Academic Journal
Quantitative Natural History Modeling of Dup15q Syndrome.
| Τίτλος: | Quantitative Natural History Modeling of Dup15q Syndrome. |
|---|---|
| Συγγραφείς: | Zawadski, L.1 (AUTHOR), Burkart, S.2 (AUTHOR), Hempel, M.2 (AUTHOR), Syrbe, S.1 (AUTHOR), Driedger, J. H.1 (AUTHOR) |
| Πηγή: | Neuropediatrics. 2026 Supplement 1, Vol. 57, pS1-S24. 24p. |
| Θεματικοί όροι: | *DNA copy number variations, *Developmental delay, *Disease progression, *Phenotypes, *Seizures (Medicine), *Neural development, *Epilepsy |
| Περίληψη: | This article focuses on the clinical characterization and natural history of Dup15q syndrome, a rare neurodevelopmental disorder caused by copy-number gains in the 15q11–13 chromosomal region. Using quantitative retrospective natural history modeling (QUARNAM) of data from 306 individuals, the study reports an overall survival rate of 88.7%, with a median age at disease onset of 5.5 months and a median diagnostic delay of 156 months. Key clinical features include seizures in 48.2% of patients—75% of whom develop refractory epilepsy—global developmental delay in 95.4%, autistic features in 89%, and muscular hypotonia in 60%. The findings aim to refine the clinical spectrum of Dup15q syndrome and establish endpoints for future research. [Extracted from the article] |
| Βάση Δεδομένων: | Academic Search Index |
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