Kiely Bridget, Vettam Sujit, Adesman Andrew
Division of Developmental and Behavioral Pediatrics, Department of Pediatrics, Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, NY, USA.
Appl Clin Genet. 2016 Jul 11;9:93-100. doi: 10.2147/TACG.S103975. eCollection 2016.
Several professional societies recommend that genetic testing be routinely included in the etiologic workup of children with developmental disabilities. The aim of this study was to determine the rate at which genetic testing is performed in this population, based on data from a nationally representative survey.
Data were analyzed from the Survey of Pathways to Diagnosis and Services, a telephone-based survey of parents and guardians of US school-age children with current or past developmental conditions. This study included 3,371 respondents who indicated that their child had an autism spectrum disorder (ASD), intellectual disability (ID), and/or developmental delay (DD) at the time of survey administration. History of genetic testing was assessed based on report by the parent/s. Children were divided into the following five mutually exclusive condition groups: ASD with ID; ASD with DD, without ID; ASD only, without ID or DD; ID without ASD; and DD only, without ID or ASD. Logistic regression was used to assess the demographic correlates of genetic testing, to compare the rates of genetic testing across groups, and to examine associations between genetic testing and use of other health-care services.
Overall, 32% of this sample had a history of genetic testing, including 34% of all children with ASD and 43% of those with ID. After adjusting for demographics, children with ASD + ID were more than seven times as likely as those with ASD only, and more than twice as likely as those who had ID without ASD, to have undergone genetic testing. Prior specialist care (developmental pediatrician or neurologist) and access to all needed providers within the previous year were associated with higher odds of genetic testing.
The majority of children in this nationally representative sample did not undergo recommended genetic testing. Research is needed to identify barriers to the use of genetic testing in this population.
多个专业学会建议，对发育障碍儿童进行病因检查时应常规开展基因检测。本研究旨在根据一项全国代表性调查的数据，确定该人群中进行基因检测的比例。
对“诊断与服务途径调查”的数据进行分析，该调查通过电话对美国有当前或既往发育状况的学龄儿童的家长和监护人进行。本研究纳入了3371名受访者，他们表示其子女在调查时患有自闭症谱系障碍（ASD）、智力障碍（ID）和/或发育迟缓（DD）。基因检测史根据家长的报告进行评估。儿童被分为以下五个相互排斥的疾病组：伴有ID的ASD；伴有DD但无ID的ASD；仅患有ASD，无ID或DD；无ASD的ID；仅患有DD，无ID或ASD。采用逻辑回归分析来评估基因检测的人口统计学相关性，比较各组之间的基因检测率，并研究基因检测与其他医疗服务使用之间的关联。
总体而言，该样本中有32%有基因检测史，包括所有ASD儿童中的34%以及ID儿童中的43%。在对人口统计学因素进行调整后，患有ASD + ID的儿童接受基因检测的可能性是仅患有ASD儿童的七倍多，是患有无ASD的ID儿童的两倍多。先前接受过专科护理（发育儿科医生或神经科医生）以及在前一年能够获得所有所需医疗服务提供者的帮助与基因检测的较高几率相关。
在这个全国代表性样本中，大多数儿童未接受推荐的基因检测。需要开展研究以确定该人群中使用基因检测的障碍。
