Alterações neuro-comportamentais na Distrofia muscular de Duchenne
Reino Unido – estudando 84 meninos com Duchenne os autores encontraram 14 com deficit de aprendizagem e 41 com scores que permitiriam o diagnóstico de autismo. Déficit de atenção e hiperatividade (TDAH), traços de conduta e problemas emocionais também foram descritos. No geral, uma maior proporção de rapazes afetados tinham mutações no sentido da extremidade 3 ‘da distrofina. As auterações encontradas foram maiores que na população em geral e os autores sugerem acompanhamento neuro-comportamental na distrofia muscular de Duchenne.
O resumo em inglês pode ser lido abaixo:
Developmental Medicine & Child Neurology, 2013) Neurobehavioural disorders in Duchenne muscular dystrophy
V.RICOTTI, M. SCOTO,WPL MANDY, KENTWISTLE, SAROBB,,E MERCURI, DH SKUSE, F MUNTONI – UK
Background: Variable neurobehavioural disorders and intelligence quotient (IQ) one SD below average are recognised comorbidities in Duchenne muscular dystrophy (DMD), reflecting the disrupted expression of different length dystrophin isoforms in the brain, based on the site of the dystrophin gene mutation. Objective: Our objective was to assess the neurobehavioural profile of DMD and its relation to genotype. Methods: Following a screening of 84 DMD boys with validated questionnaires, we previously reported 15 with severe learning disability and 41 with scores predictive of autistic spectrum disorder (ASD). Attention deficit and hyperactivity disorder (ADHD) traits, conduct and emotional problems were also described. Overall, a higher proportion of boys affected had mutations towards the 3’ end of dystrophin. We performed targeted neuropsychological assessments including: Wechsler Intelligence Scale for Children-IV (WISC-IV), Developmental Dimensional and Diagnostic Interview (3Di), Conners-3 Questionnaires, Child Behaviour Checklist (CBCL).Results: We found marked unevenness of performance on the WISC-IV. Eight out of 12 boys had significant difference between verbal comprehension (VCI) and perceptual reasoning (PRI), with VCI more compromised. Eight out of 19 met criteria for ASD on the 3Di. In five boys with ASD the CBCL showed higher scores for internalising and externalising difficulties compared to non-ASD. There were associations between lower IQ and autistic social communication difficulties. On the Conners 6/17 boys met criteria for hyperactivity and 7 for inattention problems. There was a strong association between ASD and severe ADHD symptoms of hyperactivity (OR=22.5) and inattention (OR=54). There was a trend towards children with mutations towards the 3’ end of the gene, having a greater chance of ASD (OR=3.4). Conclusions: In our on-going study, we confirmed ASD prevalence rates and other neurobehavioural disorders much higher in DMD than the general population. Children with DMD should be provided with neurobehavioural-targeted support.
