Pubmed du 18/04/09

lundi 20 avril 2009

1. Dawson S, Glasson EJ, Dixon G, Bower C. Birth Defects in Children With Autism Spectrum Disorders : A Population-based, Nested Case-Control Study. Am J Epidemiol ;2009 (Apr 16)

The causes of autism spectrum disorders (ASDs) are unknown, although genetic and environmental influences have been implicated. Previous studies have suggested an association with birth defects, but most investigators have not addressed associations with specific diagnostic categories of ASD. In this study, the authors investigated the associations between birth defects and autism, Asperger syndrome, and pervasive developmental disorder not otherwise specified. Using Western Australian population-based linked data, the authors compared all children with ASD born in Western Australia during 1980-1995 (n = 465) with their siblings (n = 481) and population controls (n = 1,313) in a nested case-control study. The prevalence of birth defects was significantly higher in ASD cases than in population controls ; this difference remained significant after adjustment for confounding factors. Odds ratios for birth defects were similar for autism (odds ratio (OR) = 2.0, 95% confidence interval (CI) : 1.3, 3.0) and pervasive developmental disorder not otherwise specified (OR = 2.2, 95% CI : 1.1, 4.3) but not for Asperger syndrome (OR = 0.5, 95% CI : 0.1, 1.9). Birth defects in case siblings were not significantly different from those in cases and population controls. The association between birth defects and ASD may be due to underlying genetic and/or environmental factors common to both ASD and birth defects, or birth defects may predispose a child to ASD.

2. Dworzynski K, Happe F, Bolton P, Ronald A. Relationship Between Symptom Domains in Autism Spectrum Disorders : A Population Based Twin Study. J Autism Dev Disord ;2009 (Apr 17)

3. Khajuria R, Sapra S, Ghosh M, Gupta N, Gulati S, Kalra V, Kabra M. Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method : report of two classical Rett syndrome patients of Indian origin. Genet Test Mol Biomarkers ;2009 (Apr) ;13(2):277-280.

Rett syndrome (RS) is an X-linked dominant neurodevelopment disorder with normal prenatal and postnatal development till 6-18 months, followed by stagnation and regression of acquired skills. RS primarily manifests in females, and there are a few reports with males having RS. Sporadic or de novo mutations of the methyl CpG binding protein 2 (MECP2) gene have been reported in 70-90% of affected girls. Conventional methods such as fluorescence in situ hybridization, real-time PCR, southern blotting, multiplex ligation-dependent probe amplification, and DNA sequencing have been previously reported for the detection of insertions or deletions in the MECP2 gene. Here, we report detection of two deletions of 44 bp (c.1157_1200del44 or p.L386fs) and 38 bp (c.1151_1188del38 or p.P384fs) in exon 4 or C-terminal segment (CTS) region of MECP2 using a simple PCR technique that is rapid, accurate, and cost effective as compared to other techniques. The deletions were detected by routine PCR amplification followed by 2% agarose gel electrophoresis. We suggest that a simple PCR can easily detect deletions in the hotspot CTS region of the MECP2 gene and can be used for routine molecular diagnostics of RS.

4. Pickett E, Pullara O, O’Grady J, Gordon B. Speech acquisition in older nonverbal individuals with autism : a review of features, methods, and prognosis. Cogn Behav Neurol ;2009 (Mar) ;22(1):1-21.

Individuals with autism often fail to develop useful speech. If they have not done so by age 5, the prognosis for future development has been thought to be poor. However, some cases of later development of speech have been reported. To quantify and document the nature of later speech development and the factors that might be important for prognosis, we reviewed the extant literature. We searched both manually and electronically, examining all literature with at least an English-language abstract, through March 2008. The search identified a total of 167 individuals with autism who reportedly acquired speech at age 5 or older. Most of the cases of reported late speech development occurred in the younger age groups ; no case older than 13 was reported. Behavioral modification was the most frequently reported training program used, although there was a wide range of interventions reported to be associated with late speech development. Given the underreporting of such cases in the literature, and the likelihood that more intensive and more focused training might be more successful, the prognosis for late development of speech in such individuals may now be better than was historically thought to be the case.


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