Obstructive Sleep Apnoea in Children and Adolescents with Ehlers-Danlos Syndrome

Abstract

Background: In Ehlers-Danlos syndrome (EDS), a group of monogenic disorders affecting connective tissues, obstructive sleep apnoea (OSA) is highly prevalent in adults. The prevalence of OSA in children with EDS is unknown. Objectives: This prospective cross-sectional study aimed at determining the prevalence of OSA in paediatric EDS patients. Methods: Children with EDS (n = 24) were recruited from the Children’s Hospital Zurich and matched to healthy controls. Participants completed home respiratory polygraphy and questionnaires (Sleep-Related Breathing Disorder Scale [SRBD], Epworth Sleepiness Scale [ESS], and Child Health Questionnaire [CHQ]). The American Academy of Sleep Medicine criteria were applied for OSA diagnosis (obstructive apnoea-hypopnoea index [oAHI] ≥1/h). Conditional logistic regression was used to compare the prevalence of OSA and to adjust for possible confounding. Results: OSA was found in 42% of paediatric EDS patients and in 13% of matched controls (OR = 4.5, 95% CI = 0.97–20.83, p = 0.054). The median oAHI was higher in EDS patients than in controls (0.77/h, IQR = 0.19–1.76, vs. 0.24/h, IQR = 0.0–0.60, p < 0.001 adjusted for age, sex, and BMI z-score). EDS patients had lower scores in most CHQ scales and higher SRBD and ESS scores than controls (0.26, IQR = 0.1–0.35, vs. 0.07, IQR = 0–0.19, p = 0.004); 7 ± 4 vs. 5 ± 4, p = 0.033, respectively). Conclusion: OSA is a previously underestimated EDS-related complication increasing disease burden.

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

“…The discreetly high incidence of chronic fatigue observed in our cEDS cohort is in line with previous observations that emphasized that in EDS this issue is more common than in the general population and likely contributes to the patients’ functional impairment, psychological distress, and decreased QoL [ 86 – 89 ]. Like in the general population, in cEDS fatigue is multifactorial with contributing factors including articular pain, headache, sleep disturbance, and abnormally low blood pressure often associated with postural orthostatic tachycardia syndrome (POTS) or neurally mediated hypotension (NMH), nutritional deficiency, medications, and/or allergies (present in 32% of our patients) [ 80 , 81 , 87 , 90 – 95 ]. Cerebrospinal fluid leak, which has been reported in cEDS as a cause of postural hypotension and headache [ 96 ], was not diagnosed in our cohort (e.g.…”

Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes

“…[203][204][205] In 26% to 42% of children and 32% of adults, obstructive sleep apnea has been reported. 203,206,207 Psychological manifestations of hEDS have been focused mainly on anxiety and depression, which have both been described in hEDS/JHS patient population. [208][209][210] It is unknown whether these are a result of living with a chronic disorder and pain, or if there is another explanation for the relationship.…”

“…Sleep problems such as insomnia and poor sleep quality are common in children and adults with hEDS 203‐205 . In 26% to 42% of children and 32% of adults, obstructive sleep apnea has been reported 203,206,207 . Psychological manifestations of hEDS have been focused mainly on anxiety and depression, which have both been described in hEDS/JHS patient population 208‐210 .…”

Updates on the psychological and psychiatric aspects of the Ehlers–Danlos syndromes and hypermobility spectrum disorders

“…These findings are in line with another study (Muriello et al, 2018) that found that both pain and poor sleep quality negatively impacted the quality of life of these patients. Stoberl et al (2019) studied OSA in children and adolescents with EDS and found an estimated prevalence of 42% and concluded that OSA is highly prevalent in children with EDS but is underestimated which increased the disease burden. Domany and his group (Domany et al, 2018) also studied sleep disorder in pediatric populations with EDS and not surprisingly, results showed a high prevalence of OSA but also insomnia, periodic limb movement disorder, and hypersomnia in EDS children.…”