title: Ataxia telangiectasia: presentation and diagnostic delay.
abstract: 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.
  
  
  
  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.
  
  
  
  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).
  
  
  
  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.
authors: Nottingham Children's Hospital, National Paediatric Ataxia Telangiectasia Clinic, QMC, Nottingham, UK.
authors: Rebecca
authors: R
authors: Devaney
authors: Nottingham Clinical Genetics Service, National Paediatric Ataxia Telangiectasia Clinic, Nottingham, UK.
authors: Sara
authors: S
authors: Pasalodos
authors: Nottingham Clinical Genetics Service, National Paediatric Ataxia Telangiectasia Clinic, Nottingham, UK.
authors: Mohnish
authors: M
authors: Suri
authors: Imperial College, National Heart and Lung Institute, Royal Brompton & Harefield NHS Foundation Trust, London, UK.
authors: Andy
authors: A
authors: Bush
authors: Nottingham Children's Hospital, National Paediatric Ataxia Telangiectasia Clinic, QMC, Nottingham, UK.
authors: Jayesh M
authors: 0000-0003-0083-7460
authors: JM
authors: Bhatt
mesh_terms: D000367:Age Factors; D001260:Ataxia Telangiectasia / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D057210:Delayed Diagnosis; D006801:Humans; D007223:Infant; D012189:Retrospective Studies; D000509:alpha-Fetoproteins / Q000378:metabolism
chemical_list: D000509:alpha-Fetoproteins
keywords: Alpha Fetoprotein; Ataxia Telangiectasia; diagnostic delay; presentation delay