Specific cognitive deficits in young children with cystinosis: evidence for an early effect of the cystinosin gene on neural function.
Specific cognitive deficits in young children with cystinosis: evidence for an early effect of the cystinosin gene on neural function.
复制标题
胱氨酸病幼儿的特定认知缺陷：胱氨酸基因对神经功能早期影响的证据。
DOI：
10.1016/j.jpeds.2007.02.062
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发表时间：
2007
期刊：
影响因子：
--
通讯作者：
Babchuck,Lynne
中科院分区：
文献类型：
--
作者：
Trauner,DorisA;Spilkin,AmyM;Williams,Jennifer;Babchuck,Lynne
OBJECTIVESInfantile nephropathic cystinosis is associated with a specific cognitive deficit in visual spatial processing in older children and adults. The cause of this deficit is unknown. This study was designed to determine whether the cognitive deficit is present in young children with cystinosis, suggesting an early effect of the genetic disorder on brain development.STUDY DESIGNYoung children (n = 25; age, 3-8 years) with cystinosis and 25 matched control subjects underwent cognitive testing, including tests of intelligence, visual perceptual, visual spatial, and visual motor functions.RESULTSChildren with cystinosis performed significantly more poorly on tests of visual spatial and visual motor function than did control subjects. Visual perceptual abilities were equivalent in the 2 groups.CONCLUSIONThe same pattern of visual spatial deficit is present in young children with cystinosis as has previously been demonstrated in older children and adults, which suggests that there may be an influence of the cystinosis gene on brain development, rather than an adverse effect of prolonged cystine accumulation in the brain during childhood.
