WorldWideScience

Sample records for downs syndrome

  1. Down Syndrome

    Science.gov (United States)

    ... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

  2. Down Syndrome = Sindrome de Down.

    Science.gov (United States)

    Pueschel, S. M.; Glasgow, R. E.

    Presented both in English and Spanish, the brochure is primarily concerned with biological and developmental characteristics of the person with Down's syndrome. An emphasis is on the valuable humanizing influence these individuals have on society. Brief sections in the document discuss the delayed developmental aspects of Down's syndrome; the…

  3. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

  4. Facts about Down Syndrome

    Science.gov (United States)

    ... monitor children with Down syndrome for these conditions. Treatments Down syndrome is a lifelong condition. Services early in life ... of these services focus on helping children with Down syndrome develop to their ... therapy, and they are typically offered through early intervention ...

  5. Down Syndrome (For Kids)

    Science.gov (United States)

    ... Changed What's Life Like for Kids With Down Syndrome? Print en español El síndrome de Down You have probably seen people who have Down syndrome. They have certain physical features, such as a ...

  6. Stigma in Iranian Down Syndrome

    Directory of Open Access Journals (Sweden)

    Sahel Hemmati

    2010-04-01

    Full Text Available Objectives: Stigma is a negative value. Many behaviors are to ward Stigmatized people. Down syndrome is one of conditions with Stigma. The aim of this study is to determine the sources of labeling in iranian Down syndrome. Methods: The View of 105 Down syndrome families concerning stigma were conducted. All of Down syndrome was under 50 years. Results: A fair proportion of Down syndrome families perceived that stigma had a negative effect from social. Causes of stigma are different. Stigma due social interaction, Media and health professionals are significant than others. Discussion: The diagnostic label of Down syndrome may render the person and his family vulnerable to stigmatization. The most causes of stigma were determined therefore, in the destigmatization programs, they must be attended. Stigma must be detected, too.

  7. Endocrine manifestations of Down syndrome.

    Science.gov (United States)

    Whooten, Rachel; Schmitt, Jessica; Schwartz, Alison

    2018-02-01

    To summarize the recent developments in endocrine disorders associated with Down syndrome. Current research regarding bone health and Down syndrome continues to show an increased prevalence of low bone mass and highlights the importance of considering short stature when interpreting dual energy x-ray absorptiometry. The underlying cause of low bone density is an area of active research and will shape treatment and preventive measures. Risk of thyroid disease is present throughout the life course in individuals with Down syndrome. New approaches and understanding of the pathophysiology and management of subclinical hypothyroidism continue to be explored. Individuals with Down syndrome are also at risk for other autoimmune conditions, with recent research revealing the role of the increased expression of the Autoimmune Regulatory gene on 21st chromosome. Lastly, Down-syndrome-specific growth charts were recently published and provide a better assessment of growth. Recent research confirms and expands on the previously known endocrinopathies in Down syndrome and provides more insight into potential underlying mechanisms.

  8. Caries in Portuguese children with Down syndrome

    Directory of Open Access Journals (Sweden)

    Cristina Maria Areias

    2011-01-01

    Full Text Available OBJECTIVES: Oral health in Down syndrome children has some peculiar aspects that must be considered in the follow-up of these patients. This study focuses on characterizing the environmental and host factors associated with dental caries in Portuguese children with and without Down syndrome. METHODS: A sibling-matched, population-based, cross-sectional survey was performed. RESULTS: Down syndrome children presented a significantly greater percentage of children without caries, 78% vs. 58% of non-Down syndrome siblings. This difference in the DMFT index (number of decayed, missing and filled teeth essentially reflects data obtained from treated teeth, for which 91% of children with Down syndrome had never had a tooth treated vs. 67% of siblings. This result was statistically significant, whereas results for decayed and lost teeth did not differ between Down syndrome children and their unaffected siblings. Additionally, in Down syndrome children, a delayed eruption of the second molar occurs. Down syndrome children and their siblings have similar oral hygiene habits, but a higher percentage of Down syndrome children visit a dentist before the age of three years, in comparison to their siblings. Bruxism was also more common in Down syndrome children compared to their siblings. CONCLUSIONS: Our results show that Portuguese children with Down syndrome have lower caries rates than children without Down syndrome. This reduced prevalence may be associated with the parents' greater concern about oral health care in Down syndrome children, resulting in their taking them sooner to visit a dentist, as well as to a higher bruxism prevalence and delayed tooth eruption.

  9. Caries in Portuguese children with Down syndrome.

    Science.gov (United States)

    Areias, Cristina Maria; Sampaio-Maia, Benedita; Guimaraes, Hercilia; Melo, Paulo; Andrade, David

    2011-01-01

    Oral health in Down syndrome children has some peculiar aspects that must be considered in the follow-up of these patients. This study focuses on characterizing the environmental and host factors associated with dental caries in Portuguese children with and without Down syndrome. A sibling-matched, population-based, cross-sectional survey was performed. Down syndrome children presented a significantly greater percentage of children without caries, 78% vs. 58% of non-Down syndrome siblings. This difference in the DMFT index (number of decayed, missing and filled teeth) essentially reflects data obtained from treated teeth, for which 91% of children with Down syndrome had never had a tooth treated vs. 67% of siblings. This result was statistically significant, whereas results for decayed and lost teeth did not differ between Down syndrome children and their unaffected siblings. Additionally, in Down syndrome children, a delayed eruption of the second molar occurs. Down syndrome children and their siblings have similar oral hygiene habits, but a higher percentage of Down syndrome children visit a dentist before the age of three years, in comparison to their siblings. Bruxism was also more common in Down syndrome children compared to their siblings. Our results show that Portuguese children with Down syndrome have lower caries rates than children without Down syndrome. This reduced prevalence may be associated with the parents' greater concern about oral health care in Down syndrome children, resulting in their taking them sooner to visit a dentist, as well as to a higher bruxism prevalence and delayed tooth eruption.

  10. Down syndrome: a cardiovascular perspective

    NARCIS (Netherlands)

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skilful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart

  11. Down Syndrome: A Cardiovascular Perspective

    Science.gov (United States)

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and…

  12. Bacterial tracheitis in Down's syndrome.

    OpenAIRE

    Cant, A J; Gibson, P J; West, R J

    1987-01-01

    Four children with Down's syndrome and bacterial tracheitis are described. In three the infection was due to Haemophilus influenza. In patients with Down's syndrome presenting with stridor tracheitis should be considered and appropriate treatment started.

  13. Genetic epidemiology of Down syndrome in Iran

    OpenAIRE

    Manoochehr Shariati

    2005-01-01

    Down syndrome is the most common autosomal abnormality and occurs in approximately 1 per 700 live births. Down syndrome accounts for about one third of all moderate and sever mental handicaps in school-aged children. To reveal genetic epidemiology of Down syndrome, 545 karyotypes of referred cases to the author were evaluated. The frequencies of three cytogenetic variants of Down syndrome were trisomy 21 (77.5%), mosaicism (18%) and chromosomal translocation (4.5%). Male to female ratio was 1...

  14. Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome

    OpenAIRE

    Hill, Elizabeth A.

    2016-01-01

    Key points Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors. The prevalence of OSAHS in adults with Down syndrome is estimated at 35?42%. This is up to ten-times higher than in the general adult population. Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surve...

  15. Roentgenologic abnormalities in Down's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Higuchi, Takehiko; Russell, W J; Komatsuda, Michio; Neriishi, Shotaro

    1968-07-25

    Roentgenograms of 28 patients with Down's syndrome were reviewed with emphasis on all previously reported abnormalities and any possible additional ones. Most of the abnormalities occurred with the same frequency as previously reported, but some less frequently reported findings were also seen. One abnormal vertebral measurement found in this series may be an additional stigma of Down's syndrome. All of the 27 cases studied cytogenetically had chromosomal abnormalities consistent with this disease. This study emphasizes the need for roentgenologic norms for the Japanese, and the desirability of combining chromosome studies with roentgenological abnormalities and clinical observations in diagnosing Down's syndrome. 19 references, 2 figures, 5 tables.

  16. Congenital Leukemia in Down's syndrome

    International Nuclear Information System (INIS)

    Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.

    2006-01-01

    Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

  17. Macular structural characteristics in children with Down syndrome.

    Science.gov (United States)

    O'Brien, Scott; Wang, Jingyun; Smith, Heather A; Donaldson, Dana L; Haider, Kathryn M; Roberts, Gavin J; Sprunger, Derek T; Neely, Daniel E; Plager, David A

    2015-12-01

    This prospective study aimed to investigate macular structural characteristics in children with Down syndrome compared to those in healthy children. Two groups of children (aged 6-16 years) were enrolled: children with Down syndrome (Down syndrome group, N = 17) and age-matched healthy children who were full-term at birth (control group, N = 18). Eligible patients had visual acuity of 20/100 or better and gestational age at birth of ≥ 36 weeks. Fourier domain optical coherence tomography was used for imaging of the macular retinal structure, and retinal volume scans centered on the macula were obtained. Central subfield thickness (CST) and the thickness of the inner and outer retinal layer regions were analyzed using the instrument's segmentation software. The analysis of data is provided for the right eye only, since there was no significant difference between right and left eyes for either the Down syndrome or control groups. Children in the Down syndrome group generally had identifiable retinal structure. The CST for the full retina and inner and outer retinal layers were all significantly greater in the Down syndrome group than the control group (independent t test, all p syndrome had macular thickness outside the normal range. Visual acuity in the Down syndrome group was not directly correlated with increased CST (t = 1.288, r = 0.326, p = 0.202). On average, CST in the Down syndrome group was greater than that in the control group, suggesting abnormal macular development in children with Down syndrome.

  18. Maternal irradiation and Down Syndrome

    International Nuclear Information System (INIS)

    Gibson, D.L.; Uh, S.H.; Miller, J.R.

    1978-04-01

    The role of preconception irradiation in the etiology of Down Syndrome was examined using the techniques of record linkage. Although 909 cases of Down Syndrome, born in B.C. between 1952-70, were ascertained through a system of linked vital and health registrations, interest was restricted to the 348 case/control pairs born in the greater Vancouver area. The maternal identifying information routinely recorded on birth and ill-health registrations was used to link 155 Down Syndrome mothers and 116 control mothers to patient files at the Vancouver General Hospital. Only 28 of the case and 25 of the control mothers were subjected to diagnostic irradiation at the Vancouver Ganeral Hospital. The difference was not significant at the 5% level

  19. Bone health in Down syndrome.

    Science.gov (United States)

    García-Hoyos, Marta; Riancho, José Antonio; Valero, Carmen

    2017-07-21

    Patients with Down syndrome have a number of risk factors that theoretically could predispose them to osteoporosis, such as early aging, development disorders, reduced physical activity, limited sun exposure, frequent comorbidities and use of drug therapies which could affect bone metabolism. In addition, the bone mass of these people may be affected by their anthropometric and body composition peculiarities. In general terms, studies in adults with Down syndrome reported that these people have lower areal bone mineral density (g/cm 2 ) than the general population. However, most of them have not taken the smaller bone size of people with Down syndrome into account. In fact, when body mineral density is adjusted by bone size and we obtain volumetric body mineral density (g/cm 3 ), the difference between both populations disappears. On the other hand, although people with Down syndrome have risk factor of hypovitaminosis D, the results of studies regarding 25(OH)D in this population are not clear. Likewise, the studies about biochemical bone markers or the prevalence of fractures are not conclusive. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  20. Mastoid abnormalities in Down syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Glass, R.B.J.; Yousefzadeh, D.K.; Roizen, N.J.

    1989-06-01

    Hearing loss and otitis media are commonly associated with Down syndrome. Hypoplasia of the mastoids is seen in many affected children and sclerosis of mastoid bones is not uncommon in Down syndrome. Awareness and early recognition of mastoid abnormality may lead to appropriate and timely therapy, thereby preserving the child's hearing or compensating for hearing loss; factors which are important for learning and maximum development.

  1. Mastoid abnormalities in Down syndrome

    International Nuclear Information System (INIS)

    Glass, R.B.J.; Yousefzadeh, D.K.; Roizen, N.J.

    1989-01-01

    Hearing loss and otitis media are commonly associated with Down syndrome. Hypoplasia of the mastoids is seen in many affected children and sclerosis of mastoid bones is not uncommon in Down syndrome. Awareness and early recognition of mastoid abnormality may lead to appropriate and timely therapy, thereby preserving the child's hearing or compensating for hearing loss; factors which are important for learning and maximum development. (orig.)

  2. Pericentrin expression in Down's syndrome.

    Science.gov (United States)

    Salemi, Michele; Barone, Concetta; Romano, Carmelo; Salluzzo, Roberto; Caraci, Filippo; Cantarella, Rita Anna; Salluzzo, Maria Grazia; Drago, Filippo; Romano, Corrado; Bosco, Paolo

    2013-11-01

    Down's syndrome (DS) is the most frequent genetic cause of intellectual disability and is a chromosomal abnormality of chromosome 21 trisomy. The pericentrin gene (PCNT) has sequenced in 21q22.3 inside of the minimal critical region for Down's syndrome. Alterations of PCNT gene are associated with dwarfism, cardiomyopathy and other pathologies. In this study, we have evaluated the possible differential expression of PCNT mRNA, by qRT-PCR, in peripheral blood leukocytes of DS subjects compared with the normal population. In the present case-control study, PCNT gene expression was increased by 72.72% in 16 out 22 DS samples compared with normal subjects. Our data suggest that changes in the expression levels of PCNT in DS subjects may be involved into the molecular mechanism of Down's syndrome.

  3. Binaural masking release in children with Down syndrome.

    Science.gov (United States)

    Porter, Heather L; Grantham, D Wesley; Ashmead, Daniel H; Tharpe, Anne Marie

    2014-01-01

    Binaural hearing results in a number of listening advantages relative to monaural hearing, including enhanced hearing sensitivity and better speech understanding in adverse listening conditions. These advantages are facilitated in part by the ability to detect and use interaural cues within the central auditory system. Binaural hearing for children with Down syndrome could be impacted by multiple factors including, structural anomalies within the peripheral and central auditory system, alterations in synaptic communication, and chronic otitis media with effusion. However, binaural hearing capabilities have not been investigated in these children. This study tested the hypothesis that children with Down syndrome experience less binaural benefit than typically developing peers. Participants included children with Down syndrome aged 6 to 16 years (n = 11), typically developing children aged 3 to 12 years (n = 46), adults with Down syndrome (n = 3), and adults with no known neurological delays (n = 6). Inclusionary criteria included normal to near-normal hearing sensitivity. Two tasks were used to assess binaural ability. Masking level difference (MLD) was calculated by comparing threshold for a 500-Hz pure-tone signal in 300-Hz wide Gaussian noise for N0S0 and N0Sπ signal configurations. Binaural intelligibility level difference was calculated using simulated free-field conditions. Speech recognition threshold was measured for closed-set spondees presented from 0-degree azimuth in speech-shaped noise presented from 0-, 45- and 90-degree azimuth, respectively. The developmental ability of children with Down syndrome was estimated and information regarding history of otitis media was obtained for all child participants via parent survey. Individuals with Down syndrome had higher masked thresholds for pure-tone and speech stimuli than typically developing individuals. Children with Down syndrome had significantly smaller MLDs than typically developing children. Adults

  4. Neurofibromatosis, Down's syndrome, and acquired abnormalities

    Directory of Open Access Journals (Sweden)

    Syed Yousuf Ali

    2016-01-01

    Full Text Available We report a patient with Down's syndrome and neurofibromatosis who presented with a keloid, sebaceous cyst and acanthosis nigricans, along with dental and ophthalmological defects. The coexistence of neurofibromatosis type 1 and Down's syndrome which are two unrelated genetic conditions is itself a rarity.

  5. Caries in Portuguese children with Down syndrome

    OpenAIRE

    Areias, Cristina Maria; Sampaio-Maia, Benedita; Guimaraes, Hercilia; Melo, Paulo; Andrade, David

    2011-01-01

    OBJECTIVES: Oral health in Down syndrome children has some peculiar aspects that must be considered in the follow-up of these patients. This study focuses on characterizing the environmental and host factors associated with dental caries in Portuguese children with and without Down syndrome. METHODS: A sibling-matched, population-based, cross-sectional survey was performed. RESULTS: Down syndrome children presented a significantly greater percentage of children without caries, 78% vs. 58% of ...

  6. Dancing with Down Syndrome: A Phenomenological Case Study

    Science.gov (United States)

    Reinders, Nicole; Bryden, Pamela J.; Fletcher, Paula C.

    2015-01-01

    "Dance for individuals with Down syndrome has many benefits; however, there is little research on this topic." Down syndrome is the most common "genetic condition," resulting in psychological, physical, and social impairments. There is research to suggest that dance may be a beneficial activity for people with Down syndrome;…

  7. Association of Down's syndrome and testicular cancer.

    Science.gov (United States)

    Dieckmann, K P; Rübe, C; Henke, R P

    1997-05-01

    We present additional clinical evidence for the suspected association of Down's syndrome and testicular germ cell tumors. Four cases of Down's syndrome and testicular cancer are reported. The literature was reviewed for previous cases and analysis regarding common features. The 4 patients were 29 to 35 years old and had clinical stage I seminoma of the testis. Two patients received prophylactic abdominal radiotherapy, 1 is being followed and 1 received adjuvant carboplatin treatment. There was no relapse at followup of 1 to 8 years. One patient also had contralateral cryptorchidism. A total of 16 cases with the association of Down's syndrome and testicular germ cell cancer was documented previously. Evidence for the suspected association of Down's syndrome and testicular cancer is now accumulating. Etiologically it is suspected that, along with genetically determined malformations in many other organs in trisomy 21, the gonads also undergo maldevelopment, thus creating the conditions for step 1 of germ cell tumor oncogenesis in utero. Physicians caring for patients with Down's syndrome should be aware of the possible association with testicular neoplasms.

  8. Pre-Menstrual Syndrome in Women with Down Syndrome

    Science.gov (United States)

    Mason, Linda; Cunningham, Cliff

    2009-01-01

    Background: Prevalence of pre-menstrual syndrome (PMS) may be higher in women with Down syndrome due to syndrome specific characteristics in biochemistry, psychopathology and lifestyle. Recognition of PMS may be difficult for women with intellectual disabilities and their carers. Method: A daily diary, used to diagnose PMS with typical women, was…

  9. Call for change in prenatal counseling for Down syndrome.

    Science.gov (United States)

    McCabe, Linda L; McCabe, Edward R B

    2012-03-01

    The American Journal of Medical Genetics Part A is to be congratulated for taking a leadership role by publishing a number of papers challenging the status quo of prenatal counseling for Down syndrome and of care for children and adults with Down syndrome. Parents want to know about the future abilities and potential of their fetus with Down syndrome, not simply negative medical information that may be outdated. Those providing counseling and those providing medical care could benefit from contact with individuals with Down syndrome outside the medical context. It is imperative that each person with Down syndrome be viewed as a unique individual with particular talents. Medical care providers should work with parents to help the child or adult with Down syndrome reach his/her goals. Copyright © 2012 Wiley Periodicals, Inc.

  10. Memory and Neuropsychology in Down Syndrome

    Science.gov (United States)

    Jarrold, Christopher; Nadel, Lynn; Vicari, Stefano

    2009-01-01

    This paper outlines the strengths and weaknesses in both short-term and long-term memory in Down syndrome, and the implications of these patterns for both other aspects of cognitive development and underlying neural pathology. There is clear evidence that Down syndrome is associated with particularly poor verbal short-term memory performance, and…

  11. Incontinence in persons with Down Syndrome.

    Science.gov (United States)

    Niemczyk, Justine; von Gontard, Alexander; Equit, Monika; Medoff, David; Wagner, Catharina; Curfs, Leopold

    2017-08-01

    To assess the rates of incontinence and associated psychological problems in children, adolescents and adults with Down Syndrome, a genetic syndrome caused by partial or complete triplication (trisomy) of chromosome 21 and characterized by typical facial features, a physical growth delay and mild or moderate intellectual disability. Three hundred and seventeen persons with Down Syndrome (4-51 years) were recruited through a German parent support group (59.6% male, mean age 19.2 years). The Parental Questionnaire: Enuresis/Urinary Incontinence, the Incontinence Questionnaire-Pediatric Lower Urinary Tract Symptoms, as well as the Developmental Behavior Checklist (DBC) for parents or for adults were filled out by parents or care-givers. 17.2% of the sample had nocturnal enuresis, 15.9% had daytime urinary incontinence, and 14.2% had fecal incontinence. Incontinence was present in 64.0% of young children (4-12 years), 10.3% of teens (13-17 years), 12.8% of young adults (18-30 years) and in 22.4% of older adults (>30 years). 13.6% of children and 8.4% of adults had a DBC score in the clinical range. 19.5% of children and 27.8% of adults with incontinence had behavioral problems. There was a significant association between nocturnal enuresis, daytime urinary incontinence and clinical DBC scores in adults. Incontinence in Down Syndrome is mainly present in young children and increases in older adults. Behavioral comorbidity is associated with incontinence only in adults with Down Syndrome. Screening and treatment of incontinence in individuals with Down Syndrome is recommended. © 2016 Wiley Periodicals, Inc.

  12. Risikovurdering for Downs syndrom i Danmark--sekundaerpublikation

    DEFF Research Database (Denmark)

    Ekelund, Charlotte Kvist; Andersen, Hans Jakob; Christensen, Jeanette

    2010-01-01

    In 2004 The Danish National Board of Health introduced a new guideline regarding prenatal screening. All pregnant women are now offered a Down's syndrome risk assessment. The new guideline has had an impact on the number of invasive early prenatal procedures. The number of procedures fell by 50......% from 2000 to 2006. 90% of the foetuses with Down's syndrome are detected prenatally. Denmark is one of the first countries in the world in which risk assessment for Down's syndrome has been successfully implemented at a national level....

  13. What Are Common Symptoms of Down Syndrome?

    Science.gov (United States)

    ... Research Information Find a Study Resources and Publications Pelvic Floor Disorders Condition Information NICHD Research Information Find a ... for children with Down syndrome: A randomized trial. Physical Therapy , 91, 1463–1477. CDC. (2012). World Down syndrome ...

  14. Down Syndrome and Alzheimer's Disease

    Science.gov (United States)

    ... A A A Share Plus on Google Plus Alzheimer's & Dementia alz.org | IHaveAlz Overview What Is Dementia ... chapter Join our online community Down Syndrome and Alzheimer's Disease As they age, those affected by Down ...

  15. Down syndrome and ionizing radiation.

    Science.gov (United States)

    Verger, P

    1997-12-01

    This review examines the epidemiologic and experimental studies into the possible role ionizing radiation might play in Down Syndrome (trisomy 21). It is prompted by a report of a temporal cluster of cases of this chromosomal disorder observed in West Berlin exactly 9 mo after the radioactive cloud from Chernobyl passed. In approximately 90% of cases, Down Syndrome is due to the nondisjunction of chromosome 21, most often in the oocyte, which may be exposed to ionizing radiation during two separate periods: before the completion of the first meiosis or around the time of ovulation. Most epidemiologic studies into trisomies and exposure to ionizing radiation examine only the first period; the Chernobyl cluster is related to the second. Analysis of these epidemiologic results indicates that the possibility that ionizing radiation might be a risk factor in Down Syndrome cannot be excluded. The experimental results, although sometimes contradictory, demonstrate that irradiation may induce nondisjunction in oogenesis and spermatogenesis; they cannot, however, be easily extrapolated to humans. The weaknesses of epidemiologic studies into the risk factors for Down Syndrome at birth (especially the failure to take into account the trisomy cases leading to spontaneous abortion) are discussed. We envisage the utility and feasibility of new studies, in particular among women exposed to prolonged or repeated artificially-produced ionizing radiation.

  16. [Behaviour problems of children with Down syndrome in preschool-age - Results from the Heidelberg Down syndrome study].

    Science.gov (United States)

    Sarimski, Klaus

    2018-05-01

    We report on the frequency and the correlations of behaviour problems among children with Down syndrome in preschool-age. As part of a longitudinal study 48 mothers of children with Down syndrome completed the German version of the “Strengths and Difficulties Questionnaire” (SDQ-D) and the Parenting Stress Inventory (PSI). The mothers were asked to fill out the questionnaires when the children had a mean age of five years. The results were compared to norms from children with typical development. Thirty per cent of the children with Down syndrome were rated as abnormal. Specifically, mean scores indicating problems with children of the same age and hyperactivity were elevated. A regression analysis predicting the total problem score of the SDQ-D revealed maternal educational level, optimistic attitude, and subjective parental stress at the age of one year and the degree of behavioural abnormalities at the age of three years as significant influential factors. Early intervention for Down syndrome children should include supporting parenting competence and coping skills in order to prevent behaviour problems.

  17. Ophthalmic Disorders in Adults with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Sharon J. Krinsky-McHale

    2012-01-01

    Full Text Available A myriad of ophthalmic disorders is associated with the phenotype of Down syndrome including strabismus, cataracts, and refractive errors potentially resulting in significant visual impairment. Ophthalmic sequelae have been extensively studied in children and adolescents with Down syndrome but less often in older adults. In-depth review of medical records of older adults with Down syndrome indicated that ophthalmic disorders were common. Cataracts were the most frequent ophthalmic disorder reported, followed by refractive errors, strabismus, and presbyopia. Severity of intellectual disability was unrelated to the presence of ophthalmic disorders. Also, ophthalmic disorders were associated with lower vision-dependent functional and cognitive abilities, although not to the extent that was expected. The high prevalence of ophthalmic disorders highlights the need for periodic evaluations and individualized treatment plans for adults with Down syndrome, in general, but especially when concerns are identified.

  18. Breastfeeding children with Down syndrome

    OpenAIRE

    Može, Barbara

    2013-01-01

    Even if nutrition is a common need of all children, there are some specifics related to this area for children with Down syndrome. Breastfeeding is an ideal natural way of feeding the baby, and it fulfills all of the baby’s requirements needed for growth and development (Vistoropski, 2013). It includes several advantages, both for the baby and for the mother (Skale, 2010). Children with Down syndrome are born with many health specialties, which can present a barrier to breastfeeding. Nonet...

  19. Major congenital anomalies in babies born with Down syndrome

    DEFF Research Database (Denmark)

    Morris, Joan K; Garne, Ester; Wellesley, Diana

    2014-01-01

    Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed...... to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down...... syndrome registered in 28 European population-based congenital anomaly registries covering seven million births during 2000-2010. Overall, 43.6% (95% CI: 42.4-44.7%) of births with Down syndrome had a cardiac anomaly and 15.0% (14.2-15.8%) had a non-cardiac anomaly. Female babies with Down syndrome were...

  20. Divorce in families of children with Down Syndrome or Rett Syndrome.

    Science.gov (United States)

    Lederman, Vivian Renne Gerber; Alves, Bianca dos Santos; Negrão, Juliana; Maria, Juliana Negrão; Schwartzman, José Salomão; D'Antino, Maria Eloisa Famá; Brunoni, Decio

    2015-05-01

    This study evaluates the impact in the stability and management of the marriage of parents of a child with Down or Rett Syndrome. Morbidity of the syndromes and the marital status of the couples before and after the birth of the affected children were considered variables. The divorce rate in families with Down syndrome was 10%, similar to the Brazilian rate population. In Rett Syndrome, the divorce rate was significantly higher, 23.5%. The higher morbidity of Rett Syndrome, and the moment of diagnosis could be relevant factors for the increased divorce rate related to this syndrome.

  1. Down syndrome: coercion and eugenics.

    Science.gov (United States)

    McCabe, Linda L; McCabe, Edward R B

    2011-08-01

    Experts agree that coercion by insurance companies or governmental authorities to limit reproductive choice constitutes a eugenic practice. We discuss discrimination against families of children with Down syndrome who chose not to have prenatal testing or chose to continue a pregnancy after a prenatal diagnosis. We argue that this discrimination represents economic and social coercion to limit reproductive choice, and we present examples of governmental rhetoric and policies condoning eugenics and commercial policies meeting criteria established by experts for eugenics. Our purpose is to sensitize the clinical genetics community to these issues as we attempt to provide the most neutral nondirective prenatal genetic counseling we can, and as we provide postnatal care and counseling to children with Down syndrome and their families. We are concerned that if eugenic policies and practices targeting individuals with Down syndrome and their families are tolerated by clinical geneticists and the broader citizenry, then we increase the probability of eugenics directed toward other individuals and communities.

  2. Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia.

    Science.gov (United States)

    Kurosawa, Kenji; Enomoto, Keisuke; Tominaga, Makiko; Furuya, Noritaka; Sameshima, Kiyoko; Iai, Mizue; Take, Hiroshi; Shinkai, Masato; Ishikawa, Hiroshi; Yamanaka, Michiko; Matsui, Kiyoshi; Masuno, Mitsuo

    2012-06-01

    Down syndrome is an autosomal chromosome disorder, characterized by intellectual disability and muscle hypotonia. Muscle hypotonia is observed from neonates to adulthood in Down syndrome patients, but muscle hypertonicity is extremely unusual in this syndrome. During a study period of nine years, we found three patients with severe spastic quadriplegia among 20 cases with Down syndrome and congenital duodenal stenosis/atresia (3/20). However, we could find no patient with spastic quadriplegia among 644 cases with Down syndrome without congenital duodenal stenosis/atresia during the same period (0/644, P quadriplegia among 17 patients with congenital duodenal stenosis/atresia without Down syndrome admitted during the same period to use as a control group (0/17, P quadriplegia in patients with Down syndrome. Long-term survival is improving, and the large majority of people with Down syndrome are expected to live well into adult life. Management and further study for the various problems, representing a low prevalence but serious and specific to patients with Down syndrome, are required to improve their quality of life. © 2012 The Authors. Congenital Anomalies © 2012 Japanese Teratology Society.

  3. Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

    Science.gov (United States)

    Choi, Intae

    2017-01-01

    The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea's metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

  4. Prenatal treatment of Down syndrome: a reality?

    Science.gov (United States)

    Guedj, Fayçal; Bianchi, Diana W; Delabar, Jean-Maurice

    2014-04-01

    Down syndrome affects more than 5 million people globally. During the last 10 years, there has been a dramatic increase in the research efforts focused on therapeutic interventions to improve learning and memory in Down syndrome. This review summarizes the different functional abnormalities targeted by researchers in mouse models of Down syndrome. Three main strategies have been used: neural stem cell implantation; environmental enrichment and physical exercise; and pharmacotherapy. Pharmacological targets include the choline pathway, GABA and NMDA receptors, DYRK1A protein, oxidative stress and pathways involved in development and neurogenesis. Many strategies have improved learning and memory as well as electrophysiological and molecular alterations in affected animals. To date, eight molecules have been tested in human adult clinical trials. No studies have yet been performed on infants. However, compelling studies reveal that permanent brain alterations originate during fetal life in Down syndrome. Early prenatal diagnosis offers a 28 weeks window to positively impact brain development and improve postnatal cognitive outcome in affected individuals. Only a few approaches (Epigallocatechine gallate, NAP/SAL, fluoxetine, and apigenin) have been used to treat mice in utero; these showed therapeutic effects that persisted to adulthood. In this article, we discuss the challenges, recent progress, and lessons learned that pave the way for new therapeutic approaches in Down syndrome.

  5. Periodontal disease in individuals with Down Syndrome: genetic focus

    Directory of Open Access Journals (Sweden)

    Lícia Bezerra Cavalcante

    2009-12-01

    Full Text Available Fundamental concepts of etiology, inheritance and clinical characteristics of Down syndrome are used in this review as a basis for submission of studies that focus on periodontal disease in individuals with Down syndrome, since almost 100% of them develop the disease in adult life. It is believed that in association with environmental and cultural factors related to hygiene and disabilities of coordination, the immunological characteristics that are found altered in individuals with Down syndrome, such as deficient neutrophil chemotaxis and reduced number of mature T lymphocytes, may contribute to the greater prevalence and severity of periodontal involvement in patients with Down syndrome. Moreover, the pattern of periodontal destruction observed in individuals with Down syndrome is consistent with aggressive periodontitis, with a predominance of periodontopathogens such as Aggregatibacter actinomycetemcomitans, Porphyromonas gingivalis and Tannerella forsythensis during childhood and adolescence of Down’s syndrome patients. It is possible to note a relationship between the development of molecular techniques and the evolution of knowledge about Down syndrome, for example: identification of the trisomy syndrome by observing only part of chromosome 21 (distal long arm; identification of genes in this trisomic region and the pattern of superexpression (or not of these genes. Moreover, in this review future perspectives are presented with regard to better understanding Down syndrome in the genetic context, which will reflect in more individualized and effective clinical treatments that will provide these patients with a better quality of life.

  6. Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

    Directory of Open Access Journals (Sweden)

    Intae Choi

    2017-08-01

    Full Text Available The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea’s metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

  7. Informed choice about Down syndrome screening

    DEFF Research Database (Denmark)

    Skjøth, Mette Maria; Draborg, Eva; Lamont, Ronald Francis

    2015-01-01

    INTRODUCTION: The aim of this study was to evaluate the effect of an eHealth intervention (interactive website) on pregnant women's ability to make an informed choice about Down syndrome screening. MATERIAL AND METHODS: The study was designed as a randomized controlled trial with allocation...... to an intervention group and a control group in a ratio of 1:1. Subsequent subgroup analysis was conducted. Participants were recruited from 5 August 2013 to 25 April 2014 at Odense University Hospital, Denmark. Inclusion criteria were: pregnant women aged ≥18 years who were invited to participate in Down syndrome...... screening. Exclusion criteria were: high risk of abortion, psycho-socially vulnerable women, late referral, inability to speak Danish and women declining to participate. The primary outcome was informed choice about Down syndrome screening. The Multidimensional Measure of Informed Choice was used to assess...

  8. Impairment of circulating endothelial progenitors in Down syndrome

    Directory of Open Access Journals (Sweden)

    Costa Valerio

    2010-09-01

    Full Text Available Abstract Background Pathological angiogenesis represents a critical issue in the progression of many diseases. Down syndrome is postulated to be a systemic anti-angiogenesis disease model, possibly due to increased expression of anti-angiogenic regulators on chromosome 21. The aim of our study was to elucidate some features of circulating endothelial progenitor cells in the context of this syndrome. Methods Circulating endothelial progenitors of Down syndrome affected individuals were isolated, in vitro cultured and analyzed by confocal and transmission electron microscopy. ELISA was performed to measure SDF-1α plasma levels in Down syndrome and euploid individuals. Moreover, qRT-PCR was used to quantify expression levels of CXCL12 gene and of its receptor in progenitor cells. The functional impairment of Down progenitors was evaluated through their susceptibility to hydroperoxide-induced oxidative stress with BODIPY assay and the major vulnerability to the infection with human pathogens. The differential expression of crucial genes in Down progenitor cells was evaluated by microarray analysis. Results We detected a marked decrease of progenitors' number in young Down individuals compared to euploid, cell size increase and some major detrimental morphological changes. Moreover, Down syndrome patients also exhibited decreased SDF-1α plasma levels and their progenitors had a reduced expression of SDF-1α encoding gene and of its membrane receptor. We further demonstrated that their progenitor cells are more susceptible to hydroperoxide-induced oxidative stress and infection with Bartonella henselae. Further, we observed that most of the differentially expressed genes belong to angiogenesis, immune response and inflammation pathways, and that infected progenitors with trisomy 21 have a more pronounced perturbation of immune response genes than infected euploid cells. Conclusions Our data provide evidences for a reduced number and altered

  9. Brief Report: Repetitive Behaviour Profiles in Williams Syndrome: Cross Syndrome Comparisons with Prader-Willi and Down Syndromes

    Science.gov (United States)

    Royston, R.; Oliver, C.; Moss, J.; Adams, D.; Berg, K.; Burbidge, C.; Howlin, P.; Nelson, L.; Stinton, C.; Waite, J.

    2018-01-01

    This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were…

  10. Prenatal treatment prevents learning deficit in Down syndrome model.

    Science.gov (United States)

    Incerti, Maddalena; Horowitz, Kari; Roberson, Robin; Abebe, Daniel; Toso, Laura; Caballero, Madeline; Spong, Catherine Y

    2012-01-01

    Down syndrome is the most common genetic cause of mental retardation. Active fragments of neurotrophic factors release by astrocyte under the stimulation of vasoactive intestinal peptide, NAPVSIPQ (NAP) and SALLRSIPA (SAL) respectively, have shown therapeutic potential for developmental delay and learning deficits. Previous work demonstrated that NAP+SAL prevent developmental delay and glial deficit in Ts65Dn that is a well-characterized mouse model for Down syndrome. The objective of this study is to evaluate if prenatal treatment with these peptides prevents the learning deficit in the Ts65Dn mice. Pregnant Ts65Dn female and control pregnant females were randomly treated (intraperitoneal injection) on pregnancy days 8 through 12 with saline (placebo) or peptides (NAP 20 µg +SAL 20 µg) daily. Learning was assessed in the offspring (8-10 months) using the Morris Watermaze, which measures the latency to find the hidden platform (decrease in latency denotes learning). The investigators were blinded to the prenatal treatment and genotype. Pups were genotyped as trisomic (Down syndrome) or euploid (control) after completion of all tests. two-way ANOVA followed by Neuman-Keuls test for multiple comparisons, PDown syndrome-placebo; n = 11) did not demonstrate learning over the five day period. DS mice that were prenatally exposed to peptides (Down syndrome-peptides; n = 10) learned significantly better than Down syndrome-placebo (ptreatment with the neuroprotective peptides (NAP+SAL) prevented learning deficits in a Down syndrome model. These findings highlight a possibility for the prevention of sequelae in Down syndrome and suggest a potential pregnancy intervention that may improve outcome.

  11. Myxedema coma in a patient with Down's syndrome.

    Science.gov (United States)

    Bansal, Darpan; Nanda, Ashish; Gupta, Ekta; Croker, Mary; Williams, Misty L; Bacchus, Amy; Simmons, Debra; Erbland, Marcia

    2006-11-01

    hyroid dysfunction is common in Down's syndrome, most common being hypothyroidism. Longstanding, untreated hypothyroidism can lead to myxedema coma. Here we report a patient with Down's syndrome who presented with myxedema coma. The three essential elements for the diagnosis of myxedema coma include altered mental status, defective thermoregulation and a precipitating event or illness; all of these were present in our patient. Also, very high TSH, low T3 and T4, and the rapid response to the treatment with levothyroxine confirmed the diagnosis. Patients with Down's syndrome should have regular screening for thyroid dysfunction.

  12. What Causes Down Syndrome?

    Science.gov (United States)

    ... Division Offices, Branches & Programs Research Areas Training and Recruitment Division of Intramural Research (DIR) Office of the ... launched DS-Connect® as a safe and secure online registry for people with Down syndrome, their families, ...

  13. Aging and Down Syndrome

    Science.gov (United States)

    ... to be aw are of the connec tion bet ween Down syndrome and Alzheimer ’s disea se so ... albeing cared for. Make aneffor tto be proactive, thinking ahead to anticipate needs and concerns. x x ...

  14. The impact of Down syndrome screening on Taiwanese Down syndrome births: a nationwide retrospective study and a screening result from a single medical centre.

    Directory of Open Access Journals (Sweden)

    Shin-Yu Lin

    Full Text Available A retrospective analysis of the Taiwanese National Birth Defect Registration and Notification System was conducted in order to determine the live birth- and stillbirth rates in infants with Down syndrome, trisomy 18, trisomy 13 and Turner syndrome between 2001 and 2010. The objective was to investigate the impact of Down syndrome screening on the Taiwanese Down syndrome live birth rate. In addition, the results of first-trimester Down syndrome screening between 2006 and 2011, and of second-trimester quadruple testing between 2008 and 2011, were obtained from the National Taiwan University Hospital. All Taiwanese infants born between 2001 and 2010 were included in the first part of the analysis, and women receiving first-trimester Down syndrome screening or second-trimester quadruple testing from the National Taiwan University Hospital were included in the second part. The live birth rate of infants with Down syndrome, per 100 000 live births, decreased from 22.28 in 2001 to 7.79 in 2010. The ratio of liveborn DS to total DS was 48.74% in 2001, and then decreased to 25.88% in 2006, when first-trimester screening was widely introduced in Taiwan. This ratio dropped to 20.64% in 2008, when the second-trimester quadruple test was implemented. The overall positive rate in first-trimester screening in the National Taiwan University Hospital was 3.1%, with a Down syndrome detection rate of 100%; the quadruple test had values of 9.0% and 75%, respectively. The use of first-trimester screening and the second-trimester quadruple test may be responsible for the marked decrease in the Taiwanese Down syndrome live birth rate observed between 2001 and 2010.

  15. Down syndrome preleukemia and leukemia.

    Science.gov (United States)

    Maloney, Kelly W; Taub, Jeffrey W; Ravindranath, Yaddanapudi; Roberts, Irene; Vyas, Paresh

    2015-02-01

    Children with Down syndrome (DS) and acute leukemias acute have unique biological, cytogenetic, and intrinsic factors that affect their treatment and outcome. Myeloid leukemia of Down syndrome (ML-DS) is associated with high event-free survival (EFS) rates and frequently preceded by a preleukemia condition, the transient abnormal hematopoiesis (TAM) present at birth. For acute lymphoblastic leukemia (ALL), their EFS and overall survival are poorer than non-DS ALL, it is important to enroll them on therapeutic trials, including relapse trials; investigate new agents that could potentially improve their leukemia-free survival; and strive to maximize the supportive care these patients need. Copyright © 2015 Elsevier Inc. All rights reserved.

  16. Fine motor skills in children with Down syndrome

    Directory of Open Access Journals (Sweden)

    Memišević Haris

    2014-01-01

    Full Text Available Fine motor skills are very important for children's overall functioning. Their development is necessary for many everyday activities such as dressing, feeding, holding objects, etc. Moreover, fine motor skills are also correlated to the children's academic success at school. Recent research suggests a close relationship between motor skills and intelligence. Given the relative paucity of literature on fine motor skills in different etiological groups of children with intellectual disability (ID, we examined these skills in children with Down syndrome. The sample for this study comprised 90 children with ID, aged 7-15, who were divided in three etiological groups: 1. Down syndrome, 2. Organic/other genetic cause of ID and 3. Unknown etiology of ID. Fine motor skills were assessed by the Purdue Pegboard Test. The results of this study indicate that children with Down syndrome did not differ statistically significantly from the other two etiological groups. On the other hand, children with unknown etiology of ID performed statistically better than children with organic/other genetic cause of ID. An additional goal was to examine fine motor skills in children with Down syndrome in relation to the child's sex. There were no statistically significant differences in fine motor skills between girls and boys with Down syndrome. It is important to provide children with Down syndrome, and all other children with ID, with early (rehabilitation programs for the improvement of their fine motor skills. Special educators and rehabilitators should play a crucial role in the assessment and in creating programs for the development of these skills.

  17. The impact of autism spectrum disorder symptoms on gesture use in fragile X syndrome and Down syndrome

    Directory of Open Access Journals (Sweden)

    Emily Lorang

    2017-12-01

    Full Text Available Background & aims This study compared gesture rate and purpose in participants with Down syndrome and fragile X syndrome, and the impact of autism spectrum disorder symptoms on each syndrome. Methods Twenty individuals with fragile X syndrome and 20 individuals with Down syndrome between nine and 22 years of age participated in this study. We coded gesture rate and purpose from an autism spectrum disorder evaluation, the Autism Diagnostic Observation Schedule – Second Edition. Results We did not find between-group differences (Down syndrome compared to fragile X syndrome in gesture rate or purpose. Notably, as autism spectrum disorder symptoms increased, the group with Down syndrome produced a lower rate of gestures, but used gestures for the same purpose. Gesture rate did not change based on autism spectrum disorder symptoms in the participants with fragile X syndrome, but as autism spectrum disorder symptoms increased, the participants with fragile X syndrome produced a larger proportion of gestures to regulate behavior and a smaller proportion for joint attention/social interaction. Conclusions Overall, the amount or purpose of gestures did not differentiate individuals with Down syndrome and fragile X syndrome. However, the presence of autism spectrum disorder symptoms had a significant and unique impact on these genetic disorders. In individuals with Down syndrome, the presence of more autism spectrum disorder symptoms resulted in a reduction in the rate of gesturing, but did not change the purpose. However, in fragile X syndrome, the rate of gestures remained the same, but the purpose of those gestures changed based on autism spectrum disorder symptoms. Implications Autism spectrum disorder symptoms differentially impact gestures in Down syndrome and fragile X syndrome. Individuals with Down syndrome and more autism spectrum disorder symptoms are using gestures less frequently. Therefore, clinicians may need to consider children with

  18. Pre-natal counselling and diagnosis in Down's syndrome.

    Science.gov (United States)

    Papp, Z

    1973-01-01

    Today Down's syndrome is recognizable on the basis of its clinical c haracteristics in infants. According to present knowledge, Down's syndr ome can be classified cytogenetically into 4 groups: regular trisomy, translocational trisomy, mosaic forms and double trisomies. Knowledge of the karyotype is used in genetic counselling for further prevention of Down's syndrome in unborn fetuses. Prenatal chromosome analyses, a form of intrauterine diagnosis, has been used in Hungary since 1968. The average incidence of Down's syndrome has been estimated at 1.5:1000 among newborns. The mother's age and genetic deviations are determinant s in whether or not the syndrome will occur. The risk of Down's syndrome increases from 1 per 1000 in mothers under 30 to 10-20 per 1000 in mothers over 45. Since risk increases with the mother's age amniocen tesis should be routinely performed in pregnancies of older mothers. In the case of trisomy verified by intrauterine diagnosis, termination of pregnancy is advised. If population cytogenetic investigations are practiced, the carriers of the balanced translocation will be revealed and within a few years there will be only 3 indications for amniocentesis: 1) in cases of mother's advanced age, 2) in cases of bala nced translocation carrier and 3) in cases of a previously affected chil d disregarding the parental karyotypes. The expected risk of Down's syn drome predictable from available data if higher than 1-5% justifies intr auterine chromosome analysis.

  19. Posterior urethral valves and Down syndrome | Lazarus | African ...

    African Journals Online (AJOL)

    The broad range of renal and urinary tract abnormalities associated with Down syndrome are not well known. We present two cases from a single institution of posterior urethral valves associated with Down syndrome. The cases illustrate the potential for delayed diagnosis and the management challenges. The literature is ...

  20. Concomitant occurrence of cochleosaccular dysplasia and Down's syndrome.

    Science.gov (United States)

    Walby, A P; Schuknecht, H F

    1984-07-01

    Inherited cochleosaccular dysplasia occurred in a woman coincidentally with Down's syndrome. Study of the right temporal bone revealed abnormalities of the cochlea and saccule consistent with Scheibe 's original description. There was also a short cochlea and small lateral semicircular canal consistent with previous descriptions of Down's syndrome.

  1. Teaching spontaneous responses to a young child with Down syndrome.

    Science.gov (United States)

    Feeley, Kathleen; Jones, Emily

    2008-10-01

    Children with Down syndrome experience significant communication impairments, particularly in expressive language. Although receiving little attention in the literature, deficiencies in expressive language are likely to affect spontaneous communicative responses in children with Down syndrome. In this study, using a multiple baseline design across responses, we demonstrated the effectiveness of discrete trial instruction in establishing spontaneous responses in a preschooler with Down syndrome. Spontaneous responses generalised to a novel setting involving a novel person and novel materials. Implications for the use of behaviourally based interventions to address the social-communicative needs of children with Down syndrome are discussed.

  2. Orthodontic treatment considerations in Down syndrome patients

    Directory of Open Access Journals (Sweden)

    Sianiwati Goenharto

    2012-03-01

    Full Text Available Background: Down syndrome is an easily recognized congenital disease anomaly, a common autosomal chromosomal anomaly with high prevalence of malocclusion. Orthodontic treatment demand should be high but it seems difficult to be done because of specific condition of disability. Purpose: The purpose of this literature review was to discribe the orthodontic problems found in Down syndrome patients and several consideration that shoud be done to treat them. Reviews: Many studies report the high prevalence of malocclusion among people with Down syndrome. There is a greater frequency of clas III relationship, crossbite, crowding and also open bite. Several problems might appear in the treatment because of dental, medical, mental, and behavioural factor. Conclusion: It is concluded that orthodonic treatment can be performed in Down syndrome patient, although several difficulties may appear. Good consideration in mental, behavior, medical and also dental condition will influence whether the treatment will success or not. Special care and facilities will support the orthodontic treatment.Latar belakang: Sindroma Down adalah suatu kelainan congenital yang mudah dikenali, merupakan kelaian kromosom autosomal yang cukup banyak terjadi, dengan prevalensi maloklusi cukup tinggi. Seharusnya permintaan akan perawatan ortodonti juga tinggi meskipun tampaknya sulit dilakukan karena adanya kondisi ketidakmampuan/cacat yang spesifik. Tujuan: Tujuan studi pustaka ini adalah untuk menggambarkan problem perawatan ortodonti pada penderita sindroma Down dan pertimbangan apa yang sebaiknya diambil untuk mengatasi masalah tersebut. Tinjauan pustaka: Banyak penelitian melaporkan tentang prevalensi maloklusi yang tinggi pada penderita sindroma Down. Maloklusi yang sering dijumpai adalah relasi klas III, gigitan silang, berdesakan dan juga gigitan terbuka. Problem dapat terjadi saat perawatan ortodonti karena adanya faktor dental, medis, mental dan tingkah laku penderita

  3. Web Untuk Deteksi Dini Tingkat Retardasi Down Syndrome Pada Anak

    OpenAIRE

    Leonita, Christine; Sevani, Nina

    2015-01-01

    Down Syndrome is a condition of physical and mental development's retardation in children that caused by abnormalities in the development of the chromosome. However, behind the special needs held by children with Down syndrome, they have a chance to live like any other normal child.This study aims to create a web-base application that can assist parents to make early detection of the retardation level of Down Syndrome in children, as well as provide information about how to deal with Down Syn...

  4. Risikovurdering for Downs syndrom i Danmark - sekundærpublikation

    DEFF Research Database (Denmark)

    Ekelund, Charlotte Kvist; Andersen, Hans Jakob; Christensen, Jeanette

    2010-01-01

    In 2004 The Danish National Board of Health introduced a new guideline regarding prenatal screening. All pregnant women are now offered a Down's syndrome risk assessment. The new guideline has had an impact on the number of invasive early prenatal procedures. The number of procedures fell by 50......% from 2000 to 2006. 90% of the foetuses with Down's syndrome are detected prenatally. Denmark is one of the first countries in the world in which risk assessment for Down's syndrome has been successfully implemented at a national level....

  5. Abnormal serum IgG subclass pattern in children with Down's syndrome.

    Science.gov (United States)

    Annerén, G; Magnusson, C G; Lilja, G; Nordvall, S L

    1992-05-01

    Susceptibility to infections is a well known feature of Down's syndrome. The possible relation between this predisposition and the serum concentrations of the IgG subclasses was studied in 38 children with Down's syndrome aged 1-12 years. An age matched group of 50 healthy children served as controls. The serum concentrations of IgG1 and IgG3 were significantly raised among children with Down's syndrome in all three age groups studied (that is 1-2.5, 4-8, and 9-12 years). The serum concentrations of IgG2 were normal in the first two groups but significantly reduced in the third age group. In contrast, the concentrations of IgG4 among children with Down's syndrome were significantly reduced in all three age groups. Moreover, among the children with Down's syndrome aged 4-12 years 68% (15/22) had IgG4 concentrations below 2 SDs of the geometrical mean of the controls. The results may partially explain the proneness of children with Down's syndrome to infections with encapsulated bacteria. Although the underlying cause of these abnormalities is unknown, IgG subclass determination seems relevant in the clinical evaluation of children with Down's syndrome.

  6. The prevalence of Down syndrome in County Galway.

    Science.gov (United States)

    O'Nualláin, S; Flanagan, O; Raffat, I; Avalos, G; Dineen, B

    2007-01-01

    This is a retrospective survey of all cases of Down syndrome recorded between 1981 and 2000 to mothers resident in Co. Galway. The study compares the incidence of Down syndrome in both decades and examines the effects of changing demographics on incidence rates. The overall prevalence rate was 26.8/10,000 live births for the full period. Although there were 5119 fewer births in the 1991-2000 period, the prevalence was 29.8/10,000 compared to 24.1/10,000 in the previous decade. Despite the falling birth rates and fertility rates observed in our study between the two decades we found that the higher prevalence of Down syndrome in the second decade was directly related to the significant increase in the proportion of women in the 30 plus age group. Our study also found the place of the child with Down syndrome in the family changed, with 25.3% being the 5th or more child in the first decade compared with 9.5% in the second decade.

  7. Narrative Language Competence in Children and Adolescents with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Marie Moore Channell

    2015-10-01

    Full Text Available This study was designed to examine the narrative language abilities of children and adolescents with Down syndrome in comparison to same-age peers with fragile X syndrome and younger typically developing children matched by nonverbal cognitive ability levels. Participants produced narrative retells from a wordless picture book. Narratives were analyzed at the macrostructural (i.e., their internal episodic structure and the microstructural (i.e., rate of use of specific word categories levels. Mean length of utterance, a microstructural metric of syntactic complexity, was used as a control variable. Participants with Down syndrome produced fewer episodic elements in their narratives (i.e., their narratives were less fully realized than the typically developing participants, although mean length of utterance differences accounted for the macrostructural differences between participant groups. At the microstructural level, participants with Down syndrome displayed a lower rate of verb use than the groups with fragile X syndrome and typical development, even after accounting for mean length of utterance. These findings reflect both similarities and differences between individuals with Down syndrome or fragile X syndrome and contribute to our understanding of the language phenotype of Down syndrome. Implications for interventions to promote language development and academic achievement are discussed.

  8. Providing information about prenatal screening for Down syndrome

    DEFF Research Database (Denmark)

    Skjøth, Mette Maria; Draborg, Eva; Pedersen, Claus Duedal

    2015-01-01

    BACKGROUND: In recent decades there have been advances in the options for prenatal screening. Screening programmes for Down syndrome are well established in many countries. It is important that pregnant women are well informed about the benefits and risks of screening. A variety of interventions...... screening for Down syndrome. DESIGN: SYSTEMATIC REVIEW: METHODS: A systematic search was performed using the PUBMED and EMBASE databases. The search terms included MeSH terms and free text and were combined by Boolean terms (AND, OR) with no restriction on language or time. MAIN OUTCOME MEASURES: Main...... information about prenatal screening for Down syndrome can improve their ability to make an informed choice. This article is protected by copyright. All rights reserved....

  9. Risikovurdering for Downs syndrom i Danmark - sekundærpublikation

    DEFF Research Database (Denmark)

    Ekelund, Charlotte Kvist; Andersen, Hans Jakob; Christensen, Jeanette

    2010-01-01

    In 2004 The Danish National Board of Health introduced a new guideline regarding prenatal screening. All pregnant women are now offered a Down's syndrome risk assessment. The new guideline has had an impact on the number of invasive early prenatal procedures. The number of procedures fell by 50......% from 2000 to 2006. 90% of the foetuses with Down's syndrome are detected prenatally. Denmark is one of the first countries in the world in which risk assessment for Down's syndrome has been successfully implemented at a national level. Udgivelsesdato: 2010-Jun-7...

  10. Preimplantation genetic diagnosis for Down syndrome pregnancy

    Institute of Scientific and Technical Information of China (English)

    ZHANG Yu; XU Chen-ming; ZHU Yi-min; DONG Min-yue; QIAN Yu-li; JIN Fan; HUANG He-feng

    2007-01-01

    Objective: To evaluate the effect of preimplantation genetic diagnosis (PGD) conducted for women who had Down syndrome pregnancy previously. Methods: Trisomy 21 was diagnosed by using fluorescence in site hybridization (FISH) before embryo transfer in two women who had Down syndrome pregnancies. Each received one or two PGD cycles respectively. Results:Case 1: one PGD cycle was conducted, two oocytes were fertilized and biopsied. One embryo is of trisomy 21 and the other of monosomy 21. No embryo was transferred. Case 2: two PGD cycles were conducted, in total, sixteen oocytes were fertilized and biopsied. Four embryos were tested to be normal, six of trisomy 21, and one of monosomy 21. Five had no signal. Four normal embryos were transferred but no pregnancy resulted. Conclusion: For couples who had pregnancies with Down syndrome previously, PGD can be considered, and has been shown to be an effective strategy.

  11. Reflections on the pathogenesis of Down syndrome.

    Science.gov (United States)

    Opitz, J M; Gilbert-Barness, E F

    1990-01-01

    Present efforts to identify, isolate, and characterize in molecular terms the "consensus" segment of 21q sufficient to cause most of the major and some of the most characteristic minor manifestations of Down syndrome will soon provide answers to many questions. However, we think that a reductionist approach to explain the Down syndrome phenotype in a "linear" manner from the DNA sequence of the segment will be doomed to failure from the outset because of the open, complex, nonlinear, hierarchical nature of morphogenetic systems. Neo-Darwinism is under strong attack; most genetic changes accumulated over time may very well be of neutral effect, and detailed studies in several related groups of vertebrate species has shown that molecular and organismal evolution are largely independent of one another. It has been pointed out recently that biology lacks a theory of ontogenetic and phylogenetic development, and that a purely "genocentric" view of biology at the expense of the complexly hierarchical intrinsic epigenetic attributes of developmental systems is "out of focus with respect to ... biological organization and morphogenesis," and may be "a residue of nineteenth century romantic idealism." Down syndrome impresses us as a paradigm of increased developmental variability due to a deceleration of the rate of development (neoteny) with many anomalies of incomplete morphogenesis (vestigia), atavisms, increased morphometric variability with many decreased means, increased variances, and increased fluctuating asymmetry. These abnormalities, together with highly increased risk of prenatal death and postnatal morbidity, impaired growth, and abnormal CNS and gonadal structure and function characteristic of most aneuploidy syndromes, suggest to us that the pathogenesis of Down syndrome is best viewed in terms of the mechanisms of speciation. Transgenic experiment involving sequential or overlapping pieces of "the consensus segment" on distal 21q22.1-22.3 may help decide to

  12. Brief Communication: Maternal Plasma Autoantibodies Screening in Fetal Down Syndrome

    Directory of Open Access Journals (Sweden)

    Karol Charkiewicz

    2016-01-01

    Full Text Available Imbalance in the metabolites levels which can potentially be related to certain fetal chromosomal abnormalities can stimulate mother’s immune response to produce autoantibodies directed against proteins. The aim of the study was to determine the concentration of 9000 autoantibodies in maternal plasma to detect fetal Down syndrome. Method. We performed 190 amniocenteses and found 10 patients with confirmed fetal Down syndrome (15th–18th weeks of gestation. For the purpose of our control we chose 11 women without confirmed chromosomal aberration. To assess the expression of autoantibodies in the blood plasma, we used a protein microarray, which allows for simultaneous determination of 9000 proteins per sample. Results. We revealed 213 statistically significant autoantibodies, whose expression decreased or increased in the study group with fetal Down syndrome. The second step was to create a classifier of Down syndrome pregnancy, which includes 14 antibodies. The predictive value of the classifier (specificity and sensitivity is 100%, classification errors, 0%, cross-validation errors, 0%. Conclusion. Our findings suggest that the autoantibodies may play a role in the pathophysiology of Down syndrome pregnancy. Defining their potential as biochemical markers of Down syndrome pregnancy requires further investigation on larger group of patients.

