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Original article
Ataxia telangiectasia: presentation and diagnostic delay
  1. Rebecca Devaney1,
  2. Sara Pasalodos2,
  3. Mohnish Suri2,
  4. Andy Bush3,
  5. Jayesh M Bhatt1
  1. 1Nottingham Children's Hospital, National Paediatric Ataxia Telangiectasia Clinic, QMC, Nottingham, UK
  2. 2Nottingham Clinical Genetics Service, National Paediatric Ataxia Telangiectasia Clinic, Nottingham, UK
  3. 3Imperial College, National Heart and Lung Institute, Royal Brompton & Harefield NHS Foundation Trust, London, UK
  1. Correspondence to Dr Jayesh M Bhatt, Nottingham Children's Hospital, National Paediatric Ataxia Telangiectasia Clinic, QMC, Derby Road, Nottingham NG7 2UH, UK; Jayesh.bhatt{at}nuh.nhs.uk

Abstract

Background and aims Ataxia telangiectasia (A-T) is a rare progressive, multisystem genetic disease. Families of children with ultra-rare diseases often experience significant diagnostic delays. We reviewed the diagnostic process for A-T in order to identify causes of delay in an attempt to facilitate earlier identification of A-T in the future.

Methods A retrospective case note review of 79 children at the National Paediatric A-T clinic seen since May 2009. Data were collected on the nature and age of initial symptoms, the age at first presentation, measurement of alpha feto-protein (AFP) and age of genetic diagnostic confirmation.

Results At presentation, 71 children (90%) had ataxia. The median presentation delay (from first parental concern to presentation) was 8 months (range 0–118 months), and the median diagnostic delay (genetic confirmation of diagnosis) was 12 months (range 1–109 months).

Conclusions There are significant delays in presentation and diagnostic confirmation of A-T. A greater awareness of A-T and early measurement of AFP may help to improve this.

  • Ataxia Telangiectasia
  • Alpha Fetoprotein
  • presentation delay
  • diagnostic delay

https://doi.org/10.1136/archdischild-2016-310477

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    Footnotes

    • Contributors JB, RD, MS, SP and AB made substantial contributions to the conception or design of the work, or the acquisition, analysis or interpretation of data. RD, MS, SP, AB and JB: Drafting the work or revising it critically for important intellectual content. JB and AB: Final approval of the version published.

    • Competing interests AB was supported by the NIHR Respiratory Disease Biomedical Research Unit at the Royal Brompton and Harefield NHS Foundation Trust and Imperial College London.

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