Disordered breathing during sleep in patients with mucopolysaccharidoses

Area of Science:

• Pediatric Pulmonology
• Sleep Medicine
• Rare Genetic Diseases

Background:

• Obstructive sleep apnoea (OSA) is a known complication in children with mucopolysaccharidoses (MPS).
• The precise incidence and severity of OSA across different MPS types remain poorly understood.
• Objective measurement of OSA is needed for effective management.

Purpose of the Study:

• To objectively quantify the degree of OSA in children with various MPS syndromes.
• To compare OSA severity across different types of MPS.
• To evaluate the accuracy of clinical history in assessing OSA severity.

Main Methods:

• A cross-sectional study involving 26 children with MPS.
• Cardiopulmonary sleep studies were conducted during unsedated sleep over two years.
• OSA severity was scored using both clinical history and objective sleep study data.

Main Results:

• OSA was diagnosed in 24 out of 26 patients (92%), with severity ranging from mild to severe.
• OSA was most pronounced in MPS type I H (Hurler syndrome), followed by types I HS (Hurler-Scheie syndrome) and II (Hunter syndrome).
• Clinical history underestimated severe OSA in 5 cases and overestimated mild OSA in 4 cases, showing poor agreement (65%) with objective findings.

Conclusions:

• Obstructive respiratory issues are highly prevalent in MPS patients, with significant variation in OSA severity among MPS types.
• Clinical assessment alone is insufficient for accurately determining OSA severity in MPS.
• Objective sleep studies are essential for evaluating MPS patients, monitoring outcomes, and assessing therapeutic interventions.