2016 Dec;101(12):1137-1141. doi: 10.1136/archdischild-2015-310373. Epub 2016 Aug 29.

Author information

Nottingham Children's Hospital, National Paediatric Ataxia Telangiectasia Clinic, QMC, Nottingham, UK.
University of Nottingham, School of Clinical Science, Queens Medical Centre, Child Health, Nottingham, UK.
Nottingham Clinical Genetics Service, National Paediatric Ataxia Telangiectasia Clinic, Clinical Genetics Service, City Hospital Campus, Nottingham, UK.
Imperial College, London, UK.
National Heart and Lung Institute, London, UK.
Royal Brompton & Harefield NHS Foundation Trust, London, UK.



Ataxia telangiectasia (A-T) is a rare multisystem disease with high early mortality from lung disease and cancer. Nutritional failure adversely impacts outcomes in many respiratory diseases. Several factors influence nutrition in children with A-T. We hypothesised that children with A-T have progressive growth failure and that early gastrostomy tube feeding (percutaneous endoscopic gastrostomy, PEG) is a favourable management option with good nutritional outcomes.


Data were collected prospectively on weight, height and body mass index (BMI) at the national paediatric A-T clinic. Adequacy and safety of oral intake was assessed. Nutritional advice was given at each multidisciplinary review.


101 children (51 girls) had 222 measurements (32 once, 32 twice, 24 thrice) between 2009 and 2016. Median (IQR) age was 9.3 (6.4 to 13.1) years. Mean (SD) weight, height and BMI Z-scores were respectively -1 (1.6), -1.2 (1.2) and -0.4 (1.4). 35/101 children had weight Z-scores below -2 on at least one occasion. Weight, height and BMI Z-scores declined over time. Decline was most obvious after 8 years of age. 14/101 (14%) children had a PEG, with longitudinal data available for 12. In a nested case control study, there was a trend for improvement in weight in those with a PEG (p=0.10).


Patients with A-T decline in growth over time. There is an urgent need for new strategies, including an understanding of why growth falters. We suggest early proactive consideration of PEG from age 8 years onwards to prevent progressive growth failure.


Ataxia Telangiectasia; Growth; Immunodeficiency; Nutrition; Respiratory infections

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