Nutritional status of a large cohort of children with spinal muscular atrophy type 2 (SMA2)

SCHOTTLAENDER, LUCIA V.; SCOTO, MARIACRISTINA; IMBRIGIOTTA, NADIA; DAVIS, TRACEY; MAIN, MARION; MUNOT, PINKI; SARCOZY, ANNA; MANZUR, ADNAN; MUNTONI, FRANCESCO

St Malo

Congreso; 22nd International Annual Congress of the World Muscle Society; 2017

World Muscle society (WMS)

SMA is a recessive disorder caused by mutations in the SMN1 gene characterised by progressive muscle weakness and atrophy. The clinical subtypes are based on age of onset and maximum motor milestones achieved. SMA2 patients present after 6 months and are able to sit but never achieve the ability to walk. Feeding difficulties and malnutrition have been described. The aim of this study is to assess nutrition in SMA2 and its impact on management and motor function. This is a retrospective study reviewing medical records of SMA2 patients followed at the Dubowitz neuromuscular centre (2008?2017). Main parameters reviewed: nutritional status, need for gastrostomy, bone health and Hammersmith functional motor scale (HFMS). Sixty-two patients (median age 10 years; range 2?23) met the inclusion criteria. The mean age of onset was 10.6 months (range 3?18). 6 patients presented before 6 months but were included because their clinical course was consistent with SMA2. Half of our population was underweight (50%; 31/62) while 11% of patients were overweight (7/62). Nearly half (42%; 26/62) needed nutritional supplements of which 42% (11/26) eventually required gastrostomy. Almost one quarter of patients underwent gastrostomy (24%; 15/ 62) at a mean age of 5.7 years. 33% of these had laparoscopic fundoplication for gastroesophageal reflux. Reasons for gastrostomy: risk of aspiration (40%), malnutrition (47%) and respiratory or gastrointestinal problems (20%). Vitamin D insufficiency was detected in 24/62 patients (39%). The maximum HFMS achieved in patients needing gastrostomy (range 1?33/40; median 8.5; mean 12.91) was significantly lower than in patients not requiring gastrostomy (range 3?37/40; median 21.5; mean 19.25) (p