Obstructive Sleep Apnoea in Patients with Treacher Collins Syndrome-A Narrative Review

Area of Science:

• Craniofacial Medicine
• Sleep Medicine
• Genetics

Background:

• Treacher Collins Syndrome (TCS) is a rare congenital disorder characterized by mandibular and midface hypoplasia.
• Facial skeleton malformations in TCS frequently lead to airway abnormalities, increasing the risk of obstructive sleep apnoea (OSA).
• OSA in TCS patients can cause significant morbidity, impacting development, cardiovascular health, and overall quality of life.

Purpose of the Study:

• To determine the prevalence of OSA in Treacher Collins Syndrome patients.
• To review current and emerging treatment options for OSA in TCS.
• To briefly outline the pathophysiology and diagnostic methods for OSA in this population.

Main Methods:

• A narrative review of literature published between 2000 and 2024.
• Searches were conducted across major databases: PubMed, Scopus, Web of Science, and Cochrane Library.

Main Results:

• Obstructive sleep apnoea is a prevalent and serious condition among individuals with Treacher Collins Syndrome.
• Primary treatment modalities include mandibular distraction osteogenesis (MDO) and continuous positive airway pressure (CPAP).
• Emerging treatments like hypoglossal nerve stimulation (HNS) require further investigation with long-term studies.

Conclusions:

• Treatment strategies for OSA in TCS are evolving, with promising developments towards standardized protocols.
• The outlook for managing OSA in Treacher Collins Syndrome is positive, with ongoing research enhancing therapeutic options.