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Surveillance for variant CJD: should more children with neurodegenerative diseases have autopsies?
  1. Christopher Verity1,
  2. Anne Marie Winstone1,
  3. Robert Will2,
  4. Alison Powell1,
  5. Peter Baxter3,
  6. Carlos de Sousa4,
  7. Paul Gissen4,
  8. Manju Kurian5,
  9. John Livingston6,
  10. Robert McFarland7,
  11. Suvankar Pal2,
  12. Michael Pike8,
  13. Richard Robinson9,
  14. Evangeline Wassmer10,
  15. Sameer Zuberi11
  1. 1 PIND Research Group, Addenbrooke’s Hospital, Cambridge, UK
  2. 2 The National Creutzfeldt-Jakob Disease Research and Surveillance Unit, Western General Hospital, Edinburgh, UK
  3. 3 Paediatric Neurology Department, Sheffield Children’s NHS Foundation Trust, Sheffield, UK
  4. 4 Neurology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
  5. 5 Institute of Child Health, Great Ormond Street Hospital for Children, London, UK
  6. 6 Paediatric Neurology Department, Leeds General Infirmary, Leeds, UK
  7. 7 Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle upon Tyne, UK
  8. 8 Paediatric Neurology Department, Oxford Children’s Hospital, John Radcliffe Hospital site, Oxford, UK
  9. 9 Paediatric Neurology Department, Guy’s Hospital, London, UK
  10. 10 Paediatric Neurology Department, Birmingham Children’s Hospital, Birmingham, UK
  11. 11 Paediatric Neurosciences Research Group, Royal Hospital for Children and School of Medicine, University of Glasgow, Glasgow, UK
  1. Correspondence to Dr Christopher Verity, PIND Research Group, Box 267, Children’s Services, Addenbrooke’s Hospital, Cambridge CB2 0QQ, UK; christopher.verity{at}addenbrookes.nhs.uk

Abstract

Objectives To report investigations performed in children with progressive neurodegenerative diseases reported to this UK study.

Design Since 1997 paediatric surveillance for variant Creutzfeldt-Jakob disease (vCJD) has been performed by identifying children aged less than 16 years with progressive intellectual and neurological deterioration (PIND) and searching for vCJD among them.

Setting The PIND Study obtains case details from paediatricians who notify via the British Paediatric Surveillance Unit.

Participants Between May 1997 and October 2017, a total of 2050 cases meeting PIND criteria had been notified and investigated.

Results Six children had vCJD. 1819 children had other diagnoses, made in 12 cases by antemortem brain biopsy and in 15 by postmortem investigations. 225 children were undiagnosed: only 3 had antemortem brain biopsies and only 14 of the 108 who died were known to have had autopsies; postmortem neuropathological studies were carried out in just 10% (11/108) and only two had prion protein staining of brain tissue. Of the undiagnosed cases 43% were known to come from Asian British families.

Conclusions Most of the notified children had a diagnosis other than vCJD to explain their neurological deterioration. None of the undiagnosed cases had the clinical phenotype of vCJD but brain tissue was rarely studied to exclude vCJD. Clinical surveillance via the PIND Study remains the only practical means of searching for vCJD in UK children.

  • epidemiology
  • neurology
  • neuropathology

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

https://doi.org/10.1136/archdischild-2018-315458

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    Footnotes

    • Funding This report is based on independent research commissioned and funded by the National Institute for Health Research (NIHR) Policy Research Programme (’To Undertake Prospective Multisource Surveillance for all Cases of Progressive Intellectual and Neurological Deterioration Occurring in Children in the UK' PR-ST-1216-10001).

    • Disclaimer The views expressed in this publication are those of the author(s) and not necessarily those of the NHS, the NIHR, the Department of Health, arm’s length bodies or other government departments.

    • Competing interests None declared.

    • Patient consent Not required.

    • Ethics approval NRES Committee East of England Cambridge Central.

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

    • Data sharing statement No additional data.