Growth and nutrition in children with ataxia telangiectasia

Background 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. Methods 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. Results 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). Conclusions 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.