The silent threat in mucopolysaccharidosis: assessment of sleep quality and disorders

Mucopolysaccharidoses (MPS) are disease characterized by the accumulation of glycosaminoglycans, which leads to involvement of multiple systems. Respiratory involvement can lead to obstructions, causing difficulties with daily vital functions and sleep problems. This study aims to assess the sleep quality and disorders of patients with MPS using questionnaires.

The study comprised 24 patients diagnosed with MPS and 44 healthy children aged between 6 and 18 years. Patients' age, gender, height, weight, MPS subtype, age at diagnosis, enzyme replacement therapy status, and respiratory system findings (recurrent infections, snoring, adenotonsillar hypertrophy) were recorded. The Sleep Disturbance Scale for Children (SDSC) and the Pittsburgh Sleep Quality Index (PSQI) questionnaires were administered to both groups in order to assess sleep quality and disorders.

According to the SDSC, sleep onset and maintenance disorders, sleep breathing disorders, sleep-wake transition disorders, excessive sleepiness disorders, sleep hyperhidrosis, and the total SDSC scores were higher in the patient group. According to the PSQI, sleep quality, sleep disturbance, daytime dysfunction, and the total PSQI scores were higher in the patient group. No significant differences were found in SDSC and PSQI total scores according to MPS subtypes.

Sleep problems are frequently unnoticed, yet they can have a considerable impact on the quality of life of patients with MPS. In this context, the SDSC and PSQI questionnaires can be utilized to swiftly and cost-effectively screen for sleep problems in patients with MPS. This facilitates the timely identification of sleep disorders, thus enabling the implementation of appropriate preventative measures.