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Surveillance for variant CJD: should more children with neurodegenerative diseases have autopsies?
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  • Published on:
    Paediatricians support national epidemiological surveillance.

    We welcome the comments made by Professor Andrew Williams, who has been a great supporter of our UK-wide study of children with progressive intellectual and neurological deterioration (PIND). The PIND Study uses the mechanism provided by the British Paediatric Surveillance Unit (BPSU), which is based in the Royal College of Paediatrics and Child Health. Since 1986 the BPSU has provided paediatricians in the United Kingdom with the means of investigating rare disorders of childhood. As Professor Williams points out there is a need to make research central to good paediatric practice and the BPSU continues to facilitate that.
    The PIND Study is funded by the National Institute for Health Research (NIHR) Policy Research Programme to look for cases of variant Creutzfeldt-Jakob disease (vCJD) among the many neurodegenerative diseases of childhood. Since the PIND Study started in 1997 we have identified children with more than 190 of these rare disorders - that number constantly increases as new diseases and new genetic variants of known diseases are discovered. Thus our study not only provides the sole means of systematically searching for vCJD in children but also gives a unique oversight of the changing pattern of childhood neurodegenerative disease in the UK. We work closely with the National Creutzfeldt-Jakob Disease Research and Surveillance Unit which carries out surveillance for vCJD in adults.
    Professor Williams highlights the fact that our work could not be...

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    Conflict of Interest:
    None declared.
  • Published on:
    Supporting the PIND study as part of good paediatric practice.
    • Andrew N Williams, Professor Consultant Community Paediatrician, Virtual Academic Unit, Childrens' Directorate, Northampton General Hospital, UK

    This most welcome paper by Verity et al relates the important longstanding work that the PIND Study produces and which all paediatricians should most strongly continue to support.[1]

    However, it is important for readers to understand that the PIND Study itself cannot in many cases be expected to be the full story when a child is referred to them.

    Indeed the relationship between the referring paediatrician and the PIND Study group can very helpfully continue long after the patient's death when new investigative technologies can finally provide a definitive diagnosis, so long as the appropriate samples have been appropriately taken. In this area, I have found guidance from the PIND Study can be very helpful.

    We in Northampton have always referred where appropriate to the PIND Study not only because we highly esteem its work, but also because it remains the only practical means of systemic surveillance of vCJD and other neurodegenerative conditions in the UK. Where inspite of every endeavour a diagnosis has not been found while the patient was alive, we in Northampton have continued to keep the PIND Study in the loop while working internationally with other groups to find an answer.

    For one such example, we have had children 2 brothers both referred to the PIND study in the early 2000's with a then undiagnosed condition. Both boys, having had post mortems and DNA storage and working with Professor Baas in the Netherlands were found to hav...

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    Conflict of Interest:
    None declared.