1. Celle ME, Cuoco C, Porta S, Gimelli G, Tassano E. {{Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures}}. {Gene};2013 (Dec 15);532(2):294-296.
Mutations in neuronal voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A may play an important role in the etiology of neurological diseases and psychiatric disorders, besides various types of epilepsy. Here we describe a 3-year-old boy with autistic features, language delay, microcephaly and no history of seizures. Array-CGH analysis revealed an interstitial deletion of ~291.9kB at band 2q24.3 disrupting the entire SCN2A gene and part of SCN3A. We discuss the effects of haploinsufficiency of SCN2A and SCN3A on the genetic basis of neurodevelopmental and neurobehavioral disorders and we propose that this haploinsufficiency may be associated not only with epilepsy, but also with autistic features.
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2. Hagberg BS, Nyden A, Cederlund M, Gillberg C. {{Asperger syndrome and « non-verbal learning problems » in a longitudinal perspective: neuropsychological and social adaptive outcome in early adult life}}. {Psychiatry Res};2013 (Dec 15);210(2):553-558.
Co-existence of Asperger syndrome (AS) and non-verbal learning disability (NLD) has been proposed based on the observation that people with AS tend to have significantly higher verbal than performance IQ (VIQ > PIQ by >/= 15 points), one of the core features of NLD. In the present study we examined neuropsychological and social adaptive profiles with « non-verbal learning problems » associated with NLD in a group of individuals with AS followed from childhood into early adult life. The group was divided into three subgroups: (i) persistent NLD (P-NLD), i.e. NLD (VIQ > PIQ) both in childhood and early adulthood occasions, (ii) childhood NLD (CO-NLD), i.e. NLD (VIQ > PIQ) only at original diagnosis, or (iii) No NLD (VIQ > PIQ) ever (NO-NLD). All three subgroups were followed prospectively from childhood into adolescence and young adult life. One in four to one in five of the whole group of males with AS had P-NLD. The P-NLD subgroup had poorer neuropsychological outcome in early adult life than did those with CO-NLD and those with NO-NLD. There were no unequivocal markers in early childhood that predicted subgroup status in early adult life, but early motor delay and a history of early speech-language problems tended to be associated with P-NLD.
