113P Quality of life and participation of adults with spinal muscular atrophy: QOLSMA

Abstract

Spinal muscular atrophy is a motoneuron disease caused by a mutation of the SMN1 gene, at the origin of a limb and axial motor deficiency. The specificities of the quality of life of adult patients with SMA remain poorly described, as well as its link with participation as defined by the WHO in the International Classification of Function. This study aims to assess SMA adult patient's quality of life compared to other NMD patients, and to identify determinants of quality of life in SMA patients. Material and Adult individuals with a diagnosis of SMA gave an informed consent and filled an anonymous online questionnaire containing questions about medical and demographic data, the SMA independence scale (SMAIS), the QOLgNMD scale, the Rosenberg self-esteem scale, and questions regarding patients’ participation. 114 individuals were included. QOLgNMD self-perception domain and activities and participation domain were lower in the SMA population compared to the other NMD population (p<0.0001). There was no correlation between quality of life and the Brooke, Vignos or the SMAIS scales. The 3 domains of the QOLgNMD were significantly correlated with the level of stress, the Rosenberg scale and the satisfaction with life scale. SMA patients showed a lower quality of life regarding self-perception and activities and participation compared to other NMDs. However, motor function and independence do not appear to be determinants of quality of life. Assessing the determinants of quality of life is crucial to propose relevant outcomes for the evaluation of therapeutic interventions.