Expressive language in male adolescents with fragile X syndrome with and without comorbid autism
Conclusions These findings contribute to existing research on the behavioural profiles of individuals with FXS or FXS with autism who have low cognitive abilities. Although individuals with comorbid FXS and autism may be, as a group, more impaired than those with only FXS, data from this small sample of males with comorbid FXS and autism with low IQs suggest that their relative strengths and weaknesses in spontaneous expressive language are largely comparable and not differentially affected by the context in which their talk occurs. (Source: Journal of Intellectual Disability Research)...
POSTED 02/07/2010 at 06:00 PM --
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Walking Economy of Adults with Down Syndrome
In conclusion, lower WE in individuals with DS is mainly related to their inability to adapt efficiently to positive variations in walking speed.[...]© Georg Thieme Verlag KG Stuttgart · New YorkGet connected:Table of contents | Abstract | Full text (Source: International Journal of Sports Medicine)...
POSTED 02/05/2010 at 09:44 AM --
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Erratum to: Familial small supernumerary marker chromosome (sSMC) (14) (:p11-q11:) in a child with translocation down syndrome
Content Type Journal ArticleCategory ErratumDOI 10.1007/s12098-010-0004-6Authors
Babu Rao VundintiSeema KorgoankarKanjaksha Ghosh
Journal Indian Journal of PediatricsOnline ISSN 0973-7693Print ISSN 0019-5456
Journal Volume Volume 77
Journal Issue Volume 77, Number 1 / January, 2010 (Source: Indian Journal of Pediatrics)...
POSTED 02/05/2010 at 01:36 AM --
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Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group
We report gene expression and other analyses to elucidate the molecular characteristics of acute lymphoblastic leukemia (ALL) in children with Down syndrome (DS). We find that by gene expression DS-ALL is a highly heterogeneous disease not definable as a unique entity. Nevertheless, 62% (33/53) of the DS-ALL samples analyzed were characterized by high expression of the type I cytokine receptor CRLF2 caused by either immunoglobulin heavy locus (IgH@) translocations or by interstitial deletions creating chimeric transcripts P2RY8-CRLF2. In 3 of these 33 patients, a novel activating somatic mutation, F232C in CRLF2, was identified. Consistent with our previous research, mutations in R683 of JAK2 were identified in 10 specimens (19% of the patients) and, interestingly, all 10 had high CRLF2 ex......
POSTED 02/04/2010 at 11:01 AM --
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PathGen: a transitive gene pathway generator
Summary: Many online sources of gene interaction networks supply rich visual data regarding gene pathways that can aid in the study of biological processes, disease research and drug discovery. PathGen incorporates data from several sources to create transitive connections that span multiple gene interaction databases. Results are displayed in a comprehensible graphical format, showing gene interaction type and strength, database source and microarray expression data. These features make PathGen a valuable tool for in silico discovery of novel gene interaction pathways, which can be experimentally tested and verified. The usefulness of PathGen interaction analyses was validated using genes connected to the altered facial development related to Down syndrome.
Availability: http://dna.cs.byu......
POSTED 02/02/2010 at 09:38 AM --
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Screening athletes with Down syndrome for ocular disease
Conclusion: 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 for screening in this population. The better sensitivity and specificity of the CVA, if adjusted normative values are utilized, appear to make this test sufficient for testing Down syndrome children for identifying both refractive errors and ocular pathology. (Source: Optometry - Journal of the American Optometric Association)...
POSTED 01/31/2010 at 06:00 PM --
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Pragmatic ability and Down's Syndrome
CONCLUSION: the verbal and gestural communication means and the comment and narrative functions were the most used among the participants; mothers were responsible for just 10% of the communication direction and it was carried out predominantly by the children and adolescents that took part in the study. (Source: Revista CEFAC)...
POSTED 01/30/2010 at 09:58 AM --
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Extent of postcode lottery for Down's Syndrome tests revealed
Thousands of pregnant women face are being given misleading screening results
for Down's syndrome by hospitals using outdated methods. Here is a full list
of the tests used by hospitals in England. (Source: Telegraph Health)...
POSTED 01/30/2010 at 06:55 AM --
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Trisomy 18 and 13 screening: consequences for the Dutch Down syndrome screening programme
No Abstract. (Source: Prenatal Diagnosis)...
POSTED 01/28/2010 at 06:00 PM --
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Acute Leukemias in Children with Down Syndrome
Children with Down syndrome have an increased risk for developing both acute myeloid as well as lymphoblastic leukemia. These leukemias differ in presenting characteristics and underlying biology when compared with leukemias occurring in non-Down syndrome children. Myeloid leukemia in children with Down syndrome is preceded by a preleukemic clone (transient leukemia or transient myeloproliferative disorder), which may disappear spontaneously, but may also need treatment in case of severe symptoms. Twenty percent of children with transient leukemia subsequently develop myeloid leukemia. This transition offers a unique model to study the stepwise development of leukemia and of gene dosage effects mediated by aneuploidy. (Source: Hematology/Oncology Clinics of North America)...
