Windsperger Karin, Hoehl Stefanie
Division of Obstetrics and Feto-Maternal Medicine, Department of Obstetrics and Gynecology, Medical University of Vienna, Vienna, Austria.
Research Unit Developmental Psychology, Department of Developmental and Educational Psychology, Faculty of Psychology, University of Vienna, Vienna, Austria.
Front Psychiatry. 2021 Dec 14;12:749046. doi: 10.3389/fpsyt.2021.749046. eCollection 2021.
Down syndrome (DS) is the most prevalent neurodevelopmental disorder, with a known genetic cause. Besides facial dysmorphologies and congenital and/or acquired medical conditions, the syndrome is characterized by intellectual disability, accelerated aging, and an increased likelihood of an early onset Alzheimer's disease in adulthood. These common patterns of DS are derived from the long-held standard in the field of DS research, that describes individuals with DS as a homogeneous group and compares phenotypic outcomes with either neurotypical controls or other neurodevelopmental disorders. This traditional view has changed, as modern research pinpoints a broad variability in both the occurrence and severity of symptoms across DS, arguing for DS heterogeneity and against a single "DS profile." Nevertheless, prenatal counseling does not often prioritize the awareness of potential within-group variations of DS, portraying only a vague picture of the developmental outcomes of children with DS to expectant parents. This mini-review provides a concise update on existent information about the heterogeneity of DS from a full-spectrum developmental perspective, within an interdisciplinary context. Knowledge on DS heterogeneity will not only enable professionals to enhance the quality of prenatal counseling, but also help parents to set targeted early interventions, to further optimize daily functions and the quality of life of their children.
唐氏综合征(DS)是最常见的具有已知遗传病因的神经发育障碍。除了面部畸形以及先天性和/或后天性疾病外,该综合征的特征还包括智力残疾、加速衰老以及成年期早发性阿尔茨海默病的发病可能性增加。唐氏综合征的这些常见模式源于唐氏综合征研究领域长期以来的标准,该标准将唐氏综合征患者描述为一个同质群体,并将表型结果与神经典型对照组或其他神经发育障碍进行比较。随着现代研究指出唐氏综合征患者症状的发生和严重程度存在广泛差异,支持唐氏综合征的异质性并反对单一的“唐氏综合征概况”,这种传统观点已经发生了变化。然而,产前咨询通常并不优先考虑对唐氏综合征潜在群体内部差异的认识,只是向准父母描绘了患有唐氏综合征儿童发育结果的模糊画面。本综述从全谱发育角度,在跨学科背景下,对唐氏综合征异质性的现有信息进行了简要更新。关于唐氏综合征异质性的知识不仅能使专业人员提高产前咨询的质量,还能帮助家长制定有针对性的早期干预措施,以进一步优化孩子的日常功能和生活质量。