22q11.2 缺失综合征（22q11.2DS）患者的社会功能障碍：自闭症谱系障碍还是不同的表型？
Social impairments in chromosome 22q11.2 deletion syndrome (22q11.2DS): autism spectrum disorder or a different endophenotype?
机构信息
Department of Pediatrics, University of California at Davis Medical Center, Sacramento, CA, USA,
出版信息
J Autism Dev Disord. 2014 Apr;44(4):739-46. doi: 10.1007/s10803-013-1920-x.
Abstract
High prevalence of autism spectrum disorders (ASD) has been reported in 22q11.2DS, although this has been based solely on parent report measures. This study describes the presence of ASD using a procedure more similar to that used in clinical practice by incorporating history (Social Communication Questionnaire) AND a standardized observation measure (Autism Diagnostic Observation Schedule) and suggests that ASD is not as common as previously reported in 22q11.2DS. Differences in methodology, along with comorbid conditions such as anxiety, likely contribute to false elevations in ASD prevalence and information from multiple sources should be included in the evaluation of ASD.
摘要
22q11.2DS 患者中自闭症谱系障碍（ASD）的患病率较高，但这仅仅基于家长报告的评估方法。本研究采用了一种更类似于临床实践的方法，结合病史（社会沟通问卷）和标准化观察评估（自闭症诊断观察量表）来评估 ASD，结果表明 ASD 的患病率并不像之前报道的那样高。研究方法的差异，以及焦虑等合并症的存在，可能导致 ASD 患病率的虚假升高，因此在评估 ASD 时应纳入来自多个来源的信息。
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