Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders
Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders
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DOI：
10.1097/00041444-200409000-00002
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发表时间：
2004-09-01
影响因子：
0.9
通讯作者：
Brown, J
中科院分区：
文献类型：
--
作者：
Bolton, PF;Veltman, MWM;Brown, J
目的 在被转诊至两个自闭症评估中心之一的未筛选儿童系列中，研究了15q11 - q13异常以及包括染色体核型异常在内的其他可能致病的医学病症的频率。
方法 对221例病例使用自闭症诊断访谈和观察量表进行评估，并在适当情况下使用标准化的智力和语言能力测试。回顾病史和记录，并利用分子和细胞遗传学检查来检测染色体异常。
结果 根据《国际疾病分类》第10版标准，181例被诊断为患有自闭症谱系障碍（自闭症样广泛性发育障碍），40例被诊断为患有其他障碍。自闭症谱系障碍儿童中有21例（11.6%）可能患有致病病症，而其他诊断的儿童中有6例（15%）。1名自闭症谱系障碍儿童存在父系遗传的15q11 - 13家族性重复。该家族内的基因型 - 表型相关性模式表明，这种异常形式可能带来发育困难的风险，尽管该风险似乎并非特定于自闭症谱系障碍。
结论 自闭症谱系障碍儿童中可能致病的医学和细胞遗传学病症的总体发生率较低，与在同一诊所就诊的其他发育/神经精神障碍儿童的病症发生率无差异。需要进一步研究以确定父系15q11 - 13重复是否会导致不良的发育结果。（C）2004年利平科特·威廉姆斯·威尔金斯出版公司
Objectives The frequency of abnormalities of 15q11-q13 and other possibly causal medical disorders including karyotypic abnormalities was investigated in an unselected series of children who were referred to one of two autism assessment centres.Methods Two hundred and twenty-one cases were assessed using the Autism Diagnostic Interview and Observation Schedule and, where appropriate, standardized tests of intelligence and language abilities. Medical histories and notes were reviewed, and molecular and cytogenetic investigations used to detect chromosomal abnormalities.Results One hundred and eighty-one cases were diagnosed according to International Classification of Diseases - version 10 criteria as having an autism spectrum disorder (autistic-like Pervasive Developmental Disorder) and 40 cases as having other disorders. Twenty-one (11.6%) of the children with autism spectrum disorders had a possibly causal condition compared with six (15%) of the children with other diagnoses. One child with an autism spectrum disorder had a paternally inherited familial duplication of 15q11-13. The pattern of genotype-phenotype correlation within the family indicated that this form of abnormality might carry a risk for developmental difficulties, although the risk did not appear to be specific for autism spectrum disorders.Conclusion The overall rate of possibly causal medical and cytogenetic conditions in children with autism spectrum disorders was low and no different from the rate of disorder in children with other developmental/neuropsychiatric disorders that attended the same clinics. Further research is required to determine whether paternal duplication of 15q11-13 gives rise to adverse developmental outcomes. (C) 2004 Lippincott Williams Wilkins.