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| Name | Class |
|---|---|
| Hôpital Armand Trousseau | OTHER |
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Recently, retrospective studies have shown that Down Syndrome children have a higher CO2 (carbone dioxide) sleep pressure than the general pediatric population. This increase does not seem to be always related to sleep apnea. The Investigators wish to confirm these results prospectively. The investigators hypothesize that this alveolar hypoventilation may be due to ventilatory control disorders caused by dysautonomia, but also to a decrease in the strength of the respiratory muscles within the framework of the global muscular hypotonia described in children with Down syndrome. .
47 Down syndrome patients age from 4 to 16 will be included. They will perform a medical visit at J0, then a measurement of gaz nocturnal exchanges at home within 1 month
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Cohort | Experimental | 47 Down syndrome patients age from 4 to 16 |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Nocturnal gaz exchanges measurement | Other | Nocturnal gaz exchanges at patient's home BRIEF neuropsychological questionnaire VINELAND-II neuropsychological questionnaire Clinical OSA assessment Dysautonomia assessment |
| Measure | Description | Time Frame |
|---|---|---|
| Number of patients with high mean PtcCO2 as assessed by nocturnal gas exchange recordings | 2 months |
| Measure | Description | Time Frame |
|---|---|---|
| Percentage of total sleep time with a PtcCO2 in mmHg higher than 50; mean, maximum and minimum SpO2 in % | 2 months | |
| Number of patients with low mean, minimum and maximum SpO2 (oyxygen saturation) and/or % of Total sleep time spent with a PtcCO2 higher than 50 mmHg, higher than 20%, as measured by nocturnal gas exchange recordings. |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| TAYTARD MD Jessica | Hôpital Armand Trousseau | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hôpital Armand Trousseau | Paris | 75012 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 23121137 | Background | Feldman JL, Del Negro CA, Gray PA. Understanding the rhythm of breathing: so near, yet so far. Annu Rev Physiol. 2013;75:423-52. doi: 10.1146/annurev-physiol-040510-130049. Epub 2012 Oct 29. | |
| 25928806 | Background | Trang H, Brunet JF, Rohrer H, Gallego J, Amiel J, Bachetti T, Fischbeck KH, Similowski T, Straus C, Ceccherini I, Weese-Mayer DE, Frerick M, Bieganowska K, Middleton L, Morandi F, Ottonello G; European Central Hypoventilation Syndrome Consortium. Proceedings of the fourth international conference on central hypoventilation. Orphanet J Rare Dis. 2014 Dec 5;9:194. doi: 10.1186/s13023-014-0194-5. |
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| ID | Term |
|---|---|
| D004314 | Down Syndrome |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
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Down syndrome patients aged from 4 to 16 years
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| 2 months |
| Correlation between nocturnal PtcCO2 value and the existence of executive function and behavioral disorders assed by the Dysautonomia questionnaire | 2 months |
| Correlation between nocturnal PtcCO2 value and the existence of executive function and behavioral disorders measured by Hand Grip assessment | 2 months |
| Correlation between nocturnal PtcCO2 value and the existence of executive function and behavioral disorders measured by OSA (Obstructive Sleep Apnea) assessment questionnaire | 2 months |
| 16924359 | Background | Ng DK, Hui HN, Chan CH, Kwok KL, Chow PY, Cheung JM, Leung SY. Obstructive sleep apnoea in children with Down syndrome. Singapore Med J. 2006 Sep;47(9):774-9. |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |