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Home oximetry to screen for obstructive sleep apnoea in Down syndrome
  1. Catherine M Hill1,2,
  2. Heather E Elphick3,
  3. Michael Farquhar4,
  4. Paul Gringras4,
  5. Ruth M Pickering1,
  6. Ruth N Kingshott3,
  7. Jane Martin5,
  8. Janine Reynolds3,
  9. Anna Joyce4,
  10. Johanna C Gavlak2,
  11. Hazel J Evans2
  1. 1 Faculty of Medicine, University of Southampton, Southampton, UK
  2. 2 Southampton Children’s Hospital, Southampton, UK
  3. 3 Sheffield Children’s Hospital NHS Foundation Trust, Sheffield, UK
  4. 4 Evelina London Children’s Hospital, Guys St Thomas’s NHS Trust, London, UK
  5. 5 Southampton NIHR Wellcome Trust Clinical Research Facility, Southampton, UK
  1. Correspondence to Dr Catherine M Hill, Division of Clinical Experimental Sciences, University Hospital Southampton, Southampton, SO16 6YD, UK; cmh2{at}


Objective Children with Down syndrome are at high risk of obstructive sleep apnoea (OSA) and screening is recommended. Diagnosis of OSA should be confirmed with multichannel sleep studies. We aimed to determine whether home pulse oximetry (HPO) discriminates children at high risk of OSA, who need further diagnostic multichannel sleep studies.

Design Cross-sectional prospective study in a training sample recruited through three UK centres. Validation sample used single-centre retrospective analysis of clinical data.

Patients Children with Down syndrome aged 0.5–6 years.

Intervention Diagnostic multichannel sleep study and HPO.

Main outcome measures Sensitivity and specificity of HPO to predict moderate-to-severe OSA.

Results 161/202 children with Down syndrome met quality criteria for inclusion and 25 had OSA. In this training sample, the best HPO parameter predictors of OSA were the delta 12 s index >0.555 (sensitivity 92%, specificity 65%) and 3% oxyhaemoglobin (SpO2) desaturation index (3% ODI)>6.15 dips/hour (sensitivity 92%, specificity 63%). Combining variables (delta 12 s index, 3% ODI, mean and minimum SpO2) achieved sensitivity of 96% but reduced specificity to 52%. All predictors retained or improved sensitivity in a clinical validation sample of 50 children with variable loss of specificity, best overall was the delta 12 s index, a measure of baseline SpO2 variability (sensitivity 92%; specificity 63%).

Conclusions HPO screening could halve the number of children with Down syndrome needing multichannel sleep studies and reduce the burden on children, families and health services alike. This approach offers a practical universal screening approach for OSA in Down syndrome that is accessible to the non-specialist paediatrician.

  • down syndrome
  • obstructive sleep apnoea
  • sleep disordered breathing
  • cardiorespiratory polygraphy
  • screening

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  • Contributors CMH, HEE, HJE, RMP and PG designed the study protocol, applied for funding, agreed standard operating procedures, supervised data collection and clinical interpretation of findings in their respective centres and contributed intellectually to the authorship of the paper. RMP performed the data analysis for the training data set and checked the analysis for the clinical data set performed by CMH, who wrote the first draft of the manuscript. RNK developed the polygraphy set up and scoring protocol, undertook data analysis of all polygraphy studies in the training set. JGG performed inter-rater scoring of the training data set polygraphy and supervised the acquisition and analysis of the clinical data set. JM, JR and AJ recruited training set participants, undertook Masimo study analysis and data entry. All authors reviewed and agreed the manuscript.

  • Funding This work was supported by Action Medical Research and the Garfield Weston Foundation (grant reference 2040).

  • Competing interests CMH received a no obligation loan of Masimo pulse oximeters used in the study. These devices were part of the original study design prior to the loan agreement.

  • Ethics approval The study was approved by the UK National Research Ethics Committee (ID: 13/SC/0106) and registered on the NIHR portfolio (ID: 14250).

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement No data are available at present as we are continuing to analyse other aspects of the study data set.