Validation of Sleep Questionnaires in the Down Syndrome Population

February 6, 2024 updated by: Derek Lam, MD, MPH, Oregon Health and Science University
This will be a prospective validation study of a sample of consecutive pediatric Down syndrome patients who are seen through the weekly Down syndrome clinic at OHSU/Doernbecher's. Questionnaires will be administered to approximately 5 new patients per month. Since this population has a higher prevalence of OSA than the general pediatric population, and OSA is a potentially modifiable determinant of quality of life, validated instruments are critical in assessing disease burden and response to treatment.

Study Overview

Status

Active, not recruiting

Conditions

Intervention / Treatment

Detailed Description

Specific Aims:

  1. Demonstrate the criterion validity of the Sleep-Related Breathing Disorder subscale of the PSQ as a screening tool for the diagnosis of OSA in children with Down Syndrome, using polysomnography as the gold standard.

    Hypothesis: Compared to the published threshold for a positive screen in the general pediatric population (≥ 7 of 22 positive responses), the threshold for a positive screen that corresponds to an optimal sensitivity and specificity in the Down syndrome population will be significantly different.

  2. Demonstrate the construct validity of the OSA-18 as a scale to assess sleep-related quality of life in children with Down Syndrome by comparing OSA-18 scores to an objective measure of disease burden (polysomnography) and a generic quality of life instrument (the Pediatric Quality of Life inventory, PedsQL).

Hypothesis: OSA-18 scores will be significantly associated with the Apnea-Hypopnea Index assessed by polysomnography and the PedsQL Total Score, Physical Health, and Psychosocial Health summary scores.

Background:

  1. Obstructive Sleep Apnea and Down Syndrome: Obstructive sleep apnea (OSA) affects 1-5% of children in the US and has been associated with a myriad of health consequences including cardiovascular complications, behavioral disturbances, and neurocognitive dysfunction. In contrast, there is a reported OSA prevalence of 31-79% in children with Down Syndrome due to traits that predispose to OSA including hypotonia, obesity, and craniofacial anatomy such as midfacial and mandibular hypoplasia which can lead to pharyngeal crowding. With increased risk of congenital cardiovascular defects in the Down Syndrome population, it is possible that these children are also at risk of the most serious complications of OSA including pulmonary hypertension.

    OSA has also been shown to have a significant impact on quality of life. Behavioral problems associated with OSA include reduced attention, hyperactivity, irritability and problems with peers. Previous studies in the general pediatric population have shown similar quality of life scores in children with symptoms of OSA as children with asthma and rheumatoid arthritis. In children with Down syndrome, reduced sleep has been associated with reduced cognitive function, memory, poor communication skills, and poor self-help skills. Furthermore, parents of children with sleep disordered breathing often suffer from sleep deprivation themselves which can result in negative impacts on family life, decreased ability to care for their children and higher levels of maternal stress.

  2. Subjective Measures of Sleep Disordered Breathing and Obstructive Sleep Apnea: Overnight polysomnography (PSG) is the gold standard for diagnosing OSA in children. However, due to cost and inconvenience, only a minority of patients being evaluated for OSA undergo PSG prior to adenotonsillectomy. One survey study conducted among pediatric otolaryngologists showed that 31% of respondents said they referred children suspected of OSA for PSG "rarely" or "never." In a separate study, 75% of pediatric otolaryngologists surveyed referred for PSG in less than 10% of children with suspected OSA. Commonly cited factors for this include cost of obtaining PSG and delay in obtaining PSG due to availability. In addition, a substantial proportion of patients referred for PSG are either lost to follow-up or experience significant delays in treatment due to testing. As a result, alternative methods of screening for or diagnosing OSA have been explored that are cheaper and less burdensome. This includes a variety of questionnaires that were designed to screen the pediatric population for symptoms of sleep disordered-breathing (SDB) and assess its impact on quality of life within a clinic setting. The Sleep-Related Breathing Disorders subscale of the Pediatric Sleep Questionnaire (SRBD-PSQ) was developed to screen for SDB using 3 categories: daytime sleepiness, snoring, and behavioral disturbances.3 This has previously been validated in children aged 2-18 within the general pediatric population. The OSA-18 is a survey that measures the impact of SDB or OSA on disease-specific quality of life in children by assessing common manifestations of the disease including sleep disturbance, emotional distress, daytime function, and caregiver concerns. This questionnaire has been validated in children ages 6 months to 12 years. Validated subjective measures like these capture different aspects of the disease experience than objective measures like PSG. They can also be used to assess large numbers of patients with far less burden and expense than PSG which frequently has long wait times due to limited capacity.
  3. No Validated Screening instruments or OSA-related QOL measures in Down Syndrome: Despite the high prevalence of OSA in the Down syndrome population and the availability of widely used questionnaires for SDB, screening for SDB is generally inconsistent in this population. Even when parental report of symptoms of SDB is solicited, multiple studies have demonstrated poor diagnostic accuracy of parental history compared to PSG. A recent study investigating parental assessment of the symptoms of SDB found that 66% of Down syndrome patients had frequent symptoms consistent with SDB including snoring, witnessed apnea, and restless sleep. However, there was no association between the frequency of these symptoms and diagnosis with OSA. Other studies have similarly demonstrated poor diagnostic accuracy of parental history with respect to PSG findings. For this reason, the most recent American Academy of Pediatrics (AAP) guideline regarding management of Down syndrome patients has recommended routine screening for OSA using PSG in all patients by the age of 4, regardless of symptomatology. There are currently no validated instruments for screening for OSA or assessing OSA-related quality of life in the Down syndrome population.

