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

Brigitte Fauroux¹, Moeenaldeen AlSayed², Tawfeg Ben-Omran³, Silvio Boero⁴, Mieke Boon⁵, Valérie Cormier-Daire⁶, Svein Fredwall⁷, Encarna Guillen-Navarro⁸, Melita Irving⁹, Philip Kunkel¹⁰, Núria Madureira¹¹, Mohamad Maghnie¹², Josef Milerad¹³, Klaus Mohnike¹⁴, Geert Mortier¹⁵, Lino Nobili¹⁶, Zagorka Pejin⁶, Marco Sessa¹⁷, Sérgio B Sousa¹¹

Affiliations

¹ AP-HP Necker-Enfants Malades University Hospital and Paris Cité University, and EA 7330 VIFASOM, Paris University, Paris, France. brigitte.fauroux@aphp.fr.
² King Faisal Specialist Hospital and Research Centre in Riyadh, Riyadh, Kingdom of Saudi Arabia.
³ Division of Genetics and Genomic Medicine, Sidra Medicine & Hamad Medical Corporation, Doha, Qatar.
⁴ Istituto Giannina Gaslini, Genoa, Italy.
⁵ Department of Pediatrics, University Hospital Leuven, Leuven, Belgium.
⁶ AP-HP Necker-Enfants Malades University Hospital and Paris Cité University, and EA 7330 VIFASOM, Paris University, Paris, France.
⁷ TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway.
⁸ Medical Genetics Division & Pediatrics Department, Virgen de la Arrixaca University Hospital, IMIB-Pascual Parrilla, University of Murcia, CIBERER-ISCIII, Murcia, Madrid, Spain.
⁹ Guy's and St Thomas' NHS Foundation Trust, London, UK.
¹⁰ University Medical Centre Mannheim, Mannheim, Germany.
¹¹ Hospital Pediátrico de Coímbra, Unidade Local de Saúde de Coímbra, Coimbra, Portugal.
¹² IRCCS Istituto Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, and Pediatric Endocrinology Unit, IRCCS Giannina Gaslini, Genoa, Italy.
¹³ Paediatric Sleep Research Unit, Astrid Lindgren´S Children's Hospital, Östgötagatan 100, Box 4700, 116 92, Stockholm, Sweden.
¹⁴ Children's Hospital, Otto-Von-Guericke-University, Magdeburg, Germany.
¹⁵ Center for Human Genetics, University Hospitals Leuven and KU Leuven, Leuven, Belgium.
¹⁶ IRCCS Istituto G. Gaslini, DiNOGMI, University of Genoa, Genoa, Italy.
¹⁷ Italian Association on Achondroplasia, Bari, Italy.

PMID: 40375310
PMCID: PMC12083049
DOI: 10.1186/s13023-025-03717-0

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

Brigitte Fauroux et al. Orphanet J Rare Dis. 2025.

. 2025 May 15;20(1):233.

doi: 10.1186/s13023-025-03717-0.

Authors

Affiliations

¹ AP-HP Necker-Enfants Malades University Hospital and Paris Cité University, and EA 7330 VIFASOM, Paris University, Paris, France. brigitte.fauroux@aphp.fr.
² King Faisal Specialist Hospital and Research Centre in Riyadh, Riyadh, Kingdom of Saudi Arabia.
³ Division of Genetics and Genomic Medicine, Sidra Medicine & Hamad Medical Corporation, Doha, Qatar.
⁴ Istituto Giannina Gaslini, Genoa, Italy.
⁵ Department of Pediatrics, University Hospital Leuven, Leuven, Belgium.
⁶ AP-HP Necker-Enfants Malades University Hospital and Paris Cité University, and EA 7330 VIFASOM, Paris University, Paris, France.
⁷ TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Nesodden, Norway.
⁸ Medical Genetics Division & Pediatrics Department, Virgen de la Arrixaca University Hospital, IMIB-Pascual Parrilla, University of Murcia, CIBERER-ISCIII, Murcia, Madrid, Spain.
⁹ Guy's and St Thomas' NHS Foundation Trust, London, UK.
¹⁰ University Medical Centre Mannheim, Mannheim, Germany.
¹¹ Hospital Pediátrico de Coímbra, Unidade Local de Saúde de Coímbra, Coimbra, Portugal.
¹² IRCCS Istituto Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, and Pediatric Endocrinology Unit, IRCCS Giannina Gaslini, Genoa, Italy.
¹³ Paediatric Sleep Research Unit, Astrid Lindgren´S Children's Hospital, Östgötagatan 100, Box 4700, 116 92, Stockholm, Sweden.
¹⁴ Children's Hospital, Otto-Von-Guericke-University, Magdeburg, Germany.
¹⁵ Center for Human Genetics, University Hospitals Leuven and KU Leuven, Leuven, Belgium.
¹⁶ IRCCS Istituto G. Gaslini, DiNOGMI, University of Genoa, Genoa, Italy.
¹⁷ Italian Association on Achondroplasia, Bari, Italy.

