Department of Women's and Children´s Health, Uppsala University, Uppsala, Sweden.
Department of Health and Habilitation, Kungsgärdet Center, Uppsala, Sweden.
Acta Paediatr. 2019 Nov;108(11):2019-2026. doi: 10.1111/apa.14850. Epub 2019 Jun 9.
To analyse levels and profiles of autism symptoms in children with Down Syndrome (DS) with and without diagnosed autism spectrum disorder (ASD) and to specifically study the groups with severe Intellectual Disability (ID).
From a population-based cohort of 60 children with DS (age 5-17 years) with 41 participating children, scores obtained from the Autism Diagnostic Observation Schedule (ADOS) Module-1 algorithm were compared between those with and without diagnosed ASD. Children with DS and ASD were also compared to a cohort of children with idiopathic ASD, presented in the ADOS manual.
Children with DS and ASD had significantly higher ADOS scores in all domains compared to those without ASD. When the groups with DS, with and without ASD, were restricted to those with severe ID, the difference remained. When the children with DS and ASD and the idiopathic autism group were compared, the ADOS profiles were similar.
A considerable proportion of children with DS has ASD, but there is also a group of children with DS and severe ID without autism. There is a need to increase awareness of the high prevalence of autism in children with DS to ensure that appropriate measures and care are provided.
分析唐氏综合征（DS）患儿中伴有和不伴有自闭症谱系障碍（ASD）的自闭症症状水平和特征，并特别研究伴有严重智力障碍（ID）的患儿群体。
从一个基于人群的 60 名 DS 患儿队列（年龄 5-17 岁）中，有 41 名患儿参与，比较了有和无诊断 ASD 的患儿在自闭症诊断观察量表（ADOS）模块 1 算法中的评分。DS 伴 ASD 的患儿也与 ADOS 手册中呈现的特发性 ASD 患儿队列进行了比较。
与无 ASD 的患儿相比，DS 伴 ASD 的患儿在所有领域的 ADOS 评分均显著更高。当将 DS 患儿、伴和不伴 ASD 的患儿限制在严重 ID 的患儿中时，差异仍然存在。当比较 DS 伴 ASD 的患儿和特发性自闭症组时，ADOS 特征相似。
相当一部分 DS 患儿患有 ASD，但也有一组 DS 患儿伴有严重 ID 且无自闭症。需要提高对 DS 患儿自闭症高发病率的认识，以确保提供适当的措施和护理。
