Clinical trial NCT03903666: Anomalies of Nocturnal Gaz Exchanges in Patients With Down Syndrome
Official title: Anomalies of Nocturnal Gaz Exchanges in Patients With Down Syndrome Aged From 4 to 16 Years
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Down Syndrome
Keywords: Sleep Apnoa
Down Syndrome
Children
OSA
Lead sponsor: Institut Jerome Lejeune
Sponsor class: OTHER
Collaborators: name: Hôpital Armand Trousseau
First posted: 2019-04-04
Enrollment: 48
Sex: ALL
Minimum age (years): 4
Maximum age (years): 16
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: Down syndrome patients aged from 4 to 16 years
Primary purpose: DIAGNOSTIC

Brief summary: 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. .

Detailed description: 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

Eligibility criteria: Inclusion Criteria:

* Down syndrome patient without mosaicism
* Age 4 to 16 years
* Predominant French language in the living environment

Exclusion Criteria:

* OAS diagnostic focused on an earlier polysomnography
* Methylphenidate treatment started before inclusion

Primary outcomes:
measure: Number of patients with high mean PtcCO2 as assessed by nocturnal gas exchange recordings
timeFrame: 2 months
Secondary outcomes:
measure: Percentage of total sleep time with a PtcCO2 in mmHg higher than 50; mean, maximum and minimum SpO2 in %
timeFrame: 2 months
measure: 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.
timeFrame: 2 months
measure: Correlation between nocturnal PtcCO2 value and the existence of executive function and behavioral disorders assed by the Dysautonomia questionnaire
timeFrame: 2 months
measure: Correlation between nocturnal PtcCO2 value and the existence of executive function and behavioral disorders measured by Hand Grip assessment
timeFrame: 2 months
measure: Correlation between nocturnal PtcCO2 value and the existence of executive function and behavioral disorders measured by OSA (Obstructive Sleep Apnea) assessment questionnaire
timeFrame: 2 months
Other outcomes:
Locations:
city: Paris
country: France
facility: Hôpital Armand Trousseau
Study officials:
affiliation: Hôpital Armand Trousseau
name: TAYTARD MD Jessica
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.
citation: 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.