Pubmed du 07/04/11

Pubmed du jour

2011-04-07 12:03:50

1. Daniels AM, Rosenberg RE, Anderson C, Law JK, Marvin AR, Law PA. {{Verification of Parent-Report of Child Autism Spectrum Disorder Diagnosis to a Web-Based Autism Registry}}. {J Autism Dev Disord};2011 (Apr 6)

Growing interest in autism spectrum disorder (ASD) research requires increasingly large samples to uncover epidemiologic trends; such a large dataset is available in a national, web-based autism registry, the Interactive Autism Network (IAN). The objective of this study was to verify parent-report of professional ASD diagnosis to the registry’s database via a medical record review on a sample of IAN Research participants. Sixty-one percent of families agreed to participate; 98% (n = 116) of whom provided documentation verifying a professionally diagnosed ASD. Results of this study suggest that information collected from parents participating in IAN Research is valid, participants can be authenticated, and that scientists can both confidently use IAN data and recruit participants for autism research.

2. Eldevik S, Hastings RP, Jahr E, Hughes JC. {{Outcomes of Behavioral Intervention for Children with Autism in Mainstream Pre-School Settings}}. {J Autism Dev Disord};2011 (Apr 7)

We evaluated outcomes for 31 children with autism (2-6 years of age at intake) who received behavioral intervention in mainstream pre-school settings and a comparison group of 12 children receiving treatment as usual. After 2 years, children receiving behavioral intervention had higher IQ scores (Hedges g = 1.03 (95% CI = .34, 1.72) and adaptive behavior composite scores (Hedges g = .73 (95% CI = .05, 1.36). Despite probably fewer intervention hours, these group level outcomes were comparable to studies providing more intensive intervention. Individual child data also showed positive results with 19.4% achieving change at a reliable level for IQ; but a lower percentage than found in recent meta-analysis research. Strengths and weaknesses of the mainstream pre-school delivery model are discussed.

3. Klauck SM, Poustka L, Chiocchetti A. {{[Genetics and animal modeling of autism spectrum disorders : New developments.]}}. {Nervenarzt};2011 (Apr 7)

Autism spectrum disorders (ASD) are pervasive developmental disorders with a complex phenotype in respect to communication, verbal development, and social behavior. Manifold molecular genetic analyses point towards a multifactorial genetic predisposition. For the identification of central key mechanisms large consortia have performed linkage analysis, genome-wide association, and copy number variation (CNV) studies, which led to the characterization of risk factors for ASD like CNV and single nucleotide polymorphisms but also single rare mutations. The so far associated genomic regions and candidate genes impact neuronal development especially the establishment of the synaptic cleft, secretion of surface proteins, or dendritic translation. These findings point towards deficits of translation-dependent cell-cell connectivity and synaptic plasticity for ASD. Animal models are relevant to analyze the pathomechanisms of single genetic risk variants at the cellular, tissue-specific, and behavioral levels.

4. Mostofsky SH, Ewen JB. {{Altered Connectivity and Action Model Formation in Autism Is Autism}}. {Neuroscientist};2011 (Apr 5)

Internal action models refer to sensory-motor programs that form the brain basis for a wide range of skilled behavior and for understanding others’ actions. Development of these action models, particularly those reliant on visual cues from the external world, depends on connectivity between distant brain regions. Studies of children with autism reveal anomalous patterns of motor learning and impaired execution of skilled motor gestures. These findings robustly correlate with measures of social and communicative function, suggesting that anomalous action model formation may contribute to impaired development of social and communicative (as well as motor) capacity in autism. Examination of the pattern of behavioral findings, as well as convergent data from neuroimaging techniques, further suggests that autism-associated action model formation may be related to abnormalities in neural connectivity, particularly decreased function of long-range connections. This line of study can lead to important advances in understanding the neural basis of autism and, more critically, can be used to guide effective therapies targeted at improving social, communicative, and motor function.

5. Murphy JF. {{Fallout of the enterocolitis, autism, MMR vaccine paper}}. {Ir Med J};2011 (Feb);104(2):36.

6. Nemeth D, Janacsek K. {{Are children with autism good or bad learners?}}. {Proc Natl Acad Sci U S A};2011 (Apr 5)

7. Ruiz Calzada L, Pistrang N, Mandy WP. {{High-Functioning Autism and Asperger’s Disorder: Utility and Meaning for Families}}. {J Autism Dev Disord};2011 (Apr 7)

We used framework analysis to investigate the utility of pervasive developmental disorder diagnoses, interviewing young people (aged 9-16 years) with high-functioning autistic disorder (AD) and Asperger’s disorder (AsD), and their parents. Twenty two participants from ten families described both gains and costs resulting from diagnosis. Perceived advantages of AD and AsD diagnosis were increased understanding and practical support, and parental empowerment. Disadvantages included the effects of stigma and concerns about validity. Participants tended to consider AsD and AD as interchangeable terms. Findings suggest that the utility of AD and AsD depends upon both their validity and how these diagnoses are received in their cultural, economic and legislative context. Improvement of post-diagnostic services will improve the utility of AD and AsD.