaela Torres Portugal; Nogueira, Sarah de Oliveira; do Nascimento, João Paulo Rodrigues; de Lima, Laisa Soares; da Nóbrega, Taís Bastos; Virgínio, Mariana da Silva; Moreno, Lucas Monte da Costa; Sampaio, Bruno Henrique Barbosa; Souza, Fábio Gomes de Matos e

    2015-01-01

    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. PMID:26097750

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

    Science.gov (United States)

    Leite, Rafaela Torres Portugal; Nogueira, Sarah de Oliveira; do Nascimento, João Paulo Rodrigues; de Lima, Laisa Soares; da Nóbrega, Taís Bastos; Virgínio, Mariana da Silva; Moreno, Lucas Monte da Costa; Sampaio, Bruno Henrique Barbosa; de Matos E Souza, Fábio Gomes

    2015-01-01

    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.

  8. Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia.

    Science.gov (United States)

    Spada, Marco; Calvo, Pier Luigi; Brunati, Andrea; Peruzzi, Licia; Dell'Olio, Dominic; Romagnoli, Renato; Porta, Francesco

    2015-07-01

    With conventional dietary treatment, the clinical course of methylmalonic acidemia due to cobalamin-unresponsive methylmalonyl-CoA mutase (MCM) deficiency is characterized by the persistent risk of recurrent life-threatening decompensation episodes with metabolic acidosis, hyperammonemia, and coma. Liver transplant has been proposed as an alternative treatment and anecdotally attempted in the last 2 decades with inconsistent results. Most criticisms of this approach have been directed at the continuing risk of neurologic and renal damage after transplant. Here, we report the perioperative and postoperative clinical and biochemical outcomes of 2 patients with severe MCM deficiency who underwent early liver transplant. In both cases, liver transplant allowed prevention of decompensation episodes, normalization of dietary protein intake, and a marked improvement of quality of life. No serious complications have been observed at 12 years' and 2 years' follow-up, respectively, except for mild kidney function impairment in the older patient. On the basis of our experience, we strongly suggest that liver transplant should be offered as a therapeutic option for children with cobalamin-unresponsive MCM deficiency at an early stage of the disease.

  9. PREVALENCE AND SUSCEPTIBILITY PATTERN OF E. COLI IN LOW BIRTH WEIGHT NEONATES OF EARLY ONSET SEPSIS

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    R. Singh et al.

    2011-12-01

    Full Text Available Neonatal sepsis is one of the commonest cause of neonatal mortality in the developing world which can be classified into early onset sepsis (EOS which occurs in the first 7 days of life and late onset sepsis (LOS which occurs ≥7 days of life. E. coli has been reported to be one of the significant and most common nosocomial pathogen which may cause septicemia, pneumonia and meningitis in the newborn. Most of the antibiotics which have been used extensively as life saving are rendered useless because of the emergence of resistant strains of bacterias. Therefore for determining the prevalence and antimicrobial susceptibility pattern of E. coli which is responsible for EOS and LOS and to establish the relationship with birth weight, a total of 229 blood samples were obtained from the neonates admitted to neonatal intensive care unit (NICU who showed the clinical signs and symptoms of neonatal sepsis and sent for culture and sensitivity. Out of these 229, 102 showed the positive culture, among which early onset sepsis was found in 80 neonates while late onset sepsis was diagnosed in 22 neonates. The most frequent pathogen isolated from positive blood culture was E. coli (66.66% and it was also the most common pathogen in low birth weight and preterm neonates of both early (59 cases- 57.84% and late-onset (9 cases- 8.82% sepsis and the incidence was found higher in early onset sepsis. The isolate was completely resistant to vancomycin and the resistance was higher for monotherapy of semi-synthetic penicillin group of antibiotics than their combination therapy with sulbactum. Imepenam and gatifloxacin showed the highest sensitivity (100%, followed by Piperacillin - tazobactum and ciprofloxacin, however the frequency of resistance was more common in low birth weight neonates of early onset sepsis.

  10. Early onset primary pulmonary cryptococcosis in a renal transplant patient

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    Tarai B

    2010-01-01

    Full Text Available We report a case of primary pulmonary cryptococcosis in a post-renal transplant patient. A 65-year-old male renal transplant patient was admitted to the hospital with a low grade fever of 1 month, radiologically mimicking tuberculosis (TB. Broncho-alveolar fluid (BAL shows capsulated yeast, and Cryptococcus neoformans was grown on culture supported by cytology and histopathological examination. Cryptococcal antigen was positive (32-fold in serum and was negative in cerebrospinal fluid (CSF. The patient was given amphotericin B and 5-flucytosine and clinical improvement was seen on a weekly follow up. The serum cryptococcal antigen test might contribute to the early detection and treatment of pulmonary cryptococcosis. The results of antifungal susceptibility were aid in selecting the drug of choice for treatment.

  11. Pantoea species causing early onset neonatal sepsis: a case report.

    Science.gov (United States)

    Tiwari, Shreekant; Beriha, Siba Shankar

    2015-09-04

    Pantoea agglomerans is a plant pathogen which very rarely causes an opportunistic infection. Human beings are usually infected by thorn prick injuries or by contaminated parenteral fluids. Pantoea agglomerans has been reported as a cause of neonatal sepsis very rarely and to the best of our knowledge this is the first reported case from India. A 4-day-old Asian baby boy from the rural area of Odisha, India, was admitted to our neonatal intensive care unit when he presented with fever, tachypnea and chest retraction. Pantoea species were isolated from his blood culture. He was treated successfully with meropenem administered intravenously and other supportive measures. Early detection and proper management may cause a favorable outcome.

  12. The relationship between Asperger's syndrome and schizophrenia in adolescence.

    Science.gov (United States)

    Waris, Petra; Lindberg, Nina; Kettunen, Kirsi; Tani, Pekka

    2013-04-01

    Asperger's syndrome (AS), a pervasive developmental disorder (PDD), has nowadays been widely advocated in media. Therefore, psychiatrists treating adolescents frequently meet patients as well as their families reporting of symptoms resembling those of Asperger's syndrome. It is known that symptoms of Asperger's syndrome have some overlap with those of schizophrenia, but less is known about comorbidity between these two syndromes. We describe a sample of 18 adolescents with early onset schizophrenia. Diagnosis of schizophrenia was based on assessment with Kiddie Schedule for Affective Disorders and Schizophrenia. The diagnostic interview for Social and Communication Disorders version 11 was used to assess autism spectrum disorders. Ten adolescents fulfilled symptom criteria of Asperger's syndrome after the onset of schizophrenia, while only two persons had Asperger's syndrome before the onset of schizophrenia, a prerequisite for diagnosis. 44% of the adolescents fulfilled the diagnosis of some PDD in childhood. Most of them were, however, unrecognized before the onset of schizophrenia. On the other hand, all 18 patients had one or more symptoms of PDDS in adolescence. Adolescents with schizophrenia have often symptoms consistent with AS, although only few of them have fulfilled the diagnostic criteria in their childhood, a prerequisite for the diagnosis of AS. There is a risk for misdiagnosis of adolescents with autistic symptoms if detailed longitudinal anamnesis is not obtained.

  13. Component structure of the Positive And Negative Syndrome Scale (PANSS) in patients with recent-onset schizophrenia and spectrum disorders

    NARCIS (Netherlands)

    Wolthaus, JED; Dingemans, PMAJ; Schene, AH; Linszen, DH; Knegtering, H; Holthausen, EAE; Cahn, W; Hijman, R

    2000-01-01

    Rationale: Earlier studies have examined the symptom dimensions of the PANSS (Positive And Negative Syndrome Scale) in patients with chronic schizophrenia. Results have suggested that three to eight component solutions best explain underlying symptom dimensions. Objectives: To examine the component

  14. Subunit and whole molecule specificity of the anti-bovine casein immune response in recent onset psychosis and schizophrenia

    NARCIS (Netherlands)

    Severance, E.G.; Dickerson, F.B.; Halling, M.; Krivogorsky, B.; Haile, L.; Yang, S.; Stallings, C.R.; Origoni, A.E.; Bossis, I.; Xiao, J.; Dupont, D.; Haasnoot, W.; Yolken, R.H.

    2010-01-01

    Previous studies show increased antibody levels to bovine casein in some individuals with schizophrenia. The immunogenicity of specific domains of bovine casein varies among people with milk sensitivities and thus could vary among different neuropsychiatric disorders. Using ELISAs and immunoblotting

  15. Limbic structures and networks in children and adolescents with schizophrenia.

    Science.gov (United States)

    White, Tonya; Cullen, Kathryn; Rohrer, Lisa Michelle; Karatekin, Canan; Luciana, Monica; Schmidt, Marcus; Hongwanishkul, Donaya; Kumra, Sanjiv; Charles Schulz, S; Lim, Kelvin O

    2008-01-01

    Studies of adults with schizophrenia provide converging evidence for abnormalities in the limbic system. Limbic structures that show consistent patient/control differences in both postmortem and neuroimaging studies include the anterior cingulate and hippocampus, although differences in the amygdala, parahippocampal gyrus, and fornix have also been observed. Studies of white matter in children and adolescents with schizophrenia tend to show findings that are more focal than those seen in adults. Interestingly, these focal abnormalities in early-onset schizophrenia tend to be more localized to limbic regions. While it is unclear if these early limbic abnormalities are primary in the etiology of schizophrenia, there is evidence that supports a developmental progression with early limbic abnormalities evolving over time to match the neuroimaging profiles seen in adults with schizophrenia. Alternatively, the aberrations in limbic structures may be secondary to a more widespread or global pathological processes occurring with the brain that disrupt neural transmission. The goal of this article is to provide a review of the limbic system and limbic network abnormalities reported in children and adolescents with schizophrenia. These findings are compared with the adult literature and placed within a developmental context. These observations from neuroimaging studies enrich our current understanding of the neurodevelopmental model of schizophrenia and raise further questions about primary vs secondary processes. Additional research within a developmental framework is necessary to determine the putative etiologic roles for limbic and other brain abnormalities in early-onset schizophrenia.

  16. 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.

  17. Early maladaptive schemas predict positive symptomatology in schizophrenia: a cross-sectional study.

    Science.gov (United States)

    Bortolon, Catherine; Capdevielle, Delphine; Boulenger, Jean-Philippe; Gely-Nargeot, Marie-Christine; Raffard, Stéphane

    2013-10-30

    Recent literature has shown the role of social factors, such as childhood negative experiences and attachment styles, in the genesis of psychotic symptoms. So far, despite this association with childhood negative experiences and a wide range of psychiatric disorders, no study has yet attempted to assess early maladaptive schemas (EMSs) in patients with schizophrenia as primary diagnosis. A sample of 48 patients diagnosed with schizophrenia and 44 control participants answered the schema questionnaire short form's French validation, and were assessed with the positive and negative syndrome scale as well as a scale of depression symptomatology. Results showed that, after controlling for depression, patients with schizophrenia achieved higher scores than control subjects on six EMSs. The EMSs were associated with positive, but not negative, symptomatology. After controlling for depression, only the Mistrust/Abuse schema was a significant predictor of positive symptoms accounting for a small portion (12.4%) of the variance. The results highlight the importance of focusing not only on the schizophrenic symptoms but also on the person and his or her subjective development of self. Therefore, these results suggest that Young's schema theory may be applied to schizophrenic patients.

  18. Cognitive and Neuroplasticity Mechanisms by Which Congenital or Early Blindness May Confer a Protective Effect Against Schizophrenia

    Science.gov (United States)

    Silverstein, Steven M.; Wang, Yushi; Keane, Brian P.

    2013-01-01

    Several authors have noted that there are no reported cases of people with schizophrenia who were born blind or who developed blindness shortly after birth, suggesting that congenital or early (C/E) blindness may serve as a protective factor against schizophrenia. By what mechanisms might this effect operate? Here, we hypothesize that C/E blindness offers protection by strengthening cognitive functions whose impairment characterizes schizophrenia, and by constraining cognitive processes that exhibit excessive flexibility in schizophrenia. After briefly summarizing evidence that schizophrenia is fundamentally a cognitive disorder, we review areas of perceptual and cognitive function that are both impaired in the illness and augmented in C/E blindness, as compared to healthy sighted individuals. We next discuss: (1) the role of neuroplasticity in driving these cognitive changes in C/E blindness; (2) evidence that C/E blindness does not confer protective effects against other mental disorders; and (3) evidence that other forms of C/E sensory loss (e.g., deafness) do not reduce the risk of schizophrenia. We conclude by discussing implications of these data for designing cognitive training interventions to reduce schizophrenia-related cognitive impairment, and perhaps to reduce the likelihood of the development of the disorder itself. PMID:23349646

  19. Loss of Nfkb1 leads to early onset aging.

    Science.gov (United States)

    Bernal, Giovanna M; Wahlstrom, Joshua S; Crawley, Clayton D; Cahill, Kirk E; Pytel, Peter; Liang, Hua; Kang, Shijun; Weichselbaum, Ralph R; Yamini, Bakhtiar

    2014-11-01

    NF-κB is a major regulator of age-dependent gene expression and the p50/NF-κB1 subunit is an integral modulator of NF-κB signaling. Here, we examined Nfkb1-/- mice to investigate the relationship between this subunit and aging. Although Nfkb1-/- mice appear similar to littermates at six months of age, by 12 months they have a higher incidence of several observable age-related phenotypes. In addition, aged Nfkb1-/- animals have increased kyphosis, decreased cortical bone, increased brain GFAP staining and a decrease in overall lifespan compared to Nfkb1+/+. In vitro, serially passaged primary Nfkb1-/- MEFs have more senescent cells than comparable Nfkb1+/+ MEFs. Also, Nfkb1-/- MEFs have greater amounts of phospho-H2AX foci and lower levels of spontaneous apoptosis than Nfkb1+/+, findings that are mirrored in the brains of Nfkb1-/- animals compared to Nfkb1+/+. Finally, in wildtype animals a substantial decrease in p50 DNA binding is seen in aged tissue compared to young. Together, these data show that loss of Nfkb1 leads to early animal aging that is associated with reduced apoptosis and increased cellular senescence. Moreover, loss of p50 DNA binding is a prominent feature of aged mice relative to young. These findings support the strong link between the NF-κB pathway and mammalian aging.

  20. The role of SCL2A1 in Early Onset and Childhood Absence Epilepsies

    DEFF Research Database (Denmark)

    Brusgaard, Klaus

    Introduction: Early onset absence epilepsy (EOAE) constitutes an idiopathic generalized epilepsy syndrome with typical absences starting before the age of four years. Mutations in SLC2A1, encoding the glucose transporter of the blood-brain barrier (GLUT-1), account for approximately 10% of EOAE......>C) leading to an amino acid exchange (336Leu>Val), the family history was unremarkable. The other EOAE patient with a very early onset of a severe epilepsy phenotype and movement disorder had a base exchange at position c.1189C>T causing a stop codon (p.Q397X) in exon 9. Familial GTCS were reported in his...

  1. Hybrid Model for Early Onset Prediction of Driver Fatigue with Observable Cues

    Directory of Open Access Journals (Sweden)

    Mingheng Zhang

    2014-01-01

    Full Text Available This paper presents a hybrid model for early onset prediction of driver fatigue, which is the major reason of severe traffic accidents. The proposed method divides the prediction problem into three stages, that is, SVM-based model for predicting the early onset driver fatigue state, GA-based model for optimizing the parameters in the SVM, and PCA-based model for reducing the dimensionality of the complex features datasets. The model and algorithm are illustrated with driving experiment data and comparison results also show that the hybrid method can generally provide a better performance for driver fatigue state prediction.

  2. Clinical characteristics of early- and late-onset gout: A cross-sectional observational study from a Chinese gout clinic.

    Science.gov (United States)

    Zhang, Bingqing; Fang, Weigang; Zeng, Xuejun; Zhang, Yun; Ma, Ya; Sheng, Feng; Zhang, Xinlei

    2016-11-01

    A retrospective cross-sectional study using data from an outpatient clinic in China was conducted to investigate the clinical features of early-onset gout patients.All patients diagnosed with gout were asked about clinical characteristics of their gout and comorbid diseases. Patients presenting with acute flares were asked about common triggers before the flare. "Early-onset" gout was defined as onset of gout before 40 years and "late-onset" as onset ≥40 years. Major joint involvement, flare frequency before presentation, the cumulative number of involved joints, proportions of tophi complications at presentation, flare triggers, as well as any metabolic, cardiovascular, cerebrovascular, and renal comorbidities, were compared between the 2 groups.A total of 778 gout patients were enrolled in this study, including 449 (57.7%) in the early-onset group and 329 (42.3%) in the late-onset group. Compared with the late-onset gout patients, the early-onset gout patients had a higher proportion of ankle/mid-foot involvement (62.8% vs 48.2%, P gout patients had fewer metabolic, cardiovascular, cerebrovascular, or renal complications.Early- and late-onset gout patients had different clinical features. Early-onset seems to be influenced more by lifestyle, while late-onset patients have more complications because of comorbidities.

  3. Early Cannabis Use, Polygenic Risk Score for Schizophrenia and Brain Maturation in Adolescence.

    Science.gov (United States)

    French, Leon; Gray, Courtney; Leonard, Gabriel; Perron, Michel; Pike, G Bruce; Richer, Louis; Séguin, Jean R; Veillette, Suzanne; Evans, C John; Artiges, Eric; Banaschewski, Tobias; Bokde, Arun W L; Bromberg, Uli; Bruehl, Ruediger; Buchel, Christian; Cattrell, Anna; Conrod, Patricia J; Flor, Herta; Frouin, Vincent; Gallinat, Jurgen; Garavan, Hugh; Gowland, Penny; Heinz, Andreas; Lemaitre, Herve; Martinot, Jean-Luc; Nees, Frauke; Orfanos, Dimitri Papadopoulos; Pangelinan, Melissa Marie; Poustka, Luise; Rietschel, Marcella; Smolka, Michael N; Walter, Henrik; Whelan, Robert; Timpson, Nic J; Schumann, Gunter; Smith, George Davey; Pausova, Zdenka; Paus, Tomáš

    2015-10-01

    Cannabis use during adolescence is known to increase the risk for schizophrenia in men. Sex differences in the dynamics of brain maturation during adolescence may be of particular importance with regard to vulnerability of the male brain to cannabis exposure. To evaluate whether the association between cannabis use and cortical maturation in adolescents is moderated by a polygenic risk score for schizophrenia. Observation of 3 population-based samples included initial analysis in 1024 adolescents of both sexes from the Canadian Saguenay Youth Study (SYS) and follow-up in 426 adolescents of both sexes from the IMAGEN Study from 8 European cities and 504 male youth from the Avon Longitudinal Study of Parents and Children (ALSPAC) based in England. A total of 1577 participants (aged 12-21 years; 899 [57.0%] male) had (1) information about cannabis use; (2) imaging studies of the brain; and (3) a polygenic risk score for schizophrenia across 108 genetic loci identified by the Psychiatric Genomics Consortium. Data analysis was performed from March 1 through December 31, 2014. Cortical thickness derived from T1-weighted magnetic resonance images. Linear regression tests were used to assess the relationships between cannabis use, cortical thickness, and risk score. Across the 3 samples of 1574 participants, a negative association was observed between cannabis use in early adolescence and cortical thickness in male participants with a high polygenic risk score. This observation was not the case for low-risk male participants or for the low- or high-risk female participants. Thus, in SYS male participants, cannabis use interacted with risk score vis-à-vis cortical thickness (P = .009); higher scores were associated with lower thickness only in males who used cannabis. Similarly, in the IMAGEN male participants, cannabis use interacted with increased risk score vis-à-vis a change in decreasing cortical thickness from 14.5 to 18.5 years of age (t137 = -2.36; P

  4. Perbedaan Berat Lahir Bayi Pasien Preeklampsia Berat / Eklampsia Early dan Late Onset di RSUP Dr. M. Djamil Padang

    Directory of Open Access Journals (Sweden)

    Rizka Amelia

    2016-01-01

    Full Text Available AbstrakPreeklampsia dan eklampsia tidak hanya berdampak bagi ibu, tetapi juga terhadap janin yang dikandungnya, seperti hambatan pertumbuhan janin intrauterin yang dapat dilihat dari berat lahir bayi tersebut. Ibu dengan preeklampsia berat/ eklampsia early onset cenderung melahirkan bayi dengan berat lahir Kecil untuk Masa Kehamilan (KMK, sementara yang  late onset cenderung melahirkan bayi dengan berat lahir Sesuai untuk Masa Kehamilan (SMK atau bahkan Besar untuk Masa Kehamilan (BMK. Tujuannya penelitian ini adalah menentukan perbedaan berat lahir bayi pasien preeklampsia berat/ eklampsia early dan late onset. Penelitian ini dilaksanakan dari Oktober 2012 sampai Juli 2013 di bagian Rekam Medik RSUP Dr. M. Djamil Padang. Jenis penelitian yang digunakan adalah observasional analitik dengan desain cross sectional. Hasil penelitian menunjukkan bahwa angka kejadian preeklampsia berat/ eklampsia early onset adalah 26,1% dan yang late onset sebanyak 73,9%. Bayi KMK lebih banyak dilahirkan oleh ibu preeklampsia berat/ eklampsia early onset (16,67% dibandingkan dengan yang  late onset (7,35%. Setelah dilakukan analisis melalui uji chi-square, disimpulkan bahwa tidak ada perbedaan berat lahir bayi antara pasien preeklampsia berat/eklampsia early dan late onset secara signifikan (p>0,05.Kata kunci: preeklampsia berat/eklampsia early onset, preeklampsia berat/eklampsia late onset, berat lahir bayi AbstractPreeclampsia and eclampsia are not only effect to mother, but also influent to the fetus, such as intrauterine fetal growth retardation  which can be seen as baby's birth weight. Mothers with early onset severe preeclampsia / eclampsia tend to give birth small for gestational age  babies, while the late onset tend to give birth normal birth weight or large for gestational age babies. The objective of this study was to determine the differentiation between baby's birth weight of early and late onset severe preeclampsia/ eclampsia. The research was

  5. Evaluation of a neurodevelopmental model of schizophrenia - Early postnatal PCP treatment in attentional set-shifting

    DEFF Research Database (Denmark)

    Broberg, B.V.; Dias, R.; Olsen, C.K.;

    2008-01-01

    Phencyclidine (PCP) was administered to male and female Lister hooded rats on postnatal days (PND) 7, 9 and 11. All PCP animals tested in adulthood (PND 53-93) showed deficits in cognitive flexibility, specifically in their ability to shift attentional set, compared to controls. This novel findin...... is reminiscent of the impairment observed in schizophrenia patients, and supports the validity of the early postnatal PCP regimen as a disease-like model. (c) 2008 Elsevier B.V. All rights reserved Udgivelsesdato: 2008...

