Pubmed du 30/05/09

jeudi 4 juin 2009

1. Rare diseases offer insights into autism spectrum disorders. Preliminary laboratory studies suggest new biological targets for intervention. Harv Ment Health Lett ;2009 (Apr) ;25(10):3.

2. Ager S, Downs J, Fyfe S, Leonard H. Parental experiences of scoliosis management in Rett syndrome. Disabil Rehabil ;2009 (May 19):1-8.

Background. Scoliosis is the most common orthopaedic complication of Rett syndrome. Parents of affected individuals are vital partners in the clinical management of scoliosis and this study explored parental experiences of various aspects of different management options. Methods. Publicly available Rettnet postings informed the development of an online questionnaire about scoliosis and its management in Rett syndrome. Parents of subjects who met the criteria for Rett syndrome participated in a survey using this questionnaire. Results. One hundred and eighty families participated in this study with scoliosis having developed in 135 (75.4%) of subjects. Eighty-four (62.2% of subjects with scoliosis) had received specific treatment for scoliosis while 51 (37.8%) had not. Surgery was perceived as improving the scoliosis in the majority of subjects but had considerable emotional effects for families of subjects who were less severely affected (p = 0.055) or older (p = 0.063). Physiotherapy and bracing were perceived as not reducing the progression of the curve, but physiotherapy was frequently reported to be beneficial to the subject’s quality of life and bracing was frequently associated with side effects such as decreased mobility and problems with pressure. Only half of respondents felt that information about scoliosis provided by clinicians was adequate. Conclusions. The perspectives of parents provided useful insights into the complexities of decision-making regarding scoliosis treatment in Rett syndrome. The provision of scoliosis information by clinicians should be more family-centred.

3. Baron-Cohen S, Scott FJ, Allison C, Williams J, Bolton P, Matthews FE, Brayne C. Prevalence of autism-spectrum conditions : UK school-based population study. Br J Psychiatry ;2009 (Jun) ;194(6):500-509.

BACKGROUND : Recent reports estimate the prevalence of autism-spectrum conditions in the UK to be 1%. AIMS : To use different methods to estimate the prevalence of autism-spectrum conditions, including previously undiagnosed cases, in Cambridgeshire. METHOD : We carried out a survey of autism-spectrum conditions using the Special Educational Needs (SEN) register. A diagnosis survey was distributed to participating schools to be handed out to parents of all children aged 5-9 years. The mainstream primary school population was screened for unknown cases. RESULTS : The prevalence estimates generated from the SEN register and diagnosis survey were 94 per 10 000 and 99 per 10 000 respectively. A total of 11 children received a research diagnosis of an autism-spectrum condition following screening and assessment. The ratio of known:unknown cases is about 3:2 (following statistical weighting procedures). Taken together, we estimate the prevalence to be 157 per 10 000, including previously undiagnosed cases. CONCLUSIONS : This study has implications for planning diagnostic, social and health services.

4. Bill BR, Geschwind DH. Genetic advances in autism : heterogeneity and convergence on shared pathways. Curr Opin Genet Dev ;2009 (May 26)

The autism spectrum disorders (ASD) are a heterogeneous set of developmental disorders characterized at their core by deficits in social interaction and communication. Current psychiatric nosology groups this broad set of disorders with strong genetic liability and multiple etiologies into the same diagnostic category. This heterogeneity has challenged genetic analyses. But shared patient resources, genomic technologies, more refined phenotypes, and novel computational approaches have begun to yield dividends in defining the genetic mechanisms at work. Over the last five years, a large number of autism susceptibility loci have emerged, redefining our notion of autism’s etiologies, and reframing how we think about ASD.

5. Grether JK, Rosen NJ, Smith KS, Croen LA. Investigation of Shifts in Autism Reporting in the California Department of Developmental Services. J Autism Dev Disord ;2009 (May 29)

We investigated if shifts in the coding of qualifying conditions in the California Department of Developmental Services (DDS) have contributed to the increase in California children with autism observed in recent years. Qualifying condition codes for mental retardation (MR) and autism in DDS electronic files were compared to hard-copy records for samples of children born 1987, 1990, 1994, and 1997. Contrary to expectations, we did not find evidence of a coding shift from "MR only" to "both MR and autism" or an increase in the proportion of children with coded autism who lacked supportive diagnostic documentation in records (possible "misclassifications"). These results indicate that changes in DDS coding practices are unlikely to explain the increase in DDS clients with autism.

6. Gross L. A broken trust : lessons from the vaccine—autism wars. PLoS Biol ;2009 (May 26) ;7(5):e1000114.


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