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Ataxia telangiectasia: presentation and diagnostic delay

Rebecca Devaney1, Sara Pasalodos2, Mohnish Suri2

  • 1Nottingham Children's Hospital, National Paediatric Ataxia Telangiectasia Clinic, QMC, Nottingham, UK.

Archives of Disease in Childhood
|November 2, 2016
PubMed

Insights

Diagnosing Ataxia-Telangiectasia (A-T), a rare genetic disorder, involves significant delays. Earlier identification of A-T symptoms and alpha-fetoprotein (AFP) testing can improve diagnosis times.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Ataxia-Telangiectasia (A-T) is a rare, progressive, multisystem genetic disorder.
  • Families of children with ultra-rare diseases often face diagnostic delays.

Purpose of the Study:

  • To review the diagnostic process for A-T.
  • To identify causes of diagnostic delay for earlier A-T identification.

Main Methods:

  • Retrospective case note review of 79 children at a National Paediatric A-T clinic.
  • Data collected on symptom onset, presentation age, alpha-fetoprotein (AFP) levels, and genetic confirmation age.

Main Results:

  • At presentation, 90% of children had ataxia.
  • Median presentation delay was 8 months; median diagnostic delay was 12 months.
  • Significant delays were observed from initial concern to genetic confirmation.

Conclusions:

  • There are significant delays in A-T presentation and diagnosis.
  • Increased awareness of A-T and early AFP measurement could improve diagnostic timelines.
Abstract

Keywords:
Alpha FetoproteinAtaxia Telangiectasiadiagnostic delaypresentation delay

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