Ruparelia Kavita, Manji Karim, Abubakar Amina, Newton Charles R
Open University, Milton Keynes, UK.
Department of Pediatrics and Child Health, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Autism Res Treat. 2017;2017:6346912. doi: 10.1155/2017/6346912. Epub 2017 Jul 5.
Substantial evidence indicates that parents of autistic individuals often display milder forms of autistic traits referred to as the broader autism phenotype (BAP). To determine if discrete endophenotypes of autism can be identified, we reviewed the literature to assess the evidence of behavioral, cognitive, and psychiatric profiles of the BAP. A systematic review was conducted using EMBASE, MEDLINE, PsycINFO, PsycEXTRA, and Global Health. Sixty papers met our inclusion criteria and results are discussed according to the proportion of studies that yield significant deficits per domain. The behavioral, cognitive, and psychiatric endophenotypes in parents of autistic probands are still not clarified; however, evidence suggests mild social/communication deficits, rigid/aloof personality traits, and pragmatic language difficulties as the most useful sociobehavioral candidate endophenotype traits. The existence of deficits in the cognitive domain does suggest familial vulnerability for autism. Furthermore, increased depressed mood and anxiety can also be useful markers; however, findings should be interpreted with caution because of the small number of studies in such heterogeneously broad domains and several methodological limitations.
大量证据表明，自闭症患者的父母常常表现出较为轻微的自闭症特征，即所谓的泛自闭症表型（BAP）。为了确定是否能够识别出自闭症的离散内表型，我们查阅了相关文献，以评估BAP的行为、认知和精神状况方面的证据。我们使用EMBASE、MEDLINE、PsycINFO、PsycEXTRA和Global Health进行了系统综述。60篇论文符合我们的纳入标准，并根据每个领域出现显著缺陷的研究比例对结果进行了讨论。自闭症先证者父母的行为、认知和精神内表型仍未明确；然而，有证据表明，轻微的社交/沟通缺陷、刻板/冷漠的人格特质以及语用语言困难是最有用的社会行为候选内表型特征。认知领域存在缺陷确实表明存在自闭症的家族易感性。此外，情绪低落和焦虑加剧也可能是有用的指标；然而，由于在如此广泛且异质的领域中研究数量较少，以及存在若干方法学上的局限性，研究结果应谨慎解读。
