Department of Health and Kinesiology, Texas A&M University, College Station, Texas, USA.
Genet Med. 2013 Apr;15(4):274-81. doi: 10.1038/gim.2012.145. Epub 2013 Jan 3.
The goal of this first-of-its-kind qualitative study was to examine the awareness, attitudes, and experiences among parents of autistic children regarding autism genetic testing.
We conducted in-depth, individual, and semistructured interviews with 42 parents of autistic children with diverse racial/ethnic backgrounds. All interviews were audio-taped, transcribed, and coded into major themes and subthemes.
Approximately one-quarter of participants had two or more autistic children, and about half of them were ethnic/racial minorities. The majority of participants postulated favorable attitudes toward autism genetic testing for three main reasons: early intervention and treatment, identifying the etiology of autism, and informed family planning. Nevertheless, among parents who had taken their children for genetic testing, some expressed frustration and questioned the competency of their providers in interpreting test results. Asian parents and those with a low socioeconomic status expressed lower awareness and tended to have more limited access to autism genetic testing.
As health-care providers play a vital role in providing genetic services and education, these professionals should be educated and be sensitive to the needs of parents with autistic children. Further quantitative research is required to examine the effects of socio-demographic factors on parents' awareness, attitudes, and experiences regarding autism genetic testing.
本项首例定性研究旨在调查自闭症患儿父母对自闭症基因检测的认知、态度和经验。
我们对 42 名具有不同种族/民族背景的自闭症儿童的父母进行了深入的、个体的和半结构化访谈。所有访谈均进行录音、转录，并编为主要主题和子主题。
约四分之一的参与者有两个或更多自闭症儿童，其中约一半为少数民族/种族。大多数参与者出于三个主要原因对自闭症基因检测持有利态度：早期干预和治疗、确定自闭症的病因以及知情的家庭计划。然而，在带孩子进行基因检测的父母中，一些人表示不满，并质疑其提供者解读检测结果的能力。亚洲父母和社会经济地位较低的父母认知度较低，接受自闭症基因检测的机会也较少。
由于医疗保健提供者在提供遗传服务和教育方面发挥着重要作用，这些专业人员应该接受教育，并对自闭症儿童的父母的需求保持敏感。需要进一步的定量研究来研究社会人口因素对父母对自闭症基因检测的认知、态度和经验的影响。
