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Research Article: Psychosocial stressors prior to Down Syndrome Regression Disorder: findings from two referral clinics

Date Published: 2026-07-07

Abstract:
To examine the prevalence, categories, and timing of psychosocial stressors preceding Down Syndrome Regression Disorder (DSRD) onset, and to characterize the clinical presentation in a cohort of adolescents and adults evaluated at two specialized referral clinics. We conducted a retrospective cohort study including all individuals diagnosed with DSRD between 2021 and 2024. Psychosocial stressors occurring ? 6 months before symptom onset were identified using a standardized coding matrix and independently rated by two blinded coders. Sociodemographic, clinical, and functional severity variables were summarized using descriptive statistics and exact 95% confidence intervals. At least one adverse psychosocial stressor was identified in 91% of the cohort (31/34; 95% CI 76–98). The most frequent categories were bereavement or illness of a close person (35%; 95% CI 20–54) and separation or displacement of a significant figure (32%; 95% CI 17–51). Social withdrawal (100%; 95% CI 90-100), psychomotor slowing (97%; 95% CI 85-100), and loss of previously acquired abilities (94%; 95% CI 80-99) were the most common symptoms at initial assessment.

Introduction:
Down Syndrome Regression Disorder (DSRD) is characterized by the subacute or acute loss of previously acquired skills in individuals with Down syndrome (DS), accompanied by emotional, behavioral, and motor changes. It typically emerges during adolescence or adulthood and may include psychotic symptoms or catatonia, leading to a substantial decline in functioning and quality of life ( 1 – 4 ). Although recent consensus criteria (see Appendix 1 ) have improved diagnostic consistency, the underlying etiopathogenesis…

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