Ataxia-telangiectasia (A-T) is a rare, inherited, multisystemic disease involving the nervous, immune, and respiratory systems. The purpose of this study was to determine if there is a delay in presentation and diagnostic confirmation in children who are eventually diagnosed with A-T.

A total of 79 children attending the National Pediatric A-T Clinic in Nottingham, England, seen since 2009 were included.

Data were collected by retrospective chart review and included the age of initial symptoms, age at first presentation to any health care provider, age when α-fetoprotein (AFP) was measured, and age when genetic diagnostic confirmation was made. Presentation delay was the time between the first concern by parents and the first presentation to health care providers, and diagnostic delay was the time between presentation to health care providers and genetic confirmation of the diagnosis.

A total of 71 children (90%) initially presented with ataxia, 16% presented with recurrent infections, and 5% presented with ocular telangiectasias. The median age at the first symptoms was 18 months (range 6–94 months); the median age at the first presentation to health care providers was 29 months (range 10–127 months). The median presentation delay was 8 months (range 0–118 months). The median time of AFP measurement was 60 months (range 23–221 months). All children had genetic confirmation at a median age of 51 months (range 25–178 months). The median diagnostic delay was 12 months (range 1–109 months). Nearly 40% of the children had a confirmatory diagnosis at the age of 5 years or older.

Significant delays were seen in the presentation and diagnostic confirmation of A-T. This may be due to a lack of awareness of this rare condition, leading parents to not seek help for symptoms (presentation delay) and health care providers to be unaware of the presenting symptoms and not order confirmatory laboratory tests (diagnostic delay).

When young children present with ataxia, an easy and inexpensive test to obtain is α-fetoprotein (AFP), which is rarely normal in A-T; this may improve earlier diagnosis of A-T.