  13. Posterior urethral valves and Down syndrome

    African Journals Online (AJOL)

    J. Lazarus

    2015 Pan African Urological Surgeons' Association. Production and hosting by Elsevier B.V. All rights reserved. Introduction. The first description of Down syndrome (DS) was in 1866 by the. British physician Dr. John Langdon Down [1]. Despite this long his- tory, the association of DS with congenital anomalies of the kidney.

  14. Genetics Home Reference: Down syndrome

    Science.gov (United States)

    ... called autism spectrum disorders, which affect communication and social interaction. People with Down syndrome often experience a gradual ... Kennedy Shriver National Institute of Child Health and Human Development GeneEd National Human Genome Research Institute National ...

  15. Prune belly syndrome in an Egyptian infant with Down syndrome: A case report

    Directory of Open Access Journals (Sweden)

    Metwalley Kotb A

    2008-10-01

    Full Text Available Abstract Introduction Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. Case presentation A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 μmol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. Conclusion We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  16. Prune belly syndrome in an Egyptian infant with Down syndrome: a case report.

    Science.gov (United States)

    Metwalley, Kotb A; Farghalley, Hekma S; Abd-Elsayed, Alaa A

    2008-10-02

    Prune belly syndrome is a rare congenital anomaly of uncertain aetiology almost exclusive to males. The association between prune belly syndrome and Down syndrome is very rare. A 4-month-old Egyptian boy was admitted to our institute for management of acute bronchiolitis. He was born at full term by normal vaginal delivery. His mother, a 42-year-Egyptian villager with six other children, had no antenatal or prenatal care. On examination, the boy was found to be hypotonic. In addition to features of Down syndrome, karyotyping confirmed the diagnosis of trisomy 21. Ultrasound examination of the abdomen showed bilateral gross hydronephrosis with megaureter. Micturating cystourethrography showed grade V vesicoureteric reflux bilaterally with no urethral obstruction. Serum creatinine concentration was 90 mumol/litre, serum sodium was 132 mmol/litre and serum potassium was 5.9 mmol/litre. We report an Egyptian infant with Down syndrome and prune belly syndrome. The incidence of this association is unknown. Routine antenatal ultrasonography will help in discovering renal anomalies which can be followed postnatally. Postnatal detection of prune belly syndrome necessitates full radiological investigation to detect any renal anomalies. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

  17. Do the MTHFR gene polymorphism and Down syndrome pregnancy ...

    African Journals Online (AJOL)

    Background: Down syndrome, the most common trisomy 21 arises from abnormal chromosomal segregation. The etiology includes genetic and acquired factors. The main genetic factor that is well appreciated for onset of Down syndrome pregnancy is MTHFR gene polymorphism. But till date, no final conclusion has arrived ...

  18. Upper airway morphology in Down Syndrome patients under dexmedetomidine sedation

    Directory of Open Access Journals (Sweden)

    Rajeev Subramanyam

    Full Text Available Abstract Background and objectives: Children with Down Syndrome are vulnerable to significant upper airway obstruction due to relative macroglossia and dynamic airway collapse. The objective of this study was to compare the upper airway dimensions of children with Down Syndrome and obstructive sleep apnea with normal airway under dexmedetomidine sedation. Methods: IRB approval was obtained. In this retrospective study, clinically indicated dynamic sagittal midline magnetic resonance images of the upper airway were obtained under low (1 mcg/kg/h and high (3 mcg/kg/h dose dexmedetomidine. Airway anteroposterior diameters and sectional areas were measured as minimum and maximum dimensions by two independent observers at soft palate (nasopharyngeal airway and at base of the tongue (retroglossal airway. Results and conclusions: Minimum anteroposterior diameter and minimum sectional area at nasopharynx and retroglossal airway were significantly reduced in Down Syndrome compared to normal airway at both low and high dose dexmedetomidine. However, there were no significant differences between low and high dose dexmedetomidine in both Down Syndrome and normal airway. The mean apnea hypopnea index in Down Syndrome was 16 ± 11. Under dexmedetomidine sedation, children with Down Syndrome and obstructive sleep apnea when compared to normal airway children show significant reductions in airway dimensions most pronounced at the narrowest points in the nasopharyngeal and retroglossal airways.

  19. Upper airway morphology in Down Syndrome patients under dexmedetomidine sedation.

    Science.gov (United States)

    Subramanyam, Rajeev; Fleck, Robert; McAuliffe, John; Radhakrishnan, Rupa; Jung, Dorothy; Patino, Mario; Mahmoud, Mohamed

    2016-01-01

    Children with Down Syndrome are vulnerable to significant upper airway obstruction due to relative macroglossia and dynamic airway collapse. The objective of this study was to compare the upper airway dimensions of children with Down Syndrome and obstructive sleep apnea with normal airway under dexmedetomidine sedation. IRB approval was obtained. In this retrospective study, clinically indicated dynamic sagittal midline magnetic resonance images of the upper airway were obtained under low (1mcg/kg/h) and high (3mcg/kg/h) dose dexmedetomidine. Airway anteroposterior diameters and sectional areas were measured as minimum and maximum dimensions by two independent observers at soft palate (nasopharyngeal airway) and at base of the tongue (retroglossal airway). Minimum anteroposterior diameter and minimum sectional area at nasopharynx and retroglossal airway were significantly reduced in Down Syndrome compared to normal airway at both low and high dose dexmedetomidine. However, there were no significant differences between low and high dose dexmedetomidine in both Down Syndrome and normal airway. The mean apnea hypopnea index in Down Syndrome was 16±11. Under dexmedetomidine sedation, children with Down Syndrome and obstructive sleep apnea when compared to normal airway children show significant reductions in airway dimensions most pronounced at the narrowest points in the nasopharyngeal and retroglossal airways. Copyright © 2015 Sociedade Brasileira de Anestesiologia. Published by Elsevier Editora Ltda. All rights reserved.

  20. [Upper airway morphology in Down Syndrome patients under dexmedetomidine sedation].

    Science.gov (United States)

    Subramanyam, Rajeev; Fleck, Robert; McAuliffe, John; Radhakrishnan, Rupa; Jung, Dorothy; Patino, Mario; Mahmoud, Mohamed

    2016-01-01

    Children with Down Syndrome are vulnerable to significant upper airway obstruction due to relative macroglossia and dynamic airway collapse. The objective of this study was to compare the upper airway dimensions of children with Down Syndrome and obstructive sleep apnea with normal airway under dexmedetomidine sedation. IRB approval was obtained. In this retrospective study, clinically indicated dynamic sagittal midline magnetic resonance images of the upper airway were obtained under low (1mcg/kg/h) and high (3mcg/kg/h) dose dexmedetomidine. Airway anteroposterior diameters and sectional areas were measured as minimum and maximum dimensions by two independent observers at soft palate (nasopharyngeal airway) and at base of the tongue (retroglossal airway). Minimum anteroposterior diameter and minimum sectional area at nasopharynx and retroglossal airway were significantly reduced in Down Syndrome compared to normal airway at both low and high dose dexmedetomidine. However, there were no significant differences between low and high dose dexmedetomidine in both Down Syndrome and normal airway. The mean apnea hypopnea index in Down Syndrome was 16±11. Under dexmedetomidine sedation, children with Down Syndrome and obstructive sleep apnea when compared to normal airway children show significant reductions in airway dimensions most pronounced at the narrowest points in the nasopharyngeal and retroglossal airways. Copyright © 2015 Sociedade Brasileira de Anestesiologia. Publicado por Elsevier Editora Ltda. All rights reserved.

  1. Explaining variation in Down's syndrome screening uptake

    DEFF Research Database (Denmark)

    Crombag, Neeltje M T H; Vellinga, Ynke E; Kluijfhout, Sandra A

    2014-01-01

    ), in an attempt to explain the observed variation in national uptake rates. METHODS: We used a mixed methods approach with an embedded design: a) documentary analysis and b) expert stakeholder analysis. National central statistical offices and legal documents were studied first to gain insight in demographic....... RESULTS: There were many similarities in the demographics, healthcare systems, government abortion legislation and Down's syndrome screening policy across the studied countries. However, the additional cost for Down's syndrome screening over and above standard antenatal care in the Netherlands...

  2. Violence: heightened brain attentional network response is selectively muted in Down syndrome.

    Science.gov (United States)

    Anderson, Jeffrey S; Treiman, Scott M; Ferguson, Michael A; Nielsen, Jared A; Edgin, Jamie O; Dai, Li; Gerig, Guido; Korenberg, Julie R

    2015-01-01

    The ability to recognize and respond appropriately to threat is critical to survival, and the neural substrates subserving attention to threat may be probed using depictions of media violence. Whether neural responses to potential threat differ in Down syndrome is not known. We performed functional MRI scans of 15 adolescent and adult Down syndrome and 14 typically developing individuals, group matched by age and gender, during 50 min of passive cartoon viewing. Brain activation to auditory and visual features, violence, and presence of the protagonist and antagonist were compared across cartoon segments. fMRI signal from the brain's dorsal attention network was compared to thematic and violent events within the cartoons between Down syndrome and control samples. We found that in typical development, the brain's dorsal attention network was most active during violent scenes in the cartoons and that this was significantly and specifically reduced in Down syndrome. When the antagonist was on screen, there was significantly less activation in the left medial temporal lobe of individuals with Down syndrome. As scenes represented greater relative threat, the disparity between attentional brain activation in Down syndrome and control individuals increased. There was a reduction in the temporal autocorrelation of the dorsal attention network, consistent with a shortened attention span in Down syndrome. Individuals with Down syndrome exhibited significantly reduced activation in primary sensory cortices, and such perceptual impairments may constrain their ability to respond to more complex social cues such as violence. These findings may indicate a relative deficit in emotive perception of violence in Down syndrome, possibly mediated by impaired sensory perception and hypoactivation of medial temporal structures in response to threats, with relative preservation of activity in pro-social brain regions. These findings indicate that specific genetic differences associated

  3. Depression and Anorexia Nervosa of Persons with Down Syndrome.

    Science.gov (United States)

    Szymanski, Ludwik S.; Biederman, Joseph

    1984-01-01

    Manifestations of depression in three adults wth Down syndrome, one of whom also exhibited anorexia nervosa, are described. Overall findings indicate that major depression in Down syndrome may be more frequent than previously assumed and that it can be diagnosed with standard diagnostic criteria, modified according to the patient's developmental…

  4. Social - pragmatic skills of children with Down syndrome

    OpenAIRE

    Svetec, Anamarie

    2016-01-01

    The theoretical grounds have covered discoveries, learned through different literature, about characteristics of communication, speech and language of children with Down syndrome. It describes causes in children with Down syndrome that have an impact on the slower development of these elements. We are clarifying the concepts of pragmatics and socio-pragmatic skill that are in Slovenian-speaking territory much less explained and described. In the following section we describe the characteristi...

  5. Down syndrome: a risk factor for mycotic aneurysm?

    LENUS (Irish Health Repository)

    Naughton, Peter A

    2011-03-29

    Down syndrome, or trisomy 21, has a characteristic constellation of clinical findings, including various congenital heart defects. We report a case of an adult male with Down syndrome who presented with a 3-week history of lower limb pain and swelling, attributed to cellulitis. Clinical and angiographic evaluation identified a below-knee mycotic pseudoaneurysm secondary to infective endocarditis. Surgical aneurysmal repair and revascularization were performed. Various management options are outlined in this report.

  6. The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

    Science.gov (United States)

    Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

    2015-06-01

    The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc.

  7. Down Syndrome: General Information. Fact Sheet Number 4 = El Sindrome de Down: Informacion General. Fact Sheet Number 15.

    Science.gov (United States)

    Interstate Research Associates, McLean, VA.

    This fact sheet on Down Syndrome is offered in both English and Spanish. First it provides a definition and description of this syndrome, noting its etiology in a chromosomal abnormality. Incidence figures are then given. Typical characteristics of people with Down Syndrome are listed. Commonly associated health-related problems are noted,…

  8. Gait Development during Lifespan in Subjects with Down Syndrome

    Science.gov (United States)

    Rigoldi, Chiara; Galli, Manuela; Albertini, Giorgio

    2011-01-01

    In this work we studied and evaluated the effects of aging in a group of individuals with Down syndrome, using gait analysis as tool of investigation. 32 individuals suffering from Down syndrome (DS) were enrolled in this study as group of pathological participants. The control group (CG) was composed by 36 healthy subjects (10 children, 15…

  9. Down patients with Eisenmenger syndrome: Is bosentan treatment an option?

    NARCIS (Netherlands)

    Duffels, Mariëlle G. J.; Vis, Jeroen C.; van Loon, Rosa L. E.; Berger, Rolf M. F.; Hoendermis, Elke S.; van Dijk, Arie P. J.; Bouma, Berto J.; Mulder, Barbara J. M.

    2009-01-01

    Background: Favorable results of treatment with bosentan in patients with Eisenmenger syndrome are available. However, data in Down patients are lacking. In this study, we evaluate the therapeutic role of bosentan treatment in Down patients with Eisenmenger syndrome. Methods: In this open-label

  10. Down patients with Eisenmenger syndrome : Is bosentan treatment an option?

    NARCIS (Netherlands)

    Duffels, Marielle G. J.; Vis, Jeroen C.; van Loon, Rosa L. E.; Berger, Rolf M. F.; Hoendermis, Elke S.; van Dijk, Arie P. J.; Bouma, Berto J.; Mulder, Barbara J. M.

    2009-01-01

    Background: Favorable results of treatment with bosentan in patients with Eisenmenger syndrome are available. However, data in Down patients are lacking. In this study, we evaluate the therapeutic role of bosentan treatment in Down patients with Eisenmenger syndrome. Methods: In this open-label

  11. Down patients with Eisenmenger syndrome: Is bosentan treatment an option?

    NARCIS (Netherlands)

    Duffels, M.G.; Vis, J.C.; Loon, R.L. van; Berger, R.M.; Hoendermis, E.S.; Dijk, A.P.J. van; Bouma, B.J.; Mulder, B.J.

    2009-01-01

    BACKGROUND: Favorable results of treatment with bosentan in patients with Eisenmenger syndrome are available. However, data in Down patients are lacking. In this study, we evaluate the therapeutic role of bosentan treatment in Down patients with Eisenmenger syndrome. METHODS: In this open-label

  12. Guidelineness of the parameters using integrated test in down syndrome risk prediction

    International Nuclear Information System (INIS)

    Lee, Jin Won; Go, Sung Jin; Kang, Se Sik; Kim, Chang Soo

    2016-01-01

    This study was an evaluation of the significance of each parameter through aimed at pregnant women subjected to screening test(integrated test) in predicting risk of Down syndrome. We retrospectively analysed the correlation of risk of Down's syndrome with Nuchal Translucency(NT) images measured by ultrasound, Pregnancy Associated Plasma Protein A(PAPP-A), alpha-fetoprotein(AFP), unconjugated estriol(uE3), human chorionic gonadotrophin(hCG) and Inhibin A by maternal serum. As a result, a significant correlation with NT, uE3, hCG, Inhibin A is revealed with Down's syndrome risk(P<.001). In ROC analysis, AUC of Inhibin A is analysed as the biggest predictor of Down's syndrome(0.859). And the criterion for cut-off was inhibin A 1.4 MoM(sensitivity 81.8%, specificity 75.9%). In conclusion, Inhibin A was the most useful in parameters to predict Down's syndrome in the integrated test. If we make up for the weakness based on the cut-off value of parameters they will be able to be used as an independent indicator in the risk of Down's syndrome screening

  13. Plasma N-Glycome Signature of Down Syndrome

    NARCIS (Netherlands)

    Borelli, V.; Vanhooren, V.; Lonardi, E.; Reiding, K.R.; Capri, M.; Libert, C.; Garagnani, P.; Salvioli, S.; Franceschi, C.; Wuhrer, M.

    2015-01-01

    In recent years, plasma N-glycans have emerged as biomarkers for health and disease. Here, we studied N-glycomic changes in Down Syndrome (DS). Because of the progeroid phenotype of DS, we focused on the dissection of syndrome- and aging-associated glycomic changes, as well as the interaction

  14. Quality assessment in prospective nuchal translucency screening for Down syndrome

    DEFF Research Database (Denmark)

    Wøjdemann, K R; Christiansen, M; Sundberg, K

    2001-01-01

    OBJECTIVES: To develop and apply a quality control system in a Down syndrome screening study using nuchal translucency as an interventional marker. METHODS: In a prospective Down syndrome screening study fetal nuchal translucency thickness was measured in 9236 of the 10 045 examined pregnancies...

  15. Dementia of Alzheimer-type in adult patients with Down`s syndrome. Its frequency, neuroradiological findings, and biochemical study of risk factors

    Energy Technology Data Exchange (ETDEWEB)

    Sekijima, Yoshiki [Shinshu Univ., Matsumoto, Nagano (Japan). Faculty of Medicine

    1997-06-01

    We examined the frequency, neuroradiological features, and risk factors of Alzheimer-type dementia (DAT) in 123 Japanese adult patients with Down`s syndrome. Among these patients 16 were diagnosed as having DAT. The prevalence of DAT was 0% in the 18- to 39-year-old group, 16% in those aged 40 to 49 years old, and 38% in those over 50 years old. On CT examination, the earliest finding of DAT was atrophy of the temporal lobe. Patients at an advanced stage revealed extensive atrophy of the cerebral hemispheres, frequently associated with calcification of the basal ganglia. {sup 123}I-IMP-SPECT studies showed abnormally decreased isotope uptake in the posterior parietal regions in Down`s syndrome patients with DAT, and a similar finding was also seen in Down`s syndrome patients who showed severe mental retardation. The frequency of the apolipoprotein E (ApoE) E4 in Down`s syndrome patients with DAT was 18.8%, which was higher than that of non-demented Down`s syndrome patients (4.5%) and Japanese non-demented controls (6.7%). In particular, the frequency of the ApoE E4 in patients who developed DAT before 50 years of age was significantly high (28.6%). It is very likely that the ApoE E4 is a risk factor for DAT even in Down`s syndrome patients with a genetic predisposition to Alzheimer`s disease. (author)

  16. Reading Skills in Children with Down Syndrome: A Meta-Analytic Review

    Science.gov (United States)

    Naess, Kari-Anne B.; Melby-Lervag, Monica; Hulme, Charles; Lyster, Solveig-Alma Halaas

    2012-01-01

    The authors examine the reading profile in children with Down syndrome by comparing the nonword decoding skills in children with Down syndrome and typically developing children matched for word recognition level. Journal articles published before 04.05.2010 were identified by using the keyword Down* cross-referenced to "reading", "literacy",…

  17. Effect of core stability exercise on postural stability in children with Down syndrome

    OpenAIRE

    Sobhy M. Aly

    2016-01-01

    Down syndrome is one of the commonest causes of developmental delay in children. Postural stability problems often exist with Down syndrome. To investigate the effect of core stability exercises on postural stability in children with down syndrome. Thirty children (21 boys and 9 girls) with down syndrome, with ages ranged from 6 to 10 years were participated in this study. They were assigned randomlyinto study and control group. Study group received core stability exercises and conventional p...

  18. Maternal Plasma and Amniotic Fluid Chemokines Screening in Fetal Down Syndrome

    Directory of Open Access Journals (Sweden)

    Piotr Laudanski

    2014-01-01

    Full Text Available Objective. Chemokines exert different inflammatory responses which can potentially be related to certain fetal chromosomal abnormalities. The aim of the study was to determine the concentration of selected chemokines in plasma and amniotic fluid of women with fetal Down syndrome. Method. Out of 171 amniocentesis, we had 7 patients with confirmed fetal Down syndrome (15th–18th weeks of gestation. For the purpose of our control, we chose 14 women without confirmed chromosomal aberration. To assess the concentration of chemokines in the blood plasma and amniotic fluid, we used a protein macroarray, which allows the simultaneous determination of 40 chemokines per sample. Results. We showed significant decrease in the concentration of 4 chemokines, HCC-4, IL-28A, IL-31, and MCP-2, and increase in the concentration of CXCL7 (NAP-2 in plasma of women with fetal Down syndrome. Furthermore, we showed decrease in concentration of 3 chemokines, ITAC, MCP-3, MIF, and increase in concentration of 4 chemokines, IP-10, MPIF-1, CXCL7, and 6Ckine, in amniotic fluid of women with fetal Down syndrome. Conclusion. On the basis of our findings, our hypothesis is that the chemokines may play role in the pathogenesis of Down syndrome. Defining their potential as biochemical markers of Down syndrome requires further investigation on larger group of patients.

  19. Decline in cerebral glucose utilisation and cognitive function with aging in Down's syndrome.

    Science.gov (United States)

    Schapiro, M B; Haxby, J V; Grady, C L; Duara, R; Schlageter, N L; White, B; Moore, A; Sundaram, M; Larson, S M; Rapoport, S I

    1987-06-01

    The cerebral metabolic rate for glucose (CMRglc) was measured with positron emission tomography and [18F]2-fluoro-2-deoxy-D-glucose in 14 healthy subjects with Down's syndrome, 19 to 33 years old, and in six healthy Down's syndrome subjects over 35 years, two of whom were demented. Dementia was diagnosed from a history of mental deterioration, disorientation and hallucinations. All Down's syndrome subjects were trisomy 21 karyotype. CMRglc also was examined in 15 healthy men aged 20-35 years and in 20 healthy men aged 45-64 years. All subjects were at rest with eyes covered and ears plugged. Mean hemispheric CMRglc in the older Down's syndrome subjects was significantly less, by 23%, than in the young Down's syndrome group; statistically significant decreases in regional metabolism (rCMRglc) also were present in all lobar regions. Comparison of the younger control group with the older control group showed no difference in CMRglc or any rCMRglc (p greater than 0.05). Assessment of language, visuospatial ability, attention and memory showed significant reductions in test scores of the old as compared with the young Down's syndrome subjects. These results show that significant age differences in CMRglc and rCMRglc occur in Down's syndrome but not in healthy controls, and that, although only some older Down's syndrome subjects are demented, significant age reductions in neuropsychologic variables occur in all of them.

  20. Demographic differences in Down syndrome livebirths in the US from 1989 to 2006.

    Science.gov (United States)

    Egan, James F X; Smith, Kathleen; Timms, Diane; Bolnick, Jay M; Campbell, Winston A; Benn, Peter A

    2011-04-01

    To explore demographic differences in Down syndrome livebirths in the United States. Using National Center for Health Statistics (NCHS) birth certificate data from 1989 to 2006 we analyzed Down syndrome livebirths after correcting for under-reporting. We created six subsets based on maternal age (15-34 and 35-49 years old); US regions, that is, Northeast, Midwest, South and West; marital status, (married, unmarried); education, ( ≤ 12 years, ≥ 13 years); race, (white, black); and Hispanic ethnicity, (non-Hispanic, Hispanic). We estimated expected Down syndrome livebirths assuming no change in birth certificate reporting. The percentage of expected Down syndrome livebirths actually born was calculated by year. There were 72 613 424 livebirths from 1989 to 2006. There were 122 519 Down syndrome livebirths expected and 65 492 were actually born. The Midwest had the most expected Down syndrome livebirths actually born (67.6%); the West was lowest (44.4%). More expected Down syndrome livebirths were born to women who were 15 to 34 years old (61 vs 43.8%) and to those with ≤ 12 years education (60.4 vs 46.9%), white race (56.6 vs 37%), unmarried (56.0 vs 52.5%), and of Hispanic ethnicity (55.0 vs 53.3%). The percentage of expected Down syndrome livebirths actually born varies by demographics. Copyright © 2011 John Wiley & Sons, Ltd.

  1. Dynamics in prevalence of Down syndrome in children with congenital heart disease.

    Science.gov (United States)

    Pfitzer, Constanze; Helm, Paul C; Rosenthal, Lisa-Maria; Berger, Felix; Bauer, Ulrike M M; Schmitt, Katharina Rl

    2018-01-01

    We assessed the dynamics in the prevalence of children with congenital heart disease (CHD) and Down syndrome in Germany with regard to phenotype, severity, and gender. Data from patients with CHD and Down syndrome born between 1980 and 2014 were analyzed, who are registered with the German National Register for Congenital Heart Defects. One thousand six hundred eighteen CHD patients with Down syndrome were identified. The prevalence of children born with both Down syndrome and CHD was constant from 2005 to 2009 but increased from 2010 to 2014. Regarding CHD groups, complex and simple lesions have become more equal since 2005. The number of simple lesions with shunt has a peak prevalence in the period of 2010-2014. Atrioventricular septal defect was the most common CHD phenotype, but temporal changes were found within the group of CHD phenotypes over the observation period. Our findings suggest a growing number of CHD and Down syndrome, which may be the result of improved medical management and progress in educational, social, and financial support. This development is noteworthy as it adds new aspects to present discussions in the media and political settings. What is known: • Congenital heart disease is regarded to be the most important clinical phenomenon in children with Down syndrome, due to its significant impact on morbidity and mortality. • New developments in prenatal diagnostic and therapy management of congenital heart disease continue to influence the number of patients diagnosed with congenital heart disease and Down syndrome. What is New: • This study provides essential data giving the first overview of the dynamics in the prevalence of congenital heart disease and Down syndrome over an extended length of time up to 2015 in a large patient cohort, taking recent developments into account. • Our data suggest a growing prevalence of congenital heart disease and Down syndrome, which may be the result of improved medical management for Down syndrome

  2. Mother-Child Play: Children with Down Syndrome and Typical Development

    Science.gov (United States)

    Venuti, P.; de Falco, S.; Esposito, G.; Bornstein, Marc H.

    2009-01-01

    Child solitary and collaborative mother-child play with 21 children with Down syndrome and 33 mental-age-matched typically developing children were compared. In solitary play, children with Down syndrome showed less exploratory but similar symbolic play compared to typically developing children. From solitary to collaborative play, children with…

  3. Down Syndrome in Adults: Staying Healthy

    Science.gov (United States)

    ... benefit from a local Down syndrome group or mentor. It helps to see what life is like ... Kids and Teens Pregnancy and Childbirth Women Men Seniors Your Health Resources Healthcare Management End-of-Life ...

  4. Guidelineness of the parameters using integrated test in down syndrome risk prediction

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jin Won [Graduate School of Catholic University of Pusan, Busan (Korea, Republic of); Go, Sung Jin; Kang, Se Sik; Kim, Chang Soo [Dept. Radiological Science, College of Health Sciences, Catholic University of Pusan, Busan (Korea, Republic of)

    2016-12-15

    This study was an evaluation of the significance of each parameter through aimed at pregnant women subjected to screening test(integrated test) in predicting risk of Down syndrome. We retrospectively analysed the correlation of risk of Down's syndrome with Nuchal Translucency(NT) images measured by ultrasound, Pregnancy Associated Plasma Protein A(PAPP-A), alpha-fetoprotein(AFP), unconjugated estriol(uE3), human chorionic gonadotrophin(hCG) and Inhibin A by maternal serum. As a result, a significant correlation with NT, uE3, hCG, Inhibin A is revealed with Down's syndrome risk(P<.001). In ROC analysis, AUC of Inhibin A is analysed as the biggest predictor of Down's syndrome(0.859). And the criterion for cut-off was inhibin A 1.4 MoM(sensitivity 81.8%, specificity 75.9%). In conclusion, Inhibin A was the most useful in parameters to predict Down's syndrome in the integrated test. If we make up for the weakness based on the cut-off value of parameters they will be able to be used as an independent indicator in the risk of Down's syndrome screening.

  5. Discriminating Down Syndrome and Fragile X Syndrome Based on Language Ability

    Science.gov (United States)

    Finestack, Lizbeth H.; Sterling, Audra M.; Abbeduto, Leonard

    2013-01-01

    This study compared the receptive and expressive language profiles of verbally expressive children and adolescents with Down Syndrome (DS) and those with Fragile X syndrome (FXS) and examined the extent to which these profiles reliably differentiate the diagnostic groups. A total of twenty-four verbal participants with DS (mean age: 12 years),…

  6. A review of Down's syndrome studies and ionizing radiation

    International Nuclear Information System (INIS)

    Rose, K.S.B.

    1994-01-01

    This review collates results from 3 high dose (> 0.1 Gy) and 23 low dose epidemiological studies of parental radiation exposure and Down's syndrome incidence. A pattern of consistent results appears in 13 studies of irradiation received by women for diagnostic purposes. The pattern is an increase in Down's syndrome, the increase being approximately equivalent to an ovarian doubling dose of 20 mGy. The value is definitely not compatible with results from the high dose studies. Results from the other 10 low dose studies were used to test this value but most proved to be unsuitable for a variety of reasons. However, no associations between levels of high natural background and Down's syndrome have been observed in either New England or Aberdeen, which are areas in developed countries where reliable statistics ar collected. (author)

  7. Peer-Related Social Competence of Young Children with Down Syndrome

    Science.gov (United States)

    Guralnick, Michael J.; Connor, Robert T.; Johnson, L. Clark

    2011-01-01

    The peer-related social competence of children with Down syndrome was examined in an observational study. Dyadic interactions with peers of children with Down syndrome were compared with the dyadic interactions of matched groups of typically developing children and with playmates differing in both familiarity and social skills. Results suggested…

  8. Depression and Dementia in Aging Adults with Down Syndrome: A Case Study Approach.

    Science.gov (United States)

    Sung, Hyunsook; And Others

    1997-01-01

    A case study of three adults (ages 46-47) with Down syndrome investigated the patterns of symptoms associated with depression and dementia. Characteristics that distinguish between dementia and depression in adults with Down syndrome are described. Periodic comprehensive assessment of adults with Down syndrome to detect functioning changes is…

  9. Investigation on Down's syndrome in the children living in high background radiation area

    International Nuclear Information System (INIS)

    Zha Yongru

    1989-01-01

    After the survey in 1975 and 1979 of Down's syndrome in the children living in high background radiation area, we made a follow-up investigation in 1985 and 1986. All the obtained data are analysed. 25258 children in high background radiation area were examined and 22 children with Down's syndrome were identified, the morbidity rate being 0.87%. 21837 children in control area were examined and four children with Down's syndrome were identified, the morbidity being 0.18%. There was a statistically significant difference between the two groups. It was noted that the occurrence of Down's syndrome was related to the maternal age but there was no evidence suggesting a close relationship between high background radiation and the development of Down's syndrome

  10. Decline in cerebral glucose utilisation and cognitive function with aging in Down's syndrome.

    Science.gov (United States)

    Schapiro, M B; Haxby, J V; Grady, C L; Duara, R; Schlageter, N L; White, B; Moore, A; Sundaram, M; Larson, S M; Rapoport, S I

    1987-01-01

    The cerebral metabolic rate for glucose (CMRglc) was measured with positron emission tomography and [18F]2-fluoro-2-deoxy-D-glucose in 14 healthy subjects with Down's syndrome, 19 to 33 years old, and in six healthy Down's syndrome subjects over 35 years, two of whom were demented. Dementia was diagnosed from a history of mental deterioration, disorientation and hallucinations. All Down's syndrome subjects were trisomy 21 karyotype. CMRglc also was examined in 15 healthy men aged 20-35 years and in 20 healthy men aged 45-64 years. All subjects were at rest with eyes covered and ears plugged. Mean hemispheric CMRglc in the older Down's syndrome subjects was significantly less, by 23%, than in the young Down's syndrome group; statistically significant decreases in regional metabolism (rCMRglc) also were present in all lobar regions. Comparison of the younger control group with the older control group showed no difference in CMRglc or any rCMRglc (p greater than 0.05). Assessment of language, visuospatial ability, attention and memory showed significant reductions in test scores of the old as compared with the young Down's syndrome subjects. These results show that significant age differences in CMRglc and rCMRglc occur in Down's syndrome but not in healthy controls, and that, although only some older Down's syndrome subjects are demented, significant age reductions in neuropsychologic variables occur in all of them. PMID:2956363

  11. Is cardiac surgery warranted in children with Down syndrome? A ...

    African Journals Online (AJOL)

    Objectives. To compare children with Down syndrome and children without Down syndrome and investigate whether there is a significant difference in the burden that is placed on the health care system between these two groups only in respect of the repair of congenital heart disease at Red Cross War Memorial Children's ...

  12. STATUS GIZI DAN STATUS IODIUM PADA BALITA DENGAN SUSPECT DOWN SYNDROME

    Directory of Open Access Journals (Sweden)

    Hastin Dyah K.

    2012-10-01

    Full Text Available Background: Nutritional status is one of the factor that determines the human resources and quality of life. Toddlers are one of vulnerable groups for nutritional problems. One of the nutrition problem in Indonesia is Iodine deficiency disorder. Clinical manifestations are not only endemic goiter and cretins, but also abortion, stillbirth, and congenital abnormalities. Congenital abnormalities are commonly found in areas ofendemic iodine deficiency disorder such as Down Syndrome. Objectives: This study aims to determine the iodine nutrition status of children under jive with Down Syndrome Suspect in endemic areas ofiodine deficiency disorder. Method: This research is descriptive study with cross sectional design. The study was conducted in Magelang district, which is endemic iodine deficiency disorder. Total sample of30 under jive years old with Down Syndrome Suspect. Result: The result showed that the nutritional status of respondents based on the weight/age index was 50% had good nutritional status. According to height/age index as much as 70% are short and very short. Based on weight/height index was 73,3% with normal nutritional status. At least 33% of children with Down Syndrome Suspect accompanied hypothyroidism.  Keywords: Suspect Down Syndrome, Nutritional Status, Iodine Status

  13. Amniotic Fluid Cells Proliferation in Normal and Down Syndrome Subjects

    Directory of Open Access Journals (Sweden)

    Honcea Adina

    2016-02-01

    Full Text Available Down Syndrome/Trisomy 21 is the most common chromosomal anomaly, and it represents the most common congenital cause of infants’ intellectual disability. Subjects with this syndrome are affected by degenerative processes caused by accelerated aging or unknown ethyologies. In recent years, accumulating evidence revealed increased potential of amniotic fluid-derived stem cells to be used in regenerative therapy. Our aim was to assess differences in immunophenotype, cell morphology and proliferation of amniotic fluid cells from normal and Down Syndrome pregnancies using a quantitative cytometry approach. Results revealed the emergence of a population of small sized cells in Down Syndrome derived amniotic fluid cells that are readily visible upon microscopic inspection. Hence, the fluorescence–based quantitative image cytometry determinations showed a tendency of decrease in both cell and nuclei size in trisomy, with no significant modification in nuclei circularity, as measured following actin cytoskeleton and nuclei labeling. The propensity of Ki67 positive cells was found to be increased in Down Syndrome derived cells (48.92% as compared to normal specimens (28.68%. However, cells in S and G2/M cell cycle phases decreased from 32.91% to 4.49% in diseased cells. Further studies are devoted to understanding the molecular basis of the observed differences in the proliferation ability of Down Syndrome amniotic cells, in order to evaluate the potential therapeutic effect of amniotic fluid stem cells for tissue regeneration in subjects with trisomy and to find correlations between amniotic cells phenotype and patient prognosis.

  14. Cephalometrics in children with Down's syndrome

    International Nuclear Information System (INIS)

    Quintanilla, Juan Suarez; Biedma, Benjamin Martin; Rodriguez, Maximino Quintans; Mora, Maria Teresa Jorge; Cunqueiro, Maria Mercedes Suarez; Pazos, Mayte Abeleira

    2002-01-01

    Heading AbstractAims. To describe the craniofacial morphology of a group of patients with Down's syndrome using a cephalometric analysis of the lateral skull radiograph.Materials and methods. The studied sample consisted of 39 patients with Down's syndrome (24 boys, 15 girls) ranging from 7 to 18 years of age. The computerized cephalometric study of the lateral skull radiograph of each patient was carried out using the method described by Ricketts.Results.Anterior cross-bite was observed in 38.4% of patients and diminished interincisal angle in 77%. Skeletal parameters matched the clinical norm, indicating mesofacial biotype, i.e., normal maxillomandibular growth. The lower incisors protruded in 84.6% of the individuals studied and were proinclined in 77%; upper incisors were protruded in 77% of the sample. The lower lip protruded in 84.6%. Analysis of craniofacial parameters showed average values within the clinical norm. Analysis of the inner cranium demonstrated normal inclination of the cranial base, while the length of the anterior skull base was diminished in 53.8%.Conclusions. From the skeletal perspective, patients with Down's syndrome who are in a period of growth demonstrate a reduction of the anterior skull base. From the dentoalveolar perspective, they show protrusion and proinclination of lower incisors, which is related to a tendency to anterior cross-bite and, to a lesser extent, to diminished overbite. Likewise, the lower lip protrusion observed in this study is related to the position of the lower incisor. (orig.)

  15. Psychiatric Symptoms in Adults with Down Syndrome and Alzheimer's Disease

    Science.gov (United States)

    Urv, Tiina K.; Zigman, Warren B.; Silverman, Wayne

    2010-01-01

    Changes in psychiatric symptoms related to specific stages of dementia were investigated in 224 adults 45 years of age or older with Down syndrome. Findings indicate that psychiatric symptoms are a prevalent feature of dementia in the population with Down syndrome and that clinical presentation is qualitatively similar to that seen in Alzheimer's…

  16. INCIDENCE OF STUTTERING IN SCHOOL-AGE CHILDREN WITH DOWN SYNDROME

    Directory of Open Access Journals (Sweden)

    Nevzeta SALIHOVIĆ

    2012-03-01

    Full Text Available The main purpose of this study was to examine the incidence (frequency and stuttering severity in the school-age children with Down syndrome. The sample was consisted of 37 school-age children with Down syndrome, both male and female. The study was conducted in the following institutions: Institute of Special Education and Rehabilitation for Children with Intellectual Disabilities "Mjedenica"; Centre for Education, Training and Employment of Mentally Retarded Children, Children with Autism and Cerebral palsy "Vladimir Nazor" in Sarajevo; Primary School of Special Education „Zenica“; Primary school "Kovačići" Sarajevo; "Association of United Civic Actions – DUGA" in Sarajevo; and The Association "Be my friend" in Ilijaš. All of the subjects were individually examined. The results showed that 13,51 % of the children with Down syndrome stuttered, and the total result of stuttering severity indicates a moderate stuttering. These results show that children with Down syndrome should be enrolled intensively in speech therapy in order to help them overcome their stuttering, to facilitate their everyday communication and to teach them how to cope with stuttering.

  17. Problems with the language development in children with Down syndrome aged 5-7 years

    Directory of Open Access Journals (Sweden)

    Mustaf Morina

    2016-07-01

    Full Text Available This study aims to explore and investigate the linguistic developments regarding children with Down syndrome. The study was conducted by interviewing children with Down syndrome. The study shows many problems with these children associated with difficulties with the reasoning attention, imitation, routines, and language development of children with Down syndrome, such as, speech problem, a problem related to pronunciation, sound or voice. This study uses the (Inductive and Qualitative primary research (deductive method with six case studies of children with Down syndrome, being induced on the Problems and difficulties of children with the Down syndrome in the field of language development.

  18. Bone mineral density in children with Down's syndrome detected by dual photon absorptiometry

    International Nuclear Information System (INIS)

    Kao, C.H.; Chen, C.C.; Wang, S.J.; Yeh, S.H.

    1992-01-01

    Bone mineral density (BMD) in ten children with Down's syndrome (seven boys, three girls; aged 10-16 years) was measured by dual photon absorptiometry (DPA) using an M and SE Osteo Tech 300 scanner. The BMD of the 2nd to 4th lumbar vertebrae was measured and the mean density presented as g cm -2 . The BMD of Down's syndrome was compared with the BMD of normal Chinese children of the same age group. The results showed that the BMD in Down's syndrome was significantly lower compared to that found in normal children. The percentage of decreased BMD is 8.47 ± 2.69% (mean ± 1 S.E.M.) in Down's syndrome compared to normal children of the same age group. The distribution curve of BMD against ages in Down's syndrome has a delay of 2.3 ± 0.5 (mean ± 1 S.E.M.) years compared to normal children. In our conclusion, the children with Down's syndrome have lower BMD than the normal children of the same age group. (Author)

  19. Personalized medicine for individuals with Down syndrome.

    Science.gov (United States)

    McCabe, Linda L; McCabe, Edward R B

    2011-01-01

    As the cost of whole genome analysis decreases, we have the opportunity to explore the interactions of various gene changes in an individual that lead to their particular phenotype. This will provide the ability to move from the epidemiologic study of groups, in which, the individuals are treated collectively and homogenously, to personalized medicine, and a model in which the individual is recognized and treated as a distinct entity. We will be applying personalized medicine to individuals with Down syndrome in order to understand and develop biomarkers for increased risk of co-morbidities. Personalized medicine will change the "culture of intractability" of Down syndrome. Copyright © 2011 Elsevier Inc. All rights reserved.

  20. Cross Syndrome Comparison of Sleep Problems in Children with Down Syndrome and Williams Syndrome

    Science.gov (United States)

    Ashworth, Anna; Hill, Catherine M.; Karmiloff-Smith, Annette; Dimitriou, Dagmara

    2013-01-01

    Based on previous findings of frequent sleep problems in children with Down syndrome (DS) and Williams syndrome (WS), the present study aimed to expand our knowledge by using parent report and actigraphy to define sleep problems more precisely in these groups. Twenty-two school-aged children with DS, 24 with WS and 52 typically developing (TD)…

  1. Diagnostic test for prenatal identification of Down's syndrome and mental retardation and gene therapy therefor

    Science.gov (United States)

    Smith, Desmond J.; Rubin, Edward M.

    2000-01-01

    A a diagnostic test useful for prenatal identification of Down syndrome and mental retardation. A method for gene therapy for correction and treatment of Down syndrome. DYRK gene involved in the ability to learn. A method for diagnosing Down's syndrome and mental retardation and an assay therefor. A pharmaceutical composition for treatment of Down's syndrome mental retardation.

  2. Demens hos personer med Downs syndrom

    DEFF Research Database (Denmark)

    Salem, Lise Cronberg; Jørgensen, Kasper

    2014-01-01

    In developed countries the population of elderly people with Down syndrome expands resulting in an increasing incidence of age-related diseases, including dementia. The assessment of dementia in individuals with intellectual disability is often complicated due to large intra-individual variability...

  3. Children with Down Syndrome: Life Stories of Parents

    Directory of Open Access Journals (Sweden)

    Maritza Esquivel-Herrera

    2015-01-01

    Full Text Available This paper is based on the premise that early stimulation is the appropriate program to start the integral care and education of newborns with Down Syndrome, with the primary objective being to optimize their cognitive, physical and socio-emotional capabilities. For this purpose, a naturalist paradigm and a descriptive case type approach were used, mainly with qualitative data related to the life stories of parents with Down Syndrome children. Parents (9 mothers and one father participated voluntarily in the research project. One of the instruments used was the compilation of life histories, which were collected though interviews to parents and were systematized in the form of chronicles.  Another instrument was phrases or sentences to fill in the blanks, which were used to know the deepest impressions experienced by parents before and after the birth of their Down Syndrome child.  This paper is intended to provide support to those who experience daily situations similar to the ones mentioned here and, particularly to impact on the time management in the integral development of children with this condition.

  4. Incidence and outcome of renal anomalies in children with down syndrome

    Directory of Open Access Journals (Sweden)

    Osama Y Safdar

    2018-01-01

    Full Text Available Background Down syndrome is one of the most common occurring chromosomal disorders, which involves multiple systems. Renal and urinary tract anomalies have been reported to occur at increased frequency among this population. Aims This study aims to estimate the prevalence of renal anomalies in Down syndrome patients, as well as to evaluate their outcome. Methods A retrospective study was conducted in the tertiary hospital, KAUH, from the period of August to October 2016. Files and medical records of 261 patients diagnosed with Down syndrome were reviewed and retrieved from the years 2005–2016. Results Out of the 241 patients, 113 (46.9 per cent were screened by ultrasound imaging. Renal abnormalities were detected in 51 (21.2 per cent patients. Of whom 20 (39.2 per cent were females and 31 (60.8 per cent males. Abnormalities detected on imaging consisted of: hydronephrosis, vesicoureteral reflux, obstruction, malpositioned kidney, renovascular anomalies and others. The outcomes of the patients with renal involvement were as following: five patients (9.8 per cent developed chronic kidney disease, eight (15.7 per cent died due to different causes: (DIC, multiple organ failure, Respiratory arrest, sepsis, and unspecified, and 38 (74.5 per cent showed no progression of the renal disease. Conclusion The prevalence of renal abnormalities in Down syndrome was found to be high so early screening for Down syndrome patients is recommended to help diagnose them earlier. Further studies are recommended to follow up Down syndrome patients with renal abnormalities.

  5. Divorce in families of children with Down syndrome: a population-based study.

    Science.gov (United States)

    Urbano, Richard C; Hodapp, Robert M

    2007-07-01

    In this study, we examined the nature, timing, and correlates of divorce in families of children with Down syndrome (647), other birth defects (10,283) and no identified disability (361,154). Divorce rates among families of children with Down syndrome were lower than in the other two groups. When divorce did occur in the Down syndrome group, however, a higher proportion occurred within the first 2 years after the child's birth. Mothers and fathers of children with Down syndrome were much more likely to divorce if they were younger, had not graduated from high school, and if fathers were less educated and lived in a rural area. Few effects on divorce were noted for a variety of family structure variables.

  6. Information about prenatal screening for Down syndrome: ethnic differences in knowledge

    NARCIS (Netherlands)

    Fransen, Mirjam P.; Wildschut, Hajo; Vogel, Ineke; Mackenbach, Johan; Steegers, Eric; Essink-Bot, Marie-Louise

    2009-01-01

    To evaluate the provision of information about prenatal screening for Down syndrome to women of Dutch, Turkish and Surinamese origins, and to examine the effects of this provision on ethnic differences in knowledge about Down syndrome and prenatal screening. The study population consisted of 105

  7. Stiffness of the large arteries in individuals with and without Down syndrome

    Directory of Open Access Journals (Sweden)

    Nunes Rodrigues A

    2011-06-01

    Full Text Available Anabel N Rodrigues1,2, Luan Cesar Coelho1, Washington LS Goncalves1,2, Sonia Alves Gouvea2, Maria José Rossi Vasconcellos1, Roberto S Cunha2, Glaucia R Abreu21School of Medicine, University Center of Espírito Santo, Colatina; 2Postgraduate Program in Physiological Sciences, Center for Health Sciences, Federal University of Espirito Santo, Vitória, BrazilBackground: Down syndrome is known to cause premature aging in several organ systems. However, it remains unclear whether this aging effect also affects the structure and function of the large arterial trunks. In this controlled study, the possibility of changes in the large arteries due to aging was evaluated in patients with Down syndrome.Methods: Eighty-two subjects of both genders were selected. The Down syndrome group had 41 active subjects consisting of 19 males and 22 females (mean age 21 ± 1, range 13–42 years without cardiovascular complications and who did not use vasoactive drugs. The control group consisted of 41 healthy individuals without trisomy 21 of the same gender and age as the Down syndrome group and who did not use vasoactive medication. Carotid–femoral pulse wave velocity was obtained as an index of aortic stiffness using an automatic noninvasive method.Results: Individuals with Down syndrome had significantly lower blood pressure than those in the control group. Systolic blood pressure for the Down syndrome group and control group was 106 ± 2 mmHg vs 117 ± 2 mmHg (P < 0.001, respectively; diastolic blood pressure was 66 ± 2 mmHg vs 77 ± 2 mmHg (P <0.001; and mean arterial pressure was 80 ± 1 mmHg vs 90 ± 1 mmHg (P < 0.001. Only age and systolic blood pressure were shown to correlate significantly with pulse wave velocity, but the slopes of the linear regression curves of these two variables showed no significant difference between the two study groups. Pulse wave velocity, which was initially significantly lower in the Down syndrome group (7.51 ± 0.14 m/s vs

  8. Combined first- and second-trimester screening for Down syndrome

    DEFF Research Database (Denmark)

    Rode, Line; Wøjdemann, Karen R; Shalmi, Anne-Cathrine

    2003-01-01

    and their correlations, derived from our normal material and Down syndrome cases from the literature. RESULTS: Using a fixed screen-positive rate (SPR) of 5%, the first-trimester combined test [nuchal translucency (NT), PAPP-A and free beta-hCG] yielded a detection rate (DR) of 76%, and the integrated test (NT, PAPP......%. CONCLUSION: These results suggest that proMBP may be an important new marker in Down syndrome screening and, in particular, a good substitute for inhibin A....

  9. Down Syndrome and the aging process: a systematic review

    Directory of Open Access Journals (Sweden)

    Bruno Sousa Lopes

    2015-05-01

    Full Text Available The study aimed to identify and update the knowledge about older people with Down Syndrome (DS, and to understand the peculiarities of the aging process in this population. Bibliographical research conducted by Portal de Periódicos da Coordenação de Aperfeiçoamento de Pessoal de Nível Superior and High Wire portal. Inclusion criteria were articles published in the last ten years with the words “Down Syndrome" and “Elderly”.  

  10. Antígeno da hepatite B na síndrome de Down Hepatitis B antigen in Down's syndrome

    Directory of Open Access Journals (Sweden)

    Roberto de Almeida Moura

    1974-12-01

    Full Text Available Os autores demonstraram a ausência de HBAg no soro de 30 pacientes com síndrome de Down tratados em ambulatório (idades de 2 a 16 anos, bem como em 28 irmãos e em 19 de suas mães. Após discutir o antigo conceito que relacionava a síndrome de Down com HBAg, os autores confirmam a observação de que em pacientes com síndrome de Down, não hospitalizados, a incidência de HBAg é semelhante à da população geral.The authors have shown the absence of HBAg in the blood of 30 patients with Down's syndrome treated in ambulatory conditions (age from 2 to 16 years, as well as in 28 brothers or sisters and in 19 of their mothers. After discussing the old concept of relationship between Down's syndrome and HBAg, the authors confirmed the observation that in non-institucionalized patients with the Down's syndrome, the incidence of HBAg is similar to the whole population.

  11. First Trimester Down's syndrome screening - pregnant women's knowledge

    DEFF Research Database (Denmark)

    Dahl, Katja; Hvidman, Lone; Jørgensen, Finn Stener

    2011-01-01

    OBJECTIVES: The primary aim of this study was to assess pregnant women's knowledge of first trimester combined Down's syndrome screening in a setting of required informed consent. Secondary, we wanted to identify relevant differences in knowledge level among subgroups of pregnant women, including...... of adverse findings other than Down's syndrome. Knowledge level was positively associated with length of education (adjusted ORs 1.0 (0.8-1.4) to 3.9 (2.4-6.4)) and participation in the screening programme (adjusted OR 0.9 (0.6-1.3) to 5.9 (3.9-8.8)). Participation in an individual information session...

  12. First trimester Down's syndrome screening - pregnant women's knowledge

    DEFF Research Database (Denmark)

    Dahl, Katja; Hvidman, Lone; Jørgensen, Finn Stener

    2011-01-01

    OBJECTIVES: The primary aim of this study was to assess pregnant women's knowledge of first trimester combined Down's syndrome screening in a setting of required informed consent. Secondary, we wanted to identify relevant differences in knowledge level among subgroups of pregnant women, including...... of adverse findings other than Down's syndrome. Knowledge level was positively associated with length of education (adjusted ORs 1.0 (0.8-1.4) to 3.9 (2.4-6.4)) and participation in the screening programme (adjusted OR 0.9 (0.6-1.3) to 5.9 (3.9-8.8)). Participation in an individual information session...

  13. Score of Fine Motor Skill in Children with Down Syndrome using Nintendo Wii

    Directory of Open Access Journals (Sweden)

    Puspasari Sinaga

    2016-09-01

    Full Text Available Background: Down syndrome occurs due to an extra chromosome 21, known as Trisomy 21. In addition to delayed cognitive and speech development, children with Down syndrome may also experience delayed gross and fine motor development. Virtual Reality Therapy, such as Nintendo Wii is a computer-based technology that allows users to interact with a virtual three-dimensional scenario and the most innovative physical rehabilitation method. High scores indicate that the player has a good motor skill. This study aimed to examine the difference between the score of fine motor skill in children with and without Down syndrome. Methods: An analytic cross-sectional study was conducted from August to November 2015 to 40 children aged between 9–12 years old who came from public primary schools and special needs schools in Bandung, West Java. They were divided into 2 groups using random gender and age pairing; one group was children with Down syndrome and another other group was normal children. The children’ scores of Nintendo Wii game were collected three times. The collected data were statistically analyzed by Chi-Square test. Results: The proportion of children with low-grade fine motor skill in Down syndrome group was larger than those with high-grade fine motor skill. In the other hand, in normal children group, the proportion was reversed compared to Down syndrome group. There was a significant difference in score of fine motor skill between children with Down syndrome and normal children (p=0.000. Conclusions: The fine motor skill of children with Down syndrome is poorer than normal children’s.

  14. Long-term memory for verbal and visual information in Down syndrome and Williams syndrome: performance on the Doors and People test.

    Science.gov (United States)

    Jarrold, Christopher; Baddeley, Alan D; Phillips, Caroline

    2007-02-01

    Previous studies have suggested that Williams syndrome and Down syndrome may be associated with specific short-term memory deficits. Individuals with Williams syndrome perform relatively poorly on tests of visuo-spatial short-term memory and individuals with Down syndrome show a relative deficit on verbal short-term memory tasks. However, these patterns of impairments may reflect the impact of generally impaired visuo-spatial processing skills in Williams syndrome, and verbal abilities in Down syndrome. The current study explored this possibility by assessing long-term memory among 15 individuals with Williams syndrome and 20 individuals with Down syndrome using the Doors and People test, a battery which assesses recall and recognition of verbal and visual information. Individuals' performance was standardised for age and level of intellectual ability with reference to that shown by a sample of 110 typically developing children. The results showed that individuals with Down syndrome have no differential deficits in long-term memory for verbal information, implying that verbal short-term memory deficits in this population are relatively selective. Instead both individuals with Down syndrome and with Williams syndrome showed some evidence of relatively poor performance on tests of long-term memory for visual information. It is therefore possible that visuo-spatial short-term memory deficits that have previously been demonstrated in Williams syndrome may be secondary to more general problems in visuo-spatial processing in this population.

  15. Quality of life of parents with Down syndrome children

    Directory of Open Access Journals (Sweden)

    Leandro Loureiro Buzatto

    2008-09-01

    Full Text Available Objectives: The purpose of this study was to investigate the social and demographic features and quality of life of parents that have children with Down syndrome, and to verify the influence that the care of these children has on the quality of life of their parents. Methods: This was an investigative and descriptive study that included a sample of 30 parents that have children with Down syndrome who were registered in the APAE Sao Paulo and APAE Barueri. A questionnaire elaborated by the authors and the Quality of Life Scale (WHOQOL-BREF questionnaire were applied. Rresults: In the sample of 30 parents of children with Down syndrome, 80% were female. The age ranged from 28 to 49 years, mean of 37 years. The quality of life was described as “good” by 60% of the sample. The following WOHQOL-BREF scores were found: social (80.72; physical (73.36; environmental (69.74; and psychological (60.28. There were 12 responses about the influence of the care of Down syndrome children on quality of life, of which 58.3% reported major involvement with the education and care of the children, which resulted in satisfaction. Cconclusion: The psychological domain had the lowest score in the quality of life evaluation, suggesting that parents need to be offered psychological support.

  16. Short-term memory in Down syndrome: applying the working memory model.

    Science.gov (United States)

    Jarrold, C; Baddeley, A D

    2001-10-01

    This paper is divided into three sections. The first reviews the evidence for a verbal short-term memory deficit in Down syndrome. Existing research suggests that short-term memory for verbal information tends to be impaired in Down syndrome, in contrast to short-term memory for visual and spatial material. In addition, problems of hearing or speech do not appear to be a major cause of difficulties on tests of verbal short-term memory. This suggests that Down syndrome is associated with a specific memory problem, which we link to a potential deficit in the functioning of the 'phonological loop' of Baddeley's (1986) model of working memory. The second section considers the implications of a phonological loop problem. Because a reasonable amount is known about the normal functioning of the phonological loop, and of its role in language acquisition in typical development, we can make firm predictions as to the likely nature of the short-term memory problem in Down syndrome, and its consequences for language learning. However, we note that the existing evidence from studies with individuals with Down syndrome does not fit well with these predictions. This leads to the third section of the paper, in which we consider key questions to be addressed in future research. We suggest that there are two questions to be answered, which follow directly from the contradictory results outlined in the previous section. These are 'What is the precise nature of the verbal short-term memory deficit in Down syndrome', and 'What are the consequences of this deficit for learning'. We discuss ways in which these questions might be addressed in future work.

  17. Down syndrome screening methods in Iranian pregnant women

    Directory of Open Access Journals (Sweden)

    Azizeh Farshbaf Khalili

    2012-08-01

    Full Text Available Introduction: Down syndrome is one of the most prevalent genetic diseases. Screening methods for this syndrome are easy and safe and are recommended to all pregnant wom-en particularly mothers over 35 years of age. This study aimed to review the status of Down syndrome screening and related factors in Iranian pregnant women. Methods: This descriptive analytical study was carried out in 2011. It included 400 women who were randomly selected from those referring to Alzahra Hospital (Tabriz, Iran during their third trimester of pregnancy. Data was collected through a question-naire whose reliability and validity have been approved. The data was analyzed by chi-square test in SPSS13. Results: The results showed that while 28 and 26 women imple-mented screening tests during the first and second trimesters, respectively, only 5 sub-jects benefited from both (integrated test. Chi-square test showed significant correla-tions between the implementation of screening methods and age, education level, in-come, and the location of prenatal care (p < 0.05. Conclusion: The findings of the present study showed women to poorly implement Down syndrome screening methods. Therefore, the necessity of providing appropriate educational programs for health staff and mothers seems undeniable. Moreover, paying attention to the related factors such as income, educational level, and adequate training of mothers during pregnancy is essential.

