Severe upper airway dysfunction in GNAO1-related disorders
Upper airway dysfunction significantly contributes to the high morbidity and mortality in GNAO1-RD patients. Current therapeutic options are limited; while DBS can be life-saving during acute crises, it does not address swallowing or airway dysfunction effectively. Multimodal approaches and larger, multicenter trials are needed to improve outcomes for these patients.
Authors
- Anne Koy (ORCID: https://orcid.org/0000-0002-7991-4432)
- Iván O. Espinoza (ORCID: https://orcid.org/0000-0001-8017-0058)
- Jana Domínguez‐Carral (ORCID: https://orcid.org/0000-0002-7197-7391)
- Juan Darío Ortigoza‐Escobar (ORCID: https://orcid.org/0000-0002-6320-2641)
- Katerina Bernardi (ORCID: https://orcid.org/0009-0004-3387-7623)
- Moritz Thiel (ORCID: https://orcid.org/0000-0003-0019-3060)
- Lorena Diaz Mendo (ORCID: https://orcid.org/0009-0002-7659-0601)
Institutions
- Hospital Sant Joan de Déu Barcelona (ES)
- University of Cologne (DE)
- Universidad Peruana Cayetano Heredia (PE)
- Instituto de Salud Carlos III (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- University Hospital Cologne (DE)
- Institut de Recerca Sant Joan de Déu
- Sapienza University of Rome (IT)
Publication Details
- Journal
- The Italian Journal of Pediatrics/Italian journal of pediatrics
- Published
- 2025-10-28
- DOI
- https://doi.org/10.1186/s13052-025-02150-0
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Universität zu Köln