Maladies Neuromusculaires SOFMER / SFERHE /SFM

Le 15/10/2021 de 16:00 à 17:30

Retour Session


Y a-t-il une association entre les représentations passées et présentes de mobilité et les mesures de la qualité de vie chez les adultes atteints d'amyotrophie spinale génétique?

thymothée Poitou (Reims, France), François Constant Boyer (Reims, France), Charlène Benoit (Reims, France), Jean-Baptiste Ferté (Reims, France), Charlotte Pineau (Reims, France), Redha Taiar (Reims, France), amandine rapin (Reims, France)

Objective : Previous and present levels of functional ability among 5q-SMA adults could later in life determine differentiations in subjective QoL assessments across 5q-SMA populations.

Material / Patients and Methods : Ten adults with 5q-SMA were followed between June 2019 and March 2020 to evaluate the natural history of Qol-gNMD to inform future therapeutic interventions. The main aim was to repeat the baseline measures of patients' functional abilities and subjective measures using the Quality of Life in Genetic Neuromuscular Disease (QoL-gNMD) score monthly (3 domain scores, 0 worst, 100 best QoL). The patients were classified into 3 groups : "Never Walked" (NW) had never walked, "No Longer Walk" (NLW) had lost the ability to walk, "Losing Walking" (LW) concerned patients who were in the process of losing the ability to walk.

Results : For each of the QoL-gNMD domain scores, it was observed that the NW group had the highest scores, the LW group had the lowest scores, and the NLW group had intermediate scores. (Qol-gNMD domain rasched score mean (SD))
Impact of Physical Symptoms : NW 61,69 (3,63), NLW 51,52 (5,32) and LW 44,72 (6,25)
Self-Perception : NW 61,84 (2,87), NLW 51,88(9,22) and LW 45,77(3,37)
Activities and Social Participation: NW 53,76 (2,75), NLW 48,88 (7,07) and LW 41,78 (7,30)

Discussion - Conclusion : Different economic concepts appear applicable in order to predict the responses of 5q-SMA individuals on their mean repeat-measure QoL-gNMD scores in baseline state without intervention, and further to choose subjective value.

Keywords : Quality of life, behavioral economics, spinal muscular atrophies of childhood, adult

Disclosure of interest : none