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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
Summary
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.
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