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

Area of Science:

• Pediatric Sleep Medicine
• Genetics and Rare Diseases
• Connective Tissue Disorders

Background:

• Obstructive sleep apnoea (OSA) is prevalent in adults with Ehlers-Danlos syndrome (EDS).
• The prevalence and impact of OSA in pediatric EDS patients remain largely unknown.
• Ehlers-Danlos syndrome encompasses a group of inherited connective tissue disorders.

Purpose of the Study:

• To determine the prevalence of obstructive sleep apnoea (OSA) in children diagnosed with Ehlers-Danlos syndrome (EDS).
• To compare OSA prevalence in pediatric EDS patients versus healthy controls.
• To investigate the association between EDS and OSA in a pediatric cohort.

Main Methods:

• Prospective cross-sectional study involving 24 pediatric EDS patients and matched healthy controls.
• Home respiratory polygraphy was used for sleep monitoring.
• Standardized questionnaires (SRBD, ESS, CHQ) and American Academy of Sleep Medicine criteria for OSA diagnosis (oAHI ≥1/h) were employed.

Main Results:

• Obstructive sleep apnoea (OSA) was diagnosed in 42% of pediatric EDS patients, compared to 13% in controls (OR=4.5, p=0.054).
• Median obstructive apnoea-hypopnoea index (oAHI) was significantly higher in EDS patients (0.77/h) than controls (0.24/h, p<0.001).
• EDS patients reported worse quality of life (lower CHQ scores) and increased sleepiness (higher SRBD and ESS scores).

Conclusions:

• Obstructive sleep apnoea (OSA) is a common and previously underestimated complication in children with Ehlers-Danlos syndrome (EDS).
• The findings suggest that OSA significantly contributes to the disease burden in pediatric EDS.
• Screening for OSA should be considered in children diagnosed with Ehlers-Danlos syndrome.