  6. Cognitive control deficit in patients with first-episode schizophrenia is associated with complex deviations of early brain development

    Science.gov (United States)

    Gay, Olivier; Plaze, Marion; Oppenheim, Catherine; Gaillard, Raphael; Olié, Jean-Pierre; Krebs, Marie-Odile; Cachia, Arnaud

    2017-01-01

    Background Several clinical and radiological markers of early neurodevelopmental deviations have been independently associated with cognitive impairment in patients with schizophrenia. The aim of our study was to test the cumulative and/or interactive effects of these early neurodevelopmental factors on cognitive control (CC) deficit, a core feature of schizophrenia. Methods We recruited patients with first-episode schizophrenia-spectrum disorders, who underwent structural MRI. We evaluated CC efficiency using the Trail Making Test (TMT). Several markers of early brain development were measured: neurological soft signs (NSS), handedness, sulcal pattern of the anterior cingulate cortex (ACC) and ventricle enlargement. Results We included 41 patients with schizophrenia in our analysis, which revealed a main effect of ACC morphology (p = 0.041) as well as interactions between NSS and ACC morphology (p = 0.005), between NSS and handedness (p = 0.044) and between ACC morphology and cerebrospinal fluid (CSF) volume (p = 0.005) on CC measured using the TMT-B score – the TMT-A score. Limitations No 3- or 4-way interactions were detected between the 4 neurodevelopmental factors. The sample size was clearly adapted to detect main effects and 2-way interactions, but may have limited the statistical power to investigate higher-order interactions. The effects of treatment and illness duration were limited as the study design involved only patients with first-episode psychosis. Conclusion To our knowledge, our study provides the first evidence of cumulative and interactive effects of different neurodevelopmental markers on CC efficiency in patients with schizophrenia. Such findings, in line with the neurodevelopmental model of schizophrenia, support the notion that CC impairments in patients with schizophrenia may be the final common pathway of several early neurodevelopmental mechanisms. PMID:28245174

  7. Raynaud's syndrome: comparison of late and early onset forms using hand perfusion scintigraphy.

    Science.gov (United States)

    Csiki, Z; Galuska, L; Garai, I; Szabó, N; Varga, J; András, Cs; Zeher, M

    2006-09-01

    Primary Raynaud's disease is generally a disease of younger females; however, there are cases where symptoms present over the age of 40. These cases are described as late onset. In our current prospective study we compared the characteristics of early and late onset types of primary Raynaud's in 127 patients. In addition to the collection of medical records, we performed capillary-microscopy and hand perfusion scintigraphy using Tc-99 m DTPA to evaluate the microcirculation of each patient's fingers. Regarding the spectrum of the capillary-microscopic findings, we did not find any significant difference between the early and late onset forms. However, in hand perfusion examinations done using Tc-99 m DTPA, we measured a significantly lower finger/palm ratio (FPR) in the early onset group of patients. We also observed a correlation between the duration of the disease and the FPR, as well as between the age and FPR. Longer disease duration resulted in a significantly lower FPR. On the basis of our results, we believe that late onset Raynaud's should be treated as a separate entity. Due to its different characteristics found on examination and follow-up of our patients, functional hand perfusion examination should be recommended independently of the age-related characteristics of the disease.

  8. Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases

    NARCIS (Netherlands)

    Zhang, J.X.; Fu, L.; Voer, R.M. de; Hahn, M.M.; Jin, P.; Lv, C.X.; Verwiel, E.T.; Ligtenberg, M.J.L.; Hoogerbrugge, N.; Kuiper, R.P.; Sheng, J.Q.; Geurts van Kessel, A.H.M.

    2015-01-01

    AIM: To investigate whether whole-exome sequencing may serve as an efficient method to identify known or novel colorectal cancer (CRC) predisposing genes in early-onset or familial CRC cases. METHODS: We performed whole-exome sequencing in 23 Chinese patients from 21 families with non-polyposis CRC

  9. Genetic correlates of early accelerated infant growth associated with juvenile-onset type 1 diabetes

    NARCIS (Netherlands)

    Kharagjitsingh, A.V.; de Ridder, M.A.J.; Alizadeh, B.Z.; Veeze, H.J.; Bruining, G.J.; Roep, B.O.; Koeleman, Bobby P.C.

    2012-01-01

    Objective: We previously showed that accelerated growth predisposing to development of childhood-onset type 1 diabetes (T1D) is restricted to the first year after birth. We assessed whether this phenomenon of increased early growth is associated with variants of two genes, insulin-like growth factor

  10. Assessing early-onset hallucinations in the touch-screen generation.

    Science.gov (United States)

    Demeulemeester, Morgane; Kochman, Fréderic; Fligans, Benjamin; Tabet, Ahmed J; Thomas, Pierre; Jardri, Renaud

    2015-03-01

    The increasing development of apps for digital devices provides an opportunity for new instruments to assess hallucinations in young individuals. Here we present the Multisensory HAllucinations Scale for Children (MHASC), dedicated to assessing complex early-onset hallucinations. The MHASC will soon be translated into multilanguage versions with the support of the International Consortium of Hallucination Research. Royal College of Psychiatrists.

  11. Early onset of cannabis use: Does personality modify the relation with changes in perceived parental involvement?

    NARCIS (Netherlands)

    Creemers, Hanneke E.; Buil, J. Marieke; van Lier, Pot A. C.; Keijsers, Loes; Meeus, W.H.J.; Koot, Hans M.; Huizink, Anja C.

    2015-01-01

    Background The present study examined (1) the association between changes in perceived parental control and support from age 13 to 15 and early onset of cannabis use (before age 16), and (2) whether personality modifies the association between a decline in perceived parental control and support and

  12. Early Onset Ageing and Service Preparation in People with Intellectual Disabilities: Institutional Managers' Perspective

    Science.gov (United States)

    Lin, Jin-Ding; Wu, Chia-Ling; Lin, Pei-Ying; Lin, Lan-Ping; Chu, Cordia M.

    2011-01-01

    Although longevity among older adults with intellectual disabilities is increasing, there is limited information on their premature aging related health characteristics and how it may change with increasing age. The present paper provides information of the institutional manager's perception on early onset aging and service preparation for this…

  13. Early-onset gastric cancers have a different molecular expression profile than conventional gastric cancers

    NARCIS (Netherlands)

    A.N.A. Milne; R. Carvalho; F.M. Morsink; A.R. Musler; W.W.J. de Leng; A. Ristimaki; G.J.A. Offerhaus

    2006-01-01

    Many studies examine the molecular genetics of gastric cancer, but few look at young patients in particular and there is no comparison of molecular expression between early-onset gastric cancer (<= 45 years old) and conventional gastric cancers. Expression of cycloxygenase-2 (COX-2) is elevated in g

  14. Early-onset periodontitis in Morocco is associated with the highly leukotoxic clone of Actinobacillus actinomycetemcomitans

    DEFF Research Database (Denmark)

    Haubek, Dorte; Ennibi, O.-K.; Poulsen, Knud

    2001-01-01

    A particular clone (JP2) of Actinobacillus actinomycetemcomitans with increased leukotoxin production has been isolated from individuals with early-onset periodontitis (EOP). The aim of this study was to determine the frequency of carriers of this clone and its association with EOP in Moroccan...

  15. 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…

  16. Apolipoprotein E genotype and association between smoking and early onset Alzheimer's disease.

    NARCIS (Netherlands)

    C.M. van Duijn (Cock); P. de Knijff (Peter); M. Cruts (Marc); A. Wehnert (Anita); L.M. Havekes; C. van Broeckhoven (Christine); A. Hofman (Albert)

    1995-01-01

    textabstractOBJECTIVE--To investigate the hypothesis that differential survival between smokers and non-smokers leading to a decrease in the frequency of the e4 allele of the apolipoprotein E gene may explain the inverse relation between smoking history and early onset Alzheimer's disease. DESIGN--A

  17. [A study on early-onset group "B" streptococcal neonatal infection].

    Science.gov (United States)

    Vacheva, R; Todorova, M; Decheva, A; Yarakova, N; Kraleva, I; Takova, Ts; Dimitrova, N; Dobreva, A

    2012-01-01

    The results achieved with 80% reduction in the incidence of early-onset neonatal group B streptococcal (GBS) sepsis following the implementation of the preliminary (1996, 2002) and subsequently the revised (2010) guidelines for intrapartum antibiotic prophylaxis imposed the discussion on a large scale of the updated:--algorithms for GBS screening (35-37 weeks of gestation) with the recommended dosage of penicillin-G for intrapartum antibiotic prophylaxis for women having normal labor and delivery;--algorithms for GBS screening and intrapartum antibiotic prophylaxis for women with preterm labor (PPROM) or premature rupture of membranes (PROM);--intrapartum antibiotic prophylaxis regimens for women with penicillin allergy;--algorithm for management of newborns with respect to risk of early-onset GBS disease. The present study is aimed at studying the distribution of the early-onset GBS disease in our country based on the data of leading obstetrics & gynecology clinics and wards. The aim is to diferrentiate clinically the cases and investigate the influence of the known risk factors on the part of the mother. A special accent is put over the microbiological diagnostics of cases in view of CDC expanded recommendations on the laboratory methods for identification of GBS. As a final conclusion the necessity for introduction of an official registration of the early- and late-onset GBS disease in the country is emphasized.

  18. Clinical features and mortality in patients with early-onset Alzheimer's disease.

    NARCIS (Netherlands)

    W.N. Samson; C.M. van Duijn (Cock); W.C.J. Hop (Wim); A. Hofman (Albert)

    1996-01-01

    textabstractIn a population-based study of 198 patients with probable early-onset Alzheimer's disease (AD), we studied the occurrence of extrapyramidal signs (tremors and rigidity), myoclonus, psychosis and seizures, as well as their predictive value for mortality. The presence of tremors was signif

  19. Assessing Age of Onset Effects in (Early) Child L2 Acquisition

    Science.gov (United States)

    Unsworth, Sharon

    2013-01-01

    This study compares the development of three different types of bilingual/second language children in their acquisition of gender-marking on adjectives in Dutch to investigate whether there is evidence for age-of-onset effects in early childhood as proposed by Meisel (2009). The three groups of children are: simultaneous bilingual children,…

  20. DYT1 mutations in early onset primary torsion dystonia and Parkinson disease patients in Chinese populations.

    Science.gov (United States)

    Yang, Jing-Fang; Wu, Tao; Li, Jian-Yu; Li, Yong-Jie; Zhang, Yan-Li; Chan, Piu

    2009-01-30

    Torsion dystonia is an autosomal dominant movement disorder characterized by involuntary, repetitive muscle contractions and twisted postures. The most severe early onset form of dystonia has been linked to mutations in the human DYT1 (TOR1A) gene encoding a protein termed torsinA. Moreover, dystonia and Parkinson disease share the common feature of reduced dopamine neurotransmission in the striatum, so we assumed that mutations in the DYT1 gene might have the same role in cases of early onset primary torsion dystonia (EOPTD) and early onset Parkinson disease (EOPD) that present dystonia. In this present study, 17 patients with EOPTD, 221 patients with EOPD and 164 control subjects were screened for mutations of the DYT1 gene by denaturing high performance liquid chromatography (DHPLC), polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis and DNA sequencing. Our results showed that the GAG deletion was identified in 7 EOPTD patients, which results in Glu302del of DYT1 gene. No mutations were found in EOPD patients and control subjects. By carefully reviewing the available literature on studies of sporadic, non-Ashkenazi Jewish populations, the results showed that the prevalence rate of DYT1 mutation was not significantly different (p=0.267) between European (27.3%) and Asian (22.2%) patients with early onset primary torsion dystonia.

  1. Reliability and discriminant validity of ataxia rating scales in early onset ataxia

    NARCIS (Netherlands)

    Brandsma, Rick; Lawerman, Tjitske F.; Kuiper, Marieke J; Lunsing, Roelineke J; Burger, Huibert; Sival, Deborah A

    AIM: To determine whether ataxia rating scales are reliable disease biomarkers for early onset ataxia (EOA). METHOD: In 40 patients clinically identified with EOA (28 males, 12 females; mean age 15y 3mo [range 5-34y]), we determined interobserver and intraobserver agreement (interclass correlation

  2. Assessment of speech in early-onset ataxia : a pilot study

    NARCIS (Netherlands)

    Kuiper, Marieke J.; Brandsma, Rick; Lawerman, T.F.; Lunsing, Roelineke J.; Keegstra, Anne L.; Burger, Huibert; De Koning, Tom J.; Tijssen, Marina A. J.; Sival, Deborah A.

    2014-01-01

    AIM: The aim of the study was to determine whether paediatric ataxia speech subscores are reliably applicable for international early-onset ataxia (EOA) databases. If so, we reasoned that ataxia speech subscores should be associated with ataxia scores and involve high interobserver agreement,

  3. Reliability and discriminant validity of ataxia rating scales in early onset ataxia

    NARCIS (Netherlands)

    Brandsma, Rick; Lawerman, Tjitske F.; Kuiper, Marieke J.; Lunsing, Roelineke J.; Burger, Huibert; Sival, Deborah A.

    AIM To determine whether ataxia rating scales are reliable disease biomarkers for early onset ataxia (EOA). METHOD In 40 patients clinically identified with EOA (28 males, 12 females; mean age 15y 3mo [range 5-34y]), we determined interobserver and intraobserver agreement (interclass correlation

  4. Reliability and discriminant validity of ataxia rating scales in early onset ataxia

    NARCIS (Netherlands)

    Brandsma, R.; Lawerman, T. F.; Kuiper, M. J.; Geffen, van Joke; Lunsing, I. J.; Burger, H.; de Koning, T. J.; de Vries, J. J.; de Koning-Tijssen, M. A. J.; Sival, D. A.

    Objective: To determine observer-agreement and discriminantvalidity of ataxia rating scales.Background: In children and young adults, Early Onset Ataxia(EOA) is frequently concurrent with other Movement Disorders,resulting in moderate inter-observer agreement among MovementDisorder professionals. To

  5. Memory in Early Onset Bipolar Disorder and Attention-Deficit/Hyperactivity Disorder: Similarities and Differences

    Science.gov (United States)

    Udal, Anne H.; Oygarden, Bjorg; Egeland, Jens; Malt, Ulrik F.; Groholt, Berit

    2012-01-01

    Differentiating between early-onset bipolar disorder (BD) and attention-deficit/hyperactivity disorder (ADHD) can be difficult. Memory problems are commonly reported in BD, and forgetfulness is among the diagnostic criteria for ADHD. We compared children and adolescents with BD (n = 23), ADHD combined type (ADHD-C; n = 26), BD + ADHD-C (n = 15),…

  6. Genetic correlates of early accelerated infant growth associated with juvenile-onset type 1 diabetes

    NARCIS (Netherlands)

    Kharagjitsingh, Av; de Ridder, Maj; Alizadeh, Bz; Veeze, Hj; Bruining, Gj; Roep, Bo; Koeleman, Bobby Pc

    2012-01-01

    OBJECTIVE: We previously showed that accelerated growth predisposing to development of childhood-onset type 1 diabetes (T1D) is restricted to the first year after birth. We assessed whether this phenomenon of increased early growth is associated with variants of two genes, insulin-like growth factor

  7. 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…

  8. Guiding of serum procalcitonin-guided antibiotic in elderly early-onset stroke-associated pneumonia

    Institute of Scientific and Technical Information of China (English)

    龙威

    2013-01-01

    Objective To evaluate the effects of serum procalcitonin (PCT) -guided antibiotic therapy in elderly patients with early-onset stroke-associated pneumonia (EOP) .Methods Totally 179 eligible elderly patients with EOP were randomly devided into 2 groups:standard therapy

  9. Developmental Trends and L1 Effects in Early L2 Learners' Onset Cluster Production

    Science.gov (United States)

    Tessier, Anne-Michelle; Duncan, Tamara Sorenson; Paradis, Johanne

    2013-01-01

    This study focuses on English onset cluster production in spontaneous speech samples of 10 children aged 5;04-6;09 from Chinese and Hindi/Punjabi first language (L1) backgrounds, each with less than a year of exposure to English. The results suggest commonalities between early second language (L2) learners and both monolingual and adult L2…

  10. Early-onset periodontitis in Morocco is associated with the highly leukotoxic clone of Actinobacillus actinomycetemcomitans

    DEFF Research Database (Denmark)

    Haubek, Dorte; Ennibi, O.-K.; Poulsen, Knud

    2001-01-01

    A particular clone (JP2) of Actinobacillus actinomycetemcomitans with increased leukotoxin production has been isolated from individuals with early-onset periodontitis (EOP). The aim of this study was to determine the frequency of carriers of this clone and its association with EOP in Moroccan...

  11. The nigrostriatal dopaminergic system in familial early onset parkinsonism with parkin mutations

    NARCIS (Netherlands)

    Portman, AT; Giladi, N; Leenders, KL; Maguire, P; Veenma-van der Duin, L; Swart, J; Pruim, J; Simon, ES; Hassin-Baer, S; Korczyn, AD

    2001-01-01

    Nigrostriatal dopaminergic function and cerebral energy metabolism were measured with PET in two brothers with early-onset parkinsonism caused by mutation of the parkin gene. Energy metabolism did not differ, but the nigrostriatal dopaminergic pattern was clearly different than that of sporadic PD.

  12. Early onset vulvar Lichen Sclerosus in premenopausal women and oral contraceptives.

    Science.gov (United States)

    Günthert, Andreas R; Faber, Melanie; Knappe, Gabriele; Hellriegel, Simin; Emons, Günter

    2008-03-01

    For vulvar Lichen sclerosus (LS) immunological factors, genetic predisposition, and decreased 5 alpha-reductase activity have been discussed as aetiological factors. During the last decade an increase of LS in young women has been suspected. Aim of this study was to evaluate data of premenopausal women with early onset LS to find potential risk factors focussing on the use of oral contraceptives. We retrospectively analyzed the data of 40 premenopausal patients with early onset LS regarding use of oral contraceptives (OCPs), and first occurrence of LS. To compare these data in a case-control study we analyzed a matched control group of 110 healthy women. All our LS patients were using OCPs compared to 73 women (66.4%) in the control group. OCPs with anti-androgenic activity (chlormadinone acetate, cyproterone acetate, dienogest, and drospirenone) were used by 28 (70%) of the LS patients and by 35 (47.9%) of the 73 women using OCPs in the control group. Thus, the odds ratio for early onset LS for women using anti-androgenic OCPs was 2.53 (95% CI: 1.12-5.75). Our data suggest that disturbance of the androgen dependent growth of the vulvar skin by OCPs and especially by OCPs with anti-androgenic properties might trigger the early onset of LS in a subgroup of susceptible young women.

  13. Reliability and discriminant validity of ataxia rating scales in early onset ataxia

    NARCIS (Netherlands)

    Brandsma, R.; Lawerman, T. F.; Kuiper, M. J.; Geffen, van Joke; Lunsing, I. J.; Burger, H.; de Koning, T. J.; de Vries, J. J.; de Koning-Tijssen, M. A. J.; Sival, D. A.

    2015-01-01

    Objective: To determine observer-agreement and discriminantvalidity of ataxia rating scales.Background: In children and young adults, Early Onset Ataxia(EOA) is frequently concurrent with other Movement Disorders,resulting in moderate inter-observer agreement among MovementDisorder professionals. To

  14. Reliability and discriminant validity of ataxia rating scales in early onset ataxia

    NARCIS (Netherlands)

    Brandsma, Rick; Lawerman, Tjitske F; Kuiper, Marieke J; Lunsing, Roelineke J; Burger, Huibert; Sival, Deborah A

    2016-01-01

    AIM: To determine whether ataxia rating scales are reliable disease biomarkers for early onset ataxia (EOA). METHOD: In 40 patients clinically identified with EOA (28 males, 12 females; mean age 15y 3mo [range 5-34y]), we determined interobserver and intraobserver agreement (interclass correlation c

  15. 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

  16. 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

  17. Memory in Early Onset Bipolar Disorder and Attention-Deficit/Hyperactivity Disorder: Similarities and Differences

    Science.gov (United States)

    Udal, Anne H.; Oygarden, Bjorg; Egeland, Jens; Malt, Ulrik F.; Groholt, Berit

    2012-01-01

    Differentiating between early-onset bipolar disorder (BD) and attention-deficit/hyperactivity disorder (ADHD) can be difficult. Memory problems are commonly reported in BD, and forgetfulness is among the diagnostic criteria for ADHD. We compared children and adolescents with BD (n = 23), ADHD combined type (ADHD-C; n = 26), BD + ADHD-C (n = 15),…

  18. 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 hypotonia

  19. 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

  20. Assessment of speech in early-onset ataxia : a pilot study

    NARCIS (Netherlands)

    Kuiper, Marieke J.; Brandsma, Rick; Lawerman, T.F.; Lunsing, Roelineke J.; Keegstra, Anne L.; Burger, Huibert; De Koning, Tom J.; Tijssen, Marina A. J.; Sival, Deborah A.

    2014-01-01

    AIM: The aim of the study was to determine whether paediatric ataxia speech subscores are reliably applicable for international early-onset ataxia (EOA) databases. If so, we reasoned that ataxia speech subscores should be associated with ataxia scores and involve high interobserver agreement, includ

  1. Research Review: Cholinergic Mechanisms, Early Brain Development, and Risk for Schizophrenia

    Science.gov (United States)

    Ross, Randal G.; Stevens, Karen E.; Proctor, William R.; Leonard, Sherry; Kisley, Michael A.; Hunter, Sharon K.; Freedman, Robert; Adams, Catherine E.

    2010-01-01

    The onset of diagnostic symptomology for neuropsychiatric diseases is often the end result of a decades-long process of aberrant brain development. Identification of novel treatment strategies aimed at normalizing early brain development and preventing mental illness should be a major therapeutic goal. However, there are few models for how this…

  2. Initiating Characteristics of Early-onset Type 2 Diabetes Mellitus in Chinese Patients

    Institute of Scientific and Technical Information of China (English)

    Hui Yu; Li-Fang Xie; Kang Chen; Gang-Yi Yang; Xiao-Yan Xing; Jia-Jun Zhao; Tian-Pei Hong

    2016-01-01

    Background:Type 2 diabetes mellitus (T2DM) has traditionally been considered to affect mainly the elderly;however,the age at diagnosis has gradually reduced in recent years.Although the incidence of young-onset T2DM is increasing,it is still not fully clear the onset characteristics and risk factors of early-onset T2DM.The aim of this study was to describe the initiating characteristics of early-onset T2DM in Chinese patients and evaluate the risk factors for diabetes mellitus.Methods:This cross-sectional controlled study was performed using a questionnaire survey method in outpatients of multiple centers in China.A total of 1545 patients with T2DM with an age at onset of<40 years were included,and the control group consisted of subjects aged <40 years with normal blood glucose level.Results:In patients with young-onset T2DM,the mean age and initial hemoglobin 1Ac at diagnosis were 32.96 ± 5.40 years and 9.59 ± 2.71%,respectively.Most of the patients were obese,followed irregular diet pattern and sedentary lifestyle,had life or work pressure,and had a family history of diabetes mellitus.Compared with subjects with normal blood glucose level,logistic regression analysis showed that waist-to-hip ratio (odds ratio [OR] 446.99,95% confidence interval [CI] 42.37-4714.87),family history of diabetes mellitus (OR 23.46,CI14.47-38.03),dyslipidemia (OR 2.65,CI 1.54-4.56),diastolic blood pressure (OR 1.02,CI 1.00-1.04),and body mass index (OR 0.95,CI 0.92-0.99) are independent factors for early-onset T2DM.Conclusions:We observed that abdominal obesity,family history of diabetes mellitus,and medical history of hypertension and dyslipidemia are independent risk factors for early-onset T2DM.It is,therefore,necessary to apply early lifestyle intervention in young people with risk of diabetes mellitus.

