Department of Genetic Counseling, Graduate School of Humanities and Sciences, Ochanomizu University, Tokyo, Japan.
Clinical Genetics Center, Tokyo Medical University, Tokyo, Japan.
J Hum Genet. 2018 May;63(5):669-672. doi: 10.1038/s10038-018-0412-4. Epub 2018 Feb 15.
Self-perception of people with Down Syndrome (DS) was originally studied in the United States in 2011; this study indicated that 99% of people with DS are happy with their lives. In this study, we investigated self-perceptions of people with DS in Japan and compared the results to the previous study made in the United States. The participants (n = 300) were 12 years old or older and members of Japan Down Syndrome Society (JDS). The questionnaire was collected between 30 October 2015 and 26 November 2015. Of 96(32%) responses, 76 (97%) agreed they are happy with their lives. We found that most people with DS in Japan also feel positive about themselves and their lives. Along with the start of Non-Invasive Prenatal Testing in Japan, DS draws an attention from Japanese people because maternal age has been increasing. This has resulted in the growth of the number of prenatal tests marketed in Japan. Therefore, we expect our results to be relevant to genetic counseling for the couples considering prenatal tests or parents raising their children with DS so that they have a clearer image about life with DS and can better visualize their life plans.
唐氏综合征患者的自我认知最初是在 2011 年于美国展开研究的；该研究表明，99%的唐氏综合征患者对自己的生活感到满意。在这项研究中，我们调查了日本唐氏综合征患者的自我认知，并将结果与美国之前的研究进行了比较。参与者（n=300）年龄在 12 岁或以上，是日本唐氏综合征协会（JDS）的成员。问卷调查于 2015 年 10 月 30 日至 11 月 26 日期间收集。在 96 份（32%）的回应中，有 76 份（97%）表示他们对自己的生活感到满意。我们发现，日本的大多数唐氏综合征患者对自己和自己的生活也持积极态度。随着日本非侵入性产前检测的开展，唐氏综合征越来越受到日本民众的关注，因为产妇年龄一直在增加。这导致日本市场上产前检测的数量不断增加。因此，我们希望我们的研究结果能为那些考虑产前检测的夫妇或抚养唐氏综合征患儿的父母提供遗传咨询，使他们对唐氏综合征患者的生活有更清晰的认识，并能更好地规划他们的生活。
