Anomalies of Nocturnal Gaz Exchanges in Patients With Down Syndrome

Anomalies of Nocturnal Gaz Exchanges in Patients With Down Syndrome Aged From 4 to 16 Years

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. .

Study Overview

• Status: Completed
• Conditions: Down Syndrome
• Intervention / Treatment: Other: Nocturnal gaz exchanges measurement

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

• Study Type: Interventional
• Enrollment (Actual): 48
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: TAYTARD MD Jessica; Phone Number: +33 1 71 73 84 11; Email: jessica.taytard@aphp.fr
• Study Contact Backup: Name: RAVEL MD Aîmé; Phone Number: + 33 1 56 58 63 00; Email: aimé.walti@institutlejeune.org

Study Locations

• France
  • Paris, France, 75012
    • Hopital Armand Trousseau

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 4 years to 16 years (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Cohort; 47 Down syndrome patients age from 4 to 16	Other: Nocturnal gaz exchanges measurement; Nocturnal gaz exchanges at patient's home BRIEF neuropsychological questionnaire VINELAND-II neuropsychological questionnaire Clinical OSA assessment Dysautonomia assessment

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Number of patients with high mean PtcCO2 as assessed by nocturnal gas exchange recordings	2 months

Secondary Outcome Measures

Outcome Measure	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.	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

Collaborators and Investigators

• Sponsor: Institut Jerome Lejeune
• Collaborators: Hôpital Armand Trousseau

Publications and helpful links

General Publications

• 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.
• 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.
• 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.

Study record dates

Study Major Dates

• Study Start (Actual): October 14, 2019
• Primary Completion (Actual): March 25, 2022
• Study Completion (Actual): May 23, 2022

Study Registration Dates

• First Submitted: March 23, 2019
• First Submitted That Met QC Criteria: April 3, 2019
• First Posted (Actual): April 4, 2019

Study Record Updates

• Last Update Posted (Actual): March 2, 2023
• Last Update Submitted That Met QC Criteria: March 1, 2023
• Last Verified: March 1, 2023

More Information

Terms related to this study

• Keywords: Children; OSA; Down Syndrome; Sleep Apnoa
• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Intellectual Disability; Abnormalities, Multiple; Chromosome Disorders; Syndrome; Down Syndrome
• Other Study ID Numbers: TriRespi

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No