Lower respiratory rate during sleep in children with Angelman syndrome compared to age-matched controls
Our study provides the first long-term observational evidence of a persistent bradypnea-like phenotype in individuals with AS, which may have significant implications for their clinical management. The successful use of the sleep mat device as a non-invasive physiological ambulatory monitoring tool demonstrates its potential as a digital health technology for detecting respiratory abnormalities in pediatric neurodevelopmental disorders. These findings should be further assessed and may have biomarker and clinical utility in AS, particularly in relation to seizure management and cognitive development.
Authors
- Joerg F. Hipp (ORCID: https://orcid.org/0000-0002-7875-2988)
- David Nobbs (ORCID: https://orcid.org/0000-0003-3445-9146)
- Alexander Rotenberg (ORCID: https://orcid.org/0000-0002-6495-5928)
- Ponghatai Boonsimma (ORCID: https://orcid.org/0000-0002-2414-7010)
- Katalin Buzási
- Leo Gschwind
- Florian Lipsmeier (ORCID: https://orcid.org/0000-0002-8663-819X)
- Sebastian C. Holst (ORCID: https://orcid.org/0000-0003-3657-4535)
- Vitaliy Kolodyazhniy
Institutions
- Budapest University of Economics and Business (HU)
- Roche (Switzerland) (CH)
- Boston Children's Hospital (US)
- Harvard University (US)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-04-08
- DOI
- https://doi.org/10.1186/s13023-025-03553-2
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Angelman Syndrome Foundation
- Biogen
- F. Hoffmann-La Roche
- Foundation for Angelman Syndrome Therapeutics
- Ionis Pharmaceuticals