Social impairments in XXXX : characteristics and relationship with clinical severity.

@entity1 @entity146 @entity6694 @entity16 @entity2438 @entity8251 @entity72779 @entity69444 @entity38923
BACKGROUND: While behavioural abnormalities are fundamental features of @entity6694 ( @entity6694 ), few studies have examined the @entity6694 behavioural phenotype. Most of these reports have focused on @entity2438 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) @entity2438 is prominent throughout childhood in @entity6694 ; (2) @entity2438 features are more salient in individuals with milder presentation; (3) severity of @entity2438 is associated with a wider range of behavioural problems; and (4) specific @entity8251 mutations are linked to more severe @entity2438 . METHODS: Eighty @entity8251 mutation-positive @entity1 with @entity6694 (aged 1.6-14.9 years) were administered: (1) the Screen for Social Interaction (SSI), a measure of @entity2438 suited for individuals with severe communication and motor impairment; (2) the Rett Syndrome Behaviour Questionnaire (RSBQ), covering a wide range of abnormal behaviours in @entity6694 ; (3) the @entity146 ( @entity146 ); and (4) a modified version of the Rett Syndrome Severity Scale (RSSS). Regression analyses examined the predictive value of age and RSSS on @entity2438 and other behavioural abnormalities. T-tests further characterised the behavioural phenotype of individual @entity8251 mutations. RESULTS: While age had no significant effect on SSI or RSBQ total scores in @entity6694 , @entity146 Socialization and Composite scores decreased over time. Clinical severity (i.e. RSSS) also increased with age. Surprisingly, SSI performance was not related to either RSSS or @entity146 Composite scores. @entity2438 was weakly linked with the RSBQ Hand behaviour factor scores, but not with the RSBQ Fear/Anxiety factor. Clinical (neurological) severity did not predict RSBQ scores, as evidenced by the analysis of individual @entity8251 mutations (e.g. @entity72779 , @entity69444 and @entity38923 ). CONCLUSIONS: Our data suggest that in @entity6694 , @entity2438 persists after the period of regression. It also demonstrated that @entity16 , including @entity2438 features, are relatively independent of one another. Consistent with previous reports of the @entity6694 phenotype, individual @entity8251 mutations demonstrate complex associations with @entity2438 features. Evidence of persistent @entity2438 throughout childhood, and of a link between hand function and social skills, has important implications not only for research on the @entity6694 behavioural phenotype, but also for the clinical management of the disorder.
