Genetic testing and genetic counseling among Medicaid-enrolled children with autism spectrum disorder in 2001 and 2007.
Genetic testing and genetic counseling among Medicaid-enrolled children with autism spectrum disorder in 2001 and 2007.
复制标题
DOI：
10.1007/s00439-013-1362-8
复制
发表时间：
2014-01
期刊：
影响因子：
5.3
通讯作者：
Mandell DS
中科院分区：
文献类型：
--
作者：
Shea L;Newschaffer CJ;Xie M;Myers SM;Mandell DS
自闭症谱系障碍（ASD）患病率的上升导致人们更加努力地了解儿童早期出现的这组复杂疾病的原因。虽然这一领域的研究正在进行中，并产生有用的，但关于ASD的复杂信息，在ASD儿童中使用基因检测和咨询的指导方针发生冲突。本研究的目的是确定在广泛实施临床染色体微阵列（CMA）之前使用基因检测和咨询的频率，以建立使用这两种服务的基线，并调查ASD儿童使用这两种服务的潜在差异。我们发现，大约三分之二的ASD儿童接受了基因检测或咨询，即使在CMA之前，这两种服务的使用也随着时间的推移而增加。女性和患有共病的智力残疾诊断都增加了接受基因检测和遗传咨询的可能性。基于种族/民族的两种服务使用的最初差异表明，在向ASD和其他精神健康疾病儿童提供的其他服务中观察到的令人不安的差异也持续存在于基因检测和咨询中。这些结果应该激励进一步调查遗传检测和咨询对ASD儿童及其家庭的影响，并应推动努力探索和应对这些服务提供中的差异，特别是随着对这一主题的科学研究的推进。
The rise in the prevalence of autism spectrum disorder (ASD) has resulted in increased efforts to understand the causes of this complex set of disorders that emerge early in childhood. Although research in this area is underway and yielding useful, but complex information about ASD, guidelines for the use of genetic testing and counseling among children with ASD conflict. The purpose of this study was to determine the frequency of use of genetic testing and counseling before the widespread implementation of clinical chromosomal microarray (CMA) to establish a baseline for the use of both services and to investigate potential disparities in the use of both services among children with ASD. We found that about two-thirds of children with ASD received genetic testing or counseling and the use of both services is increasing with time, even in the pre-CMA era. Being female and having a comorbid intellectual disability diagnosis both increased the likelihood of receiving genetic testing and genetic counseling. Initial discrepancies in the use of both services based on race/ethnicity suggest that troubling disparities observed in other services delivered to children with ASD and other mental health disorders persist in genetic testing and counseling as well. These results should incentivize further investigation of the impact of genetic testing and counseling on children with ASD and their families, and should drive efforts to explore and confront disparities in the delivery of these services, particularly with the advancing scientific research on this topic.