1376 Supplementary feeding in children with mitochondrial diseases

Résumé fourni par la source

Background Mitochondrial diseases are the most common group of neurometabolic disorders in childhood affecting all age groups. It can present with isolated organ involvement or as multi-system disease. Growth is commonly affected. Short stature and a progressive reduction in body mass index are recognised features of mitochondrial disease. Those children with complex neurodisability may particularly need supplementary feeding due to increased metabolic requirements associated with seizures and movement disorders, and those with cardiomyopathies commonly have increased calorific requirements. Supportive therapies are the mainstay of management for mitochondrial disease, which is currently an incurable condition. Adequate nutrition is essential to support metabolic demands, encourage growth and development, and enhance quality of life. Objective To determine the number of children with mitochondrial disease who receive supplementary feeding and the reasons why supplementary feeding is required. Methods Both authors reviewed the medical records of children aged 1–16 years with known or suspected mitochondrial disease currently attending the NHS Highly Specialised Service for Rare Mitochondrial Diseases in Oxford with evidence of receiving supplementary feeding. Results 45 children aged 1–16 years were included (25 male: 20 female) of whom 35 had confirmatory genetic diagnoses of mitochondrial disease, 8 had biochemical diagnoses only and 2 had suspected mitochondrial disease based on phenotype alone. 12 had a gastrostomy in situ, 3 had a nasogastric tube in situ, 10 were receiving oral supplementation. Reasons for supplementary feeding via gastrostomy or nasogastric tube included growth faltering (73.3%) and unsafe swallow (26.7%). Those children with complex neurodisability were more likely to require nasogastric tube or gastrostomy feeding. Conclusion Children affected by mitochondrial disease have increased metabolic requirements and consideration for supplementary feeding should be made early in order to support growth and development, and enhance quality of life.

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