Developmental and behavioral characteristics of individuals with Pallister-Killian syndrome
Developmental and behavioral characteristics of individuals with Pallister-Killian syndrome
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DOI：
10.1002/ajmg.a.35670
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发表时间：
2012-12-01
影响因子：
2
通讯作者：
Pipan, Mary
中科院分区：
文献类型：
--
作者：
Kostanecka, Anna;Close, Lindsey B.;Pipan, Mary
PallisterKillian综合征是一种由12号染色体短臂马赛克四体的存在引起的散发性疾病。PallisterKillian综合征的病例报告描述了一系列发育和行为结果，但目前尚无系统研究这些结果。这项研究的目的是描述参加全国家庭会议的PallisterKillian综合征患者及其受影响儿童的发育和行为特征。对16名16个月至19岁的PallisterKillian综合征患者进行了问卷调查和直接访谈。在参加研究的16名患者中，有3名先证者年龄在16至19个月之间，并有严重的发育迟缓。在其余13名24个月大的先证者中，11名儿童的发育水平低于8个月的同龄儿童。他们不能走动，不能说话，被动，在日常生活中需要广泛的帮助。有两个功能更高的孩子，他们是会走路的，也是会说话的。其中一名儿童符合自闭症诊断访谈的自闭症标准-修订后。因此，尽管大多数PallisterKillian综合征患者都表现出严重的智力残疾和感觉障碍，但PallisterKillian综合征患者也可能有轻度到中度的智力残疾。因此，对于有PallisterKillian综合征体检结果的个体，应该考虑正式的诊断测试，即使是在轻度到中度智力残疾的个体也是如此。还需要进一步的研究来确定这些患有PallisterKillian综合症的高功能儿童是否有更高的自闭症风险。(C)2012年威利期刊公司。
PallisterKillian syndrome is a sporadic disorder caused by the presence of mosaic tetrasomy of the short arms of chromosome 12. Case reports of children with PallisterKillian syndrome have described a range of developmental and behavioral outcomes, but no systematic studies of these outcomes exist. The objective of this study was to describe developmental and behavioral characteristics of individuals with PallisterKillian syndrome participating in a national meeting of families and their affected children. Sixteen individuals with PallisterKillian syndrome, ages 16 months to 19 years, were studied using questionnaires and direct interview. Among the 16 patients enrolled in the study, 3 probands were between 16 and 19 months, and had severe developmental delay. Among the rest of the 13 probands older than 24 months, 11 children had a developmental level of less than 8 months age equivalent. They were non-ambulatory, non-verbal, and passive, requiring extensive assistance in daily living. There were two higher functioning children who were ambulatory, and verbal. One of these children met criteria for Autism on the Autism Diagnostic Interview-Revised. Thus, although most individuals with PallisterKillian syndrome studied showed profound intellectual disability and sensory impairments, individuals with PallisterKillian syndrome can have mild to moderate intellectual disability. Therefore, in individuals with physical examination findings of PallisterKillian syndrome, formal diagnostic testing should be considered, even in individuals with mild to moderate intellectual disability. Further studies will be needed to determine if these higher functioning children with PallisterKillian syndrome are at increased risk for autism. (C) 2012 Wiley Periodicals, Inc.