  3. Study protocol: EXERcise and Cognition In Sedentary adults with Early-ONset dementia (EXERCISE-ON

    Directory of Open Access Journals (Sweden)

    Hooghiemstra Astrid M

    2012-08-01

    Full Text Available Abstract Background Although the development of early-onset dementia is a radical and invalidating experience for both patient and family there are hardly any non-pharmacological studies that focus on this group of patients. One type of a non-pharmacological intervention that appears to have a beneficial effect on cognition in older persons without dementia and older persons at risk for dementia is exercise. In view of their younger age early-onset dementia patients may be well able to participate in an exercise program. The main aim of the EXERCISE-ON study is to assess whether exercise slows down the progressive course of the symptoms of dementia. Methods/Design One hundred and fifty patients with early-onset dementia are recruited. After completion of the baseline measurements, participants living within a 50 kilometre radius to one of the rehabilitation centres are randomly assigned to either an aerobic exercise program in a rehabilitation centre or a flexibility and relaxation program in a rehabilitation centre. Both programs are applied three times a week during 3 months. Participants living outside the 50 kilometre radius are included in a feasibility study where participants join in a daily physical activity program set at home making use of pedometers. Measurements take place at baseline (entry of the study, after three months (end of the exercise program and after six months (follow-up. Primary outcomes are cognitive functioning; psychomotor speed and executive functioning; (instrumental activities of daily living, and quality of life. Secondary outcomes include physical, neuropsychological, and rest-activity rhythm measures. Discussion The EXERCISE-ON study is the first study to offer exercise programs to patients with early-onset dementia. We expect this study to supply evidence regarding the effects of exercise on the symptoms of early-onset dementia, influencing quality of life. Trial registration The present study is registered

  4. Early-onset neonatal group B streptococcus sepsis following national risk-based prevention guidelines.

    Science.gov (United States)

    Darlow, Brian A; Voss, Lesley; Lennon, Diana R; Grimwood, Keith

    2016-02-01

    Neonatal infection with group B streptococcus (GBS) is an important cause of infant mortality. Intrapartum antibiotics reduce early-onset GBS sepsis, but recommendations vary as to whether they should be offered following antenatal screening or based on risk factors alone. We aimed to determine the incidence of early-onset GBS sepsis in New Zealand five years after the publication of national risk-based GBS prevention guidelines. Prospective surveillance of early-onset GBS sepsis (defined as infection in the first 48 h of life) was undertaken between April 2009 and March 2011 through the auspices of the New Zealand Paediatric Surveillance Unit as part of a survey of infection presenting in the first week of life. There were 29 cases of confirmed early-onset GBS sepsis, including one case of meningitis, giving an incidence rate of 0.23 per 1000 (95% CI 0.16-0.33) live births. Three infants (10.3%) died. In 16 cases (55%), a maternal risk factor qualifying the mother for intrapartum antibiotics was present, but only five (31%) received this intervention. A retrospective review of the major hospital laboratory databases for this period identified two additional cases. A secondary sensitivity analysis taking account of these cases provided an estimated national incidence of 0.26 (95% CI 0.18-0.37) per 1000 live births. Ten years after a similar survey and five years after promoting a single, risk-based prevention protocol nationally, the incidence of early-onset GBS disease in New Zealand has more than halved, but opportunities remain to further reduce the rate. © 2015 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  5. Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.

    Directory of Open Access Journals (Sweden)

    Yi-Chu Liao

    Full Text Available Mutations in the GARS gene have been identified in a small number of patients with Charcot-Marie-Tooth disease (CMT type 2D or distal spinal muscular atrophy type V, for whom disease onset typically occurs during adolescence or young adulthood, initially manifesting as weakness and atrophy of the hand muscles. The role of GARS mutations in patients with inherited neuropathies in Taiwan remains elusive.Mutational analyses of the coding regions of GARS were performed using targeted sequencing of 54 patients with molecularly unassigned axonal CMT, who were selected from 340 unrelated CMT patients. Two heterozygous mutations in GARS, p.Asp146Tyr and p.Met238Arg, were identified; one in each patient. Both are novel de novo mutations. The p.Asp146Tyr mutation is associated with a severe infantile-onset neuropathy and the p.Met238Arg mutation results in childhood-onset disability.GARS mutations are an uncommon cause of CMT in Taiwan. The p.Asp146Tyr and p.Met238Arg mutations are associated with early-onset axonal CMT. These findings broaden the mutational spectrum of GARS and also highlight the importance of considering GARS mutations as a disease cause in patients with early-onset neuropathies.

  6. Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.

    Science.gov (United States)

    Liao, Yi-Chu; Liu, Yo-Tsen; Tsai, Pei-Chien; Chang, Chia-Ching; Huang, Yen-Hua; Soong, Bing-Wen; Lee, Yi-Chung

    2015-01-01

    Mutations in the GARS gene have been identified in a small number of patients with Charcot-Marie-Tooth disease (CMT) type 2D or distal spinal muscular atrophy type V, for whom disease onset typically occurs during adolescence or young adulthood, initially manifesting as weakness and atrophy of the hand muscles. The role of GARS mutations in patients with inherited neuropathies in Taiwan remains elusive. Mutational analyses of the coding regions of GARS were performed using targeted sequencing of 54 patients with molecularly unassigned axonal CMT, who were selected from 340 unrelated CMT patients. Two heterozygous mutations in GARS, p.Asp146Tyr and p.Met238Arg, were identified; one in each patient. Both are novel de novo mutations. The p.Asp146Tyr mutation is associated with a severe infantile-onset neuropathy and the p.Met238Arg mutation results in childhood-onset disability. GARS mutations are an uncommon cause of CMT in Taiwan. The p.Asp146Tyr and p.Met238Arg mutations are associated with early-onset axonal CMT. These findings broaden the mutational spectrum of GARS and also highlight the importance of considering GARS mutations as a disease cause in patients with early-onset neuropathies.

  7. Premorbid risk factors for major depressive disorder: are they associated with early onset and recurrent course?

    Science.gov (United States)

    Wilson, Sylia; Vaidyanathan, Uma; Miller, Michael B; McGue, Matt; Iacono, William G

    2014-11-01

    Premorbid risk for major depressive disorder (MDD) and predictors of an earlier onset and recurrent course were examined in two studies in a large, community-based sample of parents and offspring, prospectively assessed from late childhood into adulthood. In Study 1 (N = 2,764 offspring and their parents), parental psychiatric status, offspring personality at age 11, and age 11 offspring internalizing and externalizing symptoms predicted the subsequent development of MDD, as did poor quality parent-child relationships, poor academic functioning, early pubertal development, and childhood maltreatment by age 11. Parental MDD and adult antisocial behavior, offspring negative emotionality and disconstraint, externalizing symptoms, and childhood maltreatment predicted an earlier onset of MDD, after accounting for course; lower positive emotionality, trait anxiety, and childhood maltreatment predicted recurrent MDD, after accounting for age of onset. In Study 2 (N = 7,146), we examined molecular genetic risk for MDD by extending recent reports of associations with glutamatergic system genes. We failed to confirm associations with MDD using either individual single nucleotide polymorphism based tests or gene-based analyses. Overall, results speak to the pervasiveness of risk for MDD, as well as specific risk for early onset MDD; risk for recurrent MDD appears to be largely a function of its often earlier onset.

  8. Blood Culture Proven Early Onset Sepsis and Late Onset Sepsis in Very-Low-Birth-Weight Infants in Korea.

    Science.gov (United States)

    Lee, Soon Min; Chang, Meayoung; Kim, Ki-Soo

    2015-10-01

    Neonatal sepsis remains one of the most important causes of death and co-morbidity in very-low-birth-weight (VLBW) infants. The aim of this study was to determine the current incidences of early-onset sepsis (EOS) and late-onset sepsis (LOS), the distribution of pathogens, and the impact of infection on co-morbidities in VLBW infants. We analyzed the data including sepsis episode from 2,386 VLBW infants enrolled in Korean Neonatal Network from January 2013 to June 2014. We defined EOS as a positive blood culture occurring between birth and 7 days of life and LOS after 7 days of life. Sepsis was found in 21.1% of VLBW infants. The risk of sepsis was inversely related to birth weight and gestational age. EOS was found in only 3.6% of VLBW infants, however the mortality rate was as high as 34.1%. EOS was associated with the increased odds for bronchopulmonary dysplasia and intraventricular hemorrhage. The vast majority of EOS was caused by Gram-positive organisms, particularly coagulase-negative staphylococci (30.6%). LOS developed in 19.4% of VLBW infants with a 16.1% mortality rate. Pathogens in LOS were dominated by coagulase-negative staphylococci (38.3%). Twenty-five percent and fifty percent of first LOS episode occurred after 12 days and 20 days from birth, respectively. Younger and smaller VLBW infants showed the earlier occurrence day for the 25% of first LOS episode. This study provides a recent nationwide epidemiology of sepsis in VLBW infants in Korea. Based on this study, successful strategies to reduce infections would improve survival and reduce morbidity.

  9. Comparative neuropsychiatry: white matter abnormalities in children and adolescents with schizophrenia, bipolar affective disorder, and obsessive-compulsive disorder.

    Science.gov (United States)

    White, T; Langen, C; Schmidt, M; Hough, M; James, A

    2015-02-01

    There is considerable evidence that white matter abnormalities play a key role in the pathogenesis of a number of major psychiatric disorders, including schizophrenia, bipolar affective disorder, and obsessive-compulsive disorder. Few studies, however, have compared white matter abnormalities early in the course of the illness. A total of 102 children and adolescents participated in the study, including 43 with early-onset schizophrenia, 13 with early-onset bipolar affective disorder, 17 with obsessive-compulsive disorder, and 29 healthy controls. Diffusion tensor imaging scans were obtained on all children and the images were assessed for the presence of non-spatially overlapping regions of white matter differences, a novel algorithm known as the pothole approach. Patients with early-onset schizophrenia and early-onset bipolar affective disorder had a significantly greater number of white matter potholes compared to controls, but the total number of potholes did not differ between the two groups. The volumes of the potholes were significantly larger in patients with early-onset bipolar affective disorder compared to the early-onset schizophrenia group. Children and adolescents with obsessive-compulsive disorder showed no differences in the total number of white matter potholes compared to controls. White matter abnormalities in early-onset schizophrenia and bipolar affective disorder are more global in nature, whereas children and adolescents with obsessive-compulsive disorder do not show widespread differences in FA. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  10. Characteristics of familial aggregation in early-onset Alzheimer`s disease: Evidence of subgroups

    Energy Technology Data Exchange (ETDEWEB)

    Campion, D. [INSERM, Paris (France); Martinez, M.; Babron, M.C. [and others

    1995-06-19

    Characteristics of familial aggregation of Alzheimer`s Disease were studied in 92 families ascertained through a clinically diagnosed proband with an onset below age 60 years. In each family data were systematically collected on the sibships of the proband, of his father, and of his mother. A total of 926 relatives were included and 81% of the living relatives (i.e., 251 individuals) were directly examined. The estimated cumulative risk among first degree relatives was equal to 35% by age 89 years (95% confidence interval 22 to 47%). This result does not support the hypothesis that an autosomal dominant gene, fully penetrant by age 90 years, is segregating within all these pedigrees. Despite the fact that all probands were selected for an onset before age 60 years it was shown that two types of families could be delineated with respect to age at onset among affected relatives: all secondary cases with an onset below age 60 years were contributed by a particular group of families (type 1 families), whereas all secondary cases with an onset after age 60 years were contributed by another group of families (type 2 families). Although genetic interpretation of these findings is not straightforward, they support the hypothesis of etiologic heterogeneity in the determinism of early-onset Alzheimer`s disease. 58 refs., 5 figs., 2 tabs.

  11. Brief Report: No Association between Premorbid Adjustment in Adult-Onset Schizophrenia and Genetic Variation in Dysbindin

    Science.gov (United States)

    Schirmbeck, Frederike; Georgi, Alexander; Strohmaier, Jana; Schmael, Christine; Boesshenz, Katja V.; Muhleisen, Thomas W.; Herms, Stefan; Hoffmann, Per; Jamra, Rami Abou; Schumacher, Johannes; Maier, Wolfgang; Propping, Peter; Nothen, Markus M.; Cichon, Sven; Rietschel, Marcella; Schulze, Thomas G.

    2008-01-01

    Whereas "Dysbindin" is considered a schizophrenia vulnerability gene, there is no consistency of findings. Phenotype refinement approaches may help to increase the genetic homogeneity and thus reconcile conflicting results. Premorbid adjustment (PMA) has been suggested to aid the phenotypic dissection. Gornick et al. ("J Autism Dev…

  12. Brain volumes as predictor of outcome in recent-onset schizophrenia : a multi-center MRI study

    NARCIS (Netherlands)

    van Haren, NEM; Cahn, W; Pol, HEH; Schnack, HG; Caspers, E; Lemstra, A; Sitskoorn, MM; Wiersma, D; van den Bosch, RJ; Dingemans, PM; Schene, AH; Kahn, RS

    2003-01-01

    Gray matter brain volume decreases have been found in patients with schizophrenia as compared to healthy control subjects measured by using Magnetic Resonance Imaging (MRI). An association has been suggested between decreased gray matter volume and poor outcome in chronically ill patients with

  13. Brief Report: No Association between Premorbid Adjustment in Adult-Onset Schizophrenia and Genetic Variation in Dysbindin

    Science.gov (United States)

    Schirmbeck, Frederike; Georgi, Alexander; Strohmaier, Jana; Schmael, Christine; Boesshenz, Katja V.; Muhleisen, Thomas W.; Herms, Stefan; Hoffmann, Per; Jamra, Rami Abou; Schumacher, Johannes; Maier, Wolfgang; Propping, Peter; Nothen, Markus M.; Cichon, Sven; Rietschel, Marcella; Schulze, Thomas G.

    2008-01-01

    Whereas "Dysbindin" is considered a schizophrenia vulnerability gene, there is no consistency of findings. Phenotype refinement approaches may help to increase the genetic homogeneity and thus reconcile conflicting results. Premorbid adjustment (PMA) has been suggested to aid the phenotypic dissection. Gornick et al. ("J Autism Dev Disord"…

  14. Neuropsychology test and P300 detection characteristics analysis in early-onset Parkinson’s disease

    Institute of Scientific and Technical Information of China (English)

    黄静

    2014-01-01

    Objective To investigate the clinical and cognitive characteristics of early-onset Parkinson’s disease(EOPD).Methods Two hundred and forty-two Parkinson’s disease(PD)patients were divided into EOPD(≤50 year-old,n=76)and late-onset Parkinson’s disease(LOPD;>50 year-old,n=1 66)according to their age.The age,disease duration,family history and other general clinical features were compared between EOPD and LOPD groups.Global and various aspects of cognitive dysfunction were

  15. Familial aggregation of schizophrenia-like symptoms in Huntington's disease.

    Science.gov (United States)

    Tsuang, D; DiGiacomo, L; Lipe, H; Bird, T D

    1998-07-10

    An increased incidence of schizophrenia-like symptoms in Huntington's disease (HD) has been well-documented in the past. The reasons for this association, however, have never been explained. At the University of Washington Medical Genetics Clinic, we had the opportunity to evaluate a unique juvenile-onset HD proband who had schizophrenia-like symptoms. This patient was referred to our clinic because of new onset of somatic delusions and command auditory hallucinations early in the course of her illness. Since we had already evaluated other affected individuals in her family, we selected another family with a nonpsychotic juvenile-onset proband for comparison. Using these two families in a small case-control study, we investigated the following hypotheses which could explain the association between schizophrenia-like symptoms and HD: first, schizophrenia-like symptoms may be related to the number of CAG repeats in the HD gene; second, schizophrenia-like symptoms may segregate in certain HD families, for unknown reasons; and third, there may coincidentally be an unrelated gene for schizophrenia in certain HD families. Comparisons of clinical characteristics and the HD genotype showed that family history of schizophrenia-like symptoms segregated with the HD gene; however, age of onset of HD, size of CAG repeat, and sex of the transmitting parent were not associated with psychotic symptoms. Further genetic and neurobiological studies are necessary to investigate the potential mechanism underlying this association.

  16. Risk Factors for Early-Onset and Very-Early-Onset Pancreatic Adenocarcinoma: A Pancreatic Cancer Case-Control Consortium (PanC4) Analysis.

    Science.gov (United States)

    McWilliams, Robert R; Maisonneuve, Patrick; Bamlet, William R; Petersen, Gloria M; Li, Donghui; Risch, Harvey A; Yu, Herbert; Fontham, Elizabeth T H; Luckett, Brian; Bosetti, Cristina; Negri, Eva; La Vecchia, Carlo; Talamini, Renato; Bueno de Mesquita, H Bas; Bracci, Paige; Gallinger, Steven; Neale, Rachel E; Lowenfels, Albert B

    2016-02-01

    While pancreatic cancer (PC) most often affects older adults, to date, there has been no comprehensive assessment of risk factors among PC patients younger than 60 years. We defined early-onset PC (EOPC) and very-early-onset PC (VEOPC) as diagnosis of PC in patients younger than 60 and 45 years, respectively. We pooled data from 8 case-control studies, including 1954 patients with EOPC and 3278 age- and sex-matched control subjects. Logistic regression analysis was performed to identify associations with EOPC and VEOPC. Family history of PC, diabetes mellitus, smoking, obesity, and pancreatitis were associated with EOPC. Alcohol use equal to or greater than 26 g daily also was associated with increased risk of EOPC (odds ratio, 1.49; 95% confidence interval, 1.21-1.84), and there appeared to be a dose- and age-dependent effect of alcohol on risk. The point estimate for risk of VEOPC was an odds ratio of 2.18 (95% confidence interval, 1.17-4.09). The established risk factors for PC, including smoking, diabetes, family history of PC, and obesity, also apply to EOPC. Alcohol intake appeared to have an age-dependent effect; the strongest association was with VEOPC.

  17. 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

  18. Morphological and functional abnormalities of salience network in the early-stage of paranoid schizophrenia.

    Science.gov (United States)

    Pu, Weidan; Li, Li; Zhang, Huiran; Ouyang, Xuan; Liu, Haihong; Zhao, Jingping; Li, Lingjiang; Xue, Zhimin; Xu, Ke; Tang, Haibo; Shan, Baoci; Liu, Zhening; Wang, Fei

    2012-10-01

    A salience network (SN), mainly composed of the anterior insula (AI) and anterior cingulate cortex (ACC), has been suggested to play an important role in salience attribution which has been proposed as central to the pathology of paranoid schizophrenia. The role of this SN in the pathophysiology of paranoid schizophrenia, however, still remains unclear. In the present study, voxel-based morphometry and resting-state functional connectivity analyses were combined to identify morphological and functional abnormalities in the proposed SN in the early-stage of paranoid schizophrenia (ESPS). Voxel-based morphometry and resting-state functional connectivity analyses were applied to 90 ESPS patients and 90 age- and sex-matched healthy controls (HC). Correlation analyses were performed to examine the relationships between various clinical variables and both gray matter morphology and functional connectivity within the SN in ESPS. Compared to the HC group, the ESPS group showed significantly reduced gray matter volume (GMV) in both bilateral AI and ACC. Moreover, significantly reduced functional connectivity within the SN sub-networks was identified in the ESPS group. These convergent morphological and functional deficits in SN were significantly associated with hallucinations. Additionally, illness duration correlated with reduced GMV in the left AI in ESPS. In conclusion, these findings provide convergent evidence for the morphological and functional abnormalities of the SN in ESPS. Moreover, the association of illness duration with the reduced GMV in the left AI suggests that the SN and the AI, in particular, may manifest progressive morphological changes that are especially important in the emergence of ESPS.

  19. Predictors of onset of psychosis in patients with Parkinson's disease: Who gets it early?

    Science.gov (United States)

    Lenka, Abhishek; George, Lija; Arumugham, Shyam Sundar; Hegde, Shantala; Reddy, Venkateswara; Kamble, Nitish; Yadav, Ravi; Pal, Pramod Kumar

    2017-09-14

    Psychosis is one of the common non-motor symptoms of PD, which substantially worsens the quality of life. Hence, it is important to identify factors that are associated with early onset of psychosis in PD. In order to identify those factors, the current study aims to compare various demographic and clinical features of PD patients with early and late onset psychosis. In this prospective case-control study, 51 consecutive patients with PD having psychosis (PDP) were recruited. Median of the latency of onset of psychotic symptoms from the onset of motor symptoms was calculated (5.5 years) and after doing a median split, the cohort of PDP was divided into early onset PDP (EOP, n = 25) and late onset PDP (LOP, n = 26). Both the groups were compared for several demographic and clinical characteristics. Compared to those with LOP, patients with EOP had poor scores on frontal assessment battery (13.8 ± 2.0 vs 15.3 ± 1.8, p = 0.007), more frequently had Rapid Eye movement sleep Behavior Disorder (RBD) (80% vs 46.2%, p = 0.02), Postural Instability with Gait Difficulty (PIGD) phenotype (72% vs 26.9%, p = 0.002), and excessive daytime sleepiness (Epworth Sleepiness Scale: 8.04 ± 3.7 vs 3.9 ± 3.1). Patients with LOP were older (63.4 ± 7.0 years vs 56.5 ± 8.1 years, p = 0.002) and had higher Levodopa equivalent dose/day (LEDD: 819.1 ± 365.8 vs 608.5 ± 356.3, p = 0.04) compared to those with EOP. Presence of RBD, excessive daytime sleepiness, frontal lobe dysfunction, and PIGD phenotype of PD may be associated with early onset of psychosis in PD. Higher LEDD may not trigger early occurrence of psychosis in PD. Copyright © 2017. Published by Elsevier Ltd.

  20. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

    Science.gov (United States)

    Milh, Mathieu; Villeneuve, Nathalie; Chouchane, Mondher; Kaminska, Anna; Laroche, Cécile; Barthez, Marie Anne; Gitiaux, Cyril; Bartoli, Céline; Borges-Correia, Ana; Cacciagli, Pierre; Mignon-Ravix, Cécile; Cuberos, Hélène; Chabrol, Brigitte; Villard, Laurent

    2011-10-01

    STXBP1 (MUNC18-1) mutations have been associated with various types of epilepsies, mostly beginning early in life. To refine the phenotype associated with STXBP1 aberrations in early onset epileptic syndromes, we studied this gene in a cohort of patients with early onset epileptic encephalopathy. STXBP1 was screened in a multicenter cohort of 52 patients with early onset epilepsy (first seizure observed before the age of 3 months), no cortical malformation on brain magnetic resonance imaging (MRI), and negative metabolic screening. Three groups of patients could be distinguished in this cohort: (1) Ohtahara syndromes (n = 38); (2) early myoclonic encephalopathies (n = 7); and (3) early onset epileptic encephalopathies that did not match any familiar syndrome (n = 7). None of the patients displayed any cortical malformation on brain MRI and all were screened through multiple video-electroencephalography (EEG) recordings for a time period spanning from birth to their sixth postnatal month. Subsequently, patients had standard EEG or video-EEG recordings. We found five novel STXBP1 mutations in patients for whom video-EEG recordings could be sampled from the beginning of the disease. All patients with a mutation displayed Ohtahara syndrome, since most early seizures could be classified as epileptic spasms and since the silent EEG periods were on average shorter than bursts. However, each patient in addition displayed a particular clinical and EEG feature: In two patients, early seizures were clonic, with very early EEG studies exhibiting relatively low amplitude bursts of activity before progressing into a typical suppression-burst pattern, whereas the three other patients displayed epileptic spasms associated with typical suppression-burst patterns starting from the early recordings. Epilepsy dramatically improved after 6 months and finally disappeared before the end of the first year of life for four patients; the remaining one patient had few seizures until 18

  1. An analysis of expectant management in women with early-onset preeclampsia in China.

    Science.gov (United States)

    Chen, Q; Shen, F; Gao, Y F; Zhao, M

    2015-06-01

    Preeclampsia is a pregnancy-specific disorder and a leading cause of morbidity and mortality in both women and fetus. Although women with early severe preeclampsia are generally considered to require expedious delivery, expectant management may benefit for pregnancy prolongation. We performed a retrospective analysis of expectant management in early-onset preeclampsia, with or without fetal grow restriction (FGR) over a 6-year period, to investigate whether these women benefit from expectant management. Data including clinical parameters and liver and renal function from 186 nulliparous women with early-onset preeclampsia were analysed. In women with early-onset preeclampsia, 76.8% were delivered after 48 h and the median pregnancy prolongation was 8 days, whereas 23.2% were delivered within 48 h. There was no difference in maternal parameters, liver or renal functions between women in these two groups, regardless of the severity of preeclampsia. However, the stillbirth number was higher in preeclamptic women delivered after 48 h compared with those delivered within 48 h. Our study demonstrates that the decision for immediate delivery or expectant management was not associated with clinical parameter or laboratory biomarker of liver and renal function. However, the risk of stillbirth should still be taken into consideration when making the decision for immediate delivery or expectant management in the clinic.