  18. Radioresistant DNA synthesis in fibroblasts of a patient with Down's syndrome

    International Nuclear Information System (INIS)

    Barenfel'd, L.S.; Bil'din, V.N.; Pleskach, N.M.; Prokof'eva, V.V.

    1985-01-01

    Ionizing radiation effect on DNA replication on fibroblasts of a healthy donor and a patient with Down's syndrome either by direct 3 H-thymidine inclusion into DNA, or by analysis of the sizes of daughter DNA moleculs at the state of stable distribution in acid saccharose, gradients was studied. Gamma-radiation doses (5-10 Gy) suppressing DNA synthesis in normal fibroblasts practically had no effect on DNA synthesisin fibroblasts of a patient with Down's syndrome. Radioresistant DNA synthesis in Down's syndrome is conditioned by a far less supression of replicon initiation as compared with the one in normal cells. So, it is stated that in Down's disease there is no delay in DNA synthesis by ionizing radiation that enables the normal cells to repair DNA damages before replication renewal

  19. Face Processing and Facial Emotion Recognition in Adults with Down Syndrome

    Science.gov (United States)

    Barisnikov, Koviljka; Hippolyte, Loyse; Van der Linden, Martial

    2008-01-01

    Face processing and facial expression recognition was investigated in 17 adults with Down syndrome, and results were compared with those of a child control group matched for receptive vocabulary. On the tasks involving faces without emotional content, the adults with Down syndrome performed significantly worse than did the controls. However, their…

  20. Speech Intelligibility and Childhood Verbal Apraxia in Children with Down Syndrome

    Science.gov (United States)

    Kumin, Libby

    2006-01-01

    Many children with Down syndrome have difficulty with speech intelligibility. The present study used a parent survey to learn more about a specific factor that affects speech intelligibility, i.e. childhood verbal apraxia. One of the factors that affects speech intelligibility for children with Down syndrome is difficulty with voluntarily…

  1. Tardive or Atypical Tourette's Disorder in a Population with Down Syndrome?

    Science.gov (United States)

    Myers, Beverly; Pueschel, Siegfried M.

    1995-01-01

    In a population of 425 individuals with Down's syndrome, 5 persons (1.2%) were identified as having Tourette's disorder. The lack of interrelationship between Down's syndrome and Tourette's disorder argues against an atypical Tourette's disorder. Diagnoses of tardive Tourette's disorder were based on absence of family history of Tourette's, late…

  2. Years of life lost through Down's syndrome.

    Science.gov (United States)

    Jones, M B

    1979-10-01

    A congenital genetic condition does not act either as a cause of death or at the time of death only. Hence, years of life lost through such a conditon cannot be calculated in the same way as for a conventional cause of death. The main difference is that a cause of death acting at age x cuts off as many years of life as the dead person might otherwise have expected to live (life expectancy at age x), whereas a congenital genetic condition exposes an affected person to a different schedule of life-threatening risks from birth onwards. In the latter case, years of life lost is calculated as the difference in life expectancy at birth for affected and non-affected persons. This reasoning is worked out in algebraic form and then applied to Down's syndrome. The data base is provided by two large and recent studies, one in Massachusetts and the other in Denmark, of mortality rates among all cases of Down's syndrome, whether in an institution or not, born during a given period of years or living at a given point in time in a fixed geographical area. So calculated, years of life lost through Down's syndrome relative to the United States general population in 1970 was 53.6 years per 1000 livebirths. Prenatal mortality is also discussed.

  3. [Foetal therapy for Down syndrome: a pro-active ethical reflection].

    Science.gov (United States)

    de Wert, G M W R; Dondorp, W J

    2016-01-01

    Prenatal screening for Down syndrome has to date focused on facilitating the informed choice to continue or not with a pregnancy. The non-invasive prenatal test (NIPT) for Down syndrome does potentially offer the option to apply foetal neurocognitive therapy for Down syndrome (FTDS). Current research in animal models looks promising and therefore a proactive ethical reflection in relation to clinical trials is urgently needed. This discussion includes an exploration of the ethical aspects of FTDS. There seem to be no convincing a priori objections on the basis of the social model of disability. Arguments in terms of (respect for) autonomy, wellbeing and justice seem to in principle support such therapy. Still, both the conditions for sound clinical trials and the implications of possible effective therapy for current prenatal screening need further scrutiny.

  4. Screening athletes with Down syndrome for ocular disease.

    Science.gov (United States)

    Gutstein, Walter; Sinclair, Stephen H; North, Rachel V; Bekiroglu, N

    2010-02-01

    Persons with Down syndrome are well known to have a high prevalence of vision and eye health problems, many of which are undetected or untreated primarily because of infrequent ocular examinations. Public screening programs, directed toward the pediatric population, have become more popular and commonly use letter or symbol charts. This study compares 2 vision screening methods, the Lea Symbol chart and a newly developed interactive computer program, the Vimetrics Central Vision Analyzer (CVA), in their ability to identify ocular disease in the Down syndrome population. Athletes with Down syndrome participating in the European Special Olympics underwent an ocular screening including history, auto-refraction, colour vision assessment, stereopsis assessment, motility assessment, pupil reactivity, and tonometry testing, as well as anterior segment and fundus examinations to evaluate for ocular disease. Visual acuity was tested with the Lea chart and CVA to evaluate these as screening tests for detecting ocular disease as well as significant, uncorrected refractive errors. Among the 91 athletes that presented to the screening, 79 (158 eyes) were sufficiently cooperative for the examination to be completed. Mean age was 26 years +/-10.8 SD. Significant, uncorrected refractive errors (>/=1.00 spherical equivalent) were detected in 28 (18%) eyes and ocular pathology in 51 (32%) eyes. The Lea chart sensitivity and specificity were 43% and 74%, respectively, for detecting ocular pathology and 58% and 100% for detecting uncorrected refractive errors. The CVA sensitivity and specificity were 70% and 86% for detecting pathology and 71% and 100% for detecting uncorrected refractive errors. This study confirmed the findings of prior studies in identifying a significant presence of uncorrected refractive errors and ocular pathology in the Down syndrome population. Screening with the Lea symbol chart found borderline sufficient sensitivity and specificity for the test to be used

  5. Earlier Pulmonary Valve Replacement in Down Syndrome Patients Following Tetralogy of Fallot Repair.

    Science.gov (United States)

    Sullivan, Rachel T; Frommelt, Peter C; Hill, Garick D

    2017-08-01

    The association between Down syndrome and pulmonary hypertension could contribute to more severe pulmonary regurgitation after tetralogy of Fallot repair and possibly earlier pulmonary valve replacement. We compared cardiac magnetic resonance measures of pulmonary regurgitation and right ventricular dilation as well as timing of pulmonary valve replacement between those with and without Down syndrome after tetralogy of Fallot repair. Review of our surgical database from 2000 to 2015 identified patients with tetralogy of Fallot with pulmonary stenosis. Those with Down syndrome were compared to those without. The primary outcome of interest was time from repair to pulmonary valve replacement. Secondary outcomes included pulmonary regurgitation and indexed right ventricular volume on cardiac magnetic resonance imaging. The cohort of 284 patients included 35 (12%) with Down syndrome. Transannular patch repair was performed in 210 (74%). Down syndrome showed greater degree of pulmonary regurgitation (55 ± 14 vs. 37 ± 16%, p = 0.01) without a significantly greater rate of right ventricular dilation (p = 0.09). In multivariable analysis, Down syndrome (HR 2.3, 95% CI 1.2-4.5, p = 0.02) and transannular patch repair (HR 5.5, 95% CI 1.7-17.6, p = 0.004) were significant risk factors for valve replacement. Those with Down syndrome had significantly lower freedom from valve replacement (p = 0.03). Down syndrome is associated with an increased degree of pulmonary regurgitation and earlier pulmonary valve replacement after tetralogy of Fallot repair. These patients require earlier assessment by cardiac magnetic resonance imaging to determine timing of pulmonary valve replacement and evaluation for and treatment of preventable causes of pulmonary hypertension.

  6. Efficacy and safety of oral sildenafil in children with Down syndrome and pulmonary hypertension.

    Science.gov (United States)

    Beghetti, Maurice; Rudzinski, Andrzej; Zhang, Min

    2017-07-04

    Despite the increased risk for pulmonary hypertension in children with Down syndrome, the response to treatment with targeted therapies for pulmonary hypertension in these patients is not well characterized. The Sildenafil in Treatment-naive children, Aged 1-17 years, with pulmonary arterial hypertension (STARTS-1) trial was a dose-ranging study of the short-term efficacy and safety of oral sildenafil in children with pulmonary arterial hypertension. We assessed the safety and efficacy of oral sildenafil in children with Down syndrome and pulmonary arterial hypertension. This was a post-hoc analysis of children with Down syndrome and pulmonary arterial hypertension enrolled in the STARTS-1 trial. Mean pulmonary arterial pressure (mPAP), pulmonary vascular resistance index (PVRI), and cardiac index (CI) were assessed at baseline and following 16 weeks of treatment with sildenafil. Of 234 patients randomized and treated in the STARTS-1 trial, 48 (20.5%) had Down syndrome. Although sildenafil produced dose-related reductions in PVRI and mPAP, compared with placebo, in non-Down syndrome patients and children developmentally able to exercise, this was not satisfactorily marked in patients with Down syndrome. The dose-related reductions in PVRI, compared with placebo, occurred in all subgroups, with the exception of the Down syndrome subgroup. Sildenafil appeared to be well tolerated in the Down syndrome subpopulation and the most frequently reported AEs were similar to those reported for the entire STARTS-1 population. Sildenafil treatment for 16 weeks had no effect on PVRI or mPAP in children with Down syndrome and pulmonary arterial hypertension. The results suggest that children with Down syndrome may be less responsive to sildenafil for pulmonary arterial hypertension, but the incomplete work-up for the etiology of pulmonary arterial hypertension may have introduced a potential bias. Study received, September 8, 2005 (retrospectively registered); Study start

  7. Sleep disorders and their clinical significance in children with Down syndrome.

    Science.gov (United States)

    Stores, Gregory; Stores, Rebecca

    2013-02-01

    Our aim was to review basic aspects of sleep disorders in children with Down syndrome in the light of present-day findings of such disorders in children in general, including other groups of children with developmental disabilities. A literature search of adverse developmental effects of sleep disturbance, types of sleep disturbance in children with Down syndrome, their aetiology, including possible contributions of physical and psychiatric comorbidities and medication effects, principles of assessment and diagnosis, and treatment issues, was carried out. Sleep disturbance is particularly common in children with developmental disorders including Down syndrome. Although there are just three basic sleep problems (sleeplessness or insomnia, excessive daytime sleepiness, and parasomnias) there are many possible underlying causes (sleep disorders), the nature of which dictates the particular treatment required. In children with Down syndrome, in addition to the same influences in other children, various comorbid physical and psychiatric conditions are capable of disturbing sleep. Possible adverse medication effects also need to be considered. Screening for sleep disorders and their causes should be routine; positive findings call for detailed diagnosis. Management should acknowledge the likely multifactorial aetiology of the sleep disorders in Down syndrome. Successful treatment can be expected to alleviate significantly the difficulties of both child and family. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

  8. Down syndrome: national conference on patient registries, research databases, and biobanks.

    Science.gov (United States)

    Oster-Granite, Mary Lou; Parisi, Melissa A; Abbeduto, Leonard; Berlin, Dorit S; Bodine, Cathy; Bynum, Dana; Capone, George; Collier, Elaine; Hall, Dan; Kaeser, Lisa; Kaufmann, Petra; Krischer, Jeffrey; Livingston, Michelle; McCabe, Linda L; Pace, Jill; Pfenninger, Karl; Rasmussen, Sonja A; Reeves, Roger H; Rubinstein, Yaffa; Sherman, Stephanie; Terry, Sharon F; Whitten, Michelle Sie; Williams, Stephen; McCabe, Edward R B; Maddox, Yvonne T

    2011-01-01

    A December 2010 meeting, "Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks," was jointly sponsored by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the National Institutes of Health (NIH) in Bethesda, MD, and the Global Down Syndrome Foundation (GDSF)/Linda Crnic Institute for Down Syndrome based in Denver, CO. Approximately 70 attendees and organizers from various advocacy groups, federal agencies (Centers for Disease Control and Prevention, and various NIH Institutes, Centers, and Offices), members of industry, clinicians, and researchers from various academic institutions were greeted by Drs. Yvonne Maddox, Deputy Director of NICHD, and Edward McCabe, Executive Director of the Linda Crnic Institute for Down Syndrome. They charged the participants to focus on the separate issues of contact registries, research databases, and biobanks through both podium presentations and breakout session discussions. Among the breakout groups for each of the major sessions, participants were asked to generate responses to questions posed by the organizers concerning these three research resources as they related to Down syndrome and then to report back to the group at large with a summary of their discussions. This report represents a synthesis of the discussions and suggested approaches formulated by the group as a whole. Copyright © 2011. Published by Elsevier Inc. All rights reserved.

  9. Nuchal translucency beyond Down syndrome screening

    NARCIS (Netherlands)

    Timmerman, E.

    2013-01-01

    Nuchal translucency (NT) goes far beyond Down syndrome screening. An enlarged NT is associated with a wide range of structural and genetic anomalies. A detailed first trimester scan is an important step in screening for those anomalies and in individual risk assessment. All pregnant women should be

  10. Differences in Social Motivation in Children with Smith-Magenis Syndrome and Down Syndrome

    Science.gov (United States)

    Wilde, Lucy; Mitchell, Anna; Oliver, Chris

    2016-01-01

    Social excesses, characterised by heightened social motivation, are important for describing social functioning. Smith-Magenis syndrome (SMS) is a potential exemplar of a disorder where heightened social motivation is associated with negative behavioural outcomes. In Down syndrome (DS) strong social motivation is described, but less commonly…

  11. How Do Families of Children with Down Syndrome Perceive Speech Intelligibility in Turkey?

    Directory of Open Access Journals (Sweden)

    Bülent Toğram

    2015-01-01

    Full Text Available Childhood verbal apraxia has not been identified or treated sufficiently in children with Down syndrome but recent research has documented that symptoms of childhood verbal apraxia can be found in children with Down syndrome. But, it is not routinely diagnosed in this population. There is neither an assessment tool in Turkish nor any research on childhood verbal apraxia although there is a demand not only for children with Down syndrome but also for normally developing children. The study examined if it was possible to determine oral-motor difficulties and childhood verbal apraxia features in children with Down syndrome through a survey. The survey was a parental report measure. There were 329 surveys received. Results indicated that only 5.6% of children with Down syndrome were diagnosed with apraxia, even though many of the subject children displayed clinical features of childhood verbal apraxia. The most frequently reported symptoms of childhood verbal apraxia in literature were displayed by the children with Down syndrome in the study. Parents could identify childhood verbal apraxia symptoms using parent survey. This finding suggests that the survey can be developed that could serve as a screening tool for a possible childhood verbal apraxia diagnosis in Turkey.

  12. Immunological efficacy of Vaccination against Measles in Children with Down syndrome

    Directory of Open Access Journals (Sweden)

    S. P. Kaplina

    2011-01-01

    Full Text Available The data of current vaccination process of cellular, humoral immunity and specific antibody formation in 41 children with Down syndrome at the age of 1 year to 6 years old is observed. To prevent easles used measles vaccine (n=12, divaccine -measles-mumps (n=21 and or Priorix vaccine (n=8. The comparison group consisted of 63 children without Down syndrome. The post-vaccination period in 97,6% of children with Down syndrome cases are asymptomatic, only 2,4% of children mentioned layering of intercurrent diseases. The immunological status in children with Down syndrome is characterized by a significant decrease in the  umber leucocytes, lymphocytes, CD3+, CD4+, CD8+ and absolute number of CD20+, but functional activity of the cells is preserved. By 30 days after immunization they have increased leucocytes, lymphocytes, CD 95+cells. The number of antibodies significantly increased (6,63±0,33 compared to 5,79±0,32 log2, р < 0,05.

  13. Impact of a new national screening policy for Down's syndrome in Denmark

    DEFF Research Database (Denmark)

    Ekelund, Charlotte K; Jørgensen, Finn Stener; Petersen, Olav Bjørn

    2008-01-01

    OBJECTIVES: To evaluate the impact of a screening strategy in the first trimester, introduced in Denmark during 2004-6, on the number of infants born with Down's syndrome and the number of chorionic villus samplings and amniocenteses, and to determine detection and false positive rates...... and newborn infants with Down's syndrome diagnosed prenatally and postnatally and number of chorionic villus samplings and amniocenteses carried out. Secondary outcomes measured were number of women screened in 2005 and 2006, screen positive rate, and information on screening in 2005 and 2006 for infants...... with a postnatal diagnosis of Down's syndrome. RESULTS: The number of infants born with Down's syndrome decreased from 55-65 per year during 2000-4 to 31 in 2005 and 32 in 2006. The total number of chorionic villus samplings and amniocenteses carried out decreased from 7524 in 2000 to 3510 in 2006. The detection...

  14. [Parenting Stress in Mothers of Children with Down Syndrome in Preschool Age].

    Science.gov (United States)

    Sarimski, Klaus

    2017-11-01

    Parenting Stress in Mothers of Children with Down Syndrome in Preschool Age Research suggests that parenting stress is elevated in parents of children with intellectual disabilities. However, data are inconsistent if this holds true for parents of children with Down syndrome. As part of the Heidelberg Down syndrome study, 52 mothers of children with Down syndrome (mean age: 5 years) completed the German adaptation of the Parenting Stress Index. These results show significantly elevated stress scores in scales measuring demanding and less acceptable behavior of the children (child characteristics). Scores in scales measuring parent characteristics do not differ significantly from the norms. Global stress scores are associated with the degree of behavioral problems (SDQ) and adaptive competence (VABS-II). A regression analysis points to optimism as a dispositional trait of the mother which makes a significant contribution to the prediction of parenting stress scores. The implications for early intervention are discussed.

  15. A Study of Early Fine Motor Intervention in Down's Syndrome Children

    Science.gov (United States)

    Aparicio, Teresa Sanz; Balana, Javier Menendez

    2009-01-01

    The marked delay in acquisition of fine motor skills in trisomic-21/Down's syndrome children is undeniable. In this study, we began with an affirmation that the cause of this deficit could be found in a different environment for which early intervention is essential. A sample of 30 Down's syndrome children was used to study at different ages: six…

  16. Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report

    Science.gov (United States)

    Saldarriaga, Wilmar; Ruiz, Fabian Andres; Tassone, Flora; Hagerman, Randi

    2017-01-01

    Background: Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS. Methods: Cytogenetic testing detected the presence of…

  17. Links between sleep and daytime behaviour problems in children with Down syndrome.

    Science.gov (United States)

    Esbensen, A J; Hoffman, E K; Beebe, D W; Byars, K C; Epstein, J

    2018-02-01

    In the general population, sleep problems have an impact on daytime performance. Despite sleep problems being common among children with Down syndrome, the impact of sleep problems on daytime behaviours in school-age children with Down syndrome is an understudied topic. Our study examined the relationship between parent-reported and actigraphy-measured sleep duration and sleep quality with parent and teacher reports of daytime behaviour problems among school-age children with Down syndrome. Thirty school-age children with Down syndrome wore an actigraph watch for a week at home at night. Their parent completed ratings of the child's sleep during that same week. Their parent and teacher completed a battery of measures to assess daytime behaviour. Parent reports of restless sleep behaviours on the Children's Sleep Habits Questionnaire, but not actigraph-measured sleep efficiency, was predictive of parent and teacher behavioural concerns on the Nisonger Child Behaviour Rating Form and the Vanderbilt ADHD Rating Scales. Actigraph-measured sleep period and parent-reported sleep duration on the Children's Sleep Habits Questionnaire was predictive of daytime parent-reported inattention. Actigraph-measured sleep period was predictive of parent-reported hyperactivity/impulsivity. The study findings suggest that sleep problems have complex relationships to both parent-reported and teacher-reported daytime behaviour concerns in children with Down syndrome. These findings have implications for understanding the factors impacting behavioural concerns and their treatment in school-age children with Down syndrome. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  18. Anomalous brain functional connectivity contributing to poor adaptive behavior in Down syndrome.

    Science.gov (United States)

    Pujol, Jesus; del Hoyo, Laura; Blanco-Hinojo, Laura; de Sola, Susana; Macià, Dídac; Martínez-Vilavella, Gerard; Amor, Marta; Deus, Joan; Rodríguez, Joan; Farré, Magí; Dierssen, Mara; de la Torre, Rafael

    2015-03-01

    Research in Down syndrome has substantially progressed in the understanding of the effect of gene overexpression at the molecular level, but there is a paucity of information on the ultimate consequences on overall brain functional organization. We have assessed the brain functional status in Down syndrome using functional connectivity MRI. Resting-state whole-brain connectivity degree maps were generated in 20 Down syndrome individuals and 20 control subjects to identify sites showing anomalous synchrony with other areas. A subsequent region-of-interest mapping served to detail the anomalies and to assess their potential contribution to poor adaptive behavior. Down syndrome individuals showed higher regional connectivity in a ventral brain system involving the amygdala/anterior temporal region and the ventral aspect of both the anterior cingulate and frontal cortices. By contrast, lower functional connectivity was identified in dorsal executive networks involving dorsal prefrontal and anterior cingulate cortices and posterior insula. Both functional connectivity increases and decreases contributed to account for patient scoring on adaptive behavior related to communication skills. The data overall suggest a distinctive functional organization with system-specific anomalies associated with reduced adaptive efficiency. Opposite effects were identified on distinct frontal and anterior temporal structures and relative sparing of posterior brain areas, which is generally consistent with Down syndrome cognitive profile. Relevantly, measurable connectivity changes, as a marker of the brain functional anomaly, could have a role in the development of therapeutic strategies addressed to improve the quality of life in Down syndrome individuals. Copyright © 2014 Elsevier Ltd. All rights reserved.

  19. Early increased density of cyclooxygenase-2 (COX-2 immunoreactive neurons in Down syndrome

    Directory of Open Access Journals (Sweden)

    Maria Mulet

    2017-06-01

    Full Text Available Neuroinflammation is one of the hallmarks of Alzheimer’s disease. One of the enzymes involved in neuroinflammation, even in early stages of the disease, is COX-2, an inducible cyclooxygenase responsible for the generation of eicosanoids and for the generation of free radicals. Individuals with Down syndrome develop Alzheimer’s disease early in life. Previous studies pointed to the possible overexpression of COX-2 and correlated it to brain regions affected by the disease. We analysed the COX-2 expression levels in individuals with Down syndrome and in young, adult and old mice of the Ts65Dn mouse model for Down syndrome. We have observed an overexpression of COX-2 in both, Down syndrome individuals and mice. Importantly, mice already presented an overexpression of COX-2 at postnatal day 30, before neurodegeneration begins; which suggests that neuroinflammation may underlie the posterior neurodegeneration observed in individuals with Down syndrome and in Ts65Dn mice and could be a factor for the premature appearance of Alzheimer’s disease.

  20. Attention in Williams Syndrome and Down's Syndrome: Performance on the New Early Childhood Attention Battery

    Science.gov (United States)

    Breckenridge, Kate; Braddick, Oliver; Anker, Shirley; Woodhouse, Margaret; Atkinson, Janette

    2013-01-01

    Attentional problems are commonly reported as a feature of the behavioural profile in both Williams syndrome (WS) and Down's syndrome (DS). Recent studies have begun to investigate these impairments empirically, acknowledging the need for an approach that considers cross-syndrome comparisons and developmental changes across the different component…

  1. Perceived parenting style and mother’s behavior in maintaining dental health of children with Down syndrome

    Directory of Open Access Journals (Sweden)

    Siti Fitria Ulfah

    2016-12-01

    Full Text Available Background: The number of children with down syndrome in Surabaya has reached 924 children. Prevalence of gingivitis and dental caries (91% and 93.8%, respectively occurs in children with down syndrome aged 6 to 20 years. Oral and dental health problems are found in children with down syndrome because they have physical and motoric limitation in maintaining oral and dental hygiene, thus require parental care from mother. Perceived parenting style includes responsiveness and demandingness. Perceived parenting is crucial for mother whose children have Down syndrome in order to guide their health behavior, particularly to maintain oral and dental health. Purpose: The study aimed to analyze correlation between perceived parenting style and mother’s behavior in maintaining dental health of children with Down syndrome. Method: This cross sectional analytical study involved 40 mothers of children aged 7-13 years with Down syndrome enrolled in Special Education Elementary Schools Surabaya and Association of Parents of Children with Down syndrome Surabaya. Data of perceived parenting style (responsiveness and demandingness and mother’s behavior in maintaining dental health were obtained by questionnaire. Composition of each item in questionnaire of perceived parenting style and mother’s behavior in maintaining dental health of children with Down syndrome was passed through validity and reliability test. Data analysis was carried out using multiple linear regression correlation test. Result: This present study showed that perceived parenting style is significantly correlated with mother’s behavior in maintaining dental health of children with Down syndrome (R = 0.630, p = 0.000, with perceived parental responsiveness as a strong predictor. Mean score and standard deviation of perceived parental responsiveness and demandingness were 33.00±2.99 and 15.55±1.99, respectively. Conclusion: Perceived maternal parenting style in children with Down

  2. Reduced salivary flow and colonization by mutans streptococci in children with Down syndrome

    Directory of Open Access Journals (Sweden)

    Cristina Areias

    2012-09-01

    Full Text Available OBJECTIVES: Although individuals with Down syndrome have considerable oral disease, the prevalence of dental caries in this group is low. The present study aimed to compare known risk factors for dental caries development in children with Down syndrome and a matched population (siblings. In both populations, the number of acidogenic microorganisms, such as mutans streptococci, lactobacilli and Candida species, and the paraffin-stimulated pH, flow rate and IgA concentration in whole saliva were evaluated and compared. METHOD: Saliva was collected, and the caries index was evaluated in 45 sibling pairs aged between 6 and 18 years old. The salivary IgA concentration was determined by immunoturbidimetry. Salivary mutans streptococci, lactobacilli and Candida species were quantified on mitis salivarius agar containing bacitracin and 20% sucrose, rogosa agar supplemented with glacial acetic acid and sabouraud agar supplemented with chloramphenicol, respectively. RESULTS: Down syndrome children had a higher caries-free rate (p<0.05 and lower salivary mutans streptococci counts (p<0.03 compared to their siblings. Similar numbers of lactobacilli and Candida species were found in both groups. Salivary flow rates were 36% lower in Down syndrome children compared to their siblings (p<0.05. The salivary pH did not differ between Down syndrome children and controls. The Down syndrome children had an IgA secretion rate 29% lower than that of their siblings, but this difference was not statistically significant. CONCLUSIONS: In conclusion, the lower number of mutans streptococci in the saliva may be one of the factors contributing to the lower caries rate observed in Down syndrome children, despite evidence of hyposalivation.

  3. Gait Strategy in Patients with Ehlers-Danlos Syndrome Hypermobility Type and Down Syndrome

    Science.gov (United States)

    Rigoldi, Chiara; Galli, Manuela; Cimolin, Veronica; Camerota, Filippo; Celletti, Claudia; Tenore, Nunzio; Albertini, Giorgio

    2012-01-01

    People suffering from Ehlers-Danlos syndrome (EDS) hypermobility type present a severe ligament laxity that results in difficulties in muscle force transmission. The same condition is present in people suffering from Down syndrome (DS) even if their clumsy movements are due to cerebral and cognitive impairments. The aim of this study was to…

  4. Parent-reported health-related quality of life of children with Down syndrome: a descriptive study.

    Science.gov (United States)

    Shields, Nora; Leonard, Helen; Munteanu, Shannon; Bourke, Jennifer; Lim, Polly; Taylor, Nicholas F; Downs, Jenny

    2018-04-01

    To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data. A cross-sectional survey was conducted with parents of 75 children and adolescents (43 males, 32 females) with Down syndrome aged 5 to 18 years (mean age 13y 2mo, SD 4y 8mo). The proxy-report KIDSCREEN-27 questionnaire was administered and five dimensions of health-related quality of life were measured. Data were analysed descriptively and compared with normative data. Total group mean scores for psychological well-being, autonomy and parent relation, and school environment dimensions were within normal threshold values, whereas mean scores for physical well-being, and social support and peers dimensions, were poorer. For participants with Down syndrome aged 8 to 18 years, the difference with normative data for proxy-reported physical well-being, psychological well-being, and social support and peers dimensions favoured typically developing children. Adolescents (13-18y) with Down syndrome scored poorer on all dimensions than children (5-12y) with Down syndrome. Our findings assist a better understanding of the lived experiences of children and adolescents with Down syndrome, as perceived by their parents, and suggest aspects of health that could be influenced to optimize their quality of life. Proxy-reported psychological well-being and autonomy were within the normal range for children with Down syndrome. Physical well-being and social support scores were significantly lower than normative data. Proxy-reported scores for adolescents with Down syndrome were consistently poorer than for children with Down syndrome and the differences were clinically important. © 2018 Mac Keith Press.

  5. Decline in cerebral glucose utilisation and cognitive function with aging in Down's syndrome.

    OpenAIRE

    Schapiro, M B; Haxby, J V; Grady, C L; Duara, R; Schlageter, N L; White, B; Moore, A; Sundaram, M; Larson, S M; Rapoport, S I

    1987-01-01

    The cerebral metabolic rate for glucose (CMRglc) was measured with positron emission tomography and [18F]2-fluoro-2-deoxy-D-glucose in 14 healthy subjects with Down's syndrome, 19 to 33 years old, and in six healthy Down's syndrome subjects over 35 years, two of whom were demented. Dementia was diagnosed from a history of mental deterioration, disorientation and hallucinations. All Down's syndrome subjects were trisomy 21 karyotype. CMRglc also was examined in 15 healthy men aged 20-35 years ...

  6. Children with Down Syndrome: Implications for Assessment and Intervention in the School

    Science.gov (United States)

    Davis, Andrew S.

    2008-01-01

    Down syndrome is the most common genetic cause of mental retardation and one of the most frequently occurring neurodevelopmental genetic disorders in children. Children with Down syndrome typically experience a constellation of symptomology that includes developmental motor and language delay, specific deficits in verbal memory, and broad…

  7. Tetralogy of fallot in down syndrome (trisomy 21) - an uncommon association

    International Nuclear Information System (INIS)

    Rashid, A.K.M.M.; Basu, B.; Rahman, M.M.

    2009-01-01

    Down Syndrome (trisomy 21) is the common disorder among chromosomal anomalies. This is frequently associated with congenital a cyanotic heart disease. Tetralogy of fallot is an uncommon event in the trisomy 21. Tetralogy of fallot presents with cyanosis usually in the later part of infancy, but cyanosis is present since birth if Tetralogy of Fallot is accompanied with Down Syndrome. (author)

  8. Core vocabulary of young children with Down syndrome.

    Science.gov (United States)

    Deckers, Stijn R J M; Van Zaalen, Yvonne; Van Balkom, Hans; Verhoeven, Ludo

    2017-06-01

    The aim of this study was to develop a core vocabulary list for young children with intellectual disabilities between 2 and 7 years of age because data from this population are lacking in core vocabulary literature. Children with Down syndrome are considered one of the most valid reference groups for researching developmental patterns in children with intellectual disabilities; therefore, spontaneous language samples of 30 Dutch children with Down syndrome were collected during three different activities with multiple communication partners (free play with parents, lunch- or snack-time at home or at school, and speech therapy sessions). Of these children, 19 used multimodal communication, primarily manual signs and speech. Functional word use in both modalities was transcribed. The 50 most frequently used core words accounted for 67.2% of total word use; 16 words comprised core vocabulary, based on commonality. These data are consistent with similar studies related to the core vocabularies of preschoolers and toddlers with typical development, although the number of nouns present on the core vocabulary list was higher for the children in the present study. This finding can be explained by manual sign use of the children with Down syndrome and is reflective of their expressive vocabulary ages.

  9. CARDIOVASCULAR DISORDERS AMONG PERSONS WITH DOWN SYNDROME

    NARCIS (Netherlands)

    Vis, Jeroen C.; van Engelen, Klaartje; Bouma, Berto J.; Bilardo, Catia M.; Blom, Nico A.; Mulder, Barbara J. M.

    2010-01-01

    Down syndrome is the most common chromosomal abnormality among liveborn infants and is the most frequent chromosomal cause of intellectual disability (Frid, Drott, Lundell, Rasmussen, & Anneren, 1999). It is a multisystem disorder, characterized by various congenital defects, organic disorders,

  10. Pediatric acute respiratory distress syndrome: Host factors in Down syndrome and the general population

    NARCIS (Netherlands)

    Bruijn, M.

    2013-01-01

    We find that Down syndrome is an important risk factor for developing acute respiratory distress syndrome (ARDS) in children, but the reason why remains to be elucidated. In addition, we find several differences between adult and pediatric ARDS. The association between C-reactive protein (CRP)

  11. Exploring the Participation of Children with Down Syndrome in Handwriting without Tears

    Science.gov (United States)

    Patton, Sandra; Hutton, Eve

    2017-01-01

    Children with Down Syndrome typically experience difficulties with attention to task and lack motivation when learning to write. This article provides an evaluation of the HWT (Handwriting Without Tears) method applied as an intervention to promote handwriting among children with Down Syndrome attending mainstream school in the Republic of…

  12. [Prevalence of neurological disorders among children with Down syndrome].

    Science.gov (United States)

    Gaete, Beatriz; Mellado, Cecilia; Hernández, Marta

    2012-02-01

    Neurological disturbances are common problems in children with Down Syndrome (DS). To determine the prevalence of neurological disorders affecting children with Down Syndrome. Review of medical records of 253 children aged from 1 day to 23 years affected with DS, attended at a public hospital and a University clinic. The overall prevalence of neurological disorders was 38.7%. The most common problems were ocular motor disorders in 26% of cases and epilepsy in 12%. Neurological disorders are more common in children with DS than in the general population. Motor ocular disorders and epilepsy are the predominant disturbances detected.

  13. Searching for new pharmacological targets for the treatment of Alzheimer's disease in Down syndrome.

    Science.gov (United States)

    Caraci, Filippo; Iulita, M Florencia; Pentz, Rowan; Flores Aguilar, Lisi; Orciani, Chiara; Barone, Concetta; Romano, Corrado; Drago, Filippo; Cuello, A Claudio

    2017-12-15

    Individuals with Down syndrome are at increased risk of developing Alzheimer's disease due to increase gene dosage resulting from chromosome 21 triplication. Although virtually all adults with Down syndrome will exhibit the major neuropathological hallmarks that define Alzheimer's disease, not all of them will develop the clinical symptoms associated with this disorder (i.e. dementia). Therefore, a good understanding of the pathophysiology of Alzheimer's disease in Down syndrome will be crucial for the identification of novel pharmacological targets to develop disease-modifying therapies for the benefit of Down syndrome individuals and for Alzheimer's sufferers alike. The study of biomarkers will also be essential for the development of better screening tools to identify dementia at its incipient stages. This review discusses the best-validated pharmacological targets for the treatment of cognitive impairment and Alzheimer's disease in Down syndrome. We further examine the relevance of newly discovered biological markers for earlier dementia diagnosis in this population. Crown Copyright © 2017. Published by Elsevier B.V. All rights reserved.

  14. Augmentative and alternative communication in children with Down's syndrome: a systematic review.

    Science.gov (United States)

    Barbosa, Renata Thaís de Almeida; de Oliveira, Acary Souza Bulle; de Lima Antão, Jennifer Yohanna Ferreira; Crocetta, Tânia Brusque; Guarnieri, Regiani; Antunes, Thaiany Pedrozo Campos; Arab, Claudia; Massetti, Thaís; Bezerra, Italla Maria Pinheiro; de Mello Monteiro, Carlos Bandeira; de Abreu, Luiz Carlos

    2018-05-11

    The use of technology to assist in the communication, socialization, language, and motor skills of children with Down's syndrome (DS) is required. The aim of this study was to analyse research findings regarding the different instruments of 'augmentative and alternative communication' used in children with Down's syndrome. This is a systematic review of published articles available on PubMed, Web of Science, PsycInfo, and BVS using the following descriptors: assistive technology AND syndrome, assistive technology AND down syndrome, down syndrome AND augmentative and alternative communication. Studies published in English were selected if they met the following inclusion criteria: (1) study of children with a diagnosis of DS, and (2) assistive technology and/or augmentative and alternative communication analysis in this population. A total of 1087 articles were identified. Thirteen articles met the inclusion criteria. The instruments most used by the studies were speech-generating devices (SGDs) and the Picture Exchange Communication System (PECS). Twelve instruments that provided significant aid to the process of communication and socialization of children with DS were identified. These instruments increase the interaction between individuals among this population and their peers, contributing to their quality of life and self-esteem.

  15. Links between Sleep and Daytime Behaviour Problems in Children with Down Syndrome

    Science.gov (United States)

    Esbensen, A. J.; Hoffman, E. K.; Beebe, D. W.; Byars, K. C.; Epstein, J.

    2018-01-01

    Background: In the general population, sleep problems have an impact on daytime performance. Despite sleep problems being common among children with Down syndrome, the impact of sleep problems on daytime behaviours in school-age children with Down syndrome is an understudied topic. Our study examined the relationship between parent-reported and…

  16. Treatment of Hyperthyroidism in Down Syndrome: Case Report and Review of Literature.

    Science.gov (United States)

    Ali, Fawzi E.; Al-Busairi, Waleed A.; Al-Mulla, Fatema A.

    1999-01-01

    A case of an institutionalized adult male with Down syndrome and hyperthyroidism is reported. After treatment with radioactive iodine, he was found to be markedly hypothyroid when he was reviewed 11 weeks later. Three treatment options for hyperthyroidism in Down syndrome are reviewed: surgery, medical treatments, and radiotherapy. (Author/CR)

  17. Prenatal Diagnosis of Transient Abnormal Myelopoiesis in a Down Syndrome Fetus

    International Nuclear Information System (INIS)

    Kim, Gwang Jun; Lee, Eun Sil

    2009-01-01

    We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28 +3 weeks of gestation that rapidly progressed to intrauterine death 10 days later. Fetal hepatosplenomegaly with cerebral ventriculomegaly, although not specific, may be a suggestive finding of Down syndrome with transient abnormal myelopoiesis. Prompt fetal blood sampling for liver function test and chromosomal analysis are mandatory for early detection and management

  18. The autistic phenotype in Down syndrome: differences in adaptive behaviour versus Down syndrome alone and autistic disorder alone.

    Science.gov (United States)

    Dressler, Anastasia; Perelli, Valentina; Bozza, Margherita; Bargagna, Stefania

    2011-01-01

    The autistic phenotype in Down syndrome (DS) is marked by a characteristic pattern of stereotypies, anxiety and social withdrawal. Our aim was to study adaptive behaviour in DS with and without autistic comorbidity using the Vineland Adaptive Behaviour Scales (VABS), the Childhood Autism Rating Scales (CARS) and the DSM IV-TR criteria. We assessed 24 individuals and established three groups: Down syndrome (DS), DS and autistic disorder (DS-AD), and autistic disorder (AD). The DS and DS-AD groups showed statistically significantly similar strengths on the VABS (in receptive and domestic skills). The DS and DS-AD subjects also showed similar strengths on the CARS (in imitation and relating), differing significantly from the AD group. The profile of adaptive functioning and symptoms in DS-AD seemed to be more similar to that found in DS than to the profile emerging in AD. We suggest that the comorbidity of austistic symptoms in DS hampered the acquisition of adaptive skills more than did the presence of DS alone.

  19. Examining Courtesy Stigma in Siblings of People with Down Syndrome

    OpenAIRE

    Fulk, Kelly

    2014-01-01

    The purpose of this study was to determine whether siblings of people with Down syndrome face courtesy stigma, a stigma acquired as a result of an association with a person from a stigmatized group. The central hypothesis was that the majority of people who have a sibling with Down syndrome face courtesy stigma during both adolescence and adulthood. The data supports this hypothesis, showing that 76% of respondents reported courtesy stigma as adolescents and 62% reported courtesy stigma as ad...

  20. Down syndrome and aberrant right subclavian artery

    NARCIS (Netherlands)

    Roofthooft, Marcus T. R.; van Meer, Hester; Rietman, Wim G.; Ebels, Tjark; Berger, Rolf M. F.

    Down syndrome (DS) may be associated with various organ system disorders. Feeding problems are frequent in children with DS and may be caused by associated defects, including congenital heart defects, gastrointestinal defects, or endocrine disorders. In the absence of these associated conditions,

  1. Treatment Approaches in Down's Syndrome: A Review.

    Science.gov (United States)

    Foreman, Philip J.; Ward, James

    1986-01-01

    The paper reviews research into treatment approaches in Down's Syndrome. Pharmacological treatments reviewed include thyroid therapy, 5-hydroxytryptophan, vitamin therapy, and cell therapy. Other treatments considered are movement patterning, early intervention, and facial surgery. Early educational intervention is seen as the most effective…

  2. Comparative study of dental anomalies assessed with panoramic radiographs of Down syndrome and non-Down syndrome patients.

    Science.gov (United States)

    Mayoral-Trias, M A; Llopis-Perez, J; Puigdollers Pérez, A

    2016-03-01

    The aim of this study was to compare the prevalence of dental anomalies from panoramic radiographs of age-matched individuals with and without Down Syndrome (DS). This is a retrospective cross-sectional study. A group of 41 patients (19 female and 22 male) with Down Syndrome (DS), mean age 10.6 ± 1.4 and a control group of 42 non- DS patients (26 female and 16 male), mean age 11.1 ± 1.3 were studied. This study examined the medical history and a panoramic radiograph of each patient. The dental anomalies studied were agenesis of permanent teeth (except third molars), size and shape maxillary lateral anomalies and maxillary canine eruption path anomalies. The groups were compared using Mann-Whitney and Wilcoxon non-parametric tests (panomalies of maxillary lateral incisors, as well as for canine eruption anomalies (pdental anomalies were present in the DS group than in the control group, which implied that DS patients need periodical dental and orthodontic supervision so as to prevent or control subsequent oral problems.

  3. Congenital Chylothorax in a Newborn with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Nazan Neslihan Doğan

    2017-03-01

    Full Text Available In the neonatal period, the most common cause of pleural effusion is idiopathic congenital chylothorax. Congenital chylothorax is rarely associated with chromosomal abnormalities, such as Down, Turner and Noonan syndromes. The diagnosis can be made after analysis of the pleural fluid drained by thoracentesis or chest tube placement. During the neonatal period, chylothorax treatment is composed of conservative and surgical therapies. Nowadays, for cases among which conservative therapies fail, treatment with octreotide has been reported to be beneficial with promising results. In this report, a case of congenital chylothorax, in a newborn with Down syndrome, treated by octreotide after failure of chest tube drainage and medical treatment (total parenteral nutrition and medium chain fatty acid formula is presented.

  4. Outcome Measures for Clinical Trials in Down Syndrome.

    Science.gov (United States)

    Esbensen, Anna J; Hooper, Stephen R; Fidler, Deborah; Hartley, Sigan L; Edgin, Jamie; d'Ardhuy, Xavier Liogier; Capone, George; Conners, Frances A; Mervis, Carolyn B; Abbeduto, Leonard; Rafii, Michael; Krinsky-McHale, Sharon J; Urv, Tiina

    2017-05-01

    Increasingly individuals with intellectual and developmental disabilities, including Down syndrome, are being targeted for clinical trials. However, a challenge exists in effectively evaluating the outcomes of these new pharmacological interventions. Few empirically evaluated, psychometrically sound outcome measures appropriate for use in clinical trials with individuals with Down syndrome have been identified. To address this challenge, the National Institutes of Health (NIH) assembled leading clinicians and scientists to review existing measures and identify those that currently are appropriate for trials; those that may be appropriate after expansion of age range addition of easier items, and/or downward extension of psychometric norms; and areas where new measures need to be developed. This article focuses on measures in the areas of cognition and behavior.

  5. First-trimester combined screening for Down syndrome

    DEFF Research Database (Denmark)

    Pihl, Kasper; Sørensen, Tina Lindvig; Nørgaard Pedersen, Bent

    2008-01-01

    OBJECTIVE: To establish the relationship between the first-trimester screening markers [pregnancy-associated plasma protein A (PAPP-A), free human chorionic gonadotrophin-beta (beta-hCG), nuchal translucency (NT)], the Down syndrome (DS) risk estimate, and the adverse outcomes such as low birth w...

  6. Working memory in children and adolescents with Down syndrome: evidence from a colour memory experiment.

    Science.gov (United States)

    Laws, Glynis

    2002-03-01

    This paper reports information on the visual and verbal short-term memory of individuals with Down syndrome. Colour memory in 16 children and adolescents with Down syndrome was compared with that of 16 typically developing children matched for receptive vocabulary. It was suggested that focal colours should be remembered more successfully than non-focal colours on the basis that the former could be remembered using a verbal recoding strategy. However, children with Down syndrome, for whom a deficit in verbal short-term memory makes the use of such a strategy unlikely, should remember focal and non-focal colours equally well. More importantly, if individuals with Down syndrome have more developed visual memory abilities than control children, they should outperform them in recognising non-focal colours. Although the group with Down syndrome demonstrated significantly better Corsi blocks performance than controls, and displayed similar levels of colour knowledge, no advantage for colour memory was found. Non-focal colours were remembered by individuals with Down syndrome as successfully as focal colours but there was no indication of a visual memory advantage over controls. Focal colours were remembered significantly more successfully than non-focal colours by the typically developing children. Their focal colour memory was significantly related to digit span, but only Corsi span was related to focal colour memory in the group with Down syndrome.

  7. Prenatal Diagnosis of Transient Abnormal Myelopoiesis in a Down Syndrome Fetus

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Gwang Jun; Lee, Eun Sil [Chung-Ang University School of Medicine, Seoul (Korea, Republic of)

    2009-04-15

    We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28{sup +3} weeks of gestation that rapidly progressed to intrauterine death 10 days later. Fetal hepatosplenomegaly with cerebral ventriculomegaly, although not specific, may be a suggestive finding of Down syndrome with transient abnormal myelopoiesis. Prompt fetal blood sampling for liver function test and chromosomal analysis are mandatory for early detection and management.

  8. Study of Different Social Rewards Used in Down's Syndrome Children's Early Stimulation

    Science.gov (United States)

    Sanz, Teresa; Menendez, Javier; Rosique, Teresa

    2011-01-01

    This article describes the results obtained with two types of social rewards used in early stimulation of Down's syndrome children. In the study we focus on the efficiency of the employment of the social rewards or reinforcements used in the early stimulation, bearing in mind that the children with Down's syndrome possess a social development…

  9. Subpleural lung cysts in Down syndrome: prevalence and association with coexisting diagnoses

    Energy Technology Data Exchange (ETDEWEB)

    Biko, David M. [Pennsylvania Hospital, Department of Radiology, Philadelphia, PA (United States); Schwartz, Michael; Anupindi, Sudha A. [Children' s Hospital of Philadelphia, Philadelphia, PA (United States); Altes, Talissa A. [Children' s Hospital of Philadelphia, Philadelphia, PA (United States); University of Virginia, Charlottesville, VA (United States)

    2008-03-15

    Although subpleural cysts are known to be associated with Down syndrome, their etiology and prevalence remains unknown. To determine the prevalence of subpleural cysts in children with Down syndrome and the association with prematurity, congenital heart disease (CHD), extracorporeal membrane oxygenation (ECMO), and chronic ventilator support. A review of the CT examinations of 25 children with Down syndrome was performed to determine the presence, location, and distribution of cysts along with associated abnormalities. Charts were reviewed and coexistent diagnoses and past treatments were recorded. The prevalence of subpleural cysts was 36% with no significant association with CHD, ECMO, or chronic ventilator support. An association was found in the two children with a history of prematurity. The cysts were most commonly found in the anteromedial portion of the lung. Subpleural cysts are common in Down syndrome and should not be confused with another pathological process. An association with prematurity was found, but the low number of children in this study makes the connection uncertain. The etiology remains unclear, but it has been hypothesized that the cysts are associated with lung hypoplasia. (orig.)

  10. Subpleural lung cysts in Down syndrome: prevalence and association with coexisting diagnoses

    International Nuclear Information System (INIS)

    Biko, David M.; Schwartz, Michael; Anupindi, Sudha A.; Altes, Talissa A.

    2008-01-01

    Although subpleural cysts are known to be associated with Down syndrome, their etiology and prevalence remains unknown. To determine the prevalence of subpleural cysts in children with Down syndrome and the association with prematurity, congenital heart disease (CHD), extracorporeal membrane oxygenation (ECMO), and chronic ventilator support. A review of the CT examinations of 25 children with Down syndrome was performed to determine the presence, location, and distribution of cysts along with associated abnormalities. Charts were reviewed and coexistent diagnoses and past treatments were recorded. The prevalence of subpleural cysts was 36% with no significant association with CHD, ECMO, or chronic ventilator support. An association was found in the two children with a history of prematurity. The cysts were most commonly found in the anteromedial portion of the lung. Subpleural cysts are common in Down syndrome and should not be confused with another pathological process. An association with prematurity was found, but the low number of children in this study makes the connection uncertain. The etiology remains unclear, but it has been hypothesized that the cysts are associated with lung hypoplasia. (orig.)

  11. An economic evaluation of second-trimester genetic ultrasonography for prenatal detection of down syndrome.

    Science.gov (United States)

    Vintzileos, A M; Ananth, C V; Fisher, A J; Smulian, J C; Day-Salvatore, D; Beazoglou, T; Knuppel, R A

    1998-11-01

    The objective of this study was to perform an economic evaluation of second-trimester genetic ultrasonography for prenatal detection of Down syndrome. More specifically, we sought to determine the following: (1) the diagnostic accuracy requirements (from the cost-benefit point of view) of genetic ultrasonography versus genetic amniocentesis for women at increased risk for fetal Down syndrome and (2) the possible economic impact of second-trimester genetic ultrasonography for the US population on the basis of the ultrasonographic accuracies reported in previously published studies. A cost-benefit equation was developed from the hypothesis that the cost of universal genetic amniocentesis of patients at increased risk for carrying a fetus with Down syndrome should be at least equal to the cost of universal genetic ultrasonography with amniocentesis used only for those with abnormal ultrasonographic results. The main components of the equation included the diagnostic accuracy of genetic ultrasonography (sensitivity and specificity for detecting Down syndrome), the costs of the amniocentesis package and genetic ultrasonography, and the lifetime cost of Down syndrome cases not detected by the genetic ultrasonography. After appropriate manipulation of the equation a graph was constructed, representing the balance between sensitivity and false-positive rate of genetic ultrasonography; this was used to examine the accuracy of previously published studies from the cost-benefit point of view. Sensitivity analyses included individual risks for Down syndrome ranging from 1:261 (risk of a 35-year-old at 18 weeks' gestation) to 1:44 (risk of a 44-year-old at 18 weeks' gestation). This economic evaluation was conducted from the societal perspective. Genetic ultrasonography was found to be economically beneficial only if the overall sensitivity for detecting Down syndrome was >74%. Even then, the cost-benefit ratio depended on the corresponding false-positive rate. Of the 7

  12. Emotion Regulation in Children with Down Syndrome.

    Science.gov (United States)

    Smith, Maureen C.; Walden, Tedra A.

    This study presents a preliminary exploration of emotion regulation in a sample of 20 children (ages 3-18 years) with Down Syndrome. Three aspects of emotion regulation (modulation, organization, flexibility) were predicted from emotion variables (affect intensity, affective expression, and autonomy-curiosity and motivation) in backward regression…

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

    Science.gov (United States)

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

    2014-12-08

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

  14. Levendefødte i Norge 1967-76 med diagnosen Down syndrom – en registerstudie

    Directory of Open Access Journals (Sweden)

    Tor Bjerkedal

    2009-10-01

    Full Text Available Diagnoser av Down syndrom registrert i Medisinsk fødselsregister (MFR er sammenholdt med diagnoser registrert i stønadsregistrene i Ny arbeids- og velferdsetat (NAV, tidligere Rikstrygdeverket for alle levendefødte i årene 1967-76, i alt 629 928. Formålet med studien har vært å vurdere hvor ofte diagnosen Down syndrom registreres i MFR i forhold til forekomsten av tilstanden og validiteten av diagnosene, og å følge opp sannsynlige tilfeller av Down syndrom til ung voksen alder i forhold til overlevelse, utdanning, arbeidsaktivitet, uførepensjonering og familiedannelse. Oppfølgingen er muliggjort ved registerkoblinger, godkjent av Datatilsynet og utført av Statistisk sentralbyrå. Totalt var diagnosen Down syndrom registrert i 784 tilfeller, 1,25 per 1000 levendefødte, noe høyere for gutter, 1,31, enn for piker 1,19. Falske positive i MFR utgjorde 4,9 prosent mens falske negative er anslått til 27,8 prosent. Det vil si at 72,2 prosent av Down syndrom tilfellene blir diagnostisert ved fødsel og registrert i MFR. Dette anslag er beheftet med atskillig usikkerhet. Usikkerheten skyldes omfanget av fosterindisert abort, uensartet diagnostikk, varierende meldefrekvens og mangelfull registrering. Å redusere usikkerheten ville kreve systematisk tilgang til relevante helseregistre og at helsevesenets samlede kunnskap om personer med definerte lidelser kan innhentes løpende. Personvern, slik dette forståes og praktiseres i dag, vil sannsynligvis hindre en slik løsning. En systematisk oppfølging er imidlertid viktig for velferden for utsatte grupper i vårt samfunn. I foreliggende undersøkelse kan det dokumenteres at personer med Down syndrom ikke oppnår den arbeidsaktivitet som utdanningen de har gjennomført skulle tilsi. At noen få tilfeller ikke synes å være uførepensjonert før 30-års alderen kan også være et interessant funn. En avklaring på dette forhold kunne gi nyttig informasjon for velferdsarbeidet for personer med

  15. Inner ear anomalies seen on CT images in people with Down syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Intrapiromkul, Jarunee; Aygun, Nafi; Yousem, David M. [The Johns Hopkins Medical Institutions, The Russell H. Morgan Department of Radiology and Radiological Sciences, Baltimore, MD (United States); Tunkel, David E. [The Johns Hopkins Medical Institutions, Department of Otolaryngology-Head and Neck Surgery, Baltimore, MD (United States); Carone, Marco [University of California, Division of Biostatistics, School of Public Health, Berkeley, CA (United States)

    2012-12-15

    Although dysplasia of inner ear structures in Down syndrome has been reported in several histopathological studies, the imaging findings have not been widely studied. To evaluate the prevalence and clinical significance of inner ear anomalies detected on CT images in patients with Down syndrome. The temporal bone CT images of patients with Down syndrome were assessed for inner ear anomalies; clinical notes and audiograms were reviewed for hearing loss. Logistic regression models were employed to identify which CT findings were associated with sensorineural hearing loss (SNHL). Inner ear anomalies were observed in 74.5% (38/51) of patients. Malformed bone islands of lateral semicircular canal (LSCC), narrow internal auditory canals (IACs), cochlear nerve canal stenoses, semicircular canal dehiscence (SCCD), and enlarged vestibular aqueducts were detected in 52.5% (53/101), 24.5% (25/102), 21.4% (21/98), 8.8% (9/102) and 2% (2/101) of patients' ears, respectively. IAC stenosis had the highest odds ratio (OR = 5.37, 95% CI: 1.0-28.9, P = 0.05) for SNHL. Inner ear anomalies occurred in 74.5% of our population, with malformed (<3 mm) bone island of LSCC being the most common (52.5%) anomaly. Narrow IAC was seen in 24.5% of patients with Down syndrome and in 57.1% of ears with SNHL. High-resolution CT is a valuable for assessing the cause of hearing loss in people with Down syndrome. (orig.)

  16. Inner ear anomalies seen on CT images in people with Down syndrome

    International Nuclear Information System (INIS)

    Intrapiromkul, Jarunee; Aygun, Nafi; Yousem, David M.; Tunkel, David E.; Carone, Marco

    2012-01-01

    Although dysplasia of inner ear structures in Down syndrome has been reported in several histopathological studies, the imaging findings have not been widely studied. To evaluate the prevalence and clinical significance of inner ear anomalies detected on CT images in patients with Down syndrome. The temporal bone CT images of patients with Down syndrome were assessed for inner ear anomalies; clinical notes and audiograms were reviewed for hearing loss. Logistic regression models were employed to identify which CT findings were associated with sensorineural hearing loss (SNHL). Inner ear anomalies were observed in 74.5% (38/51) of patients. Malformed bone islands of lateral semicircular canal (LSCC), narrow internal auditory canals (IACs), cochlear nerve canal stenoses, semicircular canal dehiscence (SCCD), and enlarged vestibular aqueducts were detected in 52.5% (53/101), 24.5% (25/102), 21.4% (21/98), 8.8% (9/102) and 2% (2/101) of patients' ears, respectively. IAC stenosis had the highest odds ratio (OR = 5.37, 95% CI: 1.0-28.9, P = 0.05) for SNHL. Inner ear anomalies occurred in 74.5% of our population, with malformed (<3 mm) bone island of LSCC being the most common (52.5%) anomaly. Narrow IAC was seen in 24.5% of patients with Down syndrome and in 57.1% of ears with SNHL. High-resolution CT is a valuable for assessing the cause of hearing loss in people with Down syndrome. (orig.)

  17. Physical activity patterns of youth with Down syndrome.

    Science.gov (United States)

    Esposito, Phil E; MacDonald, Megan; Hornyak, Joseph E; Ulrich, Dale A

    2012-04-01

    The purpose of this study was to examine the physical activity patterns of children with Down syndrome. A cross-sectional approach and accelerometry were used to measure the time children with Down syndrome (N = 104) spent in sedentary, light, and moderate-to-vigorous physical activity. Results indicated that adolescents from ages 14 to 15 years were the most sedentary and spent the least amount of time in light and moderate-to-vigorous physical activity. A general trend of decreasing physical activity as children increase in age was found. This trend is similar to that found among typically developing youth. Participants in this study were found to spend a majority of their day engaged in sedentary activities. Results indicate that most participants were not accumulating the recommended 60 minutes of moderate or vigorous physical activity.

