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Sleep‐disordered breathing in children with mucolipidosis
Author(s) -
Tabone Laurence,
Caillaud Catherine,
Amaddeo Alessandro,
Khirani Sonia,
Michot Caroline,
Couloigner Vincent,
Brassier Anais,
CormierDaire Valerie,
Baujat Geneviève,
Fauroux Brigitte
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61167
Subject(s) - medicine , continuous positive airway pressure , obstructive sleep apnea , apnea–hypopnea index , sleep study , ventilation (architecture) , anesthesia , mechanical ventilation , sleep (system call) , hypopnea , central sleep apnea , pediatrics , polysomnography , positive airway pressure , apnea , mechanical engineering , computer science , engineering , operating system
Mucolipidosis (ML) is a rare lysosomal storage disorder with a wide spectrum of disease severity according to the type. Sleep‐disordered breathing is recognized as a characteristic feature of ML but objective data are scarce. The aim of the study was to describe sleep data and medical management in children with ML α/β. All patients with ML α/β followed at a national reference center of ML were included. Five patients had ML II, one patient had ML III and one patient had ML II‐III. One patient was started on noninvasive ventilation (NIV) to allow extubation after prolonged invasive mechanical ventilation. The six other patients underwent sleep study at a median age of 1.8 years (range 4 months–17.4 years). Obstructive sleep apnea (OSA) was observed in all patients with a median apnea‐hypopnea index (AHI) of 36 events/hr (range 5–52) requiring continuous positive airway pressure (CPAP) or NIV. CPAP/NIV resulted in an improvement of nocturnal gas exchange and was continued in all patients with an excellent compliance. Two patients died. Systematic sleep studies are recommended at time of diagnosis in ML. CPAP or NIV are effective treatments of OSA, well tolerated, and may contribute to improve the quality of life of patients and caregivers.