  2. Functional neuroanatomical associations of working memory in early-onset Alzheimer's disease.

    Science.gov (United States)

    Kobylecki, Christopher; Haense, Cathleen; Harris, Jennifer M; Stopford, Cheryl L; Segobin, Shailendra H; Jones, Matthew; Richardson, Anna M T; Gerhard, Alexander; Anton-Rodriguez, José; Thompson, Jennifer C; Herholz, Karl; Snowden, Julie S

    2017-03-16

    To characterize metabolic correlates of working memory impairment in clinically defined subtypes of early-onset Alzheimer's disease. Established models of working memory suggest a key role for frontal lobe function, yet the association in Alzheimer's disease between working memory impairment and visuospatial and language symptoms suggests that temporoparietal neocortical dysfunction may be responsible. Twenty-four patients with predominantly early-onset Alzheimer's disease were clinically classified into groups with predominantly amnestic, multidomain or visual deficits. Patients underwent neuropsychological evaluation focused on the domains of episodic and working memory, T1-weighted magnetic resonance imaging and brain fluorodeoxyglucose positron emission tomography. Fluorodeoxyglucose positron emission tomography data were analysed by using a region-of-interest approach. Patients with multidomain and visual presentations performed more poorly on tests of working memory compared with amnestic Alzheimer's disease. Working memory performance correlated with glucose metabolism in left-sided temporoparietal, but not frontal neocortex. Carriers of the apolipoprotein E4 gene showed poorer episodic memory and better working memory performance compared with noncarriers. Our findings support the hypothesis that working memory changes in early-onset Alzheimer's disease are related to temporoparietal rather than frontal hypometabolism and show dissociation from episodic memory performance. They further support the concept of subtypes of Alzheimer's disease with distinct cognitive profiles due to prominent neocortical dysfunction early in the disease course. Copyright © 2017 John Wiley & Sons, Ltd. Copyright © 2017 John Wiley & Sons, Ltd.

  3. Modified areal cartography in auditory cortex following early- and late-onset deafness.

    Science.gov (United States)

    Wong, Carmen; Chabot, Nicole; Kok, Melanie A; Lomber, Stephen G

    2014-07-01

    Cross-modal plasticity following peripheral sensory loss enables deprived cortex to provide enhanced abilities in remaining sensory systems. These functional adaptations have been demonstrated in cat auditory cortex following early-onset deafness in electrophysiological and psychophysical studies. However, little information is available concerning any accompanying structural compensations. To examine the influence of sound experience on areal cartography, auditory cytoarchitecture was examined in hearing cats, early-deaf cats, and cats with late-onset deafness. Cats were deafened shortly after hearing onset or in adulthood. Cerebral cytoarchitecture was revealed immunohistochemically using SMI-32, a monoclonal antibody used to distinguish auditory areas in many species. Auditory areas were delineated in coronal sections and their volumes measured. Staining profiles observed in hearing cats were conserved in early- and late-deaf cats. In all deaf cats, dorsal auditory areas were the most mutable. Early-deaf cats showed further modifications, with significant expansions in second auditory cortex and ventral auditory field. Borders between dorsal auditory areas and adjacent visual and somatosensory areas were shifted ventrally, suggesting expanded visual and somatosensory cortical representation. Overall, this study shows the influence of acoustic experience in cortical development, and suggests that the age of auditory deprivation may significantly affect auditory areal cartography. © The Author 2013. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  4. Perbedaan Rerata Kadar Soluble Fms-Like Tyrosine Kinase-1 (Sflt-1 Serum pada Penderita Early Onset, Late Onset Preeklampsia Berat / Eklampsia dan Kehamilan Normal

    Directory of Open Access Journals (Sweden)

    Laila Rahmi

    2016-01-01

    Full Text Available AbstrakPreeklampsia merupakan sumber utama morbiditas dan mortalitas ibu di seluruh dunia. Kegagalan pengaturan dan ketidakseimbangan agen vasoaktif proangiogenik dan antiangiogenik plasenta, soluble fms-like tyrosine kinase-1 (sFlt-1, vascular endothelial growth factor (VEGF dan placental growth factor (PlGF memainkan peran penting dalam patogenesis preeklampsia. Tujuan penelitian ini adalah menentukan perbedaan rerata kadar sFlt-1 serum pada penderita early onset, late onset preeklampsia berat/ eklampsia dan kehamilan normal. Penelitian dilakukan di RSUP Dr. M. Djamil, RS TK. III dr. Reksodiwiryo dan Laboratorium Biologi Molekuler Fakultas Kedokteran Universitas Andalas Padang dari Februari sampai  Desember 2014 dengan desain cross sectional. Subjek berjumlah 84 orang, terdiri dari tiga kelompok, yaitu kelompok early onset preeklampsia berat/ eklampsia, late onset preeklampsia berat/ eklampsia, dan kehamilan normal sebagai kelompok kontrol yang diambil dengan teknik consecutive sampling. Darah dikumpulkan dari subjek penelitian dengan cara intravena kemudian diukur dengan metode ELISA. Rerata kadar sFlt-1 pada kelompok early onset, late onset preeklampsia berat/ eklampsia dan kehamilan normal secara berturut-turut adalah 4,69±0,96 ng/ml, 2,39±0,57 ng/ml, dan 1,23±0,42 ng/ml. Perbedaan ini sangat signifikan dengan uji statistik ANOVA (p<0,05 dan uji Post Hoc Test Multiple Comparisons. Kesimpulan penelitian adalah terdapat perbedaan yang sangat signifikan antara kadar sFlt-1 serum pada kelompok early onset preeklampsia berat/ eklampsia, late onset preeklampsia berat/ eklampsia dan kehamilan normal.Kata kunci: sFlt-1, antiangiogenik, preeklampsia berat/ eklampsia, kehamilan normal AbstractPreeclampsia is a major cause maternal morbidity and mortality in the world. Failure regulation and imbalance of vasoactive agents and antiangiogenic proangiogenik placenta, soluble fms-like tyrosine kinase-1 (sFlt-1, vascular endothelial growth factor

  5. Early-life metal exposure and schizophrenia: A proof-of-concept study using novel tooth-matrix biomarkers

    Science.gov (United States)

    Modabbernia, A.; Velthorst, E.; Gennings, C.; De Haan, L.; Austin, C.; Sutterland, A.; Mollon, J.; Frangou, S.; Wright, R.; Arora, M.; Reichenberg, A.

    2016-01-01

    Background Despite evidence for the effects of metals on neurodevelopment, the long-term effects on mental health remain unclear due to methodological limitations. Our objective was to determine the feasibility of studying metal exposure during critical neurodevelopmental periods and to explore the association between early-life metal exposure and adult schizophrenia. Methods We analyzed childhood-shed teeth from nine individuals with schizophrenia and five healthy controls. We investigated the association between exposure to lead (Pb2+), manganese (Mn2+), cadmium (Cd2+), copper (Cu2+), magnesium (Mg2+), and zinc (Zn2+), and schizophrenia, psychotic experiences, and intelligence quotient (IQ). We reconstructed the dose and timing of early-life metal exposures using laser ablation inductively coupled plasma mass spectrometry. Results We found higher early-life Pb2+ exposure among patients with schizophrenia than controls. The differences in log Mn2+ and log Cu2+ changed relatively linearly over time to postnatal negative values. There was a positive correlation between early-life Pb2+ levels and psychotic experiences in adulthood. Moreover, we found a negative correlation between Pb2+ levels and adult IQ. Conclusions In our proof-of-concept study, using tooth-matrix biomarker that provides direct measurement of exposure in the fetus and newborn, we provide support for the role of metal exposure during critical neurodevelopmental periods in psychosis. PMID:27311101

  6. Early onset otitis media: risk factors and effects on the outcome of chronic suppurative otitis media.

    Science.gov (United States)

    Lasisi, Akeem O; Olayemi, Oladapo; Irabor, Achiaka E

    2008-07-01

    The onset of early otitis media (EOM), in the first few months of life has been reported to predict later chronic otitis media (CSOM), although the prevalence rates are increasing little is known about specific risk factors. In this survey we examined the hypothesis that higher risk factors is associated with the development of OM within 1 year compared to later onset and early onset otitis media (OM) has potential for negative outcome of CSOM. This is a survey of the age at onset of otorrhoea and associated risk factors in children with CSOM, in five sites spread in two sub-urban cities in two states in Nigeria. Questionnaires were administered on the informants followed by examination of the children. EOM was seen in 136/189 (70%) with CSOM, the age range was 1-150 months, mean of 59.25 (SD = 44.55). Of the 85 CSOM subjects with hearing loss, EOM accounted for 49 (57.7%) while 36 (42.4%) was later onset, On multivariate analysis (OR = 0.276, CI = 0.133-0.572, P = 0.001) revealing EOM was significant in the development of hearing loss however there was no correlation with the frequency of attack of otorrhoea (OR = 1.025, CI = 0.88-1.19, P = 0.75). Low socioeconomic status seen in 110/136 EOM (P = 0.000), allergy (P = 0.030) and number of people >10 in household (OR = 4.13, CI = 1.81-9.39, P = 0.001) constituted the significant risk for EOM compared to later onset. Bottlefeeding, adenoiditis/adenoid hypertrophy, indoor cooking and upper respiratory infection were not found to have statistical significance in early onset OM compared to later onset OM. This study found correlation between EOM and hearing loss and identified allergy, low social status and chronic exposure to overcrowding through increased number of children in the household significant risk factors for future research focus. This may help in controlling the prevalence of hearing loss accompanying CSOM.

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

    Energy Technology Data Exchange (ETDEWEB)

    Karas, Giorgos [Vrije Universiteit Medical Centre, Department of Diagnostic Radiology, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands); Scheltens, Philip; Jones, Bethany [Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Department of Clinical Neurology, Amsterdam (Netherlands); Rombouts, Serge [Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Department of Clinical Physics and Informatics, Amsterdam (Netherlands); Schijndel, Ronald van [Vrije Universiteit Medical Center, Image Analysis Center, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Department of Clinical Physics and Informatics, Amsterdam (Netherlands); Klein, Martin [Vrije Universiteit Medical Center, Department of Medical Psychology, Amsterdam (Netherlands); Flier, Wiesje van der [Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands); Vrenken, Hugo [Vrije Universiteit Medical Center, Image Analysis Center, Amsterdam (Netherlands); Barkhof, Frederik [Vrije Universiteit Medical Centre, Department of Diagnostic Radiology, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Image Analysis Center, Amsterdam (Netherlands); Vrije Universiteit Medical Center, Alzheimer Center, Amsterdam (Netherlands)

    2007-12-15

    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.)

  8. Genetic risk factors for myocardial infarction more clearly manifest for early age of first onset.

    Science.gov (United States)

    Titov, Boris V; Osmak, German J; Matveeva, Natalia A; Kukava, Nino G; Shakhnovich, Roman M; Favorov, Alexander V; Ruda, Mikhail Ya; Favorova, Olga O

    2017-07-06

    Epidemiological genetics established that heritability in determining the risk of myocardial infarction (MI) is substantially greater when MI occurs early in life. However, the genetic architecture of early-onset and late-onset MI was not compared. We analyzed genotype frequencies of SNPs in/near 20 genes whose protein products are involved in the pathogenesis of atherosclerosis in two groups of Russian patients with MI: the first group included patients with age of first MI onset <60 years (N = 230) and the second group with onset ≥60 years (N = 174). The control group of corresponding ethnicity consisted of 193 unrelated volunteers without cardiovascular diseases (93 individuals were over 60 years). We found that in the group of patients with age of onset <60 years, SNPs FGB rs1800788*T, TGFB1 rs1982073*T/T, ENOS rs2070744*C and CRP rs1130864*T/T were associated with risk of MI, whereas in patients with age of onset ≥60 years, only TGFB1 rs1982073*T/T was associated with risk of MI. Using APSampler software, we found composite markers associated with MI only in patients with early onset: FGB rs1800788*T + TGFB1 rs1982073*T; FGB rs1800788*T + LPL rs328*C + IL4 rs2243250*C; FGB rs1800788*T + ENOS rs2070744*C (Fisher p values of 1.4 × 10(-6) to 2.2 × 10(-5); the permutation p values of 1.1 × 10(-5) to 3.0 × 10(-4); ORs = 2.67-2.54). Alleles included in the combinations were associated with MI less significantly and with lower ORs than the combinations themselves. The result showed a substantially greater contribution of the genetic component in the development of MI if it occurs early in life, and demonstrated the usefulness of genetic testing for young people.

  9. Increased anterior cingulate and temporal lobe activity during visuospatial working memory in children and adolescents with schizophrenia

    NARCIS (Netherlands)

    T.J.H. White (Tonya); D. Hongwanishkul (Donaya); M. Schmidt (Manfred)

    2011-01-01

    textabstractObjective: Similar to adults, children and adolescents with schizophrenia present with significant working memory (WkM) deficits. However, unlike adults, findings of abnormal activity in the prefrontal cortex in early-onset schizophrenia (EOS) are not consistently reported. Since WkM con

  10. Increased anterior cingulate and temporal lobe activity during visuospatial working memory in children and adolescents with schizophrenia

    NARCIS (Netherlands)

    T.J.H. White (Tonya); D. Hongwanishkul (Donaya); M. Schmidt (Manfred)

    2011-01-01

    textabstractObjective: Similar to adults, children and adolescents with schizophrenia present with significant working memory (WkM) deficits. However, unlike adults, findings of abnormal activity in the prefrontal cortex in early-onset schizophrenia (EOS) are not consistently reported. Since WkM

  11. The Concept of Schizophrenia: From Unity to Diversity

    OpenAIRE

    Heinz Häfner

    2014-01-01

    After over 100 years of research without clarifying the aetiology of schizophrenia, a look at the current state of knowledge in epidemiology, genetics, precursors, psychopathology, and outcome seems worthwhile. The disease concept, created by Kraepelin and modified by Bleuler, has a varied history. Today, schizophrenia is considered a polygenic disorder with onset in early adulthood, characterized by irregular psychotic episodes and functional impairment, but incident cases occur at all ages ...

  12. MRI-based diagnostic biomarkers for early onset pediatric multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Martin Weygandt

    2015-01-01

    Full Text Available Currently, it is unclear whether pediatric multiple sclerosis (PMS is a pathoetiologically homogeneous disease phenotype due to clinical and epidemiological differences between early and late onset PMS (EOPMS and LOPMS. Consequently, the question was raised whether diagnostic guidelines need to be complemented by specific EOPMS markers. To search for such markers, we analyzed cerebral MRI images acquired with standard protocols using computer-based classification techniques. Specifically, we applied classification algorithms to gray (GM and white matter (WM tissue probability parameters of small brain regions derived from T2-weighted MRI images of EOPMS patients (onset <12 years, LOPMS patients (onset ≥12 years, and healthy controls (HC. This was done for PMS subgroups matched for disease duration and participant age independently. As expected, maximal diagnostic information for distinguishing PMS patients and HC was found in a periventricular WM area containing lesions (87.1% accuracy, p < 2.2 × 10−5. MRI-based biomarkers specific for EOPMS were identified in prefrontal cortex. Specifically, a coordinate in middle frontal gyrus contained maximal diagnostic information (77.3%, p = 1.8 × 10−4. Taken together, we were able to identify biomarkers reflecting pathognomonic processes specific for MS patients with very early onset. Especially GM involvement in the separation between PMS subgroups suggests that conventional MRI contains a richer set of diagnostically informative features than previously assumed.

  13. Hyper-coherence and increased energy of gamma oscillations in patient with first onset schizophrenia and cerebral white matter damage

    Directory of Open Access Journals (Sweden)

    Jonak Kamil

    2016-09-01

    Full Text Available Background: According to current knowledge, gamma frequency is closely related to the functioning of neural networks underlying the basic activity of the brain and mind. Disorders in mechanisms synchronizing brain activity observed in patients diagnosed with schizophrenia are at the roots of neurocognitive disorders and psychopathological symptoms of the disease. Synchronization mechanisms are also related to the structure and functional effectiveness of the white matter. So far, not many analysis has been conducted concerning changes in the image of high frequency in patients with comorbid schizophrenia and white matter damage. The aim of this research was to present specific features of gamma waves in subjects with different psychiatric diagnoses and condition of brain structure.

  14. A common genetic background could explain early-onset Crohn's disease.

    Science.gov (United States)

    Bianco, Anna Monica; Zanin, Valentina; Girardelli, Martina; Magnolato, Andrea; Martelossi, Stefano; Martellossi, Stefano; Tommasini, Alberto; Marcuzzi, Annalisa; Crovella, Sergio

    2012-04-01

    Crohn's disease (CD) is a multifactorial disease, in which environmental, microbial and genetic factors play important roles. CD is characterized by a chronic granulomatous inflammation by necrotic scarring with aspects of full-thickness wall. In spite of affecting mainly young adults, sometimes, CD can be present in the first year of life (early onset Crohn disease, EOCD) showing an unpredictable course and being often more severe than at older ages. In this paper we propose the hypothesis that EOCD patients should be analyzed using a Mendelian approach with family studies aimed to identify new loci directly involved in the early onset Crohn's disease. So we will leave the classic association study approach used until now for the identification of genes responsible for susceptibility to CD and propose linkage family analysis as alternative and powerful tool for the identification of new genetic variants associated with familiar cases of EOCD.

  15. Early onset pneumonia following pulmonary contusion: the case of Stonewall Jackson.

    Science.gov (United States)

    Lively, Mathew W

    2012-03-01

    Confederate Lieutenant General Thomas J. "Stonewall" Jackson was wounded by his own men at the Battle of Chancellorsville during the American Civil War. While being removed from the field, Jackson fell from the litter and struck the right side of his chest on a large stone or stump. Four days following the amputation of his left arm, Jackson developed pneumonia in his right lung. His treating physicians believed the infection developed secondary to a pulmonary contusion that occurred when he fell from the litter. Pulmonary contusions are an independent risk factor in the development of post-traumatic pneumonia and an infection that occurs within 72 to 96 hours of injury is termed an early onset pneumonia. The nature and timing of Stonewall Jackson's illness following his wounding is consistent with the modem diagnosis of early onset pneumonia following chest trauma.

  16. A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy

    Science.gov (United States)

    Smith, Sarah J.; Wang, Jeffrey C.; Gupta, Vandana A.; Dowling, James J.

    2017-01-01

    Merosin deficient congenital muscular dystrophy (MDC1A) is a severe neuromuscular disorder with onset in infancy that is associated with severe morbidities (particularly wheelchair dependence) and early mortality. It is caused by recessive mutations in the LAMA2 gene that encodes a subunit of the extracellular matrix protein laminin 211. At present, there are no treatments for this disabling disease. The zebrafish has emerged as a powerful model system for the identification of novel therapies. However, drug discovery in the zebrafish is largely dependent on the identification of phenotypes suitable for chemical screening. Our goal in this study was to elucidate novel, early onset abnormalities in the candyfloss (caf) zebrafish, a model of MDC1A. We uncovered and characterize abnormalities in spontaneous coiling, the earliest motor movement in the zebrafish, as a fully penetrant change specific to caf mutants that is ideal for future drug testing. PMID:28241031

  17. Interaction between parental psychosis and early motor development and the risk of schizophrenia in a general population birth cohort

    Science.gov (United States)

    Keskinen, E.; Marttila, A.; Marttila, R.; Jones, P.B.; Murray, G.K.; Moilanen, K.; Koivumaa-Honkanen, H.; Mäki, P.; Isohanni, M.; Jääskeläinen, E.; Miettunen, J.

    2015-01-01

    Background Delayed motor development in infancy and family history of psychosis are both associated with increased risk of schizophrenia, but their interaction is largely unstudied. Aim To investigate the association of the age of achieving motor milestones and parental psychosis and their interaction in respect to risk of schizophrenia. Methods We used data from the general population-based prospective Northern Finland Birth Cohort 1966 (n = 10,283). Developmental information of the cohort members was gathered during regular visits to Finnish child welfare clinics. Several registers were used to determine the diagnosis of schizophrenia among the cohort members and psychosis among the parents. Altogether 152 (1.5%) individuals had schizophrenia by the age of 46 years, with 23 (15.1%) of them having a parent with psychosis. Cox regression analysis was used in analyses. Results Parental psychosis was associated (P < 0.05) with later achievement of holding the head up, grabbing an object, and walking without support. In the parental psychosis group, the risk for schizophrenia was increased if holding the head up (hazard ratio [HR]: 2.46; degrees of freedom [df] = 1; 95% confidence interval [95% CI]: 1.07–5.66) and touching the thumb with the index finger (HR: 1.84; df = 1; 95% CI: 1.11–3.06) was later. In the group without parental psychosis, a delay in the following milestones increased the risk of schizophrenia: standing without support and walking without support. Parental psychosis had an interaction with delayed touching thumb with index finger (HR: 1.87; df = 1; 95% CI: 1.08–3.25) when risk of schizophrenia was investigated. Conclusions Parental psychosis was associated with achieving motor milestones later in infancy, particularly the milestones that appear early in a child's life. Parental psychosis and touching the thumb with the index finger had a significant interaction on risk of schizophrenia. Genetic risk for psychosis may interact

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

    OpenAIRE

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

    2016-01-01

    Objective: 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. Method: Using the EDY-Q, a total of 1444 children aged 8-13 years were screened in elementary schools in Switzerland v...

