Social impairments in Rett syndrome: characteristics and relationship with clinical severity.
In Rett syndrome, autistic-like social problems stay fixed while other skills slip.
01Research in Context
What this study did
Meier et al. (2012) looked at girls with Rett syndrome after the big regression. They asked: do the social and autistic-like signs stay the same, get worse, or link to overall disease severity?
They used standard autism and adaptive-living checklists. They tested each child once and compared scores.
What they found
The autistic behaviors stayed flat. Daily living skills kept dropping. The two patterns did not move together.
In plain words: social quirks stick around, but they do not predict how sick the child will look overall.
How this fits with other research
Wilson et al. (2014) saw the same steady picture in regular autism. Restricted and repetitive behaviors stayed put while other skills changed.
Van Hanegem et al. (2014) also mapped four stable autism severity tracks in typical ASD kids. Again, scores barely budged year to year.
Fabio et al. (2014) zoomed in on exact gene mutations in Rett. They showed that some mutations hit social skills harder than motor skills. The 2012 study adds the proof that these social scores stay flat no matter the mutation.
Why it matters
If you work with Rett syndrome, do not wait for social skills to rebound after regression. Plan for long-term social support. Target adaptive living goals instead of hoping social scores will rise with general health. Use peer-mediated or video-modeling methods that work for steady social deficits. Track adaptive data, not autism severity, to judge real day-to-day progress.
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02At a glance
03Original abstract
BACKGROUND: 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. METHODS: Eighty MECP2 mutation-positive girls with RTT (aged 1.6-14.9 years) were administered: (1) the Screen for Social Interaction (SSI), a measure of autistic behaviour suited for individuals with severe communication and motor impairment; (2) the Rett Syndrome Behaviour Questionnaire (RSBQ), covering a wide range of abnormal behaviours in RTT; (3) the Vineland Adaptive Behavior Scales (VABS); and (4) a modified version of the Rett Syndrome Severity Scale (RSSS). Regression analyses examined the predictive value of age and RSSS on autistic behaviour and other behavioural abnormalities. T-tests further characterised the behavioural phenotype of individual MECP2 mutations. RESULTS: While age had no significant effect on SSI or RSBQ total scores in RTT, VABS 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 VABS Composite scores. Autistic behaviour 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 MECP2 mutations (e.g. p.R106W, p.R270X and p.R294X). CONCLUSIONS: 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.
Journal of intellectual disability research : JIDR, 2012 · doi:10.1111/j.1365-2788.2011.01404.x