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 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.

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Publication Details

Journal
Orphanet Journal of Rare Diseases
Published
2025-05-15
DOI
https://doi.org/10.1186/s13023-025-03717-0
Citations
2
Primary Topic
Obstructive Sleep Apnea Research
Type
article
Field-Weighted Citation Impact
2.33

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article

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

Philip Kunkel, Valérie Cormier‐Daire, J Milerad, Svein O. Fredwall et al.
2 citations
Orphanet Journal of Rare Diseases
Obstructive Sleep Apnea Research
2.33
article

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

Philip Kunkel, Valérie Cormier‐Daire, J Milerad, Svein O. Fredwall, Mohamad Maghnie, Zagorka Péjin, Geert R. Mortier, Lino Nobili, Moeenaldeen AlSayed, Melita Irving, Mieke Boon, Klaus L. Mohnike, Encarna Guillén‐Navarro, Marco Sessa, Brigitte Fauroux, Silvio Boero, Tawfeg Ben‐Omran, Sérgio B. Sousa, Núria Madureira
article en
2 citations

Abstract

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.

Orphanet Journal of Rare DiseasesVol. 20(1)
Hôpital Necker-Enfants Malades (FR), Guy's and St Thomas' NHS Foundation Trust (GB), Université Paris Cité (FR), Sunnaas sykehus (NO), King Faisal Specialist Hospital & Research Centre (SA), Istituto Giannina Gaslini (IT), Hospitais da Universidade de Coimbra (PT), Institut Necker Enfants Malades (FR), Université Sorbonne Paris Nord (FR), Assistance Publique – Hôpitaux de Paris (FR), Italian Association for Cancer Research (IT), Sachs' Children and Youth Hospital (SE), Instituto Murciano de Investigación Biosanitaria (ES), Hospital Universitario Virgen de la Arrixaca (ES), University Medical Centre Mannheim (DE), Hamad Medical Corporation (QA), Otto-von-Guericke-Universität Magdeburg (DE), KU Leuven (BE)
Sanofi, BioMarin Pharmaceutical
Partnerships for the goals
Openalex Percentile: Top 12%
Obstructive Sleep Apnea Research
2.33
DOIOpen Access PDFOpenAlex
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