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Immunotherapy Responsiveness and Risk of Relapse in Down Syndrome Regression Disorder
Jonathan Santoro1, Noemi Spinazzi2, Robyn Filipink2
1Children's Hospital Los Angeles.
Research Square
|February 24, 2023
Summary
Down syndrome regression disorder (DSRD) treatment with intravenous immunoglobulin (IVIg) showed significant clinical improvement. However, nearly half of patients relapsed after discontinuing IVIg, particularly those with autoimmune history or abnormal neurodiagnostics.
Area of Science:
- Neurology
- Immunology
- Genetics
Background:
- Down syndrome regression disorder (DSRD) presents as unexplained neuropsychiatric regression.
- Identifying effective treatments and understanding relapse factors for DSRD is crucial.
Approach:
- A prospective, multi-center, observational study evaluated IVIg effectiveness in 82 DSRD patients.
- Clinical symptoms were tracked using standardized scores (NPITS, CGI-S, BFCRS) during and after IVIg therapy.
- Patients underwent a standardized wean-off protocol after 9-12 months of treatment.
Key Points:
- IVIg treatment significantly reduced DSRD symptoms, including catatonia, global severity, and neuropsychiatric scores.
- Approximately 46% of patients relapsed after discontinuing IVIg.
- Neurologic relapse was associated with abnormal neurodiagnostic studies (MRI, LP) and a personal history of autoimmunity.
Conclusions:
- Intravenous immunoglobulin (IVIg) is highly effective for treating Down syndrome regression disorder (DSRD).
- A history of autoimmunity or abnormal neurodiagnostic findings predicts a higher risk of relapse after IVIg discontinuation.
- These findings suggest a potential chronic autoimmune etiology in some DSRD cases.
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