期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 149A, 期 3, 页码 387-395出版社
WILEY
DOI: 10.1002/ajmg.a.32690
关键词
cognition; neuropsychology; test of everyday attention for children (TEA-Ch); dual tasking
资金
- Tuberous Sclerosis Association (UK)
Tuberous sclerosis complex (TSC) (OMIM191100) is a genetic disorder with multi-system involvement including neurodevelopmental manifestations. There is great interest in understanding the pathogenetic mechanisms underlying these neurobehavioral and neurocognitive manifestations. However, there are still significant gaps in knowledge about the exact neuropsychiatric phenotypes observed in TSC. Here we report on the first systematic evaluation of neuropsychological attentional skills in a population-derived sample of children and adolescents with TSC. The study showed that, even when age, gender, IQ, and intra-familial clustering were controlled for, the TSC group had significantly lower scores than their unaffected siblings on a range of neuropsychological attentional tasks, and that they had significantly more neuropsychological attention deficits. Eighteen of the 20 children (90%) showed deficits on one or more attentional tasks, with dual task performance most consistently impaired (85%) and visual selective attention a relative strength. Active seizures and anti-epilepsy medication did not influence attentional profiles. Furthermore, parent rating of attention-related behaviors were not able to identify children at risk of neuropsychological deficits. The findings suggest that clinical neuropsychological evaluation of attentional skills should be performed in children and adolescents with TSC even when they have normal global intellectual abilities, no seizures, and no disruptive behaviors. Results suggest that the mechanisms underlying these deficits may include contributions from structural, seizure-related and molecular factors. (C) 2009 Wiley-Liss, Inc.
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