Prader Willi Syndrome and Obstructive Sleep Apnea: Co-occurrence in the Pediatric Population

Abstract

Background: A high prevalence of obstructive sleep apnea (OSA) occurs in children with Prader-Willi syndrome (PWS). Yet, due in part to the relatively small samples previously used, the prevalence of OSA has varied greatly across studies. It is also unclear if factors such as age, gender, body mass index (BMI), or type of genetic imprinting are associated with increased risk for OSA among children with PWS. Objectives: To evaluate the (a) prevalence of OSA, as well as narcolepsy, in pediatric populations diagnosed with PWS; (b) effects of age, gender, body mass index, and genetic imprinting on OSA severity; and (c) effi cacy of adenotonsillectomy (AT) for decreasing OSA severity in this population. Methods: All studies assessing OSA among children with PWS through August 2013 were identifi ed using the PubMed/Medline, Psych Info, Cochrane library, and Google Scholar data bases. Results: Fourteen studies of children diagnosed with PWS and who were assessed for OSA using polysomnography (PSG) met inclusion criteria (n = 224 children). The prevalence of OSA across studies was 79.91% (n = 179/224). Among youths with OSA, 53.07% had mild OSA, 22.35% moderate OSA, and 24.58% severe OSA. Narcolepsy was found to occur in 35.71% of children with PWS. Adenotonsillectomy was associated with improvement in OSA for most children with PWS. However, residual OSA was present in the majority of cases post-surgery. Conclusion: This study confi rms the high prevalence of OSA and narcolepsy among children with PWS. Screening for OSA and narcolepsy among children with PWS is recommended. In addition, while adenotonsillectomy was effective in reducing OSA for some children, alternative treatments may need to be considered, given the only moderate response rate.

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

“…g) The majority of children with Prader-Willi syndrome have OSAS, mainly of mild severity and without reported symptoms [57]. Response to adenotonsillectomy is less favourable compared with children with OSAS but without Prader-Willi syndrome [57].…”

“…The majority of children with Prader-Willi syndrome have OSAS, mostly of mild severity (quantitative review) [57]. The severity of OSAS increases with younger age and higher body mass index (BMI) z-score [57]. Children younger than 2 years more frequently have central apnoeas than older children [58].…”

“…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]. The severity of OSAS increases with younger age and higher body mass index (BMI) z-score [57].…”

Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans

“…Patients with Prader-Willi have an altered hypercapnic arousal response. The prevalence of OSA in pediatric patients across 14 studies was 79% (51,52). rs4849682, showing suggestive significance with event duration, is located downstream of the insulin signaling gene INSIG2 (see Figure E20), a candidate OSA gene known to block the actions of sterol regulatory element binding protein (SREBP), which in turn mediates intermittent hypoxia-induced hyperlipidemia (21,53,54).…”

Sleep Disorders in Mentally Retarded Children

“…Проявления дневной сонливости нарастают по мере роста ребенка, увеличения массы тела. Повышенную дневную сонливость диагности-руют у 70% детей с синдромом Прадера-Вилли, и степень ее выраженности зависит от степени тяжести обструктив-ных апноэ во время сна [36,37]. Такое сочетание законо-мерно, поскольку частые ночные апноэ сопровождаются фрагментацией сна и снижением его эффективности [20].…”