  18. Transient abnormal myelopoesis in an infant with Down syndrome

    African Journals Online (AJOL)

    2010-01-13

    Jan 13, 2010 ... syndrome and trisomy 21 mosaicism (1). The majorities of infants with TAM are asymptomatic and picked up incidentally on routine testing. Most cases of TAM resolve over the first few months of life, but 13Á33% may go on to develop AML within the first four years of life. Neonates with Down syndrome are ...

  19. Bone mineral density in adults with Down`s syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Angelopoulou, N.; Souftas, V.; Mandroukas, K. [Ergophysiology Lab., Aristotle Univ. of Thessaloniki, Thessaloniki (Greece); Sakadamis, A. [Medical School, Aristotle Univ. of Thessaloniki (Greece)

    1999-05-01

    The objective of the study was to elucidate if individuals with Down`s syndrome (DS) are likely to experience an increased risk of osteoporosis with advancing age, in addition to precocious aging and their skeletal anomalies. Bone mineral density (BMD) was measured in 22 home-reared adults (9 males and 13 females; age 26.22 {+-} 4.45 and 23.65 {+-} 3.23 years, respectively) by dual energy X-ray absorptiometry (DXA). The BMD of the second to fourth lumbar vertebrae was measured in posteroanterior projection and the mean density expressed as grams per square centimetre. The BMD of DS individuals was compared with 27 control subjects (12 males and 15 females) of the same age (age 24.16 {+-} 3.46 and 23.86 {+-} 2.92 years, respectively). The results showed that the BMD of the lumbar spine in the males as well as in the females with DS was significantly lower than that in their control counterparts (p < 0.001). Comparing the DS males with the females, the BMD was lower in the males at a level of 9 %. Factors that contribute to this disorder may be mainly the muscular hypotonia, the sedentary lifestyle and the accompanying diseases which frequently observed in the syndrome. Future studies must be focused on the biochemistry of bone metabolism, the evaluation of gonadal, thyroid and parathyroid function, and the genes of the extra chromosome 21. (orig.) With 1 tab., 21 refs.

  20. The relation between salivary sIgA level and caries incidence in Down syndrome children

    Directory of Open Access Journals (Sweden)

    Rosdiana Rosdiana

    2012-06-01

    Full Text Available Background: Down syndrome or Trisomy 21 is a genetic disorder caused by extra chromosome on chromosome 21. Down syndrome child, however, has good resistance against caries, and some of them even are caries-free. It is because the level of salivary sIgA in Down syndrome children is equal or even higher than that in normal children. Purpose: This review was aimed to review the relation between salivary sIgA level and caries incidence in Down syndrome children. Reviews: Down syndrome is a collection of symptoms caused by chromosomal abnormality that has a number of physical and mental disorders. Down syndrome children, nevertheless, have significantly lower incidence of caries than normal children. These conditions are thought to relate to characteristics of oral cavity and the level of salivary sIgA in Down syndrome children. Caries is a disease of dental hard tissues caused by the fermentation of sucrose into glucans by glucosyltransferase enzymes (GTF of Streptococcus mutans (S. mutans. One of proteins in saliva that acts as a defense mechanism is imunoglubulin. Secretory immunoglobulin A (sIgA inhibits the activity of S. mutans as bacteria causing caries forming glucan. This immunoglobulin, sIgA, is the most abundant immunoglobulin in saliva. The level of salivary sIgA in Down syndrome children is significantly higher than that in normal children. Conclusion: Besides factors of tooth eruption delays, wide spaces among teeth, microdontia, pH, and high saliva contents (calcium, sodium, bicarbonate, the low incidence of caries in Down syndrome children is also related with the higher level of salivary sIgA in Down syndrome children than that in normal children.Latar belakang: Sindroma Down atau Trisomi 21 merupakan kelainan genetik yaitu adanya kromosom ekstra pada kromosom 21. Anak sindroma Down memiliki resistensi yang baik terhadap karies dan sebagian dari mereka bebas karies. Kadar sIgA saliva anak sindroma Down sama atau bahkan lebih tingi

  1. Pharmacological interventions for cognitive decline in people with Down syndrome.

    Science.gov (United States)

    Livingstone, Nuala; Hanratty, Jennifer; McShane, Rupert; Macdonald, Geraldine

    2015-10-29

    People with Down syndrome are vulnerable to developing dementia at an earlier age than the general population. Alzheimer's disease and cognitive decline in people with Down syndrome can place a significant burden on both the person with Down syndrome and their family and carers. Various pharmacological interventions, including donepezil, galantamine, memantine and rivastigmine, appear to have some effect in treating cognitive decline in people without Down syndrome, but their effectiveness for those with Down syndrome remains unclear. To assess the effectiveness of anti-dementia pharmacological interventions and nutritional supplements for treating cognitive decline in people with Down syndrome. In January 2015, we searched CENTRAL, ALOIS (the Specialised Register of the Cochrane Dementia and Cognitive Improvement Group), Ovid MEDLINE, Embase, PsycINFO, seven other databases, and two trials registers. In addition, we checked the references of relevant reviews and studies and contacted study authors, other researchers and relevant drug manufacturers to identify additional studies. Randomised controlled trials (RCTs) of anti-dementia pharmacological interventions or nutritional supplements for adults (aged 18 years and older) with Down syndrome, in which treatment was administered and compared with either placebo or no treatment. Two review authors independently assessed the risk of bias of included trials and extracted the relevant data. Review authors contacted study authors to obtain missing information where necessary. Only nine studies (427 participants) met the inclusion criteria for this review. Four of these (192 participants) assessed the effectiveness of donepezil, two (139 participants) assessed memantine, one (21 participants) assessed simvastatin, one study (35 participants) assessed antioxidants, and one study (40 participants) assessed acetyl-L-carnitine.Five studies focused on adults aged 45 to 55 years, while the remaining four studies focused on

  2. Pain sensitivity of children with Down syndrome and their siblings: quantitative sensory testing versus parental reports.

    Science.gov (United States)

    Valkenburg, Abraham J; Tibboel, Dick; van Dijk, Monique

    2015-11-01

    The aim of this study was to compare thermal detection and pain thresholds in children with Down syndrome with those of their siblings. Sensory detection and pain thresholds were assessed in children with Down syndrome and their siblings using quantitative testing methods. Parental questionnaires addressing developmental age, pain coping, pain behaviour, and chronic pain were also utilized. Forty-two children with Down syndrome (mean age 12y 10mo) and 24 siblings (mean age 15y) participated in this observational study. The different sensory tests proved feasible in 13 to 29 (33-88%) of the children with Down syndrome. These children were less sensitive to cold and warmth than their siblings, but only when measured with a reaction time-dependent method, and not with a reaction time-independent method. Children with Down syndrome were more sensitive to heat pain, and only 6 (14%) of them were able to adequately self-report pain, compared with 22 (92%) of siblings (pChildren with Down syndrome will remain dependent on pain assessment by proxy, since self-reporting is not adequate. Parents believe that their children with Down syndrome are less sensitive to pain than their siblings, but this was not confirmed by quantitative sensory testing. © 2015 Mac Keith Press.

  3. Language and Verbal Short-Term Memory Skills in Children with Down Syndrome: A Meta-Analytic Review

    Science.gov (United States)

    Naess, Kari-Anne B.; Lyster, Solveig-Alma Halaas; Hulme, Charles; Melby-Lervag, Monica

    2011-01-01

    This study presents a meta-analytic review of language and verbal short-term memory skills in children with Down syndrome. The study examines the profile of strengths and weaknesses in children with Down syndrome compared to typically developing children matched for nonverbal mental age. The findings show that children with Down syndrome have…

  4. Boerhaave's syndrome in a patient with an upside down stomach: A case report.

    Science.gov (United States)

    Saito, Shin; Hosoya, Yoshinori; Kurashina, Kentaro; Matsumoto, Shiro; Kanamaru, Rihito; Ui, Takashi; Haruta, Hidenori; Kitayama, Joji; Lefor, Alan K; Sata, Naohiro

    2016-01-01

    Spontaneous esophageal perforation, or Boerhaave's syndrome, is a life-threating condition which usually requires emergent surgery. An upside down stomach is defined as a gastric volvulus in a huge supradiaphragmatic sac. In general, this condition can result in ischemia and perforation of the stomach. This is the first report of a patient with Boerhaave's syndrome and an upside down stomach. A 79-year-old woman presented with sudden epigastric pain following hematemesis. Evaluation of the patient showed both an esophageal perforation and an upside down stomach. Surgical drainage and irrigation of the mediastinum and pleural cavities were undertaken emergently. Due to the concurrent gastric volvulus, a gastrostomy was placed to fix and decompress the stomach. The patient had an uneventful hospital course and was discharged. Boerhaave's syndrome is a rare but severe complication caused by excessive vomiting, due to a sudden elevation in intraluminal esophageal pressure resulting in esophageal perforation. Acute gastric volvulus can result in ischemia and perforation of the stomach, but has not previously been reported with esophageal perforation. The most likely mechanism associating an upside down stomach with Boerhaave's syndrome is acute gastric outlet obstruction resulting in vomiting, and subsequent esophageal perforation. Perforation of the esophagus as well as perforation of the stomach must be considered in patients with an upside down stomach although both upside down stomach and Boerhaave's syndrome are rare clinical entities. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  5. A Cross-Syndrome Study of the Development of Holistic Face Recognition in Children with Autism, Down Syndrome, and Williams Syndrome

    Science.gov (United States)

    Annaz, Dagmara; Karmiloff-Smith, Annette; Johnson, Mark H.; Thomas, Michael S. C.

    2009-01-01

    We report a cross-syndrome comparison of the development of holistic processing in face recognition in school-aged children with developmental disorders: autism, Down syndrome, and Williams syndrome. The autism group was split into two groups: one with high-functioning children and one with low-functioning children. The latter group has rarely…

  6. First-trimester maternal serum human thyroid-stimulating hormone in chromosomally normal and Down syndrome pregnancies

    NARCIS (Netherlands)

    Pratt, JJ; de Wolf, BTHM; Mantingh, A

    Maternal serum human thyroid-stimulating hormone (TSH) levels were investigated in chromosomally normal and Down syndrome pregnancies to determine whether TSH can be used as a marker for Down syndrome in the first trimester. Measurements were conducted on stored serum samples collected from 23 Down

  7. Mathematics interventions for children and adolescents with Down syndrome: a research synthesis.

    Science.gov (United States)

    Lemons, C J; Powell, S R; King, S A; Davidson, K A

    2015-08-01

    Many children and adolescents with Down syndrome fail to achieve proficiency in mathematics. Researchers have suggested that tailoring interventions based on the behavioural phenotype may enhance efficacy. The research questions that guided this review were (1) what types of mathematics interventions have been empirically evaluated with children and adolescents with Down syndrome?; (2) do the studies demonstrate sufficient methodological rigor?; (3) is there evidence of efficacy for the evaluated mathematics interventions?; and (4) to what extent have researchers considered aspects of the behavioural phenotype in selecting, designing and/or implementing mathematics interventions for children and adolescents with Down syndrome? Nine studies published between 1989 and 2012 were identified for inclusion. Interventions predominantly focused on early mathematics skills and reported positive outcomes. However, no study met criteria for methodological rigor. Further, no authors explicitly considered the behavioural phenotype. Additional research using rigorous experimental designs is needed to evaluate the efficacy of mathematics interventions for children and adolescents with Down syndrome. Suggestions for considering the behavioural phenotype in future research are provided. © 2015 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  8. The Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) Scale : Comprehensive Assessment of Psychopathology in Down Syndrome

    NARCIS (Netherlands)

    Dekker, Alain D; Sacco, Silvia; Carfi, Angelo; Benejam, Bessy; Vermeiren, Yannick; Beugelsdijk, Gonny; Schippers, Mieke; Hassefras, Lyanne; Eleveld, José; Grefelman, Sharina; Fopma, Roelie; Bomer-Veenboer, Monique; Boti, Mariángeles; Oosterling, G Danielle E; Scholten, Esther; Tollenaere, Marleen; Checkley, Laura; Strydom, André; Van Goethem, Gert; Onder, Graziano; Blesa, Rafael; Zu Eulenburg, Christine; Coppus, Antonia M W; Rebillat, Anne-Sophie; Fortea, Juan; De Deyn, Peter P

    2018-01-01

    People with Down syndrome (DS) are prone to develop Alzheimer's disease (AD). Behavioral and psychological symptoms of dementia (BPSD) are core features, but have not been comprehensively evaluated in DS. In a European multidisciplinary study, the novel Behavioral and Psychological Symptoms of

  9. Students with Down syndrome in primary education in the Netherlands: regular or special? : effects of school placement on the development and the social network of children with Down syndrome and conditions for inclusive education

    OpenAIRE

    de Graaf, Gerrit

    2014-01-01

    Since the 1980s in the Netherlands more and more children with Down syndrome are entering regular schools. Three research questions were explored. 1. What does the development of Down syndrome regular elementary school placement look like expressed in numbers? In chapter 2 and chapter 3, a demographic model for birth and population prevalence of Down syndrome was developed and validated. For the Netherlands, birth prevalence currently is estimated at 14 per 10,000 with around 275 total annual...

  10. Role of Verbal Memory in Reading Text Comprehension of Individuals with Down Syndrome

    Science.gov (United States)

    Levorato, Maria Chiara; Roch, Maja; Florit, Elena

    2011-01-01

    This study analyzed the relationship between verbal memory and reading text comprehension in individuals with Down syndrome. The hypothesis that verbal memory provides unique contribution to reading text comprehension after controlling for verbal skills was tested. Twenty-three individuals with Down syndrome (ages 11 years, 2 months-18 years, 1…

  11. Understanding of Parents and Adults on the Down Syndrome Female Sexual Reproductive Health

    Science.gov (United States)

    Zhagan, Madhya

    2013-01-01

    The purpose of this study is to determine the understanding of reproductive health among parents and female adolescents with Down syndrome. This cross-sectional study involved 22 parents and 22 female adolescents with Down syndrome in Kuala Lumpur, Malaysia. The parents were required to fill up the socio-demographic information in questionnaire…

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

    Science.gov (United States)

    Wark, Stuart; Hussain, Rafat; Parmenter, Trevor

    2014-01-01

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

  13. Direct Acting Antivirals in Patients with Chronic Hepatitis C and Down Syndrome

    Directory of Open Access Journals (Sweden)

    Eric R. Yoo

    2016-01-01

    Full Text Available Patients with Down syndrome who received blood transfusions, likely in conjunction with cardiothoracic surgery for congenital heart disease and prior to the implementation of blood-donor screening for hepatitis C virus infection, face a substantial risk of acquiring the infection. In the past, interferon-based therapy for chronic hepatitis C infection in patients with Down syndrome was noted to have lower efficacy and potentially higher risk of adverse effects. Recently, the treatment for chronic hepatitis C has been revolutionized with the introduction of interferon-free direct acting antivirals with favorable safety, tolerability, and efficacy profile. Based on our experiences, the newly approved sofosbuvir-based direct acting antiviral therapy is well tolerated and highly efficacious in this subpopulation of hepatitis C virus infected patients with Down syndrome.

  14. How Do Health Care Providers Diagnose Down Syndrome?

    Science.gov (United States)

    ... National Human Genome Research Institute. (2010). Learning about Down syndrome . Retrieved June 11, 2012, from http://www.genome.gov/19517824#3 « How many people are affected? What are common treatments? » Related A-Z Topics Intellectual and Developmental Disabilities ( ...

  15. Gestures in Prelinguistic Turkish Children with Autism, Down Syndrome, and Typically Developing Children

    Science.gov (United States)

    Toret, Gokhan; Acarlar, Funda

    2011-01-01

    The purpose of this study was to examine gesture use in Turkish children with autism, Down syndrome, and typically developing children. Participants included 30 children in three groups: Ten children with Down syndrome, ten children with autism between 24-60 months of age, and ten typically developing children between 12-18 months of age.…

  16. A Study of Auditory Preferences in Nonhandicapped Infants and Infants with Down's Syndrome.

    Science.gov (United States)

    Glenn, Sheila M.; And Others

    1981-01-01

    Eleven infants with Down's syndrome and 10 of 11 nonhandicapped infants operated an automatic device which enabled them to choose to listen to nursery rhymes sung or played on musical instruments. Both groups preferred the singing, and the Down's Syndrome infants had much longer response durations for the more complex auditory stimuli. (Author/DB)

  17. Assessment of Prevalence of Persons with Down Syndrome: A Theory-Based Demographic Model

    Science.gov (United States)

    de Graaf, Gert; Vis, Jeroen C.; Haveman, Meindert; van Hove, Geert; de Graaf, Erik A. B.; Tijssen, Jan G. P.; Mulder, Barbara J. M.

    2011-01-01

    Background: The Netherlands are lacking reliable empirical data in relation to the development of birth and population prevalence of Down syndrome. For the UK and Ireland there are more historical empirical data available. A theory-based model is developed for predicting Down syndrome prevalence in the Netherlands from the 1950s onwards. It is…

  18. Relative rather than absolute macroglossia in patients with Down syndrome: implications for treatment of obstructive sleep apnea

    Energy Technology Data Exchange (ETDEWEB)

    Guimaraes, Carolina V.A. [Medical Center, Department of Radiology, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States); Donnelly, Lane F. [Medical Center, Department of Radiology, Cincinnati, OH (United States); Medical Center, Department of Pediatrics, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States); Shott, Sally R. [Medical Center, Division of Otolaryngology, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States); Amin, Raouf S.; Kalra, Maninder [Medical Center, Department of Pediatrics, Cincinnati, OH (United States); Cincinnati Children' s Hospital, OH (United States)

    2008-10-15

    Children with Down syndrome are described as having macroglossia as well as midface hypoplasia. We reviewed anatomic parameters on MRI to determine whether adolescents with Down syndrome have true macroglossia or relatively large tongues compared to the small size of their oral cavity. This has implications for the treatment of obstructive sleep apnea, which occurs at a relatively high rate among patients with Down syndrome. To determine whether adolescents with Down syndrome have relative rather than true macroglossia. On sagittal and axial MR images, parameters for tongue size (area in sagittal midline), the bony craniofacial confines of the retroglossal pharynx (distance between the mandibular rami and distance between the posterior aspect of the mental mandible and the anterior aspect of the spine), and the size of the tongue relative to the craniofacial bony parameters [tongue area/(transverse diameter x anterior-to-posterior diameter)] were compared between 16 patients with Down syndrome and 16 age- and gender-matched controls. The tongue area was significantly smaller in patients with Down syndrome (2,432 mm{sup 2}) than in the control patients (2,767 mm{sup 2}; P=0.02). The craniofacial bony parameters were also smaller in patients with Down syndrome than in the controls (left-right 69.8 vs. 80.1 mm, P<0.001; anterior-posterior 64.2 vs. 74.9 mm, P<0.001). However, the size of the tongue relative to the craniofacial parameters was larger in the patients with Down syndrome (0.54) than in the controls (0.46; P<0.001). Children with Down syndrome do not have true macroglossia but have relatively large tongues compared to the bony confines of the oral cavity. (orig.)

  19. Relative rather than absolute macroglossia in patients with Down syndrome: implications for treatment of obstructive sleep apnea

    International Nuclear Information System (INIS)

    Guimaraes, Carolina V.A.; Donnelly, Lane F.; Shott, Sally R.; Amin, Raouf S.; Kalra, Maninder

    2008-01-01

    Children with Down syndrome are described as having macroglossia as well as midface hypoplasia. We reviewed anatomic parameters on MRI to determine whether adolescents with Down syndrome have true macroglossia or relatively large tongues compared to the small size of their oral cavity. This has implications for the treatment of obstructive sleep apnea, which occurs at a relatively high rate among patients with Down syndrome. To determine whether adolescents with Down syndrome have relative rather than true macroglossia. On sagittal and axial MR images, parameters for tongue size (area in sagittal midline), the bony craniofacial confines of the retroglossal pharynx (distance between the mandibular rami and distance between the posterior aspect of the mental mandible and the anterior aspect of the spine), and the size of the tongue relative to the craniofacial bony parameters [tongue area/(transverse diameter x anterior-to-posterior diameter)] were compared between 16 patients with Down syndrome and 16 age- and gender-matched controls. The tongue area was significantly smaller in patients with Down syndrome (2,432 mm 2 ) than in the control patients (2,767 mm 2 ; P=0.02). The craniofacial bony parameters were also smaller in patients with Down syndrome than in the controls (left-right 69.8 vs. 80.1 mm, P<0.001; anterior-posterior 64.2 vs. 74.9 mm, P<0.001). However, the size of the tongue relative to the craniofacial parameters was larger in the patients with Down syndrome (0.54) than in the controls (0.46; P<0.001). Children with Down syndrome do not have true macroglossia but have relatively large tongues compared to the bony confines of the oral cavity. (orig.)

  20. Is the Good-Imitator-Poor-Talker Profile Syndrome-Specific in Down Syndrome?: Evidence from Standardised Imitation and Language Measures

    Science.gov (United States)

    Vanvuchelen, M.; Feys, H.; De Weerdt, W.

    2011-01-01

    The emergence of the Down syndrome (DS) behavioural phenotype during early development may be of great importance for early intervention. The main goal of this study was to investigate the good-imitator-poor-talker developmental profile in DS at preschool age. Twenty children with Down syndrome (DS; mean nonverbal mental age NMA 1 y10 m) and 15…

  1. A morphometric CT study of Down's syndrome showing small posterior fossa and calcification of basal ganglia

    International Nuclear Information System (INIS)

    Ieshima, A.; Yoshino, K.; Takashima, S.; Takeshita, K.; Kisa, T.

    1984-01-01

    We report characteristic and morphometric changes of cranial computed tomography (CT) with increasing age in 56 patients with Down's syndrome aged from 0 month to 37 years. Patients were compared with 142 normal controls aged 0 to 59 years. Width of ventricles, Sylvian fissures, posterior fossa, pons and cisterna magna were measured on CT. The incidences of the cavum septi pellucidi, cavum vergae and cavum veli interpositi and high density in the basal ganglia were examined. There was high incidence (10.7%) of bilateral calcification of basal ganglia in Down's syndrome, although that of pineal body and choroid plexus calcification was similar in Down's syndrome and controls. Basal ganglia calcification is more frequently seen in young Down's syndrome and may be related to the premature aging characteristic of Down's syndrome. The CT in Down's syndrome showed relatively small posterior fossa, small cerebellum, small brain stem and relatively large Sylvian fissures in those under one year of age. There was a high frequency of midline cava and large cisterna magna. There were no significant atrophic changes on CT except after the fifth decade comparing with controls. (orig.)

  2. Current demand of paediatric otolaryngology input for children with Down's syndrome in a tertiary referral centre.

    Science.gov (United States)

    Khalid-Raja, M; Tzifa, K

    2016-11-01

    This study aimed to evaluate the activity of paediatric otolaryngology services required for children with Down's syndrome in a tertiary referral centre. A review of the paediatric otolaryngology input for children with Down's syndrome was performed; data were obtained from the coding department for a two-year period and compared with other surgical specialties. Between June 2011 and May 2013, 106 otolaryngology procedures were performed on children with Down's syndrome. This compared to 87 cardiac and 81 general paediatrics cases. The most common pathologies in children with Down's syndrome were obstructive sleep apnoea, otitis media, hearing loss and cardiac disease. The most common otolaryngology procedures performed were adenoidectomy, tonsillectomy, grommet insertion and bone-anchored hearing aid implant surgery. ENT manifestations of Down's syndrome are common. Greater provisions need to be made to streamline the otolaryngology services for children and improve transition of care to adult services.

  3. Phonological Processing in CFhildren with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Zahra Soleymani

    2005-06-01

    Full Text Available Objective: To determine phonological processing in elemantery children with Down syndrome Materials and Methods: Phonetic test is used to extract phonological processing in 40 child with Down syndrome .They were normal in hearing and oral structure. Results: There was significant difference between girls and boys in some subgroups of phonological processing. In assimilation, voiceless assimilation in boys and complete assimilation in girls were the most. Nasal assimilation in girls and fricative assimilation in boys were the least. In substitution, the least mean belonged to liquid and nasal substitution in girls and voice ness substitution in boys. In general there was no significant difference between age and phonological awareness; however, there was direct correlation between syllable structure and age and reverse correlation between age and stop assimilation. Conclusion: In addition to 3 groups of phonological processing including: syllable structure, assimilation, and substitution, omission was seen. The difference between girls and boys indicates they are impressed by the phonetic structure of words in different ways. Correlation between age and phonological processing shows phonological errors may be resulted from deviation.

  4. Disability: Down Syndrome and Sexuality

    Directory of Open Access Journals (Sweden)

    Diana ORTIZ QUIROGA

    2017-03-01

    Full Text Available Thirty?four?year?old Daniel is the first European with Down syndrome to have graduated from university. He starts a social services job in Seville, where he meets free?spirited co?worker Laura. They become fast friends, drawing the attention of both their coworkers and families. Their unique relationship becomes problematic when Daniel falls in love with her. But these rebellious souls refuse to bend to the rules and they findfriendship and love as they have never known.

  5. Cross-trimester repeated measures testing for Down's syndrome screening: an assessment.

    LENUS (Irish Health Repository)

    Wright, D

    2010-07-01

    To provide estimates and confidence intervals for the performance (detection and false-positive rates) of screening for Down\\'s syndrome using repeated measures of biochemical markers from first and second trimester maternal serum samples taken from the same woman.

  6. Pain in Down's Syndrome

    Directory of Open Access Journals (Sweden)

    Federica Mafrica

    2006-01-01

    Full Text Available Pain is a homeostatic mechanism that intervenes to protect the organism from harmful stimuli that could damage its integrity. It is made up of two components: the sensory-discriminative component, which identifies the provenance and characteristics of the type of pain; and the affective-motivational component, on which emotional reflexes, following the painful sensation, depend.There is a system for pain control at an encephalic and spinal level, principally made up of the periaqueductal grey matter, the periventricular area, the nucleus raphe magnus, and the pain-inhibition complex situated in the posterior horns of the spinal cord. Through the activation of these pain-control systems, the nervous system suppresses the afference of pain signals. Endogenous opioids represent another analgesic system.In the course of various studies on pain transmission in Down patients, the reduced tolerance of pain and the incapacity to give a qualitative and quantitative description emerged in a powerful way. All of these aspects cause difficulty in evaluating pain. This is linked to several learning difficulties. However, it cannot be excluded that in these anomalies of pain perception, both the anatomical and the neurotransmitter alteration, typical of this syndrome, may hold a certain importance.This fact may have important clinical repercussions that could affect the choice of therapeutic and rehabilitative schemes for treatment of pathologies in which pain is the dominant symptom, such as postoperative pain. It could influence research on analgesics that are more suitable for these patients, the evaluation of the depth of analgesia during surgical operation, and ultimately, absence of obvious pain manifestations. In conclusion, alterations of the central nervous system, neurotransmitters, pain transmission, and all related problems should be considered in the management of pain in patients with Down's syndrome, especially by algologists and

  7. High frequency of celiac disease in Down syndrome

    NARCIS (Netherlands)

    George, E. K.; Mearin, M. L.; Bouquet, J.; von Blomberg, B. M.; Stapel, S. O.; van Elburg, R. M.; de Graaf, E. A.

    1996-01-01

    We screened 115 children with Down syndrome for celiac disease, using antigliadin, antiendomysium, and antireticulin serum antibodies and an intestinal permeability test, Celiac disease was diagnosed in eight children, giving a frequency of 7.0%. We recommend screening for celiac disease in all

  8. High frequency of celiac disease in Down syndrome

    NARCIS (Netherlands)

    George, EK; Mearin, ML; Bouquet, J; vonBlomberg, ME; Stapel, SO; vanElburg, RM; deGraaf, EAB

    We screened 115 children with Down syndrome for celiac disease, using antigliadin, antiendomysium, and antireticulin serum antibodies and an intestinal permeability test, Celiac disease was diagnosed in eight children, giving a frequency of 7.0%. We recommend screening for celiac disease in all

  9. Are the Cognitive Functions of Children with Down Syndrome Related to Their Participation?

    Science.gov (United States)

    Rihtman, Tanya; Tekuzener, Esti; Parush, Shula; Tenenbaum, Alex; Bachrach, Steven J.; Ornoy, Asher

    2010-01-01

    Aim: There is a lack of investigation into the functional developmental profile of children with Down syndrome. On the basis of current international health paradigms, the purpose of this study was to assess the developmental profile of these children. Method: Sixty children (33 males, 27 females) with Down syndrome (age range 6-16y; mean age 9y…

  10. Motivation and learning styles in young children with Down syndrome.

    Science.gov (United States)

    Wishart, J

    2001-10-01

    There are both psychological and biological reasons to expect that certain areas of learning will present young children with Down syndrome with significant problems. Knowledge of the neurological underpinnings of these specific difficulties can often allow compensatory teaching strategies to be put in place, however, and some of these have proved highly effective. The impact of the psychological environment on the progress of development in children with Down syndrome is less well understood. Experience of how others respond to their attempts at understanding the physical and social world and the balance of successes and failures they experience in their early learning are both likely to influence the approach to learning adopted when faced with mastering new skills. Findings from inter-linking studies of cognitive and socio-cognitive development which have explored learning behaviours at different ages and at different developmental stages illustrate how a learning style can sometimes evolve over time in which less than efficient use is made of current levels of cognitive ability. Social ploys are sometimes used to avoid engagement in learning, with the net effect that opportunities to learn new skills are not fully exploited and old skills are sometimes inadequately consolidated. Findings of a misuse of social skills in cognitive contexts do not necessarily provide support for the widely-held view that social understanding is an area of strength in children with Down syndrome and less vulnerable to disruption than cognitive development. Data from a recent study of face-processing abilities suggest that there may in fact be a specific weakness in a fundamental skill normally underpinning the development of social understanding: the ability to recognise differences in emotional expressions. The children with Down syndrome in this study had few problems in correctly identifying individual faces but evidenced difficulties in reliably interpreting the emotional

  11. Association of Down's syndrome and water fluoride level: a systematic review of the evidence

    Directory of Open Access Journals (Sweden)

    McDonagh Marian

    2001-07-01

    Full Text Available Abstract Background A review of the safety and efficacy of drinking water fluoridation was commissioned by the UK Department of Health to investigate whether the evidence supported a beneficial effect of water fluoridation and whether there was any evidence of adverse effects. Down's syndrome was one of the adverse effects reported. The aim of this review is to examine the evidence for an association between water fluoride level and Down's syndrome. Methods A systematic review of research. Studies were identified through a comprehensive literature search, scanning citations and online requests for papers. Studies in all languages which investigated the incidence of Down's syndrome in areas with different levels of fluoride in their water supplies were included. Study inclusion and quality was assessed independently by 2 reviewers. A qualitative analysis was conducted. Results Six studies were included. All were ecological in design and scored poorly on the validity assessment. The estimates of the crude relative risk ranged from 0.84 to 3.0. Four studies showed no significant associations between the incidence of Down's syndrome and water fluoride level and two studies by the same author found a significant (p Conclusions The evidence of an association between water fluoride level and Down's syndrome incidence is inconclusive.

  12. Pain perception in people with Down syndrome: a synthesis of clinical and experimental research

    Science.gov (United States)

    McGuire, Brian E.; Defrin, Ruth

    2015-01-01

    People with an intellectual disability experience both acute and chronic pain with at least the same frequency as the general population. However, considerably less is known about the pain perception of people with Down syndrome. In this review paper, we evaluated the available clinical and experimental evidence. Some experimental studies of acute pain have indicated that pain threshold was higher than normal but only when using a reaction time method to measure pain sensitivity. However, when reaction time is not part of the calculation of the pain threshold, pain sensitivity in people with Down syndrome is in fact lower than normal (more sensitive to pain). Clinical studies of chronic pain have shown that people with an intellectual disability experience chronic pain and within that population, people with Down syndrome also experience chronic pain, but the precise prevalence of chronic pain in Down syndrome has yet to be established. Taken together, the literature suggests that people with Down syndrome experience pain, both acute and chronic, with at least the same frequency as the rest of the population. Furthermore, the evidence suggests that although acute pain expression appears to be delayed, once pain is registered, there appears to be a magnified pain response. We conclude by proposing an agenda for future research in this area. PMID:26283936

  13. Conference Proceedings: “Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks”

    Science.gov (United States)

    Oster-Granite, Mary Lou; Parisi, Melissa A.; Abbeduto, Leonard; Berlin, Dorit S.; Bodine, Cathy; Bynum, Dana; Capone, George; Collier, Elaine; Hall, Dan; Kaeser, Lisa; Kaufmann, Petra; Krischer, Jeffrey; Livingston, Michelle; McCabe, Linda L.; Pace, Jill; Pfenninger, Karl; Rasmussen, Sonja A.; Reeves, Roger H.; Rubinstein, Yaffa; Sherman, Stephanie; Terry, Sharon F.; Whitten, Michelle Sie; Williams, Stephen; McCabe, Edward R.B.; Maddox, Yvonne T.

    2011-01-01

    A December 2010 meeting, “Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks,” was jointly sponsored by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the National Institutes of Health (NIH) in Bethesda, MD, and the Global Down Syndrome Foundation (GDSF)/Linda Crnic Institute for Down Syndrome based in Denver, CO. Approximately 70 attendees and organizers from various advocacy groups, federal agencies (Centers for Disease Control and Prevention, and various NIH Institutes, Centers, and Offices), members of industry, clinicians, and researchers from various academic institutions were greeted by Drs. Yvonne Maddox, Deputy Director of NICHD, and Edward McCabe, Executive Director of the Linda Crnic Institute for Down Syndrome. They charged the participants to focus on the separate issues of contact registries, research databases, and biobanks through both podium presentations and breakout session discussions. Among the breakout groups for each of the major sessions, participants were asked to generate responses to questions posed by the organizers concerning these three research resources as they related to Down syndrome and then to report back to the group at large with a summary of their discussions. This report represents a synthesis of the discussions and suggested approaches formulated by the group as a whole. PMID:21835664

  14. Predicting the presence of sleep-disordered breathing in children with Down syndrome.

    Science.gov (United States)

    Nehme, Joy; LaBerge, Robert; Pothos, Mary; Barrowman, Nick; Hoey, Lynda; Monsour, Andrea; Kukko, Madelaine; Katz, Sherri Lynne

    2017-08-01

    Sleep-disordered breathing (SDB) is highly prevalent in children with Down syndrome. Given the scarcity of resources and the presence of risk factors for SDB in this population, the objective of this study is to identify the clinical predictors of SDB, which would assist prioritization of children with Down syndrome for SDB evaluation. A retrospective cohort study was conducted on children enrolled in the Down syndrome clinic at CHEO who underwent polysomnography in 2004-2014. Total apnea-hypopnea index (AHI) or obstructive AHI (OAHI) > 5 events/hour was considered clinically significant. Associations between SDB and concurrent diagnoses, referral reasons, and sleep symptoms assessed by questionnaire were examined using Pearson's chi-square test or Fisher's exact test as appropriate. Univariate and multivariate logistic regression analyses were used to examine the predictors of SDB. SDB was present in 42.9% of 119 children, with its highest prevalence at age 8 years. Symptoms were not significantly associated with AHI > 5 events/hour or OAHI > 5 events/hour. Gastroesophageal reflux was associated with lower odds of OAHI > 5 events/hour on univariate testing (odds ratio 0.16, 95% CI 0.04-0.72; p = 0.02) and multivariate analysis (odds ratio 0.05, 95% CI 0.0006-0.50; p = 0.002). SDB is highly prevalent at all ages in children with Down syndrome. Symptoms did not predict SDB in this population, although gastroesophageal reflux may mimic SDB, which indicates that clinicians should continue to perform ongoing surveillance for SDB throughout the lifespan of children with Down syndrome. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. Effects of Sampling Context on Spontaneous Expressive Language in Males with Fragile X Syndrome or Down Syndrome

    Science.gov (United States)

    Kover, Sara T.; McDuffie, Andrea; Abbeduto, Leonard; Brown, W. Ted

    2012-01-01

    Purpose: In this study, the authors examined the impact of sampling context on multiple aspects of expressive language in male participants with fragile X syndrome in comparison to male participants with Down syndrome or typical development. Method: Participants with fragile X syndrome (n = 27), ages 10-17 years, were matched groupwise on…

  16. Hippotherapy and respiratory muscle strength in children and adolescents with Down syndrome

    Directory of Open Access Journals (Sweden)

    Valéria Sovat de Freitas Costa

    Full Text Available Introduction Individuals with Down syndrome may have decreased respiratory muscle strength due to hypotonia, a common characteristic in this population. Objective To analyze the effects of a hippotherapy program on respiratory muscle strength in individuals with Down syndrome. Materials and methods The study included 41 subjects, 20 of which were in the hippotherapy practicing group (PG and 21 of which were in the non-practicing group (NPG. Study subjects were of both sexes, aged 7-13 years, and all diagnosed with Down syndrome. A manovacuometer was used to measure respiratory muscle strength, following the protocol proposed by Black and Hyatt (23. Statistical analysis was performed by means of descriptive distribution. After verifying normality and homoscedasticity of the variables, the Mann-Whitney test was used to determine differences between the means of the two groups (PG and NPG, and the Spearman’s rank correlation coefficient test was used to view possible relationships with age and time practicing hippotherapy. Significance was set at p < 0.05. Results and discussion Individuals who practiced hippotherapy showed improvements in both inspiratory and expiratory respiratory muscle strength, although no significant difference was demonstrated. Conclusion This study demonstrates that hippotherapy benefits respiratory muscle strength in individuals with Down syndrome, and that the youngest subjects had the best results.

  17. Oral Rehabilitation with Implant-Retained Overdenture in a Patient with Down Syndrome.

    Science.gov (United States)

    Altintas, Nuray Yilmaz; Kilic, Serdar; Altintas, Subutay Han

    2017-01-24

    Down syndrome, known as trisomy 21, is the most common chromosomal disorder. The disorder affects mental and systemic development as well as oral structure, including dental anomalies, high susceptibility of periodontal disease, and poor quality of alveolar bone. This report presents a case of dental rehabilitation by means of dental implants of a patient with Down syndrome. Two titanium dental implants were placed in the maxilla, and three titanium dental implants were installed in the mandible. One implant was lost during the osseointegration period. The prosthetic rehabilitation was performed with implant-retained maxillary and mandibular overdentures with the Locator attachment system. After a 2-year follow-up period, the patient was doing well, and all implants were clinically stable with no signs of bone loss or inflammation. The present study emphasizes that implant-retained overdentures with Locator attachment system could be a therapeutic option even for patients with Down syndrome. This therapy prevents crestal bone loss around the implants, improves functional and esthetic outcomes, and provides optimum oral hygiene for patients with mild mental impairment. Careful patient selection and education of patients and caregivers are essential considerations for a successful and safe treatment with dental implants in Down syndrome patients. © 2017 by the American College of Prosthodontists.

  18. Memory Performance in Adults with Down Syndrome.

    Science.gov (United States)

    Simon, Elliott W.; And Others

    1995-01-01

    The memory abilities of adults (N=20) with Down Syndrome (DS) were compared to subjects matched on age and IQ and on age alone. Three memory tasks were employed: facial recognition, free recall of pictures and words, and cued recall of separate or interacting pictures. In DS individuals, memory was improved primarily by practice and interactive…

  19. Challenges and outcomes of cholesteatoma management in children with Down syndrome.

    Science.gov (United States)

    Ghadersohi, Saied; Bhushan, Bharat; Billings, Kathleen R

    2018-03-01

    The high incidence of chronic otitis media with effusion and Eustachian tube dysfunction in children with Down syndrome (DS) may predispose them to cholesteatoma formation. Establishing the diagnosis, choosing the appropriate operative intervention, and post-operative care can be challenging. To describe management strategies for cholesteatoma diagnosis, surgical treatment, and post-operative management in children with Down syndrome. Retrospective case series of 14 patients (17 total ears) with Down syndrome diagnosed with cholesteatoma over a 9-year period. A total of 14 patients with cholesteatoma (3 with bilateral disease) were analyzed. Thirteen ears (76.5%) had ≥2 tympanostomy tubes insertions prior to cholesteatoma diagnosis, and otorrhea and hearing loss were the most common presenting symptoms. Common pre-operative CT scan findings included mastoid sclerosis and ossicular erosion. The average age at first surgery was 9.8 years, and the average follow-up was 4.3 years. For acquired cholesteatoma, most ears were managed with canal wall up (CWU) approaches, but ultimately 6/15 (40.0%) required canal wall down (CWD) approaches. Postoperatively, 3 (20.0%) ears developed new tympanic membrane retraction pockets, but no recurrent cholesteatoma. Four (26.7%) ears developed recurrent disease, and 3 (20.0%) had residual disease at secondary procedures. Ossiculoplasty was performed in 4 ears. Twelve (70.6%) ears were rehabilitated with hearing aids or FM systems. The diagnosis of cholesteatoma in Down syndrome was associated with otorrhea, hearing loss, and CT scan findings of ossicular erosion and mastoid sclerosis. Most cases were managed with CWU surgical approaches. Hearing aid use was common post-operatively. Copyright © 2018 Elsevier B.V. All rights reserved.

  20. The effect of rehabilitation exercises on the gait in people with Down syndrome

    Directory of Open Access Journals (Sweden)

    M Marchewka

    2008-12-01

    Full Text Available Objective: The following question was set: Do special exercises decrease disturbances of gait in people with Down syndrome and allow for spacio-temporal parameters closer in values to the variables achieved by healthy people? The research involved 10 persons with Down syndrome, including 9 male pupils and 1 female pupil of the Complex of Special Schools in Cracow, Poland, aged 16-22, with the average age of 17.8±2.69. All the subjects had documented moderate and considerable mental handicap, with the average IQ equalling 37.6±4.29, measured in the Terman-Merrill scale. Background: People with Down syndrome have problems with keeping their balance, both while standing and walking. The dysfunction of lower extremities, manifesting itself in a gait different from the norm of healthy people, releases compensation mechanisms levelling disturbances and leading to unavoidable overloads, and in consequence to the damage of different segments of the locomotor system. Methods: Vicon 250, a computerized system of a three-dimensional analysis of motion, connected with five video cameras working in infrared was implemented to assess the parameters of gait. Results: All the spacio-temporal parameters of gait in people with Down syndrome were significantly improved after the period of rehabilitation, and in the case of step frequency equalled the norm of healthy people. Interpretation. The implementation of additional exercises affects the improvement of the gait parameters of mentally handicapped people, suffering from Down syndrome.

  1. Cephalometrics in children with Down's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Quintanilla, Juan Suarez; Biedma, Benjamin Martin; Rodriguez, Maximino Quintans; Mora, Maria Teresa Jorge; Cunqueiro, Maria Mercedes Suarez; Pazos, Mayte Abeleira [Faculty of Medicine and Dentistry, University of Santiago, San Francisco s/n, 15705 Santiago de Compostela (Spain)

    2002-09-01

    Heading AbstractAims. To describe the craniofacial morphology of a group of patients with Down's syndrome using a cephalometric analysis of the lateral skull radiograph.Materials and methods. The studied sample consisted of 39 patients with Down's syndrome (24 boys, 15 girls) ranging from 7 to 18 years of age. The computerized cephalometric study of the lateral skull radiograph of each patient was carried out using the method described by Ricketts.Results.Anterior cross-bite was observed in 38.4% of patients and diminished interincisal angle in 77%. Skeletal parameters matched the clinical norm, indicating mesofacial biotype, i.e., normal maxillomandibular growth. The lower incisors protruded in 84.6% of the individuals studied and were proinclined in 77%; upper incisors were protruded in 77% of the sample. The lower lip protruded in 84.6%. Analysis of craniofacial parameters showed average values within the clinical norm. Analysis of the inner cranium demonstrated normal inclination of the cranial base, while the length of the anterior skull base was diminished in 53.8%.Conclusions. From the skeletal perspective, patients with Down's syndrome who are in a period of growth demonstrate a reduction of the anterior skull base. From the dentoalveolar perspective, they show protrusion and proinclination of lower incisors, which is related to a tendency to anterior cross-bite and, to a lesser extent, to diminished overbite. Likewise, the lower lip protrusion observed in this study is related to the position of the lower incisor. (orig.)

  2. Demens hos personer med Downs syndrom

    DEFF Research Database (Denmark)

    Salem, Lise Cronberg; Jørgensen, Kasper

    2014-01-01

    In developed countries the population of elderly people with Down syndrome expands resulting in an increasing incidence of age-related diseases, including dementia. The assessment of dementia in individuals with intellectual disability is often complicated due to large intra-individual variability...... in cognitive functioning prior to dementia and to lack of standardised measures to detect dementia. Structured observations of symptoms of dementia and assessment techniques tailored for people with intellectual disability are increasingly needed....

  3. Influence of CHDs on psycho-social and neurodevelopmental outcomes in children with Down syndrome.

    Science.gov (United States)

    Visootsak, Jeannie; Huddleston, Lillie; Buterbaugh, Allison; Perkins, Adrienne; Sherman, Stephanie; Hunter, Jessica

    2016-02-01

    To evaluate the family psycho-social outcomes of children with Down syndrome and atrioventricular septal defect, and examine the impact of these variables on the child's neurodevelopmental outcome. This was a cross-sectional study that consisted of 57 children with Down syndrome - 20 cases and 37 controls - of ~12-14 months of age. In both groups, we assessed the development of the child, the quality of the child's home environment, and parenting stress. Compared with the Down syndrome without CHD group, the atrioventricular septal defect group revealed lower scores in all developmental domains, less optimal home environments, and higher parental stress. Significant differences in development were seen in the areas of cognition (p=0.04), expressive language (p=0.05), and gross motor (pneurodevelopmental deficits. Finding that parental stress and home environment may play a role in the neurodevelopmental outcomes may prompt new family-directed interventions and anticipatory guidance for the families of children with Down syndrome who have a CHD.

  4. Maintenance electroconvulsive therapy for depression with catatonia in a young woman with Down syndrome.

    Science.gov (United States)

    Torr, Jennifer; D'Abrera, Juan Carlos

    2014-12-01

    To describe and discuss the use of maintenance electroconvulsive therapy (ECT) in a young woman with Down syndrome and depression with catatonia. Clinical case report. A 23-year-old woman with Down syndrome (mosaic type) and a 4-year history of depressed mood triggered by adverse life events presented with mutism, psychomotor retardation, and compromised oral intake. Multiple trials of antidepressant medications were either ineffective or complicated by adverse reactions. She improved rapidly with a course of bilateral ECT but required maintenance ECT to sustain recovery. A series of premorbid, morbid, and post-treatment drawings by the young woman highlight the efficacy of treatment. Electroconvulsive therapy was found to be a safe and effective treatment for life-threatening mental illness in a young woman with Down syndrome who had failed multiple trials of antidepressant medications. This case highlights the importance of considering catatonia as a diagnosis in persons with Down syndrome and the effectiveness of electroconvulsive treatment.

  5. Parent Stress and Perceptions of Language Development: Comparing Down Syndrome and Other Developmental Disabilities

    Science.gov (United States)

    Smith, Ashlyn L.; Romski, MaryAnn; Sevcik, Rose A.; Adamson, Lauren B.; Barker, R. Michael

    2013-01-01

    This study extended research on the Down syndrome advantage by examining differences in parent stress and parent perceptions of language development between 29 parents of young children with Down syndrome and 82 parents of children with other developmental disabilities. Parents of children with Down syndrome reported lower levels of total stress, child-related stress, and stress surrounding the parent-child interaction. Parents of children in both groups reported that they felt successful in their ability to impact their children’s communication development but did differ on perceptions of difficulty such that parents of children with Down syndrome perceived their children’s communication difficulties as less severe despite the children exhibiting similar language skills. Finally, after accounting for potential explanatory confounding variables, child diagnosis remained a significant predictor of parent stress and perceptions of language development. Results highlight the importance of considering etiology when assisting families raising a child with a disability. PMID:24753637

  6. Basal ganglia calcification on CT in adult patients with Down's syndrome

    International Nuclear Information System (INIS)

    Ono, Yoshiro; Yoshida, Hironobu; Yoshimasu, Fumio; Higashi, Yuji.

    1987-01-01

    Fourteen adult cases with Down's syndrome were examined on cranial CT scan, and 5 of them (35.7 %) showed basal ganglia calcification (BGC). The incidence of BGC in the present cases was very high in comparison with the one in general population (0.3 ∼ 1.5 %). Abnormalities of calcium metabolism or dysfunctions of the basal ganglia were absent in each case with BGC. Calcifications were exclusively located in globus pallidus. It is considered that BGC found in the present cases may be due to the premature aging process in Down's syndrome. (author)

  7. Responsiveness of the Test of Basic Motor Skills of Children with Down Syndrome

    Science.gov (United States)

    van den Heuvel, Marieke E.; de Jong, Inge; Lauteslager, Peter E. M.; Volman, M. J. M.

    2009-01-01

    The aim of this study was to examine the responsiveness of the Test of Basic Motor Skills for Children with Down Syndrome (BMS). Forty-one children with Down Syndrome, 3 to 36 months of age, participated in the study. Gross motor skills were assessed three times using the BMS and the Gross Motor Function Measure (GMFM) before and after a baseline…

  8. Acute neuropsychiatric disorders in adolescents and young adults with Down syndrome: Japanese case reports

    Directory of Open Access Journals (Sweden)

    Akahoshi K

    2012-07-01

    Full Text Available Keiko Akahoshi,1 Hiroshi Matsuda,2 Masuko Funahashi,1 Tomoyuki Hanaoka,3 Yasuyuki Suzuki11Department of Pediatrics, Tokyo Children’s Rehabilitation Hospital, Tokyo; 2Department of Nuclear Medicine, Saitama Medical University, International Medical Center, Saitama; 3Department of Pediatrics, Bihoro Rehabilitation Hospital, Hokkaido, JapanBackground: The aim of this study was to evaluate acute neuropsychiatric disorders in adolescents and young adults with Down syndrome. We report 13 Japanese adolescents or young adults with Down syndrome who developed acute neuropsychiatric disorders including withdrawal, depression, obsessive-compulsive behaviors, and occasional delusions or hallucinations.Methods: The following information was collected from each patient: age at onset of acute neuropsychiatric disorder, complications, signs and symptoms, personality traits before the onset of the acute neuropsychiatric disorder, prescribed medications with their respective doses and the response to treatment, and senile changes observed on magnetic resonance imaging or computed tomography.Results: The mean age at onset of these disorders was 21.2 years. Brain imaging showed almost senile changes; patients responded well to low-dose psychotropic therapy. Patients had an onset at a young age and presented with treatable conditions, although the average age of the onset of Alzheimer’s disease is generally over 40 years of age in patients with Down syndrome.Conclusion: These findings suggest that the pathology of acute neuropsychiatric disorder in patients with Down syndrome may be related to presenile changes; however, these disorders present features and a clinical course that is different from those presented in typical Alzheimer’s disease with Down syndrome.Keywords: Down syndrome, acute neuropsychiatric disorders, Alzheimer’s disease

  9. Therapeutic Efficacy and Safety of GH in Japanese Children with Down Syndrome Short Stature Accompanied by GH Deficiency.

    Science.gov (United States)

    Meguri, Kyoko; Inoue, Masaru; Narahara, Koji; Sato, Takahiro; Takata, Ami; Ohki, Nobuhiko; Ozono, Keiichi

    2013-10-01

    In this study, we investigated the effects of GH treatment in children with Down syndrome who had been diagnosed with GH deficiency (GHD). A total of 20 subjects were investigated in this study. Fourteen Down syndrome children (5 boys and 9 girls) with short stature due to GHD were treated with GH at Okayama Red Cross General Hospital, and 6 Down syndrome children (4 boys and 2 girls) with short stature due to GHD were registered in the Pfizer International Growth Database (KIGS). Height SD score (SDS) increased throughout the three-year GH treatment period. The overall mean height SDS increased from -3.5 at baseline to -2.5 after 3 yr of treatment. The mean change in height SDS during these 3 yr was 1.1. In addition, height assessment of SD score based on Down syndrome-specific growth data in the Japanese population revealed that the height SDS (Down syndrome) also increased across the 3-yr GH treatment period. The mean change in height SDS (Down syndrome) during these three years was 1.3. GH therapy was effective for Down syndrome short stature accompanied by GHD, and no new safety concerns were found in this study.

  10. Maternal and paternal pragmatic speech directed to young children with Down syndrome and typical development.

    Science.gov (United States)

    de Falco, Simona; Venuti, Paola; Esposito, Gianluca; Bornstein, Marc H

    2011-02-01

    The aim of this study was to compare functional features of maternal and paternal speech directed to children with Down syndrome and developmental age-matched typically developing children. Altogether 88 parents (44 mothers and 44 fathers) and their 44 young children (22 children with Down syndrome and 22 typically developing children) participated. Parents' speech directed to children was obtained through observation of naturalistic parent-child dyadic interactions. Verbatim transcripts of maternal and paternal language were categorized in terms of the primary function of each speech unit. Parents (both mothers and fathers) of children with Down syndrome used more affect-salient speech compared to parents of typically developing children. Although parents used the same amounts of information-salient speech, parents of children with Down syndrome used more direct statements and asked fewer questions than did parents of typically developing children. Concerning parent gender, in both groups mothers used more language than fathers and specifically more descriptions. These findings held controlling for child age and MLU and family SES. This study highlights strengths and weaknesses of parental communication to children with Down syndrome and helps to identify areas of potential improvement through intervention. Copyright © 2010 Elsevier Inc. All rights reserved.

  11. Maternal serum markers in screening for Down syndrome

    DEFF Research Database (Denmark)

    Nørgaard-Pedersen, B; Larsen, S O; Arends, J

    1990-01-01

    The addition of two new markers in maternal serum, estriol and HCG, to those already known, namely the level of maternal serum alfa-fetoprotein and maternal age, considerably improves the expected results of a screening strategy for Down syndrome. The detection rate is slightly increased from 53....

  12. Acute lymphoblastic leukemia in children with Down syndrome

    DEFF Research Database (Denmark)

    Buitenkamp, Trudy D; Izraeli, Shai; Zimmermann, Martin

    2014-01-01

    Children with Down syndrome (DS) have an increased risk of B-cell precursor (BCP) acute lymphoblastic leukemia (ALL). The prognostic factors and outcome of DS-ALL patients treated in contemporary protocols are uncertain. We studied 653 DS-ALL patients enrolled in 16 international trials from 1995...

  13. Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.

    Science.gov (United States)

    Couser, Natario L; Marchuk, Daniel S; Smith, Laurie D; Arreola, Alexandra; Kaiser-Rogers, Kathleen A; Muenzer, Joseph; Pandya, Arti; Gucsavas-Calikoglu, Muge; Powell, Cynthia M

    2017-10-01

    Mitochondrial DNA depletion syndrome 5 (MIM 612073) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the beta subunit of the succinate-CoA ligase gene located within the 13q14 band. We describe two siblings of Hispanic descent with SUCLA2-related mitochondrial depletion syndrome (encephalomyopathic form with methylmalonic aciduria); the older sibling is additionally affected with trisomy 21. SUCLA2 sequencing identified homozygous p.Arg284Cys pathogenic variants in both patients. This mutation has previously been identified in four individuals of Italian and Caucasian descent. The older sibling with concomitant disease has a more severe phenotype than what is typically described in patients with either SUCLA2-related mitochondrial depletion syndrome or Down syndrome alone. The younger sibling, who has a normal female chromosome complement, is significantly less affected compared to her brother. While the clinical and molecular findings have been reported in about 50 patients affected with a deficiency of succinate-CoA ligase caused by pathogenic variants in SUCLA2, this report describes the first known individual affected with both a mitochondrial depletion syndrome and trisomy 21. © 2017 Wiley Periodicals, Inc.

  14. Emotion Recognition in Children with Down Syndrome: Influence of Emotion Label and Expression Intensity

    Science.gov (United States)

    Cebula, Katie R.; Wishart, Jennifer G.; Willis, Diane S.; Pitcairn, Tom K.