POSTED 01/28/2010 at 07:45 AM --
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Early Menopause Can Result In Earlier Onset Dementia
Women experiencing an early onset of menopause could develop dementia at a younger age. Research by Tonnie Coppus of Erasmus MC has indicated this. She studied women with Down Syndrome, who are known to have an early onset of menopause. The results of her research can be translated to apply to the general population. Her results are published in the Journal of Alzheimer Disease. Women with Down Syndrome have an earlier onset of menopause compared to women in the general population, 44 years of age and 52 years of age, respectively... (Source: Health News from Medical News Today)...
POSTED 01/28/2010 at 07:00 AM --
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Early Menopause Can Result In Earlier Onset Dementia
Women experiencing an early onset of menopause could develop dementia at a younger age. Research by Tonnie Coppus of Erasmus MC has indicated this. She studied women with Down Syndrome, who are known to have an early onset of menopause. The results of her research can be translated to apply to the general population. Her results are published in the Journal of Alzheimer Disease... (Source: Alzheimer's / Dementia News From Medical News Today)...
POSTED 01/28/2010 at 07:00 AM --
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Early menopause can result in earlier onset dementia
(IOS Press) Women experiencing an early onset of menopause could develop dementia at a younger age. Research by Tonnie Coppus of Erasmus MC has indicated this. She studied women with Down Syndrome, who are known to have an early onset of menopause. The results of her research can be translated to apply to the general population. Her results will be published in the Journal of Alzheimer Disease today. (Source: EurekAlert! - Social and Behavioral Science)...
POSTED 01/26/2010 at 11:00 PM --
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A rare case of GATA1 negative chemoresistant acute megakaryocytic leukemia in an 8-month-old infant with trisomy 21
We describe an 8-month-old male with DS who was diagnosed with AMKL without a mutation in the GATA1 gene. The patient was treated according to the DS-AML-regimen but his disease progressed and he succumbed 9 months later. This rare case of DS AMKL without a GATA1 mutation with an unfavorable outcome suggests that GATA1 testing may play a useful role in initial stratification. Pediatr Blood Cancer. © 2010 Wiley-Liss, Inc. (Source: Pediatric Blood and Cancer)...
POSTED 01/26/2010 at 06:00 PM --
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Alzheimer's-related endosome dysfunction in Down syndrome is A{beta}-independent but requires APP and is reversed by BACE-1 inhibition [Neuroscience]
An additional copy of the β-amyloid precursor protein (APP) gene causes early-onset Alzheimer’s disease (AD) in trisomy 21 (DS). Endosome... (Source: Proceedings of the National Academy of Sciences)...
POSTED 01/26/2010 at 05:48 PM --
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The underreported pediatric stories of last year
Children’s Judith Palfrey, MD, FAAP, president of the American Academy of Pediatrics writes about the most urgent children’s health stories that were neglected by the media last year:
This past year, the newspapers and blogs were full of stories about H1N1, obesity, autism and health care reform. These are all important and newsworthy topics, but there are other stories that are perhaps less flashy, but nonetheless have worth on their own merit.
As far as I am concerned, one of the biggest of these is the story of our adolescents and young adults with chronic conditions and disabilities. Quietly and without fanfare, as a result of the great innovations of medicine and surgery, the numbers of adolescents and young adults with significant health problems has been rising in the United......
POSTED 01/26/2010 at 02:18 PM --
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Late effects of early growth hormone treatment in Down syndrome
Conclusion: The combined finding of a greater head circumference SDS and better psychomotor performance indicates that DS subjects may benefit from early GH treatment. (Source: Acta Paediatrica)...
POSTED 01/24/2010 at 06:00 PM --
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Londvida Dosage and Cost
Longvida is the most bioavailable form of curcumin, an powerful antioxidant with experimental evidence decreasing amyloid plaques. (Source: Riverbend Down Syndrome Parent Support Group)...
POSTED 01/23/2010 at 07:30 PM --
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Londvida Abstracts
Longvida journal abstracts. (Source: Riverbend Down Syndrome Parent Support Group)...
POSTED 01/23/2010 at 07:30 PM --
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Adherence to treatment post genetic counseling in Down Syndrome
This study evaluated the effect of genetic counseling on the adherence behavior of parents to stimulation therapy, the factors that influence access to genetic counseling and to treatment and the satisfaction supplied by counseling. The parents of 12 individuals participated in this study using routine semi-structured interviews at three stages: before counseling, after counseling and follow-up. In spite of the difficulties to access genetic counseling and treatment, most parents were satisfied with the service. This process significantly influenced the adherence to treatment as, probably, the guidance was responsible for changes in behavior. Well-defined rules, useful in Down syndrome, promoted behavioral changes. Rules function as a discriminative stimulus for parents to adherence to the......
POSTED 01/23/2010 at 09:01 AM --
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