  19. Does Diagnostic Classification of Early-Onset Psychosis Change over Follow-Up?

    Science.gov (United States)

    Fraguas, David; de Castro, Maria J.; Medina, Oscar; Parellada, Mara; Moreno, Dolores; Graell, Montserrat; Merchan-Naranjo, Jessica; Arango, Celso

    2008-01-01

    Objective: To examine the diagnostic stability and the functional outcome of patients with early-onset psychosis (EOP) over a 2-year follow-up period. Methods: A total of 24 patients (18 males (75%) and 6 females (25%), mean age [plus or minus] SD: 15.7 [plus or minus] 1.6 years) with a first episode of EOP formed the sample. Psychotic symptoms…

  20. CYP450 polymorphisms as risk factors for early-onset lung cancer: gender-specific differences.

    Science.gov (United States)

    Timofeeva, Maria N; Kropp, Silke; Sauter, Wiebke; Beckmann, Lars; Rosenberger, Albert; Illig, Thomas; Jäger, Birgit; Mittelstrass, Kirstin; Dienemann, Hendrik; Bartsch, Helmut; Bickeböller, Heike; Chang-Claude, Jenny C; Risch, Angela; Wichmann, Heinz-Erich

    2009-07-01

    Cytochrome P450 (CYP) enzymes, involved in metabolism of tobacco carcinogens, are also involved in estrogen metabolism and many are regulated by estrogens. These genes may thus be of relevance to gender-specific differences in lung cancer risk, particularly in early-onset lung cancer, where a high proportion of women is observed. We conducted a case-control study to investigate genetic polymorphisms in cytochromes that might modify the risk of developing early-onset lung cancer. In total, 638 Caucasian patients under the age of 51 with primary lung cancer and 1300 cancer-free control individuals, matched by age and sex, were included in this analysis. Thirteen polymorphisms in the CYP1A1, CYP1B1, CYP2A13, CYP3A4 and CYP3A5 genes were analyzed. No significant association was found for any of the analyzed polymorphisms and lung cancer risk overall. However, among women, a significantly increased risk of early-onset lung cancer was observed for carriers of the minor allele of CYP1B1 SNP rs1056836 [odds ratio (OR) 1.97; 95% confidence interval (CI) 1.32-2.94; P lung cancer risk was observed in the group of women carriers of the minor allele of CYP2A13 SNP rs1709084 (OR 1.64; 95% CI 1.00-2.70; P = 0.05). The effect of these two polymorphisms was shown to be modified by smoking. Haplotype analysis was performed for CYP1B1 and CYP2A13. No differences between cases and controls were observed for both genes (P = 0.63 and P = 0.42 for CYP1B1 and CYP2A13, respectively). Our results suggest that the CYP1B1 and the CYP2A13 genotypes may contribute to individual susceptibility to early-onset lung cancer in women.

  1. Executive Abilities as Reflected by Clock Hand Placement: Frontotemporal Dementia Versus Early-Onset Alzheimer Disease.

    Science.gov (United States)

    Barrows, Robin J; Barsuglia, Joseph; Paholpak, Pongsatorn; Eknoyan, Donald; Sabodash, Valeriy; Lee, Grace J; Mendez, Mario F

    2015-12-01

    The clock-drawing test (CDT) is widely used in clinical practice to diagnose and distinguish patients with dementia. It remains unclear, however, whether the CDT can distinguish among the early-onset dementias. Accordingly, we examined the ability of both quantitative and qualitative CDT analyses to distinguish behavioral variant frontotemporal dementia (bvFTD) and early-onset Alzheimer disease (eAD), the 2 most common neurodegenerative dementias with onset <65 years of age. We hypothesized that executive aspects of the CDT would discriminate between these 2 disorders. The study compared 15 patients with bvFTD and 16 patients with eAD on the CDT using 2 different scales and correlated the findings with neuropsychological testing and magnetic resonance imaging. The total CDT scores did not discriminate bvFTD and eAD; however, specific analysis of executive hand placement items successfully distinguished the groups, with eAD exhibiting greater errors than bvFTD. The performance on those executive hand placement items correlated with measures of naming as well as visuospatial and executive function. On tensor-based morphometry of the magnetic resonance images, executive hand placement correlated with right frontal volume. These findings suggest that lower performance on executive hand placement items occurs with involvement of the right dorsolateral frontal-parietal network for executive control in eAD, a network disproportionately affected in AD of early onset. Rather than the total performance on the clock task, the analysis of specific errors, such as executive hand placement, may be useful for early differentiation of eAD, bvFTD, and other conditions.

  2. Gender-related differences in severe, early-onset chronic obstructive pulmonary disease.

    Science.gov (United States)

    Silverman, E K; Weiss, S T; Drazen, J M; Chapman, H A; Carey, V; Campbell, E J; Denish, P; Silverman, R A; Celedon, J C; Reilly, J J; Ginns, L C; Speizer, F E

    2000-12-01

    Men have higher prevalence rates of chronic obstructive pulmonary disease (COPD) than women, which has been attributed to the historically higher rates of cigarette smoking in males. However, the increased rates of cigarette smoking in females within the last several decades have been associated with steadily increasing rates of COPD in women. As part of a study of the genetics of severe, early-onset COPD, we assembled a group of 84 probands with severe, early-onset COPD (without severe alpha(1)-antitrypsin deficiency) and 348 of their first-degree relatives. We found a markedly elevated prevalence (71.4%) of females among the early-onset COPD probands. Among the entire group of first-degree relatives of early-onset COPD probands, univariate analysis demonstrated similar spirometric values and bronchodilator responsiveness in males and females; however, among current or ex-smokers, female first-degree relatives had significantly lower FEV(1)/ FVC (81.4 +/- 17.2% in females versus 87.0 +/- 12.9% in males, p = 0.009) and significantly greater bronchodilator responsiveness (expressed as percentage of baseline FEV(1)) (7.7 +/- 9.4% pred in females versus 4.1 +/- 6.4% pred in males, p = 0.002). Female smoking first-degree relatives were significantly more likely to demonstrate profound reductions in FEV(1) (< 40% pred) than male smoking first-degree relatives (p = 0. 03). Multivariate analysis, performed with generalized estimating equations, demonstrated that current or ex-smoking female first-degree relatives had significantly greater risk of FEV(1) < 80% pred (OR 1.91, 95% CI 1.03- 3.54), FEV(1) < 40% pred (OR 3.56, 95% CI 1.08-11.71), and bronchodilator response greater than 10% of baseline FEV(1) (OR 4.74, 95% CI 1.91-11.75). These results suggest that women may be more susceptible to the development of severe COPD.

  3. Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.

    Science.gov (United States)

    Flanagan, Sarah E; Haapaniemi, Emma; Russell, Mark A; Caswell, Richard; Lango Allen, Hana; De Franco, Elisa; McDonald, Timothy J; Rajala, Hanna; Ramelius, Anita; Barton, John; Heiskanen, Kaarina; Heiskanen-Kosma, Tarja; Kajosaari, Merja; Murphy, Nuala P; Milenkovic, Tatjana; Seppänen, Mikko; Lernmark, Åke; Mustjoki, Satu; Otonkoski, Timo; Kere, Juha; Morgan, Noel G; Ellard, Sian; Hattersley, Andrew T

    2014-08-01

    Monogenic causes of autoimmunity provide key insights into the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes. These findings emphasize the critical role of STAT3 in autoimmune disease and contrast with the germline inactivating STAT3 mutations that result in hyper IgE syndrome.

  4. Expectant management of early-onset severe preeclampsia. Literature review and treatment protocol

    Directory of Open Access Journals (Sweden)

    César Augusto Rendón

    2013-12-01

    Full Text Available The main goal of expectant management in women with severe preeclampsia (PE remote from term is to improve neonatal outcome, without compromising maternal health. Studies suggest that expectant management in early-onset preeclampsia may be associated with decreased neonatal morbidity, but also conclude that further studies are needed to assess maternal safety. The aim of this review is to assess the current issue evidence regarding the management of severe preeclampsia remote from term.

  5. Association between Interleukin-10 gene polymorphisms and risk of early-onset preeclampsia.

    Science.gov (United States)

    Song, Limeng; Zhong, Mei

    2015-01-01

    We conducted a case-control study to investigate the role of IL-10 -1082A/G (rs1800896), -819T/C (rs1800871), and -592A/C (rs1800872) polymorphisms in the development of early-onset preeclampsia. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay was applied to assess the polymorphisms of IL-10 -1082A/G (rs1800896), -819T/C (rs1800871), and -592A/C (rs1800872). The genotype distributions of IL-10 -1082A/G (rs1800896), -819T/C (rs1800871), and -592A/C (rs1800872) confirmed with HWE in the controls, and the P value for HWE was 0.41, 0.38 and 0.26, respectively. The results of the multivariate logistic regression analysis revealed that the association of individuals expressing the CC genotype and AC+CC of IL-10 -592A/C (rs1800872) with a significantly increased risk of early-onset preeclampsia in co-dominant and dominant models, compared to the AA genotype; the OR (95% CI) for these individuals was determined to be 2.09 (1.12-3.90) and 1.66 (1.03-2.71), respectively. In the recessive model, we found that CC genotype of IL-10 -592A/C (rs1800872) was associated with the increased risk of early-onset preeclampsia when compared with AA+AC genotype (OR = 1.67; 95% CI = 1.01-2.92). In conclusion, our study has indicated that IL-10 -592A/C (rs1800872) polymorphism was associated with an increased risk of early-onset preeclampsia in a Chinese population.

  6. [The early reception of the notion of schizophrenia of Eugen Bleuler in Austria].

    Science.gov (United States)

    Gabriel, Eberhard

    2012-01-01

    The 100th anniversary of Eugen Bleulers "Dementia praecox oder Gruppe der Schizophrenien" (Dementia praecox oder Gruppe der Schizophrenien. Leipzig: Deuticke; 1911) motivates a retrospective description of the early reception of the word and its meaning. It occurred in two phases: 1911-1914 (focus of that paper) and 1918-1929. The protagonists were Erwin Stransky (mainly in the first phase), Josef Berze (mainly in the second), Julius Wagner-Jauregg and Carl Meyer, leading motives criticisms of the further expansion of the earlier Kraepelinian notion of dementia praecox and of Bleulers' psychoanalytical interpreting of the disorder, but acceptance of the neologism 'schizophrenia' because of its meaning ("dissociative character") and the possibility to derive an adjective. The new word replaced the old denomination after world war I during the 1920s.

  7. Neurological soft signs in juvenile patients with Asperger syndrome, early-onset psychosis, and healthy controls.

    Science.gov (United States)

    Mayoral, María; Merchán-Naranjo, Jessica; Rapado, Marta; Leiva, Marta; Moreno, Carmen; Giráldez, Marisa; Arango, Celso; Parellada, Mara

    2010-11-01

    The study of neurological soft signs (NSS) in patients with Asperger syndrome may help us to elucidate the neurological basis of this disorder and to clarify its relationship with other neurodevelopmental disorders. The goal of this study was to compare the prevalence of NSS in a sample of patients with Asperger syndrome, early-onset psychosis and healthy controls. NSS were assessed by means of the Neurological Evaluation Scale in a sample of 29 patients with Asperger syndrome (mean age = 12.86 ± 2.58 years), 30 patients with first-episode early-onset psychoses (mean age 14.17 ± 1.02 years) and 30 healthy controls (mean age 12.33 ± 2.69 years). Significant group differences were found between Asperger syndrome patients and healthy controls both in all the Neurological Evaluation Scale subscales and in the Neurological Evaluation Scale total score. There were no significant differences between both groups of patients in any of the Neurological Evaluation Scale scores. NSS are more prevalent in Asperger syndrome than in healthy controls. The NSS profile was not disorder-specific in our samples of patients with Asperger syndrome and early-onset psychoses. © 2010 Blackwell Publishing Asia Pty Ltd.

  8. Maternal and feto-placental phenotypes of early-onset severe preeclampsia.

    Science.gov (United States)

    Pilliod, Rachel A; Feinberg, Bruce B; Burwick, Richard M

    2016-01-01

    To characterize maternal and feto-placental phenotypes of severe preeclampsia that trigger early-onset delivery. A retrospective cohort review of pregnant women receiving care from 2000 to 2010. Subjects with early-onset severe preeclampsia delivering between 20 and 32 weeks were identified excluding multiple gestations or major anomalies. We defined indications for delivery as maternal (i.e. severe headache or abnormal laboratory parameters), feto-placental (i.e. non-reassuring tracing) or mixed (i.e. both maternal and feto-placental factors). To characterize the groups, demographic, clinical, laboratory, ultrasound and pathology data were abstracted. Statistical analysis was conducted. We identified 164 subjects meeting inclusion criteria. Indications for delivery were maternal (57.3%), feto-placental (29.9%) or mixed (12.8%). Compared to neonates delivered for maternal indications, birthweight was significantly lower among neonates delivered for feto-placental or mixed indications (p feto-placental factors (p = 0.02). Women delivered for maternal indications had more significant lab abnormalities than women delivered for feto-placental or mixed indications. In attempting to classify early-onset severe preeclampsia by delivery indication, we found patterns to suggest that feto-placental and maternal phenotypes of disease may have distinct pathophysiologic underpinnings.

  9. Beyond mice: Emerging and transdisciplinary models for the study of early-onset myopathies.

    Science.gov (United States)

    Jagla, Krzysztof; Kalman, Benoit; Boudou, Thomas; Hénon, Sylvie; Batonnet-Pichon, Sabrina

    2017-04-01

    The use of the adapted models to decipher patho-physiological mechanisms of human diseases is always a great challenge. This is of particular importance for early-onset myopathies, in which pathological mutations often impact not only on muscle structure and function but also on developmental processes. Mice are currently the main animal model used to study neuromuscular disorders including the early-onset myopathies. However strategies based on simple animal models and on transdisciplinary approaches exploring mechanical muscle cell properties emerge as attractive, non-exclusive alternatives. These new ways provide valuable opportunities to improve our knowledge on how mechanical, biochemical, and genetic/epigenetic cues modulate the formation, organization and function of muscle tissues. Here we provide an overview of how single cell and micro-tissue engineering in parallel to non-mammalian, Drosophila and zebrafish models could contribute to filling gaps in our understanding of pathogenic mechanisms underlying early-onset myopathies. We also discuss their potential impact on designing new diagnostic and therapeutic strategies. Copyright © 2016 Elsevier Ltd. All rights reserved.

  10. Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors

    Directory of Open Access Journals (Sweden)

    Evans DGR

    2013-07-01

    Full Text Available D Gareth R Evans,1 Sarah Louise Ingham21Genetic Medicine, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, St Mary's Hospital, Manchester, UK; 2Centre for Health Informatics, Institute of Population Health, The University of Manchester, Manchester, UKAbstract: There are several hereditary diseases that are a predisposition to early-onset tumors. These include syndromic conditions like neurofibromatosis 1 and 2, von Hippel–Lindau syndrome, Gorlin syndrome, multiple endocrine neoplasia, and familial adenomatous polyposis; and conditions which are usually not possible to diagnose clinically in a single individual, such as Lynch syndrome and BRCA1/2. Understanding of the mortality in hereditary cancer predisposing diseases is important for developing effective disease treatment programs. A number of studies have been undertaken to investigate the genetic predictors, prevalence and incidence, and treatment outcomes of these diseases; however, the majority examine only the most common of these diseases (eg, neurofibromatosis or BRCA, or look into postoperative survival. The mortality of individuals who are diagnosed with one of these hereditary diseases remains an area for investigation. This review is the first to attempt identification of studies investigating life expectancy in hereditary diseases which predispose to early-onset tumors.Keywords: mortality, survival, life expectancy, early-onset, tumors

  11. Prediction of early-onset asthma in genetically at-risk children.

    Science.gov (United States)

    Mrazek, D A; Klinnert, M; Mrazek, P J; Brower, A; McCormick, D; Rubin, B; Ikle, D; Kastner, W; Larsen, G; Harbeck, R; Jones, J

    1999-02-01

    The W.T. Grant Foundation Asthma Risk Study was designed to prospectively examine children who were considered at a genetically increased risk for the development of asthma. The respective contributions of 11 potential risk factors, both environmental and biological, were assessed in order to determine their relative roles in affecting the early onset of asthma. This is a report of an inception cohort of children born to asthmatic mothers and followed for a 3-year period. All 150 families were recruited from the general community and living within 2 h of the National Jewish Center for Immunology and Respiratory Medicine (Denver, CO). Mothers in the index risk sample had been previously diagnosed with asthma and were recruited during their pregnancy through physician referrals and media solicitation. The index sample of 150 families was 92% Caucasian and predominantly middle class. The mean age of mothers was 29.3 years, and of fathers, 31.1 years. The main outcome was the determination of the early onset of asthma and its association with quantified risk factors. By age 3 years, 14 of the 150 children had developed asthma. Frequent illness, IgE levels at age 6 months, parenting difficulties, and early eczema were significantly associated with the onset of asthma (P = 0.003, P = 0.006, P = 0.01, and P = 0.03, respectively). Only frequent illness, elevated serum IgE levels, and parenting difficulties entered a predictive model where they were independently related to the development of asthma.

  12. Early impact basins and the onset of plate tectonics. Ph.D. Thesis - Maryland Univ.

    Science.gov (United States)

    Frey, H.

    1977-01-01

    The fundamental crustal dichotomy of the Earth (high and low density crust) was established nearly 4 billion years ago. Therefore, subductable crust was concentrated at the surface of the Earth very early in its history, making possible an early onset for plate tectonics. Simple thermal history calculations spanning 1 billion years show that the basin forming impact thins the lithosphere by at least 25%, and increases the sublithosphere thermal gradients by roughly 20%. The corresponding increase in convective heat transport, combined with the highly fractured nature of the thinned basin lithosphere, suggest that lithospheric breakup or rifting occurred shortly after the formation of the basins. Conditions appropriate for early rifting persisted from some 100,000,000 years following impact. We suggest a very early stage of high temperature, fast spreading "microplate" tectonics, originating before 3.5 billion years ago, and gradually stabilizing over the Archaean into more modern large plate or Wilson Cycle tectonics.

  13. Combined Effect of TLR2 Gene Polymorphism and Early Life Stress on the Age at Onset of Bipolar Disorders

    OpenAIRE

    José Oliveira; Bruno Etain; Mohamed Lajnef; Nora Hamdani; Meriem Bennabi; Djaouida Bengoufa; Aparna Sundaresh; Arij Ben Chaabane; Frank Bellivier; Chantal Henry; Jean-Pierre Kahn; Dominique Charron; Rajagopal Krishnamoorthy; Marion Leboyer; Ryad Tamouza

    2015-01-01

    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 in...

  14. 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.

  15. Aberrant functional organization and maturation in early-onset psychosis: evidence from magnetoencephalography.

    Science.gov (United States)

    Wilson, Tony W; Rojas, Donald C; Teale, Peter D; Hernandez, Olivia O; Asherin, Ryan M; Reite, Martin L

    2007-10-15

    Studies of the location of somatosensory and auditory cortical responses have shown anomalous hemispheric asymmetries in a variety of neurodevelopmental disorders. To date, abnormal asymmetries in the somatosensory region have shown greater specificity, being reported only in psychotic adults. This study examines the functional organization of the somatosensory cortices using magnetoencephalography in adolescents with childhood-onset psychotic disorders. Eighteen young outpatients with history of psychotic illness and 15 healthy adolescents participated. Both groups underwent stimulation of the index finger as magnetoencephalography was acquired from the contralateral hemisphere. Neural generators of the M50 somatosensory response were modeled using an equivalent current dipole for each hemisphere, and later investigated for systematic variation with diagnosis. Consistent with adult psychosis data, adolescent patients showed hemispheric symmetry in the anterior-posterior dimension. In controls, a reversed pattern of hemispheric asymmetry was observed relative to previous findings in normal adults [Reite, M., Teale, P., Rojas, D.C., Benkers, T.L., Carlson, J., 2003. Anomalous somatosensory cortical localization in schizophrenia. American Journal of Psychiatry 160, 2148-2153], but trend-level correlations suggested source location became more adult-like during the transition from adolescence to adulthood. Source parameters also exhibited robust inter-hemispheric correlations only in adolescent controls. In sum, source locations, patterns of cerebral lateralization, and inter-hemispheric correlations all distinguish patients from their normally developing cohort. These findings suggest aberrant maturation underlies the reduction in cerebral laterality associated with psychosis.

  16. Tumor necrosis factor-alpha and interleukin-6 in early-onset neonatal sepsis

    Directory of Open Access Journals (Sweden)

    Prambudi Rukmono

    2016-05-01

    Full Text Available Background Neonatal sepsis remains a major cause of mortality and morbidity in newborns. Early-onset neonatal sepsis occurs in infants under the age of 72 hours, while late-onset neonatal sepsis occurs in infants over the age of 72 hours and may be due to nosocomial infection. Diagnosing neonatal sepsis is a challenge, as its clinical symptoms are not clear. Corroborating tests include routine blood, C-reactive protein (CRP, serology, tumor necrosis factor-alpha (TNF-α, and interleukin-6 (IL-6 examinations.Objective To compare the TNF-α and IL-6 levels in patients with proven and unproven early-onset neonatal sepsis (EONSMethods This case-control study was done in the Perinatology Unit, Abdul Moeloek Hospital, Lampung. Subjects were under the age of 72 hours with risk factors and clinical symptoms of sepsis. They underwent routine blood tests and blood cultures. Infants with positive cultures were considered to have proven sepsis (26 subjects and infants with negative blood cultures were considered to have unproven sepsis (26 subjects. All subjects underwent serological examinations of TNF-α and IL-6.Results There were no differences in the basic characteristics of subjects between the two groups. Levels of TNF-α in the sepsis group were significantly higher than in the unproven group [(28.30 vs. 10.96 pg/mL, respectively (P=0.001]. Furthermore, Il-6 was significantly higher in the proven sepsis group than in the unproven sepsis group [(28.3 vs. 9.69 pg/mL, respectively (P=0.006].Conclusion Levels of TNF-alpha and IL-6 are significantly higher in infants with proven than unproven early-onset neonatal sepsis.

  17. Early- versus Late-Onset Fetal Growth Restriction Differentially Affects the Development of the Fetal Sheep Brain.

    Science.gov (United States)

    Alves de Alencar Rocha, Anna Karynna; Allison, Beth J; Yawno, Tamara; Polglase, Graeme R; Sutherland, Amy E; Malhotra, Atul; Jenkin, Graham; Castillo-Melendez, Margie; Miller, Suzanne L

    2017-01-01

    Fetal growth restriction (FGR) is a common complication of pregnancy, principally caused by suboptimal placental function, and is associated with high rates of perinatal mortality and morbidity. Clinical studies suggest that the time of onset of placental insufficiency is an important contributor towards the neurodevelopmental impairments that are evident in children who had FGR. It is however currently unknown how early-onset and late-onset FGR differentially affect brain development. The aim of this study was to examine neuropathology in early-onset and late-onset FGR fetal sheep and to determine whether they differentially alter brain development. We induced placental insufficiency and FGR via single umbilical artery ligation at either 88 days (early-onset) or 105 days (late-onset) of fetal sheep gestation (term is approx. 147 days), reflecting a period of rapid white matter brain development. Fetal blood samples were collected for the first 10 days after surgery, and all fetuses were sacrificed at 125 days' gestation for brain collection and subsequent histopathology. Our results show that early-onset FGR fetuses became progressively hypoxic over the first 10 days after onset of placental insufficiency, whereas late-onset FGR fetuses were significantly hypoxic compared to controls from day 1 after onset of placental insufficiency (SaO2 46.7 ± 7.4 vs. 65.7 ± 3.9%, respectively, p = 0.03). Compared to control brains, early-onset FGR brains showed widespread white matter injury, with a reduction in both CNPase-positive and MBP-positive density of staining in the periventricular white matter (PVWM), subcortical white matter, intragyral white matter (IGWM), subventricular zone (SVZ), and external capsule (p development that principally mediates altered brain development associated with FGR. © 2017 S. Karger AG, Basel.

