Down Syndrome, Physical Activity and Sleep Apnea

Study Overview
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Brief Summary
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To realize a sleep phenotyping in a population with Down syndrome, its determinants, and the consequences of these disorders, with a specific focus on sleep apnea syndrome.

Detailed Description
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Sleep disorders are widely observed in the Down's syndrome population, due to a number of risk factors, and can become established in early childhood. Diagnosis of sleep disorders in Down's syndrome is difficult and often delayed, which can contribute to poor health in children with Down's syndrome. Phenotyping sleep characteristics in this Down Syndrome population will enable early identification of the consequences of these disorders, with a specific focus on sleep apnea syndrome, whose origin is multisystemic.

Official Title
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Down Syndrome, Physical Activity and Sleep Apnea

Conditions
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Down Syndrome

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Total autosomal trisomy caused by the presence of a third copy (partial or total) of chromosome 21 Exclusion Criteria: People with abnormal electrocardiographic tracings, Existence of heart failure or cardiovascular disease, as determined by any abnormalities in cardiovascular adaptations to exercise. Existence of a declared or uncontrolled progressive disease. pregnant or breast-feeding women.

Ages Eligible for Study
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Minimum Age: 6 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| DS group<br>A cohort of participants (child, teenager, or adult), with or without sleep disorders | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| phenotyping of sleep in a population with Down's syndrome, its determinants, and the consequences of these disorders, with a specific focus on sleep apnea syndrome, whose origin is multisystemic | Diagnosis of Sleep Apnea Syndrome using calculation of apnea hypopnea index (AHI)>15 events/h | Visite 2: 2 nights | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Sleep-disordered breathing associated with dysautonomia | Polysomnography | Visite 2: 1 night | 
| Sleep-disordered breathing associated with dysautonomia | Heart rate (beat per min) recording using a cardiofrequency meter to measure the RR interval (in milliseconds); measured over 3 nights max in an ecological environment | Visite 2: up to 3 nights | 
| Sleep-disordered breathing associated with dysautonomia | The variables used to assess the autonomic profile will be obtained by calculating LF and LF(low and high frequency in ms² and normalized units) spectral variations and the LF/HF ratio | Visite 2: up to 3 nights | 
| Sleep-disordered breathing associated with specific abnormalities of the biological work-up | Biological disturbances will be assessed by differences in thyroid function, and other biological variables (NFS, lipid and hormone levels, iron levels) in comparison with standards. This biological assessment is obtained by blood sampling. | Visite 1: the morning before the physical activity | 
| Sleep-disordered breathing associated with a specific cranial structure | The existence of cranial anatomical variations, in particular anomalies specific to the oral sphere (modification of the gonia angle (in degrees), and prognatism (in cm)) will be investigated by cephalometry. | Day 0 | 
| Sleep-disordered breathing associated with inadequate physical activity | Abnormalities in the physiological response to exercise (VO2 (in mL/kg/min) compared with the predicted value) will be investigated and linked to the level of physical activity measured by questionnaires (scores). | Day 0 and visite 1 | 
| Sleep-disordered breathing associated with inadequate physical activity | Abnormalities in the physiological response to exercise (VO2 (in mL/kg/min) compared with the predicted value) will be investigated and linked to the level of physical activity measured by actimetry (min per day) | From inclusion to last visit of the patient: up to 90 days | 
| Sleep-disordered breathing associated with inadequate physical activity | Abnormalities in the physiological response to exercise (VO2 (in mL/kg/min) compared with the predicted value) will be investigated and linked to the level of physical activity measured by anthropometric variables (Weight (kg) | Day 0 and visite 1: 1 time | 
| Sleep-disordered breathing associated with inadequate physical activity | Abnormalities in the physiological response to exercise (VO2 (in mL/kg/min) compared with the predicted value) will be investigated and linked to the level of physical activity measured by Height (m) | Day 0 and visite 1: 1 time | 
| Sleep-disordered breathing associated with inadequate physical activity | Abnormalities in the physiological response to exercise (VO2 (in mL/kg/min) compared with the predicted value) will be investigated and linked to the level of physical activity measured by BMI (kg/m²) | Day 0 and visite 1: 1 time | 
| Sleep-disordered breathing associated with inadequate physical activity | Abnormalities in the physiological response to exercise (VO2 (in mL/kg/min) compared with the predicted value) will be investigated and linked to the level of physical activity measured by determinants of physical fitness (measurement of strength (Newton) | Visite 1: up to 1 hour | 
| Sleep-disordered breathing associated with inadequate physical activity | Abnormalities in the physiological response to exercise (VO2 (in mL/kg/min) compared with the predicted value) will be investigated and linked to the level of physical activity measured by flexibility (cm) | Visite 1: up to 1 hour | 
| Sleep-disordered breathing associated with inadequate physical activity | Abnormalities in the physiological response to exercise (VO2 (in mL/kg/min) compared with the predicted value) will be investigated and linked to the level of physical activity measured by balance variables (seconds). | Visite 1: up to 1 hour | 
| Sleep-disordered breathing associated with inadequate physical activity | Effort response (% chronotropic response) will also be calculated to complete the autonomic profile. | Visite 1: up to 1 hour | 
| Sleep-disordered breathing associated with specific neurobehavioral disorders | A neurobehavioral profile assessment will be carried out using several tests, in order to verify the possible impact of TdS on cognitive function: Intelligence quotient (Wechsler scale), if not previously performed (score) Stroop task (inhibitory control) (score) Reaction time using a light device (seconds) Ability to perform a double cognitive-motor task, (score) BRIEF questionnaire (to explore executive function) (score) ADHD rating scale (to explore signs of attention deficit/hyperactivity disorder). (score) | Day 0 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Down syndrome, sleep disorders, Apnea, physical activity, neurocognition, autonomic nervous system