Comprehensive nutritional and metabolic assessment in patients with spinal muscular atrophy: Opportunity for an individualized approach

Neuromuscul Disord. 2018 Jun;28(6):512-519. doi: 10.1016/j.nmd.2018.03.009. Epub 2018 Mar 19.

Abstract

Optimal nutrition support is recommended for patients with spinal muscular atrophy (SMA). In a prospective study, we performed comprehensive nutritional assessments with the aim to guide best nutritional strategies for patients with SMA types II and III. We recorded a) anthropometry; b) macro- and micronutrient intakes; c) measured resting energy expenditure by indirect calorimetry; and d) body composition including dual X-ray absorptiometry. We enrolled a cohort of 21 patients aged 3 to 36 years of which 13 were female; 19 had SMA type II and 2 had SMA type III. The body mass index z-score ranged from -3 to 2.4. Forty-five percent of the cohort was either underfed or overfed, based on the difference between actual energy intake and measured resting energy expenditure. Vitamin D, E, K, folate and calcium intakes were low in a majority of the cohort. Forty-five percent of the cohort was either hypometabolic or hypermetabolic. Fat mass index (kg/m2) was significantly higher and lean body mass index (kg/m2) was significantly lower in the study cohort compared to population normalized values. Bone mineral density was low in 13 of 17 patients. In summary, we have described the prevalence of malnutrition, suboptimal feeding and alterations in body composition in children with SMA. A comprehensive nutritional assessment could guide individualized nutrition therapy in this vulnerable population.

Keywords: Body composition; Bone mineral density, malnutrition, micronutrients; Fat mass; Lean mass; Metabolism; Nutrition; Spinal muscular atrophy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Absorptiometry, Photon
  • Adolescent
  • Adult
  • Body Composition / physiology*
  • Body Mass Index
  • Child
  • Child, Preschool
  • Energy Intake / physiology
  • Energy Metabolism
  • Female
  • Humans
  • Male
  • Muscular Atrophy, Spinal / physiopathology*
  • Nutrition Assessment
  • Nutritional Status*
  • Precision Medicine*
  • Prospective Studies
  • Young Adult