TAPAS: Down Syndrome, Physical Activity and Sleep Apnea

Sponsor

University Hospital, Grenoble (Other)

Overall Status

Not yet recruiting

CT.gov ID

NCT06061562

Collaborator

(none)

Enrollment

Anticipated Duration (Months)

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Down 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.

Study Design

Study Type:

Observational [Patient Registry]

Anticipated Enrollment :

50 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Down Syndrome, Physical Activity and Sleep Apnea

Anticipated Study Start Date :

Oct 1, 2023

Anticipated Primary Completion Date :

Dec 31, 2026

Anticipated Study Completion Date :

Dec 31, 2026

Arms and Interventions

Arm	Intervention/Treatment
DS group A cohort of participants (child, teenager, or adult), with or without sleep disorders

Outcome Measures

Primary Outcome Measures

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 Outcome Measures

Sleep-disordered breathing associated with dysautonomia [Visite 2: 1 night]
Polysomnography
Sleep-disordered breathing associated with dysautonomia [Visite 2: up to 3 nights]
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
Sleep-disordered breathing associated with dysautonomia [Visite 2: up to 3 nights]
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
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 inadequate physical activity [From inclusion to last visit of the patient: up to 90 days]
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)
Sleep-disordered breathing associated with inadequate physical activity [Day 0 and visite 1: 1 time]
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)
Sleep-disordered breathing associated with inadequate physical activity [Day 0 and visite 1: 1 time]
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)
Sleep-disordered breathing associated with inadequate physical activity [Day 0 and visite 1: 1 time]
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)
Sleep-disordered breathing associated with inadequate physical activity [Visite 1: up to 1 hour]
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)
Sleep-disordered breathing associated with inadequate physical activity [Visite 1: up to 1 hour]
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)
Sleep-disordered breathing associated with inadequate physical activity [Visite 1: up to 1 hour]
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).
Sleep-disordered breathing associated with inadequate physical activity [Visite 1: up to 1 hour]
Effort response (% chronotropic response) will also be calculated to complete the autonomic profile.
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)

Eligibility Criteria

Criteria

Ages Eligible for Study:

6 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.