Clinical Outcomes From Treatment and Evaluation of Obstructive Sleep Apnoea in Children With Down Syndrome (REFRESHED)

Real World Clinical Outcomes From Treatment and Evaluation of Obstructive Sleep Apnoea Syndrome in Children With Down Syndrome

The goal of this observational study is to learn about the use of non-invasive ventilation for treatment of obstructive sleep apnoea syndrome in children with Down Syndrome. The main questions it aims to answer are:

• What is the impact of non-invasive ventilation on sleep behaviours and quality of life?
• What barriers are faced by children and their families in establishing tolerance to non-invasive ventilation?

Participants will be asked to complete questionnaires before and after starting treatment. Researchers will compare this data with the results of sleep studies and non-invasive ventilator downloads recorded as part of standard medical care. A sub-group of up to 20 participants will be invited to take part in 45-60 minute interviews exploring expectations, experiences and barriers encountered during non-invasive ventilation therapy.

Study Overview

• Status: Recruiting
• Conditions: Quality of Life; Obstructive Sleep Apnea; Down Syndrome; Behavior; Adherence, Treatment
• Intervention / Treatment: Device: Non-invasive ventilation

Detailed Description

Our aim is to examine the impact of non-invasive ventilation for treatment of obstructive sleep apnoea syndrome in children with Down Syndrome on behavioural and quality of life outcomes and to establish the specific barriers experienced in establishing adherence to treatment.

Information from clinical assessment, sleep studies and device downloads recorded as part of standard care will be combined with questionnaire data to assess for changes in behaviour and quality of life. All participants will undergo questionnaire assessment of barriers experienced. A sub-group of up to 20 participants will be invited to take part in 45-60 minute semi-structured interviews exploring expectations, experiences and barriers encountered.

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: Roy G Stone; Phone Number: 604 0035314282626; Email: refreshed@olchc.ie

Study Locations

• Ireland
  • Dublin, Ireland, D02 PN40
    • Recruiting
    • Trinity College Dublin
    • Contact: Ruth Monaghan
    • Principal Investigator: Elizabeth Nixon
    • Sub-Investigator: Ruth Monaghan
  • Dublin, Ireland, D12 N512
    • Recruiting
    • Children's Health Ireland
    • Contact: Roy G Stone; Phone Number: 604 0035314282626; Email: refreshed@olchc.ie
    • Principal Investigator: Sheila Javadpour
    • Sub-Investigator: Roy G Stone
    • Sub-Investigator: Lisa Farrell
    • Principal Investigator: Anne-Marie Casey
• United Kingdom
  • Belfast, United Kingdom, BT12 6BA
    • Not yet recruiting
    • Royal Belfast Hospital for Sick Children
    • Contact: Dara O'Donoghue
    • Principal Investigator: Dara O'Donoghue
    • Sub-Investigator: Barbara Maxwell
    • Sub-Investigator: Ruth Harte
  • Birmingham, United Kingdom, B4 6NH
    • Not yet recruiting
    • Birmingham Children's Hospital
    • Contact: Priti Kenia
    • Principal Investigator: Priti Kenia
  • Edinburgh, United Kingdom, EH16 4TJ
    • Not yet recruiting
    • Royal Hospital for Children & Young People
    • Contact: Florian Gahleitner
    • Principal Investigator: Florian Gahleitner
  • Southampton, United Kingdom, SO16 6YD
    • Not yet recruiting
    • Southampton Children's Hospital
    • Principal Investigator: Hazel Evans
    • Contact: Hazel Evans
    • Contact: Catherine M Hill
    • Principal Investigator: Catherine M Hill

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Children with Down Syndrome referred for evaluation for suspected sleep disordered breathing

Description

Inclusion Criteria:

• Individuals with a confirmed diagnosis of Down Syndrome where a clinical decision has been made to initiate respiratory support with non-invasive ventilation.
• Obstructive Apnoea Hypopnoea Index > 2 episodes/hour or where sleep disordered breathing symptoms occur in combination with an Apnoea Hypopnoea Index > 1 episode/hr. - English language proficiency.
• Age ≥ 4 months at the commencement of therapy.

Exclusion Criteria:

• Individuals not willing to comply with study procedures or assessments.
• Individuals for whom ventilatory support devices are already prescribed and those with artificial airways.
• Individuals on clinical trials of investigational support therapies.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Standard; In addition to data from clinical assessment, sleep studies and non-invasive ventilator downloads recorded as part of standard care participants will undergo questionnaire assessment of behaviour, quality of life and barriers to tolerating treatment. Participants aged 3 years and above will receive the Child Sleep Habits Questionnaire, Obstructive Sleep Apnoea-18 questionnaire and Adherence Barriers to CPAP (Continuous Positive Airway Pressure) Questionnaire. Participants aged 6 months to 3 years will receive the Brief Infant Sleep Questionnaire, Infant Toddler Quality of Life - Short Form 47, Obstructive Sleep Apnoea -18 Caregiver Concern Domain and a modified version of the Adherence Barriers to CPAP Questionnaire.	Device: Non-invasive ventilation; Non-invasive ventilation
Advanced; In addition to all elements of the standard testing group, a sub-group of up to 20 participants will be invited to take part in 45-60 minute semi-structured interviews exploring expectations, experiences and barriers encountered.	Device: Non-invasive ventilation; Non-invasive ventilation

