Journal: Orphanet Journal of Rare Diseases (2025) 20:233
Authors: 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 Sessaand Sérgio B. Sousa.
License and source: This article is licensed under the Creative Commons Attribution 4.0 International License (CC BY 4.0).
https://creativecommons.org/licenses/by/4.0/
Original publication available via PubMed
Summery: The following summary and key takeaways were prepared by the C4B team to support understanding of the scientific publication and are intended for informational purposes only. They do not replace the original article or professional medical advice.
Achondroplasia increases risk of sleep-disordered breathing (SDB)—mainly obstructive sleep apnoea (OSA), less often central sleep apnoea (CSA), and nocturnal alveolar hypoventilation (NH)—across the lifespan because of craniofacial and chest differences. Untreated SDB causes neurocognitive, cardiovascular, metabolic, and growth problems and can raise sudden-death risk in infants. The European Achondroplasia Forum (EAF) convened experts and patient advocates, reached 100% consensus on five guiding principles: lifelong, proactive assessment; individualized choice of sleep study; routine screening with emphasis on early childhood; sleep studies scored by sleep specialists with MDT interpretation; and stepwise, age- and severity‑tailored therapy (surgery, CPAP/NIV, orthodontics, weight management). Systematic PSG or alternatives and multidisciplinary follow-up are recommended.
Key Take Aways:
This article will provide valuable insights into:
- Lifelong, proactive SDB screening is essential in achondroplasia.
- Use individualized sleep studies (PSG preferred); include PtcCO2 to detect NH.
- Focus screening in infancy/early childhood; PSG often required for diagnosis.
- Interpret results and manage care within an achondroplasia multidisciplinary team.
- Stepwise treatments: adenotonsillectomy/DISE, follow-up PSG, then CPAP/NIV, orthodontic or surgical options as needed.