A neurocognitive endophenotype associated with rolandic epilepsy.
A neurocognitive endophenotype associated with rolandic epilepsy.
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DOI：
10.1111/j.1528-1167.2011.03371.x
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发表时间：
2012-04
期刊：
影响因子：
5.6
通讯作者：
Pal DK
中科院分区：
文献类型：
--
作者：
Smith AB;Kavros PM;Clarke T;Dorta NJ;Tremont G;Pal DK
患有罗兰癫痫（RE）的儿童在阅读、语言和注意力方面存在困难。他们的兄弟姐妹有阅读障碍的高风险，但没有其他已知的神经认知缺陷。因此，我们寻求RE相关神经认知内表型的证据。13名先证者（男：女9：4）和11名无癫痫的同胞（男：女5：6）完成了阅读、语言和注意力领域的神经认知评估。比较了损伤的频率，并将RE儿童及其兄弟姐妹的平均标准化评分与人口平均值进行了比较。兄弟姐妹和先证者在每个领域的损害频率相当：9%的兄弟姐妹和31%的先证者阅读受损; 36%的兄弟姐妹和54%的先证者语言受损; 70%的兄弟姐妹和67%的先证者有注意力障碍。样本和人口之间的差异的比较手段揭示了一个类似的模式，在两组语言缺陷的证据，特别是图片命名和注意竞争的话。对于注意力的测量，两组人都犯了明显更高的遗漏错误，并且他们保持注意力的能力受到了损害。患有RE的儿童和未受影响的兄弟姐妹在语言和注意力领域表现出神经认知障碍，这可能是一般临床方案无法检测到的。神经认知受损的先证者和兄弟姐妹在语言和注意力方面表现出非常相似的缺陷，这可以解释学习成绩差。早期评估和干预可能会使这些孩子在学业上受益。
Children with Rolandic Epilepsy (RE) experience difficulties in reading, language and attention. Their siblings are at high risk of dyslexia but are not otherwise known to have neurocognitive deficits. We therefore sought evidence for a RE-associated neurocognitive endophenotype. Thirteen probands (male:female 9:4) and 11 epilepsy-free siblings (male:female 5:6) completed a neurocognitive evaluation within the domains of reading, language and attention. Frequencies of impairment were compared, and mean standardized scores of children with RE and their siblings were each compared against population means. Frequency of impairment in each domain was comparable for siblings and probands: 9% of siblings and 31% of probands were reading impaired; 36% of siblings and 54% of probands were language impaired; 70% of siblings and 67% of probands had attention impairments. Comparison of differences between sample and population means revealed evidence of a similar pattern of language deficits in both groups, specifically for picture naming and attention to competing words. For measures of attention, both groups made significantly higher omission errors and were impaired in their ability to sustain attention. Children with RE and unaffected siblings demonstrate neurocognitive impairments in the domains of language and attention that are likely to remain undetected with general clinical protocols. Neurocognitively impaired probands and siblings showed a remarkably similar profile of deficits in language and attention that could explain poor academic performance. Early evaluation and intervention may benefit these children academically.
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影响因子：
1.7
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