TEAM DOWN

Depression is more common in individuals with Down syndrome (DS), often presenting as severe and atypical. Its symptoms frequently overlap with Down Syndrome Regression Disorder (DSRD), making diagnosis and treatment challenging. Both depression and DSRD often co-occur with catatonia, which is also more prevalent in DS. Evidence suggests that these conditions are frequently underdiagnosed and undertreated in this population.

This study aims to assess the effectiveness of standard care for depression in DS, with a particular focus on escitalopram. Secondary objectives include analyzing the progression of depressive symptoms, evaluating treatments for catatonia and DSRD (e.g., lorazepam), identifying predictors of treatment response, exploring associations with neurodegeneration biomarkers like NfL, and assessing the feasibility of patient-reported outcome measures. Findings from this study may contribute to earlier and more effective treatments for depression, DSRD, and catatonia.

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A prospective, registry-based observational cohort study will be conducted over 24 months, with monthly assessments in the first year and semi-annual follow-ups in the second. A two-week baseline period before starting escitalopram will be implemented when possible, though treatment may begin earlier if clinically necessary.

The study population includes individuals aged 40 years or younger with a confirmed DS diagnosis and suspected depression, catatonia, or DSRD, as determined by a specialist. A caregiver familiar with the patient’s behavior before symptom onset must be available for proxy-reported assessments. Patients with other genetic, metabolic, or neurological conditions contributing to neuropsychiatric symptoms will be excluded.

Participants will receive standard care from their treating physician. They will either attend a single hospital visit or receive a home visit from the researcher. Blood samples will be collected at baseline, and all further assessments will be conducted electronically throughout the study.

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Researchers

Lindsey Koster, PhD-candidate - teamdown@amsterdamumc.nl / l.e.a.koster@amsterdamumc.nl

Agnies van Eeghen

Anja Lok,

Arne Popma