Journal of intellectual disability research : JIDR
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J Intellect Disabil Res · Mar 2012
Comparative StudySocial impairments in Rett syndrome: characteristics and relationship with clinical severity.
While behavioural abnormalities are fundamental features of Rett syndrome (RTT), few studies have examined the RTT behavioural phenotype. Most of these reports have focused on autistic features, linked to the early regressive phase of the disorder, and few studies have applied standardised behavioural measures. We used a battery of standardised measures of behaviour and functioning to test the following hypotheses: (1) autistic behaviour is prominent throughout childhood in RTT; (2) autistic features are more salient in individuals with milder presentation; (3) severity of autistic behaviour is associated with a wider range of behavioural problems; and (4) specific MECP2 mutations are linked to more severe autistic behaviour. ⋯ Our data suggest that in RTT, autistic behaviour persists after the period of regression. It also demonstrated that neurological and behavioural impairments, including autistic features, are relatively independent of one another. Consistent with previous reports of the RTT phenotype, individual MECP2 mutations demonstrate complex associations with autistic features. Evidence of persistent autistic behaviour throughout childhood, and of a link between hand function and social skills, has important implications not only for research on the RTT behavioural phenotype, but also for the clinical management of the disorder.
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J Intellect Disabil Res · Mar 2012
Comparative StudyMental health aspects of autistic spectrum disorders in children.
Previous studies have reported variable and at times opposite findings on comorbid psychiatric problems in children with autistic spectrum disorders (ASD). ⋯ High rates of clinically significant psychiatric problems were detected in ASD children, with anxiety and attention deficit hyperactivity disorder being the most frequently detected syndromes.