    2017-01-01

    Some children with Down syndrome may experience difficulties in recognizing facial emotions, particularly fear, but it is not clear why, nor how such skills can best be facilitated. Using a photo-matching task, emotion recognition was tested in children with Down syndrome, children with nonspecific intellectual disability and cognitively matched,…

  15. Implicit theories concerning the intelligence of individuals with Down syndrome.

    Directory of Open Access Journals (Sweden)

    Claire Enea-Drapeau

    Full Text Available Studies over the past three decades have shown that learning difficulties are not only determined by neurological disorders, but also by motivational and/or socio-cognitive factors Among these factors, implicit theories of intelligence (also referred to as conceptions, mindsets or beliefs about intelligence are key elements. The belief that intelligence is fixed (entity theory, as opposed to malleable (incremental theory, is generally associated with negative teaching practices and poorer student outcomes, yet beliefs about the intelligence of individuals with intellectual disabilities have not received much attention. We propose the first study on conceptions of intelligence of persons with intellectual disabilities, here people with Down syndrome. Participants were 55 professionally qualified people working with individuals with intellectual disabilities and 81 adults from the community. We compared what both groups of participants believe about intelligence of typical people and what they believe about the intelligence of individuals with Down syndrome. We also investigated implicit theories of intelligence as predictors of explicit judgments about intelligence and implicit attitudes toward people with Down syndrome. Whatever the work experience in the field of intellectual disability, implicit theories of intelligence were found to be less incremental when considering people with Down syndrome than when considering typical people; and the stronger the belief in entity theory, the more negative (and less positive the judgments expressed explicitly. Implicit theories of intelligence were also found to be predictors of negative implicit attitude but only in adults from the community. These findings offer prospects for improving practices by people working in the field of intellectual disability. They might interest a wide range of people caring for people with intellectual disabilities, such as teachers, but also other professional caregivers

  16. Implicit theories concerning the intelligence of individuals with Down syndrome.

    Science.gov (United States)

    Enea-Drapeau, Claire; Carlier, Michèle; Huguet, Pascal

    2017-01-01

    Studies over the past three decades have shown that learning difficulties are not only determined by neurological disorders, but also by motivational and/or socio-cognitive factors Among these factors, implicit theories of intelligence (also referred to as conceptions, mindsets or beliefs about intelligence) are key elements. The belief that intelligence is fixed (entity theory), as opposed to malleable (incremental theory), is generally associated with negative teaching practices and poorer student outcomes, yet beliefs about the intelligence of individuals with intellectual disabilities have not received much attention. We propose the first study on conceptions of intelligence of persons with intellectual disabilities, here people with Down syndrome. Participants were 55 professionally qualified people working with individuals with intellectual disabilities and 81 adults from the community. We compared what both groups of participants believe about intelligence of typical people and what they believe about the intelligence of individuals with Down syndrome. We also investigated implicit theories of intelligence as predictors of explicit judgments about intelligence and implicit attitudes toward people with Down syndrome. Whatever the work experience in the field of intellectual disability, implicit theories of intelligence were found to be less incremental when considering people with Down syndrome than when considering typical people; and the stronger the belief in entity theory, the more negative (and less positive) the judgments expressed explicitly. Implicit theories of intelligence were also found to be predictors of negative implicit attitude but only in adults from the community. These findings offer prospects for improving practices by people working in the field of intellectual disability. They might interest a wide range of people caring for people with intellectual disabilities, such as teachers, but also other professional caregivers, and other

  17. Age and Pattern of Intellectual Decline among Down Syndrome and Other Mentally Retarded Adults.

    Science.gov (United States)

    Gibson, David; And Others

    1988-01-01

    A study of 18 Down Syndrome and 18 other mentally retarded adults found evidence of a significant erosion of Wechsler Intelligence Scale for Children scores from the third to fourth decades of life. The Block Design subtest was especially vulnerable to performance decline with age in the Down Syndrome adults. (Author/JDD)

  18. Stuttering Treatment for a School-Age Child with Down Syndrome: A Descriptive Case Report

    Science.gov (United States)

    Harasym, Jessica; Langevin, Marilyn

    2012-01-01

    Background: Little is known about optimal treatment approaches and stuttering treatment outcomes for children with Down syndrome. Aims and method: The purpose of this study was to investigate outcomes for a child with Down syndrome who received a combination of fluency shaping therapy and parent delivered contingencies for normally fluent speech,…

  19. Leisure Activity and Caregiver Involvement in Middle-Aged and Older Adults with Down Syndrome

    Science.gov (United States)

    Mihaila, Iulia; Hartley, Sigan L.; Handen, Benjamin L.; Bulova, Peter D.; Tumuluru, Rameshwari V.; Devenny, Darlynne A.; Johnson, Sterling C.; Lao, Patrick J.; Christian, Bradley, T.

    2017-01-01

    The present study examined leisure activity and its association with caregiver involvement (i.e., residence and time spent with primary caregiver) in 62 middle-aged and older adults with Down syndrome (aged 30-53 years). Findings indicated that middle-aged and older adults with Down syndrome frequently participated in social and passive leisure…

  20. Mental Health Problems in Adults with Down Syndrome and Their Association with Life Circumstances

    Science.gov (United States)

    Mallardo, Mariarosa; Cuskelly, Monica; White, Paul; Jobling, Anne

    2014-01-01

    This study focused on current life circumstances, previous life events, and engagement with productive and enjoyable activities. It examined the association of these variables with mental health problems and mood in a cohort of young adults with Down syndrome. Participants were 49 adults with Down syndrome (age range 20-31 years) and their…

  1. Core vocabulary of young children with Down syndrome

    NARCIS (Netherlands)

    Deckers, S.R.J.M.; Zaalen, Y. van; Balkom, L.J.M. van; Verhoeven, L.T.W.

    2017-01-01

    The aim of this study was to develop a core vocabulary list for young children with intellectual disabilities between 2 and 7 years of age because data from this population are lacking in core vocabulary literature. Children with Down syndrome are considered one of the most valid reference groups

  2. The effect of induced abortion on the incidence of Down's syndrome in Hawaii.

    Science.gov (United States)

    Smith, R G; Gardner, R W; Steinhoff, P; Chung, C S; Palmore, J A

    1980-01-01

    There was a decrease in the recorded number of cases and in the incidence rate of Down's syndrome in Hawaii between 1963-1969 and 1971-1977. Independent of all other factors, induced abortion accounted for 43 percent of the decline in the number of cases, based on the assumption that a substantial number of clandestine abortions were being performed in Hawaii before the 1970 legalization of abortion. However, if we assume that very few illegal abortions were performed prior to 1970, there would have been an actual 3.5 percent increase in the number of cases of Down's syndrome in the absence of legal abortion. Declining pregnancy rates and decreasing age-specific incidence rates of Down's syndrome also contributed to the drop in the number of cases between 1963-1969 and 1971-1977.

  3. Milia-like idiopathic calcinosis cutis in a child with Down syndrome.

    Science.gov (United States)

    Kumar, Piyush; Savant, Sushil S; Nimisha, Esther; Das, Anupam; Debbarman, Panchami

    2016-05-15

    Idiopathic calcinosis cutis refers to progressive deposition of crystals of calcium phosphate in the skin and other areas of the body, in the absence of any inciting factor. Idiopathic calcinosis cutis may sometimes take the form of small, milia-like lesions. Most commonly, such milia like lesions are seen in the setting of Down syndrome. Herein, we report a 5-year-old girl with multiple asymptomatic discrete milia-like firm papules distributed over the face and extremities. A diagnosis of milia-like idiopathic calcinosis cutis associated with Down Syndrome was provisionally made and was confirmed by histopathology and karyotyping.

  4. Perceived risk of prenatal diagnostic procedure-related miscarriage and Down syndrome among pregnant women.

    Science.gov (United States)

    Caughey, Aaron B; Washington, A Eugene; Kuppermann, Miriam

    2008-03-01

    The objective of the study was to identify correlates of perceived risk of carrying a Down syndrome-affected fetus or experiencing a procedure-related miscarriage among a diverse group of pregnant women. We conducted a cross-sectional survey of 1081 English-, Spanish-, or Chinese-speaking women receiving prenatal care in the San Francisco Bay area. Perceived risk of procedure-related miscarriage or carrying a Down syndrome-affected fetus was assessed using a linear rating scale from 0 (no risk) to 1 (high risk). Bivariate and multivariable analyses were used to explore associations between maternal characteristics including age, race/ethnicity, and socioeconomic status and perceived risks of carrying a Down syndrome-affected fetus or experiencing a procedure-related miscarriage. Women aged 35 years old or older had a higher perceived risk of Down syndrome than younger women (0.28 vs 0.22 on a scale from 0 to 1, P self-perceived health status (+0.08, P = .045). Latinas (+0.11, P = .008), women with an annual income less than $35,000 (+0.09, P = .003), and those who had difficulty conceiving (+0.09, P = .026) had higher perceived procedure-related miscarriage risk. Among women aged 35 years or older, perceived risk of carrying a Down syndrome-affected fetus was associated with the inclination to undergo prenatal diagnosis. Women's perceived risks of carrying a Down syndrome-affected fetus or having a procedure-related miscarriage are associated with numerous characteristics that have not been shown to be associated with the actual risks of these events. These perceived risks are associated with prenatal diagnostic test inclination. Understanding patients' risk perceptions and effectively communicating risk is critical to helping patients make informed decisions regarding use of invasive prenatal testing.

  5. Convergent validity of actigraphy with polysomnography and parent reports when measuring sleep in children with Down syndrome.

    Science.gov (United States)

    Esbensen, A J; Hoffman, E K; Stansberry, E; Shaffer, R

    2018-04-01

    There is a need for rigorous measures of sleep in children with Down syndrome as sleep is a substantial problem in this population and there are barriers to obtaining the gold standard polysomnography (PSG). PSG is cost-prohibitive when measuring treatment effects in some clinical trials, and children with Down syndrome may not cooperate with undergoing a PSG. Minimal information is available on the validity of alternative methods of assessing sleep in children with Down syndrome, such as actigraphy and parent ratings. Our study examined the concurrent and convergent validity of different measures of sleep, including PSG, actigraphy and parent reports of sleep among children with Down syndrome. A clinic (n = 27) and a community (n = 47) sample of children with Down syndrome were examined. In clinic, children with Down syndrome wore an actigraph watch during a routine PSG. In the community, children with Down syndrome wore an actigraph watch for a week at home at night as part of a larger study on sleep and behaviour. Their parent completed ratings of the child's sleep during that same week. Actigraph watches demonstrated convergent validity with PSG when measuring a child with Down syndrome's total amount of sleep time, total wake time after sleep onset and sleep period efficiency. In contrast, actigraph watches demonstrated poor correlations with parent reports of sleep, and with PSG when measuring the total time in bed and total wake episodes. Actigraphy, PSG and parent ratings of sleep demonstrated poor concurrent validity with clinical diagnosis of obstructive sleep apnoea. Our current data suggest that actigraph watches demonstrate convergent validity and are sensitive to measuring certain sleep constructs (duration, efficiency) in children with Down syndrome. However, parent reports, such as the Children's Sleep Habits Questionnaire, may be measuring other sleep constructs. These findings highlight the importance of selecting measures of sleep related to

  6. Coenzyme Q10 and pro-inflammatory markers in children with Down syndrome: clinical and biochemical aspects.

    Science.gov (United States)

    Zaki, Moushira E; El-Bassyouni, Hala T; Tosson, Angie M S; Youness, Eman; Hussein, Jihan

    Evidence of oxidative stress was reported in individuals with Down syndrome. There is a growing interest in the contribution of the immune system in Down syndrome. The aim of this study is to evaluate the coenzyme Q10 and selected pro-inflammatory markers such as interleukin 6 and tumor necrosis factor α in children with Down syndrome. Eighty-six children (5-8 years of age) were enrolled in this case-control study from two public institutions. At the time of sampling, the patients and controls suffered from no acute or chronic illnesses and received no therapies or supplements. The levels of interleukin 6, tumor necrosis factor α, coenzyme Q10, fasting blood glucose, and intelligence quotient were measured. Forty-three young Down syndrome children and forty-three controls were included over a period of eight months (January-August 2014). Compared with the control group, the Down syndrome patients showed significant increase in interleukin 6 and tumor necrosis factor α (p=0.002), while coenzyme Q10 was significantly decreased (p=0.002). Also, body mass index and fasting blood glucose were significantly increased in patients. There was a significantly positive correlation between coenzyme Q10 and intelligence quotient levels, as well as between interleukin 6 and tumor necrosis factor α. Interleukin 6 and tumor necrosis factor α levels in young children with Down syndrome may be used as biomarkers reflecting the neurodegenerative process in them. Coenzyme Q10 might have a role as a good supplement in young children with Down syndrome to ameliorate the neurological symptoms. Copyright © 2016 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  7. Coenzyme Q10 and pro-inflammatory markers in children with Down syndrome: clinical and biochemical aspects

    Directory of Open Access Journals (Sweden)

    Moushira E. Zaki

    Full Text Available Abstract: Objective: Evidence of oxidative stress was reported in individuals with Down syndrome. There is a growing interest in the contribution of the immune system in Down syndrome. The aim of this study is to evaluate the coenzyme Q10 and selected pro-inflammatory markers such as interleukin 6 and tumor necrosis factor α in children with Down syndrome. Methods: Eighty-six children (5-8 years of age were enrolled in this case-control study from two public institutions. At the time of sampling, the patients and controls suffered from no acute or chronic illnesses and received no therapies or supplements. The levels of interleukin 6, tumor necrosis factor α, coenzyme Q10, fasting blood glucose, and intelligence quotient were measured. Results: Forty-three young Down syndrome children and forty-three controls were included over a period of eight months (January-August 2014. Compared with the control group, the Down syndrome patients showed significant increase in interleukin 6 and tumor necrosis factor α (p = 0.002, while coenzyme Q10 was significantly decreased (p = 0.002. Also, body mass index and fasting blood glucose were significantly increased in patients. There was a significantly positive correlation between coenzyme Q10 and intelligence quotient levels, as well as between interleukin 6 and tumor necrosis factor α. Conclusion: Interleukin 6 and tumor necrosis factor α levels in young children with Down syndrome may be used as biomarkers reflecting the neurodegenerative process in them. Coenzyme Q10 might have a role as a good supplement in young children with Down syndrome to ameliorate the neurological symptoms.

  8. Symbolic interactionism: a perspective for understanding parent-nurse interactions following the birth of a child with Down syndrome.

    Science.gov (United States)

    van Riper, M; Pridham, K; Ryff, C

    1992-01-01

    The birth of a child with Down syndrome is a challenge to parental and societal expectations. Feelings of shock, sadness, confusion, denial, fear, anger, guilt, and helplessness may be evoked. In this paper, the impact of stigma on individuals with Down syndrome and their families will be reviewed to clarify why interactions between parents and others need to be explored. Next, the central concepts important to the symbolic interactionist perspective will be reviewed. Then, qualitative data from an ongoing study of 90 parents of children with Down syndrome (ages 3 months to 18 years) will be presented to illustrate how symbolic interactionism can be applied to the to care of children with Down syndrome and their families. Finally, implications for nurses working with families that include a child with Down syndrome will be addressed.

  9. Moyamoya disease and sagittal sinus thrombosis in a child with Down's syndrome

    International Nuclear Information System (INIS)

    Del-Rio Camacho, G.; Leal Orozco, A.; Camino Lopez, M.; Ruiz-Moreno, M.; Perez-Higueras, A.; Al-Assir, I.

    2001-01-01

    A girl with Down's syndrome, moyamoya disease and sagittal sinus thrombosis is described. She was diagnosed after acute neurological deterioration by MRI and angiography. Recombinant tissue plasminogen activator (r-TPA) was injected locally to recanalise the thrombus. The patient's condition significantly improved and she was discharged. After 2 years of follow-up the child remains asymptomatic. Moyamoya syndrome and cerebral venous thrombosis should not be overlooked as a cause of acute neurological deterioration in a child with Down's syndrome. MRA appears to be a safe and accurate alternative to traditional angiography for the diagnosis of moyamoya disease. Local fibrinolysis with r-TPA is the treatment of choice for cerebral venous thrombosis due to its safety and efficacy. (orig.)

  10. Deficiency of the vestibular spine in atrioventricular septal defects in human fetuses with down syndrome

    NARCIS (Netherlands)

    Blom, Nico A.; Ottenkamp, Jaap; Wenink, Arnold G. C.; Gittenberger-de Groot, Adriana C.

    2003-01-01

    Data on the morphogenesis of atrioventricular septal defect (AVSD) in Down syndrome are lacking to support molecular studies on Down syndrome heart critical region. Therefore, we studied the development of complete AVSD in human embryos and fetuses with trisomy 21 using 3-dimensional graphic

  11. Problem behavior of individuals with down syndrome in a nationwide cohort assessed in late adolescence

    NARCIS (Netherlands)

    Gameren-Oosterom, H.B.M.; Fekkes, M.; Wouwe, J.P. van; Detmar, S.B.; Oudesluys-Murphy, A.M.; Verkerk, P.H.

    2013-01-01

    OBJECTIVE: To assess problem behavior in adolescents with Down syndrome and examine the association with sex and severity of intellectual disability. STUDY DESIGN: Cross-sectional data of a Dutch nationwide cohort of Down syndrome children aged 16-19 years were collected using a written parental

  12. Psychosis and Silent Celiac Disease in a Down Syndrome Adolescent: A Case Report

    Directory of Open Access Journals (Sweden)

    Amparo Morant

    2011-01-01

    Full Text Available Celiac disease is an autoimmune systemic disorder. It presents gastrointestinal and nongastrointestinal manifestations as well as associated conditions. We report a 16-year-old Down syndrome girl who presented psychosis symptomatology, and she was diagnosed as having silent celiac disease. Olanzapine treatment and gluten-free diet were satisfactory. It is necessary to consider celiac disease in Down syndrome patients with psychiatric symptoms, mainly psychotic symptomatology.

  13. Parenting of children with Down syndrome compared to fragile X syndrome.

    Science.gov (United States)

    Sterling, Audra; Warren, Steven F

    2018-01-01

    Children with Down syndrome (DS) and fragile X syndrome (FXS) struggle with language development. Parenting variables, such as responsiveness to children's communication attempts (Maternal Responsivity), and techniques used to support and teach appropriate behavior (Behavior Management) are known to have a significant impact on early child development. We examined these two aspects of parenting style via coded, videotaped parent-child interactions in two groups of participants matched on child age (2-5 years) and child expressive language level: mothers of children with DS and mothers of children with FXS. The mothers differed in their use of gestures and redirecting the child's attention. Overall, mothers in both groups of children appeared to adapt appropriately to their children's developmental needs.

  14. Evidence for preserved novel word learning in Down syndrome suggests multiple routes to vocabulary acquisition.

    Science.gov (United States)

    Mosse, Emma K; Jarrold, Christopher

    2011-08-01

    Three studies investigated novel word learning, some requiring phonological production, each involving between 11 and 17 individuals with Down syndrome, and between 15 and 24 typically developing individuals matched for receptive vocabulary. The effect of stimuli wordlikeness and incidental procedure-based memory demands were examined to see whether these may account for an apparent impairment in word learning in Down syndrome demonstrated in earlier research. Paired associate word and nonword learning tasks were presented, requiring participants to learn the names of novel characters. The nonword stimuli varied in the degree of wordlikeness in 2 studies. A third study investigated extraneous task demand. Across 3 studies, there was no suggestion of a word learning deficit associated with Down syndrome (η(2)(p) for the main effect of group of .03, .11, and .03, respectively), despite the level of phonological representation required. There was evidence that novel word learning by participants with Down syndrome exceeded that which their verbal short-term memory capacity would predict. Vocabulary acquisition in Down syndrome may not rely on verbal short-term memory to the same extent as in typically developing children, lending support to the suggestion that new word learning may be underpinned by an additional memory process.

  15. Trends and geographic inequalities in the prevalence of Down syndrome in Europe, 1980-1999.

    Science.gov (United States)

    Dolk, H; Loane, M; Garne, E; De Walle, H; Queisser-Luft, A; De Vigan, C; Addor, M C; Gener, B; Haeusler, M; Jordan, H; Tucker, D; Stoll, C; Feijoo, M; Lillis, D; Bianchi, F

    2005-11-01

    EUROCAT is a network of population-based registries for the epidemiologic surveillance of congenital anomalies covering approximately one quarter of births in the European Union. Down syndrome constitutes approximately 8% of cases of registered congenital anomaly in Europe, with over 7000 affected pregnancies in the 15 current member states of the European Union each year. In this paper, we aim to examine trends in the live birth prevalence of Down syndrome in Europe in the light of trends in maternal age and in prenatal diagnosis. Descriptive analysis of data from 24 EUROCAT registries, covering 8.3 million births 1980-99. Cases include live births, stillbirths and terminations of pregnancy following prenatal diagnosis. Since 1980, the proportion of births to mothers of 35 years of age and over has risen quite dramatically from 8 to 14% for the European Union as a whole, with steeper rises in some regions. By 1995-1999, the proportion of "older" mothers varied between regions from 10% to 25%, and the total prevalence (including terminations of pregnancy) of Down syndrome varied from 1 to 3 per 1000 births. Some European regions have shown a more than twofold increase in total prevalence of Down syndrome since 1980. The proportion of cases of Down syndrome which were prenatally diagnosed followed by termination of pregnancy in 1995-1999 varied from 0% in the three regions of Ireland and Malta where termination of pregnancy is illegal, to less than 50% in 14 further regions, to 77% in Paris. The extent to which terminations of pregnancy were concen trated among older mothers varied between regions. The live birth prevalence has since 1980 increasingly diverged from the rising total prevalence, in some areas remaining approximately stable, in others decreasing over time. The rise in average maternal age in Europe has brought with it an increase in the number of pregnancies affected by Down syndrome. The widespread practice of prenatal screening and termination of

  16. Articulation and Noncomprehension Signaling in Adolescent and Adult Males with Down Syndrome and Fragile X Syndrome

    Science.gov (United States)

    Fedak, Larissa Ann

    2012-01-01

    The purpose of this study was to determine whether or not decreased articulation of speech played a role in the ability of an individual with Down syndrome or Fragile X syndrome to signal noncomprehension and whether the two groups differed in their levels of articulation of speech and noncomprehension signaling ability. The research was conducted…

  17. Clinical abnormalities, early intervention program of Down syndrome children: Queen Sirikit National Institute of Child Health experience.

    Science.gov (United States)

    Fuengfoo, Adidsuda; Sakulnoom, Kim

    2014-06-01

    Queen Sirikit National Institute of Child Health is a tertiary institute of children in Thailand, where early intervention programs have been provided since 1990 by multidisciplinary approach especially in Down syndrome children. This aim of the present study is to follow the impact of early intervention on the outcome of Down syndrome children. The school attendance number of Down syndrome children was compared between regular early intervention and non-regular early intervention. The present study group consists of 210 Down syndrome children who attended early intervention programs at Queen Sirikit National Institute of Child Health between June 2008 and January 2012. Data include clinical features, school attendance developmental quotient (DQ) at 3 years of age using Capute Scales Cognitive Adaptive Test/Scale (CAT/CLAMS). Developmental milestones have been recorded as to the time of appearance of gross motor, fine motor, language, personal-social development compared to those non-regular intervention patients. Of 210 Down syndrome children, 117 were boys and 93 were girls. About 87% received regular intervention, 68% attended speech training. Mean DQ at 3 years of age was 65. Of the 184 children who still did follow-up at developmental department, 124 children (59%) attended school: mainstream school children 78 (63%) and special school children 46 (37%). The mean age at entrance to school was 5.8 ± 1.4 years. The school attendance was correlated with maternal education and regular early intervention attendance. Regular early intervention starts have proven to have a positive effect on development. The school attendance number of Down syndrome children receiving regular early intervention was statistically and significantly higher than the number of Down syndrome children receiving non-regular early intervention was. School attendance correlated with maternal education and attended regularly early intervention. Regular early intervention together with maternal

  18. Aging With Down Syndrome: The Dual Diagnosis: Alzheimer's Disease and Down Syndrome.

    Science.gov (United States)

    Cipriani, Gabriele; Danti, Sabrina; Carlesi, Cecilia; Di Fiorino, Mario

    2018-06-01

    People with Down syndrome (DS) enjoy a longer life expectancy now than they ever have before and are therefore at greater risk of developing conditions associated with aging, including dementia. To explore the phenomenon of dementia in DS. Medline and Google Scholar searches were conducted for relevant articles, chapters, and books published until 2017. Search terms included Alzheimer's disease, cognitive impairment, dementia, DS, and trisomy 21. Publications found through this indexed search were reviewed for further references. Virtually, all subject aged 35 to 40 show key neuropathologic changes characteristic of Alzheimer's disease, but only a part of them show clinical signs of dementia, usually around the age of 50 years. Early signs of dementia in people with DS may be different from those experienced by the general population. Failure to recognize this can delay diagnosis and subsequent interventions.

  19. Normal obstetric ultrasound reduces the risk of down syndrome in fetuses of older mothers

    International Nuclear Information System (INIS)

    Anderson, N. G.; Luehr, B.; Ng, R.

    2006-01-01

    The objective of this study is to determine whether a normal fetal morphology ultrasound scan in women older than 35 years reduces the risk of aneuploidy. We reviewed the results of amniocentesis and second trimester sonogram in all women older than 35 years from 1991 to 1995. None had prior screening. We excluded fetuses with structural anomalies. We determined the sensitivity and specificity of minor markers in detecting Down syndrome and also determined the reduction in risk of a normal sonogram. Among the 2060 women older than 35 years giving birth during the study period, 16 (0.78%) delivered an infant with Down syndrome. Of the 16 fetuses, two had no prenatal testing or ultrasound, two had invasive testing but no second trimester sonogram, five had a normal sonogram and seven had one or more sonographic markers of Down syndrome. At least 17% of women older than 35 years did not participate in prenatal testing or ultrasound. Ultrasound detected Down syndrome with a sensitivity of 59% (95% confidence interval: 45-72%), a false-positive rate of 10.6% (9.4-11.8%) and a positive predictor value of 1 in 9. The likelihood of having normal karyotype if the sonogram was normal was 0.46 (0.31-0.61). In women older than 35 years, a normal second trimester sonogram reduces the risk of Down syndrome by more than 50%. At least 17% of women older than 35 years do not participate in prenatal testing or ultrasound

  20. Demographics and co-occurring conditions in a clinic-based cohort with Down syndrome in the United Arab Emirates.

    Science.gov (United States)

    Corder, Jennifer Price; Al Ahbabi, Fatima Jaber Sehmi; Al Dhaheri, Hind Saif; Chedid, Fares

    2017-09-01

    The majority of studies describing demographics and co-occurring conditions in cohorts with Down syndrome come from regions outside of the Middle East, mainly from Europe and North America. This paper describes demographics and co-occurring conditions in a hospital-based cohort of individuals with Down syndrome living in the Middle Eastern country of the United Arab Emirates (UAE). The first dedicated Down syndrome clinic in the UAE was established in 2012 at Tawam Hospital in Al Ain. This paper describes a clinic-based cohort of 221 participants over 4 years from the Gulf Down Syndrome Registry, a new Down syndrome database and contact registry created at Tawam Hospital. Key demographic findings include mean maternal age of 37 years, among the highest described in the literature. Sixty-two percent of mothers are >35 years. Over 90% of mothers received post-natal diagnosis of Down syndrome. High sex ratio, parental consanguinity, and large family size also characterize the group. The spectrum of many co-occurring conditions mirrors that of previously described populations, with some notable differences. Cardiovascular malformations are well represented, however, atrioventricular canal is not the most common. Genitourinary conditions are common, as evidenced by 12% of males with hypospadias and 15% with undescended testes. Glucose-6-phosphate dehydrogenase deficiency, alpha thalassemia trait, hypovitaminosis D, and dental caries are common in our cohort. This study describes a large hospital-based group with Down syndrome presenting to a new dedicated Down syndrome clinic in the UAE, highlighting unique demographic and co-occurring conditions found in that population. © 2017 Wiley Periodicals, Inc.

  1. Treating Speech Comprehensibility in Students with Down Syndrome

    Science.gov (United States)

    Yoder, Paul J.; Camarata, Stephen; Woynaroski, Tiffany

    2016-01-01

    Purpose: This study examined whether a particular type of therapy (Broad Target Speech Recasts, BTSR) was superior to a contrast treatment in facilitating speech comprehensibility in conversations of students with Down syndrome who began treatment with initially high verbal imitation. Method: We randomly assigned 51 5- to 12-year-old students to…

  2. Reported Sensory Processing of Children with Down Syndrome

    Science.gov (United States)

    Bruni, Maryanne; Cameron, Debra; Dua, Shelly; Noy, Sarah

    2010-01-01

    Investigators have identified delays and differences in cognitive, language, motor, and sensory development in children with Down syndrome (DS). The purpose of this study was to determine the parent-reported frequency of sensory processing issues in children with DS aged 3-10 years, and the parent-reported functional impact of those sensory…

  3. Speech & Language Therapy for Children and Adolescents with Down Syndrome

    Science.gov (United States)

    ... Engagement Resources Local Support NDSS Events NDSS Scholarships Social Media Kayla’s ... Speech and language development can be challenging for many children with Down syndrome. Here is information that can ...

  4. Pathways to Language: A Naturalistic Study of Children with Williams Syndrome and Children with Down Syndrome

    Science.gov (United States)

    Levy, Yonata; Eilam, Ariela

    2013-01-01

    This is a naturalistic study of the development of language in Hebrew-speaking children with Williams syndrome (WS) and children with Down syndrome (DS), whose MLU extended from 1[multiplied by]0 to 4[multiplied by]4. Developmental curves over the entire span of data collection revealed minor differences between children with WS, children with DS,…

  5. The Results of Corneal Hydrops Treatment in Patients with Down Syndrome

    Directory of Open Access Journals (Sweden)

    V. K. Surkova

    2018-01-01

    Full Text Available The article describes the clinical cases of acute keratoconus in three patients with Down syndrome who underwent penetrating  keratoplasty. Acute keratoconus were diagnosed in patients by examination of medical history, biomicroscopy, corneal topography,optical coherence tomography. Acute keratoconus occurs suddenly due to the rupture of Descemet’s membrane in the zone of itsstretching, when chamber moisture seeps into the thickness of the stroma, causing its swelling and perforation. If untreated, theprocess continues for 3–5 months. Most researchers recommend keratoplasty during the cold period of the disease. However, withthe threat of perforation require urgent surgical intervention. There are two effective methods of surgical treatment: epikeratophakiaand penetrating keratoplasty. Patients underwent penetrating keratoplasty. The preference for this method was given in connectionwith the following factors: young age patients (under 40 years, relatively healthy transparent peripheral zone of the cornea, whichwas observed in our patients, genetically determined diseases — Down syndrome, the threat of corneal perforation in the centre, apenchant for rubbing his eye, low vision other eye and the desire to obtain speedy optical effect along with the treatment. All patientsafter penetrating keratoplasty had improvement of visual acuity with observation periods up to 1 year. Due to the relatively highincidence of keratoconus in patients with Down syndrome should focus the attention of ophthalmologists. Thus, difficulties in thediagnosis of ophthalmic pathology in patients with concomitant Down syndrome can cause errors in verification of diagnosis and hencewrong treatment selection. In case of hydrops of the cornea penetrating keratoplasty is the choice treatment and contributes to the preservation of the eye and visual functions.

  6. Has prenatal screening influenced the prevalence of comorbidities associated with Down syndrome and subsequent survival rates?

    Science.gov (United States)

    Halliday, Jane; Collins, Veronica; Riley, Merilyn; Youssef, Danielle; Muggli, Evelyne

    2009-01-01

    With this study we aimed to compare survival rates for children with Down syndrome in 2 time periods, 1 before prenatal screening (1988-1990) and 1 contemporaneous with screening (1998-2000), and to examine the frequency of comorbidities and their influence on survival rates. Record-linkage was performed between the population-based Victorian Birth Defects Register and records of deaths in children up to 15 years of age collected under the auspice of the Consultative Council on Obstetric and Pediatric Mortality and Morbidity. Cases of Down syndrome were coded according to the presence or absence of comorbidities by using the International Classification of Diseases, Ninth Revision classification of birth defects. Kaplan-Meier survival functions and log rank tests for equality of survival distributions were performed. Of infants liveborn with Down syndrome in 1998-2000, 90% survived to 5 years of age, compared with 86% in the earlier cohort. With fetal deaths excluded, the proportion of isolated Down syndrome cases in the earlier cohort was 48.7% compared with 46.1% in the most recent cohort. In 1988-1990 there was at least 1 cardiac defect in 41.1% of cases and in 45.4% in 1998-2000. There was significant variation in survival rates for the different comorbidity groupings in the 1988-1990 cohort, but this was not so evident in the 1998-2000 cohort. Survival of children with Down syndrome continues to improve, and there is an overall survival figure of 90% to at least 5 years of age. It is clear from this study that prenatal screening technologies are not differentially ascertaining fetuses with Down syndrome and additional defects, because there has been no proportional increase in births of isolated cases with Down syndrome.

  7. Dual-Task Processing as a Measure of Executive Function: A Comparison between Adults with Williams and Down Syndromes

    Science.gov (United States)

    Kittler, Phyllis M.; Krinsky-McHale, Sharon J.; Devenny, Darlynne A.

    2008-01-01

    Behavioral phenotypes of individuals with Williams syndrome and individuals with Down syndrome have been contrasted in relation to short-term memory. People with Down syndrome are stronger visuospatially and those with Williams syndrome are stronger verbally. We examined short-term memory, then explored whether dual-task processing further…

  8. Emotion Recognition in Children With Down Syndrome: Influence of Emotion Label and Expression Intensity.

    Science.gov (United States)

    Cebula, Katie R; Wishart, Jennifer G; Willis, Diane S; Pitcairn, Tom K

    2017-03-01

    Some children with Down syndrome may experience difficulties in recognizing facial emotions, particularly fear, but it is not clear why, nor how such skills can best be facilitated. Using a photo-matching task, emotion recognition was tested in children with Down syndrome, children with nonspecific intellectual disability and cognitively matched, typically developing children (all groups N = 21) under four conditions: veridical vs. exaggerated emotions and emotion-labelling vs. generic task instructions. In all groups, exaggerating emotions facilitated recognition accuracy and speed, with emotion labelling facilitating recognition accuracy. Overall accuracy and speed did not differ in the children with Down syndrome, although recognition of fear was poorer than in the typically developing children and unrelated to emotion label use. Implications for interventions are considered.

  9. Role of metal ions in the cognitive decline of Down syndrome

    Directory of Open Access Journals (Sweden)

    Nakisa eMalakooti

    2014-06-01

    Full Text Available Down syndrome (DS, caused by trisomy of whole or part of chromosome 21 is the most common mental impairment. All Down syndrome (DS individuals suffer from cognitive decline and develop Alzheimer’s disease (AD by the age of forty. The appearance of enlarged early endosomes, followed by Amyloid β peptide deposition, the appearance of tau-containing neurofibrillary tangles and basal forebrain cholinergic neuron (BFCN degeneration are the neuropathological characteristics of this disease. In this review we will examine the role of metal ion dyshomeostasis and the genes which may be involved in these processes, and relate these back to the manifestation of age-dependant cognitive decline in DS.

  10. Trainee teachers' attitudes to inclusive education for children with Down's syndrome.

    Science.gov (United States)

    Wishart, J G; Manning, G

    1996-02-01

    The attitudes of 231 trainee teachers towards inclusive education for children with Down's syndrome were surveyed in two UK colleges of education, one in Scotland and one in Northern Ireland. While the right to educational integration for children with special educational needs was widely endorsed, considerable reservations were expressed about its implementation in practice. Only 13% of respondents indicated that they would welcome the opportunity to teach in an integrated setting and 96% felt that their professional training did not prepare them to meet this challenge. Many underestimated potential levels of achievement in children with Down's syndrome and over half wrongly associated the condition with very short life expectancy.

  11. Reexpression of a developmentally regulated antigen in Down syndrome and Alzheimer disease

    International Nuclear Information System (INIS)

    Wolozin, B.; Scicutella, A.; Davies, P.

    1988-01-01

    ALZ-50 is a monoclonal antibody that recognizes a protein of apparent molecular mass 68 kilodaltons (A68). The protein is present in the brains of patients with Alzheimer disease but is not detectable in normal adult brain tissue. The authors report that ALZ-50-reactive neurons are found in normal fetal and neonatal human brain and in brain tissue from neonatal individuals with Down syndrome. Reactive neurons decrease sharply in number after age 2 and reappear in older individuals with Down syndrome and in patients with Alzheimer disease

  12. Hematological abnormalities in adult patients with Down's syndrome.

    LENUS (Irish Health Repository)

    McLean, S

    2012-02-01

    BACKGROUND: There is a paucity of data regarding hematological abnormalities in adults with Down\\'s syndrome (DS). AIMS: We aimed to characterize hematological abnormalities in adult patients with DS and determine their long-term significance. METHODS: We retrospectively studied a cohort of nine DS patients referred to the adult hematology service in our institution between May 2001 and April 2008. Data collected were: full blood count (FBC), comorbidities, investigations performed, duration of follow-up and outcome to most recent follow-up. RESULTS: Median follow-up was 26 months (9-71). Of the nine patients, two had myelodysplastic syndrome (MDS) at presentation. Of these, one progressed, with increasing marrow failure, and requiring support with transfusions and gCSF. The remaining eight patients, with a variety of hematological abnormalities including leukopenia, macrocytosis, and thrombocytopenia, had persistently abnormal FBCs. However there was no evidence of progression, and no patient has evolved to acute myeloid leukemia (AML). CONCLUSIONS: MDS is a complication of DS and may require supportive therapy. However, minor hematological abnormalities are common in adult DS patients, and may not signify underlying marrow disease.

  13. Spine concerns in the Special Olympian with Down syndrome.

    Science.gov (United States)

    Tassone, James Channing; Duey-Holtz, Allison

    2008-03-01

    As with any child participating in sports, the safety of The Special Olympian participating in athletics is paramount. The preparticipation medical clearance is necessary to ensure these athletes' safety. In response to evidence that 15% of all individuals with Down syndrome have atlanto-occipital and/or atlanto-axial instability or subluxation, the Special Olympics Inc have additionally mandated preparticipation spine clearance for all individuals with Down syndrome. Spine clearance for the Special Olympian is challenging for the healthcare provider. In addition, controversy has arisen surrounding The Special Olympics Inc policy statement. The purposes of this article are to provide healthcare providers with a review of atlanto-occipital and atlanto-axial instability and subluxation, review spine clearance guidelines, discuss the details and controversy surrounding The Special Olympics Inc mandate, and provide recommendations on how to improve screening and ensure safety of the participants based on the current medical literature.

  14. Down syndrome clusters in Germany after the Chernobyl accident

    International Nuclear Information System (INIS)

    Burkart, W.; Grosche, B.; Schoetzau, A.

    1997-01-01

    In two independent studies using different approaches and covering West Berlin and Bavaria, respectively, highly significant temporal clusters of Down syndrome were found. Both sharp increases occurred in areas receiving relatively low Chernobyl fallout and concomitant radiation exposures. Only for the Berlin cluster was fallout present at the time of the affected meiosis, whereas the Nuremberg cluster preceded the radioactive contamination by 1 month. Hypotheses on possible causal relationships are compared. Radiation from the Chernobyl accident is an unlikely factor, because the associated cumulative dose was so low in comparison with natural background. Microdosimetric considerations would indicate that fewer than 1 in 200 oocyte nuclei would have experienced an ionizing event from Chernobyl radioactivity. Given the lack of understanding of what causes Down syndrome, other than factors associated with increased maternal age, additional research into environmental and infectious risk factors is warranted. 23 refs., 4 figs., 2 tabs

  15. A survey of speech and language pathology services for Down syndrome: state of the art.

    Science.gov (United States)

    Kumin, L

    1986-01-01

    This article summarizes current trends in speech and language pathology services to individuals with Down syndrome. Data was collected through the use of a questionnaire mailed to speech and language pathologists who regularly serve clients with Down syndrome. Most widely used assessment instruments, therapy materials, sources of information, and need for materials to be developed are presented as they relate to services for birth-3 year olds, 3-5 year olds, school-age-14 year olds, prevocational-18 year olds, and above-age-18 adult services. The discussion addresses specific needs for research and needed direction for evaluation and treatment with the Down syndrome population.

  16. How Do Object Size and Rigidity Affect Reaching and Grasping in Infants with Down Syndrome?

    Science.gov (United States)

    de Campos, Ana Carolina; Francisco, Kelly Regina; Savelsbergh, Geert J. P.; Rocha, Nelci Adriana Cicuto Ferreira

    2011-01-01

    Reaching and grasping skills have been described to emerge from a dynamic interaction between intrinsic and extrinsic factors. The purpose of the present study was to investigate the interaction between such an intrinsic factor, Down syndrome, and extrinsic factors, such as different object properties. Seven infants with Down syndrome and seven…

  17. Motor Deficits of Girls with Down Syndrome in Comparing with Girls with Intellectual Disability in the School Ages Children

    Directory of Open Access Journals (Sweden)

    Tahereh Daftari-Anbardan

    2014-03-01

    Full Text Available Objective: Motor function in children with Down syndrome is similar to mentally retarded children. But the movements are slower and have lower quality. The purpose of this study was to identify weaknesses in motor function in children with Down syndrome, by using Bruininks Oseretsky Test of Motor Proficiency (BOTMP. Materials & Methods: In this cross-sectional study, thirty six children with intellectual disability, 18 girls with Down syndrome and 18 girls without Down syndrome, with chronological aged 8-13 years were investigated. The subjects of Down syndrome were selected by available sampling. The subjects of intellectual disability were selected by simple random sampling. Two groups of participants were matched for chronological age and IQ level. The measurement was BOTMP. Statistical analysis was performed using the Mann-Whitney U rank sum test and t-test. Results: The children with Down syndrome scored significantly lower than the mentally retarded children in the areas of gross motor skill composite (P<0.014 balance (P<0.029, response time (P<0.034 and visual motor control (P<0.048, but the fine motor and overlay motor skill composite, and subtests of bilateral coordination, strength, upper limb coordination scores were no significantly different between two groups. Conclusion: Motor rehabilitation is appropriate for children with intellectual disability, especially for children with Down syndrome, in throughout their adolescence. Key words: Motor skill/ Intellectual Disability/ Down syndrome/ BOTMP

  18. Young People with Intellectual Disability Transitioning to Adulthood: Do Behaviour Trajectories Differ in Those with and without Down Syndrome?

    Directory of Open Access Journals (Sweden)

    Kitty-Rose Foley

    Full Text Available Young people with intellectual disability exhibit substantial and persistent problem behaviours compared with their non-disabled peers. The aim of this study was to compare changes in emotional and behavioural problems for young people with intellectual disability with and without Down syndrome as they transition into adulthood in two different Australian cohorts.Emotional and behavioural problems were measured over three time points using the Developmental Behaviour Checklist (DBC for those with Down syndrome (n = 323 at wave one and compared to those with intellectual disability of another cause (n = 466 at wave one. Outcome scores were modelled using random effects regression as linear functions of age, Down syndrome status, ability to speak and gender.DBC scores of those with Down syndrome were lower than those of people without Down syndrome indicating fewer behavioural problems on all scales except communication disturbance. For both groups disruptive, communication disturbance, anxiety and self-absorbed DBC subscales all declined on average over time. There were two important differences between changes in behaviours for these two cohorts. Depressive symptoms did not significantly decline for those with Down syndrome compared to those without Down syndrome. The trajectory of the social relating behaviours subscale differed between these two cohorts, where those with Down syndrome remained relatively steady and, for those with intellectual disability from another cause, the behaviours increased over time.These results have implications for needed supports and opportunities for engagement in society to buffer against these emotional and behavioural challenges.

  19. Behavior and adaptive functioning in adolescents with Down syndrome: specifying targets for intervention.

    Science.gov (United States)

    Jacola, Lisa M; Hickey, Francis; Howe, Steven R; Esbensen, Anna; Shear, Paula K

    2014-01-01

    Research suggests that adolescents with Down syndrome experience increased behavior problems as compared to age matched peers; however, few studies have examined how these problems relate to adaptive functioning. The primary aim of this study was to characterize behavior in a sample of adolescents with Down syndrome using two widely-used caregiver reports: the Behavioral Assessment System for Children, 2 nd Edition (BASC-2) and Child Behavioral Checklist (CBCL). The clinical utility of the BASC-2 as a measure of behavior and adaptive functioning in adolescents with Down syndrome was also examined. Fifty-two adolescents with Down syndrome between the ages of 12 and 18 (24 males) completed the Peabody Picture Vocabulary Test, 4 th Edition (PPVT-IV) as an estimate of cognitive ability. Caregivers completed the BASC-2 and the CBCL for each participant. A significant proportion of the sample was reported to demonstrate behavior problems, particularly related to attention and social participation. The profile of adaptive function was variable, with caregivers most frequently rating impairment in skills related to activities of daily living and functional communication. Caregiver ratings did not differ by gender and were not related to age or estimated cognitive ability. Caregiver ratings of attention problems on the BASC-2 accounted for a significant proportion of variance in Activities of Daily Living ( Adj R 2 = 0.30) , Leadership ( Adj R 2 = 0.30) Functional Communication ( Adj R 2 = 0.28, Adaptability ( Adj R 2 = 0.29), and Social Skills ( Adj R 2 = 0.17). Higher frequencies of symptoms related to social withdrawal added incremental predictive validity for Functional Communication, Leadership, and Social Skills. Convergent validity between the CBCL and BASC-2 was poor when compared with expectations based on the normative sample. Our results confirm and extend previous findings by describing relationships between specific behavior problems and targeted areas of

  20. Behavior and adaptive functioning in adolescents with Down syndrome: specifying targets for intervention

    Science.gov (United States)

    Jacola, Lisa M.; Hickey, Francis; Howe, Steven R.; Esbensen, Anna; Shear, Paula K.

    2016-01-01

    Background Research suggests that adolescents with Down syndrome experience increased behavior problems as compared to age matched peers; however, few studies have examined how these problems relate to adaptive functioning. The primary aim of this study was to characterize behavior in a sample of adolescents with Down syndrome using two widely-used caregiver reports: the Behavioral Assessment System for Children, 2nd Edition (BASC-2) and Child Behavioral Checklist (CBCL). The clinical utility of the BASC-2 as a measure of behavior and adaptive functioning in adolescents with Down syndrome was also examined. Methods Fifty-two adolescents with Down syndrome between the ages of 12 and 18 (24 males) completed the Peabody Picture Vocabulary Test, 4th Edition (PPVT-IV) as an estimate of cognitive ability. Caregivers completed the BASC-2 and the CBCL for each participant. Results A significant proportion of the sample was reported to demonstrate behavior problems, particularly related to attention and social participation. The profile of adaptive function was variable, with caregivers most frequently rating impairment in skills related to activities of daily living and functional communication. Caregiver ratings did not differ by gender and were not related to age or estimated cognitive ability. Caregiver ratings of attention problems on the BASC-2 accounted for a significant proportion of variance in Activities of Daily Living (Adj R2 = 0.30), Leadership (Adj R2 = 0.30) Functional Communication (Adj R2 = 0.28, Adaptability (Adj R2 = 0.29), and Social Skills (Adj R2 = 0.17). Higher frequencies of symptoms related to social withdrawal added incremental predictive validity for Functional Communication, Leadership, and Social Skills. Convergent validity between the CBCL and BASC-2 was poor when compared with expectations based on the normative sample. Conclusion Our results confirm and extend previous findings by describing relationships between specific behavior problems

  1. The effect of mitotic inhibitors on DNA strand size and radiation-associated break repair in Down syndrome fibroblasts

    International Nuclear Information System (INIS)

    Woods, W.G.; Steiner, M.E.; Kalvonjian, S.L.

    1985-01-01

    The effect of mitotic inhibitors on formation and repair of DNA breaks was studied in cultured fibroblasts from patients with Down syndrome in order to investigate the hypothesis that the karyotyping procedure itself may play a role in the increased chromosome breakage seen in these cells after gamma radiation exposure. Using the nondenaturing elution and alkaline elution techniques to examine fibroblasts from Down syndrome patients and from controls, no specific abnormalities in Down syndrome cells could be detected after exposure to mitotic inhibitors, including rate and extent of elution of DNA from filters as well as repair of radiation-induced DNA breaks. In both normal and Down syndrome cell strains, however, exposure to mitotic inhibitors was associated with a decrease in cellular DNA strand size, suggesting the presence of drug-induced DNA strand breaks. The mechanism of increased chromosome sensitivity of Down syndrome cells to gamma radiation remains unknown. (orig.)

  2. Down's syndrome with Ventricular septal Defect (VsD)

    African Journals Online (AJOL)

    InTRodUcTIon. Down's syndrome (DS) (Trisomy 21) occurs in about one in 800 live births without predilection for race or socioeconomic class with a male to female ratio of. 1:1. It is the most common chromosomal abnormality in newborns and one of the most frequent genetic causes of mild to moderate mental retardation1, ...

  3. Prevalence of overweight in Dutch children with Down Syndrome

    NARCIS (Netherlands)

    Gameren-Oosterom, H.B.M. van; Dommelen, P. van; Schönbeck, Y.; Oudesluys-Murphy, A.; Wouwen, J.P. van; Buitendijk, S.E.

    2012-01-01

    Prevalence of overweight in children is increasing, causing various health problems. This study aims to establish growth references for weight and to assess the prevalence rates of overweight and obesity in a nationwide sample of Dutch children with Down syndrome (DS), taking into account the

  4. Bilateral condylar resorption in down syndrome.

    Science.gov (United States)

    Grippaudo, Cristina; Grippaudo, Francesca Romana; Marianetti, Tito Matteo; Cacucci, Laura; Deli, Roberto; Pelo, Sandro

    2014-11-01

    Asymptomatic idiopathic condylar resorption is a rare disease of difficult diagnosis and treatment. We review the literature about this rare condition and report a case of a patient, affected by Down syndrome, who underwent a complete untreated bilateral condylar resorption in adolescence and then developed pain on chewing only 20 years later. Despite a precise orthodontic and surgical therapeutic plan, treatment had to be discontinued because of patient lack of compliance. This case is the first of its kind to be reported and emphasizes the need for special attention in patients with disability.

  5. Impact of a new national screening policy for Down's syndrome in Denmark: population based cohort study

    DEFF Research Database (Denmark)

    Ekelund, Charlotte K; Jørgensen, Finn Stener; Petersen, Olav Bjørn

    2008-01-01

    OBJECTIVES: To evaluate the impact of a screening strategy in the first trimester, introduced in Denmark during 2004-6, on the number of infants born with Down's syndrome and the number of chorionic villus samplings and amniocenteses, and to determine detection and false positive rates...... and newborn infants with Down's syndrome diagnosed prenatally and postnatally and number of chorionic villus samplings and amniocenteses carried out. Secondary outcomes measured were number of women screened in 2005 and 2006, screen positive rate, and information on screening in 2005 and 2006 for infants...... with a postnatal diagnosis of Down's syndrome. RESULTS: The number of infants born with Down's syndrome decreased from 55-65 per year during 2000-4 to 31 in 2005 and 32 in 2006. The total number of chorionic villus samplings and amniocenteses carried out decreased from 7524 in 2000 to 3510 in 2006. The detection...

  6. Enhancement of object-permanence performance in the Down's syndrome infant.

    Science.gov (United States)

    Morss, J R

    1984-01-01

    Four infants with Down's syndrome (aged 19-33 months) were presented with a restructured version of an object-permanence task. Restructuring consisted of the embedding of single trials of the task within a sequence of simpler, related steps. Following failure on a standard presentation of the task, three Down's syndrome (DS) infants demonstrated success on trials embedded in the training sequence. Comparison was made with the performance of normal infants (aged 14-19 months) matched in terms of failure on the pre-test. Only two out of nine normal infants registered success on the embedded trials. Results are discussed in terms of the differences between the DS infant and the normal infant, and the former's reliance on the deliberate structuring of his learning environment by a parent or educator.

  7. Health conditions and their impact among adolescents and young adults with Down syndrome.

    Directory of Open Access Journals (Sweden)

    Terri J Pikora

    Full Text Available OBJECTIVE: To examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the impact of these conditions upon their lives. METHODS: Using questionnaire data collected in 2011 from parents of young adults with Down syndrome we investigated the medical conditions experienced by their children in the previous 12 months. Univariate, linear and logistic regression analyses were performed. RESULTS: We found that in addition to the conditions commonly experienced by children with Down syndrome, including eye and vision problems (affecting 73%, ear and hearing problems (affecting 45%, cardiac (affecting 25% and respiratory problems (affecting 36%, conditions also found to be prevalent within our young adult cohort included musculoskeletal conditions (affecting 61%, body weight (affecting 57%, skin (affecting 56% and mental health (affecting 32% conditions and among young women menstrual conditions (affecting 58%. Few parents reported that these conditions had no impact, with common impacts related to restrictions in opportunities to participate in employment and community leisure activities for the young people, as well as safety concerns. CONCLUSION: There is the need to monitor, screen and provide appropriate strategies such as through the promotion of healthy lifestyles to prevent the development of comorbidities in young people with Down syndrome and, where present, to reduce their impact.

  8. Identifying Network Structure, Influencers and Social Mood in Digital Spheres: A Sentiment and Content Analysis of Down Syndrome Awareness

    Science.gov (United States)

    Sani-Bozkurt, Sunagul

    2018-01-01

    Down syndrome is a sensitive subject and one that requires efforts being made to improve conditions for individuals with Down syndrome across multiple dimensions. Social awareness is one of the important dimensions for the inclusion of individuals with Down syndrome. Online spaces, as well as offline spaces, are an important part of our daily…

  9. Identifying the Barriers and Facilitators to Participation in Physical Activity for Children with Down Syndrome

    Science.gov (United States)

    Barr, M.; Shields, N.

    2011-01-01

    Background: Many children with Down syndrome do not undertake the recommended amount of daily physical activity. The aim of this study was to explore the barriers and facilitators to physical activity for this group. Methods: Eighteen in-depth interviews were conducted with 20 parents (16 mothers, 4 fathers) of children with Down syndrome aged…

  10. The Impact of Periodontal Disease on the Quality of Life of Individuals with Down Syndrome

    Science.gov (United States)

    Loureiro, Ana Cristina Amaral; Costa, Fernando Oliveira; da Costa, Jose Eustaquio

    2007-01-01

    Objective: This study aimed to determine the prevalence of periodontal disease among children and adolescents with Down syndrome and the possible repercussions of such pathology in the quality of life of the group in question. Method: The sample consists of 93 individuals with Down syndrome 6-20 years old, living in Brazil (Minas Gerais).…

  11. Employment in Adults with Down Syndrome in the United States: Results from a National Survey

    Science.gov (United States)

    Kumin, Libby; Schoenbrodt, Lisa

    2016-01-01

    Background: There is no current data about employment/unemployment of adults with Down syndrome in the United States. The data that exists includes adults with Down syndrome as part of the larger group of people with disabilities or people with intellectual disability. Method: This study used a survey to investigate paid and volunteer employment,…

  12. Adult siblings of individuals with Down syndrome versus with autism: findings from a large-scale US survey.

    Science.gov (United States)

    Hodapp, R M; Urbano, R C

    2007-12-01

    As adults with Down syndrome live increasingly longer lives, their adult siblings will most likely assume caregiving responsibilities. Yet little is known about either the sibling relationship or the general functioning of these adult siblings. Using a national, web-based survey, this study compared adult siblings of individuals with Down syndrome to siblings of individuals with autism in terms of a potential 'Down syndrome advantage' and changes across age of the brother/sister with disabilities. Two groups were examined, siblings of persons with Down syndrome (n = 284) and with autism (n = 176). The Adult Sibling Questionnaire measured the number and length of contacts between siblings and their brothers/sisters with disabilities; the warmth, closeness and positiveness of the sibling relationship; and the sibling's overall levels of perceived health, depression and rewards of being a sibling. Compared with siblings of brothers/sisters with autism, siblings of brothers/sisters with Down syndrome showed closer, warmer sibling relationships, along with slightly better health, lower levels of depressive symptoms and more contacts. Across age groups of the brother/sister with disabilities, both groups showed lessened contacts, with less close sibling relationships occurring when brothers/sisters with disabilities were aged 30-44 years and 45 years and older (in Down syndrome) and 45 years and older (in autism). Within both groups, closer sibling relationships were associated with more frequent and lengthy contacts, brothers/sisters with disabilities who were better at maintaining friendships and had lower levels of behavioural/emotional problems, and siblings who felt themselves more rewarded by being a sibling to a brother/sister with disabilities. In line with earlier work on families of children with disabilities, this study shows an advantage for siblings of adults with Down syndrome, in terms of both sibling relationships and of slightly better health and

  13. Motor, linguistic, personal and social aspects of children with Down syndrome

    Directory of Open Access Journals (Sweden)

    Amanda Tragueta FERREIRA-VASQUES

    2015-08-01

    Full Text Available AbstractA global developmental delay is expected from Down syndrome, affecting motor, cognitive, linguistic and personal-social skills. However, not always these delays are proportional; different conditions occur due to several intrinsic and extrinsic variables that must be controlled to form groups of greater homogeneity.Objective To enhance personal-social, fine motor-adaptive, gross motor and linguistic skills among children with Down syndrome and compare them with typically developing children, matched for gender, socioeconomic status and mental age, while controlling some variables that interfere with the global development.Methods The ethical aspects were fulfilled (Case No. 040/2009. The following inclusion criteria were considered: participants without a history of prematurity, very low birth weight, congenital hypothyroidism, significant hearing and vision problems, and signs of Autism Spectrum Disorder. After the inclusion criteria were considered, 40 children participated in the study, of which 20 had Down syndrome (experimental group - EG, these being of both genders and with chronological ages ranging from 38 to 63 months, and the other 20 being typically developing children (control group - CG, matching the EG in terms of gender, socioeconomic status and mental age, with this age ranging from 13 to 50 months. The evaluation consisted in applying the Denver Developmental Screening Test II, a test that assesses areas such as personal-social, fine motor-adaptive, linguistic and gross motor development. The results were subjected to statistical analysis using Student’s t-test.Results A statistically significant difference was verified between the groups for the language and fine motor-adaptive areas.Conclusion Children with Down syndrome showed lower performance in language and fine motor skills when compared with typically developing children. There was no statistically significant difference in gross motor and personal

  14. Syntactic bootstrapping in children with Down syndrome: the impact of bilingualism.

    Science.gov (United States)

    Cleave, Patricia L; Kay-Raining Bird, Elizabeth; Trudeau, Natacha; Sutton, Ann

    2014-01-01

    The purpose of the study was to add to our knowledge of bilingual learning in children with Down syndrome (DS) using a syntactic bootstrapping task. Four groups of children and youth matched on non-verbal mental age participated. There were 14 bilingual participants with DS (DS-B, mean age 12;5), 12 monolingual participants with DS (DS-M, mean age 10;10), 9 bilingual typically developing children (TD-B; mean age 4;1) and 11 monolingual typically developing children (TD-M; mean age 4;1). The participants completed a computerized syntactic bootstrapping task involving unfamiliar nouns and verbs. The syntactic cues employed were a for the nouns and ing for the verbs. Performance was better on nouns than verbs. There was also a main effect for group. Follow-up t-tests revealed that there were no significant differences between the TD-M and TD-B or between the DS-M and DS-B groups. However, the DS-M group performed more poorly than the TD-M group with a large effect size. Analyses at the individual level revealed a similar pattern of results. There was evidence that Down syndrome impacted performance; there was no evidence that bilingualism negatively affected the syntactic bootstrapping skills of individuals with DS. These results from a dynamic language task are consistent with those of previous studies that used static or product measures. Thus, the results are consistent with the position that parents should be supported in their decision to provide bilingual input to their children with DS. Readers of this article will identify (1) research evidence regarding bilingual development in children with Down syndrome and (2) syntactic bootstrapping skills in monolingual and bilingual children who are typically developing or who have Down syndrome. Copyright © 2014 Elsevier Inc. All rights reserved.

