University of Jordan, Jordan.
University of Nebraska Medical Center, USA.
Autism. 2022 Aug;26(6):1491-1498. doi: 10.1177/13623613211055535. Epub 2021 Nov 15.
Autism is the most common neurodevelopmental disorder in children worldwide. Genetic factors play an important role in the risk of developing autism. Determining the genetic cause of autism is key to understanding the biological processes that lead to the clinical manifestations of autism, and can inform the management and even prevention of this condition. Establishing genetic causes of autism requires collection of genetic data on a global scale. Limited research on genetic testing for individuals with autism is available from developing countries in low-resource regions. In this study, we explored the types of investigations ordered for Jordanian children with autism by their physicians. A representative sample of parents of children with autism in Jordan was questioned about the studies that their children received. We found that the recommended genetic testing was only performed in a small number of children with autism. In contrast, most children in the sample received non-genetic testing, which is not routinely recommended. We also explored the sociocultural factors that may influence the decision to perform genetic testing in this population. We discuss our findings in light of the data available from other developing and developed countries.
自闭症是全球儿童最常见的神经发育障碍。遗传因素在自闭症发病风险中起着重要作用。确定自闭症的遗传原因是理解导致自闭症临床表现的生物学过程的关键,并且可以为这种疾病的管理甚至预防提供信息。确定自闭症的遗传原因需要在全球范围内收集遗传数据。来自资源有限的低资源地区发展中国家的自闭症个体遗传检测的研究非常有限。在这项研究中,我们探讨了约旦自闭症儿童的医生为其开出的检查类型。对约旦自闭症儿童的代表性父母样本进行了询问,了解他们的孩子接受了哪些研究。我们发现,只有少数自闭症儿童接受了推荐的基因检测。相比之下,样本中的大多数儿童接受了非基因检测,而这种检测通常不被推荐。我们还探讨了可能影响该人群进行基因检测的社会文化因素。我们根据来自其他发展中国家和发达国家的数据讨论了我们的发现。