Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research; Department of Women's and Children's Health, Karolinska Institutet and Child and Adolescent Psychiatry, Stockholm Health Care Services, Stockholm County Council, Stockholm, Sweden.
Astrid Lindgren Children's Hospital, Karolinska University Hospital, Region Stockholm, Sweden.
Autism. 2022 Oct;26(7):1795-1804. doi: 10.1177/13623613211066130. Epub 2021 Dec 28.
Several medical professional societies recommend clinical genetic testing for autistic individuals as many genetic conditions are linked to autism. However, it is unclear to what extent autistic individuals and parents of autistic children are offered clinical genetic testing. We conducted a community-based survey to estimate the access, utilization, and awareness for clinical genetic testing in Sweden. In total, 868 parents of autistic children and 213 autistic adolescents or adults participated as respondents. The referral rate for clinical genetic testing after autism spectrum disorder diagnosis was low, with only 9.1% for the autistic children as reported by their parents and 2.8% for autistic adolescents/adults. The autistic children who got referrals were more likely to have intellectual disability and language disorder. We also report that awareness of the clinical genetic testing possibility was low in both respondent groups. We also highlight preferred communication means and needs for information before clinical genetic testing. Our results show that utilization and access are low in Sweden, and more studies should be conducted to report these rates in different countries to analyze the effects of clinical genetic testing on healthcare for autistic individuals. Our results highlight the most important information for the families and how the information should be communicated prior to clinical genetic testing.
一些医学专业协会建议对自闭症患者进行临床基因检测，因为许多遗传疾病与自闭症有关。然而，自闭症患者和自闭症儿童的父母接受临床基因检测的程度尚不清楚。我们进行了一项基于社区的调查，以估计瑞典临床基因检测的可及性、利用率和知晓率。共有 868 名自闭症儿童的父母和 213 名自闭症青少年或成年人作为受访者参加了调查。自闭症谱系障碍诊断后进行临床基因检测的转诊率较低，父母报告自闭症儿童的转诊率仅为 9.1%，自闭症青少年/成年人的转诊率为 2.8%。获得转诊的自闭症儿童更有可能存在智力障碍和语言障碍。我们还报告称，两个受访者群体对临床基因检测可能性的认识都较低。我们还强调了在进行临床基因检测之前，首选的沟通方式和对信息的需求。我们的研究结果表明，在瑞典，利用率和可及性都较低，应该在不同国家进行更多的研究来报告这些比率，以分析临床基因检测对自闭症患者的医疗保健的影响。我们的研究结果突出了家庭最重要的信息，以及在进行临床基因检测之前应如何进行信息沟通。
