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Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum

Due to the craniofacial anatomy of people with achondroplasia, sleep-disordered breathing (SDB) occurs more frequently than in the average stature population. SDB, which comprises obstructive sleep apnoea (OSA), more rarely central sleep apnoea (CSA), and nocturnal alveolar hypoventilation (NH), may...

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Main Authors: Fauroux, Brigitte (Author) , AlSayed, Moeenaldeen (Author) , Ben-Omran, Tawfeg (Author) , Boero, Silvio (Author) , Boon, Mieke (Author) , Cormier-Daire, Valérie (Author) , Fredwall, Svein (Author) , Guillen-Navarro, Encarna (Author) , Irving, Melita (Author) , Kunkel, Philip Oskar Sean (Author) , Madureira, Núria (Author) , Maghnie, Mohamad (Author) , Milerad, Josef (Author) , Mohnike, Klaus (Author) , Mortier, Geert (Author) , Nobili, Lino (Author) , Pejin, Zagorka (Author) , Sessa, Marco (Author) , Sousa, Sérgio B. (Author)
Format: Article (Journal)
Language:English
Published: 15 May 2025
In: Orphanet journal of rare diseases
Year: 2025, Volume: 20, Pages: 1-9
ISSN:1750-1172
DOI:10.1186/s13023-025-03717-0
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1186/s13023-025-03717-0
Verlag, kostenfrei, Volltext: https://ojrd.biomedcentral.com/articles/10.1186/s13023-025-03717-0
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Author Notes:Brigitte Fauroux, Moeenaldeen AlSayed, Tawfeg Ben-Omran, Silvio Boero, Mieke Boon, Valérie Cormier-Daire, Svein Fredwall, Encarna Guillen-Navarro, Melita Irving, Philip Kunkel, Núria Madureira, Mohamad Maghnie, Josef Milerad, Klaus Mohnike, Geert Mortier, Lino Nobili, Zagorka Pejin, Marco Sessa and Sérgio B. Sousa
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Summary:Due to the craniofacial anatomy of people with achondroplasia, sleep-disordered breathing (SDB) occurs more frequently than in the average stature population. SDB, which comprises obstructive sleep apnoea (OSA), more rarely central sleep apnoea (CSA), and nocturnal alveolar hypoventilation (NH), may present at any age in patients with achondroplasia. Untreated SDB is associated with neurocognitive dysfunction, cardiovascular, and metabolic complications in children and adults. There continues to be debate on the optimal assessment and management of SDB in achondroplasia. To help address this, the European Achondroplasia Forum (EAF), a network of clinicians and patient advocates representative of the achondroplasia clinical community, organised a virtual workshop in October 2023 to scrutinise, vote and agree upon five guiding principles for managing SDB in achondroplasia. This workshop was attended by 40 healthcare professionals, including clinical geneticists, general practitioners and consultants, orthodontic and orthopaedic surgeons, paediatricians, paediatric endocrinologists and pulmonologists, sleep researchers and specialists, and two patient advocacy group representatives. The five guiding principles focus on lifelong assessment and proactive management, incorporating individualised sleep studies, screening, and a stepwise approach to therapeutic management. The EAF was in favour of all guiding principles, with all achieving 100% consensus with high levels of agreement (range 8.9-9.7/10). In developing guiding principles for the management of SDB in achondroplasia, the EAF aims to facilitate optimal screening and management of SDB in infants, young children, and adults with achondroplasia.
Item Description:Gesehen am 01.09.2025
Physical Description:Online Resource
ISSN:1750-1172
DOI:10.1186/s13023-025-03717-0

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