  15. The Effect of Sport Activities on Perceptual-motor Skills among Obese Children with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Abdollah Ghasemi

    2015-07-01

    Full Text Available Objective: The aim of the present study was to investigate the effect of eight weeks selected sport trainings on perceptual- motor skills among typical obese girls and girls with Down syndrome (aged 7-13. Materials & Methods: In this quasi-experimental study with control group, 22 obese children with Down syndrome and 22 typical obese children who were selected purposefully participated in 24 purposeful sport training sessions. All groups were assessed with Bruininks-Oseretsky Test of Motor Proficiency before and after training sessions. Results: The findings showed that both groups of participants significantly developed in their gross motor skills (P<0.05 but not in fine skills. Also, the results indicated that obese children with Down syndrome had significantly (P<0.05 higher progress in both gross and fine motor skills than typical children. Conclusion: Despite of the variety of influential genetic and environmental constraints on obese children with Down syndrome they can develop their perceptual-motor skills via purposeful sport trainings such as play and leisure. Necessity of early perceptual-motor training is discussed.

  16. Assessment of immune function in Down syndrome patients | Abdel ...

    African Journals Online (AJOL)

    In Down syndrome (DS), trisomy 21 leads to overexpression of gene coding for specific enzymes. This overexpression translates directly into biochemical aberrations that affect multiple interacting metabolic pathways which culminates in cellular dysfunction and contributes to the unique pathogenesis of DS. The aim of this ...

  17. Communication and Self-Esteem in Adults with Down Syndrome

    Science.gov (United States)

    Jackson, Claire; Cavenagh, Penny; Clibbens, John

    2014-01-01

    Background: It is estimated that around 50-90% of people with learning disabilities experience difficulties in communicating. Previous research has linked communication difficulties and self-esteem in other populations, yet this relationship has not previously been investigated for people with Down syndrome. Aims: To explore the relationship…

  18. Lower neonatal screening thyroxine concentrations in Down syndrome newborns

    NARCIS (Netherlands)

    van Trotsenburg, A. S. P.; Vulsma, T.; van Santen, H. M.; Cheung, W.; de Vijlder, J. J. M.

    2003-01-01

    There is an unexplained higher incidence of congenital hypothyroidism (CH) detected by T-4-based neonatal screening programs and a very high prevalence of (mild) plasma TSH elevation in young children with Down syndrome (DS). To determine whether newborns with DS have decreased blood T-4

  19. Age at postnatal diagnosis of Down syndrome in the northern Netherlands for the period 1981-2000

    NARCIS (Netherlands)

    Heuterman, JSJ; de Walle, HEK; Poortvliet, MC; Bouman, K; Cornel, MC

    2004-01-01

    Background. In live-born children with Down syndrome it may be very difficult for the clinician or midwife assisting at the delivery to recognise Down syndrome in newborn babies due to varying physical appearances. Meanwhile more and more therapeutical interventions become available that should

  20. The recognition of autism in children with Down syndrome--implications for intervention and some speculations about pathology.

    Science.gov (United States)

    Howlin, P; Wing, L; Gould, J

    1995-05-01

    Although autism can occur in conjunction with a range of other conditions, the association with Down syndrome is generally considered to be relatively rare. Four young boys with Down syndrome are described who were also autistic. All children clearly fulfilled the diagnostic criteria for autism required by the ICD-10 or DSM-III-R, but in each case the parents had faced considerable difficulties in obtaining this diagnosis. Instead, the children's problems had been attributed to their cognitive delays, despite the fact that their behaviour and general progress differed from other children with Down syndrome in many important aspects. The implications, for both families and children, of the failure to diagnose autism when it co-occurs with other conditions such as Down syndrome are discussed. Some speculations about possible pathological associations are also presented.

  1. Care demands on mothers caring for a child with Down syndrome: Malaysian (Sarawak) mothers' perspectives.

    Science.gov (United States)

    Chan, Kim Geok; Lim, Khatijah Abdullah; Ling, How Kee

    2015-10-01

    This paper examines the experiences of mothers caring for a child with Down syndrome in the Malaysian (Sarawak) context. Qualitative interviews were conducted with 26 biological mothers of children with Down syndrome aged 18 years and below. They were accessed through selected child health clinics, community-based rehabilitation centres and schools using purposive sampling within two regions in Sarawak, one of the two Borneo States of Malaysia. Major themes emerging within the context of care demands were children's health, developmental delays, daily needs and behaviour issues. The insights obtained into the care demands experienced by mothers of children with Down syndrome have several implications for practice by care professionals. © 2014 Wiley Publishing Asia Pty Ltd.

  2. Benefits to Down's syndrome children through training their mothers.

    Science.gov (United States)

    Bidder, R T; Bryant, G; Gray, O P

    1975-05-01

    This study investigated the hypothesis that training of mothers with Down's syndrome children would be beneficial both to the child and parents. The mothers were taught behaviour modification techniques based on learning theory and were given group discussions on dealing with their family or personal problems. The subjects were 16 mothers with a Down's syndrome child, divided into two groups on the basis of their child's sex and chronological and mental ages. The Griffiths Scale was used for assessment. The mothers in the treatment group received 12 sessions of training and group counseling over a 6-month period, whereas the control mothers received no additional attention except the usual routine from the general practitioner and health visitor. The result show clear gains to both the child and mother in the treatment group. The child improved, especially in language development as well as in the other areas, and the mother-gained more confidence and competence in her daily management of the child.

  3. Disparities in Health Supervision for Children With Down Syndrome.

    Science.gov (United States)

    Williams, Katie; Wargowski, David; Eickhoff, Jens; Wald, Ellen

    2017-12-01

    Increasing evidence suggests children with Down syndrome do not receive recommended health care services. We retrospectively assessed adherence to the 2001 American Academy of Pediatrics health supervision guidelines for 124 children with Down syndrome. Cervical spine radiographs were completed for 94% of children, often preoperatively. Adherence to complete blood count recommendations was 55% (95% CI 44% to 66%); lower for males ( P = .01) and children with private medical insurance ( P = .04). Adherence to thyroid function recommendations was 61% (95% CI 54% to 67%); higher for children seen by a pediatrician ( P = .002) and with known thyroid disease ( P < .0001). Adherence to audiology and ophthalmology recommendations was 33% (95% CI 27% to 40%) and 43% (95% CI 37% to 50%), respectively. Adherence rates were higher for children referred to an otolaryngologist ( P = .0002) and with known eye disease ( P < .0001). Future efforts should identify barriers to care and improve adherence to recommended screening.

  4. Young People with Intellectual Disability Transitioning to Adulthood: Do Behaviour Trajectories Differ in Those with and without Down Syndrome?

    Science.gov (United States)

    Foley, Kitty-Rose; Taffe, John; Bourke, Jenny; Einfeld, Stewart L.; Tonge, Bruce J.; Trollor, Julian; Leonard, Helen

    2016-01-01

    Background Young people with intellectual disability exhibit substantial and persistent problem behaviours compared with their non-disabled peers. The aim of this study was to compare changes in emotional and behavioural problems for young people with intellectual disability with and without Down syndrome as they transition into adulthood in two different Australian cohorts. Methods Emotional and behavioural problems were measured over three time points using the Developmental Behaviour Checklist (DBC) for those with Down syndrome (n = 323 at wave one) and compared to those with intellectual disability of another cause (n = 466 at wave one). Outcome scores were modelled using random effects regression as linear functions of age, Down syndrome status, ability to speak and gender. Results DBC scores of those with Down syndrome were lower than those of people without Down syndrome indicating fewer behavioural problems on all scales except communication disturbance. For both groups disruptive, communication disturbance, anxiety and self-absorbed DBC subscales all declined on average over time. There were two important differences between changes in behaviours for these two cohorts. Depressive symptoms did not significantly decline for those with Down syndrome compared to those without Down syndrome. The trajectory of the social relating behaviours subscale differed between these two cohorts, where those with Down syndrome remained relatively steady and, for those with intellectual disability from another cause, the behaviours increased over time. Conclusions These results have implications for needed supports and opportunities for engagement in society to buffer against these emotional and behavioural challenges. PMID:27391326

  5. DEVELOPMENTAL FOLLOW-UP OF A FEMALE INFANT WITH RECOMBINANT DOWN SYNDROME UP TO THREE AND A HALF YEARS

    Directory of Open Access Journals (Sweden)

    Darija Strah

    2018-02-01

    Full Text Available Background: Recombinant Down Syndrome with partial duplication of the long arm of chromosome 21 represents a rare form of partial trisomy 21. The cause is mostly chromosome rearrangement- pericentric inversion of maternal or paternal homologous chromosome 21 and duplication of Down syndrome critical region p11.1q22.1, resulting in a child with phenotypical signs of classical Down syndrome with psychomotorical developmental delay. Methods: We describe a Down sydrome female infant with partial trisomy of chromosome 21. Ultra- sound screening for Down syndrome in the first trimester of pregnancy determined high risk for chromosomal abnormality. Amniocentesis showed normal prenatal karyotype. After birth a female infant started to show symptoms and signs, typical for classical Down syndrome. Postnatal karyotype revealed pericentric inversion and duplication of one chro- mosome 21 of maternal origin in the p11.1q22.1 region. The follow up of female infant up to three and a half years shows signs of psychomotorical delay with no structural defects. Therefore her developmental amelioration is less expressed compared to classical Down syndrome. Conclusions: Developmental follow up of a girl with partial trisomy 21 reveals a lot of similarities with the development of children with classical trisomy 21, but less expressed: facial gestalt, short statue, hypotonia and intellectual disabilities. Global developmental delay in spite of developmental treatment grows more and more evidently.

  6. Speech Timing and Verbal Short-Term Memory: Evidence for Contrasting Deficits in Down Syndrome and Williams Syndrome

    Science.gov (United States)

    Jarrold, Christopher; Cowan, Nelson; Hewes, Alexa K.; Riby, Deborah M.

    2004-01-01

    This study explored the degree of verbal short-term memory deficit among individuals with Down syndrome and Williams syndrome, and the extent to which any such impairment could be accounted for by a relative slowing of rehearsal and output processes. Measures of serial recall and detailed assessments of speeded articulation for short and long…

  7. Working memory and Down syndrome.

    Science.gov (United States)

    Baddeley, A; Jarrold, C

    2007-12-01

    A brief account is given of the evolution of the concept of working memory from a unitary store into a multicomponent system. Four components are distinguished, the phonological loop which is responsible for maintaining speech-based information, the visuospatial sketchpad performing a similar function for visual information, the central executive which acts as an attentional control system, and finally a new component, the episodic buffer. The buffer comprises a temporary multidimensional store which is assumed to form an interface between the various subsystems of working memory, long-term memory, and perception. The operation of the model is then illustrated through an account of a research programme concerned with the analysis of working memory in Down syndrome.

  8. Down syndrome and personalized medicine: changing paradigms from genotype to phenotype to treatment.

    Science.gov (United States)

    McCabe, Linda L; McCabe, Edward R B

    2013-03-01

    Personalized Medicine represents a paradigm shift in the conceptual framework of research and clinical care. This shift argues that Down syndrome is a treatable condition, and therefore we must invest in research to improve outcomes. Individuals with Down syndrome have varying levels of increased risk for a number of co-morbidities, including infantile spasms and early onset Alzheimer's disease. We will review research in these associated conditions to show how investigators are attempting to identify biomarkers, including genomic, epigenomic, proteomic and metabolomic "signatures" that will predict who may be at risk to develop a specific co-morbidity prior to onset and will provide novel targets for therapeutic development. This Personalized Medicine approach will permit predictive and preventive approaches for individuals at increased risk for co-morbidities. The support for clinical trials among individuals with Down syndrome is beginning to overcome the "culture of intractability" that has surrounded this disorder. © 2012 The Authors. Congenital Anomalies © 2012 Japanese Teratology Society.

  9. Knee Deformities in Children With Down Syndrome: A Focus on Knee Malalignment.

    Science.gov (United States)

    Duque Orozco, Maria Del Pilar; Abousamra, Oussama; Chen, Brian Po-Jung; Rogers, Kenneth J; Sees, Julieanne P; Miller, Freeman

    Patellofemoral instability (PFI) has been the most reported knee abnormality in people with Down syndrome. Other reported knee abnormalities have been associated with PFI and different management approaches have been described with variable outcomes. The aim of this study was to describe the anatomic variations of the knee in children with Down syndrome. A comparison between knees with and without PFI was performed and our experience in treating knee abnormalities in Down syndrome was also reported. Records of all children with Down syndrome were reviewed. Two groups were identified (knees with and without PFI). Radiographic measurements included the mechanical and anatomic lateral distal femoral angles, medial proximal tibial angle, angle of depression of medial tibial plateau, lateral tibial translation, and distal femoral physis-joint angle. On the lateral view, Insall-Salvati and Blackburne-Peel ratios were measured. The sulcus angle was measured on the tangential view. Measurements were compared between the 2 groups (with and without PFI).Knees with PFI were divided into 3 subgroups based on their treatment (group A: surgical valgus correction, group B: surgical soft tissue procedures for PFI, and group C: conservative treatment). Preoperative radiographs were used for the surgical group and last available radiographs were used for the conservative group. Clinical and radiographic data were compared between the groups. For groups A and B, clinical and radiographic data were also compared between preoperative and last visits. Of the 581 children with Down syndrome, 5% (31 children: 22 females, 9 males) had PFI in 56 knees. Mean age at diagnosis was 11.5±3.5 years. Of the remaining 550 children, 75 children had radiographs for 130 knees. Knees with PFI had significantly more valgus and a larger distal femoral physis-joint angle. Depression of the medial tibial plateau and lateral tibial translation were noted in knees with PFI. Insall-Salvati ratio was higher

  10. Narrative Story-Telling in Autism and Down Syndrome.

    Science.gov (United States)

    Loveland, Katherine A.; And Others

    Sixteen subjects with autism and 16 with Down Syndrome (aged 5 to 27), matched on verbal mental age, watched a short puppet show or video skit and were then asked to tell the story to a listener and answer follow-up questions. The majority of both groups were able to produce recognizable, though primitive, narratives. The groups did not differ in…

  11. Processos cognitivos e plasticidade cerebral na Síndrome de Down Cognitive processes and brain plasticity in Down Syndrome

    Directory of Open Access Journals (Sweden)

    Maria de Fátima Minetto Caldeira Silva

    2006-04-01

    Full Text Available muito tem se falado sobre a Síndrome de Down. Mas um ponto se destaca: suas dificuldades cognitivas. Quais as áreas mais afetadas? Como potencializá-las? Essas são perguntas que instigam muitos pesquisadores. Com a efetivação da inclusão escolar, ampliaram-se as buscas por respostas, uma vez que, nas últimas décadas, ficou evidente que pessoas com Síndrome de Down têm potencial cognitivo a desenvolver. Deixamos claro aqui que não estamos negando a constatação de lesões em função de alterações genéticas, mas a possibilidade de minimizá-las. Esse artigo tem o intuito de abordar e discutir algumas das descobertas relacionadas aos processos cognitivos na Síndrome de Down, procurando evidenciar a importância da plasticidade cerebral no desenvolvimento e na aquisição da aprendizagem. Assim, procuraremos fazer um apanhado dos processos cognitivos na Síndrome de Down, correlacionando-os com os conceitos gerais de plasticidade cerebral e verificar como esses conhecimentos podem favorecer a aprendizagem. Temos plena consciência de que não esgotaremos o tema, mas pretendemos iniciar uma reflexão. Para isso, faremos uma revisão de literatura, contemplando as pesquisas, desde as mais antigas até as mais recentes, numa tentativa de entender melhor como fazer uso dessas descobertas.much has been said about Down Syndrome. But one aspect stands out: their cognitive difficulties. Which areas are most affected? How can they be enhanced? Such questions have instigated many researchers. As inclusion in the schools is being achieved, such issues have augmented the search for answers, since, during the last decades have shown that people with Down Syndrome do have cognitive potential to develop. We would like to point out at this time that we don't intend to deny the evidence of real lesions due to genetic alterations, but rather to highlight the possibility of minimizing their negative effect. The aim of this article is to address and

  12. [Transient myeloproliferation and acute myeloid leukemia in infants with Down's syndrome].

    Science.gov (United States)

    Creutzig, U; Ritter, J; Vormoor, J; Eschenbach, C; Dickerhoff, R; Burdach, S; Scheel-Walter, H G; Kühl, J; Schellong, G

    1990-01-01

    Transient neonatal myeloproliferative disorders (TMD's) indistinguishable from acute leukaemia by clinical and morphological criteria have been described in neonates with Down's syndrome. To analyse its clinical significance, 10 infants under 1 year of age presenting with Down's syndrome and the morphological picture of acute myelogenous leukaemia were reviewed. 3 of these children had true AML leading to death after 2, 8 and 11 months. In the other 7 children the diagnosis TMD was suggested as spontaneous or in one case interferon-induced remission occurred within 4 to 25 weeks after diagnosis. The interferon-treated patient died of SIDS at the age of 11 months. Another one of the TMD children developed fatal erythroleukaemia at the age of 2 years. Regarding initial clinical and haematological parameters, TMD was indistinguishable from true congenital leukaemie. In all patients classification according to the FAB criteria was difficult, as mainly undifferentiated or poorly differentiated myeloid blasts were seen, sometimes with erythro- or megakaryocytic features. Because of the difficulties in the differential diagnosis of TMD and true AML it is recommended to delay specific cytostatic therapy in neonates with Down's syndrome, until definite progression of the leukaemic process is observed or cytogenetic analyses suggesting true AML are available.

  13. Simple View of Reading in Down's syndrome: the role of listening comprehension and reading skills.

    Science.gov (United States)

    Roch, Maja; Levorato, M Chiara

    2009-01-01

    According to the 'Simple View of Reading' (Hoover and Gough 1990), individual differences in reading comprehension are accounted for by decoding skills and listening comprehension, each of which makes a unique and specific contribution. The current research was aimed at testing the Simple View of Reading in individuals with Down's syndrome and comparing their profiles with typically developing first graders. Listening comprehension and the ability to read both words and non-words was compared in two groups with the same level of reading comprehension: 23 individuals with Down's syndrome aged between 11 years 3 months and 18 years 2 months and 23 first-grade typically developing children aged between 6 years 2 months and 7 years 4 months. The results indicate that at the same level of reading comprehension, individuals with Down's syndrome have less developed listening comprehension and more advanced word recognition than typically developing first graders. A comparison of the profiles of the two groups revealed that reading comprehension level was predicted by listening comprehension in both groups of participants and by word-reading skills only in typically developing children. The Simple View of Reading model is confirmed for individuals with Down's syndrome, although they do not show the reading profile of typically developing first graders; rather, they show an atypical profile similar to that of 'poor comprehenders' (Cain and Oakhill 2006). The crucial role of listening comprehension in Down's syndrome is also discussed with reference to the educational implications.

  14. Depression in Down Syndrome: A Review of the Literature

    Science.gov (United States)

    Walker, J. C.; Dosen, A.; Buitelaar, J. K.; Janzing, J. G. E.

    2011-01-01

    Background: Depression has been frequently reported in individuals with Down Syndrome (DS). The aim of this article is to provide a comprehensive, critical review of the clinically relevant literature concerning depression in DS, with a focus on epidemiology, potential risk factors, diagnosis, course characteristics and treatment. Methods: We…

  15. Down's syndrome in South Africa - incidence, maternal age and ...

    African Journals Online (AJOL)

    Down's syndrome (DS) is the most common chromosomal cause of mental retardation, and amniocentesis is the most significant factor affecting its prevalence. In South Africa, prenatal cytogenetic diagnoses have been available for just over a decade and the utilisation and effect of this procedure in the white population ...

  16. The Development of Route Learning in Down Syndrome, Williams Syndrome and Typical Development: Investigations with Virtual Environments

    Science.gov (United States)

    Purser, Harry R. M.; Farran, Emily K.; Courbois, Yannick; Lemahieu, Axelle; Sockeel, Pascal; Mellier, Daniel; Blades, Mark

    2015-01-01

    The ability to navigate new environments has a significant impact on the daily life and independence of people with learning difficulties. The aims of this study were to investigate the development of route learning in Down syndrome (N = 50), Williams syndrome (N = 19), and typically developing children between 5 and 11 years old (N = 108); to…

  17. Clinical Characteristics of Dysphagia in Children with Down Syndrome.

    Science.gov (United States)

    Jackson, Arwen; Maybee, Jennifer; Moran, Maura K; Wolter-Warmerdam, Kristine; Hickey, Francis

    2016-10-01

    Aspiration is an often unrecognized comorbidity in children with Down syndrome with serious medical consequences. This retrospective chart review of swallow study reports characterizes oral and pharyngeal phase dysphagia and diet modifications on videofluoroscopic swallow studies (VFSS) in a large cohort of children with Down syndrome. A total of 158 pediatric patients (male = 95; female = 63; mean age 2.10 years, SD 3.17 years) received an initial VFSS at a pediatric teaching hospital as part of their medical care. A total of 56.3 % (n = 89) children had pharyngeal phase dysphagia with aspiration and deep laryngeal penetration occurring most frequently. Of the 61 patients who aspirated, 90.2 % (n = 55) did so silently with no cough or overt clinical symptoms. In 76.7 % of cases of pharyngeal phase dysphagia, a functional feeding plan, with use of thickened liquids or change in feeding system to control flow rate and/or bolus size, was able to be established, which allowed children to continue eating by mouth. Thickened liquids (76.7 %, n = 46) were the most effective adaptation, with change in feeding system alone effective in only 8.3 % (n = 5) cases. Oral phase dysphagia was reported in the majority of patients (63.8 %, n = 88/138); however, this was not predictive of pharyngeal phase dysphagia. Age, sex, and reason for referral, including prior clinical symptoms, did not have a statistically significant impact on the presence of dysphagia. This comprehensive review has application to clinical understanding and management of dysphagia in children with Down syndrome.

  18. Abnormal course of the vertebral artery at the craniovertebral junction in patients with Down syndrome visualized by three-dimensional CT angiography

    International Nuclear Information System (INIS)

    Yamazaki, Masashi; Okawa, Akihiko; Hashimoto, Mitsuhiro; Aiba, Atsuomi; Someya, Yukio; Koda, Masao

    2008-01-01

    We determined the incidence of vertebral artery (VA) anomalies at the craniovertebral junction (CVJ) in patients with Down syndrome, and characterized the VA anomalies. The course of the VA in 46 consecutive patients who were due to undergo posterior arthrodesis surgery at the CVJ were evaluated by three-dimensional CT angiography (3DCTA). Included were five patients with Down syndrome who suffered from myelopathy due to atlantoaxial subluxation. All five patients with Down syndrome also had a simultaneous congenital skeletal anomaly, either os odontoideum or ossiculum terminale. Of the five patients with Down syndrome, three had VA anomalies at the CVJ, two had fenestration and one had a persistent first intersegmental artery. Of the other 41 patients without Down syndrome, five had VA anomalies at the CVJ. The incidence of VA anomalies at the CVJ was much higher in patients with Down syndrome than in those without Down syndrome. In planning surgery in patients with Down syndrome with symptomatic atlantoaxial subluxation and a congenital skeletal anomaly at the CVJ, we should consider the possible presence of VA anomalies. Preoperative 3DCTA allows us to precisely identify an anomalous VA and evaluate the possible risk of intraoperative VA injury in advance. (orig.)

  19. Abnormal course of the vertebral artery at the craniovertebral junction in patients with Down syndrome visualized by three-dimensional CT angiography

    Energy Technology Data Exchange (ETDEWEB)

    Yamazaki, Masashi; Okawa, Akihiko; Hashimoto, Mitsuhiro; Aiba, Atsuomi; Someya, Yukio; Koda, Masao [Chiba University Graduate School of Medicine, Spine Section, Department of Orthopaedic Surgery, Chiba (Japan)

    2008-06-15

    We determined the incidence of vertebral artery (VA) anomalies at the craniovertebral junction (CVJ) in patients with Down syndrome, and characterized the VA anomalies. The course of the VA in 46 consecutive patients who were due to undergo posterior arthrodesis surgery at the CVJ were evaluated by three-dimensional CT angiography (3DCTA). Included were five patients with Down syndrome who suffered from myelopathy due to atlantoaxial subluxation. All five patients with Down syndrome also had a simultaneous congenital skeletal anomaly, either os odontoideum or ossiculum terminale. Of the five patients with Down syndrome, three had VA anomalies at the CVJ, two had fenestration and one had a persistent first intersegmental artery. Of the other 41 patients without Down syndrome, five had VA anomalies at the CVJ. The incidence of VA anomalies at the CVJ was much higher in patients with Down syndrome than in those without Down syndrome. In planning surgery in patients with Down syndrome with symptomatic atlantoaxial subluxation and a congenital skeletal anomaly at the CVJ, we should consider the possible presence of VA anomalies. Preoperative 3DCTA allows us to precisely identify an anomalous VA and evaluate the possible risk of intraoperative VA injury in advance. (orig.)

  20. Amniocentesis increases level of anxiety in women with invasive prenatal diagnosis of Down syndrome

    Directory of Open Access Journals (Sweden)

    Yanuarita Tursinawati

    2015-08-01

    Full Text Available Backgound Invasive prenatal diagnosis (PND through amniocentesis and chorionic villus sampling (CVS can detect Down syndrome. Pregnant women usually experience a variety of psychological responses associated with invasive PND. This study is intended to assess depression, anxiety and stress levels and the factors related to their psychological responses in pregnant women with invasive prenatal diagnosis of Down syndrome. Methods A cross sectional study was conducted at Kandang Kerbau Women’s and Children’s Hospital, Singapore. The psychological responses of 70 women undergoing PND were assessed by Depression Anxiety Stress Scale 21 (DASS 21 questionnaire. A multiple linear regression analysis was used to analyze association between knowledge and perceived risk with psychological responses (CI 95% and significance value p13 weeks who had pursued amniocentesis. Women with no previous children had higher levels of depression and stress. Women who pursued amniocentesis had significantly higher anxiety scores compared to women undergoing CVS (p=0.015. Conclusions Women’s psychological responses are associated with gestational age, type of procedure and parity. The level of anxiety increased in women who underwent amniocentesis for diagnosis of Down syndrome. Knowledge and perceived risk of having a baby with Down syndrome do not seem to have psychological effects to women.

  1. Amniocentesis increases level of anxiety in women with invasive prenatal diagnosis of Down syndrome

    Directory of Open Access Journals (Sweden)

    Yanuarita Tursinawati

    2015-12-01

    Full Text Available Backgound Invasive prenatal diagnosis (PND through amniocentesis and chorionic villus sampling (CVS can detect Down syndrome. Pregnant women usually experience a variety of psychological responses associated with invasive PND. This study is intended to assess depression, anxiety and stress levels and the factors related to their psychological responses in pregnant women with invasive prenatal diagnosis of Down syndrome. Methods A cross sectional study was conducted at Kandang Kerbau Women’s and Children’s Hospital, Singapore. The psychological responses of 70 women undergoing PND were assessed by Depression Anxiety Stress Scale 21 (DASS 21 questionnaire. A multiple linear regression analysis was used to analyze association between knowledge and perceived risk with psychological responses (CI 95% and significance value p13 weeks who had pursued amniocentesis. Women with no previous children had higher levels of depression and stress. Women who pursued amniocentesis had significantly higher anxiety scores compared to women undergoing CVS (p=0.015. Conclusions Women’s psychological responses are associated with gestational age, type of procedure and parity. The level of anxiety increased in women who underwent amniocentesis for diagnosis of Down syndrome. Knowledge and perceived risk of having a baby with Down syndrome do not seem to have psychological effects to women.

  2. Coenzyme Q10 and pro-inflammatory markers in children with Down syndrome: clinical and biochemical aspects

    Directory of Open Access Journals (Sweden)

    Moushira E. Zaki

    2017-01-01

    Conclusion: Interleukin 6 and tumor necrosis factor α levels in young children with Down syndrome may be used as biomarkers reflecting the neurodegenerative process in them. Coenzyme Q10 might have a role as a good supplement in young children with Down syndrome to ameliorate the neurological symptoms.

  3. Joint attention in Down syndrome: A meta-analysis.

    Science.gov (United States)

    Hahn, Laura J; Loveall, Susan J; Savoy, Madison T; Neumann, Allie M; Ikuta, Toshikazu

    2018-07-01

    Some studies have indicated that joint attention may be a relative strength in Down syndrome (DS), but other studies have not. To conduct a meta-analysis of joint attention in DS to more conclusively determine if this is a relative strength or weakness when compared to children with typical development (TD), developmental disabilities (DD), and autism spectrum disorder (ASD). Journal articles published before September 13, 2016, were identified by using the search terms "Down syndrome" and "joint attention" or "coordinating attention". Identified studies were reviewed and coded for inclusion criteria, descriptive information, and outcome variables. Eleven studies (553 participants) met inclusion criteria. Children with DS showed similar joint attention as TD children and higher joint attention than children with DD and ASD. Meta-regression revealed a significant association between age and joint attention effect sizes in the DS vs. TD contrast. Joint attention appears to not be a weakness for children with DS, but may be commensurate with developmental level. Joint attention may be a relative strength in comparison to other skills associated with the DS behavioral phenotype. Early interventions for children with DS may benefit from leveraging joint attention skills. Copyright © 2018 Elsevier Ltd. All rights reserved.

  4. Leisure Activity and Caregiver Involvement in Middle-Aged and Older Adults With Down Syndrome

    OpenAIRE

    Mihaila, Iulia; Hartley, Sigan L.; Handen, Benjamin L.; Bulova, Peter D.; Tumuluru, Rameshwari V.; Devenny, Darlynne A.; Johnson, Sterling C.; Lao, Patrick J.; Christian, Bradley T.

    2017-01-01

    The present study examined leisure activity and its association with caregiver involvement (i.e., residence and time spent with primary caregiver) in 62 middle-aged and older adults with Down syndrome (aged 30–53 years). Findings indicated that middle-aged and older adults with Down syndrome frequently participated in social and passive leisure activities, with low participation in physical and mentally stimulating leisure activities. Residence and time spent with primary caregiver were assoc...

  5. Debunking Myths: Reading Development in Children with Down Syndrome

    Science.gov (United States)

    Cologon, Kathy

    2013-01-01

    There is a considerable and growing body of research investigating reading development in children with Down syndrome. However, there appears to be a common gap between the research evidence and instructional practices. It has been argued that teachers have insufficient information to enable them to implement effective literacy instruction with…

  6. Positive Adjustment in Parents Rearing Children with Down Syndrome.

    Science.gov (United States)

    Flaherty, Evelyn M.; Glidden, Laraine Masters

    2000-01-01

    Compared adjustment in adoptive and biological parents rearing 1- to 12-year-olds with Down syndrome. Found that birth mothers and fathers were functioning quite similarly to adoptive mothers and fathers on family strengths, marital adjustment, and resources and stress. Birth mothers displayed higher personal burden than adoptive mothers, with the…

  7. Equine Assisted Therapy and Changes in Gait for a Young Adult Female with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Katherine J. Coffey

    2015-10-01

    Full Text Available The purpose of this study was to examine the effects of equine assisted therapy on selected gait parameters in a person with Down syndrome. One female participant with Down syndrome completed two therapeutic horseback riding programs, each consisting of six riding sessions. Specific gait characteristics were analyzed with a trend analysis of the data by examining the means of the different variables. The trend analysis revealed a difference in stride length as well as hip and knee angle. These results indicate that over the course of the two therapeutic horseback riding programs, changes in gait occurred. Therefore, therapeutic horseback riding may have the potential to benefit gait characteristics and stability in young adult females with Down syndrome; however, further research is warranted.

  8. Auditory and Visual Memory Span: Cognitive Processing by TMR Individuals with Down Syndrome or Other Etiologies.

    Science.gov (United States)

    Varnhagen, Connie K.; And Others

    1987-01-01

    Auditory and visual memory span were examined with 13 Down Syndrome and 15 other trainable mentally retarded young adults. Although all subjects demonstrated relatively poor auditory memory span, Down Syndrome subjects were especially poor at long-term memory access for visual stimulus identification and short-term storage and processing of…

  9. Growth and development profile of Indian children with Down syndrome.

    Science.gov (United States)

    Koshy, Beena; Navamani, Kirubakaran; Oommen, Samuel Philip; Srivastava, Vivi M

    2012-08-01

    In this retrospective study, we describe the profile of 88 children with Down syndrome. The average BMI for children showed a progressive increase with age. Compared to the previously published development profile, there was a significant improvement in the language domain.

  10. Prenatal diagnosis of Down syndrome: A 13-year retrospective study

    Directory of Open Access Journals (Sweden)

    Ana Vičić

    2017-12-01

    Conclusion: In prenatal diagnosis of Down syndrome noninvasive screening methods are important for estimation of individual risks, in both, young population of woman and older mothers, while conventional and molecular cytogenetic methods are essential for definite diagnosis and proper genetic counseling.

  11. Down's syndrome in the Lothian region of Scotland - 1978 to 1989

    International Nuclear Information System (INIS)

    Ramsay, C.N.; Ellis, P.M.; Zealley, H.

    1991-01-01

    A study of Down's syndrome in Lothian for the years 1978-1989 revealed a significantly higher than expected incidence of cases in 1987. The increased incidence was particularly significant among women aged 35 years or more. The increase could not be attributed to demographic changes on birth rates or to the age distribution of the women concerned. A temporal association between the cluster of cases and the events at Chernobyl in April 1986 was demonstrated. However, according to current understanding, there is no biologically plausible explanation to link the 2 events, given the reported levels of radioactive fallout in the Lothian region, resulting from the Chernobyl disaster. An explanation for the increased incidence of Down's syndrome in 1987 remains outstanding

  12. Sex and Genes, Part 1: Sexuality and down, Prader-Willi, and Williams Syndromes

    Science.gov (United States)

    Watson, Shelley Lynn; Richards, Deborah A.; Miodrag, Nancy; Fedoroff, J. Paul

    2012-01-01

    Specific genetic syndromes affect individuals' sexual development, experiences, and fertility. Individuals with specific syndromes can also display inappropriate sexual behavior resulting from vulnerabilities presented by their genetic makeup. Using clinical case studies, we discuss the specific impact that Down, Prader-Willi, and Williams…

  13. Monozygotic twin discordant for Down syndrome: mos 47,XX,+21/46,XX and 46,XX.

    Science.gov (United States)

    Choi, Sun Ah; Ko, Jung Min; Shin, Choong Ho; Yang, Sei Won; Choi, Jin Sun; Oh, Sun Kyung

    2013-08-01

    Monozygotic twins, developed from a single zygote, are almost identical in clinical phenotype and concordant karyotypes. Monozygotic twins with discordant karyotypes are thought to be quite rare. Here, we report monochorionic-diamniotic twins discordant for Down syndrome. On findings of prenatal ultrasonography, nuchal translucency thickness was different between twins, and suggested that one of the twins was at high risk for having chromosomal abnormalities including Down syndrome. The twins were monochorionic-diamniotic; therefore, chorionic villi sampling of the common placenta was performed. The karyotype of the chorionic villi cells was 46,XX, and pregnancy was maintained. After delivery, dysmorphic clinical features suggesting Down syndrome were found in one of the twins, while the other twin showed a morphologically normal appearance. Karyotypes of peripheral blood leukocytes were repeatedly normal in the dysmorphic twin; however, the karyotype of skin fibroblasts from the dysmorphic twin indicated Down syndrome mosaicism; 47,XX,+21[99]/46,XX[2]. The karyotype of skin fibroblasts from the morphologically normal twin was 46,XX. Monozygosity of the twins was confirmed by a short tandem repeat analysis using 16 polymorphic markers. A mitotic nondisjunction followed by the twinning would explain the discordant karyotypes between monozygotic twins.

  14. Actual Leisure Participation of Norwegian Adolescents with Down Syndrome

    Science.gov (United States)

    Dolva, Anne-Stine; Kleiven, Jo; Kollstad, Marit

    2014-01-01

    This article reports the actual participation in leisure activities by a sample of Norwegian adolescents with Down syndrome aged 14. Representing a first generation to grow up in a relatively inclusive context, they live with their families, attend mainstream schools, and are part of common community life. Leisure information was obtained in…

  15. Training Phoneme Blending Skills in Children with Down Syndrome

    Science.gov (United States)

    Burgoyne, Kelly; Duff, Fiona; Snowling, Maggie; Buckley, Sue; Hulme, Charles

    2013-01-01

    This article reports the evaluation of a 6-week programme of teaching designed to support the development of phoneme blending skills in children with Down syndrome (DS). Teaching assistants (TAs) were trained to deliver the intervention to individual children in daily 10-15-minute sessions, within a broader context of reading and language…

  16. Gross Motor Skill Acquisition in Adolescents with Down Syndrome

    Science.gov (United States)

    Meegan, Sarah; Maraj, Brian K. V.; Weeks, Daniel; Chua, Romeo

    2006-01-01

    The purpose of this study was to assess whether verbal-motor performances deficits exhibited by individuals with Down syndrome limited their ability to acquire gross motor skills when given visual and verbal instruction together and then transferred to either a visual or verbal instructional mode to reproduce the movement. Nine individuals with…

  17. Adaptation in families of children with Down syndrome in East Asian countries: an integrative review.

    Science.gov (United States)

    Choi, Hyunkyung; Van Riper, Marcia

    2017-08-01

    The purpose of this integrative literature review was to understand the experiences of East Asian families of children with Down syndrome and identify factors affecting their adaptation in the Resiliency Model of Family Stress, Adjustment and Adaptation. Socio-cultural factors influence how well families adapt following the birth of a child with Down syndrome. Existing literature in this area has focused primarily on families from Western cultures. This is problematic because nurses care for families from all over the world. Therefore, the focus of this review is on families of children with Down syndrome living in East Asia, where Confucianism is dominant. Integrative literature review. Online databases (i.e. PubMed, CINAHL and PsycINFO) and a public search engine (i.e. Google Scholar) were used along with manual searches of reference lists and major journals. Studies were limited to original publications written in English and published between 1990-2014. Two authors independently performed integrative review processes proposed by Whittemore and Knafl and a quality assessment using the Mixed Methods Appraisal Tool. Like families in Western cultures, some East Asian families of children with Down syndrome adapted well and even thrived while others struggled. Various socio-cultural factors, including some associated with Confucianism, played a role in how individuals, dyads and families adapted. An understanding of socio-cultural influences can help nurses implement culturally sensitive family-centred interventions with families of children with Down syndrome. It may also facilitate policy changes concerning resources for these families. © 2016 John Wiley & Sons Ltd.

  18. Caregiver Report of Executive Functioning in a Population-Based Sample of Young Children with Down Syndrome

    Science.gov (United States)

    Lee, Nancy Raitano; Fidler, Deborah J.; Blakeley-Smith, Audrey; Daunhauer, Lisa; Robinson, Cordelia; Hepburn, Susan L.

    2011-01-01

    The current study describes everyday executive function (EF) profiles in young children with Down syndrome. Caregivers of children with Down syndrome (n = 26; chronological ages = 4-10 years; mental ages = 2-4 years) completed the Behavior Rating Inventory of Executive Function-Preschool (BRIEF-P; G. A. Gioia, K. A. Espy, & P. K. Isquith, 2003), a…

  19. Contributors to Adult Sibling Relationships and Intention to Care of Siblings of Individuals with Down Syndrome

    Science.gov (United States)

    Cuskelly, Monica

    2016-01-01

    The contribution of childhood sibling relationships to adult sibling relationships and intention to provide care was investigated in a sample in which one member of each dyad had Down syndrome. Thirty-nine adult siblings of an adult with Down syndrome who had participated in a study of sibling relationships in childhood/adolescence provided data…

  20. Inferential processes in readers with Down syndrome

    Directory of Open Access Journals (Sweden)

    Rosende-Vázquez, Marta

    2013-03-01

    Full Text Available The aim of this work is to know if the source of the difficulty in making inferences, readers with Down syndrome, is in access to prior knowledge or constructing ideas from purely textual knowledge (based on Saldaña and Frith, 2002 for autism. Involved a sample of 20 students with Down syndrome and mild mental retardation (mean IQ = 60 and a control group of 20 children without cognitive deficits. They were matched as to their extent read metal age via Prueba de Evaluación del Retraso Lector (average 8 years. We created two experimental situations: a subjects had to generate inferences based on physical knowledge, b social inferences about knowledge. The ability to check and reaction times in the activation of inferences about physical and social knowledge. We also analyzed the influence that the effect "priming". Results showed: a a rate of correct inferences similar verification tasks between the two groups, b Down subjects take longer to access knowledge that the previous text, c reaction times used by subjects Down were higher in activating physical inferences, d there were no significant differences in the population without reaction times gap between physical and social inferences e subjects without deficits benefited effect "priming" in both types of inferences f Down subjects only improve reaction time in the inferences of social nature. El presente estudio pretende conocer si el origen de la dificultad para realizar inferencias, en lectores con Síndrome de Down, se encuentra en el acceso al conocimiento previo o en la construcción de ideas a partir del conocimiento puramente textual (basándonos en Saldaña y Frith, 2002 para autismo. Participó una muestra de 20 alumnos con Síndrome de Down y discapacidad mental leve (media de C.I.= 60 y un grupo control de 20 alumnos sin déficit cognitivo. Ambos fueron igualados en cuanto a su edad mental lectora medida a través de la Prueba de Evaluación del Retraso Lector (media 8 a

  1. Effectiveness of Responsive Teaching with Children with Down Syndrome

    Science.gov (United States)

    Karaaslan, Ozcan; Mahoney, Gerald

    2013-01-01

    A randomized control study was conducted to evaluate Responsive Teaching (RT) with a sample of 15 Turkish preschool aged children with Down syndrome (DS) and their mothers over a six-month period of time. RT is an early intervention curriculum that attempts to promote children's development by encouraging parents to engage in highly responsive…

  2. Prevalence of Bruxism among Mexican Children with Down Syndrome

    Science.gov (United States)

    Lopez-Perez, Ruben; Lopez-Morales, Patricia; Borges-Yanez, S. Aida; Maupome, Gerardo; Pares-Vidrio, Gustavo

    2007-01-01

    This study sought to determine the prevalence of bruxism in a Mexican community of children with Down syndrome, and to evaluate bruxism's relationship with age, sex, intellectual disability level, and type of chromosomal abnormality of trisomy 21. Using a cross-sectional design, 57 boys and girls (3 to 14 years old) were examined. Three approaches…

  3. Family functioning in families with a child with Down syndrome: a mixed methods approach.

    Science.gov (United States)

    Povee, K; Roberts, L; Bourke, J; Leonard, H

    2012-10-01

    This study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design. The quantitative component examined the effect of maladaptive and autism-spectrum behaviours on the functioning of the family while the qualitative component explored the impact of having a child with Down syndrome on family holidays, family activities and general family functioning. Participants in this study were 224 primary caregivers of children with Down syndrome aged 4-25 years (57.1% male; 42.9% female) currently residing in Western Australia (74.0% in metropolitan Perth and 26.0% in rural Western Australia). Maladaptive and autism-spectrum behaviour were associated with poorer family functioning. Mean total scores on the measures of family functioning and marital adjustment were comparable to that of families of typically developing children. Consistent with the quantitative findings, normality was the most common theme to emerge in the qualitative data. Child problem behaviours were also identified by parents/carers as having a negative impact on the family. This study has implications for the development of programs to support families with a child with Down syndrome and may dispel some of the myths surrounding the impact of intellectual disability on the family. © 2012 The Authors. Journal of Intellectual Disability Research © 2012 Blackwell Publishing Ltd.

  4. Down syndrome: issues to consider in a national registry, research database and biobank.

    Science.gov (United States)

    McCabe, Linda L; McCabe, Edward R B

    2011-01-01

    As the quality of life for individuals with Down syndrome continues to improve due to anticipatory healthcare, early intervention, mainstreaming in schools, and increased expectations, the lack of basic information regarding individuals with Down syndrome is being recognized, and the need to facilitate research through a national registry, research database and biobank is being discussed. We believe that there should not be ownership of the samples and information, but instead prefer stewardship of the samples and information to benefit the participants who provided them. We endorse a model with data and sample managers and a research review board to interface between the investigators and participants. Information and samples would be coded, and only a few data managers would know the relationship between the codes and identifying information. Research results once published should be included in an online newsletter. If appropriate, individual results should be shared with participants. A Down syndrome registry, research database and biobank should be accountable to participants, families, medical care providers, government, and funding sources. Copyright © 2011 Elsevier Inc. All rights reserved.

  5. Therapeutic Efficacy and Safety of GH in Japanese Children with Down Syndrome Short Stature Accompanied by GH Deficiency

    OpenAIRE

    Meguri, Kyoko; Inoue, Masaru; Narahara, Koji; Sato, Takahiro; Takata, Ami; Ohki, Nobuhiko; Ozono, Keiichi

    2013-01-01

    In this study, we investigated the effects of GH treatment in children with Down syndrome who had been diagnosed with GH deficiency (GHD). A total of 20 subjects were investigated in this study. Fourteen Down syndrome children (5 boys and 9 girls) with short stature due to GHD were treated with GH at Okayama Red Cross General Hospital, and 6 Down syndrome children (4 boys and 2 girls) with short stature due to GHD were registered in the Pfizer International Growth Database (KIGS). Height SD s...

  6. Oxidative stress, thyroid dysfunction & Down syndrome

    Directory of Open Access Journals (Sweden)

    Carlos Campos

    2015-01-01

    Full Text Available Down syndrome (DS is one of the most common chromosomal disorders, occurring in one out of 700-1000 live births, and the most common cause of mental retardation. Thyroid dysfunction is the most typical endocrine abnormality in patients with DS. It is well known that thyroid dysfunction is highly prevalent in children and adults with DS and that both hypothyroidism and hyperthyroidism are more common in patients with DS than in the general population. Increasing evidence has shown that DS individuals are under unusual increased oxidative stress, which may be involved in the higher prevalence and severity of a number of pathologies associated with the syndrome, as well as the accelerated ageing observed in these individuals. The gene for Cu/Zn superoxide dismutase (SOD1 is coded on chromosome 21 and it is overexpressed (~50% resulting in an increase of reactive oxygen species (ROS due to overproduction of hydrogen peroxide (H 2 O 2 . ROS leads to oxidative damage of DNA, proteins and lipids, therefore, oxidative stress may play an important role in the pathogenesis of DS.

  7. Maternal and paternal pragmatic speech directed to young children with Down syndrome and typical development

    OpenAIRE

    de Falco, Simona; Venuti, Paola; Esposito, Gianluca; Bornstein, Marc H.

    2011-01-01

    The aim of this study was to compare functional features of maternal and paternal speech directed to children with Down syndrome and developmental age-matched typically developing children. Altogether 88 parents (44 mothers and 44 fathers) and their 44 young children (22 children with Down syndrome and 22 typically developing children) participated. Parents’ speech directed to children was obtained through observation of naturalistic parent–child dyadic interactions. Verbatim transcripts of m...

  8. Families of 30-35-Year Olds with Down's Syndrome

    Science.gov (United States)

    Carr, Janet

    2005-01-01

    Background: The families of a population sample of people with Down's syndrome (DS), and of their non-disabled controls, have been followed since early childhood, and the families have now been seen again as their sons and daughters reached age 30 and 35 years. Methods: A semi-structured interview schedule was used, including items from the…

  9. Behaviour Problems in the Siblings of Children with Down Syndrome: Associations with Family Responsibilities and Parental Stress.

    Science.gov (United States)

    Cuskelly, Monica; Hayes, Alan; Chant, David

    1998-01-01

    Forty-five Australian families with children with Down syndrome and 88 comparison families provided information about their children's behavior problems and involvement in household tasks. For the brothers of children with Down syndrome, significant negative correlations between household tasks and behavior problems were found on fathers' reports.…

  10. Brain CT studies in 26 cases of aged patients with Down syndrome

    International Nuclear Information System (INIS)

    Arai, Yukio; Yoshihara, Sachiko; Iinuma, Kazuso.

    1995-01-01

    Computed tomographic images of brains from 26 individuals (10 males and 16 females) with Down syndrome were analysed for roentgenographic measurement. Their ages ranged from 14 to 47 years, the average being 28 years. The results showed that their Sylvian fissure ratio was larger in the aged group. A high incidence of calcification in basal ganglia, choroid plexus and pineal body was noted (85%). An increased Sylvian fissure ratio and a high incidence of intracranial calcification may be practically used as representatives of premature aging. Furthermore, a high incidence of mega cisterna magna implicates that it is worthy of study whether individuals with Down syndrome have a predisposition to underdevelopment of cerebellum. (author)

  11. [Urgent surgical treatment of gastric volvulus related to upside-down stomach syndrome].

    Science.gov (United States)

    Hána, L; Kasalický, M; Koblihová, E; Suchánek, Š; Horažďovský, P; Ryska, M

    2015-12-01

    Upside-down stomach syndrome is a rare type of a large paraoesophageal hiatal hernia, which requires an immediate surgical treatment in case of incarceration. The authors present a case report of a 53-year-old male patient with gastric volvulus related to the upside-down stomach syndrome. Surgical treatment was complicated by an injury to distal oesophagus, which was successfully treated using a self-expandable metallic stent among other methods. Despite the complicated postoperative course with a necessity of reoperation, insertion of an oesophageal stent, thoracotomy for a mediastinal abscess and secondary healing of the laparotomy, the patient was discharged in a good condition with healed oesophageal perforation and laparotomy after 52 days.

  12. The Prevalence of Celiac Disease in Down syndrome Children with and without Congenital Heart Defects

    Directory of Open Access Journals (Sweden)

    Noor Mohammad Noori

    2016-07-01

    Full Text Available Background The prevalence of celiac disease (CD is remarkably varied in Down syndrome(DSpatientscompared with other diseases.  This study aimed to assess celiac disease prevalence in Down syndrome children with and without congenital heart defects (CHD and its comparison with controls. Materials and Methods This case-control study was performed at a single center on 132 participants in three groups. Clinical and genetic tests were performed on all patients suspected with Down syndrome to confirm their diseases.  After that in patients with confirmed Down syndrome echocardiography was carried out to diagnosis of CHD. Healthy children selected randomly among those who referred to the center for annual check-up. Statistical evaluation was done using SPSS-16. Results For the factors of age, weight, height and Body Mass Index (BMI not observed significant differences between three groups of participants, but it would be observed statistically differences for the variable of tTG- IgA.  For variables of weight, tTG- IgA and BMI was observed statistically different in the case and controls. The status of tTG- IgA (normal or 20 had significant correlation with three groups of controls, Down syndrome with and without CHD. The status of tTG- IgA also had significant correlation with groups of case and controls. In comparison of tTG- IgA in DS patients with and without CHD, no significant differences were observed. Conclusion The prevalence of CD in DS patients was higher compared the controls population; and in DS patients with CHD was higher compared the DS patients without CHD.

  13. Prenatal screening for Down syndrome: a survey of health care ...

    African Journals Online (AJOL)

    Background: Down Syndrome (DS) is a common genetic disorder that is associated with high intrauterine lethality. Morbidity for the survivors includes congenital anomalies and Intellectual Disability (ID). Genetic screening for DS is an ever evolving field with remarkable progress made over the years. Health care workers ...

  14. Fundamental Movement Skills and Balance of Children with Down Syndrome

    Science.gov (United States)

    Capio, C. M.; Mak, T. C. T.; Tse, M. A.; Masters, R. S. W.

    2018-01-01

    Background: Conclusive evidence supports the importance of fundamental movement skills (FMS) proficiency in promoting physical activity and countering obesity. In children with Down Syndrome (DS), FMS development is delayed, which has been suggested to be associated with balance deficits. This study therefore examined the relationship between FMS…

  15. Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality

    Directory of Open Access Journals (Sweden)

    Gioconda Manassero-Morales

    2016-01-01

    Full Text Available Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case Report. Female, 28 months old, with pathological short stature from birth, with the following dysmorphic features: tilted upward palpebral fissures, short neck, brachycephaly, and low-set ears. During the neonatal period, the infant presented generalized hypotonia and lymphedema of hands and feet. Karyotype showed 47,X,r(X,+21 [30]. Conclusion. Clinical features of both Down and Turner syndromes were found, highlighting short stature that has remained below 3 z score from birth to the present, associated with delayed psychomotor development. G-banded karyotype analysis in peripheral blood is essential for a definitive diagnosis.

  16. Auditory and Visual Sequential Memory of Down Syndrome and Nonretarded Children.

    Science.gov (United States)

    Marcell, Michael M.; Armstrong, Virginia

    1982-01-01

    Results of three studies involving Down syndrome students suggested that the auditory-visual recall difference evidenced by nonretarded but not by retarded Ss may have been due to the differential use of information in echoic memory. (Author)

  17. A prospective 20-year longitudinal follow-up of dementia in persons with Down syndrome.

    Science.gov (United States)

    McCarron, M; McCallion, P; Reilly, E; Dunne, P; Carroll, R; Mulryan, N

    2017-09-01

    To examine dementia characteristics, age at onset and associated co-morbidities in persons with Down syndrome. A total of 77 people with Down syndrome aged 35 years and older were followed up from 1996 to 2015. The diagnosis of dementia was established using the modified ICD 10 Criteria and a combination of objective and informant-based tests. Cognitive tests included the Test for Severe Impairment and the Down Syndrome Mental Status Examination; adaptive behaviour was measured using the Daily Living Skills Questionnaire, and data from the Dementia Questionnaire for People with Intellectual Disabilities have been available since 2005. Over the 20-year period, 97.4% (75 of 77) persons developed dementia with a mean age of dementia diagnosis of 55 years (SD = 7.1, median = 56 years). Clinical dementia was associated with cognitive and function decline and seizure activity. Risk for dementia increased from 23% in those aged 50 years to 80% in those aged 65 years and above. There were no differences by level of ID. The previously reported high risk levels for dementia among people with Down syndrome were confirmed in this data as was the relationship with late onset epilepsy. The value of the instruments utilised in tracking decline and helping to confirm diagnosis is further highlighted. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  18. The Dental Needs and Treatment of Patients with Down Syndrome.

    Science.gov (United States)

    Mubayrik, Azizah Bin

    2016-07-01

    Down syndrome is a common disorder with many oral conditions and systemic manifestations. Dentists need to take a holistic approach including behavioral, oral, and systemic issues. This review of the literature focuses on oral anomalies, systemic interaction, management, and recommendations. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Infection and immunity in Down syndrome: a trial of long-term low oral doses of zinc.

    Science.gov (United States)

    Lockitch, G; Puterman, M; Godolphin, W; Sheps, S; Tingle, A J; Quigley, G

    1989-05-01

    To determine whether orally administered zinc supplements could correct the abnormal humoral and cell-mediated immunity of Down syndrome, we randomly assigned 64 children with Down syndrome, aged 1 to 19 years and living at home, to receive either zinc gluconate or placebo daily for 6-month periods with crossover from one regimen to another. Control subjects were siblings and age-matched, unrelated children. Serum zinc, copper, and measures of immune system competence were tested at 3- or 6-month intervals. Parents kept daily logs of clinical symptoms such as cough and diarrhea and of physician visits. Mean serum zinc concentrations increased to about 150% of baseline during zinc supplementation, but we found no effect on serum levels of copper, immunoglobulins, or complement; on lymphocyte number or subset distribution; or on in vitro response to mitogens. Children with Down syndrome who were receiving zinc had a trend toward fewer days or episodes of cough and fever but no change in other clinical variables. Long-term, low-dose oral zinc supplementation to improve depressed immune response or to decrease infections in children with Down syndrome cannot be recommended.

  20. Analysis of Movement Acceleration of Down's Syndrome Teenagers Playing Computer Games.

    Science.gov (United States)

    Carrogi-Vianna, Daniela; Lopes, Paulo Batista; Cymrot, Raquel; Hengles Almeida, Jefferson Jesus; Yazaki, Marcos Lomonaco; Blascovi-Assis, Silvana Maria

    2017-12-01

    This study aimed to evaluate movement acceleration characteristics in adolescents with Down syndrome (DS) and typical development (TD), while playing bowling and golf videogames on the Nintendo ® Wii™. The sample comprised 21 adolescents diagnosed with DS and 33 with TD of both sexes, between 10 and 14 years of age. The arm swing accelerations of the dominant upper limb were collected as measures during the bowling and the golf games. The first valid measurement, verified by the software readings, recorded at the start of each of the games, was used in the analysis. In the bowling game, the groups presented significant statistical differences, with the maximum (M) peaks of acceleration for the Male Control Group (MCG) (M = 70.37) and Female Control Group (FCG) (M = 70.51) when compared with Male Down Syndrome Group (MDSG) (M = 45.33) and Female Down Syndrome Group (FDSG) (M = 37.24). In the golf game the groups also presented significant statistical differences, the only difference being that the maximum peaks of acceleration for both male groups were superior compared with the female groups, MCG (M = 74.80) and FCG (M = 56.80), as well as in MDSG (M = 45.12) and in FDSG (M = 30.52). It was possible to use accelerometry to evaluate the movement acceleration characteristics of teenagers diagnosed with DS during virtual bowling and golf games played on the Nintendo Wii console.

  1. Association of achondroplasia with Down syndrome: difficulty in prenatal diagnosis by sonographic and 3-D helical computed tomographic analyses.

    Science.gov (United States)

    Kaga, Akimune; Murotsuki, Jun; Kamimura, Miki; Kimura, Masato; Saito-Hakoda, Akiko; Kanno, Junko; Hoshi, Kazuhiko; Kure, Shigeo; Fujiwara, Ikuma

    2015-05-01

    Achondroplasia and Down syndrome are relatively common conditions individually. But co-occurrence of both conditions in the same patient is rare and there have been no reports of fetal analysis of this condition by prenatal sonographic and three-dimensional (3-D) helical computed tomography (CT). Prenatal sonographic findings seen in persons with Down syndrome, such as a thickened nuchal fold, cardiac defects, and echogenic bowel were not found in the patient. A prenatal 3-D helical CT revealed a large head with frontal bossing, metaphyseal flaring of the long bones, and small iliac wings, which suggested achondroplasia. In a case with combination of achondroplasia and Down syndrome, it may be difficult to diagnose the co-occurrence prenatally without typical markers of Down syndrome. © 2014 Japanese Teratology Society.

  2. Radiosensitive Down syndrome lymphoblastoid lines have normal ionizing-radiation-induced inhibition of DNA synthesis

    International Nuclear Information System (INIS)

    Ganges, M.B.; Robbins, J.H.; Jiang, H.; Hauser, C.; Tarone, R.E.