PMID: 40375310
PMCID: PMC12083049
DOI: 10.1186/s13023-025-03717-0

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.

Keywords: Achondroplasia; Alveolar hypoventilation; Central sleep apnoea; Consensus; European Achondroplasia Forum; Obstructive sleep apnoea; Sleep-disordered breathing.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: Not applicable. Consent for publication: Not applicable. Competing interest: BF: None to declare. MA: None to declare. TBO: None to declare. SB: Payment or honoraria for lectures, presentations, speaker’s bureaus, manuscript writing or educational events from BioMarin. Support for attending meetings and/or travel from BioMarin. Participation on a data safety monitoring board or advisory board from BioMarin. MB: All support for the present manuscript from CESAS Medical. VCD: Payment or honoraria for lectures, presentations, speaker’s bureaus, manuscript writing or educational events from BioMarin. Participation on a data safety monitoring board or advisory board from BioMarin. SF: None to declare. EGN: Payment or honoraria for lectures, presentations, speaker’s bureaus, manuscript writing or educational events from BioMarin. Support for attending meetings and/or travel from BioMarin. MI: Payment or honoraria for lectures, presentations, speaker’s bureaus, manuscript writing or educational events from the EAF. Support for attending meetings and/or travel from the EAF. PK: Payment or honoraria for lectures, presentations, speaker’s bureaus, manuscript writing or educational events from BioMarin. NM: None to declare. MM: Grant support from Pfizer, Novo Nordisk, and Merck Serono. Consulting fees and payment or honoraria for lectures, presentations, speaker’s bureaus, manuscript writing or educational events from Pfizer, Novo Nordisk, Sandoz, Merck Serono, and BioMarin. Participation on a data safety monitoring board or advisory board from Pfizer. JM: All support for the present manuscript from CESAS Medical. Support for attending meetings and/or travel from CESAS Medical. KM: All support for the present manuscript from BioMarin. Grants or contracts from any entity from BioMarin. Consulting fees from QEDBiobridge. Payment or honoraria for lectures, presentations, speaker’s bureaus, manuscript writing or educational events from BioMarin and Novo Nordisk. Participation on a data safety monitoring board or advisory board from QEDBiobridge. Leadership or fiduciary role in other board, society, committee, or advocacy group, paid or unpaid from BKMF e.V. GM: None to declare. LN: Consulting fees from Fidia Pharma, and Procter & Gamble. Receipt of equipment, materials, drugs, medical writing, gifts, or other services from Jazz Pharmaceuticals. ZP: Consulting fees from Orthofix Italy. Payment or honoraria for lectures, presentations, speaker’s bureaus, manuscript writing or educational events from Orthofix Italy and Newclip France. Support for attending meetings and/or travel from Orthofix Italy. MS: Grants or contracts from any entity from BioMarin and QEDBiobridge to AISAC. Payment for expert testimony from BioMarin and QEDBiobridge to Marco Sessa. Support for attending meetings and/or travel from BioMarin and QEDBiobridge to Marco Sessa and AISAC. Participation on a data safety monitoring board or advisory board from BioMarin to AISAC. SBS: Payment or honoraria for lectures, presentations, speaker’s bureaus, manuscript writing or educational events from BioMarin. Support for attending meetings and/or travel from BioMarin. Participation on a data safety monitoring board or advisory board from BioMarin

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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

References

MeSH terms

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Full Text Sources

Medical