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The obstructive sleep apnea syndrome (OSAS) is frequently reported in subjects with trisomy 21. The consequences of this syndrome are expressed in various disorders such as cognitive and cardiovascular alterations. It is also reported a premature exhaustion with the achievement of various professional or recreational activities, as well as an increase in the frequency of daytime sleepiness. In trisomy 21, there are factors that are systematically associated with obstructive apnea. The identification of these factors would make it possible to diagnose OSAS earlier, under-diagnosed in the population with trisomy 21 even though these OSAS are associated with increased cardiovascular risks.
The aim of this study is to identify the predictive factors associated with sleep apnea in the trisomy population in order to propose early detection.
OSAS treatment in a young adult with Down syndrome could reduce physical fatigue apparition during various activities, reduce daytime sleepiness, and have a positive impact on physical fitness, and therefore more broadly on health.
The predictive factors for OSA that will be studied are: physical activity level, dentofacial disharmonies, blood parameters, motor disabilities, heart rate variability parameters measured during sleep and during autonomic nervous stimulation by orthostatic test.
All these factors will be linked to the data obtained by:
OSAS lead to many associated disorders, which identified early can be better supported to limit the deleterious effects of this OSAS:
(i) a sudden and repeated activation of the sympathetic nervous system triggered by sleep fragmentation (ii) intermittent hypoxia associated with OSAS may increase insulin resistance through the involvement of an inflammatory state and oxidative stress.
(iii) a significant level of diurnal fatigue limiting activities, thus promoting a sedentary lifestyle and increasing cardiovascular risk factors.
Several secondary objectives will therefore be studied:
Finally does the use seismocardiography make it possible to identify quickly and early these risk factors linked to OSAS?
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Down Syndrome (DS) | Assessment of OSAS predictive factors in Down Syndrome without or without OSAS |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Assessment of OSAS predictive factors | Diagnostic Test | All subjects of the two groups realized the same assessment:
|
| Measure | Description | Time Frame |
|---|---|---|
| Identification of predictive factors associated to obstructive sleep apnea syndrome in DS subjects | OSAS will be diagnosed with polysomnography and seismocardiography. AHI threshold will be 15 to diagnose an OSAS (score). | 4 months |
| Measure | Description | Time Frame |
|---|---|---|
| dysautonomia role on OSAS in DS | Cardiac response during exercise (existence of chronotropic incompetence %HR(reserve)lower than 80%) | 1 day |
| Investigation of autonomic nervous system | spectral variations of blood pressure and heart rate variability during head-up tilt test : (spectral density in ms² and normalized units) |
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Inclusion Criteria:
Subjects with Down syndrome, able to practice physical activity all participants have received information all have signed the consent form
Exclusion Criteria:
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Adults with Down syndome voluntary to participated
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| Name | Affiliation | Role |
|---|---|---|
| Stéphane DOUTRELEAU, MD | CHU Grenoble Alpes | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU Grenoble Alpes | Échirolles | 38130 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 25660758 | Background | Leti T, Guinot M, Favre-Juvin A, Bricout VA. Difference of catecholamine responses to exercise in men with trisomy 21, with or without chronotropic incompetence. Physiol Behav. 2015 Apr 1;142:97-103. doi: 10.1016/j.physbeh.2015.02.007. Epub 2015 Feb 4. | |
| 18363810 | Background | Bricout VA, Guinot M, Faure P, Flore P, Eberhard Y, Garnier P, Juvin AF. Are hormonal responses to exercise in young men with Down's syndrome related to reduced endurance performance? J Neuroendocrinol. 2008 May;20(5):558-65. doi: 10.1111/j.1365-2826.2008.01695.x. Epub 2008 Mar 15. |
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| ID | Term |
|---|---|
| D004314 | Down Syndrome |
| D020181 | Sleep Apnea, Obstructive |
| D009043 | Motor Activity |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
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|
| 1 day |
| Oxygenation and dysautonomia | Cerebral and peripheral oxygenation parameters measured with near-infrared spectroscopy during head-up tilt test (delta Hbtot between supine and head up tilt positions) - Cardiac response during exercise (existence of chronotropic incompetence) | 1 day |
| Investigation of dysautonomia during sleep | spectral variations of heart rate variability (spectral density in ms² and normalized units) | 3 nignts |
| Biological profile | Disorders in blood parameters will be assessed by different inflammatory, corticotropic, thyroid and glycemic values in comparison with reference values. | 1 day |
| anthropometric characteristics role on OSAS in DS | Existence of morphologic specificities will be investigated: Craniofacial abnormalities with orthopantomogram (degree) | 1 day |
| Metabolic syndrome | Existence of morphologic specificities will be investigated: Neck, waist and hips circumferences (cm) | 1 day |
| morphologic parameters | Existence of morphologic specificities will be investigated: Body fat composition (%) | 1 day |
| Quantification of physical activity | Physical activity level will be assessed with actigraphy (min or h per day) | 15 days |
| Motor skills | motor capacities : strength (explosive leg power (cm) and handgrip measure), flexibility (cm), balance (cm) | 15 days |
| questionnaire of physical activity | G- PAQ and parental perceptions of physical activity (score) | 15 days |
| Sleep questionnaire | Epworth and Pittsburg questionnaire (score) | 15 days |
| 18277183 | Background | Flore P, Bricout VA, van Biesen D, Guinot M, Laporte F, Pepin JL, Eberhard Y, Favre-Juvin A, Wuyam B, van de Vliet P, Faure P. Oxidative stress and metabolism at rest and during exercise in persons with Down syndrome. Eur J Cardiovasc Prev Rehabil. 2008 Feb;15(1):35-42. doi: 10.1097/HJR.0b013e3282f2bff3. |
| 34827499 | Result | Nguyen TD, Baillieul S, Guinot M, Doutreleau S, Bricout VA. Classification of Factors Effect on Sleep in Individuals with Down Syndrome. Brain Sci. 2021 Nov 12;11(11):1500. doi: 10.3390/brainsci11111500. |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D012891 | Sleep Apnea Syndromes |
| D001049 | Apnea |
| D012120 | Respiration Disorders |
| D012140 | Respiratory Tract Diseases |
| D020919 | Sleep Disorders, Intrinsic |
| D020920 | Dyssomnias |
| D012893 | Sleep Wake Disorders |
| D001519 | Behavior |