    1988-01-01

    The extent of X-ray-induced inhibition of DNA synthesis was determined in radiosensitive lymphoblastoid lines from 3 patients with Down syndrome and 3 patients with ataxia telangiectasia (AT). Compared to 6 normal control lines, the 3 AT lines were abnormally resistant to X-ray-induced inhibition of DNA synthesis, while the 3 Down syndrome lines had normal inhibition. These results demonstrate that radiosensitive human cells can have normal X-ray-induced inhibition of DNA synthesis and provide new evidence for the dissociation of radioresistant DNA synthesis. (author). 27 refs.; 1 fig.; 1 tab

  3. MicroRNA Expression Profile in the Prenatal Amniotic Fluid Samples of Pregnant Women with Down Syndrome.

    Science.gov (United States)

    Karaca, Emin; Aykut, Ayça; Ertürk, Biray; Durmaz, Burak; Güler, Ahmet; Büke, Barış; Yeniel, Ahmet Özgür; Ergenoğlu, Ahmet Mete; Özkınay, Ferda; Özeren, Mehmet; Kazandı, Mert; Akercan, Fuat; Sağol, Sermet; Gündüz, Cumhur; Çoğulu, Özgür

    2018-03-15

    Down syndrome, which is the most common human chromosomal anomaly that can affect people of any race and age, can be diagnosed prenatally in most cases. Prenatal diagnosis via culture method is time-consuming; thus, genetic analysis has thus been introduced and is continually being developed for rapid prenatal diagnosis. For this reason, the effective use of microRNA profiling for the rapid analysis of prenatal amniotic fluid samples for the diagnosis of Down syndrome was investigated. To evaluate the expression levels of 14 microRNAs encoded by chromosome 21 in amniotic fluid samples and their utility for prenatal diagnosis of Down syndrome. Case-control study. We performed invasive prenatal testing for 56 pregnant women; 23 carried fetuses with Down syndrome, and 33 carried fetuses with a normal karyotype. Advanced maternal age and increased risk for Down syndrome in the screening tests were indications for invasive prenatal testing. The age of gestation in the study and control groups ranged between 17 and 18 weeks. The expression levels of microRNA were measured by real-time polymerase chain reaction. The expression levels of microRNA-125b-2, microRNA-155 , and microRNA-3156 were significantly higher in the study group than in the control group. The presence of significantly dysregulated microRNAs may be associated with either the phenotype or the result of abnormal development. Further large-scale comparative studies conducted in a variety of conditions may bring novel insights in the field of abnormal prenatal conditions.

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

    OpenAIRE

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

    1986-01-01

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

  5. Congenital Heart Disease in Children with Down syndrome in Kermanshah, West of Iran during 2002 - 2016

    Directory of Open Access Journals (Sweden)

    Zahra Jalili

    2017-11-01

    Full Text Available Background Down syndrome is the most common chromosomal anomaly. Dysmorphic features can occur in several organs in this syndrome. Cardiac anomalies with a prevalence of 50% are the most common anomalies responsible for death during the first two years of life. We aimed to determine the prevalence of cardiac anomalies among Down syndrome patients admitted to two tertiary hospitals in Kermanshah, Iran from 2002 to 2016. Materials and Methods In this descriptive study, the medical records of all patients with Down syndrome admitted to two university hospitals namely Imam Ali and Imam Reza, Kermanshah city located in Western part of Iran in the study period were reviewed. All patients had received Echocardiography two-dimensional (2D. The required data including cardiac anomaly type, consanguinity of parents, maternal age, surgical interventions, and survival were collected into a checklist. Results:  During the study period, 166 patients with Down syndrome had received diagnostic and therapeutic services in the studied hospitals. There were 70 males (42.2% and 96 females (57.8%. Familial consanguinity was documented in 95 patients (57.2%. Mean ± standard deviation (SD maternal age at delivery was 26.33 (±4.7 years (range, 15 to 45 years. Of 166 studied patients, 123 (74.1% had cardiac anomaly. Ventricular septal defect (VSD was the most prevalent single defect seen in 32 (26% patients, followed by atrial septal defect (ASD detected in in 22 (17.8% patients. Seventy patients (42.1% required surgical interventions. A total of 74 patients experienced relative improvement of the symptoms. Also, seven patients (10.2% died including five females and two males. Conclusion: The frequency of cardiac anomalies in the studied population of Down syndrome patients was higher than former reported figures. The pattern of the anomalies is compatible with some former reports, but contradicts other reports.

  6. Down Syndrome Temperament: The Stereotype at Middle Childhood and Adolescence.

    Science.gov (United States)

    Gunn, Pat; Cuskelly, Monica

    1991-01-01

    Behavioral ratings by mothers and teachers of 94 children with Down's Syndrome (between 8 and 14 years of age) indicated general support for the amiable personality stereotype, but ratings of low persistence were associated with maternal impressions of difficulty. There was little agreement between mothers and teachers regarding individual child…

  7. Diagnosing Alzheimer's Dementia in Down Syndrome: Problems and Possible Solutions

    Science.gov (United States)

    Nieuwenhuis-Mark, Ruth E.

    2009-01-01

    It is widely accepted that people with Down syndrome are more likely than the general population to develop Alzheimer's dementia as they age. However, the diagnosis can be problematic in this population for a number of reasons. These include: the large intra-individual variability in cognitive functioning, the different diagnostic and…

  8. Delay and poor diagnosis of Down syndrome in KwaZulu-Natal ...

    African Journals Online (AJOL)

    Down syndrome (DS) is the most common chromosomal disorder in newborns, with a birth ... has been undertaken on DS in black African children in SA, and. Christianson's[3] ..... in low- and middle-income countries.[15] If diagnosis, which is ...

  9. mTOR Hyperactivation in down syndrome hippocampus appears early during development

    NARCIS (Netherlands)

    Iyer, Anand M.; van Scheppingen, Jackelien; Milenkovic, Ivan; Anink, Jasper J.; Adle-Biassette, Homa; Kovacs, Gabor G.; Aronica, Eleonora

    2014-01-01

    The mammalian target of rapamycin (mTOR) signaling pathway is a key developmental pathway involved in mechanisms underlying cellular aging and neurodegeneration. We hypothesized that its deregulation may occur during early brain development in patients with Down syndrome (DS). The expression

  10. Differences in Social Motivation in Children with Smith-Magenis Syndrome and Down Syndrome.

    Science.gov (United States)

    Wilde, Lucy; Mitchell, Anna; Oliver, Chris

    2016-06-01

    Social excesses, characterised by heightened social motivation, are important for describing social functioning. Smith-Magenis syndrome (SMS) is a potential exemplar of a disorder where heightened social motivation is associated with negative behavioural outcomes. In Down syndrome (DS) strong social motivation is described, but less commonly associated with behavioural problems. Children with SMS (n = 21) and DS (n = 19) were observed during social situations, in which familiarity of adults present and level of attention available were manipulated. Motivation in SMS was characterised by comparatively frequent social initiations when adult attention was low, and stronger preference for familiar adults, compared to DS. Findings provide insight into the nature of social motivation in SMS and support an argument for nuanced consideration of motivation.

  11. Relationship between family quality of life and day occupations of young people with Down syndrome.

    Science.gov (United States)

    Foley, Kitty-Rose; Girdler, Sonya; Downs, Jenny; Jacoby, Peter; Bourke, Jenny; Lennox, Nick; Einfeld, Stewart; Llewellyn, Gwynnyth; Parmenter, Trevor R; Leonard, Helen

    2014-09-01

    To explore relationships between family quality of life, day occupations and activities of daily living (ADL) of young persons with Down syndrome. Data were collected from 150 families with a young person with Down syndrome aged 16-30 years participating in the Down syndrome "Needs Opinions Wishes" database. Data described the young person's characteristics (including functional abilities, behaviour and day occupations) and family characteristics (including income, family and community supports and quality of life). Compared to families of young people attending open employment, families of young people participating in sheltered employment tended to report poorer family quality of life, after adjusting for personal characteristics, behaviour and income (coeff -6.78, 95 % CI -14.38, 0.81). Family supports reduced this relationship (coeff -6.00, 95 % CI -12.76, 0.76). Families of young people with greater functioning in ADL reported better family quality of life regardless of personal and environmental factors (coeff 0.45, 95 % CI 0.05, 0.85) and inclusion of family factors such as family supports reduced this association (coeff 0.29, 95 % CI -0.10, 0.67). Participation of young people with Down syndrome in open employment may positively influence family quality of life. Services that facilitate functioning in ADL and assist the families in accessing suitable family supports have the potential to positively influence family quality of life.

  12. Verbal short-term memory in Down syndrome: a problem of memory, audition, or speech?

    Science.gov (United States)

    Jarrold, Christopher; Baddeley, Alan D; Phillips, Caroline E

    2002-06-01

    The current study explored three possible explanations of poor verbal short-term memory performance among individuals with Down syndrome in an attempt to determine whether the condition is associated with a fundamental verbal short-term memory deficit. The short-term memory performance of a group of 19 children and young adults with Down syndrome was contrasted with that of two control groups matched for level of receptive vocabulary. The specificity of a deficit was assessed by comparing memory for verbal and visuo-spatial information. The effect of auditory problems on performance was examined by contrasting memory for auditorily presented material with that for material presented both auditorily and visually. The influence of speech-motor difficulties was investigated by employing both a traditional recall procedure and a serial recognition procedure that reduced spoken response demands. Results confirmed that individuals with Down syndrome do show impaired verbal short-term memory performance for their level of receptive vocabulary. The findings also indicated that this deficit is specific to memory for verbal information and is not primarily caused by auditory or speech-production difficulties.

  13. Modularity of action programs in normal and Down syndrome individual / Modularidade de programas de ação em indivíduos normais e portadores da síndrome de Down

    Directory of Open Access Journals (Sweden)

    Roberto Gimenez

    2006-01-01

    Full Text Available Motor skills are represented as abstract form by action programs that once formed constitutes modules that ease the demand of motor control in complex tasks. The present study investigated whether modules are formed in the acquisition of motor skills in normal individuals and individuals with Down syndrome. Twelve individuals took part in the study, they were assigned equally to three groups: children, adults and adults with Down syndrome. They practiced the manual reproduction of a graphic pattern composed by five linear strokes that was added to another graphic pattern after 100 trials. Down syndrome individuals had difficult to form modules and their performance was similar to that of the children. The lack of modularity in the behavior of Down syndrome individuals may explain the difficulty they face many times while performing motor skills.

  14. Assessment of objectively measured physical activity levels in individuals with intellectual disabilities with and without Down's syndrome.

    Directory of Open Access Journals (Sweden)

    Alexander C Phillips

    Full Text Available To investigate, using accelerometers, the levels of physical activity being undertaken by individuals with intellectual disabilities with and without Down's syndrome.One hundred and fifty two individuals with intellectual disabilities aged 12-70 years from East and South-East England. Physical activity levels in counts per minute (counts/min, steps per day (steps/day, and minutes of sedentary, light, moderate, vigorous, and moderate to vigorous physical activity (MVPA measured with a uni-axial accelerometer (Actigraph GT1M for seven days.No individuals with intellectual disabilities met current physical activity recommendations. Males were more active than females. There was a trend for physical activity to decline and sedentary behaviour to increase with age, and for those with more severe levels of intellectual disability to be more sedentary and less physically active, however any relationship was not significant when adjusted for confounding variables. Participants with Down's syndrome engaged in significantly less physical activity than those with intellectual disabilities without Down's syndrome and levels of activity declined significantly with age.Individuals with intellectual disabilities, especially those with Down's syndrome may be at risk of developing diseases associated with physical inactivity. There is a need for well-designed, accessible, preventive health promotion strategies and interventions designed to raise the levels of physical activity for individuals with intellectual disabilities. We propose that there are physiological reasons why individuals with Down's syndrome have particularly low levels of physical activity that also decline markedly with age.

  15. Verbal Short-Term Memory Performance in Pupils with Down Syndrome

    Science.gov (United States)

    Abdelhameed, Hala; Porter, Jill

    2010-01-01

    Research has shown that verbal short-term memory span is shorter in individuals with Down syndrome than in typically developing individuals of equivalent mental age, but little attention has been given to variations within or across groups. Differences in the environment and in particular educational experiences may play a part in the relative…

  16. A study of new potential risk factors for Down syndrome in Upper Egypt

    African Journals Online (AJOL)

    The well-established risk factor, advanced maternal age, was not found in many of the Down syndrome cases in Egypt, while other possible risk factors have not been well studied yet. In view of this, we have conducted the present study to clarify that issue and throw some lights on other potential risk factors in Down ...

  17. An economic evaluation of first-trimester genetic sonography for prenatal detection of Down syndrome.

    Science.gov (United States)

    Vintzileos, A M; Ananth, C V; Fisher, A J; Smulian, J C; Day-Salvatore, D; Beazoglou, T

    1998-04-01

    To determine 1) the diagnostic accuracy requirements of first-trimester genetic sonography from the cost-benefit point of view and 2) the economic impact of first-trimester genetic sonography for the United States on the basis of the accuracy of previously published studies. A cost-benefit equation was developed on the basis of the hypothesis that the cost of chorionic villus sampling (CVS) in pregnant women with advanced maternal age (at least 35 years old) should be at least equal to the cost of genetic sonography with CVS used only for those with abnormal ultrasound results. The components of the equation included the diagnostic accuracy of genetic ultrasound (sensitivity and specificity for detecting Down syndrome), the costs of the CVS package and genetic ultrasound, and the lifetime cost of Down syndrome cases. First-trimester genetic sonography was found to be beneficial if the overall sensitivity for detecting Down syndrome was greater than 70%, and even then, the cost-benefit ratio depended on the corresponding false-positive rate. The required minimum ultrasound sensitivity varied according to the maternal age-specific prevalence of Down syndrome and ranged between 40% (for women 35 years old) to 96% (for women 44 years old). Of eight published cohorts using nuchal translucency thickness for genetic sonography, five had accuracies of genetic ultrasound compatible with net benefits. The benefits of first-trimester genetic sonography depend on its diagnostic accuracy. First-trimester genetic sonography has the potential for annual savings of 22 million dollars in the United States.

  18. Self-reported stress among adolescent siblings of individuals with autism spectrum disorder and Down syndrome.

    Science.gov (United States)

    Shivers, Carolyn M; McGregor, Casey; Hough, Ashlea

    2017-11-01

    Despite the prevalence of studies showing increased stress among mothers of individuals with autism spectrum disorders, few studies have examined general stress among typically developing siblings. This study used an online survey to compare the levels of self-reported stress between adolescent siblings of individuals with autism spectrum disorder and Down syndrome. Sibling of individuals with autism reported significantly more overall stress than did siblings of individuals with Down syndrome, as well as more stress specifically attributed to the brother/sister with autism. The two groups did not differ on perceived social support from family and friends. In linear regression models, the disability group (autism vs Down syndrome) was significantly related to sibling stress above and beyond target child behavior problems, perceived social support, and demographic factors. These results help shed light on the daily experiences of adolescent siblings of individuals with autism and call for more research into potential interventions to address increased stress levels.

  19. Dementia of Alzheimer-type in adult patients with Down's syndrome. Its frequency, neuroradiological findings, and biochemical study of risk factors

    International Nuclear Information System (INIS)

    Sekijima, Yoshiki

    1997-01-01

    We examined the frequency, neuroradiological features, and risk factors of Alzheimer-type dementia (DAT) in 123 Japanese adult patients with Down's syndrome. Among these patients 16 were diagnosed as having DAT. The prevalence of DAT was 0% in the 18- to 39-year-old group, 16% in those aged 40 to 49 years old, and 38% in those over 50 years old. On CT examination, the earliest finding of DAT was atrophy of the temporal lobe. Patients at an advanced stage revealed extensive atrophy of the cerebral hemispheres, frequently associated with calcification of the basal ganglia. 123 I-IMP-SPECT studies showed abnormally decreased isotope uptake in the posterior parietal regions in Down's syndrome patients with DAT, and a similar finding was also seen in Down's syndrome patients who showed severe mental retardation. The frequency of the apolipoprotein E (ApoE) E4 in Down's syndrome patients with DAT was 18.8%, which was higher than that of non-demented Down's syndrome patients (4.5%) and Japanese non-demented controls (6.7%). In particular, the frequency of the ApoE E4 in patients who developed DAT before 50 years of age was significantly high (28.6%). It is very likely that the ApoE E4 is a risk factor for DAT even in Down's syndrome patients with a genetic predisposition to Alzheimer's disease. (author)

  20. Obstructive sleep apnea in Down syndrome: Benefits of surgery and noninvasive respiratory support.

    Science.gov (United States)

    Dudoignon, Benjamin; Amaddeo, Alessandro; Frapin, Annick; Thierry, Briac; de Sanctis, Livio; Arroyo, Jorge Olmo; Khirani, Sonia; Fauroux, Brigitte

    2017-08-01

    Children with Down syndrome are at increased risk of obstructive sleep apnea (OSA). The aim of the study was to describe the management of OSA in a large cohort of children with Down syndrome. A retrospective analysis of sleep studies and consequent management was performed for all consecutive Down syndrome patients evaluated between September 2013 and April 2016. The data of 57 patients were analyzed: 51/53 had an interpretable overnight polygraphy and 4 the recording of nocturnal gas exchange. Mean age at baseline sleep study was 6.2 ± 5.9 years. Eighteen patients (32%) had prior upper airway surgery. Mean apnea-hypopnea index (AHI) was 14 ± 16 events/hr with 41 of the 51 (80%) patients having OSA with an AHI >1 event/hr and 20 patients (39%) having an AHI ≥10 events/hr. Consequently, eight patients (14%) had upper airway surgery. OSA improved in all patients except two who needed noninvasive respiratory support. Nineteen (33%) patients required noninvasive respiratory support. Mean age at noninvasive respiratory support initiation was 7 ± 7 years. On 11 patients with objective adherence data available, mean compliance at 2 ± 1 years of treatment was excellent with an average use per night of 8 hr46 ± 3 hr59 and 9 patients using the noninvasive respiratory support >4 hr/night. Noninvasive respiratory support was associated with an improvement of nocturnal gas exchange. The prevalence of OSA is high in Down syndrome. Upper airway surgery is not always able to correct OSA. Noninvasive respiratory support represents then an effective treatment for OSA and good compliance may be achieved in a majority of patients. © 2017 Wiley Periodicals, Inc.

  1. A 21-Week Bone Deposition Promoting Exercise Programme Increases Bone Mass in Young People with Down Syndrome

    Science.gov (United States)

    Gonzalez-Aguero, Alejandro; Vicente-Rodriguez, German; Gomez-Cabello, Alba; Ara, Ignacio; Moreno, Luis A.; Casajus, Jose A.

    2012-01-01

    Aim: To determine whether the bone mass of young people with Down syndrome may increase, following a 21-week conditioning training programme including plyometric jumps. Method: Twenty-eight participants with Down syndrome (13 females, 15 males) aged 10 to 19 years were divided into exercise (DS-E; n = 14; eight females, six males mean age 13y 8mo,…

  2. Postural Control in Children, Teenagers and Adults with Down Syndrome

    Science.gov (United States)

    Rigoldi, Chiara; Galli, Manuela; Mainardi, Luca; Crivellini, Marcello; Albertini, Giorgio

    2011-01-01

    The goal of this work was to analyze postural control in Down syndrome (DS) participants considering three different groups composed by children, teenagers and adults with DS. An analysis of the centre of pressure (COP) displacement during standing position was therefore performed for the three groups of subjects. The obtained signal of COP was…

  3. Potencial evocado auditivo tardio relacionado a eventos (P300 na síndrome de Down Late auditory event-related evoked potential (P300 in Down's syndrome patients

    Directory of Open Access Journals (Sweden)

    Carla Patrícia Hernandez Alves Ribeiro César

    2010-04-01

    Full Text Available A síndrome de Down é causada pela trissomia do cromossomo 21 e está associada com alteração do processamento auditivo, distúrbio de aprendizagem e, provavelmente, início precoce de Doença de Alzheimer. OBJETIVO: Avaliar as latências e amplitudes do potencial evocado auditivo tardio relacionado a eventos (P300 e suas alterações em indivíduos jovens adultos com síndrome de Down. MATERIAL E MÉTODO: Estudo de caso prospectivo. Latências e amplitudes do P300 foram avaliadas em 17 indivíduos com síndrome de Down e 34 indivíduos sadios. RESULTADOS: Foram identificadas latências do P300 (N1, P2, N2 e P3 prolongadas e amplitude N2 - P3 diminuída nos indivíduos com síndrome de Down quando comparados ao grupo controle. CONCLUSÃO: Em indivíduos jovens adultos com síndrome de Down ocorre aumento das latências N1, P2, N2 e P3, e diminuição significativa da amplitude N2-P3 do potencial evocado auditivo tardio relacionado a eventos (P300, sugerindo prejuízo da integração da área de associação auditiva com as áreas corticais e subcorticais do sistema nervoso central.Down syndrome is caused by a trisomy of chromosome 21 and is associated with central auditory processing deficit, learning disability and, probably, early-onset Alzheimer's disease. AIM: to evaluate the latencies and amplitudes of evoked late auditory potential related to P300 events and their changes in young adults with Down's syndrome. MATERIALS AND METHODS: Prospective case study. P300 test latency and amplitudes were evaluated in 17 individuals with Down's syndrome and 34 healthy individuals. RESULTS The P300 latency (N1, P2, N2 and P3 was longer and the N2-P3 amplitude was lower in individuals with Down syndrome when compared to those in the control group. CONCLUSION: In young adults with Down syndrome, N1, P2, N2 and P3 latencies of late auditory evoked potential related to P300 events were prolonged, and N2 - P3 amplitudes were significantly reduced

  4. The Advantage of Reading over Listening Text Comprehension in Down Syndrome: What Is the Role of Verbal Memory?

    Science.gov (United States)

    Roch, Maja; Florit, Elena; Levorato, M. Chiara

    2012-01-01

    The current study was designed to investigate the role played by verbal memory in the advantage shown by individuals with Down syndrome in reading over listening text comprehension (Roch & Levorato, 2009). Two different aspects of verbal memory were analyzed: processing load and coding modality. Participants were 20 individuals with Down syndrome,…

  5. Pharmacodynamics and Pharmacokinetics of Morphine After Cardiac Surgery in Children With and Without Down Syndrome

    NARCIS (Netherlands)

    Valkenburg, Abraham J.; Calvier, Elisa A. M.; van Dijk, Monique; Krekels, Elke H. J.; O'Hare, Brendan P.; Casey, William F.; Mathôt, Ron A. A.; Knibbe, Catherijne A. J.; Tibboel, Dick; Breatnach, Cormac V.

    2016-01-01

    To compare the pharmacodynamics and pharmacokinetics of IV morphine after cardiac surgery in two groups of children-those with and without Down syndrome. Prospective, single-center observational trial. PICU in a university-affiliated pediatric teaching hospital. Twenty-one children with Down

  6. Craniofacial features as assessed by lateral cephalometric measurements in children with Down syndrome

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    Veerasathpurush Allareddy

    2016-11-01

    Full Text Available Abstract Objective The objective of the present study is to examine the craniofacial development of patients with Down syndrome (DS and compare them with a neurotypical population. Methods This study is a cross-sectional analysis of lateral cephalometric radiographs of participants with DS. The study population consisted of children and young adults with DS aged 3–25 years. Cephalometric data were summarized by age and sex. Raw and normalized z-scores were computed. One-sample t tests were used to test whether mean z-scores differed from zero. The demographic characteristics between those with or without lateral cephalograms among all study participants were compared by Fisher’s exact tests. Results The study sample comprised of 27 participants with DS. Study subjects demonstrated a class III skeletal pattern. This was more pronounced in the older age groups as compared to younger age groups. Subjects also had an increased proportionate lower anterior face height to total facial height compared to normative standards. Gonial angles, mandibular plane angles, and airway measurements increased with age. Conclusions Patients with Down syndrome present typically with class III skeletal pattern and long lower anterior facial heights. In patients with Down syndrome, comprehensive phase of orthodontic treatment may be best initiated following cessation of growth.

  7. Epífora congênita nos pacientes com síndrome de Down Congenital epiphora in patients with Down syndrome

    Directory of Open Access Journals (Sweden)

    Christiane Carvalho Salvio

    2007-06-01

    Full Text Available OBJETIVO: Identificar as causas de epífora congênita em pacientes com síndrome de Down. MÉTODOS: Foram analisados os prontuários de 695 pacientes com epífora congênita, atendidos no Ambulatório de Vias Lacrimais da Clínica Oftalmológica da Santa Casa de Misericórdia de São Paulo, de outubro de 1989 a julho de 2005. Todos foram previamente submetidos a exame oftalmológico completo e apresentavam como queixa principal epífora e/ou secreção ocular constante, uni ou bilateral, desde o nascimento. Os pacientes foram divididos em: grupo A, 30 pacientes com síndrome de Down, e grupo B, 665 pacientes controle. A avaliação das vias lacrimais foi realizada com a prova de irrigação sob anestesia geral. RESULTADOS: Os grupos A e B são semelhantes estatisticamente quanto à idade (p=0,07, sexo (p=0,63 e raça (p=0,68. As queixas bilaterais foram mais freqüentes no grupo A (p=0,0008. A obstrução anatômica das vias lacrimais foi encontrada em 32,73% do grupo A e em 85,51% do grupo B (pPURPOSE: To describe the causes of congenital epiphora in patients with Down syndrome. METHODS: Retrospective study of 695 patients with congenital epiphora, of the Lacrimal Sector of the Department of Ophthalmology, São Paulo "Santa Casa", Brazil, between October 1998 and July 2005. This study analyzed: the main symptom of continuous epiphora or mucous discharge, which affected one or both eyes, since birth. Subjects were separated in to two groups: group A, with 30 patients with Down syndrome and group B, with 665 control patients. The lacrimal evaluation was performed by the throw irrigation test after general anesthesia. RESULTS: Both groups were statistically similar regarding age (p=0.07, sex (p=0.63 and race (p=0.68. Bilateral symptoms were more frequent in group A (p=0.0008. Anatomic obstruction of the lacrimal canal was present in 32.73% of group A and in 85.51% of group B (p<0.0001. CONCLUSIONS: The most frequent cause of congenital epiphora

  8. Dance Therapy with Physical Therapy for Children with Down Syndrome.

    Science.gov (United States)

    Dupont, Blanche Burt; Schulmann, Diana

    This study sought to investigate effects of a dance program on bilateral toe-standing balance and single-point static balance skills of a group of children with Down Syndrome. Thirteen experimental and 10 control group students between the ages of 3 and 13 years were assessed on toe-standing balance and single-point standing balance on the right…

  9. [Characteristics in treatment of the hip in patients with Down syndrome].

    Science.gov (United States)

    Peterlein, C-D; Schiel, M; Timmesfeld, N; Schofer, M D; Eberhardt, O; Wirth, T; Fernandez, F F

    2013-12-01

    The treatment of hip instability in patients with Down syndrome is challenging. We have performed different pelvic osteotomies and corrections at the proximal femur for this indication. This retrospective study was conducted to evaluate the clinical and radiological outcome of each intervention. All in all, 166 patients with Down syndrome were treated at our orthopaedic department in the observation period. Problems related to the hip joint were diagnosed in 63 of those patients. Only patients who underwent surgery were included in this study. The charts and X-rays of these 31 patients were evaluated with respect to the following parameters: incidence of the hip problem, concomitant diseases, temporal progress, kind of operation method and date, duration of stay in the hospital, after-care, follow-on surgery related to complications, AC angle, CE angle, ACM angle, CCD angle, index of migration according to Reimers, classification of Bauer and Kerschbauer and general morphology of the femoral head. The group was compared with an age-matched group of 21 patients with hip dysplasia. Those patients underwent the same sort of operation in the same year. In the Morbus Down group, we performed surgery for preservation of the hip in 49 cases. This included 13 osteotomies according to Chiari, 11 triple osteotomies according to Tönnis, 10 corrections by femoral varus derotation osteotomy, 8 pelvic osteotomies according to Pemberton, 5 pelvic osteotomies according to Salter and 2 open reductions of the hip. With respect to the moment of surgery, we detected three peaks of age. There was no difference in course of disease and quantity of complications between the groups. Satisfactory results concerning clinical and radiological outcome were achieved predominantly by complete redirectional acetabular osteotomies. Half of the patients who were solely treated by femoral varus derotation osteotomy needed follow-on surgery in the form of pelvic osteotomy. Comparison of

  10. Communication Skills of a Child with Down Syndrome at the End of the First Grade of Elementary School

    Science.gov (United States)

    Ivic, Sonja

    2016-01-01

    Each case of a child with Down syndrome is specific because it is directly related to the environment the child grows up in, develops, lives and learns. Although many conditions about Down syndrome tend to generalize the condition, particular characteristics are specific and depend on environment. In this respect, such issues must be approached as…

  11. Informed Choice for Participation in Down Syndrome Screening

    DEFF Research Database (Denmark)

    Skjøth, Mette Maria; Hansen, Helle Ploug; Draborg, Eva

    2015-01-01

    Decision Aid Standards (IPDAS) Collaboration guide to develop a patient decision aid, and the roadmap for developing eHealth technologies from the Center for eHealth Research and Disease Management (CeHRes). The methods employed were a systematic literature search, focus group interviews with 3 care...... providers, and technology experts as stakeholders. To our knowledge, there has been no research on the combination of IPDAS standards and the CeHRes roadmap to develop an eHealth tool to target information about screening for Down syndrome....

  12. Poor Phonemic Discrimination Does Not Underlie Poor Verbal Short-Term Memory in Down Syndrome

    Science.gov (United States)

    Purser, Harry R. M.; Jarrold, Christopher

    2013-01-01

    Individuals with Down syndrome tend to have a marked impairment of verbal short-term memory. The chief aim of this study was to investigate whether phonemic discrimination contributes to this deficit. The secondary aim was to investigate whether phonological representations are degraded in verbal short-term memory in people with Down syndrome…

  13. The teaching-learning process of plastic expression in students with Down syndrome

    Directory of Open Access Journals (Sweden)

    Julio Antonio Conill Armenteros

    2018-03-01

    Full Text Available The drawing constitutes a means through which the child expresses the level of physical, mental, emotional and creative development achieved and plays an important role in the plastic expression. The study took into account the identification of needs in the teaching - learning process of plastic expression in students with Down syndrome, for which a didactic strategy was designed that contains actions of a teaching nature and establishes interdisciplinary links between the different subjects of the curriculum. The investigative process was conducted on a dialectical-materialist basis and methods were used at the theoretical, empirical and statistical-mathematical levels, such as: documentary analysis, interview, drawing technique, among others. Five students with Down syndrome participated in the study of the special school "28 de Enero" of Pinar del Río and the instructor who directs the workshops of creation of Plastic Arts. The investigations allowed to determine the regularities that distinguish the process of teaching - learning of the plastic expression in these students, as well as the needs of the Plastic Arts instructor for the conduction of said process. The didactic strategy allowed the process of teaching - learning of the plastic expression to encourage creativity and the development of motor skills, from the projection of actions that contribute to the diagnosis and treatment of this process in order to achieve the maximum integral development possible and the preparation for the independent adult life of the school student with Down syndrome.

  14. A Comparison of the Behavioural and Emotional Characteristics of Alzheimer's Dementia in Individuals with and without Down Syndrome

    Science.gov (United States)

    Temple, Valerie; Konstantareas, M. Mary

    2005-01-01

    The behavioural and emotional changes associated with Alzheimer's disease (AD) are compared for individuals with Down syndrome and AD and individuals with AD from the general population (AD-only). The primary caregivers of 30 people with Down syndrome and AD and 30 people with AD-only completed the BEHAVE-AD and the Apathy subscale of the CERAD.…

  15. Quality of Inclusion and Related Predictors: Teachers' Reports of Educational Provisions Offered to Students with Down Syndrome

    Science.gov (United States)

    Engevik, L. I.; Naess, K. -A. B.; Berntsen, L.

    2018-01-01

    The aims of this study were to gain insight into the quality of inclusion in mainstream classrooms involving students with Down syndrome and to reveal underlying predictors. A total of 39 8-year-olds with Down syndrome and their teachers participated. Via a survey, the teachers were asked to rate key indicators of inclusion. Their average rating…

  16. National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973–2016 in Denmark

    DEFF Research Database (Denmark)

    Lou, Stina; Petersen, Olav B.; Jørgensen, Finn Stener

    2018-01-01

    INTRODUCTION: Denmark was the first country in the world to implement a national, free-for-all offer of prenatal screening for Down syndrome to all pregnant women. It has a high uptake (> 90%) compared to other countries. Thus, Denmark offers an interesting case for investigating the consequences...... of implementing a comprehensive, national prenatal screening guideline. The aim of this study was to describe the historical developments in invasive procedures, pre-/postnatal diagnoses of Down syndrome and Down syndrome live births in the period 1973-2016 in Denmark MATERIAL AND METHODS: Data on invasive...... procedures, pre- and postnatal Down syndrome diagnoses were retrieved from the Danish Cytogenetic Central Registry RESULTS: From 1973-1993 screening based on maternal age and high-risk indications resulted in a constant increase in invasive procedures. After the introduction of the triple test in 1994...

  17. The Efficacy of Rehearsal Strategy on Auditory Short-Term Memory of Educable 5 to 8 Years Old Children with Down Syndrome

    OpenAIRE

    Esmaeil Esmaieli; Ma'soumeh Pourmohammadreza-Tajrishi; Sahel Hemmati; Akbar Biglarian

    2014-01-01

    Objective: One of the problems of children with Down syndrome is their low performance on retention of information and its recall in the memory. The present study aimed to determine the efficacy of rehearsal strategy on auditory short-term memory of educable 5 to 8 years old children with Down syndrome. Materials & Methods: In this quasi-experimental study, 24 children (14 boys and 10 girls) were selected in convenience from Iranian Down Syndrome Charity Association and evaluated by Raven...

  18. A Qualitative Analysis of Imitation Performances of Preschoolers with Down Syndrome

    Science.gov (United States)

    Vanvuchelen, Marleen

    2016-01-01

    A number of studies suggest that imitation is a characteristic strength in children with Down Syndrome (DS). The present study aims to discover whether imitation performances are qualitatively phenotypical in DS. Eight preschoolers with DS were matched on chronological, mental, language and imitation age with 8 preschoolers with intellectual…

  19. Early Hearing Loss and Language Abilities in Children with Down Syndrome

    Science.gov (United States)

    Laws, Glynis; Hall, Amanda

    2014-01-01

    Background: Although many children with Down syndrome experience hearing loss, there has been little research to investigate its impact on speech and language development. Studies that have investigated the association give inconsistent results. These have often been based on samples where children with the most severe hearing impairments have…

  20. Development of Reaching and Grasping skills in infants with Down syndrome

    NARCIS (Netherlands)

    de Campos, A.C.; Rocha, N.A.C.F.; Savelsbergh, G.J.P.

    2010-01-01

    Reaching and grasping skills have been described to emerge from a dynamic interaction between intrinsic and extrinsic factors. The aims of the study were to investigate the effect of such intrinsic factors as age and Down syndrome on the development of reaching and grasping skills and on overall

  1. School inclusion: the perspective of mothers of students with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Luciane Najar Smeha

    2014-06-01

    Full Text Available The research aimed to know the perception of the parents on the pertaining to school life of their child with Down syndrome. Its objective was to identify feelings, to know experiences and factors that contribute or make the process difficult, bringing in the problematic of inclusion in regular public system of Santa Maria, Rio Grande do Sul. A qualitative research, with five mothers, was carried through. The data collected in semistructuralized interview had been analyzed based on Bardin (2002. Three final categories had emerged: the search for the inclusion of the child with Down syndrome; the fragility of the inclusion in the regular education net; the contributions and difficulties of the inclusion process in regular schools. Results point that the disparities between what it is ranked as ideal and what it carries through in the practical way is seen by mothers as an inefficient and harmful process to the mental health of children. Disturbing experiences are provoked by the lack of observation of what can be found in the inclusive rank of laws and rules, making the mothers feel hurt, sadness, and frustration. The inclusion law shows that there’s an obligation in accepting all the children without distinction, however, it does not show the ways to make it possible, or how to include each context, taking into account its especificities, what makes each experience singular. A single solution is difficult to point out, since the school was constituted, and still remains, as an exculpatory institution. However, the task to include the child with Down syndrome passes for the commitment to discover and organize actions to solve, in an adequate way, the people’s expectations.

  2. Down's syndrome clusters in Germany in close temporal relationship to the Chernobyl accident

    International Nuclear Information System (INIS)

    Grosche, B.; Schoetzau, A.; Burkart, W.

    1997-01-01

    In two independent studies using different approaches and covering West Berlin and Bavaria, respectively, highly significant temporal clusters of Down's syndrome were found. Both sharp increases occurred in areas receiving relatively low Chernobyl fallout and concomitant radiation exposures. Only for the Berlin cluster was fallout present at the time of the affected meioses, whereas the Nuremberg cluster preceded the radioactive contamination for one month. Hypotheses on possible causal relationships are compared. Radiation from the Chernobyl accident is an unlikely factor, also, because the associated cumulative dose was so low in comparison with natural background. Given the lack of understanding of what causes Down's syndrome, other than factors associated with increased maternal age, additional research into environmental and infectious risk factors is warranted. (author)

  3. Phenotypic aspects of oral strains of Candida albicans in children with down's syndrome

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    E. L. Ribeiro

    Full Text Available The aim of this article is to characterize the biological aspects of oral strains of C. albicans in children with Down's syndrome. These yeasts were analyzed as to their macromorphological and enzymatic aspects and were tested as to their in vitro susceptibility to antifungal drugs using broth microdilution to determine the minimum inhibitory concentration (MIC. The morphotyping revealed that all oral C. albicans isolates from children with Down's syndrome promoted the formation of fringes regardless of size, while the control group presented smaller fringes. All oral C. albicans strains produced proteinase, but those with phospholipolytic activity showed greater enzyme capacity in the test group. In vitro susceptibility showed that all oral C. albicans isolates were sensitive to the drugs used.

  4. Cognitive stimulation of pupils with Down syndrome: A study of inferential talk during book-sharing.

    Science.gov (United States)

    Engevik, Liv Inger; Næss, Kari-Anne B; Hagtvet, Bente E

    2016-08-01

    In the education of pupils with Down syndrome, "simplifying" literal talk and concrete stimulation have typically played a dominant role. This explorative study investigated the extent to which teachers stimulated abstract cognitive functions via inferential talk during book-sharing and how pupils with Down syndrome responded. Dyadic interactions (N=7) were videotaped, transcribed and coded to identify levels of abstraction in teacher utterances and to evaluate the adequacy of pupil responses. One-third of the teachers' utterances contained high levels of abstraction and promoted inferential talk. Six of the seven children predominantly responded in ways which revealed inferential thinking. Dialog excerpts highlighted individual, contextual and interactional factors contributing to variations in the findings. Contrary to previous claims, the children with Down syndrome in the current sample appear able to draw inferences beyond the "here-and-now" with teacher support. This finding highlights the educational relevance and importance of higher-order cognitive stimulation of pupils with intellectual disabilities, to foster independent metacognitive skills. Copyright © 2016 Elsevier Ltd. All rights reserved.

  5. Student Teachers' Evaluations of Slides of Children with Down Syndrome: Impact of Facial Plastic Surgery, Labelling and Factual Knowledge.

    Science.gov (United States)

    Elkabetz, R.; And Others

    1990-01-01

    This study examined the impact of facial plastic surgery, labeling (mentally retarded, normal, Down's syndrome), and level of knowledge of Down's syndrome on 127 student teachers' evaluations of slides of persons with such characteristics. Although there was no overall significant main effect for the pre-post operation condition, there was a…

  6. Growing up with Down syndrome : The developing child and its parents

    NARCIS (Netherlands)

    Marchal, J.P.

    2017-01-01

    This thesis consists of two parts. The first part describes the results of a follow-up study concerning early life thyroid hormone treatment in children with Down syndrome. The purpose of this treatment during the first two years of life was to stimulate development and growth. Beside the results of

  7. Joint Attention Behaviours and Vocabulary Development in Children with Down Syndrome

    Science.gov (United States)

    Zampini, L.; Salvi, A.; D'Odorico, L.

    2015-01-01

    Background: Because of their difficulties in language development, various studies have focussed on the precursors of linguistic skills in children with Down syndrome. However, data on the predictive role of joint attention on language development in this population are inconsistent. The present study aimed to analyse attention behaviours in a…

  8. A stereological study of the mediodorsal thalamic nucleus in Down syndrome

    DEFF Research Database (Denmark)

    Karlsen, A S; Korbo, S; Uylings, H B M

    2014-01-01

    The total number of neurons and glial cells in the mediodorsal thalamic (MDT) nucleus of four aged females with Down syndrome (DS; mean age 69years) was estimated and compared to six age- and sex-matched controls. The MDT nucleus was delineated on coronal sections, and cell numbers (large and small...

  9. Median nerve conduction velocity and central conduction time measured with somatosensory evoked potentials in thyroxine-treated infants with Down syndrome

    NARCIS (Netherlands)

    van Trotsenburg, A. S. Paul; Smit, Bert J.; Koelman, Johannes H. T. M.; Dekker-van der Sloot, Marijke; Ridder, Jeannette C. D.; Tijssen, Jan G. P.; de Vijlder, Jan J. M.; Vulsma, Thomas

    2006-01-01

    OBJECTIVE: The aim of this study was to determine whether thyroxine treatment would improve nerve conduction in infants with Down syndrome. METHODS: A single-center, nationwide, randomized, double-blind, clinical trial was performed. Neonates with Down syndrome were assigned randomly to thyroxine (N

  10. Normal formation and repair of γ-radiation-induced single and double strand DNA breaks in Down syndrome fibroblasts

    International Nuclear Information System (INIS)

    Steiner, M.E.; Woods, W.G.

    1982-01-01

    Fibroblasts from patients with Down syndrome (Trisomy 21) were examined for repair capability of γ-radiation-induced single strand and double strand DNA breaks. Formation and repair of DNA breaks were determined by DNA alkaline and non-denaturing elution techniques. Down syndrome fibroblasts were found to repair single strand and double strand breaks as well as fibroblasts from normal controls. (orig.)

  11. Investigation of Auditory Brain Stem Responses (ABRs In Children with Down Syndrome

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    Mohsen Monadi

    2013-04-01

    Full Text Available Objective: The aim of this study was comparing ABR in normal and down children. Materials & Methods: This study was performed between 1388 to 1391 at Akhavan rehabilitation center of University of Social Welfare and Rehabilitation Sciences Tehran and Babol Amir Kola hospital. Forty five 3-6 year-old boy with Down’s syndrome and forty five normal children were selected from available population. After case history, otoscopy and basic hearing tests, ABR test was performed. In ABR absolute latencies, interpeak latencies and amplitude ratio of V/I were analyzed. For analyzing data, parametric independent t test was selected. Results: Latencies and inter-peak latencies of I-III, I-V (P-value<0.001, III-V (P-value=0.01 and V/I amplitude ratio (P-value<0.001 were shorter than normal. Children with Down syndrome had significantly higher threshold than normal children (P-value<0.001. Conclusion: Peripheral auditory system development is delayed and brainstem function in children with Down’s syndrome is abnormal. Early diagnosis of hearing impairments and intervention in these children is very important because it affects communication skills.

  12. The Importance of Down Syndrome Phenocopies in the Newborns in Tertiary Obstetric Hospital

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    Elizabeta Zisovska

    2013-12-01

    Full Text Available Background: A phenotype is the composite of the observable characteristics, and in some cases it is not representative for identification of recognized genetic structure. Aim: The aims of the study were to present the incidence and clinical features of dismorphia in newborn children, and to investigate the prevalence of phenocopies among them. Material and Methods: Newborns born at the University Clinic for Gynecology & Obstetrics, having at least 3 minor anomalies (mm specific for Down syndrome were investigated. Patients’ histories, observation, cytogenetic analysis of peripheral blood samples were analysed. Results: Among 17835 liveborns during 5 years’ period, 128 were detected having at least 3 mm, calculated incidence of dysmorphia 0.83% (1:139. Cytogenetic analysis was not performed in 3.1% (4/128 due to immediate death or transfers elsewhere, 30.5% (39/128 were confirmed Down syndrome. Cytogenetic analysis showed trisomy 21 in 97.4%; Robertsonian translocation had one newborn (2.6%; normal cytogenetic structure had 66.4% (85/128 of the newborns. Conclusons: Other studies didn’t highlight the proportion of phenocopies of Down syndrome in unselected population of newborns, mainly investigating sick children, disabled, or older-aged. As more the critical role of phenocopy emerges, the more the initial difficulty in detecting gene-gene interactions is amplified. Neglecting the possible presence of phenocopies in complex traits, heavily affects the analysis of their genetic data.

  13. Methotrexate-induced side effects are not due to differences in pharmacokinetics in children with Down syndrome and acute lymphoblastic leukemia

    NARCIS (Netherlands)

    Buitenkamp, Trudy D.; Mathôt, Ron A. A.; de Haas, Valerie; Pieters, Rob; Zwaan, C. Michel

    2010-01-01

    Children with Down syndrome have an increased risk of developing acute lymphoblastic leukemia and a poor tolerance of methotrexate. This latter problem is assumed to be caused by a higher cellular sensitivity of tissues in children with Down syndrome. However, whether differences in pharmacokinetics

  14. Ethnic differences in informed decision-making about prenatal screening for Down's syndrome

    NARCIS (Netherlands)

    Fransen, Mirjam P.; Essink-Bot, Marie-Louise; Vogel, Ineke; Mackenbach, Johan P.; Steegers, Eric A. P.; Wildschut, Hajo I. J.

    2010-01-01

    BACKGROUND: The aim of this study was to assess ethnic variations in informed decision-making about prenatal screening for Down's syndrome and to examine the contribution of background and decision-making variables. METHODS: Pregnant women of Dutch, Turkish and Surinamese origin were recruited

  15. Day occupation is associated with psychopathology for adolescents and young adults with Down syndrome.

    Science.gov (United States)

    Foley, Kitty-Rose; Jacoby, Peter; Einfeld, Stewart; Girdler, Sonya; Bourke, Jenny; Riches, Vivienne; Leonard, Helen

    2014-10-03

    Young adults with Down syndrome experience increased rates of emotional and behavioural problems compared with the general population. Most adolescents with Down syndrome living in Western Australia participate in sheltered employment as their main day occupation. Relationship between day occupation and changes in behaviour has not been examined. Therefore, the aim of this research was to explore any relationship between post school day occupations and changes in the young person's behaviour. The Down syndrome Needs Opinion Wishes database was used for case ascertainment of young adults aged 15 to 32 years with Down syndrome. Families of 118 young people in this population-based database completed questionnaires in 2004, 2009 and 2011. The questionnaires addressed both young person characteristics such as age, gender, presence of impairments, behaviour, functioning in activities of daily living, and family characteristics such as income and family functioning. Post-school day occupations in which the young people were participating included open and sheltered employment, training and day recreation programs. Change in behaviour of young adults who remained in the same post-school day occupation from 2009 to 2011 (n = 103) were examined in a linear regression model adjusting for confounding variables including age, gender, prior functioning and behaviour in 2004 and family income. In comparison to those young adults attending open employment from 2009 to 2011, those attending day recreation programs were reported to experience worsening in behaviour both in the unadjusted (effect size -0.14, 95% CI -0.24, -0.05) and adjusted models (effect size -0.15, 95% CI -0.29, -0.01). We found that the behaviour of those participating in open employment improved compared to those attending other day occupations. Further examination of the direction of this association is required.

  16. Activities for Babies and Toddlers with Down Syndrome: A Physiotherapy Approach.

    Science.gov (United States)

    Kelso, Rose-Anne; Price, Sue

    Children with Down Syndrome have the potential for the development of a large range and variety of postures, balance reactions, movements, and skills. Sometimes this potential remains relatively untapped resulting in unusual, inefficient, or even detrimental patterns of movement. By handling and playing with the child, he or she becomes more aware…

  17. Working Memory in Down Syndrome: Is There a Dual Task Deficit?

    Science.gov (United States)

    Lanfranchi, S.; Baddeley, A.; Gathercole, S.; Vianello, R.

    2012-01-01

    Background: Recent studies have shown that individuals with Down syndrome (DS) are poorer than controls in performing verbal and visuospatial dual tasks. The present study aims at better investigating the dual task deficit in working memory in individuals with DS. Method: Forty-five individuals with DS and 45 typically developing children matched…

  18. Recognition of Facial Expressions of Emotion in Adults with Down Syndrome

    Science.gov (United States)

    Virji-Babul, Naznin; Watt, Kimberley; Nathoo, Farouk; Johnson, Peter

    2012-01-01

    Research on facial expressions in individuals with Down syndrome (DS) has been conducted using photographs. Our goal was to examine the effect of motion on perception of emotional expressions. Adults with DS, adults with typical development matched for chronological age (CA), and children with typical development matched for developmental age (DA)…

  19. The Effect of Simultaneous Superficial and Proprioceptive Stimulations on Dexterity of Educable 6-7 Years Old Children with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Meisam Mohammadi

    2011-04-01

    Full Text Available Objectives: Down syndrome is the most common chrosomal disorder in which the fine and gross motor skills due to lack of proper sensory experience are disturbed. The role of dexterity in activity of daily living, interaction with environment and independency is quiet crucial in Down syndrome. Therefore, the aim of this study was to investigate the effects of simultaneous application of superficial and proprioceptive stimuli on the dexterity of 6-7 year-old educable children with Down syndrome. Methods: Thirty–three educable children with Down syndrome were assigned in three groups (i.e. superficial, proprioceptive and simultaneous application respectively and voluntarily participated in the study. In the first group, children received only exteroceptive stimulation for 30 minutes, three times a week. Children in the second group received only proprioceptive stimulation in the same way. In the third group, children received both stimulations simultaneously. Dexterity was evaluated through Purdue Pegbourd Test after 5th, 10th, 15th, 20th, 25th, and 30th sessions. Results: Dexterity changes were significantly differed in all three groups (P0.05. Discussion: The findings of current study suggest that simultaneous application of superficial and proprioceptive senses could be used for improvement the dexterity in children with Down syndrome.

  20. "I have a good life": the meaning of well-being from the perspective of young adults with Down syndrome.

    Science.gov (United States)

    Scott, Melissa; Foley, Kitty-Rose; Bourke, Jenny; Leonard, Helen; Girdler, Sonya

    2014-01-01

    The purposes of this study were to explore what makes for a "good life" from the perspective of young adults with Down syndrome and to identify the barriers and facilitators to participation. Twelve young adults with Down syndrome participated in individual and group discussions. Each session began with individual discussions between a researcher and participant, allowing each individual to express their views in their own words. Following individual discussions, participants joined a larger group facilitated by the researchers which allowed for collective reflection and sharing of experiences. Individual discussions were recorded on large poster size pieces of paper through drawings and writing using colourful pens by the participants themselves or with assistance from researchers. Group discussions were audio recorded and one researcher recorded field notes on contextual information. Data were analyzed through open coding and constant comparison techniques to identify categories which were then collapsed into the main themes. Analysis of the transcripts revealed four main themes: "Relationships", "Community participation", "Independence" and "Hopes for the future". These findings highlighted the participants' desire for autonomy, particularly in the domains of living independently and employment. Family relationships and community services were described as both facilitators and barriers to their participation. Overall, the findings from this study revealed that the participants' life perspective was positive, with a general consensus of, "I have a good life". This study yielded many recommendations that could be integrated into transition models of service delivery for young adults with Down syndrome as they develop from adolescence into adulthood. IMPLICATIONS OF REHABILITATION: Young people with Down syndrome want to make decisions for themselves. Community participation is important for young adults with Down syndrome. Young people with Down syndrome have

  1. Prevalence of dental anomalies in the permanent dentition of children with Down syndrome.

    Science.gov (United States)

    Sekerci, Ahmet Ercan; Cantekin, Kenan; Aydinbelge, Mustafa; Ucar, Faruk İzzet

    2014-01-01

    The purpose of this study was to evaluate the prevalence of various congenital dental anomalies in the permanent dentition of Turkish children with Down syndrome. The sample consisted of 216 diagnostic records of children diagnosed with Down syndrome. All subjects had a clinical examination as well as radiographs and photographs taken. Anomalies in the permanent dentition were documented. There was a high incidence of dental anomalies, the most frequent being taurodontism (81 percent), rotation (28 percent), hypodontia (26 percent), tooth impaction (18 percent), ectopic eruption (14 percent), microdontia (13 percent), and hyperdontia (9 percent). Differences in prevalence of congenitally missing teeth, structural anomalies, and positional anomalies reached a statistically significant level regarding gender (Panomalies affecting the permanent dentition, and, in most cases, individuals presented with more than one anomaly.

  2. Skeletal abnormalities in fetuses with Down's syndrome: a radiographic post-mortem study

    International Nuclear Information System (INIS)

    Stempfle, N.; Brisse, H.; Huten, Y.; Fredouille, C.; Nessmann, C.

    1999-01-01

    Objective. To evaluate skeletal abnormalities on post-mortem radiographs of fetuses with Down's syndrome. Materials and methods. Biometrical and morphological criteria, which are used for US prenatal detection of trisomy 21, were assessed. Limb long bones, biparietal diameter (BPD)/occipito-frontal diameter (OFD) ratio, ossification of nasal bones and appearance of the middle phalanx of the fifth digit (P2) in 60 fetuses with Down's syndrome were analysed and compared with 82 normal fetuses matched for gestational age (GA) from 15 to 40 weeks' gestation (WG). Results. We observed reduced growth velocity of limb long bones during the third trimester in both groups, but the reduction was more pronounced in the trisomic group. Brachycephaly was found as early as 15 WG in Down's syndrome and continued throughout gestation (sensitivity 0.28, specificity 1). Ossification of the nasal bones, which can be detected in normal fetuses from 14 WG, was absent in one quarter of trisomic fetuses, regardless of GA. The middle phalanx of the fifth digit was evaluated by comparison with the distal phalanx (P3) of the same digit. We found that P2 was not ossified in 11/31 trisomic fetuses before 23 WG, and was either not ossified or hypoplastic in 17/29 cases after 24 WG (sensitivity 0.56, specificity 1). Conclusions. Three key skeletal signs were present in trisomic fetuses: brachycephaly, absence of nasal bone ossification, and hypoplasia of the middle phalanx of the fifth digit. All these signs are appropriate to prenatal US screening. When present, they fully justify determination of the fetal karyotype by amniocentesis. (orig.)

  3. Mother's Happiness with Cognitive - Executive Functions and Facial Emotional Recognition in School Children with Down Syndrome.

    Science.gov (United States)

    Malmir, Maryam; Seifenaraghi, Maryam; Farhud, Dariush D; Afrooz, G Ali; Khanahmadi, Mohammad

    2015-05-01

    According to the mother's key roles in bringing up emotional and cognitive abilities of mentally retarded children and respect to positive psychology in recent decades, this research is administered to assess the relation between mother's happiness level with cognitive- executive functions (i.e. attention, working memory, inhibition and planning) and facial emotional recognition ability as two factors in learning and adjustment skills in mentally retarded children with Down syndrome. This study was an applied research and data were analyzed by Pearson correlation procedure. Population is included all school children with Down syndrome (9-12 yr) that come from Tehran, Iran. Overall, 30 children were selected as an in access sample. After selection and agreement of parents, the Wechsler Intelligence Scale for Children-Revised (WISC-R) was performed to determine the student's IQ, and then mothers were invited to fill out the Oxford Happiness Inventory (OHI). Cognitive-executive functions were evaluated by tests as followed: Continues Performance Test (CPT), N-Back, Stroop test (day and night version) and Tower of London. Ekman emotion facial expression test was also accomplished for assessing facial emotional recognition in children with Down syndrome, individually. Mother's happiness level had a positive relation with cognitive-executive functions (attention, working memory, inhibition and planning) and facial emotional recognition in her children with Down syndrome, significantly. Parents' happiness (especially mothers) is a powerful predictor for cognitive and emotional abilities of their children.

  4. The Quality of Mainstreaming in Preschool: The Views of Parents of Children with Down Syndrome

    Science.gov (United States)

    Kayhan, Nilay; Özaydin, Latife

    2018-01-01

    Down syndrome (DS), one of the developmental (cognitive) deficits, is the most common syndrome that arises from genetic disorders. The mothers of children with DS who encounter the most intense emotional situations since the tendency to take responsibility the children's care and development usually belongs them. Among these intensive feelings,…

  5. The Effect of Social Skills Training on Socialization Skills in Children with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Hajar Barati

    2012-04-01

    Full Text Available Objectives: The development of social skills, especially skills in relating to peers, is an important capacity that provides the foundations for lifelong success. Some children with disabilities need to learn social skills more directly. The purpose of this study was to determine the effects of social skills training on socialization skills development in children with Down syndrome. Methods: This study was a semi-experimental conducted on thirty-seven student with Down syndrome, 8-12 years old with IQ 55–75. Subjects were divided randomly in two groups (n=18 and control group (n=19. Initially, each of the subjects was assessed by the list of social skills, and then social skill training was performed for 60 minutes, two times weekly, for two months in intervention group, and the socialization skills was evaluated after intervention and 2 months later in the two groups. Results: A significant (P<0.05 improvement in socialization skills was occurred. Follow-up study also showed, improvement of socialization skills were maintained 2 months after the end of training in intervention group (P<0.05. Discussion: It’s seems that training of social skills can improve the socialization skills of children with Down's syndrome.

  6. Sentence Memory of Individuals with Down's Syndrome and Typically Developing Children

    Science.gov (United States)

    Seung, H.-K.; Chapman, R.

