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

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

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

Conditions
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Ehler's Danlos Syndrome, Obstructive Sleep Apnea

Intervention / Treatment
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* Other: No intervention


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| EDS patients<br>Patients with the diagnosis of Ehlers-Danlos syndrome | Other: No intervention<br> <br> |
| controls<br>Patients/Subjects without the diagnosis of Ehlers-Danlos syndrome | Other: No intervention<br> <br> |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Prevalence of OSA in children and adolescents with EDS |  | up to 12 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Quality of life in children and adolescents with EDS |  | up to 12 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Ehlers-Danlos Syndrome, Obstructive Sleep Apnea, Prevalence, Children, Pediatric, Adolescents