Pubmed du 31/05/13

Pubmed du jour

2013-05-31 12:03:50

1. Cholemkery H, Kitzerow J, Rohrmann S, Freitag CM. {{Validity of the social responsiveness scale to differentiate between autism spectrum disorders and disruptive behaviour disorders}}. {Eur Child Adolesc Psychiatry};2013 (May 30)

Autism spectrum disorder (ASD) as well as oppositional defiant (ODD) and conduct disorder (CD) is characterised by difficulties in social interaction with peers. The Social Responsiveness Scale (SRS) measures reciprocal social behaviour in children and adolescents and was originally developed as a quantitative measure of autistic traits. In the present study, we compare parent-rated SRS scores in children with ODD, CD, and ASD and examine the diagnostic validity of the SRS alone and in combination with additional questionnaires to differentiate between groups. We hypothesize that the SRS better differentiates ASD and typically developing controls (TD) than ASD and the disruptive behaviour disorders ODD and CD. The sample consists of three clinical groups: ASD without comorbid intellectual delay (N = 55), ODD/CD (N = 55), and TD (N = 55), between 6 and 18 years. The groups were matched by age, sex, and IQ. SRS scores were compared for the three groups. Sensitivity and specificity of the SRS total and sub-scores were examined by receiver operating characteristics (ROC) analyses. Logistic regression analyses were calculated for estimating the rate of correctly specified individuals. The SRS differentiated excellently between ASD and TD (ROC-AUC = 1.00), but sensitivity and specificity were considerably lower when ASD was compared with ODD/CD (ROC-AUC = 0.82). A combination of three parent-rated questionnaires resulted in an improved validity to differentiate ASD and ODD/CD. For clinical screening purposes in children suspicious of ASD and/or ODD/CD, the SRS should be used in combination with additional disorder-specific questionnaires to improve the rate of correct classification of both disorders.

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2. Cook D, Nuro E, Murai KK. {{Increasing our understanding of human cognition through the study of Fragile X Syndrome}}. {Dev Neurobiol};2013 (May 31)

Fragile-X Syndrome (FXS) is considered the most common form of inherited intellectual disability. It is caused by reductions in the expression level or function of a single protein, the Fragile-X Mental Retardation Protein (FMRP), a translational regulator which binds to approximately 4% of brain messenger RNAs. Accumulating evidence suggests that FXS is a complex disorder of cognition, involving interactions between genetic and environmental influences, leading to difficulties in acquiring key life skills including motor skills, language and proper social behaviors. Since many FXS patients also present with one or more features of autism spectrum disorders (ASDs), insights gained from studying the monogenic basis of FXS could pave the way to a greater understanding of underlying features of multigenic ASDs. Here we present an overview of the FXS and FMRP field with the goal of demonstrating how loss of a single protein involved in translational control affects multiple stages of brain development and leads to debilitating consequences on human cognition. We also focus on studies which have rescued or improved FXS symptoms in mice using genetic or therapeutic approaches to reduce protein expression. We end with a brief description of how deficits in translational control are implicated in FXS and certain cases of ASDs, with many recent studies demonstrating that ASDs are likely caused by increases or decreases in the levels of certain key synaptic proteins. The study of FXS and its underlying single genetic cause offers an invaluable opportunity to study how a single gene influences brain development and behavior. (c) 2013 Wiley Periodicals, Inc. Develop Neurobiol, 2013.

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3. Tek S, Mesite L, Fein D, Naigles L. {{Longitudinal Analyses of Expressive Language Development Reveal Two Distinct Language Profiles Among Young Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (May 30)

Although children with Autism spectrum disorders (ASD) show significant variation in language skills, research on what type(s) of language profiles they demonstrate has been limited. Using growth-curve analyses, we investigated how different groups of young children with ASD show increases in the size of their lexicon, morpho-syntactic production as measured by Brown’s 14 grammatical morphemes, and wh-question complexity, compared to TD children, across six time points. Children with ASD who had higher verbal skills were comparable to TD children on most language measures, whereas the children with ASD who had low verbal skills had flatter trajectories in most language measures. Thus, two distinct language profiles emerged for children with ASD.

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