Disability evaluation; MFM; Motor Function Measure; Outcome assessment; Responsiveness; Spinal muscular atrophy; Dermatology; Neurology (clinical); Psychiatry and Mental Health; General Medicine
Abstract :
[en] ("[en] OBJECTIVE: To evaluate sensitivity to change and discriminant validity of the 20-item Motor Function Measure (MFM-20) in 2-7-year-old patients with spinal muscular atrophy types 1 (SMA1) or 2 (SMA2) treated with nusinersen.
METHODS: Children aged 2 to 7 years old with SMA1 or SMA2 treated with nusinersen were assessed at least three times using the MFM-20 over an average follow-up time of 17 months. Evolution of 4-month-standardized MFM-20 scores was calculated for each MFM-20 domain (D1 standing and transfers, D2 axial and proximal, D3 distal) and for the total score (TS).
RESULTS: Included in the study were 22 SMA1 subjects and 19 SMA2 subjects. Baseline MFM scores were significantly lower in patients with SMA1 than SMA2 (TS 29.5% vs. 48.3%, D1 4.5% vs. 10.6%, D2 43.6% vs. 72.6%, D3 51.2% vs. 75.0%). When considering the mean change during nusinersen treatment, standardized over a 4-month period, TS was improved for both SMA1 (+ 4.1%, SRM 1.5) and SMA2 (+ 2.8%, SRM 0.89) patients. For SMA1 patients, considerable changes were observed in D2 (+ 6.2%, SRM 0.89) and D3 (+ 6.0%, SRM 0.72), whereas the change in D1 was small (+ 0.5%, SRM 0.44). In SMA2 2 subjects, D3 was improved to a larger extent (+ 4.2%, SRM 0.53) than D1 (+ 1.8% SRM 0.63) or D2 (+ 3.2%, SRM 0.69).
CONCLUSION: Our results validate use of MFM-20 to monitor function of young SMA1 and SMA2 subjects treated with nusinersen. Significant motor function improvements following treatment were observed in both SMA1 and SMA2 patients.","[en] ","")
Disciplines :
Pediatrics Neurology
Author, co-author :
Le Goff, Laure ; Service de Médecine Physique Et Réadaptation Pédiatrique, Hôpital Femme Mère Enfant, Bron cedex, 69677, Hospices Civils de Lyon, France. laure.le-goff@chu-lyon.fr
Seferian, Andreea; Institut I-MOTION, Hôpital Armand Trousseau, Paris cedex 12, 75571, Paris, France
Phelep, Aurelie; Institut I-MOTION, Hôpital Armand Trousseau, Paris cedex 12, 75571, Paris, France
Rippert, Pascal; Service Recherche Et Epidémiologie Cliniques, Pôle Santé Publique, Bron cedex, 69677, Hospices Civils de Lyon, France
Mathieu, Marie-Laure; Service de Médecine Physique Et Réadaptation Pédiatrique, Hôpital Femme Mère Enfant, Bron cedex, 69677, Hospices Civils de Lyon, France
Cances, Claude; Neuropaediatric Department, AOC (Atlantic-Oceania-Caribbean) Reference Centre for Neuromuscular Disorders, Toulouse University Hospital, Toulouse, France
de Lattre, Capucine; APF ESEAN, 44200, Nantes, France
Durigneux, Julien; CHU Angers, Service de neuropédiatrie et neurochirurgie de l'enfant, 49933, Angers, France
Gousse, Gaelle; CHU Saint-Etienne, Service de pédiatrie, 42270, Saint-Priest-en-Jarez, France
Vincent-Genod, Dominique; Service de Médecine Physique Et Réadaptation Pédiatrique, Hôpital Femme Mère Enfant, Bron cedex, 69677, Hospices Civils de Lyon, France
Ribault, Shams; Service de Médecine Physique Et Réadaptation Pédiatrique, Hôpital Femme Mère Enfant, Bron cedex, 69677, Hospices Civils de Lyon, France
Gomez Garcia de la Banda, Marta; Service de Neurologie Et Réanimation Pédiatriques, APHP Paris Saclay, Hôpital Raymond Poincaré, 92380, Garches, France
Quijano-Roy, Susana; Service de Neurologie Et Réanimation Pédiatriques, APHP Paris Saclay, Hôpital Raymond Poincaré, 92380, Garches, France
Sarret, Catherine; CHU Estaing, Pôle pédiatrie, Service de génétique, Clermont-Ferrand Cedex 1, 69003, Clermont-Ferrand, France
Servais, Laurent ; Centre Hospitalier Universitaire de Liège - CHU > > Service de pédiatrie ; MDUK Oxford Neuromuscular Center, Oxford, UK ; Centre de Référence Neuromusculaire, CHR de La Citadelle, Liège, Belgium
Vuillerot, Carole; Service de Médecine Physique Et Réadaptation Pédiatrique, Hôpital Femme Mère Enfant, Bron cedex, 69677, Hospices Civils de Lyon, France ; Institut Neuromyogène, UMR 5310-INSERM, CNRS, Université de Lyon, Université Lyon 1, 69100, Villeurbanne, France
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