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The risk of malnutrition in children with autism spectrum disorder
  1. Lydia Iris Healy1,
  2. Eimear Forbes2,
  3. Jane Rice2,
  4. Jane M Leonard3,
  5. Ellen Crushell1
  1. 1 National Centre of Inherited Metabolic Disease, Children's Health Ireland at Temple Street, Dublin, Ireland
  2. 2 Department of Nutrtition and Dietetics, Children's Health Ireland at Temple Street, Dublin, Ireland
  3. 3 Department of Neurodisability, Children's Health Ireland at Temple Street, Dublin, Ireland
  1. Correspondence to Dr Lydia Iris Healy, Temple Street Children's University Hospital, Dublin, Ireland; healyli{at}


A 9-year-old boy presented with a 2-day history of vomiting, ataxia and reduced consciousness. He had vomited intermittently in the two preceding months, without headaches, visual disturbance or early morning symptoms. He had autism spectrum disorder, and restricted eating since aged 2 years, eating only corn-crisps, Rich Tea biscuits and chips (French fries), and drinking Coca-Cola (containing 10% glucose; figure 1). Recently a dietician had prescribed a multivitamin.

Figure 1

The patient's complete daily food intake over approximately 7 years (2-3 biscuits per day).

Dietary analysis revealed an extremely low protein (0.37 g/kg/day) and low fat (0.77 g/kg/day) diet for over 7 years with a caloric intake of 1200 kCal. Estimated requirements were 1512 kCal,1 0.92 mg/kg/day of protein2 and 1.94 mg/kg of fat (based on 35% of daily calorie intake3).

On examination he was encephalopathic, with hepatomegaly and ascites. His height and weight were on the 0.4th–2nd and 9th centiles, respectively. Laboratory results demonstrated glucose 2.7 mmol/L, mild anaemia, raised urea (10.7 mmol/L) with normal creatinine and raised hepatic transaminases, low albumin and elevated creatinine kinase (peak 7809 IU/L). He remained encephalopathic and was intubated for poor respiratory function. Ammonia and blood pH were normal.

Question 1 What nutritional/metabolic test(s) would be the next best step?

  1. Vitamin B1 (thiamine) levels

  2. Copper and caeruloplasmin levels

  3. Blood spot for acylcarnitine profile

  4. Plasma amino acid profile

  5. Urine organic acids

Question 2 What potentially dangerous feeding issues in paediatric intensive care exist here?

  1. Electrolyte levels and supplementation

  2. Fat composition of feeds

  3. Amino acid composition of feeds

  4. Vitamin levels

Question 3 Why might this patient have had preserved vitamin E levels?

  1. Vitamin E is added to rancheros

  2. Some vitamin E is obtained from sunlight

  3. French fries are relatively high in vitamin E

  4. Multivitamin preparations

Question 4 What metabolic disorders are associated with very low carnitine levels?

  1. Organic acidaemias

  2. Fatty acid oxidation disorders

  3. Mitochondrial disorders (disorders of respiratory chain)

  4. Maple syrup urine disease (MSUD)

Answers can be found on page 01

  • Autism
  • Diet
  • Malnutrition
  • Metabolic

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  • Contributors LIH took the image and wrote the summary. EC reviewed the summary and provided overall supervision. JR and EF provided dietary analysis. JML provided information of the patient’s inpatient stay, investigations and management.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.