Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy

作者：Sproule Douglas M^*; Montes Jacqueline; Dunaway Sally; Montgomery Megan; Battista Vanessa; Koenig**erger Dorcas; Martens Bill; Shen Wei; Punyanitya Mark; Benton Maryjane; Butler Hailly; Caracciolo Jayson; Mercuri Eugenio; Finkel Richard; Darras Basil; De Vivo Darryl C; Kaufmann Petra

来源：Neuromuscular Disorders, 2010, 20(7): 448-452.

DOI：10.1016/j.nmd.2010.05.013

• Spinal muscular atrophy
• Nutrition
• Body composition
• Dual-energy X-ray absorptiometry
• Obesity

The relationship between body composition and function in spinal muscular atrophy (SMA) is poorly understood. 53 subjects with SMA were stratified by type and Hammersmith functional motor scale, expanded score into three cohorts: low-functioning non-ambulatory (type 2 with Hammersmith score <12, n = 19), high-functioning non-ambulatory (type 2 with Hammersmith score >= 12 or non-ambulatory type 3, n = 17), and Ambulatory (n = 17). Lean and fat mass was estimated using dual-energy Xray absorptiometry. Anthropometric data was incorporated to measure fat-free (lean mass in kg/stature in m(2)) and fat (fat mass in kg/stature in m(2)) mass indices, the latter compared to published age and sex norms. Feeding dysfunction among type 2 subjects was assessed by questionnaire. Fat mass index was increased in the high-functioning non-ambulatory cohort (10.4 +/- 4.5) compared with both the ambulatory (7.2 +/- 2.1, P = 0.013) and low-functioning non-ambulatory (7.6 +/- 3.1, P = 0.040) cohorts. 12 of 17 subjects (71%) in the high-functioning non-ambulatory cohort had fat mass index >85th percentile for age and gender (connoting "at risk of overweight") versus 9 of 19 subjects (47%) in the low-functioning non-ambulatory cohort and 8 of 17 ambulatory subjects (47%). Despite differences in clinical function, a similar proportion of low functioning (7/18, 39%) and high functioning (2/7, 29%) type 2 subjects reported swallowing or feeding dysfunction. Non-ambulatory patients with relatively high clinical function may be at particular risk of excess adiposity, perhaps reflecting access to excess calories despite relative immobility, emphasizing the importance of individualized nutritional management in SMA.

• 出版日期2010-7