Abstract
Purpose
Down Syndrome Regression Disorder (DSRD) is a diagnosis of exclusion. Psychiatric and neuroimmunologic etiologies have been proposed although the exact etiology remains unknown. This study sought to review non-DSRD diagnoses at a large quaternary medical center specializing in the diagnosis of DSRD and compare clinical characteristics between those diagnosed with DSRD and those with non-DSRD diagnoses.
Methods
The authors performed a single-center retrospective, chart-based, review of referrals for developmental regression in individuals with Down syndrome.
Results
Two hundred and sixty-six individuals were evaluated for DSRD and of these, 54 (20%) ultimately had alternative diagnoses. Individuals with DSRD were more likely to have shorter nadir to clinical symptoms (p = 0.01, 95% CI: 0.36–0.47) and have preceding triggers (p < 0.001, 95% CI: 1.13–1.43) compared to those with alternative diagnoses. Individuals with non-DSRD diagnoses were more likely to be born premature (p = 0.01, 95% CI: 0.51–0.87) and have a history of epilepsy (p = 0.01, 95% CI: 0.23–0.77) but were also less likely to have a history of cytokine abnormalities on bloodwork (p < 0.001, 95% CI: 1.19–1.43) and have catatonia (p < 0.001, 95% CI: 1.54–2.17). The majority of alternative diagnoses (41/54, 76%) were autism spectrum disorder. In these cases, symptoms were more likely to be longstanding (symptoms > 12 months) and earlier onset (median 8 years, IQR: 6–11). Other diagnoses included epilepsy (5/54, 9%), Celiac disease (5/54, 9%), cerebrovascular disease (3/54, 6%).
Conclusions
This study identifies that 20% of individuals referred with concerns for DSRD have alternative diagnoses. The majority of these diagnoses were autism, but rare treatable conditions were also identified, highlighting the importance of a thorough neurodiagnostic assessment.
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JDS, MK and MSR designed the study, analyzed the data and wrote and editted the manuscript for intellectual content. LN, BNV, NKB, and KCP, performed data extraction, analysed data, and editted the manuscript for intellectual content.
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Santoro, J.D., Khoshnood, M.M., Nguyen, L. et al. Alternative Diagnoses in the Work Up of Down Syndrome Regression Disorder. J Autism Dev Disord (2023). https://doi.org/10.1007/s10803-023-06057-9
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DOI: https://doi.org/10.1007/s10803-023-06057-9