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To determine the effect of treatment of obstructive sleep apnoea syndrome with non-invasive ventilation on quality of life in children with Down Syndrome > 3 years.	Change in Obstructive Sleep Apnoea - 18 scores (Range 0- 126, Higher scores indicating worse quality of life) from baseline will be used to evaluate for improvement in sleep related breathing specific quality of life in children >3 years. Sleep disturbance, physical suffering, emotional distress, daytime problems and caregiver concern subscales will also be evaluated for change.	Prior to and following 8 weeks attempted initiation of non-invasive ventilation treatment
To determine the effect of treatment of obstructive sleep apnoea syndrome with non-invasive ventilation on quality of life in children with Down Syndrome < 3 years.	Change in Infant Toddler Quality of Life - Short Form 47 scores (Range 0 - 100, Higher scores indicating greater quality of life) from baseline will be used to evaluate for improvement in sleep related breathing specific quality of life in children < 3 years. Infant and parent subscales will also be evaluated for change.	Prior to and following 8 weeks attempted initiation of non-invasive ventilation treatment
To determine the effect of treatment of obstructive sleep apnoea syndrome with non-invasive ventilation on caregiver concerns regarding sleep disordered breathing for caregivers of children with Down Syndrome < 3 years.	Change in Caregiver-concern domain of the Obstructive Sleep Apnoea - 18 (Range 0 - 28, Higher scores indicating worse quality of life) from baseline will be used to evaluate for change in caregiver concern regarding sleep disordered breathing.	Prior to and following 8 weeks attempted initiation of non-invasive ventilation treatment
To determine the effect of treatment of obstructive sleep apnoea with non-invasive ventilation on sleep behaviours in children with Down Syndrome > 3 years.	Change in Child Sleep Habits Questionnaire scores (Range 0 - 97, Higher scores indicating greater sleeping difficulties) from baseline will be used to evaluate for overall improvement in sleep behaviours in children > 3 years. Bedtime resistance, sleep onset delay, sleep duration, sleep anxiety, night waking, parasomnia, sleep disordered breathing and daytime sleepiness subscales will also be evaluated for change.	Prior to and following 8 weeks attempted initiation of non-invasive ventilation treatment
To determine the effect of treatment of obstructive sleep apnoea with non-invasive ventilation on sleep behaviours in children with Down Syndrome < 3 years.	Change in Brief Infant Sleep Questionnaire scores (Range 0 - 100, Lower scores indicating greater sleeping difficulties) from baseline will be used to evaluate for overall improvement in sleep behaviours in children < 3 years. Infant sleep, parent perception and parent behaviour subscales will also be evaluated for change.	Prior to and following 8 weeks attempted initiation of non-invasive ventilation treatment
To establish the specific barriers to adherence faced by children > 3 years with Down Syndrome and their caregivers when starting non-invasive ventilation for the treatment of obstructive sleep apnoea syndrome	Quantitative assessment of barriers encountered in establishing adherence will be evaluated using the Continuous Positive Airway Pressure Questionnaire (Range 29-145, Higher scores indicating greater barriers to adherence) for children > 3 years. Behaviours/belief/environment, emotional and physical subscales will also be evaluated for change.	Prior to and following 8 weeks attempted initiation of non-invasive ventilation treatment
To establish the specific barriers to adherence faced by children < 3 years with Down Syndrome and their caregivers when starting non-invasive ventilation for the treatment of obstructive sleep apnoea syndrome	Quantitative assessment of barriers encountered in establishing adherence will be evaluated using the Modified Continuous Positive Airway Pressure Questionnaire (Range 27 - 135, Higher scores indicating greater barriers to adherence) for children < 3 years. This is a non-validated questionnaire developed by our research group.	Prior to and following 8 weeks attempted initiation of non-invasive ventilation treatment
Assessment of expectations, experiences and barriers experienced by families in the treatment of obstructive sleep apnoea syndrome with non-invasive ventilation	Qualitative assessment of expectations, experiences and barriers experienced during non-invasive ventilation treatment will be explored through semi-structured interviews to add nuance to the outcomes around efficacy of treatment, quality of life, behaviour, and treatment adherence	After 8 weeks of attempted initiation of non-invasive ventilation

Collaborators and Investigators

• Sponsor: Children's Health Ireland
• Collaborators: Belfast Health and Social Care Trust; University of Edinburgh; University Hospital Southampton NHS Foundation Trust; University of Dublin, Trinity College; Birmingham Children's Hospital
• Investigators: Principal Investigator: Sheila Javadpour, Children's Health Ireland

Study record dates

Study Major Dates

• Study Start (Actual): November 28, 2022
• Primary Completion (Estimated): November 28, 2027
• Study Completion (Estimated): December 28, 2027

Study Registration Dates

• First Submitted: April 30, 2023
• First Submitted That Met QC Criteria: September 4, 2023
• First Posted (Actual): September 11, 2023

Study Record Updates

• Last Update Posted (Actual): February 12, 2024
• Last Update Submitted That Met QC Criteria: February 9, 2024
• Last Verified: February 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Respiratory Tract Diseases; Respiration Disorders; Sleep Disorders, Intrinsic; Dyssomnias; Sleep Wake Disorders; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Signs and Symptoms, Respiratory; Intellectual Disability; Abnormalities, Multiple; Chromosome Disorders; Sleep Apnea Syndromes; Sleep Apnea, Obstructive; Syndrome; Apnea; Down Syndrome
• Other Study ID Numbers: REC137-22

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