Polysomnographic Analysis of Sleep-Disordered Breathing In Children With Mucopolysaccharidoses in Qatar: A Retrospective Study.

Background:  Sleep-disordered breathing (SDB) represents a critical complication in mucopolysaccharidoses (MPSs), with a reported global prevalence rate of 80%-90%. The multifactorial pathophysiology involves glycosaminoglycan deposition in upper airway tissues and complex skeletal alterations. Although SDB is frequently encountered among MPS patients, details on its prevalence and characteristics remain unknown in Qatar. This study highlights different aspects of SDB in our population.

Methods:  A retrospective chart review study was conducted on patients with a confirmed diagnosis of MPS aged one to 18 between September 2019 and July 2023 who underwent polysomnography (PSG) study at Sidra Medicine (Doha, Qatar). Clinical and PSG data were collected and summarized.

Results:  The cohort comprised 14 patients (50% male; mean age 8.2 years (range: 1.42-18.8); mean BMI 21.63 kg/m2 (range: 13.47-42.1)). Obstructive sleep apnea (OSA) prevalence was 78.57% (11/14), with severity distribution as follows: mild (27.27%), moderate (27.27%), and severe (45.45%). Mean obstructive apnea-hypopnea index (OAHI) was 13.48 events/hour. Therapeutic interventions included adenotonsillectomy (eight of 14) and non-invasive positive airway pressure support (six of 14). None of the patients required tracheostomy.

Conclusions: This first comprehensive analysis of SDB in Qatar's pediatric MPS population reveals high prevalence and severity rates comparable to international cohorts. These results emphasize the crucial need for polysomnographic screening and early therapeutic intervention in this population. Future prospective studies should evaluate short and long-term treatment outcomes and explore potential genotype-phenotype correlations in this demographically distinct cohort.