史密斯-勒米-奥皮茨综合征患者有可能拥有正常智商。
Normal IQ is possible in Smith-Lemli-Opitz syndrome.
作者信息
Eroglu Yasemen, Nguyen-Driver Mina, Steiner Robert D, Merkens Louise, Merkens Mark, Roullet Jean-Baptiste, Elias Ellen, Sarphare Geeta, Porter Forbes D, Li Chumei, Tierney Elaine, Nowaczyk Małgorzata J, Freeman Kurt A
机构信息
Department of Pediatrics, Oregon Health and Science University, Portland, Oregon.
Institute on Development and Disability, Oregon Health and Science University, Portland, Oregon.
出版信息
Am J Med Genet A. 2017 Aug;173(8):2097-2100. doi: 10.1002/ajmg.a.38125. Epub 2017 Mar 27.
Children with Smith-Lemli-Opitz syndrome (SLOS) are typically reported to have moderate to severe intellectual disability. This study aims to determine whether normal cognitive function is possible in this population and to describe clinical, biochemical and molecular characteristics of children with SLOS and normal intelligent quotient (IQ). The study included children with SLOS who underwent cognitive testing in four centers. All children with at least one IQ composite score above 80 were included in the study. Six girls, three boys with SLOS were found to have normal or low-normal IQ in a cohort of 145 children with SLOS. Major/multiple organ anomalies and low serum cholesterol levels were uncommon. No correlation with IQ and genotype was evident and no specific developmental profile were observed. Thus, normal or low-normal cognitive function is possible in SLOS. Further studies are needed to elucidate factors contributing to normal or low-normal cognitive function in children with SLOS.
据报道，患有史密斯-莱姆利-奥皮茨综合征（SLOS）的儿童通常有中度至重度智力障碍。本研究旨在确定该人群中是否可能存在正常认知功能，并描述患有SLOS且智商（IQ）正常的儿童的临床、生化和分子特征。该研究纳入了在四个中心接受认知测试的SLOS患儿。所有至少有一项IQ综合得分高于80的儿童均纳入研究。在145例SLOS患儿队列中，发现6名患SLOS的女孩和3名患SLOS的男孩IQ正常或接近正常低限。主要/多发器官异常和低血清胆固醇水平并不常见。未发现IQ与基因型之间存在明显相关性，也未观察到特定的发育模式。因此，SLOS患儿有可能出现正常或接近正常低限的认知功能。需要进一步研究以阐明导致SLOS患儿认知功能正常或接近正常低限的因素。
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