    2004-01-01

    Individuals with Down's syndrome (DS) have an auditory short-term memory span disproportionately shorter than the non-verbal mental age (MA). This study evaluated the Baddeley model's claim that verbal short-term memory deficits might arise from slower speaking rates (and thus less material rehearsed in a 2 s passive store) by using the sentence…

  7. Profiles of Everyday Executive Functioning in Young Children with Down Syndrome

    Science.gov (United States)

    Daunhauer, Lisa A.; Fidler, Deborah J.; Hahn, Laura; Will, Elizabeth; Lee, Nancy Raitano; Hepburn, Susan

    2014-01-01

    We investigated executive functioning (EF) in children with Down syndrome (DS; n = 25) and typically developing (TD) children matched for mental age (MA; n = 23) using the Behavior Rating Inventory of Executive Function-Preschool. We sought to (1) compare children with DS to a developmentally matched control group, and (2) to characterize the EF…

  8. Delay and poor diagnosis of Down syndrome in KwaZulu-Natal ...

    African Journals Online (AJOL)

    Background. Down syndrome (DS) is the most common chromosomal disorder in newborns. Until 20 years ago DS was considered rare in black African children in South Africa (SA). Lack of awareness of DS on the part of medical staff in SA, and difficulty in diagnosing it, appear to persist. Objectives. To establish an ...

  9. Changes in Yearly Birth Prevalence Rates of Children with Down Syndrome in the Period 1986-2007 in the Netherlands

    Science.gov (United States)

    de Graaf, G.; Haveman, M.; Hochstenbach, R.; Engelen, J.; Gerssen-Schoorl, K.; Poddighe, P.; Smeets, D.; van Hove, G.

    2011-01-01

    Background: The Netherlands are lacking reliable national empirical data in relation to the development of birth prevalence of Down syndrome. Our study aims at assessing valid national live birth prevalence rates for the period 1986-2007. Method: On the basis of the annual child/adult ratio of Down syndrome diagnoses in five out of the eight Dutch…

  10. Parents' leisure: the impact of raising a child with Down syndrome.

    Science.gov (United States)

    Wayne, Deborah O'Mullan; Krishnagiri, Sheama

    2005-01-01

    A healthy and productive life depends upon the balance between work, leisure, and activities of daily living. Gaining or regaining that balance is a core concept within occupational therapy. Raising a child with special needs is one factor that challenges parents in achieving a balance. The purpose of this research was to describe factors that affect the leisure occupations of these parents. A qualitative approach was used in which in-depth interviews and the adapted Barth Time Construction were administered to four married couples that were raising children with Down syndrome who were between seven and nine years of age. Data was examined through content analysis. Results indicated that the parents of children with Down syndrome had limitations in time available for leisure, changes in types of leisure engaged in, and an increase in planning for leisure activities. Despite overall satisfaction with the manner in which they allocated their time, parents frequently noted the potential benefits of incorporating more leisure into their daily lives. Limitations of the study include type and size of sample.

  11. Dental care access among individuals with Down syndrome: a Malaysian scenario.

    Science.gov (United States)

    Abdul Rahim, Farah Salwa; Mohamed, Alizae Marny; Marizan Nor, Murshida; Saub, Roslan

    2014-11-01

    The purpose of this cross-sectional study was to assess the legal representatives' perceptions on dental care access of individuals with Down syndrome (DS) compared to their non-DS siblings in Peninsular Malaysia. This cross-sectional study was conducted throughout community-based rehabilitation centers (CBRC) and the Down Syndrome Organization. Legal representatives of individuals with DS within the criteria were given a structured and validated questionaire. This study demonstrated that individuals with DS (76.9%) significantly utilized more health services than non-DS siblings (23.1%). The service most regularly used was speech therapy followed by opthalmology and dental services. Twenty-five per cent of respondents reported difficulty in finding dental care services for their DS child and 46.9% admitted that healthcare for their DS child took more time. The majority of DS individuals received less complex dental treatment and none received any orthodontic treatment, despite their severe occlusal problems. A high proportion of parents appear to be able to access dental and medical care for their DS child. However, some parents perceived difficulty in finding oral healthcare.

  12. Timing of muscle response to a sudden leg perturbation: comparison between adolescents and adults with Down syndrome.

    Directory of Open Access Journals (Sweden)

    Maria Stella Valle

    Full Text Available Movement disturbances associated with Down syndrome reduce mechanical stability, worsening the execution of important tasks such as walking and upright standing. To compensate these deficits, persons with Down syndrome increase joint stability modulating the level of activation of single muscles or producing an agonist-antagonist co-activation. Such activations are also observed when a relaxed, extended leg is suddenly released and left to oscillate passively under the influence of gravity (Wartenberg test. In this case, the Rectus femoris of adults with Down syndrome displayed peaks of activation after the onset of the first leg flexion. With the aim to verify if these muscular reactions were acquired during the development time and to find evidences useful to give them a functional explanation, we used the Wartenberg test to compare the knee joint kinematics and the surface electromyography of the Rectus femoris and Biceps femoris caput longus between adolescents and adults with Down syndrome. During the first leg flexion, adolescents and adults showed single Rectus femoris activations while, a restricted number of participants exhibited agonist-antagonist co-activations. However, regardless the pattern of activation, adults initiated the muscle activity significantly later than adolescents. Although most of the mechanical parameters and the total movement variability were similar in the two groups, the onset of the Rectus femoris activation was well correlated with the time of the minimum acceleration variability. Thus, in adolescents the maximum mechanical stability occurred short after the onset of the leg fall, while adults reached their best joint stability late during the first flexion. These results suggest that between the adolescence and adulthood, persons with Down syndrome explore a temporal window to select an appropriate timing of muscle activation to overcome their inherent mechanical instability.

  13. Influence of additional weight on the frequency of kicks in infants with Down syndrome and infants with typical development

    Directory of Open Access Journals (Sweden)

    Gabriela L. Santos

    2014-07-01

    Full Text Available BACKGROUND: Infants with Down syndrome present with organic and neurological changes that may lead to a delay in the acquisition of motor skills such as kicking, a fundamental skill that is a precursor of gait and is influenced by intrinsic and extrinsic factors. Therefore, this movement should be taken into account in early physical therapy interventions in infants. OBJECTIVE: To analyze and to compare the effect of additional weight on the frequency of kicks in infants with Down syndrome and infants with typical development at 3 and 4 months of age. METHOD: Five infants with Down syndrome and five with typical development at 3 and 4 months of age were filmed. The experiment was divided into four experimental conditions lasting 1 minute each: training, baseline, weight (addition of ankle weight with 1/3 the weight of the lower limb, and post-weight. RESULTS: There were significant differences between groups for all variables (p<0.05, with lower frequencies observed for infants with Down syndrome in all variables. There were significant differences between the experimental conditions baseline and post-weight (p<0.001 for both groups in the frequency of contact and success, with a higher frequency in the post-weight condition. CONCLUSIONS: The weight acted as an important stimulus for both groups, directing the kicks toward the target and improving the infants' performance in the task through repetition, however, the infants with Down syndrome had lower frequencies of kicks.

  14. Comparison of different strategies in prenatal screening for Down's syndrome: cost effectiveness analysis of computer simulation.

    Science.gov (United States)

    Gekas, Jean; Gagné, Geneviève; Bujold, Emmanuel; Douillard, Daniel; Forest, Jean-Claude; Reinharz, Daniel; Rousseau, François

    2009-02-13

    To assess and compare the cost effectiveness of three different strategies for prenatal screening for Down's syndrome (integrated test, sequential screening, and contingent screenings) and to determine the most useful cut-off values for risk. Computer simulations to study integrated, sequential, and contingent screening strategies with various cut-offs leading to 19 potential screening algorithms. The computer simulation was populated with data from the Serum Urine and Ultrasound Screening Study (SURUSS), real unit costs for healthcare interventions, and a population of 110 948 pregnancies from the province of Québec for the year 2001. Cost effectiveness ratios, incremental cost effectiveness ratios, and screening options' outcomes. The contingent screening strategy dominated all other screening options: it had the best cost effectiveness ratio ($C26,833 per case of Down's syndrome) with fewer procedure related euploid miscarriages and unnecessary terminations (respectively, 6 and 16 per 100,000 pregnancies). It also outperformed serum screening at the second trimester. In terms of the incremental cost effectiveness ratio, contingent screening was still dominant: compared with screening based on maternal age alone, the savings were $C30,963 per additional birth with Down's syndrome averted. Contingent screening was the only screening strategy that offered early reassurance to the majority of women (77.81%) in first trimester and minimised costs by limiting retesting during the second trimester (21.05%). For the contingent and sequential screening strategies, the choice of cut-off value for risk in the first trimester test significantly affected the cost effectiveness ratios (respectively, from $C26,833 to $C37,260 and from $C35,215 to $C45,314 per case of Down's syndrome), the number of procedure related euploid miscarriages (from 6 to 46 and from 6 to 45 per 100,000 pregnancies), and the number of unnecessary terminations (from 16 to 26 and from 16 to 25 per 100

  15. Hospital admissions in children with down syndrome: experience of a population-based cohort followed from birth.

    Directory of Open Access Journals (Sweden)

    Patrick Fitzgerald

    Full Text Available OBJECTIVE: Children with Down syndrome, the most common genetic cause of intellectual disability, are prone to multiple and varied health-related problems. This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia. METHODS: Birth records were linked to the Western Australian population-based Intellectual Disability database to identify all children born with Down syndrome in Western Australia between 1 January, 1983 and 31 December, 1999. These records were linked to the Hospital Morbidity Data System to provide information on all hospitalisations up to 31 December, 2004. Hospitalisation data, coded using ICD-9CM or ICD-10 (v0.5 were grouped into clinically relevant categories using the primary diagnosis. Rates of hospital admission for all and specific diagnoses were expressed in 1000-person-years at-risk and median age at first admission and length of stay were calculated. RESULTS: Of the 405 children, 395 had one or more hospital admissions, totalling 3786 admissions for all children and an estimated 39.5 person-years in hospital. On average, children were admitted 9.7 times, with an estimated rate of 757.2 admissions per 1000pyr (95% CI: 680, 843. A quarter of all admissions occurred in the first year of life. The average hospital length of stay was 3.8 days (95% CI: 3.7, 4.1. Upper respiratory tract conditions affected the most children (58.5% and accounted for 12.1% of all admissions. Other disorders which affected a high percentage of children were ear/hearing conditions (50.6%, disorders of the oral cavity (38.0% and lower respiratory tract conditions (37.5%. Overall, children with Down syndrome were hospitalised at a rate five times (95% CI = 4.3-6.2 that of the general population. CONCLUSION: Children with Down syndrome are at increased risk of morbidity for varied causes underlining the importance of comprehensive and targeted primary care for this group.

  16. The Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) Scale: Comprehensive Assessment of Psychopathology in Down Syndrome

    Science.gov (United States)

    Dekker, Alain D.; Sacco, Silvia; Carfi, Angelo; Benejam, Bessy; Vermeiren, Yannick; Beugelsdijk, Gonny; Schippers, Mieke; Hassefras, Lyanne; Eleveld, José; Grefelman, Sharina; Fopma, Roelie; Bomer-Veenboer, Monique; Boti, Mariángeles; Oosterling, G. Danielle E.; Scholten, Esther; Tollenaere, Marleen; Checkley, Laura; Strydom, André; Van Goethem, Gert; Onder, Graziano; Blesa, Rafael; zu Eulenburg, Christine; Coppus, Antonia M.W.; Rebillat, Anne-Sophie; Fortea, Juan; De Deyn, Peter P.

    2018-01-01

    People with Down syndrome (DS) are prone to develop Alzheimer’s disease (AD). Behavioral and psychological symptoms of dementia (BPSD) are core features, but have not been comprehensively evaluated in DS. In a European multidisciplinary study, the novel Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) scale was developed to identify frequency and severity of behavioral changes taking account of life-long characteristic behavior. 83 behavioral items in 12 clinically defined sections were evaluated. The central aim was to identify items that change in relation to the dementia status, and thus may differentiate between diagnostic groups. Structured interviews were conducted with informants of persons with DS without dementia (DS, n = 149), with questionable dementia (DS+Q, n = 65), and with diagnosed dementia (DS+AD, n = 67). First exploratory data suggest promising interrater, test-retest, and internal consistency reliability measures. Concerning item relevance, group comparisons revealed pronounced increases in frequency and severity in items of anxiety, sleep disturbances, agitation & stereotypical behavior, aggression, apathy, depressive symptoms, and eating/drinking behavior. The proportion of individuals presenting an increase was highest in DS+AD, intermediate in DS+Q, and lowest in DS. Interestingly, among DS+Q individuals, a substantial proportion already presented increased anxiety, sleep disturbances, apathy, and depressive symptoms, suggesting that these changes occur early in the course of AD. Future efforts should optimize the scale based on current results and clinical experiences, and further study applicability, reliability, and validity. Future application of the scale in daily care may aid caregivers to understand changes, and contribute to timely interventions and adaptation of caregiving. PMID:29689719

  17. The Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) Scale: Comprehensive Assessment of Psychopathology in Down Syndrome.

    Science.gov (United States)

    Dekker, Alain D; Sacco, Silvia; Carfi, Angelo; Benejam, Bessy; Vermeiren, Yannick; Beugelsdijk, Gonny; Schippers, Mieke; Hassefras, Lyanne; Eleveld, José; Grefelman, Sharina; Fopma, Roelie; Bomer-Veenboer, Monique; Boti, Mariángeles; Oosterling, G Danielle E; Scholten, Esther; Tollenaere, Marleen; Checkley, Laura; Strydom, André; Van Goethem, Gert; Onder, Graziano; Blesa, Rafael; Zu Eulenburg, Christine; Coppus, Antonia M W; Rebillat, Anne-Sophie; Fortea, Juan; De Deyn, Peter P

    2018-01-01

    People with Down syndrome (DS) are prone to develop Alzheimer's disease (AD). Behavioral and psychological symptoms of dementia (BPSD) are core features, but have not been comprehensively evaluated in DS. In a European multidisciplinary study, the novel Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) scale was developed to identify frequency and severity of behavioral changes taking account of life-long characteristic behavior. 83 behavioral items in 12 clinically defined sections were evaluated. The central aim was to identify items that change in relation to the dementia status, and thus may differentiate between diagnostic groups. Structured interviews were conducted with informants of persons with DS without dementia (DS, n = 149), with questionable dementia (DS+Q, n = 65), and with diagnosed dementia (DS+AD, n = 67). First exploratory data suggest promising interrater, test-retest, and internal consistency reliability measures. Concerning item relevance, group comparisons revealed pronounced increases in frequency and severity in items of anxiety, sleep disturbances, agitation & stereotypical behavior, aggression, apathy, depressive symptoms, and eating/drinking behavior. The proportion of individuals presenting an increase was highest in DS+AD, intermediate in DS+Q, and lowest in DS. Interestingly, among DS+Q individuals, a substantial proportion already presented increased anxiety, sleep disturbances, apathy, and depressive symptoms, suggesting that these changes occur early in the course of AD. Future efforts should optimize the scale based on current results and clinical experiences, and further study applicability, reliability, and validity. Future application of the scale in daily care may aid caregivers to understand changes, and contribute to timely interventions and adaptation of caregiving.

  18. Palivizumab use in infants with Down syndrome-report from the German Synagis™ Registry 2009-2016.

    Science.gov (United States)

    Simon, Arne; Gehrmann, Susanne; Wagenpfeil, Gudrun; Wagenpfeil, Stefan

    2018-06-01

    Infants with Down syndrome (DS) face an increased risk of respiratory tract infections. Recent studies describe DS as independent risk factor for a complicated clinical course in infants with respiratory syncytial virus (RSV) infection. The prospective observational German Synagis™ Registry comprises data from 249 children below 25 months of age with DS and palivizumab prophylaxis 2009-2016 (1191 administrations; mean 4.8 per patient and season). The median gestational age and the birth weight in patients without and with DS were 31 versus 37 weeks (P versus 2750 g, respectively (P heart disease (CHD), siblings in kindergarten or school, treatment with oxygen at home, immunodeficiency, and neuromuscular impairment. The RSV-related hospitalization rate in patients with DS was 1.20%; the hospitalization rate in patients without DS was 0.71%. Data from 249 children with DS receiving palivizumab prophylaxis in seven consecutive RSV seasons (2009-2016) in Germany reveal important differences between patients with and without DS concerning the main indication for palivizumab use and additional risk factors. Bearing in mind the limitations of an uncontrolled postmarketing observational study, the results confirm the field effectiveness of palivizumab prophylaxis in this special population. What is Known: • Recent studies describe the Down syndrome as independent risk factor for a complicated clinical course in infants with RSV infection. What is New: • Compared with other infants receiving palivizumab prophylaxis, patients with Down syndrome significantly more often had congenital heart disease, siblings in kindergarten or school, treatment with oxygen at home, immunodeficiency, and neuromuscular impairment. • In infants with palivizumab prophylaxis breakthrough, RSV-related hospitalization rates were not significantly higher in those with Down syndrome.

  19. Development of Reaching and Grasping Skills in Infants with Down Syndrome

    Science.gov (United States)

    de Campos, Ana Carolina; Rocha, Nelci Adriana Cicuto Ferreira; Savelsbergh, Geert J. P.

    2010-01-01

    Reaching and grasping skills have been described to emerge from a dynamic interaction between intrinsic and extrinsic factors. The aims of the study were to investigate the effect of such intrinsic factors as age and Down syndrome on the development of reaching and grasping skills and on overall gross motor skill, and to test the influence of the…

  20. Prevalence of autism and attention-deficit-hyperactivity disorder in Down syndrome: a population-based study.

    Science.gov (United States)

    Oxelgren, Ulrika Wester; Myrelid, Åsa; Annerén, Göran; Ekstam, Bodil; Göransson, Cathrine; Holmbom, Agneta; Isaksson, Anne; Åberg, Marie; Gustafsson, Jan; Fernell, Elisabeth

    2017-03-01

    To investigate the prevalence of autism spectrum disorder (ASD) and attention-deficit-hyperactivity disorder (ADHD) in a population-based group of children and adolescents with Down syndrome, and to relate the findings to level of intellectual disability and to medical conditions. From a population-based cohort of 60 children and adolescents with Down syndrome, 41 individuals (29 males, 12 females; mean age 11y, age range 5-17y) for whom parents gave consent for participation were clinically assessed with regard to ASD and ADHD. The main instruments used were the Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, Swanson, Nolan, and Pelham-IV Rating Scale, and the Adaptive Behavior Assessment System-II. High rates of ASD and ADHD were found: 17 (42%) and 14 (34%) of the 41 children met DSM criteria for ASD and ADHD respectively. Children with Down syndrome and coexisting neurodevelopmental/neuropsychiatric disorders in addition to intellectual disability and medical disorders constitute a severely disabled group. Based on the results, we suggest that screening is implemented for both ASD and ADHD, at the age of 3 to 5 years and early school years respectively, to make adequate interventions possible. © 2016 Mac Keith Press.

  1. Self-controlled feedback enhances learning in adults with Down syndrome Feedback autocontrolado melhora a aprendizagem em adultos com síndrome de Down

    Directory of Open Access Journals (Sweden)

    Suzete Chiviacowsky

    2012-06-01

    Full Text Available BACKGROUND: One factor that has consistently been shown to enhance learning in typical participants is self-controlled practice. OBJECTIVES: The purpose of the present study was to examine whether the learning benefits of self-controlled feedback found previously in non-disabled adults would also be found in adults with Down syndrome. METHODS: Participants with Down syndrome practiced a linear positioning task. In the self-control group, learners were provided with feedback about the movement outcome at their request. Each participant in the yoked group received the same feedback schedule as their counterpart in the self-control group. RESULTS: Learning was assessed by a retention test, consisting of 10 trials without feedback, one day later. The self-control group demonstrated more effective learning of the task than the yoked group. CONCLUSION: Self-controlled feedback enhanced motor learning in participants with Down syndrome.CONTEXTUALIZAÇÃO: Uma variável que consistentemente tem mostrado melhorar a aprendizagem em sujeitos típicos é a prática autocontrolada. OBJETIVOS: Examinar se os benefícios do feedback autocontrolado para a aprendizagem, encontrados previamente em adultos típicos, também serão encontrados em adultos que apresentam a Síndrome de Down. MÉTODOS: Participantes com a Síndrome de Down praticaram uma tarefa de posicionamento linear. Os aprendizes do grupo autocontrolado receberam feedback sobre o resultado do movimento, quando solicitado. Já os participantes do grupo pareado receberam o mesmo arranjo de feedback dos sujeitos do grupo autocontrolado. RESULTADOS: A aprendizagem foi avaliada por meio de um teste de retenção, o qual consistiu em dez tentativas sem feedback, um dia depois da fase de prática. O grupo autocontrolado demonstrou aprendizagem mais efetiva da tarefa do que o grupo pareado. CONCLUSÃO: Feedback autocontrolado melhora a aprendizagem motora em sujeitos com a Síndrome de Down.

  2. Prosodic Skills in Children with Down Syndrome and in Typically Developing Children

    Science.gov (United States)

    Zampini, Laura; Fasolo, Mirco; Spinelli, Maria; Zanchi, Paola; Suttora, Chiara; Salerni, Nicoletta

    2016-01-01

    Background: Many studies have analysed language development in children with Down syndrome to understand better the nature of their linguistic delays and the reason why these delays, particularly those in the morphosyntactic area, seem greater than their cognitive impairment. However, the prosodic characteristics of language development in…

  3. Expressive Vocabulary in Young Children with Down Syndrome: From Research to Treatment.

    Science.gov (United States)

    Kumin, Libby; Councill, Cheryl; Goodman, Mina

    1999-01-01

    Expressive vocabulary was studied in 130 children (ages 1 to 5 years) with Down syndrome. Although there was continuous growth in expressive referential vocabulary from birth through 5 years, age 5 was found to be an important developmental marker for multiword combinations and grammatical vocabulary. (Author/CR)

  4. Cardiac Autonomic Function during Submaximal Treadmill Exercise in Adults with Down Syndrome

    Science.gov (United States)

    Mendonca, Goncalo V.; Pereira, Fernando D.; Fernhall, Bo

    2011-01-01

    This study determined whether the cardiac autonomic function of adults with Down syndrome (DS) differs from that of nondisabled persons during submaximal dynamic exercise. Thirteen participants with DS and 12 nondisabled individuals performed maximal and submaximal treadmill tests with metabolic and heart rate (HR) measurements. Spectral analysis…

  5. Reliability of Diagnosing Clinical Hypothyroidism in Adults with Down Syndrome. Brief Report.

    Science.gov (United States)

    Prasher, V. P.

    1995-01-01

    The accuracy of diagnosing hypothyroidism in 160 adults with Down syndrome was examined. A significant association between a clinical diagnosis of hypothyroidism and increasing age was found but no significant association was found between a clinical and a biochemical diagnosis. Regular biochemical screening is recommended. (Author/SW)

  6. Early thyroxine treatment in Down syndrome and thyroid function later in life

    NARCIS (Netherlands)

    Zwaveling-Soonawala, Nitash; Witteveen, M. Emma; Marchal, Jan Pieter; Klouwer, Femke C. C.; Ikelaar, Nadine A.; Smets, Anne M. J. B.; van Rijn, Rick R.; Endert, Erik; Fliers, Eric; van Trotsenburg, A. S. Paul

    2017-01-01

    Objective: The hypothalamus-pituitary-thyroid (HPT) axis set point develops during the fetal period and first two years of life. We hypothesized that thyroxine treatment during these first two years, in the context of a randomized controlled trial (RCT) in children with Down syndrome, may have

  7. Investigation and analysis of etiology of down's syndrome in children of high background radiation area

    International Nuclear Information System (INIS)

    Zha Yongru

    1985-01-01

    In order to find out what caused the differences in incidences of Down's syndrome between the children in high background radiation area and those in control area, investigation and analysis were carried ou in 5 aspects based on the original data and the information from the previous survey. These are: the incidences of congenital malformations in normal areas, the age distribution of children examined, the maternal age, the dates of birth of afflicted children, and the radiation exposure of mothers. The results suggested that the higher incidence of Down's syndrome in high background area might be related to the materal age. Further studies are needed to arrive at a conclusion

  8. Assessment of coeliac disease prevalence in patients with Down syndrome in Poland - a multi-centre study.

    Science.gov (United States)

    Szaflarska-Popławska, Anna; Soroczyńska-Wrzyszcz, Anetta; Barg, Ewa; Józefczuk, Jan; Korczowski, Bartosz; Grzybowska-Chlebowczyk, Urszula; Więcek, Sabina; Cukrowska, Bożena

    2016-01-01

    The results of studies assessing whether patients with Down syndrome have increased risk of coeliac disease are contradictory. The prevalence of coeliac disease in patients with Down syndrome is estimated at a wide range between 1% to as much as 18.6%. To assess coeliac disease prevalence in patients with Down syndrome in Poland. The study enrolled 301 patients with Down syndrome from six centres in Poland (Wroclaw, Sandomierz, Rzeszow, Grudziadz, Katowice, and Bydgoszcz). We measured the concentration of anti-tissue transglutaminase IgA antibodies and anti-deamidated gliadin peptide IgG antibodies in all patients. Patients with abnormal positive (> 10 U/ml) or inconclusive (7-10 U/ml) result of the serological test were offered endoscopic biopsy of the small intestine in the main centre. In 31 (10.3%) patients increased concentrations of the investigated antibodies were found, including 19 (6.3%) patients with increased tTg-IgA concentration, 27 (8.97%) patients with increased concentration of DGP-IgG, and 15 (4.98%) patients with increased concentration of both types of antibodies. Endoscopic biopsy of the small intestine was planned for all 31 patients with abnormal results of at least one antibody test and for 2 patients with inconclusive results. One of them suffered from previously diagnosed and histologically confirmed coeliac disease. Biopsy was not conducted in 9 patients due to contraindications, lack of their consent, or introduction of a gluten-free diet by the parents before the examination. In a group of 23 patients who underwent endoscopic biopsy of the small intestine, in 15 patients the histopathological picture of the small intestinal mucosa was typical for coeliac disease, 2 patients were diagnosed with lesions of grade 1 according to the classification by Marsh-Oberhuber, 1 patient was diagnosed with focal shortening of villi and hypertrophy of the crypts with no intraepithelial lymphocytosis (remains under gastrological observation), 2 patients

  9. The advantage of reading over listening text comprehension in Down syndrome: what is the role of verbal memory?

    Science.gov (United States)

    Roch, Maja; Florit, Elena; Levorato, M Chiara

    2012-01-01

    The current study was designed to investigate the role played by verbal memory in the advantage shown by individuals with Down syndrome in reading over listening text comprehension (Roch & Levorato, 2009). Two different aspects of verbal memory were analyzed: processing load and coding modality. Participants were 20 individuals with Down syndrome, aged between 11 and 26 years who were matched for reading comprehension with a group of 20 typically developing children aged between 6;3 and 7;3 years. The two groups were presented with a listening comprehension test and four verbal memory tasks in which the degree of processing load and the coding modality were manipulated. The results of the study confirmed the advantage of reading over listening comprehension for individuals with Down syndrome. Furthermore, it emerged that different aspects of verbal memory were related respectively to reading and to listening comprehension: visual memory with low processing load was related to the former and oral memory with high processing load to the latter. Finally, it was demonstrated that verbal memory contributed to explain the advantage of reading over listening comprehension in Down syndrome. The results are discussed in light of their theoretical relevance and practical implications. Copyright © 2011 Elsevier Ltd. All rights reserved.

  10. Alterations of in vivo CA1 network activity in Dp(16)1Yey Down syndrome model mice.

    Science.gov (United States)

    Raveau, Matthieu; Polygalov, Denis; Boehringer, Roman; Amano, Kenji; Yamakawa, Kazuhiro; McHugh, Thomas J

    2018-02-27

    Down syndrome, the leading genetic cause of intellectual disability, results from an extra-copy of chromosome 21. Mice engineered to model this aneuploidy exhibit Down syndrome-like memory deficits in spatial and contextual tasks. While abnormal neuronal function has been identified in these models, most studies have relied on in vitro measures. Here, using in vivo recording in the Dp(16)1Yey model, we find alterations in the organization of spiking of hippocampal CA1 pyramidal neurons, including deficits in the generation of complex spikes. These changes lead to poorer spatial coding during exploration and less coordinated activity during sharp-wave ripples, events involved in memory consolidation. Further, the density of CA1 inhibitory neurons expressing neuropeptide Y, a population key for the generation of pyramidal cell bursts, were significantly increased in Dp(16)1Yey mice. Our data refine the 'over-suppression' theory of Down syndrome pathophysiology and suggest specific neuronal subtypes involved in hippocampal dysfunction in these model mice. © 2018, Raveau et al.

  11. Impaired verbal short-term memory in Down syndrome reflects a capacity limitation rather than atypically rapid forgetting.

    Science.gov (United States)

    M Purser, Harry R; Jarrold, Christopher

    2005-05-01

    Individuals with Down syndrome suffer from relatively poor verbal short-term memory. Recent work has indicated that this deficit is not caused by problems of audition, speech, or articulatory rehearsal within the phonological loop component of Baddeley and Hitch's working memory model. Given this, two experiments were conducted to investigate whether abnormally rapid decay underlies the deficit. In a first experiment, we attempted to vary the time available for decay using a modified serial recall procedure that had both verbal and visuospatial conditions. No evidence was found to suggest that forgetting is abnormally rapid in phonological memory in Down syndrome, but a selective phonological memory deficit was indicated. A second experiment further investigated possible problems of decay in phonological memory, restricted to item information. The results indicated that individuals with Down syndrome do not show atypically rapid item forgetting from phonological memory but may have a limited-capacity verbal short-term memory system.

  12. Psychological Support for Young Adults with Down Syndrome: Dohsa-Hou Program for Maladaptive Behaviors and Internalizing Problems

    Directory of Open Access Journals (Sweden)

    Haruo Fujino

    2017-09-01

    Full Text Available Psychological and psychiatric dysfunction is a major problem in a substantial proportion of young adults with Down syndrome. Some patients develop psychiatric issues, such as depressive, obsessive-compulsive, or psychotic-like disorders, in their late adolescence or young adulthood. Furthermore, these individuals may experience moderate to severe emotional and psychological distress. Development of a psychosocial treatment to address these issues is needed in addition to psychotropic medication. The current study reports two cases of young adults with Down syndrome, who presented psychiatric symptoms and marked disruption in their daily lives. These individuals participated in a Dohsa-hou treatment program. Following treatment, adaptive levels, maladaptive behaviors, and internalizing problems were evaluated by the Vineland Adaptive Behavior Scales-II. Participants showed improvement in maladaptive behaviors and internalizing problems; however, improvement in these areas may be influenced by baseline severity of the problems. This case report suggests that Dohsa-hou could be an effective therapeutic approach for maladaptive and internalizing problems in adults with Down syndrome.

  13. The Effect of Acetyl-L-Carnitine Administration on Persons with Down Syndrome

    Science.gov (United States)

    Pueschel, Siegfried M.

    2006-01-01

    Since previous investigations reported improvements in cognition of patients with dementia after acetyl-L-carnitine therapy and since there is an increased risk for persons with Down syndrome to develop Alzheimer disease, this study was designed to investigate the effect of acetyl-L-carnitine administration on neurological, intellectual, and…

  14. Implicit and Explicit Olfactory Memory in People with and without Down Syndrome

    Science.gov (United States)

    Johns, Adam; Homewood, Judi; Stevenson, Richard; Taylor, Alan

    2012-01-01

    This study examined differences in implicit and explicit memory performance between people with Down syndrome (DS), their siblings, children matched on mental age, and university undergraduates, using olfactory stimuli. The DS and mental-age matched participants were also compared on two tasks of executive function. The data revealed implicit…

  15. Early thyroxine treatment in Down syndrome and thyroid function later in life.

    Science.gov (United States)

    Zwaveling-Soonawala, Nitash; Witteveen, M Emma; Marchal, Jan Pieter; Klouwer, Femke C C; Ikelaar, Nadine A; Smets, Anne M J B; van Rijn, Rick R; Endert, Erik; Fliers, Eric; van Trotsenburg, A S Paul

    2017-05-01

    The hypothalamus-pituitary-thyroid (HPT) axis set point develops during the fetal period and first two years of life. We hypothesized that thyroxine treatment during these first two years, in the context of a randomized controlled trial (RCT) in children with Down syndrome, may have influenced the HPT axis set point and may also have influenced the development of Down syndrome-associated autoimmune thyroiditis. We included 123 children with Down syndrome 8.7 years after the end of an RCT comparing thyroxine treatment vs placebo and performed thyroid function tests and thyroid ultrasound. We analyzed TSH and FT4 concentrations in the subgroup of 71 children who were currently not on thyroid medication and had no evidence of autoimmune thyroiditis. TSH concentrations did not differ, but FT4 was significantly higher in the thyroxine-treated group than that in the placebo group (14.1 vs 13.0 pmol/L; P  = 0.02). There was an increase in anti-TPO positivity, from 1% at age 12 months to 6% at age 24 months and 25% at age 10.7 years with a greater percentage of children with anti-TPO positivity in the placebo group (32%) compared with the thyroxine-treated group (18.5%) ( P  = 0.12). Thyroid volume at age 10.7 years (mean: 3.4 mL; range: 0.5-7.5 mL) was significantly lower ( P  treatment during the first two years of life led to a mild increase in FT4 almost 9 years later on and may point to an interesting new mechanism influencing the maturing HPT axis set point. Furthermore, there was a trend toward less development of thyroid autoimmunity in the thyroxine treatment group, suggesting a protective effect of the early thyroxine treatment. Lastly, thyroid volume was low possibly reflecting Down-specific thyroid hypoplasia. © 2017 European Society of Endocrinology.

  16. Thyroid dysfunction in Down's syndrome and screening for hypothyroidism in children and adolescents using capillary TSH measurement.

    LENUS (Irish Health Repository)

    Murphy, J

    2008-02-01

    Thyroid dysfunction is more common in individuals with Down\\'s syndrome (DS) than in the general population, whose clinical features can mask the presenting signs and symptoms of hypothyroidism. Biochemical screening is necessary; however, venepuncture may be difficult.

  17. Developing an Informant Questionnaire for Cognitive Abilities in Down Syndrome: The Cognitive Scale for Down Syndrome (CS-DS.

    Directory of Open Access Journals (Sweden)

    Carla M Startin

    Full Text Available Down syndrome (DS is the most common genetic cause of intellectual disability (ID. Abilities relating to executive function, memory and language are particularly affected in DS, although there is a large variability across individuals. People with DS also show an increased risk of developing dementia. While assessment batteries have been developed for adults with DS to assess cognitive abilities, these batteries may not be suitable for those with more severe IDs, dementia, or visual / hearing difficulties. Here we report the development of an informant rated questionnaire, the Cognitive Scale for Down Syndrome (CS-DS, which focuses on everyday abilities relating to executive function, memory and language, and is suitable for assessing these abilities in all adults with DS regardless of cognitive ability. Complete questionnaires were collected about 128 individuals with DS. After final question selection we found high internal consistency scores across the total questionnaire and within the executive function, memory and language domains. CS-DS scores showed a wide range, with minimal floor and ceiling effects. We found high interrater (n = 55 and test retest (n = 36 intraclass correlations. CS-DS scores were significantly lower in those aged 41+ with significant cognitive decline compared to those without decline. Across all adults without cognitive decline, CS-DS scores correlated significantly to measures of general abilities. Exploratory factor analysis suggested five factors within the scale, relating to memory, self-regulation / inhibition, self-direction / initiation, communication, and focussing attention. The CS-DS therefore shows good interrater and test retest reliability, and appears to be a valid and suitable informant rating tool for assessing everyday cognitive abilities in a wide range of individuals with DS. Such a questionnaire may be a useful outcome measure for intervention studies to assess improvements to cognition, in

  18. Investigation of a cluster of children with Down's syndrome born to mothers who had attended a school in Dundalk, Ireland.

    Science.gov (United States)

    Dean, G; Nevin, N C; Mikkelsen, M; Karadima, G; Petersen, M B; Kelly, M; O'Sullivan, J

    2000-12-01

    To investigate a reported cluster of Down's syndrome in offspring of former pupils of a girls' school in Ireland, to establish the prevalence of Down's syndrome among live births in the area around the school, and to review the literature on the possible causes of reported clusters of Down's syndrome. Questionnaire survey of obstetric and personal histories of women who had attended the girls' school at Dundalk, County Louth, Republic of Ireland, at some time during 1956-7, and also of women who had attended another, nearby, girls' school during the same period. Comparison of observed numbers of cases of Down's syndrome identified by these surveys with maternal age adjusted expected numbers for the reported live births. Laboratory tests were conducted to verify and characterise the cases of Down's syndrome constituting the cluster. Retrospective collection and collation of data on Down's syndrome occurring among live births, and the compilation of maternal age specific incidences, in County Louth and in Newry and Mourne District in neighbouring Northern Ireland, during 1961-80. These rates were compared with reference rates and rates for other areas of Ireland. Six children with Down's syndrome were confirmed among 387 reported live births to women who had been pupils at the girls' school in Dundalk during 1956-7, compared with 0.69 expected (nominal p<10(-4)). Five of the affected births were to mothers under 30 years of age, against 0.15 expected (nominal p<10(-6)), although only four of these mothers were attending the school at any one time. The origin of the non-disjunction was found to be maternal first meiotic in four children, mitotic after fertilisation in another (with the youngest mother), and in the remaining one could not be determined. The marked excess of Down's syndrome in births to young mothers did not extend to offspring of former pupils of the other Dundalk girls' school surveyed, or to live births in County Louth generally or in adjacent Newry

  19. Memory profiles of Down, Williams, and fragile X syndromes: implications for reading development.

    Science.gov (United States)

    Conners, Frances A; Moore, Marie S; Loveall, Susan J; Merrill, Edward C

    2011-06-01

    The purpose of this review was to understand the types of memory impairments that are associated with intellectual disability (ID, formerly called mental retardation) and the implications of these impairments for reading development. Specifically, studies on working memory, delayed memory and learning, and semantic/conceptual memory in Down syndrome, Williams syndrome, and fragile X syndrome were examined. A distinct memory profile emerged for each of the 3 etiologies of ID. Memory profiles are discussed in relation to strengths and weaknesses in reading skills in these three etiologies. We suggest that reading instruction be designed to capitalize on relatively stronger memory skills while providing extra support for especially challenging aspects of reading.

  20. A study of new potential risk factors for Down syndrome in Upper Egypt

    African Journals Online (AJOL)

    Hatem M.A. Shalaby

    habits (cigarettes/coffee used) of father, or mother not undergone ante-natal scanning as a part of ante-natal ... E-mail address: hatshal2006@yahoo.com. 1110-8630 ... the Down syndrome cases and the 20 apparently healthy chil- dren that ...

  1. Bilingualism and Biliteracy in Down Syndrome: Insights from a Case Study

    Science.gov (United States)

    Burgoyne, Kelly; Duff, Fiona J.; Nielsen, Dea; Ulicheva, Anastasia; Snowling, Margaret J.

    2016-01-01

    We present the case study of MB--a bilingual child with Down syndrome (DS) who speaks Russian (first language [L1]) and English (second language [L2]) and has learned to read in two different alphabets with different symbol systems. We demonstrate that, in terms of oral language, MB is as proficient in Russian as English, with a mild advantage for…

  2. Family members and health professionals' perspectives on future life planning of ageing people with Down syndrome: a qualitative study.

    Science.gov (United States)

    Covelli, Venusia; Raggi, Alberto; Paganelli, Chiara; Leonardi, Matilde

    2017-08-08

    To address the way in which primary caregivers of people over 45 with Down syndrome describe daily life activities and context and foresee their future. Thirteen family members and 15 health professionals participated to four focus groups. Meaningful concepts were identified and linked to the International Classification of Functioning, Disability and Health using established linking rules. A total of 258 relevant concepts were identified and linked to 75 categories of the classification: 38 were from activity and participation and 17 from environmental factors domains. The most commonly reported issues were mental functions (b117-intellectual functions and b152-emotional functions), community life activities (d910-community life and d920-recreation and leisure) and environmental factors (e310-support of immediate family, e355-support from health professionals and e555-associations and organizational services). Information on the daily life and health of ageing people with Down syndrome is important to plan social and health care interventions tailored to deal with problems that they may encounter in older age. Considering the interaction between health and environment and maintaining a continuity of daily routines were reported as the most relevant topics for managing daily lives of persons with Down syndrome in older ages. Implications for rehabilitation Pay more attention to the interaction between environmental factors and health condition in ageing people with Down syndrome. Information about the life contest are important in order to plan present and future social-health care interventions. Future planning for people with Down syndrome is a great concern for family members.

  3. Obsessive Compulsive Disorder Treatment in Patients with Down Syndrome: A Case Series

    Science.gov (United States)

    Sutor, Bruce; Hansen, Mark R.; Black, John L.

    2006-01-01

    In this case series we report four cases of patients with Down syndrome with symptoms consistent with obsessive compulsive disorder. Each patient experienced substantial reduction in compulsive behaviors with pharmacotherapy of an SSRI alone or with the addition of risperidone to SSRI therapy. None of the patients experienced significant side…

  4. Visions for Literacy: Parents' Aspirations for Reading in Children with Down Syndrome

    Science.gov (United States)

    Ricci, Leila; Osipova, Anna

    2012-01-01

    Although children with Down syndrome (DS) can learn to read, few studies have explored parental perspectives on the reading development of this group of children. This article, written by Leila Ricci and Anna Osipova, from California State University, explores visions and expectations regarding reading held by parents of children with Down…

  5. Going to College: The Experiences of a Young Woman with Down Syndrome.

    Science.gov (United States)

    Hamill, Lee B.

    2003-01-01

    This qualitative study examined the college experience of an individual with Down syndrome who audited two academic courses and participated in various nonacademic campus activities. Themes identified included: (1) the meaning of going to college; (2) the development and meaning of college friendships; (3) negotiation of the academic program; and…

  6. Mother’s Happiness with Cognitive - Executive Functions and Facial Emotional Recognition in School Children with Down Syndrome

    Science.gov (United States)

    MALMIR, Maryam; SEIFENARAGHI, Maryam; FARHUD, Dariush D.; AFROOZ, G.Ali; KHANAHMADI, Mohammad

    2015-01-01

    Background: According to the mother’s key roles in bringing up emotional and cognitive abilities of mentally retarded children and respect to positive psychology in recent decades, this research is administered to assess the relation between mother’s happiness level with cognitive- executive functions (i.e. attention, working memory, inhibition and planning) and facial emotional recognition ability as two factors in learning and adjustment skills in mentally retarded children with Down syndrome. Methods: This study was an applied research and data were analyzed by Pearson correlation procedure. Population is included all school children with Down syndrome (9–12 yr) that come from Tehran, Iran. Overall, 30 children were selected as an in access sample. After selection and agreement of parents, the Wechsler Intelligence Scale for Children-Revised (WISC-R) was performed to determine the student’s IQ, and then mothers were invited to fill out the Oxford Happiness Inventory (OHI). Cognitive-executive functions were evaluated by tests as followed: Continues Performance Test (CPT), N-Back, Stroop test (day and night version) and Tower of London. Ekman emotion facial expression test was also accomplished for assessing facial emotional recognition in children with Down syndrome, individually. Results: Mother’s happiness level had a positive relation with cognitive-executive functions (attention, working memory, inhibition and planning) and facial emotional recognition in her children with Down syndrome, significantly. Conclusion: Parents’ happiness (especially mothers) is a powerful predictor for cognitive and emotional abilities of their children. PMID:26284205

  7. Clinical Characteristics of Down Syndrome Children With Congenital Heart Disease in a Developing Country

    Directory of Open Access Journals (Sweden)

    Mottaghi Moghaddam

    2015-11-01

    Full Text Available Background Down syndrome (DS is the most common chromosomal abnormality in newborns and is associated with other congenital malformations and health problems. The features of Down syndrome differ according to ethnicity and geographic region. Objectives The main aim was to assess the clinical characteristics of DS patients in a referral pediatric cardiology department. Patients and Methods In this cross-sectional study, we assessed the clinical characteristics of children with Down syndrome and heart defects in an educational hospital over 11 years (from September 2001 to September 2012 in Iran. All data were collected according to a checklist created by the researchers, which included the clinical information, genetic characteristics, cardiac and non-cardiac co-existing diseases, and parental variables of the children. An independent t-test and a chi-square test were used to compare qualitative variables such as birth weight and age of diagnosis. P < 0.05 was considered statistically significant. Results 100 patients with Down syndrome and congenital heart disease were evaluated; 52 were female (52% and 48 were male (48%. The average birth weight of the subjects was 2745 ± 523 (mean ± SD grams. The mean age of the patients’ mothers was 32 ± 6 years, and the mean age of the patients’ fathers was 36 ± 6 years. Chromosomal analysis was performed for 61 patients, 60 of whom had free trisomy (98.4%, one of whom had translocation (1.6%, and none of whom had a mosaic pattern of chromosomal abnormality. The parents of 33 the patients in this study were consanguineous. All patients had cardiac disorders, but non-cardiac disorder also was recorded in 37 patients (37%. The most common non-cardiac disorder in patients was hypothyroidism, and the second most common was gastrointestinal problems. Conclusions Parents were blood relatives in 33 (33% of the patient cases, which is a very high rate. Therefore, non-random mating is an important issue in

  8. Quantitative sensory testing of temperature, pain, and touch in adults with Down syndrome

    NARCIS (Netherlands)

    de Knegt, N.C.; Defrin, R.; Schuengel, C.; Lobbezoo, F.; Evenhuis, H.M.; Scherder, E.J.A.

    2015-01-01

    The spinothalamic pathway mediates sensations of temperature, pain, and touch. These functions seem impaired in children with Down syndrome (DS), but have not been extensively examined in adults. The objective of the present study was to compare the spinothalamic-mediated sensory functions between

  9. Effect of Sensory Integration Therapy on Gross and Fine Motor Skills of 5-7 Years old Children with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Hossein Sourtji

    2008-07-01

    Full Text Available Objective: Children with Down syndrome have sensory integration dysfunction, and a range of physical problems and difficulties that may affect their motor development. The aim of present study was to determine effectiveness of sensory integration therapy on gross and fine motor skills of 5-7 years old children with Down syndrome.  Materials & Methods: Sixty 5-7 years old children were diagnosed as having Down syndrome, were selected by randomized sampling and participated in this experimental study. Each participant was assessed by researcher, that the assessment used was Peabody Developmental Motor Scales. The children were randomly assigned to the intervention (sensory integration therapy and control groups. Sensory integration therapy was given to intervention group. Data were analyzed by Leven test, Independent T test and covariance analysis. Results: There was significant difference between pretest and post test scores of intervention and control groups in gross motor development (P<0.000, but in fine motor development there was significant difference between pretest and post test scores only in intervention group (P<0.001 and in control group it wasn’t significant (P=0.013. Also there was significant difference between two groups in gross and fine motor development (P<0.001. Conclusion: The results showed the sensory integration therapy were effective in gross and fine motor of children with Down syndrome. It was concluded that sensory integration therapy should be applied for children with Down syndrome who have gross and fine motor difficulties.

  10. Infectious Complications in Children With Acute Myeloid Leukemia and Down Syndrome: Analysis of the Prospective Multicenter Trial AML-BFM 2004.

    Science.gov (United States)

    Hassler, Angela; Bochennek, Konrad; Gilfert, Julia; Perner, Corinna; Schöning, Stefan; Creutzig, Ursula; Reinhardt, Dirk; Lehrnbecher, Thomas

    2016-06-01

    Children with acute myeloid leukemia (AML) and Down syndrome have high survival rates with intensity-reduced chemotherapeutic regimens, although the optimal balance between dose intensity and treatment toxicity has not been determined. We, therefore, characterized infectious complications in children with AML and Down syndrome treated according to AML-BFM 2004 study (ClinicalTrials.gov NCT00111345; amended 2006 for Down syndrome with reduced intensity). Data on infectious complications were gathered from the medical records in the hospital where the patient was treated. Infectious complications were categorized as fever without identifiable source (FUO), or as microbiologically or clinically documented infections. A total of 157 infections occurred in 61 patients (60.5% FUO, 9.6% and 29.9% clinically and microbiologically documented infections, respectively). Almost 90% of the pathogens isolated from the bloodstream were Gram-positive bacteria, and approximately half of them were viridans group streptococci. All seven microbiologically documented episodes of pneumonia were caused by viruses. Infection-related mortality was 4.9%, and all three patients died due to viral infection. Our data demonstrate that a reduced-intensity chemotherapeutic regimen in children with AML and Down syndrome is still associated with high morbidity. Although no patient died due to bacteria or fungi, viruses were responsible for all lethal events. Future studies, therefore, have to focus on the impact of viruses on morbidity and mortality of patients with AML and Down syndrome. © 2016 Wiley Periodicals, Inc.

  11. Acomparative Study Comparing Low-dose Step-up Versus Step-down in Polycystic Ovary Syndrome Resistant to Clomiphene

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    S Peivandi

    2010-03-01

    Full Text Available Introduction: Polycystic ovary syndrome(PCOS is one of the most common cause of infertility in women. clomiphene is the first line of treatment. however 20% of patients are resistant to clomiphene. because of follicular hypersensitivity to gonadotropins in pcod, multiple follicular growth and development occurs which is cause of OHSS and multiple pregnancy. Our aim of this random and clinical study was comparation between step-down and low dose step-up methods for induction ovulation in clomiphene resistant. Methods: 60 cases were included 30 women in low-dose step-up group and 30 women in step-down group. In low-dose step-up HMG 75u/d and in step-down HMG 225u/d was started on 3th days of cycle, monitoring with vaginal sonography was done on 8th days of cycle. When follicle with>14 mm in diameter was seen HMG dose was continued in low-dose step-up and was decreased in step-down group. When follicle reached to 18mm in diameter, amp HCG 10000 unit was injected and IUI was performed 36 hours later. Results: Number of HMG ampules, number of follicles> 14mm on the day of HCG injection and level of serum estradiol was greater in low dose step up protocol than step down protocol(p<0/0001. Ovulation rate and pregnancy rate was greater in lowdose step up group than step down group with significant difference (p<0/0001. Conclusion: Our study showed that low-dose step-up regimen with HMG is effective for stimulating ovulation and clinical pregnancy but in view of monofollicular growth, the step down method was more effective and safe. In our study multifolliular growth in step-up method was higher than step-down method. We can predict possibility of Ovarian Hyperstimulation Syndrome syndrome in highly sensitive PCOS patients.

  12. Spatial-Simultaneous and Spatial-Sequential Working Memory in Individuals with Down Syndrome: The Effect of Configuration

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    Carretti, Barbara; Lanfranchi, Silvia; Mammarella, Irene C.

    2013-01-01

    Earlier research showed that visuospatial working memory (VSWM) is better preserved in Down syndrome (DS) than verbal WM. Some differences emerged, however, when VSWM performance was broken down into its various components, and more recent studies revealed that the spatial-simultaneous component of VSWM is more impaired than the spatial-sequential…

  13. [Ethical aspects of disclosing information on prenatal screening for Down's syndrome].

    Science.gov (United States)

    Tóth, Adél; Szabó, János

    2005-02-06

    Giving detailed information on prenatal screening for Down's syndrome is considered as paramount since this medical procedure intends to enhance the patient's self-governance in reproductive issues. Not only the respect for autonomy, but also the increased maternal anxiety and the reproductive decisions following the positive test result demand from the genetic professional to offer the test through genetic counselling. The counsellor's awareness about the expectations of pregnant women and the clarification of her own attitude concerning the screening can contribute to the effectiveness of counselling. The content of information embraces the technical aspects of screening and its consequences, like the description of Down's syndrome, the method of screening, the way of risk assessment, the detection rate, the false positive and false negative test results, the diagnostic procedures, and the termination of pregnancy. Written information leaflets should be completed by personal communication as the combination of these two forms has proved to be the most useful. The process of consultation is influenced by the communication skill of the genetic professional and the information seeking activity of the patient, so doctors should be trained to communicate better and patients should be encouraged to get more information about the screening.

  14. Mental Illness, Behavior Problems, and Social Behavior in Adults with Down Syndrome

    Science.gov (United States)

    Straccia, Claudio; Baggio, Stéphanie; Barisnikov, Koviljka

    2014-01-01

    Little is known about the behavioral characteristics of adults with Down syndrome (DS) without dementia. The main purpose of this study was to investigate the psychopathology and social behavior among adults with DS compared to adults with nonspecific intellectual disability (NSID). Thirty-four adults with DS were individually matched with 34…

  15. Dental development in Down syndrome and healthy children: a comparative study using the Demirjian method.

    Science.gov (United States)

    van der Linden, M S; Vucic, S; van Marrewijk, D J F; Ongkosuwito, E M

    2017-05-01

    In children with Down syndrome, the timing of dental eruption is important for orthodontics treatment planning. Aim of this study was to determine whether tooth eruption and development of the dentition in children with Down syndrome are impaired. Dental development was scored on orthopantomograms (OPTs) of 95 children with Down syndrome. The dental age was determined at the left mandibular side according to the Demirjian method and by converting the assigned scores to the dental maturity score. Dental development scores of control children and DS children were compared with a mixed model linear regression analysis. The model showed statistically significant changes relating to increasing age (Pchildren and the control group after using the Nyström imputation (with and without hypodontia). The findings showed that dental development in DS children is similar to the development of control children and that a relationship exists between hypodontia and dental development. The clinically observed late eruption is probably not due to late dental development but due to the other processes that take place during eruption, such as the possible impaired processes at the apical side and the occlusal side of an erupting element. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  16. The absence of radiation-induced adaptive response in lymphocytes of patients with Down's syndrome

    International Nuclear Information System (INIS)

    Khandogina, E.K.; Mutovin, G.R.; Zvereva, S.V.; Zverev, D.O.; Neudakhin, E.V.; Arkhipov, B.A.; Akif'ev, A.P.; AN SSSR, Moscow

    1991-01-01

    The adaptive syndrome and response (AR) in lymphocytes from 6 patients with Down syndrome (DS) were investigated. No AR was found to occur in all cases in DS cells pre-exposed to 3 rad of X-rays in S phase of cell cycle and then irradiated with 150 rad of gamma rays in G2 whereas the chromosome aberrations yield in cells from control donors was decreased twice under such conditions of the experiment

  17. Advances in prenatal screening for Down syndrome: II first trimester testing, integrated testing, and future directions.

    Science.gov (United States)

    Benn, Peter A

    2002-10-01

    The acceptability of prenatal screening and diagnosis of Down syndrome is dependent, in part, on the gestational age at which the testing is offered. First trimester screening could be advantageous if it has sufficient efficacy and can be effectively delivered. Two first trimester maternal serum screening markers, pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotropin (beta-hCG), are useful for identifying women at increased risk for fetal Down syndrome. In addition, measurement of an enlarged thickness of the subcutaneous fluid-filled space at the back of the neck of the developing fetus (referred to as nuchal translucency or NT) has been demonstrated to be an indicator for these high-risk pregnancies. When these three parameters are combined, estimates for Down syndrome efficacy exceed those currently attainable in the second trimester. Women who are screen-positive in the first trimester can elect to receive cytogenetic testing of a chorionic villus biopsy. The first trimester tests could also, theoretically, be combined with the second trimester maternal serum screening tests (integrated screening) to obtain even higher levels of efficacy. There are, however, several practical limitations to first trimester and integrated screening. These include scheduling of testing within relatively narrow gestational age intervals, availability of appropriately trained ultrasonographers for NT measurement, risks associated with chorionic villus biopsy, and costs. There is also increasing evidence that an enlarged NT measurement is indicative of a high risk for spontaneous abortion and for fetal abnormalities that are not detectable by cytogenetic analysis. Women whose fetuses show enlarged NT, therefore, need first trimester counseling regarding their Down syndrome risks and the possibility of other adverse pregnancy outcomes. Follow-up ultrasound and fetal echocardiography in the second trimester are also indicated. First trimester

  18. Speech therapy in adolescents with Down syndrome: In pursuit of communication as a fundamental human right.

    Science.gov (United States)

    Rvachew, Susan; Folden, Marla

    2018-02-01

    The achievement of speech intelligibility by persons with Down syndrome facilitates their participation in society. Denial of speech therapy services by virtue of low cognitive skills is a violation of their fundamental human rights as proclaimed in the Universal Declaration of Human Rights in general and in Article 19 in particular. Here, we describe the differential response of an adolescent with Down syndrome to three speech therapy interventions and demonstrate the use of a single subject randomisation design to identify effective treatments for children with complex communication disorders. Over six weeks, 18 speech therapy sessions were provided with treatment conditions randomly assigned to targets and sessions within weeks, specifically comparing auditory-motor integration prepractice and phonological planning prepractice to a control condition that included no prepractice. All treatments involved high intensity practice of nonsense word targets paired with tangible referents. A measure of generalisation from taught words to untaught real words in phrases revealed superior learning in the auditory-motor integration condition. The intervention outcomes may serve to justify the provision of appropriate supports to persons with Down syndrome so that they may achieve their full potential to receive information and express themselves.

  19. How much do family physicians involve pregnant women in decisions about prenatal screening for Down syndrome?

    Science.gov (United States)

    Gagnon, Susie; Labrecque, Michel; Njoya, Merlin; Rousseau, François; St-Jacques, Sylvie; Légaré, France

    2010-02-01

    To assess the extent to which family physicians (FPs) involve women in decisions about prenatal screening for Down syndrome. Based on transcripts of consultations between 41 FPs and 128 women, two raters independently assessed clinician's efforts to involve women in decisions about prenatal screening for Down syndrome using the French-language version of OPTION. Descriptive statistics of OPTION scores were calculated. Construct validity was assessed by performing a principal factor analysis and by measuring association with consultation duration and FPs sociodemograhics. Internal consistency was assessed with Cronbach's alpha and inter-rater reliability with the intraclass correlation coefficient. The overall mean OPTION score was low: 19 +/- 7 (range = 0 [no involvement] to 100 [high involvement]). One factor accounted for 80% of the variance. Both internal consistency and inter-rater reliability were very good (Cronbach's alpha = 0.73; ICC = 0.76). OPTION scores were lower for residents than for licensed FPs (17 +/- 5 vs 21 +/- 4; p = 0.02) and were positively associated with duration of consultation (r = 0.56; p women in decisions about prenatal screening for Down syndrome. (c) 2009 John Wiley & Sons, Ltd.

  20. Identifying Facilitators and Barriers to Physical Activity for Adults with Down Syndrome

    Science.gov (United States)

    Mahy, J.; Shields, N.; Taylor, N. F.; Dodd, K. J.

    2010-01-01

    Background: Adults with Down syndrome are typically sedentary, and many do not participate in the recommended levels of physical activity per week. The aim of this study was to identify the facilitators and barriers to physical activity for this group. Method: Semi-structured interviews were conducted to elicit the views of adults with Down…