RT Journal Article
T1 Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study.
A1 Vázquez-Costa, Juan F
A1 Branas-Pampillón, María
A1 Medina-Cantillo, Julita
A1 Povedano, Mónica
A1 Pitarch-Castellano, Inmaculada
A1 López-Lobato, Mercedes
A1 Fernández-Ramos, Joaquín A
A1 Lafuente-Hidalgo, Miguel
A1 Rojas-García, Ricard
A1 Caballero-Caballero, José M
A1 Málaga, Ignacio
A1 Eirís-Puñal, Jesús
A1 De Lemus, Mencía
A1 Cattinari, María G
A1 Cabello-Moruno, Rosana
A1 Díaz-Abós, Paola
A1 Sánchez-Menéndez, Victoria
A1 Rebollo, Pablo
A1 Maurino, Jorge
A1 Madruga-Garrido, Marcos
K1 Disease burden
K1 Outcome measures
K1 Patients and caregivers
K1 Quality of life
K1 Spinal muscular atrophy
K1 Symptom assessment
AB Outcome measures traditionally used in spinal muscular atrophy (SMA) clinical trials are inadequate to assess the full range of disease severity. The aim of this study was to assess the psychometric properties of a set of existing questionnaires and new items, gathering information on the impact of SMA from the patient and caregiver perspectives. This was a multicenter, prospective, noninterventional study including patients with a confirmed diagnosis of 5q-autosomal-recessive SMA aged 8 years and above, or their parents (if aged between 2 and 8 years). The set of outcome measurements included the SMA Independence Scale (SMAIS) patient and caregiver versions, the Neuro-QoL Fatigue Computer Adaptive Test (CAT), the Neuro-QoL Pain Short Form-Pediatric Pain, the PROMIS adult Pain Interference CAT, and new items developed by Fundación Atrofia Muscular España: perceived fatigability, breathing and voice, sleep and rest, and vulnerability. Reliability, construct validity, discriminant validity, and sensitivity to change (4 months from baseline) were measured. A total of 113 patients were included (59.3% 2-17 years old, 59.3% male, and 50.4% with SMA type II). Patients required moderate assistance [mean patient and caregiver SMAIS (SD) scores were 31.1 (12.8) and 7.6 (11.1), respectively]. Perceived fatigability was the most impacted domain, followed by vulnerability. Cronbach's alpha coefficient for perceived fatigability, breathing and voice, and vulnerability total scores were 0.92, 0.88, and 0.85, respectively. The exploratory factor analysis identified the main factors considered in the design, except in the sleep and rest domain. All questionnaires were able to discriminate between the Clinical Global Impression-Severity scores and SMA types. Sensitivity to change was only found for the SMAIS caregiver version and vulnerability items. This set of outcome measures showed adequate reliability, construct validity, and discriminant validity and may constitute a valuable option to measure symptom severity in patients with SMA.
SN 2193-8253
YR 2022
FD 2022-10-21
LK http://hdl.handle.net/10668/21519
UL http://hdl.handle.net/10668/21519
LA en
DS RISalud
RD Apr 19, 2025