Original ArticleFactors associated with referral for polysomnography in children with Down syndrome
Introduction
Down syndrome (DS) is the most common human chromosomal abnormality, characterized by an extra copy of chromosome 21 [1,2]. The global incidence is estimated to be 1 in 700–1000 live births [3]. The rate of live births of children with DS is increasing, paralleling the increase in births to women aged over 35 years [4].
Obstructive sleep apnea (OSA) is the most commonly reported sleep disorder in children with DS [5,6]. OSA is characterized by repeated episodes of upper airway obstruction during sleep with resultant hypoxia, hypercapnia and/or sleep disturbance. Craniofacial abnormalities, including midface and mandibular hypoplasia, hypotonia and glossoptosis contribute to the predisposition for OSA in children with DS [7,8]. Children with DS are also more prone to obesity and reduced muscle tone, which can further compromise airflow through the upper airway.
The prevalence of OSA is reported to be less than 6% in typically developing (TD) children [9], whereas the prevalence of OSA in children with DS ranges from 66% to over 90% in clinical populations [[10], [11], [12]] and between 31% and 61% in non-clinically referred community populations [13,14]. This wide range in the reported prevalence of OSA may be due to different diagnostic methods, varying population sizes and also differences in the ages of the studied children.
Several studies have demonstrated that OSA contributes to difficulties in cognition, behavior and daytime functioning in TD children [[15], [16], [17]] and in children with DS [[18], [19], [20]]. Due to the high prevalence and potential for significant daytime impacts, the American Academy of Pediatrics (AAP) recommends routine polysomnography (PSG) for the detection of OSA in children with DS by the age of four years [2]. Despite this recommendation, nearly a third of children with DS do not undergo a PSG study in that time frame [21]. We have previously shown that children with DS referred for assessment of OSA had more severe OSA compared to a cohort of referred TD children without any major comorbidities [10], suggesting a difference in threshold or triggers for referral for PSG.
The aims of this study were to assess whether there was a difference in OSA severity between children with DS recruited from the community compared to children with DS who present clinically and whether there were differences in clinical factors, sleep, behavior, daytime functioning and quality of life (QOL) that might have triggered referral for testing. We hypothesized that children with DS from the community would exhibit lower OSA severity compared to clinically referred children with DS. However, we anticipated that other sleep and behavioral problems would be more evident in the clinical group which may have motivated parents or doctors to undertake investigation of their child's sleep.
Section snippets
Methods
Ethical approval for this study was granted by the Monash Health and Monash University Human Research Ethics Committees. Written informed consent was obtained from parents.
A total of 44 children aged between 3 and 19 years with DS were recruited from two sources: those clinically referred for assessment of OSA (n = 20) and children recruited from the community (n = 24), via publicity by Down Syndrome Victoria. The publicity material for the study included that the study was about sleep and
Demographics
A total of 44 children participated in this study: 20 children 13 females (60%); median age, 10.4 years (IQR 5.8–14.5 years, range 3.0–17.1 years) were referred to the Sleep Clinic and 24 children 12 females (50%); median age, 7.0 years (IQR 4.5–8.9 years, range 3.7–19.1 years) were recruited from the community. In the community group, 19 children (79%) had never previously undergone a PSG study. Of the remaining five children, three children had one previous PSG before the age of four years.
Discussion
This is the first study to compare laboratory based PSG results and parental questionnaires of sleep, QOL, daytime functioning and behavior between children with DS who were clinically referred for assessment of OSA and a sample of children from the community. Contrary to our hypothesis we found that the presence and severity of OSA was not different between groups and whilst many children scored outside the clinical threshold on parental reports of measures of quality of life, behavior,
Funding sources
This project was supported by the Angior Family and Jack Brockhoff Foundations.
Author credit statement
Poornima R. Wijayaratne: Investigation, Formal analysis, Data curation, Writing – Original draft preparation, Writing – Review & Editing. Katrina Williams: Conceptualisation/Design, Supervision, Resources, Writing – Review & Editing. Margot Davey: Resources, Writing – Review & Editing. Rosemary Horne: Conceptualisation/Design, Methodology, Supervision, Investigation, Data curation, Funding acquisition, Resources, Writing – Review & Editing. Gillian Nixon: Conceptualisation/Design, Methodology,
Acknowledgements
The authors wish to acknowledge the assistance of Dr Lisa Walter and Mr Aidan Weichard for assistance in data collection. We would also like to thank all the parents and their children who participated in the study and the staff of the Melbourne Children's Sleep Centre, where the study was carried out. This project was supported by the Angior Family and Jack Brockhoff Foundations.
Abbreviations and Acronyms
- AAP
- American Academy of Pediatrics
- ABAS
- Adaptive Behavior Assessment Scheme
- ArI
- Arousal index
- BMI
- Body mass index
- CBCL
- Child Behavior Checklist
- CnAHI
- Central apnea hypopnea index
- DS
- Down syndrome
- ESS-CHAD
- Epworth Sleepiness Scale for Children and Adolescents
- IQR
- Interquartile range
- NREM
- Non-rapid eye movement
- OAHI
- Obstructive apnea hypopnea index
- ODI
- Oxygenation desaturation index
- OSA
- Obstructive Sleep Apnea
- PSG
- Polysomnography
- PSSI
- Pediatric Sleep Survey Instrument
- QOL
- Quality of life
- RDI
- Respiratory disturbance index
- REM
- Rapid
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Joint Senior Authorship.