Natividade Manuelle Maria Pereira, Moreira Adson José, Nassif Lívia Silva, Dos Santos Bárbara Rodrigues Alvernaz, Borin Marcus Carvalho, Alvares-Teodoro Juliana, Acurcio Francisco de Assis, Guerra Augusto Afonso
Universidade Federal de Minas Gerais, Faculdade de Farmácia, Departamento de Farmácia Social, Belo Horizonte MG, Brazil.
Universidade Federal de Minas Gerais, Faculdade de Farmácia, Belo Horizonte MG, Brazil.
Dement Neuropsychol. 2025 Jul 18;19(Suppl 1):e20240233. doi: 10.1590/1980-5764-DN-2024-0233. eCollection 2025.
Down syndrome regression disorder (DSRD) is characterized by an acute or subacute neurocognitive regression that severely impacts the autonomy and quality of life of individuals with Down syndrome (DS). Despite its growing recognition, understanding of the condition remains limited, particularly regarding its etiology and the factors contributing to its development.
The aim of this study was to systematically map the available evidence regarding the potential causes of DSRD and the factors that may contribute to its development.
Following the Joanna Briggs Institute (JBI) methodology for scoping reviews, a comprehensive three-step search strategy was conducted across MEDLINE (PubMed), Embase, Cochrane, and Lilacs. Studies published in any language were considered, with no restrictions on publication date.
In total, 14 studies met the eligibility criteria. The findings consistently point to chronic autoimmunity and immune dysregulation as potential causes of DSRD. Additionally, the contribution of genetic variants associated with the type 1 interferon inflammatory response has been suggested. Finally, the role of psychosocial and environmental stressors was highlighted, as these are considered potential triggers that precede the onset of DSRD manifestations.
The hypothesis that DSRD is a multifactorial condition seems reasonable. Nevertheless, the immune system may play a central role in its development, as the identified causes converge toward a neuroinflammatory process. Furthermore, the contribution of genetic variants associated with the inflammatory response and the role of psychosocial stressors as triggers for DSRD also appear plausible.
唐氏综合征退行性疾病（DSRD）的特征是急性或亚急性神经认知功能衰退，这严重影响唐氏综合征（DS）患者的自主性和生活质量。尽管对其认识不断增加，但对该病症的了解仍然有限，尤其是在其病因和促成其发展的因素方面。
本研究的目的是系统梳理关于DSRD潜在病因及可能促成其发展的因素的现有证据。
按照乔安娜·布里格斯研究所（JBI）的范围综述方法，在MEDLINE（PubMed）、Embase、Cochrane和Lilacs数据库中进行了全面的三步检索策略。纳入任何语言发表的研究，对发表日期无限制。
总共14项研究符合纳入标准。研究结果一致表明慢性自身免疫和免疫失调是DSRD的潜在病因。此外，有人提出与1型干扰素炎症反应相关的基因变异也有作用。最后，强调了心理社会和环境应激源的作用，因为这些被认为是DSRD表现发作之前的潜在触发因素。
DSRD是一种多因素病症这一假说似乎合理。然而，免疫系统可能在其发展中起核心作用，因为已确定的病因都指向神经炎症过程。此外，与炎症反应相关的基因变异的作用以及心理社会应激源作为DSRD触发因素的作用似乎也有道理。
