Down Syndrome
Conditions
Keywords
Down syndrome, sleep disorders, Apnea, physical activity, neurocognition, autonomic nervous system
Brief summary
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
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.
Interventions
None listed
Sponsors
University Hospital, Grenoble
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
6 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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 | Visite 2: 2 nights | Diagnosis of Sleep Apnea Syndrome using calculation of apnea hypopnea index (AHI)\>15 events/h |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Sleep-disordered breathing associated with dysautonomia | Visite 2: 1 night | Polysomnography |
| Sleep-disordered breathing associated with specific abnormalities of the biological work-up | Visite 1: the morning before the physical activity | 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. |
| Sleep-disordered breathing associated with a specific cranial structure | Day 0 | 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. |
| Sleep-disordered breathing associated with inadequate physical activity | Day 0 and visite 1 | 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). |
| Sleep-disordered breathing associated with specific neurobehavioral disorders | Day 0 | 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) |
Countries
France
Contacts
Primary ContactVeronique BRICOUT
Outcome results
None listed