Ousley Opal, Evans A Nichole, Fernandez-Carriba Samuel, Smearman Erica L, Rockers Kimberly, Morrier Michael J, Evans David W, Coleman Karlene, Cubells Joseph
Emory Autism Center, Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, 1551 Shoup Court, Atlanta, GA 30322, USA.
Marcus Autism Center, Children's Healthcare of Atlanta, 1920 Briarcliff Road, Atlanta, GA 30329, USA.
Int J Mol Sci. 2017 May 18;18(5):1071. doi: 10.3390/ijms18051071.
22q11.2 deletion syndrome (22q11.2DS) is a genomic disorder reported to associate with autism spectrum disorders (ASDs) in 15-50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD diagnoses. Such wide variability in findings may arise in part due to methodological differences across studies. Our study sought to determine whether individuals with 22q11.2DS meet strict ASD diagnostic criteria using research-based guidelines from the Collaborative Programs of Excellence in Autism (CPEA), which required a gathering of information from three sources: the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observational Schedule (ADOS), and a clinician's best-estimate diagnosis. Our study examined a cohort of children, adolescents, and young adults ( = 56) with 22q11.2DS, who were ascertained irrespective of parents' behavioral or developmental concerns, and found that 17.9% ( = 10) of the participants met CPEA criteria for an ASD diagnosis, and that a majority showed some level of social-communication impairment or the presence of repetitive behaviors. We conclude that strictly defined ASDs occur in a substantial proportion of individuals with 22q11.2DS, and recommend that all individuals with 22q11.2DS be screened for ASDs during early childhood.
22q11.2缺失综合征（22q11.2DS）是一种基因组疾病，据报道在15%至50%的病例中与自闭症谱系障碍（ASD）相关；然而，其他人认为患有22q11.2DS的个体表现出与ASD相关的精神或行为特征，但不符合ASD诊断的全部标准。研究结果的这种巨大差异可能部分是由于各研究方法的不同。我们的研究旨在使用来自自闭症卓越合作项目（CPEA）基于研究的指南，确定患有22q11.2DS的个体是否符合严格的ASD诊断标准，该指南要求从三个来源收集信息：自闭症诊断访谈修订版（ADI-R）、自闭症诊断观察量表（ADOS）以及临床医生的最佳估计诊断。我们的研究对一组患有22q11.2DS的儿童、青少年和年轻人（n = 56）进行了检查，这些人是在不考虑父母的行为或发育问题的情况下确定的，发现17.9%（n = 10）的参与者符合CPEA的ASD诊断标准，并且大多数人表现出一定程度的社会沟通障碍或存在重复行为。我们得出结论，严格定义的ASD在相当比例的22q11.2DS个体中存在，并建议在幼儿期对所有22q11.2DS个体进行ASD筛查。