Study Type

Interventional

Enrollment (Actual)

81

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Derek Lam, MD
  • Phone Number: 503-494-9419
  • Email: lamde@ohsu.edu

Study Contact Backup

Study Locations

  • United States
    • Oregon
      • Portland, Oregon, United States, 97239
        • Doernbecher Children's Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 years to 17 years (Child)

Accepts Healthy Volunteers

Yes

Description

Inclusion Criteria:

Children with Down syndrome aged 2-17 years who are seen through the Down syndrome clinic at Oregon Health and Science University who either have a recently completed sleep study (within the past 6 months and no surgical treatment for OSA since then) or who will be having a sleep study.

Exclusion Criteria:

  • Presence of tracheostomy
  • Presence of subglottic or tracheal stenosis
  • Severe cardiopulmonary disease requiring supplemental oxygen
  • Parents or caregivers who are unable to read written English or Spanish

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

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

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Questionnaires and sleep studies
Caregivers of patients meeting eligibility criteria will be invited to participate. If they agree to participate, baseline SRBD-PSQ, OSA-18, and PedsQL questionnaires along with written informed consent forms will be mailed to them along with their standard scheduling paperwork. Caregivers will be asked to review the consent form and complete the questionnaires and bring the paperwork to clinic on the day of their visit. Sleep study testing will also be ordered prior to their visit so that it can be scheduled within a month of the initial clinic visit and again three months later.
Other: Sleep study
Sleep study
Other Names:
  • polysomnography

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Apnea-hypopnea index (AHI) from polysomnography
Time Frame: AHI collected at initial sleep study and 3 months later (if a second sleep study is needed as determined by doctor)
Overnight attended polysomnography is the gold standard for diagnosis of OSA. Assessment of sleep staging is done through electroencephalogram, electro-oculogram, and submental electromyogram. The primary output parameter that is commonly used to diagnose and characterize the severity of OSA is the apnea-hypopnea index (AHI).
AHI collected at initial sleep study and 3 months later (if a second sleep study is needed as determined by doctor)

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Sleep Related Breathing Disorder subscale total of the Pediatric Sleep Questionnaire (SRBD-PSQ)
Time Frame: SRBD score tallied at initial clinic visit.
The SRBD-PSQ is a subjective instrument with 22-items that was designed to screen for sleep-related disordered breathing in the general pediatric population. Each question is answered with a yes (1 point), no (0 points), or don't know (0 points). The total number of points is added up, and that sum is divided by the number of questions answered to produce a ratio. When assessing the ratio, a figure greater than 0.3 is considered a positive screening for OSA. There are no subscales on this questionnaire.
SRBD score tallied at initial clinic visit.
Sleep-Related Quality of Life (OSA-18 total score)
Time Frame: OSA-18 total collected at initial clinic visit.
The OSA-18 is a subjective measure of disease-specific quality of life survey for sleep disordered breathing. It contains 18 questions. These questions are scored on a 7 point Likert scale, with "1" being the worst outcome and "7" being the best outcome. These numeric scores are totaled to produce one overall sum, with a range from 7 to 126.
OSA-18 total collected at initial clinic visit.
Generic Quality of Life
Time Frame: PedsQL summary scores collected at initial clinic visit.
The Pediatric Quality of Life Inventory (PedsQL) is a validated generic quality of life measure encompassing 4 multidimensional scales (Physical Functioning, Emotional Functioning, Social Functioning, and School Functioning) with three Summary Scores (Total Score, Physical Health Summary Score, Psychosocial Health Summary Score). The number of questions varies by age group but falls within 20-25 questions. The questions use 5-point Likert scale from 0 (Never) to 4 (Almost always). Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0.). Dimensions are scored by transforming into mean score = Sum of the items over the number of items answered. For each of the 4 scales, higher scores indicate better HRQOL (better outcome).
PedsQL summary scores collected at initial clinic visit.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Oregon Health and Science University

Investigators

  • Principal Investigator: Derek Lam, MD, Oregon Health and Science University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 25, 2018

Primary Completion (Actual)

March 1, 2023

Study Completion (Estimated)

January 1, 2025

Study Registration Dates

First Submitted

August 10, 2018

First Submitted That Met QC Criteria

December 7, 2018

First Posted (Actual)

December 11, 2018

Study Record Updates

Last Update Posted (Actual)

February 8, 2024

Last Update Submitted That Met QC Criteria

February 6, 2024

Last Verified

February 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • STUDY00018522
  • GOTOL0341A (Other Grant/Funding Number: Amer Acad Otolaryngology Head/Neck Surgery Fdtn)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

IPD Plan Description

Only the PI and members of the study team will have direct access to identifiable private information. Subjects will be assigned a unique randomly generated study identification number and extracted datasets will be coded for use in subsequent analysis.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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