Harrington John W, Emuren Leonard, Restaino Kathryn, Schrier Vergano Samantha
1 Eastern Virginia Medical School, Norfolk, VA, USA.
2 Children's Hospital of The King's Daughters, Norfolk, VA, USA.
Clin Pediatr (Phila). 2018 Dec;57(14):1642-1655. doi: 10.1177/0009922818803398. Epub 2018 Sep 28.
The purpose of this study was to determine the factors associated with genetic testing in children with autism spectrum disorders (ASDs) and understand parental involvement in the decision to test using survey data of parents of children with ASD. Evaluation by a geneticist was associated with genetic testing by more than 39 times compared to evaluation by a nongeneticist (95% CI = 9.15-168.81). Those offered testing by the physicians were more than 6 times more likely to be tested than those not offered testing (95% CI = 1.66-24.61). Financial concerns, not being offered testing, and lack of awareness were the most consistent reasons for not testing given by participants. A physician's recommendation for testing and an evaluation by a geneticist were the most important factors associated with genetic testing in children with ASD. Educating primary care physicians and nongenetic specialists can potentially improve genetic testing among children with ASD.
本研究的目的是确定与自闭症谱系障碍(ASD)儿童基因检测相关的因素,并利用ASD儿童家长的调查数据了解家长在检测决策中的参与情况。与非遗传学家的评估相比,遗传学家的评估与基因检测的关联度高出39倍以上(95%置信区间=9.15-168.81)。被医生提供检测的儿童接受检测的可能性比未被提供检测的儿童高出6倍以上(95%置信区间=1.66-24.61)。经济担忧、未被提供检测以及缺乏认识是参与者给出的不进行检测的最常见原因。医生对检测的推荐以及遗传学家的评估是与ASD儿童基因检测相关的最重要因素。对初级保健医生和非遗传专科医生进行教育可能会改善ASD儿童的基因检测情况。