Pubmed du 02/01/13

Pubmed du jour

2013-01-02 12:03:50

1. Davis TN, Dacus S, Strickland E, Copeland D, Chan JM, Blenden K, Scalzo R, Osborn S, Wells K, Christian K. {{The effects of a weighted vest on aggressive and self-injurious behavior in a child with autism}}. {Developmental neurorehabilitation}. 2013 Jan 2.

Objective: Analyse the effects of a weighted vest on the aggressive and self-injurious behavior of a young boy with autism. Methods: The effects of the weighted vest were examined during a functional analysis utilizing an ABAB design with an embedded multielement design, in which the participant wore a five pound weighted vest or no vest. Results: The results do not suggest the existence of a functional relationship between the use of a weighted vest and challenging behavior, as the weighted vest had no marked effect on levels of aggression and self-injurious behavior. Conclusions: Weighted vests are a commonly implemented form of sensory integration therapy, frequently used as a treatment for disruptive behaviors associated with autism spectrum disorder [Stephenson J, Carter M. The use of weighted vests with children with autism spectrum disorders and other disabilities. Journal of Autism and Developmental Disabilities 2009;39:105-114]. However, the current findings support previous literature which states that the use of weighted vests does not appear to decrease challenging behavior.

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2. Knaus TA, Tager-Flusberg H, Mock J, Dauterive R, Foundas AL. {{Prefrontal and occipital asymmetry and volume in boys with autism spectrum disorder}}. {Cogn Behav Neurol}. 2012 Dec;25(4):186-94.

OBJECTIVE: : To examine prefrontal and occipital asymmetry (brain torque) in boys with autism spectrum disorder (ASD) and controls. A secondary aim was to study age-related changes in gray and white matter volume. BACKGROUND: : Several studies have found atypical early cortical development in ASD. Atypical brain torque, defined as a greater-than-normal left prefrontal and right occipital asymmetry, has been found in some studies of children and adults with ASD. This configuration may be an early neural marker of ASD risk. METHODS: : We studied 24 right-handed boys with ASD and 27 typically developing right-handed boys, 7 to 15 years old, obtaining neuropsychological profiles and measuring prefrontal and occipital volumes on magnetic resonance images. RESULTS: : Most participants had the expected rightward prefrontal and leftward occipital asymmetry, with no group differences in direction or degree of asymmetry. We found a trend toward larger prefrontal volume in the ASD group than in the controls. The controls also had a trend toward differences in age associations, correlating with total and left prefrontal white matter volumes. CONCLUSIONS: : Our findings suggest that atypical brain torque may not be a neural signature of ASD, although our sample was limited to high-functioning, right-handed boys. Our results provide support for aberrant cortical development in ASD, continuing into adolescence, with prefrontal regions being disproportionally affected.

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3. Sorte HS, Gjevik E, Sponheim E, Eiklid KL, Rodningen OK. {{Copy number variation findings among 50 children and adolescents with autism spectrum disorder}}. {Psychiatric genetics}. 2012 Dec 30.

OBJECTIVES: Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopment disorders with a complex genetic aetiology. The aim of this study was to identify copy number variations (CNVs) with a clinical significance for ASD. MATERIALS AND METHODS: Array-based comparative genomic hybridization was applied to detect CNVs in a clinically well-characterized population of 50 children and adolescents with ASD. RESULTS: Nine CNVs with predicted clinical significance were identified among eight individuals (detection rate 16%). Three of the CNVs are recurrently associated with ASDs (15q11.2q13.1) or have been identified in ASD populations (3p14.2 and t(8;12)(p23.1;p13.31)). The remaining regions (15q11.2, 10q21.1, Xp22.2, 16p13.3 and 22q13.1) have not been reported previously as candidate genes for ASD. CONCLUSION: This study identified five novel CNVs among the individuals. The causal relationship between identified CNVs and the ASD phenotype is not fully established. However, the genes involved are associated with ASD and/or other neuropsychiatric disorders, or implicated in synaptic and neuronal activity, thus suggesting clinical significance. Further identification of ASD-associated CNVs is required, together with a broad clinical characterization of affected individuals to identify genotype-phenotype correlations.

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4. Toma C, Hervas A, Torrico B, Balmana N, Salgado M, Maristany M, Vilella E, Martinez-Leal R, Planelles MI, Cusco I, Del Campo M, Perez-Jurado LA, Caballero-Andaluz R, de Diego-Otero Y, Perez-Costillas L, Ramos-Quiroga JA, Ribases M, Bayes M, Cormand B. {{Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2}}. {Psychiatric genetics}. 2012 Dec 30.

Impairment of language abilities is a common feature in autistic individuals. Heterozygous mutations in the Forkhead Box P2 (FOXP2) gene lead to a severe spoken language disorder. Recently, several studies have pinpointed the involvement of common variants of the Contactin-Associated Protein-Like 2 (CNTNAP2) gene, whose transcription is regulated by the product of FOXP2, in several disorders characterized by language impairments such as autism, specific language impairment (SLI), and selective mutism (SM). In the present study, common variants of the FOXP2 and the CNTNAP2 genes were analyzed through a case-control association study in 322 Spanish autistic patients and 524 controls. The results of this study suggest that common variants of FOXP2 are unlikely to contribute to autism susceptibility, in agreement with previous findings. Furthermore, we failed to replicate in our sample a previous association finding of two single nucleotide polymorphisms (rs2710102 and rs7794745) in the CNTNAP2 gene with autism. No evidence for the association of these genes with language traits was observed in our analysis.

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