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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| DS group | A cohort of participants (child, teenager, or adult), with or without sleep disorders |
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| 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 |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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Down syndrome is associated with numerous clinical expressions. The most frequent are deficits in cognitive development, autonomic nervous system dysfunctions, cardiovascular dysfunctions, and osteoarticular specificities. Taken together, these clinical features can lead to a sedentary and overweight lifestyle, directly responsible for the onset of early fatigue and effort limitation. Numerous co-morbidities are also reported, such as the presence of sleep apnea syndrome.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Veronique BRICOUT | Contact | 0476767226 | VBricout@chu-grenoble.fr |
| Name | Affiliation | Role |
|---|---|---|
| Sébastien BAILLIEUL | University Grenoble Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Chu Grenoble Alpes | Recruiting | La Tronche | 38043 | France |
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| ID | Term |
|---|---|
| D004314 | Down Syndrome |
| D012893 | Sleep Wake Disorders |
| D001049 | Apnea |
| D009043 | Motor Activity |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
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blood samples to analyze inflammatory profile
| 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:
| Day 0 |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D001523 | Mental Disorders |
| D012120 | Respiration Disorders |
| D012140 | Respiratory Tract Diseases |
| D012818 | Signs and Symptoms, Respiratory |
| D001519 | Behavior |