Self-reported quality of life has no correlation with functional status in children and adolescents with spinal muscular atrophy

Background: Spinal muscular atrophy is one of the most common neuromuscular disorders in children. Associated with progressive muscular weakness, it may assume a chronic course. In chronic disorders it is of utmost importance to determine the quality of life level. Objective: To determine the level of quality of life in a cohort of SMA children and adolescents, and study its relation to motor ability. Methods: From the children and adolescents with confirmed SMA diagnosis (presence of deletion) followed at a University Hospital, we selected those that were 4 years or older. They were classified as SMA type II or III according to their best motor ability, evaluated according to the modified Hammersmith functional score, and undertook the AUQEI Portuguese version to determine quality of life. This is an Institutional Review Board approved study and consent was given by all those included. Results: Thirty-three children and adolescent with a mean age of 10.28 (+/- 4.71) took part of the study. The fourteen SMA type II had a mean Hammersmith score of 11 (+/- 9.50) and AUQEI of 55.85 (+/- 7.16), while the nineteen SMA type III scored 31.10 (+/- 12.30) and 52.94 (+/- 4.85). No significant difference was found when quality of life scores was compared among those groups. Conclusion: On a self-reported scale it seems that regardless the functional status an SMA child and adolescent has a perception of good quality of life. (C) 2010 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.