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

Background

Treacher Collins Syndrome (TCS) is a rare, congenital craniofacial syndrome. Its most characteristic feature is mandibular and midface hypoplasia. Due to malformations of the facial skeleton, airway abnormalities can also be observed, predisposing individuals to obstructive sleep apnoea (OSA). OSA in TCS may contribute to significant morbidity, including developmental delays, cardiovascular disorders and reduced quality of life.

Objectives

This narrative review aims to present the true prevalence of OSA and the treatment options for TCS patients. Additionally, the pathophysiology and diagnostic tools for this condition were briefly outlined.

Methods

The literature search included publications from PubMed, Scopus, Web of Science and Cochrane Library. The chosen period of time for these publications was 2000-2024.

Results

The results showed that OSA is a serious problem among TCS patients. Although there is no standardised treatment protocol, the primary methods often include mandibular distraction osteogenesis (MDO) and continuous positive airway pressure (CPAP). Approaches such as hypoglossal nerve stimulation (HNS) need further investigation, especially with longitudinal observations.

Conclusions

The development of treatment options seems to be promising, suggesting a favourable outlook for standardising the treatment protocols.