Polysomnographic characteristics in patients with mucopolysaccharidoses

Abstract

To evaluate the prevalence of obstructive sleep apnea (OSA) and to clarify sleep characteristics in patients with mucopolysaccharidoses (MPS), we performed overnight polysomnographic studies in 24 patients (22 males and 2 females; 3 with MPS I, 15 with MPS II, 1 with MPS III, 1 with MPS IV, and 4 with MPS VI; mean age, 10.8 ± 6.0 years; age range, 2.0-23.7 years; 2 patients ≥18 years of age). The nadir arterial oxygen saturation (SaO(2) ) was 74.5 ± 12.3%, and the average percentage of sleep time with an SaO(2) of <95% was 39.4%. The percentages of total sleep time spent in sleep stages N1, N2, N3, and R were 18.6 ± 10.8%, 50.3 ± 7.6%, 14.8 ± 8.1%, and 15.3 ± 4.6%, respectively. The respiratory disturbance index (RDI) was 21.8 ± 20.4/hr, and obstructive apnea-hypopnea index (OAHI) and central apnea index were 21.4 ± 19.9/hr and 0.4 ± 0.6/hr, respectively. The desaturation index was 17.6 ± 17.8/hr. All patients had some degree of OSA. For 22 children, the disorder was mild (OAHI 1.5-5) in 2, moderate (OAHI 5-10) in 7, and severe (OAHI > 10) in 13. Two patients with MPS II who received enzyme replacement therapy had reductions in RDI after treatment (38.9-10.8 and 3.5-2.0, respectively). The prevalence of moderate to severe OSA was 88% (21/24) in patients with MPS. The overnight polysomnography will help to determine the abnormalities of breathing during sleep more precisely and urge the clinicians to take necessary action for patients with severe manifestations.

Mucopolysaccharidosis I: Parental beliefs about the impact of disease on the quality of life of their children

“…Those with children with attenuated phenotypes reported limited impact on breathing, hearing or mobility into adolescence whilst those with more severe Hurler's phenotypes described life limiting airway disease, including both CPAP and oxygen dependence in their late teens. These accounts from a small sample are consistent with the literature which confirms that the severity of the OSA worsens with age, with poorer polysomnography scores seen in post-pubescent patients [21].…”

Obstructive sleep disordered breathing in 2- to 18-year-old children: diagnosis and management

“…Ehlers-Danlos syndrome has been associated with SDB (class IV) [53]. Mucopolysaccharidoses represent a group of rare lysosomal storage diseases and the reported high prevalence of OSAS has been attributed to the narrowed upper airway lumen (class IV) [54][55][56]. The majority of children with Prader-Willi syndrome have OSAS, mostly of mild severity (quantitative review) [57].…”

Obstructive Sleep Apnea Syndrome in Children With Type Ii Mucopolysaccharidosis (Hunter Syndrome)

“…CD I or II A (in the event of concomitant therapy) did not aggravate OSAS (the average AHI value at CD I was 6.2±9.2 per hour, at CD II A -4.6±4.7 per hour), SpO 2 decrease (the average SpO 2 values at CD I was 84.5±14.6%, at CD II A -89.3±4.3%) or DI increase (the average DI value at CD I was 9.3±9.2 per hour, at CD II A -13.8±18.2 per hour) in children with secondary cardiomyopathy (tb. 11,12). By the time of the first trial 4 children with Hunter syndrome had been undergoing enzyme replacement therapy for 7-12 months (drug Elaprase, Shire Human Genetic Therapies, Inc., USA); in 13 children the first trial had taken place before ERT: we did not reveal any significant differences between AHI, SpO 2 and DI values observed in different groups (p>0.05); it may have been caused by insufficient ERT duration (tb.…”

“…However, spread and peculiarities of OSAS course in children with type II mucopolysaccharidosis have been studied extremely insufficiently as yet. Still, the data accumulated throughout the last decade indicate that obstructive sleep apnea increases risk of mortality of cardiovascular complications and may be an independent risk factor of sudden cardiac death in this category of patients [11][12][13]. The aim of our trial was to determine spread of OSAS and dynamics of its course changes depending on the severity of affection of different organs in children with type II mucopolysaccharidosis.…”