Universidade Federal de Minas Gerais, Faculdade de Medicina, Programa Saúde da Criança e do Adolescente, Belo Horizonte MG, Brasil.
CRPMS, UFR Études Psychanalytiques, Université Paris Diderot, Paris, France.
Arq Neuropsiquiatr. 2022 Jun;80(6):620-630. doi: 10.1590/0004-282X-ANP-2021-0156.
The diagnosis of autism spectrum disorder (ASD) in Down syndrome (DS) is underestimated because it is necessary to understand which aspects of the behavioral phenotype are related to DS and which are related to ASD. Objective: To conduct a systematic review of the literature on early identification and diagnosis of ASD in patients with DS. Data source: The VHL, MEDLINE, Cochrane, CINAHL, Scopus, Web of Science and Embase databases were searched and data were evaluated using PRISMA. Data synthesis: Out of 1,729 articles evaluated, 15 were selected. Although well studied, identification of ASD in DS can be difficult because of the need to understand which aspects of the behavioral phenotype are related to Down syndrome and which to autism. In this review, the prevalence of ASD was found to range from 12% to 41%. Early identification of autism risk in individuals with Down syndrome is still poorly studied, even though there are screening instruments for infants. Several instruments for diagnosing autism in individuals with Down syndrome were found, but a developmental approach is fundamental for making a clear diagnosis. Conclusions: Screening procedures are important for detecting early signs of autism risk in the first year of life. Careful evaluation methods are needed to establish the diagnosis, which include choosing appropriate tools for evaluation of development and cognition, and analysis of qualitative aspects of social interaction, among others. It has been indicated in the literature that early detection and timely accurate diagnosis, in association with an intervention, may benefit development, quality of life and social inclusion.
唐氏综合征（DS）患者的自闭症谱系障碍（ASD）诊断被低估，因为需要了解行为表型的哪些方面与 DS 相关，哪些与 ASD 相关。目的：对 DS 患者 ASD 的早期识别和诊断进行系统综述。数据来源：对 VHL、MEDLINE、Cochrane、CINAHL、Scopus、Web of Science 和 Embase 数据库进行了检索，并使用 PRISMA 评估了数据。数据综合：在评估的 1729 篇文章中，选择了 15 篇。尽管进行了深入研究，但由于需要了解行为表型的哪些方面与唐氏综合征有关，哪些与自闭症有关，因此识别 DS 中的 ASD 可能具有挑战性。在本综述中，ASD 的患病率范围为 12%至 41%。尽管有针对婴儿的筛查工具，但对唐氏综合征个体自闭症风险的早期识别仍研究不足。发现了一些用于诊断唐氏综合征个体自闭症的工具，但发展方法对于做出明确诊断至关重要。结论：筛查程序对于在生命的第一年检测自闭症风险的早期迹象很重要。需要仔细评估方法来建立诊断，包括选择适当的评估发展和认知的工具，以及分析社会互动的定性方面等。文献表明，早期发现和及时准确的诊断与干预相结合，可能有益于发展、生活质量和社会包容。
