Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum
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...
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BMC
2025-05-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-025-03717-0 |
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| author | 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 Sérgio B. Sousa |
| author_facet | 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 Sérgio B. Sousa |
| author_sort | Brigitte Fauroux |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-cbf99ce19ba5499b89b686711688feef |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-cbf99ce19ba5499b89b686711688feef2025-08-20T03:53:58ZengBMCOrphanet Journal of Rare Diseases1750-11722025-05-012011910.1186/s13023-025-03717-0Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia ForumBrigitte Fauroux0Moeenaldeen AlSayed1Tawfeg Ben-Omran2Silvio Boero3Mieke Boon4Valérie Cormier-Daire5Svein Fredwall6Encarna Guillen-Navarro7Melita Irving8Philip Kunkel9Núria Madureira10Mohamad Maghnie11Josef Milerad12Klaus Mohnike13Geert Mortier14Lino Nobili15Zagorka Pejin16Marco Sessa17Sérgio B. Sousa18AP-HP Necker-Enfants Malades University Hospital and Paris Cité University, and EA 7330 VIFASOM, Paris UniversityKing Faisal Specialist Hospital and Research Centre in RiyadhDivision of Genetics and Genomic Medicine, Sidra Medicine & Hamad Medical CorporationIstituto Giannina GasliniDepartment of Pediatrics, University Hospital LeuvenAP-HP Necker-Enfants Malades University Hospital and Paris Cité University, and EA 7330 VIFASOM, Paris UniversityTRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation HospitalMedical Genetics Division & Pediatrics Department, Virgen de la Arrixaca University Hospital, IMIB-Pascual Parrilla, University of Murcia, CIBERER-ISCIIIGuy’s and St Thomas’ NHS Foundation TrustUniversity Medical Centre MannheimHospital Pediátrico de Coímbra, Unidade Local de Saúde de CoímbraIRCCS Istituto Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, and Pediatric Endocrinology Unit, IRCCS Giannina GasliniPaediatric Sleep Research Unit, Astrid Lindgren´S Children’s HospitalChildren’s Hospital, Otto-Von-Guericke-UniversityCenter for Human Genetics, University Hospitals Leuven and KU LeuvenIRCCS Istituto G. Gaslini, DiNOGMI, University of GenoaAP-HP Necker-Enfants Malades University Hospital and Paris Cité University, and EA 7330 VIFASOM, Paris UniversityItalian Association on AchondroplasiaHospital Pediátrico de Coímbra, Unidade Local de Saúde de CoímbraAbstract 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.https://doi.org/10.1186/s13023-025-03717-0AchondroplasiaEuropean Achondroplasia ForumObstructive sleep apnoeaCentral sleep apnoeaAlveolar hypoventilationConsensus |
| spellingShingle | 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 Sérgio B. Sousa Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum Orphanet Journal of Rare Diseases Achondroplasia European Achondroplasia Forum Obstructive sleep apnoea Central sleep apnoea Alveolar hypoventilation Consensus |
| title | Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum |
| title_full | Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum |
| title_fullStr | Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum |
| title_full_unstemmed | Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum |
| title_short | Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum |
| title_sort | management of sleep disordered breathing in achondroplasia guiding principles of the european achondroplasia forum |
| topic | Achondroplasia European Achondroplasia Forum Obstructive sleep apnoea Central sleep apnoea Alveolar hypoventilation Consensus |
| url | https://doi.org/10.1186/s13023-025-03717-0 |
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