  18. The occurrence and nature of early signs of schizophrenia and psychotic mood disorders among former child and adolescent psychiatric patients followed into adulthood

    Directory of Open Access Journals (Sweden)

    Rydelius Per-Anders

    2008-10-01

    Full Text Available Abstract Background This investigation was designed to characterize psychotic disorders among patients originally treated as in- and outpatients by child and adolescent psychiatric services and subsequently followed-up into mid-adulthood. The age at the first onset on symptoms, possible changes in diagnoses, early signs noted prior to or upon admission to child and adolescent psychiatric care and possible differences between patients with early- and later-onset disorder were of particular interest. Methods The study population consisted of patients (285 in- and 1115 outpatients born between 1957 and 1976 and admitted to and treated by child and adolescent psychiatric care units in Jämtland County, Sweden, between 1975 and 1990. The status of their mental health was monitored until 2003 using official registries and hospital records. Diagnoses based on the ICD-8 and -9 systems, which were used in Sweden from 1968–1997, converted to diagnoses according to ICD-10, which has been in use since 1997. The Comprehensive Assessment of at Risk Mental States was employed to assess the information concerning psychopathology provided by the hospital records. Results By the end of the follow-up period 62 former child and adolescent psychiatric patients (36 females and 26 males, 4.4% of the entire study group, had received an ICD-10 diagnosis of "F20–29: Schizophrenia, schizotypal and delusional disorders" (48 and/or "F30–39: Psychotic mood disorders" (14. One-third (21 of these individuals were given their initial diagnosis of psychosis in connection with child and adolescent psychiatric care. Two of these 21 were not treated later for this disorder in general (adult psychiatric care whereas the remaining 19 individuals were diagnosed for the same type of disorder as adults. The other 41 patients were diagnosed as psychotic only in connection with general (adult psychiatric care. The mean age at the time of first onset of symptoms was 21.4 years (SD 6

  19. Overlapping and disease specific aspects of impulsivity in children and adolescents with schizophrenia spectrum disorders or Attention-Deficit/Hyperactivity Disorder

    DEFF Research Database (Denmark)

    Jepsen, Jens Richardt Møllegaard; Rydkjær, Jacob; Fagerlund, Birgitte

    Objectives: To identify disease specific and overlapping aspects of impulsivity in children and adolescents with early-onset schizophrenia spectrum disorders or ADHD. Methods: Motor impulsivity (Stop Signal Task), reflection impulsivity (Information Sampling Task), and trait impulsivity (Barratt...... Impulsiveness Scale) are compared between three groups of children and adolescents between 12 and 17 years of age: patients with early-onset schizophrenia spectrum disorders (N=29), patients with ADHD (N=29), and healthy controls (N=45). Results: Preliminary results: Reflection impulsivity is significantly...

  20. Cognitive enhancing agents in schizophrenia and bipolar disorder.

    Science.gov (United States)

    Vreeker, Annabel; van Bergen, Annet H; Kahn, René S

    2015-07-01

    Cognitive dysfunction is a core feature of schizophrenia and is also present in bipolar disorder (BD). Whereas decreased intelligence precedes the onset of psychosis in schizophrenia and remains relatively stable thereafter; high intelligence is a risk factor for bipolar illness but cognitive function decreases after onset of symptoms. While in schizophrenia, many studies have been conducted on the development of cognitive enhancing agents; in BD such studies are almost non-existent. This review focuses on the pharmacological agents with putative effects on cognition in both schizophrenia and bipolar illness; specifically agents targeting the dopaminergic, cholinergic and glutamatergic neurotransmitter pathways in schizophrenia and the cognitive effects of lithium, anticonvulsants and antipsychotics in BD. In the final analysis we conclude that cognitive enhancing agents have not yet been produced convincingly for schizophrenia and have hardly been studied in BD. Importantly, studies should focus on other phases of the illness. To be able to treat cognitive deficits effectively in schizophrenia, patients in the very early stages of the illness, or even before - in the ultra-high risk stages - should be targeted. In contrast, cognitive deficits occur later in BD, and therefore drugs should be tested in BD after the onset of illness. Hopefully, we will then find effective drugs for the incapacitating effects of cognitive deficits in these patients.

  1. PSEN1 and PRNP gene mutations: co-occurrence makes onset very early in a family with FTD phenotype.

    Science.gov (United States)

    Bernardi, Livia; Anfossi, Maria; Gallo, Maura; Geracitano, Silvana; Cola, Rosanna; Puccio, Gianfranco; Curcio, Sabrina A M; Frangipane, Francesca; Mirabelli, Maria; Clodomiro, Alessandra; Di Lorenzo, Raffaele; Smirne, Nicoletta; Maletta, Raffaele; Iapaolo, David; Bruni, Amalia C

    2011-01-01

    Prion protein (PRNP) gene mutations have recently been associated with clinical pictures resembling Frontotemporal dementia (FTD). We describe a novel seven extra-repeat insertional mutation in the PRNP gene in a family affected by early-onset autosomal dominant FTD previously reported as caused by a PSEN1 mutation in which there was inconsistency between clinical picture and genotype. Both mutations were pathogenic and showed a variable penetrance when present separately; when occurring together, the onset was very early, within the third decade of life. Genetic screening of the PRNP gene becomes of major importance in early onset autosomal dominant dementia.

  2. 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, Ron; Radovanovic, Mirjana; van Laar, Margriet; Fairman, Brian; Degenhardt, Louisa; Aguilar-Gaxiola, Sergio; Bruffaerts, Ronny; de Girolamo, Giovanni; Fayyad, John; Gureje, Oye; Maria Haro, Josep; Huang, Yueqin; Kostychenko, Stanislav; Lepine, Jean-Pierre; Matschinger, Herbert; Medina Mora, Maria Elena; Neumark, Yehuda; Ormel, Johan; Posada-Villa, Jose; Stein, Dan J.; Tachimori, Hisateru; Wells, J. Elisabeth; Anthony, James 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) ris

  3. 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, Ron; Radovanovic, Mirjana; van Laar, Margriet; Fairman, Brian; Degenhardt, Louisa; Aguilar-Gaxiola, Sergio; Bruffaerts, Ronny; de Girolamo, Giovanni; Fayyad, John; Gureje, Oye; Maria Haro, Josep; Huang, Yueqin; Kostychenko, Stanislav; Lepine, Jean-Pierre; Matschinger, Herbert; Medina Mora, Maria Elena; Neumark, Yehuda; Ormel, Johan; Posada-Villa, Jose; Stein, Dan J.; Tachimori, Hisateru; Wells, J. Elisabeth; Anthony, James 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) ris

  4. Identifying anomalously early spring onsets in the CESM large ensemble project

    Science.gov (United States)

    Labe, Zachary; Ault, Toby; Zurita-Milla, Raul

    2016-08-01

    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.

  5. Early-onset Alzheimer’s Disease: Nonamnestic Subtypes and Type 2 AD

    Science.gov (United States)

    Mendez, Mario F.

    2012-01-01

    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 E ε4 (APOE ε4) 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. PMID:23178565

  6. Concordance of bioactive vs. total immunoreactive serum leptin levels in children with severe early onset obesity.

    Science.gov (United States)

    Stanik, Juraj; Kratzsch, Jürgen; Landgraf, Kathrin; Scheuermann, Kathrin; Spielau, Ulrike; Gausche, Ruth; Gasperikova, Daniela; Kiess, Wieland; Körner, Antje

    2017-01-01

    Leptin secreted from adipose tissue signals peripheral energy status to the brain. Monogenic leptin deficiency results in severe early onset obesity with hyperphagia. Recently, a similar phenotype of inactivating leptin mutations but with preserved immunoreactivity and hence normal circulating immunoreactive leptin has been reported. We aimed to evaluate the proportion of bioactive leptin serum levels (compared to immunoreactive leptin) as a biomarker for the screening of leptin gene mutations causing monogenic obesity. Furthermore, we aimed to compare the immunoreactive and bioactive leptin levels associations with parameters of insulin resistance and insulin secretion in obese children and adolescents. We measured bioactive and immunoreactive leptin levels by enzyme-linked immunosorbent assays in fasting serum samples of 70 children with severe (BMI SDS >3) non-syndromic obesity with onset leptin gene was performed in probands with proportion of bioactive/immunoreactive leptin leptin were almost identical (41.1±25.2 vs. 41.1±25.4ng/mL). In three probands with the lowest bioactive leptin proportion (leptin gene. Compared to immunoreactive leptin, bioactive leptin showed similar and slightly better statistical associations with indices of insulin resistance in correlation and multivariate analyses. In our sample selected for severe early onset childhood obesity, we did not identify leptin gene mutations leading to decreased proportion of bioactive leptin. Nevertheless, the bioactive leptin levels were stronger associated with selected insulin secretion/resistance indices than the immunoreactive leptin levels.

  7. 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.

  8. An insight into early onset of scoliosis: new update information - a review.

    Science.gov (United States)

    Alsiddiky, A M

    2015-08-01

    Early-onset scoliosis is an onerous challenge to physicians. These patients are young with significant remaining growth potential. Thus, patients are likely to develop progressive deformities, cosmetic disfigurement and cardiopulmonary consequences warrant early intervention in many cases. The purpose of this review is to provide the readers with brief description of the disease, therapeutic modalities available and their indications and use. Publications and abstracts related to EOS in the last decade were carried out and synthesized into a review "an insight into early onset of scoliosis." A comprehensive understanding of the scoliosis, its impact on the thoracic development may guide in treatment, which is often required at a young age in these children to prevent irreversible pulmonary insufficiency. Current treatment techniques are based on multiple factors may include non-surgical strategies, such as Derotational body cast or brace in younger patients with curve treatment of spinal deformity should be considered when nonoperative measures are failed to arrest curve progression. Growing rods have been the mainstay treatment of early-onset scoliosis which require repeated surgeries for distraction and are associated with exponential increase in complications. The vertical expandable prosthetic titanium rib may be beneficial for those patients with congenital scoliosis and fused ribs and thoracic insufficiency syndrome. Shilla technique is an alternative to growing rods that avoids the morbidity of repeated lengthening. Growth modulation using staples or tethers shows promise for milder curvatures, but further follow-up is needed to define their use. Although new technologies have improved the treatment of children with EOS but it continues to be challenging with high complication rates.

  9. Recognising early onset neonatal sepsis: an essential step in appropriate antimicrobial use.

    Science.gov (United States)

    van Herk, Wendy; Stocker, Martin; van Rossum, Annemarie M C

    2016-07-05

    Early diagnosis and timely treatment of early onset neonatal sepsis (EOS) are essential to prevent life threatening complications. Subtle, nonspecific clinical presentation and low predictive values of biomarkers complicate early diagnosis. This uncertainty commonly results in unnecessary and prolonged empiric antibiotic treatment. Annually, approximately 395,000 neonates (7.9% of live term births) are treated for suspected EOS in the European Union, while the incidence of proven EOS varies between 0.01 and 0.53 per 1000 live births. Adherence to guidelines for the management of suspicion of EOS is poor. Pragmatic approaches to minimise overtreatment in neonates with suspected EOS, using combined stratified risk algorithms, based on maternal and perinatal risk factors, clinical characteristics of the neonate and sequential biomarkers are promising. Copyright © 2016 The British Infection Association. Published by Elsevier Ltd. All rights reserved.

  10. 青少年首发精神分裂症患者脑结构异常及其相关因素研究%structural brain abnormalities and clinical features in childhood-onset schizophrenia

    Institute of Scientific and Technical Information of China (English)

    杨春林; 潘伟刚; 马俊芳; 李军

    2016-01-01

    Objective To investigate the clinical features and structural brain abnormalities in childhood-onset schizophrenia. Methods Retrospective analysis clinical features and brain CT images of 379 patients diagnosed with schizophrenia from January 2013 to April 2016. The patients were divided into 2 groups;with(n = 39)and without(n = 340)structural brain abnormalities. Socio-demographic and clinical data were compared between two groups. To observe the abnormality rate of structure CT and the types of structural brain abnormalities and analyze the clinical features in childhood-onset schizophrenia. Results The abnormality rate of structure CT scan was 10. 3% . There were 17 cases with ventricular dilatation,11 cases with broadening of cerebral sulci,7 cases with enlarged cisterna magna,4 cases with arachnoid cyst. Compared to without structural brain abnormalities,childhood-onset schizophrenia with structural brain abnormalities significantly had younger age,more fre-quent abnormal maternal pregnancy( P 0.05).结论 青少年首发精神分裂症脑结构异常检出率较高,并且脑结构异常者起病年龄更小、母孕期异常更多,青少年精神分裂症脑结构异常可能为其神经生物学基础.

  11. 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.

  12. Case of early childhood-onset narcolepsy with cataplexy: comparison with a monozygotic co-twin.

    Science.gov (United States)

    Ito, Hiromichi; Mori, Kenji; Mori, Tatsuo; Goji, Aya; Kagami, Shoji

    2014-10-01

    We describe here a rare case of early childhood-onset (5 years of age) narcolepsy. This case was interesting because of the ability to compare the patient's symptoms to the condition of her healthy monozygotic co-twin sister. The only environmental difference between the co-twins was head injury, which may be associated with the presence of narcolepsy. The co-twin was extroverted, sociable, reliable, and dexterous. In contrast, the patient could be described as introverted, gentle, honest and persevering, but was weak at conversation, assessment of a situation, memory, planning, activity (she was inactive), a sense of time, understanding of an analog clock, operating efficiency, and physical education (due to obesity). The sisters showed the same degree of appetite and dexterity with their fingers. Narcolepsy is often under-recognized or underdiagnosed, especially when the onset occurs in childhood. When we observe preschoolers with excessive daytime sleepiness, we should consider the possibility of narcolepsy with cataplexy.

  13. Allergy to dust mites may contribute to early onset and severity of alopecia areata.

    Science.gov (United States)

    Li, S F; Zhang, X T; Qi, S L; Ye, Y T; Cao, H; Yang, Y Q; McElwee, K J; Zhang, X

    2015-03-01

    A higher risk of allergic diseases such as rhinitis, asthma and atopic eczema (atopic dermatitis) has been reported for patients with alopecia areata (AA) compared with the general population, but the significance of this is still largely unclear. To determine whether serum total or specific IgE play a role in the onset and severity of AA. We tested 461 serum samples from 351 patients with AA and 110 healthy controls (HC) for total IgE (tIgE) and specific IgE (sIgE) by ImmunoCAP-100 or in vitro test (IVT). The absolute value of tIgE was higher in patients with AA than in normal controls (P 120 IU/mL) detected in patients with AA (29.3%) was similar to that of HC (21.8%). Prevalences of raised sIgE against various allergens detected by ImmunoCAP-100 showed that Dermatophagoides pteronyssinus (Der p; 31.1%) and Dermatophagoides farinae (Der f; 29.0%) were the most common allergens. Similar results were found by IVT, with the most common response being against Der p/Der f (29.0%). However, the prevalences of tIgE and sIgE against dust mites (Der p and Der f) in patients with early-onset AA and severe AA were significantly higher than those with late-onset AA and mild AA (P = 0.02, P = 0.02 vs. P = 0.03 and P = 0.001, respectively). Notably, the increases in tIgE and sIgE were independent of atopy history. Allergy to dust mites may have an effect on the immune response in AA, and may contribute to its early onset and severity in patients of Chinese origin. © 2014 British Association of Dermatologists.

  14. Amyloid imaging with [(18)F]florbetapir in geriatric depression: early-onset versus late-onset.

    Science.gov (United States)

    Tateno, Amane; Sakayori, Takeshi; Higuchi, Makoto; Suhara, Tetsuya; Ishihara, Keiichi; Kumita, Shinichiro; Suzuki, Hidenori; Okubo, Yoshiro

    2015-07-01

    We examined patients with mild cognitive impairment (MCI) with a history of geriatric depression (GD) and healthy controls (HC) to evaluate the effect of beta-amyloid (Aβ) pathology on the pathology of GD by using [(18)F]florbetapir PET. Thirty-three elderly patients (76.7 ± 4.2 years) and 22 healthy controls (HC; 72.0 ± 4.5 years, average ± SD) were examined by [(18)F]florbetapir positron emission tomography (PET) to quantify the standard uptake value ratio (SUVR) as the degree of amyloid accumulation, by MRI to determine the degree of atrophy, by Mini-Mental State Examination for cognitive functions, and by Geriatric Depression Scale for the severity of depression, and by Clinical Dementia Rating for activity of daily living (ADL). The cut-off value of 1.08 for SUVR was defined as Aβ-positive. Of the patients and HC, 39.4% and 27.3%, respectively, were beta-amyloid-positive. The onset age of GD was significantly correlated with SUVR (r = 0.44, p depression and ADL, and brain atrophy. GD + Aβ had significantly older average ± SD age at onset of GD (73.6 ± 7.1 versus 58.7 ± 17.8, p < 0.01) and significantly shorter average ± SD time between onset of GD and PET scan day (3.1 ± 5.2 years versus 18.1 ± 18.6 years, p < 0.001) than GD-Aβ. Our results showed that the rate of Aβ positivity was higher in late-onset GD and that onset-age was associated with SUVR, suggesting that the later the onset of GD, the more Aβ pathology affected its onset. Copyright © 2014 John Wiley & Sons, Ltd.

  15. 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.

    2012-01-01

    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

  16. Mutation analysis of ATP13A2 in early-onset parkinsonism patients

    Institute of Scientific and Technical Information of China (English)

    Yuping Ning; Hiroyuki Tomiyama; Yuanzhe Li; Manabu Funayama; Hiroyo Yoshino; Shigeto Sato; Yoshikuni Mizuno; Nobutaka Hattori

    2008-01-01

    BACKGROUND: A recent study has found that ATP13A2 is the causative gene for PARK9-linked autosomal recessive early-onset parkinsonism, described previously in Jordanian and Chilean families (Kufor-Rakeb syndrome). OBJECTIVE: To screen eastern Asian patients with early-onset parkinsonism for mutations in ATP13A2 and to describe positron emission tomography (PET) findings of PARK9-linked parkinsonism.DESIGN, TIME AND SETTING: In total, 117 patients were selected from the Department of Neurology, Juntendo University, from February 2003 to October 2006, for this molecular genetics and case-control study.PARTICIPANTS: The patients with parkinsonism consist of two cohorts. Ninety four patients with onset age of less than 30 years were selected for the first cohort. They included 49 males and 44 females, comprising 73 Japanese, 9 Korean, 8 Taiwanese, and 4 Mainland Chinese. Eleven patients had parkinsonism complicated with dementia, 15 patients had family histories of parkinsonism (including 2 families), and 5 patients were from consanguineous parents (including one family). The second cohort of 23 patients was composed of patients with consanguineous parents (n = 15) or who had affected siblings (n = 6) or both (n = 2), but the age at onset ranged from 30 to 50 years.METHODS: In 117 patients with parkinsonism, direct sequencing of ATP13A2 exons 13, 16, and 26, in which mutations had been reported previously, were performed. Sequencing was also performed in all 29 exons, including splice sites, in 28 probands who showed homozygosity at the PARK9 locus by haplotype analysis. Mutation analysis was also performed in 150 normal people. Linkage analysis was performed on all 3 parkinsonism families using short tandem repeat markers flanking the PARK9 locus. For patients who had ATP13A2 mutation, we performed brain MRI and 18F-dopa PET scans.MAIN OUTCOME MEASURES: ATP13A2 DNA sequence, 18F-dopa PET scan and brain MRI findings.RESULTS: A novel F182L mutation in a consanguineous

  17. A neurophysiological deficit in early visual processing in schizophrenia patients with auditory hallucinations.

    Science.gov (United States)

    Kayser, Jürgen; Tenke, Craig E; Kroppmann, Christopher J; Alschuler, Daniel M; Fekri, Shiva; Gil, Roberto; Jarskog, L Fredrik; Harkavy-Friedman, Jill M; Bruder, Gerard E

    2012-09-01

    Existing 67-channel event-related potentials, obtained during recognition and working memory paradigms with words or faces, were used to examine early visual processing in schizophrenia patients prone to auditory hallucinations (AH, n = 26) or not (NH, n = 49) and healthy controls (HC, n = 46). Current source density (CSD) transforms revealed distinct, strongly left- (words) or right-lateralized (faces; N170) inferior-temporal N1 sinks (150 ms) in each group. N1 was quantified by temporal PCA of peak-adjusted CSDs. For words and faces in both paradigms, N1 was substantially reduced in AH compared with NH and HC, who did not differ from each other. The difference in N1 between AH and NH was not due to overall symptom severity or performance accuracy, with both groups showing comparable memory deficits. Our findings extend prior reports of reduced auditory N1 in AH, suggesting a broader early perceptual integration deficit that is not limited to the auditory modality.

  18. Committee Opinion Summary No. 638: First-Trimester Risk Assessment for Early-Onset Preeclampsia.

    Science.gov (United States)

    2015-09-01

    Hypertensive disorders with adverse sequelae (including preterm birth, maternal morbidity and mortality, and long-term risk of maternal cardiovascular disease) complicate 5-10% of pregnancies. Early identification of pregnant women at risk of developing early-onset preeclampsia would theoretically allow referral for more intensive surveillance or application of preventive therapies to reduce the risk of severe disease. In practice, however, the effectiveness of such triage would be hindered by the low positive predictive value for early-onset preeclampsia reported in the literature. In spite of the modest predictive value of first-trimester preeclampsia risk assessment and the lack of data demonstrating improved clinical outcomes, commercial tests are being marketed for the prediction of preeclampsia in the first trimester. Taking a detailed medical history to evaluate for risk factors is currently the best and only recommended screening approach for preeclampsia; it should remain the method of screening for preeclampsia until studies show that aspirin or other interventions reduce the incidence of preeclampsia for women at high risk based on first-trimester predictive tests.

  19. Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy.

    Directory of Open Access Journals (Sweden)

    Dandan Tan

    Full Text Available This study aimed to analyze the correlation between the phenotype and genotype of Chinese patients with early-onset lamin A (LMNA-related muscular dystrophy (MD. The clinical and myopathological data of 21 Chinese pediatric patients with early-onset LMNA-related MD were collected and analyzed. LMNA gene mutation analysis was performed by direct sequencing of genomic DNA. Sublocalization of wild-type and mutant proteins were observed by immunofluorescence using cultured fibroblasts and human embryonic kidney 293 (HEK 293 cell. Seven patients were diagnosed with Emery-Dreifuss muscular dystrophy (EDMD and 14 were diagnosed with LMNA-associated congenital muscular dystrophy (L-CMD. Four biopsy specimens from the L-CMD cases exhibited inflammatory changes. Abnormal nuclear morphology was observed with both transmission electron microscopy and lamin A/C staining. We identified 10 novel and nine known LMNA gene mutations in the 21 patients. Some mutations (c.91G>A, c.94_96delAAG, c.116A>G, c.745C>T, c.746G>A, and c.1580G>C were well correlated with EDMD or L-CMD. LMNA-related MD has a common symptom triad of muscle weakness, joint contractures, and cardiac involvement, but the severity of symptoms and disease progression differ greatly. Inflammatory change in biopsied muscle is a characteristic of early-stage L-CMD. Phenotype-genotype analysis determines that some mutations are well correlated with LMNA-related MD.

  20. The Role of Pancreatic Stone Protein in Diagnosis of Early Onset Neonatal Sepsis

    Directory of Open Access Journals (Sweden)

    Anwar A. Rass

    2016-01-01

    Full Text Available Introduction. Early diagnosis and treatment of neonatal sepsis may help decrease neonatal mortality. Aim of the Study. To evaluate the role of pancreatic stone protein as a marker for early onset neonatal sepsis. Methods. A hospital-based prospective study was conducted on 104 (52 uninfected and 52 infected neonates admitted to the Neonatal Intensive Care Unit (NICU of Zagazig University hospitals during the period from April 2014 to April 2015. All newborns were subjected to full history taking, careful neonatal assessment, blood, C-reactive protein (CRP, and serum pancreatic stone protein. Results. Serum PSP levels were significantly higher in the infected group than in the uninfected group. At a cutoff level of PSP 12.96 ng/mL, the sensitivity was 96.2%, the specificity was 88.5%, positive predictive value was 95.8%, negative predictive value was 89.3%, and area under the curve was 0.87. A significant positive correlation between CRP and PSP was found in infected group. Conclusion. The high negative predictive value of PSP (89.3% indicates that the serum PSP level is a good marker for diagnosis of early onset neonatal sepsis and can be used to limit hospital stay and antibiotic use in neonates treated for suspected sepsis.

