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

University of Zurich (UZH)

Status: Completed

Conditions: Ehler's Danlos Syndrome; Obstructive Sleep Apnea

Treatments: Other: No intervention

Study type: Observational

Funder types: Other

Identifiers

NCT02712060

KEK-ZHNr. 2015-0144

Details and patient eligibility

About

Ehlers-Danlos Syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. EDS features such as genetically related cartilage defects, craniofacial abnormalities and increased pharyngeal collapsibility have been proposed to cause obstructive sleep apnoea (OSA). There is evidence from studies based on questionnaires that EDS patients might be more frequently affected by OSA and sleep disturbances than the general population. However, the actual prevalence of OSA in children and adolescents with EDS is unknown.

The primary objective of this study is to assess the prevalence of OSA in children and adolescents with EDS (25) compared to a matched control group (25). The secondary objective of this pioneer study is to assess the quality of life in children and adolescents in EDS in comparison to healthy children and adolescents.

Full description

Ehlers-Danlos Syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. EDS features such as genetically related cartilage defects, craniofacial abnormalities and increased pharyngeal collapsibility have been proposed to cause obstructive sleep apnoea (OSA). There is evidence from studies based on questionnaires that EDS patients might be more frequently affected by OSA and sleep disturbances than the general population. However, the actual prevalence of OSA in children and adolescents with EDS is unknown.

The primary objective of this study is to assess the prevalence of OSA in children and adolescents with EDS compared to a matched control group. The secondary objective of this pioneer study is to assess the quality of life in children and adolescents in EDS in comparison to healthy children and adolescents.

Enrollment: 50 patients

Sex: All

Ages: Under 18 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Informed consent
• Diagnosis of Ehlers-Danlos Syndrome (not for control group)

Exclusion criteria

• Moribund or severe disease prohibiting protocol adherence
• Continuous positive airway pressure treatment for OSA during sleep study
• Physical or intellectual impairment precluding informed consent or protocol adherence
• Pregnant patients

Trial design

50 participants in 2 patient groups

EDS patients

Description:

Patients with the diagnosis of Ehlers-Danlos syndrome

Treatment:

Other: No intervention

controls

Description:

Patients/Subjects without the diagnosis of Ehlers-Danlos syndrome

Treatment:

Other: No intervention