Evaluation of sleep-disordered breathing and its relationship with respiratory parameters in children with mucopolysaccharidosis Type IVA and VI

Ademhan Tural D., EMİRALİOĞLU N., DOĞRU ERSÖZ D., Ozsezen B., Ipek O. F., SUNMAN B., ...More

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.185, no.8, pp.2306-2314, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 185 Issue: 8
  • Publication Date: 2021
  • Doi Number: 10.1002/ajmg.a.62229
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Applied Science & Technology Source, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.2306-2314
  • Keywords: enzyme replacement therapy, mucopolysaccharidosis, obstructive sleep apnea, polysomnography, pulmonary function, ENZYME REPLACEMENT THERAPY, PULMONARY-FUNCTION, HUNTERS SYNDROME, APNEA, AGE, MANAGEMENT, EXERCISE, VALUES
  • Hacettepe University Affiliated: Yes


The aims of the study were to evaluate the prevalence of sleep-disordered breathing (SDB) by using polysomnography (PSG) in children with MPS IVA and MPS VI who underwent enzyme replacement therapy (ERT) and to analyze the effect on SDB of having upper airway surgery, pulmonary functions, and exercise capacity. A retrospective cross-sectional study was conducted on patients with MPS IVA (n:17) and MPS VI (n:11) aged under 19 years who underwent polysomnography. Descriptive and nonparametric analyses were performed for demographic, PSG, pulmonary function and exercise capacity variables. The frequency of sleep apnea in the study sample was 85.7% (24/28). Four patients (14.3%) had no sleep apnea, 15 (53.6%) had mild, and nine (32.1%) had moderate-to-severe sleep apnea. Two patients (7.1%) had central sleep apnea and 22 had obstructive sleep apnea (OSA) (78.6%). Forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) were negatively correlated to apnea-hypopnea index (AHI) (r = -0.594, p = .009; r = -0.636, p = .005, respectively). Despite ERT and previous upper airway surgery, the prevalence of OSA was high in patients with MPS IVA-MPS IV, emphasizing the importance of PSG screening for sleep disorders. Pulmonary function tests may be useful for predicting sleep apnea in patients with MPS IVA and MPS VI.