Gözde UZUNYAYLA, Fehime Erdem KARAPINAR, Nihat GÜNEŞ, Tuğba Ramaslı GÜRSOY
The Journal of Pediatric Research - 2026;13(1):72-79
Aim: Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs) in various tissues. Particularly, the accumulation of GAGs in the soft tissues of the head and neck region contributes to obstructive respiratory problems and sleep disturbances. This study aimed to evaluate sleep-related respiratory symptoms in patients with different subtypes of MPS. Materials and Methods: This study included 25 patients diagnosed with MPS. The patients were evaluated in terms of their MPS subtypes, age, gender, duration of enzyme replacement therapy (ERT), and sleep questionnaire scores. Sleep-related respiratory problems were assessed using the "Pediatric Sleep Questionnaire: Sleep-Disordered Breathing (SDB) Subscale." A mean score above 0.33 on the 22-item questionnaire was considered indicative of SDB. Results: This study included 25 patients diagnosed with MPS I (n=8), MPS II (n=1), MPS IIIA (n=2), MPS IIIB (n=2), MPS IVA (n=3), and MPS VI (n=9). Six patients were not receiving ERT. The median score on the Pediatric Sleep Questionnaire: SDB Subscale was 0.27 (range: 0.15-0.56). Eleven patients (44%) had SDB. No significant differences were found in the sleep questionnaire scores based on the patients' MPS subtype (p>0.05). There was no correlation between ERT duration, age, and the sleep questionnaire scores. Polysomnography (PSG) was planned for those patients with SDB. Conclusion: In our study, we found that approximately half of the patients diagnosed with MPS had SDB. MPS patients should be routinely evaluated for sleep-related respiratory problems during follow-up visits, and those with symptoms of SDB should undergo PSG.
