title: Nutritional status of patients with ataxia-telangiectasia: A case for early and ongoing nutrition support and intervention.
abstract: OBJECTIVE
  Ataxia-telangiectasia (A-T) is a rare genomic syndrome resulting in severe disability. Chronic childhood disorders can profoundly influence growth and development. Nutrition-related issues in A-T are not well described, and there are no nutritional guidelines. This study investigated the nutrition-related characteristics and behaviours of Australian A-T patients attending a national clinic.
  
  
  METHODS
  A cross-sectional analysis of 13 A-T patients (nine females; aged: 4-23 years): nutritional status was assessed by anthropometric and body cell mass (BCM) calculations. Parents reported their child's diet history and physical and behavioural factors that affect nutrition including fatigue and need for assistance.
  
  
  RESULTS
  Ten (77%) had short stature (height for age z scores <-1), and seven (54%) were underweight for height (weight/height z scores <-1). Significant malnutrition (BCM z scores <-2) was detected in nine (69%) including the one adult who was severely malnourished. Malnutrition increased significantly with age (BCM for height z scores and age, r = -0.937, P < 0.001). Eight (62%) patients ate poorly compared with estimated energy requirement for weight. Poor diet quality was characterised by high fat and sugar choices. Parents reported significant nutritional barriers as chronic tiredness and the need for care giver assistance with meals.
  
  
  CONCLUSIONS
  This study confirms profound malnutrition in Australian A-T patients. Poor intakes and diet quality suggest the need for early nutrition intervention. Ongoing support for families and early discussions on tube feeding are required to address changing needs in childhood and likely nutritional decline into adulthood. A prospective study is required to assess feasibility and effectiveness of nutrition interventions in young people with A-T.
authors: Department of Nutrition and Dietetics, The Royal Brisbane & Women's Hospital, Brisbane, Queensland, Australia.
authors: Lynda J
authors: LJ
authors: Ross
authors: School of Human Movement and Nutrition Sciences, The University of Queensland, Brisbane, Queensland, Australia.
authors: Sandra
authors: S
authors: Capra
authors: School of Human Movement and Nutrition Sciences, The University of Queensland, Brisbane, Queensland, Australia.
authors: Brenton
authors: B
authors: Baguley
authors: Department of Neurology, The Royal Children's Hospital Brisbane, Brisbane, Queensland, Australia.
authors: Kate
authors: K
authors: Sinclair
authors: Department of Neurology, The Royal Children's Hospital Brisbane, Brisbane, Queensland, Australia.
authors: Kate
authors: K
authors: Munro
authors: School of Human Movement and Nutrition Sciences, The University of Queensland, Brisbane, Queensland, Australia.|Department of Neurology, The Royal Children's Hospital Brisbane, Brisbane, Queensland, Australia.|Department of Gastroenterology, The Royal Children's Hospital, Brisbane, Queensland, Australia.|School of Medicine, The University of Queensland, Brisbane, Queensland, Australia.|Queensland Institute of Medical Research (QIMR), Brisbane, Queensland, Australia.
authors: Peter
authors: P
authors: Lewindon
authors: The University of Queensland Centre for Clinical Research, Brisbane, Queensland, Australia.
authors: Martin
authors: M
authors: Lavin
mesh_terms: D000293:Adolescent; D001260:Ataxia Telangiectasia / Q000150:complications*; D001315:Australia; D015992:Body Mass Index; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005221:Fatigue / Q000209:etiology; D005247:Feeding Behavior; D005260:Female; D006801:Humans; D008297:Male; D044342:Malnutrition / Q000209:etiology*; D009752:Nutritional Status; D055815:Young Adult
keywords: developmental; metabolic; neurology; nutrition