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Clinical features and management of children with primary ciliary dyskinesia in England
  1. Bruna Rubbo1,2,
  2. Sunayna Best3,
  3. Robert Anthony Hirst4,
  4. Amelia Shoemark3,
  5. Patricia Goggin1,2,
  6. Siobhan B Carr3,5,
  7. Philip Chetcuti6,
  8. Claire Hogg3,5,
  9. Priti Kenia7,
  10. Jane S Lucas2,
  11. Eduardo Moya8,
  12. Manjith Narayanan4,9,
  13. Christopher O'Callaghan9,10,
  14. Michael Williamson9,
  15. Woolf Theodore Walker2
  16. on behalf of the English National Children’s PCD Management Service
    1. 1 School of Clinical and Experimental Medicine, Faculty of Medicine, University of Southampton, Southampton, UK
    2. 2 Primary Ciliary Dyskinesia Centre, NIHR Southampton Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK
    3. 3 Department of Paediatric Respiratory Medicine, Paediatric Primary Ciliary Dyskinesia Centre, Royal Brompton and Harefield NHS Foundation Trust, London, UK
    4. 4 PCD Diagnosis and Research, Department of Respiratory Sciences, University of Leicester, Leicester, UK
    5. 5 National Heart and Lung Institute, Imperial College, London, UK
    6. 6 Respiratory Paediatrics, Leeds Teaching Hospitals NHS Trust, Leeds, UK
    7. 7 Department of Respiratory Medicine, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK
    8. 8 Paediatric Department, Bradford Teaching Hospitals NHS Foundation Trust, Bradford, UK
    9. 9 Leicester National Primary Ciliary Dyskinesia diagnosis and management service, University Hospitals of Leicester NHS Trust, Leicester, UK
    10. 10 UCL Great Ormond Street Institute of Child Health, GOSH NIHR BRC, London, United Kingdom
    1. Correspondence to Dr Woolf Theodore Walker, Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK; woolf.walker{at}uhs.nhs.uk

    Abstract

    Objective In England, the National Health Service commissioned a National Management Service for children with primary ciliary dyskinesia (PCD). The aims of this study were to describe the health of children seen in this Service and compare lung function to children with cystic fibrosis (CF).

    Design Multi-centre service evaluation of the English National Management PCD Service.

    Setting Four nationally commissioned PCD centres in England.

    Patients 333 children with PCD reviewed in the Service in 2015; lung function data were also compared with 2970 children with CF.

    Results Median age at diagnosis for PCD was 2.6 years, significantly lower in children with situs inversus (1.0 vs 6.0 years, p<0.001). Compared with national data from the CF Registry, mean (SD) %predicted forced expiratory volume in one second (FEV1) was 76.8% in PCD (n=240) and 85.0% in CF, and FEV1 was lower in children with PCD up to the age of 15 years. Approximately half of children had some hearing impairment, with 26% requiring hearing aids. Children with a lower body mass index (BMI) had lower FEV1 (p<0.001). One-third of children had positive respiratory cultures at review, 54% of these grew Haemophilus influenzae.

    Conclusions We provide evidence that children with PCD in England have worse lung function than those with CF. Nutritional status should be considered in PCD management, as those with a lower BMI have significantly lower FEV1. Hearing impairment is common but seems to improve with age. Well-designed and powered randomised controlled trials on management of PCD are needed to inform best clinical practice.

    • primary ciliary dyskinesia
    • management
    • lung function
    • cystic Fibrosis
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    Footnotes

    • Collaborators Members of the English National Children’s PCD Management Service include: Amanda Harris, Amanda Friend, Victoria Keenan, Hannah Wilkins, Hasnaa Ismail-Koch, Andrea Burgess, Samantha Packham, Patricia Goggin, Gemma Marsh, Laura Baynton, Michael Leshen, Sarah Ollosson, Nicola Collins, Peter Rea, Ann-Louise McDermott, Amanda Parsons, Rajinder Kang, Nicola Lloyd, Alison Truscott, Lynne Schofield, l Knight.

    • Contributors WW, JSL, SC, CH, PC, EM, MN, PK, CO’C and MW developed the concept and design of the study. WW and BR are responsible for the integrity of the study and data; BR led standardised clinical data collection, data management and statistical analyses; WW and BR drafted the manuscript; SB, BR, SC, PK, PC, EM, RH, AS, PG, MN and WW extracted of clinical data from patient record; WW, JSL, SC, CH, PC, EM, MN, PK, CO’C and MW led the diagnostic service and annual reviews at their respective centres; JSL provided guidance and critically reviewed the manuscript at an early draft. All co-authors critically reviewed and approved the final manuscript.

    • Funding The National PCD Service is commissioned and funded by NHS England. Research in Southampton is supported by NIHR Southampton Biomedical Research Centre and NIHR Wellcome Trust Clinical Research Facility. Research in Royal Brompton Hospital is supported by the NHLI, Imperial College London. Research in GOSH is supported by the NIHR GOSH BRC. Research in the University Hospitals of Leicester NHS Trust is supported by University of Leicester, Leicester. Research in Birmingham Women’s and Children’s Hospital NHS Trust is supported by the University of Birmingham and Wellcome Trust Clinical Research Facility.

    • Disclaimer The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health.

    • Competing interests JL reports grants, personal fees and non-financial support from Aerocrine/ Circassia, grants and personal fees from Vertex, grants from Parion, outside the submitted work. SC reports grants, personal fees and non-financial support from Vertex Pharmaceuticals, grants and other from Chiesi Pharmaceuticals, other from Pharmaxis Pharmaceuticals, personal fees from Actavis Pharmaceuticals, other from Profile Pharma, outside the submitted work.

    • Patient consent for publication Not required.

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

    • Data availability statement Data are available upon reasonable request. Data will be made available upon reasonable request by contacting the corresponding author.

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