Obstructive sleep apnea in children and adolescents with Ehlers-Danlos syndrome

Stöberl, Anna S.; Gaisl, Thomas; Sievi, Noriane A.; Singer, Florian; Moeller, Alexander; Rohrbach, Marianne; Kohler, Malcolm; Giunta, Cecilia

doi:10.1183/1393003.congress-2017.pa3335

Cited by 3 publications

(5 citation statements)

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“…Three studies among the EDS group were unclear as to whether their sample was from a sleep clinic or another setting. Among the three studies that clearly were not from sleep clinics (in addition to the unpublished study), 10,15,17 OSA prevalence ranged from 32.0% to 42.0% (average prevalence rate = 32.3%; P < .001), somewhat lower than the rate reported when including all studies, but still much higher than in general community samples of individuals without EDS. A more variable prevalence, ranging from 26.0% to 100%, was found among the three remaining studies that potentially included individuals from sleep clinics (average prevalence rate = 70.6%; P = .40).…”

Section: Referral Source and Osa Prevalencementioning

confidence: 66%

“…[10][11][12] Two other publications used self-reports to assess OSA and were thus eliminated. 8,12 Finally, unpublished data were available by Gaisl and colleagues; thus, a total of seven EDS studies (four published articles, two posters, and one unpublished data set) representing 875 individuals were included in the final analysis 10,11,[13][14][15][16][17] (Table 1). In the MFS group, 7 of 13 identified studies were excluded for the following reasons: being a case report, [18][19][20] being part of a larger study, 21,22 or reporting on only individuals with severe OSA for surgery and thus representing a significant selection bias.…”

Section: Study Extractionmentioning

confidence: 99%

“…In the EDS group, one study included both children and adults, 14 whereas two others reported mean ages but failed to specify age range and were thus excluded. 10,13 Thus, two studies included children totaling 89 children 16,17 and one study included 100 adults. 15 There was no observable difference in OSA in children (prevalence ranging from 26% to 42%; weighted average rate was 32.1% [95% CI 19.1-48.8; P = .04]) 16,17 versus adults (weighted average prevalence of 31% [23.7-39.5; P < .001]).…”

Section: Age Group and Osa Prevalencementioning

confidence: 99%

“…10,13 Thus, two studies included children totaling 89 children 16,17 and one study included 100 adults. 15 There was no observable difference in OSA in children (prevalence ranging from 26% to 42%; weighted average rate was 32.1% [95% CI 19.1-48.8; P = .04]) 16,17 versus adults (weighted average prevalence of 31% [23.7-39.5; P < .001]). 15 In the MFS group, only one study included both children and adults (using an apnea-hypopnea index [AHI] cutoff of 5 events/h) but reported subgroups of child patients with OSA using different AHI cutoffs (other studies used AHI > 1 event/h in children and > 5 events/h in adults).…”

Section: Age Group and Osa Prevalencementioning

confidence: 99%

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Prevalence of Obstructive Sleep Apnea in Joint Hypermobility Syndrome: A Systematic Review and Meta-Analysis

Sedky

Gaisl

Bennett

2019

Journal of Clinical Sleep Medicine

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Study Objectives: Because of associated abnormalities affecting connective tissue in various organs including airways, hypermobility syndrome has been associated with high risk for the development sleep apnea. Ehlers-Danlos syndrome (EDS) and Marfan syndrome (MFS) represent the most common hypermobility syndromes; therefore, the purpose of this review was to examine the prevalence of obstructive sleep apnea (OSA) in these populations. Methods: All publications and poster presentations written in English found through August 2018 that describe the prevalence of sleep apnea among people with EDS or MFS were included. Results: A total of 13 studies were identified, 7 for EDS and 6 for MFS. A combined random prevalence rate of OSA across both populations was 48.9% (95% confidence interval 38.3-59.6), with a slightly higher rate of 59.7% (39.7-77.0) for MFS versus 39.4% (28.8-51.1) for EDS. However, a high degree of heterogeneity across studies was found in both groups (EDS group: Q = 28.6 and I 2 = 79.0; MFS group: Q = 37.1 and I 2 = 86.5). When directly compared to the general population, patients with EDS/MFS were on average six times more likely (odds ratio 6.28 [95% confidence interval 3.31-11.93], P < 0.001, Z = 5.61) to have a diagnosis of OSA. Conclusions: OSA is a previously underestimated EDS/MFS-related complication. The high prevalence of OSA might be the result of bony and soft-tissue abnormalities associated with these hypermobility syndromes. Untreated OSA is thought to worsen cardiovascular complications especially among those with MFS. Further research is needed to better delineate whether the prevalence of OSA is moderated by factors such as sex, body mass index, bony structure, and disorder subtype.

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Section: Referral Source and Osa Prevalencementioning

confidence: 66%

Section: Study Extractionmentioning

confidence: 99%

Section: Age Group and Osa Prevalencementioning

confidence: 99%

Section: Age Group and Osa Prevalencementioning

confidence: 99%

See 2 more Smart Citations

Prevalence of Obstructive Sleep Apnea in Joint Hypermobility Syndrome: A Systematic Review and Meta-Analysis

Sedky

Gaisl

Bennett

2019

Journal of Clinical Sleep Medicine

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“…OSA severity was associated with daytime sleepiness and lower quality of life(61). OSA is prevalent in 24 school-aged children with EDS (42%)(62). A retrospective review of medical records and PSG tests in 65 children with EDS <18-year-old showed a high prevalence of sleep disorders, including OSA (26%)(63).…”

mentioning

confidence: 99%

Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders

Zaffanello¹,

Antoniazzi²,

Tenero³

et al. 2018

Ann. Transl. Med.

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Childhood obstructive sleep apnea syndrome (OSAS) is characterized by anatomical and functional upper airway abnormalities as pathophysiological determinants, and clinical symptoms are frequently clear. OSAS is widely described in rare genetic disorders, such as achondroplasia, Down syndrome, Prader-Willi syndrome, Pierre Robin sequence, and mucopolysaccharidosis. Craniofacial and upper airway involvement is frequently morbid conditions. In children with genetic diseases, the clinical symptoms of OSAS are often slight or absent, and related morbidities are usually more severe and can be observed at any age. The present review is aimed to updating the discoveries regarding OSAS on Achondroplasia, Down syndrome, Prader-Willi syndrome, Pierre Robin sequence, Sickle cell disease, or encountered in our clinical practice (Ehlers-Danlos syndrome, Ellis-van Creveld syndrome, Noonan syndrome). Two additional groups of genetic disorders will be focused (mucopolysaccharidoses and osteogenesis imperfecta). The flowing items are covered for each disease: (I) what is the pathophysiology of OSAS? (II) What is the incidence/prevalence of OSAS? (III) What result from the management and prognosis? (IV) What are the recommendations? Considering the worries of OSAS, such as inattention and behavioural problems, daytime sleepiness, failure to thrive, cardiological and metabolic complications, the benefit of a widespread screening and the treatment in children with genetic diseases is undoubtful. The goals of the further efforts can be the inclusion of various genetic diseases into guidelines for the screening of OSAS, updating the shreds of evidence based on the research progression.

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