  1. Early-Onset Scoliosis: A Review of History, Current Treatment, and Future Directions.

    Science.gov (United States)

    Yang, Scott; Andras, Lindsay M; Redding, Gregory J; Skaggs, David L

    2016-01-01

    Early-onset scoliosis (EOS) is defined as curvature of the spine in children >10° with onset before age 10 years. Young children with EOS are at risk for impaired pulmonary function because of the high risk of progressive spinal deformity and thoracic constraints during a critical time of lung development. The treatment of EOS is very challenging because the population is inhomogeneous, often medically complex, and often needs multiple surgeries. In the past, early spinal fusion was performed in children with severe progressive EOS, which corrected scoliosis but limited spine and thoracic growth and resulted in poor pulmonary outcomes. The current goal in treatment of EOS is to maximize growth of the spine and thorax by controlling the spinal deformity, with the aim of promoting normal lung development and pulmonary function. Bracing and casting may improve on the natural history of progression of spinal deformity and are often used to delay surgical intervention or in some cases obviate surgery. Recent advances in surgical implants and techniques have led to the development of growth-friendly implants, which have replaced early spine fusion as the surgical treatment of choice. Treatment with growth-friendly implants usually requires multiple surgeries and is associated with frequent complications. However, growth-friendly spine surgery has been shown to correct spinal deformity while allowing growth of the spine and subsequently lung growth.

  2. The common single-nucleotide polymorphism rs2681472 is associated with early-onset preeclampsia in Northern Han Chinese women.

    Science.gov (United States)

    Wan, Ji-Peng; Wang, Hong; Li, Chang-Zhong; Zhao, Han; You, Li; Shi, Dong-Hong; Sun, Xiu-Hua; Lv, Hong; Wang, Fei; Wen, Ze-Qing; Wang, Xie-Tong; Chen, Zi-Jiang

    2014-11-01

    Preeclampsia, characterized by hypertension and proteinuria, remains a leading cause of maternal morbidity and mortality. Recently, a genome-wide association study (GWAS) identified the single-nucleotide polymorphism, rs2681472, as a new hypertension susceptibility genetic variant. The purpose of this study was to evaluate the association between preeclampsia and rs268172 in a Northern Han Chinese population. We genotyped 1218 unrelated Northern Han Chinese women, including 515 patients with preeclampsia and 703 healthy controls. No significant differences were detected in the allele frequencies between patients and controls (P = .23). When patients were divided into early-onset and late-onset preeclampsia according to gestational age of disease onset, the allele frequencies significantly differed between controls and patients with early-onset preeclampsia (P = .02). Genotype frequencies also were significantly different between controls and patients early-onset preeclampsia when data were analyzed under additive (P = .03) and dominant (P = .009) models. We replicated this association in an independent Northern Han Chinese population and observed a significant difference in the allele frequencies between patients with early-onset preeclampsia and controls (P = .011). We report that rs2681472 is associated with early-onset preeclampsia in Northern Han Chinese women. © The Author(s) 2014.

  3. The dramatic effects of Galantamine in a patient with early-onset Alzheimer's disease.

    Science.gov (United States)

    Dev, Harveer; Agius, Mark; Zaman, Rashid

    2010-06-01

    We discuss the case of a 51 year old former mid-wife presented to the NHS Luton and Bedfordshire psychiatric services with a 2 year history of increasing forgetfulness with significant impairment to her daily function. She was diagnosed with non-familial early-onset Alzheimer's Disease (EOAD) and started on 8mg daily of the acetylcholinesterase inhibitor Galantamine. The information for this study was gathered from patient notes, consultant, collateral and personal accounts. Periodic outpatient consultations at the NHS Luton and Bedfordshire psychiatric services were used to monitor Mrs LF's global, functional and behavioral progress. These were supplemented with the mini mental state examination (MMSE) at each outpatient appointment. The graph of MMSE scores illustrates severe decline in scores, followed eventually by increase in score to sustained improvement while continuing on galantamine. Functionally, this lady has successfully negotiated a divorce, moved into her own accommodation, began travelling on holidays, including abroad, with friends, and has now embarked on a new relationship. Whilst only being a single case study, this demonstrates the significant benefits which are attainable with Galantamine in EOAD. The extent of this improvement may be a result of individual variation, or perhaps a greater efficacy for this drug in the subset of 'early-onset' AD patients, which has long been thought to share the same mechanism as traditional AD. The responsiveness to Galantamine in this patient may suggest an alternative mechanism of Early Onset Alzheimer's Disease to typical Alzheimer's Disease in the over 65's. The case raises interesting questions as to whether EOAD should be considered distinct to typical (over 65's) AD, given the greater than expected response to Galantamine.

  4. Identification of inherited genetic variations influencing prognosis in early-onset breast cancer.

    Science.gov (United States)

    Rafiq, Sajjad; Tapper, William; Collins, Andrew; Khan, Sofia; Politopoulos, Ioannis; Gerty, Sue; Blomqvist, Carl; Couch, Fergus J; Nevanlinna, Heli; Liu, Jianjun; Eccles, Diana

    2013-03-15

    Genome-Wide Association Studies (GWAS) have begun to investigate associations between inherited genetic variations and breast cancer prognosis. Here, we report our findings from a GWAS conducted in 536 patients with early-onset breast cancer aged 40 or less at diagnosis and with a mean follow-up period of 4.1 years (SD = 1.96). Patients were selected from the Prospective Study of Outcomes in Sporadic versus Hereditary breast cancer. A Bonferroni correction for multiple testing determined that a P value of 1.0 × 10(-7) was a statistically significant association signal. Following quality control, we identified 487,496 single nucleotide polymorphisms (SNP) for association tests in stage 1. In stage 2, 35 SNPs with the most significant associations were genotyped in 1,516 independent cases from the same early-onset cohort. In stage 2, 11 SNPs remained associated in the same direction (P ≤ 0.05). Fixed effects meta-analysis models identified one SNP associated at close to genome wide level of significance 556 kb upstream of the ARRDC3 locus [HR = 1.61; 95% confidence interval (CI), 1.33-1.96; P = 9.5 × 10(-7)]. Four further associations at or close to the PBX1, RORα, NTN1, and SYT6 loci also came close to genome-wide significance levels (P = 10(-6)). In the first ever GWAS for the identification of SNPs associated with prognosis in patients with early-onset breast cancer, we report a SNP upstream of the ARRDC3 locus as potentially associated with prognosis (median follow-up time for genotypes: CC = 4 years, CT = 3 years, and TT = 2.7 years; Wilcoxon rank-sum test CC vs. CT, P = 4 × 10(-4) and CT vs. TT, P = 0.76). Four further loci may also be associated with prognosis.

  5. Potential Value of Genomic Copy Number Variations in Schizophrenia

    Directory of Open Access Journals (Sweden)

    Chuanjun Zhuo

    2017-06-01

    Full Text Available Schizophrenia is a devastating neuropsychiatric disorder affecting approximately 1% of the global population, and the disease has imposed a considerable burden on families and society. Although, the exact cause of schizophrenia remains unknown, several lines of scientific evidence have revealed that genetic variants are strongly correlated with the development and early onset of the disease. In fact, the heritability among patients suffering from schizophrenia is as high as 80%. Genomic copy number variations (CNVs are one of the main forms of genomic variations, ubiquitously occurring in the human genome. An increasing number of studies have shown that CNVs account for population diversity and genetically related diseases, including schizophrenia. The last decade has witnessed rapid advances in the development of novel genomic technologies, which have led to the identification of schizophrenia-associated CNVs, insight into the roles of the affected genes in their intervals in schizophrenia, and successful manipulation of the target CNVs. In this review, we focus on the recent discoveries of important CNVs that are associated with schizophrenia and outline the potential values that the study of CNVs will bring to the areas of schizophrenia research, diagnosis, and therapy. Furthermore, with the help of the novel genetic tool known as the Clustered Regularly Interspaced Short Palindromic Repeats-associated nuclease 9 (CRISPR/Cas9 system, the pathogenic CNVs as genomic defects could be corrected. In conclusion, the recent novel findings of schizophrenia-associated CNVs offer an exciting opportunity for schizophrenia research to decipher the pathological mechanisms underlying the onset and development of schizophrenia as well as to provide potential clinical applications in genetic counseling, diagnosis, and therapy for this complex mental disease.

  6. ATP13A2 variants in early-onset Parkinson's disease patients and controls

    DEFF Research Database (Denmark)

    Djarmati, Ana; Hagenah, Johann; Reetz, Kathrin

    2009-01-01

    Four genes responsible for recessively inherited forms of Parkinson's disease (PD) have been identified, including the recently discovered ATP13A2 (PARK9) gene. Our objective was to investigate the role of this gene in a large cohort of PD patients and controls. We extensively screened all 29 exons...... of the ATP13A2 coding region in 112 patients with early-onset PD (EOPD; origin and of 55 controls. We identified four carriers (3.6%) of novel single heterozygous ATP13A2 missense changes that were absent in controls. Interestingly, the carrier of one of these variants...

  7. Functional and Radiographic Outcomes Following Growth-Sparing Management of Early-Onset Scoliosis.

    Science.gov (United States)

    Johnston, Charles E; Tran, Dong-Phuong; McClung, Anna

    2017-06-21

    In this study, we sought to evaluate radiographic, functional, and quality-of-life outcomes of patients who have completed growth-sparing management of early-onset scoliosis. This prospective study involved patients with early-onset scoliosis who underwent growth-sparing treatment and either "final" fusion or observation for ≥2 years since the last lengthening procedure. Demographics, radiographic parameters, pulmonary function test (PFT) values, and scores of patient-reported assessments (Early-Onset Scoliosis Questionnaire [EOSQ] and Scoliosis Research Society [SRS]-30) were obtained. At the most recent follow-up, patients performed 2 additional functional outcome tests: step-activity monitoring and a treadmill exercise-tolerance test. Twelve patients were evaluated as "graduates" of growth-sparing management of early-onset scoliosis (mean of 37 months since the most recent surgery). The major scoliosis curve measurement averaged 88° before treatment and 47° at the most recent follow-up. T1-S1 height increased from a mean of 22.3 cm to 34.7 cm and T1-T12 height, from 13.3 to 22.3 cm. At the most recent follow-up, the mean forced expiratory volume in 1 second (FEV1) and forced vital capacity (FVC) as a percentage of the predicted volume were 52.1% and 55.3%, respectively, and were essentially unchanged from the earliest PFT that patients could perform (FEV1 = 53.8% of predicted and FVC = 53.5% of predicted). There was no difference between graduates and controls with respect to activity time or total steps in step-activity monitoring, and in the exercise-tolerance test, graduates walked at the same speed but at a higher heart rate and at a significantly higher (p scoliosis appears to be spine elongation and maintenance of pulmonary function at a level that is no less than the percentage of normal at initial presentation. Functional testing and patient-reported outcomes at a mean of 3 years from the last surgery suggest that activity levels were generally equal

  8. Using hip measures to avoid misdiagnosing early rapid onset osteoarthritis for osteonecrosis.

    Science.gov (United States)

    Nelson, Fred R T; Bhandarkar, Varun S; Woods, Tammy A

    2014-06-01

    In the early phases, subchondral insufficiency fractures and rapidly destructive osteoarthritis of the hip are often mistaken for osteonecrosis of the hip. Three hip measures were used comparing combined subchondral insufficiency fractures and rapidly destructive 18 osteoarthritis patients to 18 osteonecrosis patients. Due to the rarity of these conditions there was no statistical power. Initial diagnoses for the osteoarthritis patients were recorded. The osteoarthritis group had significantly higher means for Tönnis angle (P osteoarthritis. Using hip measures will reduce the misdiagnosis of rapid onset osteoarthritis of the hip for osteonecrosis.

  9. 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

    2017-08-22

    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

  10. Approach to early-onset colorectal cancer:Clinicopathological,familial,molecular and immunohistochemical characteristics

    Institute of Scientific and Technical Information of China (English)

    Jose; Perea; Edurne; Alvaro; Yolanda; Rodríguez; Cristina; Gravalos; Eva; Sánchez-Tomé; Barbara; Rivera; Francisco; Colina; Pablo; Carbonell; Rogelio; González-Sarmiento; Manuel; Hidalgo; Miguel; Urioste

    2010-01-01

    AIM:To characterize clinicopathological and familial features of early-onset colorectal cancer(CRC) and compare features of tumors with and without microsatellite instability(MSI).METHODS:Forty-five patients with CRC aged 45 or younger were included in the study.Clinical information,a three-generation family history,and tumor samples were obtained.MSI status was analyzed and mismatch repair genes were examined in the MSI families.Tumors were included in a tissue microarray and an immunohistochemical study w...

  11. Early-onset type 2 diabetes in a Mexican survey. Results from the National Health and Nutrition Survey 2006

    OpenAIRE

    Aída Jiménez-Corona; Rosalba Rojas; Francisco J Gómez-Pérez; Aguilar-Salinas, Carlos A

    2010-01-01

    OBJECTIVE: To describe the characteristics of patients with type 2 diabetes diagnosed before age 40 (early-onset type 2 diabetes) identified in a nation-wide, population-based study. MATERIALS AND METHODS: The survey was done in Mexico during 2006. Medical history, anthropometric and biochemical measurements were obtained in every subject. RESULTS: Cases diagnosed before (n=181) and after age 40 (n=659) were included. Early-onset type 2 diabetes was present in 13.1% of the previously diagnose...

  12. The effect of bilateral transcranial direct current stimulation on early auditory processing in schizophrenia: a preliminary study.

    Science.gov (United States)

    Dunn, Walter; Rassovsky, Yuri; Wynn, Jonathan; Wu, Allan D; Iacoboni, Marco; Hellemann, Gerhard; Green, Michael F

    2017-07-07

    Transcranial direct current stimulation (tDCS) was applied bilaterally over the auditory cortex in 12 schizophrenia patients to modulate early auditory processing. Performance on a tone discrimination task (tone-matching task-TMT) and auditory mismatch negativity were assessed after counterbalanced anodal, cathodal, and sham tDCS. Cathodal stimulation improved TMT performance (p stimulation condition by negative symptom interaction in which greater negative symptoms were associated with a better TMT performance after anodal tDCS.

  13. Neonatal stress-induced affective changes in adolescent Wistar rats: early signs of schizophrenia-like behavior

    Directory of Open Access Journals (Sweden)

    Carlos Eduardo Neves Girardi

    2014-09-01

    Full Text Available Psychiatric disorders are multifactorial diseases with etiology that may involve genetic factors, early life environment and stressful life events. The neurodevelopmental hypothesis of schizophrenia is based on a wealth of data on increased vulnerability in individuals exposed to insults during the perinatal period. Maternal deprivation disinhibits the adrenocortical response to stress in neonatal rats and has been used as an animal model of schizophrenia. To test if long-term affective consequences of early life stress were influenced by maternal presence, we submitted 10-day old rats, either deprived (for 22 h or not from their dams, to a stress challenge (i.p. saline injection. Corticosterone plasma levels were measured 2 h after the challenge, whereas another subgroup was assessed for behavior in the open field, elevated plus maze, social investigation and the negative contrast sucrose consumption test in adolescence (postnatal day 45. Maternally deprived rats exhibited increased plasma corticosterone levels which were higher in maternally deprived and stress challenged pups. Social investigation was impaired in maternally deprived rats only, while saline injection, independently of maternal deprivation, was associated with increased anxiety-like behavior in the elevated plus maze and an impaired intake decrement in the negative sucrose contrast. In the open field, center exploration was reduced in all maternally-deprived adolescents and in control rats challenged with saline injection. The most striking finding was that exposure to a stressful stimulus per se, regardless of maternal deprivation, was linked to differential emotional consequences. We therefore propose that besides being a well-known and validated model of schizophrenia in adult rats, the maternal deprivation paradigm could be extended to model early signs of psychiatric dysfunction, and would particularly be a useful tool to detect early signs that resemble schizophrenia.

  14. Neonatal stress-induced affective changes in adolescent Wistar rats: early signs of schizophrenia-like behavior

    Science.gov (United States)

    Girardi, Carlos Eduardo Neves; Zanta, Natália Cristina; Suchecki, Deborah

    2014-01-01

    Psychiatric disorders are multifactorial diseases with etiology that may involve genetic factors, early life environment and stressful life events. The neurodevelopmental hypothesis of schizophrenia is based on a wealth of data on increased vulnerability in individuals exposed to insults during the perinatal period. Maternal deprivation (MD) disinhibits the adrenocortical response to stress in neonatal rats and has been used as an animal model of schizophrenia. To test if long-term affective consequences of early life stress were influenced by maternal presence, we submitted 10-day old rats, either deprived (for 22 h) or not from their dams, to a stress challenge (i.p. saline injection). Corticosterone plasma levels were measured 2 h after the challenge, whereas another subgroup was assessed for behavior in the open field, elevated plus maze (EPM), social investigation and the negative contrast sucrose consumption test in adolescence (postnatal day 45). Maternally deprived rats exhibited increased plasma corticosterone (CORT) levels which were higher in maternally deprived and stress challenged pups. Social investigation was impaired in maternally deprived rats only, while saline injection, independently of MD, was associated with increased anxiety-like behavior in the EPM and an impaired intake decrement in the negative sucrose contrast. In the open field, center exploration was reduced in all maternally-deprived adolescents and in control rats challenged with saline injection. The most striking finding was that exposure to a stressful stimulus per se, regardless of MD, was linked to differential emotional consequences. We therefore propose that besides being a well-known and validated model of schizophrenia in adult rats, the MD paradigm could be extended to model early signs of psychiatric dysfunction, and would particularly be a useful tool to detect early signs that resemble schizophrenia. PMID:25309370

  15. Mapping the Progression of Atrophy in Early- and Late-Onset Alzheimer's Disease.

    Science.gov (United States)

    Migliaccio, Raffaella; Agosta, Federica; Possin, Katherine L; Canu, Elisa; Filippi, Massimo; Rabinovici, Gil D; Rosen, Howard J; Miller, Bruce L; Gorno-Tempini, Maria Luisa

    2015-01-01

    The term early-onset Alzheimer's disease (EOAD) identifies patients who meet criteria for AD, but show onset of symptoms before the age of 65. We map progression of gray matter atrophy in EOAD patients compared to late-onset AD (LOAD). T1-weighted MRI scans were obtained at diagnosis and one-year follow-up from 15 EOAD, 10 LOAD, and 38 age-matched controls. Voxel-based and tensor-based morphometry were used, respectively, to assess the baseline and progression of atrophy. At baseline, EOAD patients already showed a widespread atrophy in temporal, parietal, occipital, and frontal cortices. After one year, EOAD had atrophy progression in medial temporal and medial parietal cortices. At baseline, LOAD patients showed atrophy in the medial temporal regions only, and, after one year, an extensive pattern of atrophy progression in the same neocortical cortices of EOAD. Although atrophy mainly involved different lateral neocortical or medial temporal hubs at baseline, it eventually progressed along the same brain default-network regions in both groups. The cortical region showing a significant progression in both groups was the medial precuneus/posterior cingulate.

  16. 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

    2015-11-03

    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. Published by Elsevier España, S.L.U. All rights reserved.

  17. Early Versus Late Onset of Cannabis Use: Differences in Striatal Response to Cannabis Cues

    Science.gov (United States)

    Wetherill, Reagan R.; Hager, Nathan; Jagannathan, Kanchana; Mashhoon, Yasmin; Pater, Heather; Childress, Anna Rose; Franklin, Teresa R.

    2017-01-01

    Addiction theories posit that addiction is the result of a progressive transition from voluntary to habitual, compulsive drug use—changes that have been linked, in animals, to a shift from ventral to dorsal striatal control over drug-seeking behavior. Thus, we hypothesized that early-onset (EOs) cannabis users versus late-onset (LOs) cannabis users might exhibit, respectively, greater dorsal versus ventral striatal response to drug cues. We used functional magnetic resonance imaging and an event-related blood oxygen level-dependent backward-masking task to evaluate striatal responses to backward-masked cannabis cues (vs. neutral cues) in EOs (cannabis use patterns. Direct comparisons revealed that EOs showed greater response to cannabis cues in the dorsal striatum than LOs (p 50 voxels). Within-group analyses revealed that EOs showed greater neural response to cannabis cues in the dorsal striatum, whereas LOs exhibited greater neural response to cannabis cues in the ventral striatum. Although cross-sectional, these findings are consistent with recent addiction theories suggesting a progressive shift from ventral to dorsal striatal control over drug-seeking behavior and highlight the importance of age of onset of cannabis use on the brain and cognition.

  18. Cardiovascular Disease Risk Factors After Early-Onset Preeclampsia, Late-Onset Preeclampsia, and Pregnancy-Induced Hypertension

    NARCIS (Netherlands)

    Veerbeek, Jan H. W.; Hermes, Wietske; Breimer, Anath Y.; van Rijn, Bas B.; Koenen, Steven V.; Mol, Ben W.; Franx, Arie; de Groot, Christianne J. M.; Koster, Maria P. H.; Koster, M.P.H. (Wendy)

    2015-01-01

    Observational studies have shown an increased lifetime risk of cardiovascular disease (CVD) in women who experienced a hypertensive disorder in pregnancy. This risk is related to the severity of the pregnancy-related hypertensive disease and gestational age at onset. However, it has not been investi

  19. Theory of mind in the early course of schizophrenia: stability, symptom and neurocognitive correlates, and relationship with functioning.

    Science.gov (United States)

    Ventura, J; Ered, A; Gretchen-Doorly, D; Subotnik, K L; Horan, W P; Hellemann, G S; Nuechterlein, K H

    2015-07-01

    Numerous studies have reported links between theory of mind (ToM) deficits, neurocognition and negative symptoms with functional outcome in chronic schizophrenia patients. Although the ToM deficit has been observed in first-episode patients, fewer studies have addressed ToM as a possible trait marker, neurocognitive and symptom correlations longitudinally, and associations with later functioning. Recent-onset schizophrenia patients (n = 77) were assessed at baseline after reaching medication stabilization, and again at 6 months (n = 48). Healthy controls (n = 21) were screened, and demographically comparable with the patients. ToM was assessed with a Social Animations Task (SAT), in which the participants' descriptions of scenes depicting abstract visual stimuli 'interacting' in three conditions (ToM, goal directed and random) were rated for degree of intentionality attributed to the figures and for appropriateness. Neurocognition, symptoms and role functioning were also assessed. On the SAT, patients had lower scores than controls for both intentionality (p schizophrenia patients and appears to be moderately trait-like. ToM is also moderately correlated with neurocognition, negative and positive symptoms, and role functioning. ToM appears to influence negative symptoms which in turn makes an impact on role functioning.

  20. Early alterations in hippocampal circuitry and theta rhythm generation in a mouse model of prenatal infection: implications for schizophrenia.

    Directory of Open Access Journals (Sweden)

    Guillaume Ducharme

    Full Text Available Post-mortem studies suggest that GABAergic neurotransmission is impaired in schizophrenia. However, it remains unclear if these changes occur early during development and how they impact overall network activity. To investigate this, we used a mouse model of prenatal infection with the viral mimic, polyriboinosinic-polyribocytidilic acid (poly I:C, a model based on epidemiological evidence that an immune challenge during pregnancy increases the prevalence of schizophrenia in the offspring. We found that prenatal infection reduced the density of parvalbumin- but not somatostatin-positive interneurons in the CA1 area of the hippocampus and strongly reduced the strength of inhibition early during postnatal development. Furthermore, using an intact hippocampal preparation in vitro, we found reduced theta oscillation generated in the CA1 area. Taken together, these results suggest that redistribution in excitatory and inhibitory transmission locally in the CA1 is associated with a significant alteration in network function. Furthermore, given the role of theta rhythm in memory, our results demonstrate how a risk factor for schizophrenia can affect network function early in development that could contribute to cognitive deficits observed later in the disease.

  1. Kcne2 deletion causes early-onset nonalcoholic fatty liver disease via iron deficiency anemia

    Science.gov (United States)

    Lee, Soo Min; Nguyen, Dara; Anand, Marie; Kant, Ritu; Köhncke, Clemens; Lisewski, Ulrike; Roepke, Torsten K.; Hu, Zhaoyang; Abbott, Geoffrey W.

    2016-01-01

    Nonalcoholic fatty liver disease (NAFLD) is an increasing health problem worldwide, with genetic, epigenetic, and environmental components. Here, we describe the first example of NAFLD caused by genetic disruption of a mammalian potassium channel subunit. Mice with germline deletion of the KCNE2 potassium channel β subunit exhibited NAFLD as early as postnatal day 7. Using mouse genetics, histology, liver damage assays and transcriptomics we discovered that iron deficiency arising from KCNE2-dependent achlorhydria is a major factor in early-onset NAFLD in Kcne2─/─ mice, while two other KCNE2-dependent defects did not initiate NAFLD. The findings uncover a novel genetic basis for NAFLD and an unexpected potential factor in human KCNE2-associated cardiovascular pathologies, including atherosclerosis. PMID:26984260

  2. 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.

  3. The Usefulness of Biological and Neuroimaging Markers for the Diagnosis of Early-Onset Alzheimer's Disease

    Directory of Open Access Journals (Sweden)

    Alessandro Padovani

    2011-01-01

    Full Text Available The recent proposed criteria for Alzheimer's Disease (AD have strongly claimed the usefulness of biological and neuroimaging markers for early identification AD. Cerebrospinal fluid (CSF Tau/Abeta ratio, hippocampal atrophy, posterior cingulate, and neocortical associative area hypometabolism, or amyloid burden evaluated by PiB compound, held the premises to increase diagnostic accuracy in the preclinical disease stages. Despite many efforts to identify subjects at risk of developing AD, less attention has been paid to presenile AD diagnosis. A few data are already available in early onset AD, mainly obtained in cases of monogenic disorder. In this paper, we discuss the current literature on the role of biological and neuroimaging markers in presenile AD.

  4. Schizophrenia as segmental progeria

    OpenAIRE

    Papanastasiou, Evangelos; Gaughran, Fiona; Smith, Shubulade

    2011-01-01

    Schizophrenia is associated with a variety of physical manifestations (i.e. metabolic, neurological) and despite psychotropic medication being blamed for some of these (in particular obesity and diabetes), there is evidence that schizophrenia itself confers an increased risk of physical disease and early death. The observation that schizophrenia and progeroid syndromes share common clinical features and molecular profiles gives rise to the hypothesis that schizophrenia could be conceptualized...

  5. Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.

    Science.gov (United States)

    Minassian, Natali A; Lin, Meng-Chin A; Papazian, Diane M

    2012-04-01

    Mutations in Kv3.3 cause spinocerebellar ataxia type 13 (SCA13). Depending on the causative mutation, SCA13 is either a neurodevelopmental disorder that is evident in infancy or a progressive neurodegenerative disease that emerges during adulthood. Previous studies did not clarify the relationship between these distinct clinical phenotypes and the effects of SCA13 mutations on Kv3.3 function. The F448L mutation alters channel gating and causes early-onset SCA13. R420H and R423H suppress Kv3 current amplitude by a dominant negative mechanism. However, R420H results in the adult form of the disease whereas R423H produces the early-onset, neurodevelopmental form with significant clinical overlap with F448L. Since individuals with SCA13 have one wild type and one mutant allele of the Kv3.3 gene, we analysed the properties of tetrameric channels formed by mixtures of wild type and mutant subunits. We report that one R420H subunit and at least one R423H subunit can co-assemble with the wild type protein to form active channels. The functional properties of channels containing R420H and wild type subunits strongly resemble those of wild type alone. In contrast, channels containing R423H and wild type subunits show significantly altered gating, including a hyperpolarized shift in the voltage dependence of activation, slower activation, and modestly slower deactivation. Notably, these effects resemble the modified gating seen in channels containing a mixture of F448L and wild type subunits, although the F448L subunit slows deactivation more dramatically than the R423H subunit. Our results suggest that the clinical severity of R423H reflects its dual dominant negative and dominant gain of function effects. However, as shown by R420H, reducing current amplitude without altering gating does not result in infant onset disease. Therefore, our data strongly suggest that changes in Kv3.3 gating contribute significantly to an early age of onset in SCA13.

  6. 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.

  7. Menkes disease – An important cause of early onset refractory seizures

    Directory of Open Access Journals (Sweden)

    Puneet Jain

    2014-01-01

    Full Text Available Context: Menkes disease is an X-linked multisystem disorder characterized by early onset of cerebral and cerebellar neurodegeneration, fair skin, hypopigmented sparse hair and connective tissue abnormalities. Aims: We aimed to evaluate the clinical, electrophysiological and radiological features of children with Menkes disease seen at our institute. Setting/Design: The medical records of children diagnosed with Menkes disease admitted in the pediatric neurology ward or attending the special pediatric neurology clinic at a tertiary care and a referral hospital in North India, from January 2010 to December 2012, were retrospectively reviewed. The clinical data of each case was subsequently summarized and reported. Statistical analysis used: Descriptive statistics were used. Results: During the study period, 1174 children were seen. Out of these, 6 cases were diagnosed as Menkes disease on the basis of clinical phenotype, low serum copper and ceruloplasmin and supportive neuroimaging. All the children were males and had disease onset within 3 months of age, with 4 children presenting in the neonatal period. Global developmental delay and refractory seizures were the predominant clinical symptoms. Two children had symptomatic West syndrome. Other seizure semiologies included tonic-clonic (4, myoclonic (2 and tonic seizures (1. The electroencephalographic abnormalities included hypsarrythmia (2 and multifocal epileptiform discharges (3. The salient radiological features included white matter changes, temporal lobe abnormalities, global atrophy, subdural hygromas and tortuous cerebral blood vessels. Conclusions: Menkes disease should be suspected in a case of refractory early onset seizures especially in the presence of subtle clinical clues. The neuroimaging findings may further support the diagnosis.

  8. 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.

  9. Validity of hematologic parameters in identification of early and late onset neonatal infection.

    Science.gov (United States)

    Varsha; Rusia, Usha; Sikka, Meera; Faridi, M M A; Madan, Nishi

    2003-10-01

    This study was designed to evaluate the utility of hematological parameters and C-reactive protein (CRP) to formulate a sepsis screen to detect sepsis in early and late onset infection. Hundred and fifty neonates clinically suspected of bacterial infection, based on risk factors and/or clinical features were selected for the study. Blood was collected by venipuncture at the time of admission in all neonates. A total leukocyte count (TLC), differential leukocyte count (DLC), its derivatives [Total neutrophil count (TNC or T), ratio of immature to total neutrophil count (I/T), ratio of immature to mature neutrophil count (I/M)] and CRP were obtained. TLC = 10x10(9)/L, TNC = 8x10(9)/L, I/T = 0.16, I/M = 0.25 and CRP = 0.6 mg/dl were found to be good parameters in detection of sepsis. During the first three days of life leukopenia, neutropenia, elevated I/T ratio, elevated I/M ratio and CRP were good diagnostic aids while after 3 days of life CRP was the best single test. This emphasizes use of multiple indicators for detection of sepsis. Using these parameters a sepsis screen was formulated which detected >90% of proven early and late onset sepsis suggesting that other neonates with positive sepsis screen but blood culture negativity may have been truly infected.

  10. Submersion and early-onset acute respiratory distress syndrome: a case report.

    Science.gov (United States)

    Diamond, Wayde; MacDonald, Russell D

    2011-01-01

    Drowning is a common cause of accidental death, particularly in younger people, and acute respiratory failure is common in these patients. This case report describes a healthy 18-year-old man who suffered a cardiorespiratory arrest due to submersion while swimming in a freshwater lake. First-responder cardiopulmonary resuscitation and defibrillation using an automated external defibrillator resulted in a return of spontaneous circulation. The patient was evacuated to a tertiary care center by a rotor-wing air medical crew. The crew experienced difficulties in oxygenating and ventilating the patient because of early-onset acute respiratory distress syndrome (ARDS). This case report describes the pathophysiology and prehospital management of a patient with suspected early-onset ARDS secondary to drowning. This case report is unique because it describes the oxygenation and ventilation difficulties encountered in managing this patient in the transport setting, and possible strategies to deal with these difficulties. Finally, this case report highlights the prehospital bypass decision-making process for patients requiring specialized medical care.

  11. Candidate predisposing germline copy number variants in early onset colorectal cancer patients.

    Science.gov (United States)

    Brea-Fernandez, A J; Fernandez-Rozadilla, C; Alvarez-Barona, M; Azuara, D; Ginesta, M M; Clofent, J; de Castro, L; Gonzalez, D; Andreu, M; Bessa, X; Llor, X; Xicola, R; Jover, R; Castells, A; Castellvi-Bel, S; Capella, G; Carracedo, A; Ruiz-Ponte, C

    2017-05-01

    A great proportion of the heritability of colorectal cancer (CRC) still remains unexplained, and rare variants, as well as copy number changes, have been proposed as potential candidates to explain the so-called 'missing heritability'. We aimed to identify rare high-to-moderately penetrant copy number variants (CNVs) in patients suspected of having hereditary CRC due to an early onset. We have selected for genome-wide copy number analysis, 27 MMR-proficient early onset CRC patients (1% in the in-house control CNV database (n = 629 healthy controls). Copy number assignment was checked by duplex real-time quantitative PCR or multiplex ligation probe amplification. Somatic mutation analysis in candidate genes included: loss of heterozygosity studies, point mutation screening, and methylation status of the promoter. We have identified two rare germline deletions involving the AK3 and SLIT2 genes in two patients. The search for a second somatic mutational event in the corresponding CRC tumors showed loss of heterozygosity in AK3, and promoter hypermethylation in SLIT2. Both genes have been previously related to colorectal carcinogenesis. These findings suggest that AK3 and SLIT2 may be potential candidates involved in genetic susceptibility to CRC.

  12. A Survey on Current Practice of Management of Early Onset Neonatal Sepsis.

    Science.gov (United States)

    Dey, A C; Hossain, M I; Afroze, S; Dey, S K; Mannan, M A; Shahidullah, M

    2016-04-01

    It was a survey type of cross sectional study where the participants were from different teaching/referral hospital across the country and was done to gather information regarding current practice of management of neonatal sepsis among paediatricians and neonatologists and was conducted on the spot during a national conference of Bangladesh Perinatal Society in December 2013. Specialists in neonatology, paediatrics, and some other disciplines working in different institutes across the country were requested to respond. Out of 150 physicians, 92 (61.33%) were neonatologists. Physicians suspected early onset neonatal sepsis (EONS) when there is history suggestive of prolonged rupture of membrane (74.77%), prolonged labour (9.33%), chorioamnionitis (7.33%) and maternal fever (2%). Clinical sepsis is found commonly (53.33%) which is later proved by laboratory evidences such as Hb%, TC, DC PBF (peripheral blood film), C-reactive protein, chest X-ray etc. Injection Ampicillin and Gentamycin are still the first choice of antibiotics (61.3%). Preferred route was intravenous (95.3%). Antibiotics were given for 7-10 days by most of the physicians (48.77%). However there is lack of uniformity among the participants in regard to taking decision about antibiotics, the choice of first line and the subsequent options of antibiotics. So, neonatal sepsis is the most important cause of neonatal mortality in the community. Therefore a standard protocolized approach for diagnosis and management of Early Onset Neonatal Sepsis may prove critical which is currently not in practice uniformly.

  13. [Knowledge of Andalusian pediatricians and parents about early-onset tooth decay].

    Science.gov (United States)

    González, E; Pérez-Hinojosa, S; Alarcón, J A; Peñalver, M A

    2015-01-01

    To determine the level of knowledge of pediatricians and parents from Andalucía (southern Spain) about early-onset tooth decay, and to assess if pediatricians provide information to parents about pediatric oral care and visits to the pediatric dentist. A random sample of 113 pediatricians and 112 parents with children under 3 years of age received an anonymous questionnaire comprising 14 items for pediatricians and 16 items for parents, grouped into five blocks: visits to the dentist, oral hygiene, caries, nutritional habits, and treatment of caries. The chi-squared test was used to assess differences between groups. Pediatricians showed deficiencies in their knowledge about visits to the dentist and treatment of caries, however their level of knowledge on oral hygiene, tooth decay and nutritional habits were adequate. Parents showed a low level of knowledge in all aspects of the study, mainly about the treatment of tooth decay. There were no significant differences between pediatricians and parents in the knowledge about visits to the dentist, however pediatricians had more knowledge than the parents about hygiene, tooth decay, nutritional habits and treatment (Ptooth decay, and provide more information to parents about the oral care and the possibility of visiting a pediatric dentist. Parents have a very low level of knowledge about early-onset tooth decay, and particularly about treatment. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  14. Androgen receptor CAG polymorphism and sporadic and early-onset prostate cancer among Mexican men.

    Science.gov (United States)

    Gómez, Rocío; Torres-Sánchez, Luisa; Camacho-Mejorado, Rafael; Burguete-García, Ana I; Vázquez-Salas, Ruth Argelia; Martínez-Nava, Gabriela A; Santana, Carla; Noris, Gino

    2016-09-01

    A short CAG repeat length in the gene encoding for the androgen receptor (AR) has been associated with prostate cancer (PC) risk and aggressiveness. In Latino men, information on this association is scarce. Hence, the aim of this study was to evaluate this association in Mexican males. Using fragment analysis by capillary electrophoresis, we determined the number of CAG repeats-(CAG)n-in AR gene from 158 incident PC cases and 326 age-matched healthy controls (±5 years), residing in Mexico City, Mexico. According to Gleason scale and age at diagnosis, cases were classified as high (⩾7) and low grade (CAG repeat length than controls (18.6±2.2 vs 19.5±2.5; P=0.02). Lower number of CAG repeats (CAG)⩽19 were associated with a greater risk for early-onset PC (odds ratio: 2.31; 95% confidence interval: 1.14-4.69). CAG repeat length could increase the risk for sporadic and early-onset PC. The best cutoff point for identifying at-risk subjects was (CAG)19. However, further studies are necessary to replicate our findings in subjects with a family history of PC and also to evaluate the association between CAG repeats length and disease progression.

  15. Early-onset facioscapulohumeral muscular dystrophy - significance of pelvic extensors in sagittal spinal imbalance.

    Science.gov (United States)

    Lee, Choon Sung; Kang, Suk Jung; Hwang, Chang Ju; Lee, Sung-Woo; Ahn, Young-Joon; Kim, Yung-Tae; Lee, Dong-Ho; Lee, Mi Young

    2009-11-01

    Although facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited myopathy, cases of infantile or early-childhood onset have rarely been reported. The purpose of this study was to describe a case of early-onset FSHD with lumbar hyperlordosis, which shows the significance of the dynamic component of sagittal spinal imbalance. An 11-year-old girl presented with progressive gait disturbance and lumbar hyperlordosis. The motor power of her pelvic extensor muscles was grade 3. Pelvic tilt and hip flexion were markedly increased as determined by gait analysis. The most important factor in the development of hyperlordosis is the weakness of the pelvic extensor muscles, and the results of gait analysis exquisitely explain the pathophysiology. The patient stands with her spine hyperextended to maintain upright posture by a compensatory mechanism of relatively strong back extensor muscles. Corrective surgery for lumbar hyperlordosis was not considered because it could have eliminated the compensatory lumbar hyperextension, thus making the spine of the patient stoop forward through her hip joint during walking by the weakness of her pelvic extensor muscles. This FSHD case is an impressive example of a patient showing the concept that weak pelvic extensor muscles cannot keep the spine upright and balanced.

  16. Very Early-Onset Inflammatory Manifestations of X-Linked Chronic Granulomatous Disease

    Directory of Open Access Journals (Sweden)

    Roxane Labrosse

    2017-09-01

    Full Text Available Chronic granulomatous disease (CGD is a rare primary immune deficiency caused by mutations in genes coding for components of the nicotinamide adenine dinucleotide phosphate oxidase, characterized by severe and recurrent bacterial and fungal infections, together with inflammatory complications. Dysregulation of inflammatory responses are often present in this disease and may lead to granulomatous lesions, most often affecting the gastrointestinal (GI and urinary tracts. Treatment of inflammatory complications usually includes corticosteroids, whereas antimicrobial prophylaxis is used for infection prevention. Curative treatment of both infectious susceptibility and inflammatory disease can be achieved by hematopoietic stem cell transplantation. We report herein three patients with the same mutation of the CYBB gene who presented with very early-onset and severe GI manifestations of X-linked CGD. The most severely affected patient had evidence of antenatal inflammatory involvement of the GI and urinary tracts. Extreme hyperleukocytosis with eosinophilia and high inflammatory markers were observed in all three patients. A Mycobacterium avium lung infection and an unidentified fungal lung infection occurred in two patients both during their first year of life, which is indicative of the severity of the disease. All three patients underwent bone marrow transplantation and recovered fully from their initial symptoms. To our knowledge, these are the first reports of patients with such an early-onset and severe inflammatory manifestations of CGD.

  17. Relationship between renal histology and plasma antithrombin III activity in women with early onset preeclampsia.

    Science.gov (United States)

    Weiner, C P; Bonsib, S M

    1990-04-01

    Renal biopsy was performed in 12 women with the clinical diagnosis of severe, early-onset preeclampsia at the time of cesarean delivery for the express purpose of aiding future counseling on the risk of recurrence. The mean gestation at delivery was 30 +/- 3 weeks. The mean birthweight was 1090 +/- 505 gm. Four women (33%) were multiparous. Antithrombin III activity was determined immediately prior to delivery unrelated to clinical care and as part of other protocols. The biopsy was performed without difficulty in each, although the sample was inadequate in one patient. The clinical diagnosis of preeclampsia was confirmed in nine (82%). However, three of the nine had underlying renal disease, as did the two women without histologic evidence of preeclampsia (42% of the total). Correlations between laboratory parameters with the histopathologic diagnoses were sought. Neither uric acid, creatinine, blood urea nitrogen, platelet count, or 24-hour urinary protein measurements aided the differentiation of the various subgroups. Antithrombin III activity in women with biopsy-supported preeclampsia (77% +/- 12%) was significantly lower than that in women without histologic evidence of preeclampsia (116% +/- 8%). Antithrombin III activity correctly predicted biopsy findings in at least 9 of 11 (82%). These preliminary findings confirm the high frequency of underlying disease in women with early-onset preeclampsia. Although low antithrombin III activity does not differentiate between "pure" preeclampsia and superimposed disease, a normal antithrombin III activity is reassuring and more consistent with a nonpreeclamptic renal complication than with preeclampsia.

  18. Effects of nicotine chewing gum on UPDRS score and P300 in early-onset parkinsonism.

    Science.gov (United States)

    Mitsuoka, Takako; Kaseda, Yumiko; Yamashita, Hiroshi; Kohriyama, Tatsuo; Kawakami, Hideshi; Nakamura, Shigenobu; Yamamura, Yasuhiro

    2002-03-01

    It has been reported that nicotine shows some beneficial effects on Parkinson's disease. The purpose of the present study is to assess the therapeutic effects of nicotine chewing gum in patients with early-onset parkinsonism (EOP). The subjects were 8 patients with early-onset parkinsonism (male/female = 4/4, mean age; 51.3 years). Four out of 8 patients had a history of smoking (smokers). To estimate the effects of nicotine gum, the scores on the Unified Parkinson's Disease Rating Scale (UPDRS) and auditory event-related potentials (ERPs) were studied before and after taking nicotine gum in the EOP patients. In smokers, UPDRS scores improved by more than 10% and the P300 latency of auditory ERPs was shortened by more than 30 msec. In contrast, nicotine had no remarkable effects on UPDRS scores or auditory ERPs in non-smokers. We suggest that nicotine chewing gum may be a possible choice for the treatment of patients with EOP, especially when they are smokers.

  19. Hepatocyte nuclear factor 1-alpha mutation in normal glucose-tolerant subjects and early-onset type 2 diabetic patients.

    Science.gov (United States)

    Lim, Dong Mee; Huh, Nam; Park, Keun Yong

    2008-12-01

    The prevalence of diabetes in Korea is reported to be approximately 10%, but cases of maturity-onset diabetes of the young (MODY) are rare in Korea. A diagnostic technique for autosomal dominant MODY is being actively sought. In this regard, we used a DNA chip to investigate the frequency of mutations of the MODY3 gene (hepatocyte nuclear factor-1alpha) in Korean patients with early-onset type 2 diabetes. The genomic DNA of 30 normal individuals [age, 24.9+/-8.6 years] and 25 patients with early-onset type 2 diabetes (age, 27+/-5.9 years) was extracted, and the MODY3 gene was amplified. The amplified DNA was hybridized onto a MODY3 chip, which has oligonucleotides of 15-25 bases, representing wild-type and mutant MODY3 sequences in both forward and reverse orientations, immobilized on its surface. Among the normal subjects, there was no mutation of MODY3. Among those with early-onset type 2 diabetes, there was one case of MODY3 mutation. Our results indicate that MODY3 mutations are not rare in Korean early-onset type 2 diabetes patients in Korea and suggest that MODY3 mutations in patients with early-onset type 2 diabetes need to be further evaluated.

  20. Source retrieval is not properly differentiated from object retrieval in early schizophrenia: an fMRI study using virtual reality.

    Science.gov (United States)

    Hawco, Colin; Buchy, Lisa; Bodnar, Michael; Izadi, Sarah; Dell'Elce, Jennifer; Messina, Katrina; Joober, Ridha; Malla, Ashok; Lepage, Martin

    2015-01-01

    Source memory, the ability to identify the context in which a memory occurred, is impaired in schizophrenia and has been related to clinical symptoms such as hallucinations. The neurobiological underpinnings of this deficit are not well understood. Twenty-five patients with recent onset schizophrenia (within the first 4.5 years of treatment) and twenty-four healthy controls completed a source memory task. Participants navigated through a 3D virtual city, and had 20 encounters of an object with a person at a place. Functional magnetic resonance imaging was performed during a subsequent forced-choice recognition test. Two objects were presented and participants were asked to either identify which object was seen (new vs. old object recognition), or identify which of the two old objects was associated with either the person or the place being presented (source memory recognition). Source memory was examined by contrasting person or place with object. Both patients and controls demonstrated significant neural activity to source memory relative to object memory, though activity in controls was much more widespread. Group differences were observed in several regions, including the medial parietal and cingulate cortex, lateral frontal lobes and right superior temporal gyrus. Patients with schizophrenia did not differentiate between source and object memory in these regions. Positive correlations with hallucination proneness were observed in the left frontal and right middle temporal cortices and cerebellum. Patients with schizophrenia have a deficit in the neural circuits which facilitate source memory, which may underlie both the deficits in this domain and be related to auditory hallucinations.