Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers
Abstract Background There is a need to expand the current scope of assessment tools usually applied to patients with Spinal Muscular Atrophy (SMA). This study aimed to assess the psychometric properties (reliability and discriminant validity) of a set of new patient-reported outcome measures (PROMs)...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-06-01
|
| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03832-y |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849434326348857344 |
|---|---|
| author | Maria Grazia Cattinari Samuel Ignacio Pascual-Pascual Mencía de Lemus Julita Medina María Dumont Pablo Rebollo Juan Francisco Vázquez-Costa |
| author_facet | Maria Grazia Cattinari Samuel Ignacio Pascual-Pascual Mencía de Lemus Julita Medina María Dumont Pablo Rebollo Juan Francisco Vázquez-Costa |
| author_sort | Maria Grazia Cattinari |
| collection | DOAJ |
| description | Abstract Background There is a need to expand the current scope of assessment tools usually applied to patients with Spinal Muscular Atrophy (SMA). This study aimed to assess the psychometric properties (reliability and discriminant validity) of a set of new patient-reported outcome measures (PROMs) called PROfuture, after analysing the performance of individual items of the questionnaires. Results Patients included in the Spanish SMA Patient-Reported Registry (RegistrAME) were invited to answer 10 questionnaires: Fatigability; Pain; Scoliosis and Contractures (S&C); Feeding (F); Breathing and Voice (B&V); Sleep and Rest (S&R); Vulnerability; Infections and Hospitalisations (I&H); Time spent in care (T); and Mobility and Independence (M&I). The diagnosis date, type of SMA, functional classification, and comorbidities were also collected. A total of 160 patients of the 330 included in RegistrAME participated in the study: mean age (SD) 18 (16.6) years, 27.5% non-sitter, 46.88% sitter, and 25.63% walker, 20.0% type 1 SMA, 51.88% type 2, and 28.12% type 3. The frequency of symptoms varied from 43.5% of patients reporting some degree of Pain to 96.3% reporting some degree of Fatigability. The reliability assessed by Cronbach’s alpha coefficient was > 0.75 for all the PROs and > 0.9 for S&C, F, B&V, T, and M&I. Regarding content validity, scores were higher (worse health status) in type 1 SMA patients than in types 2 and 3, and were also higher for non-sitter patients than for sitter and walker patients. Conclusions The ten questionnaires included in the PROfuture set were developed based on what people living with spinal muscular atrophy and their caregivers consider relevant. This preliminary study provides an initial basis to consider their potential usefulness in assessing aspects that matter to this population. The early findings are promising, however, further extensive psychometric evaluation is needed. PROfuture is a new set of patient-reported outcome measures, specifically designed by and for individuals living with spinal muscular atrophy and their caregivers. Future studies will help strengthen the evidence regarding its reliability and validity. |
| format | Article |
| id | doaj-art-18dbf21b22df4c34965c162add2ae0ba |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-18dbf21b22df4c34965c162add2ae0ba2025-08-20T03:26:43ZengBMCOrphanet Journal of Rare Diseases1750-11722025-06-0120111010.1186/s13023-025-03832-yPreliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregiversMaria Grazia Cattinari0Samuel Ignacio Pascual-Pascual1Mencía de Lemus2Julita Medina3María Dumont4Pablo Rebollo5Juan Francisco Vázquez-Costa6Fundacion Atrofia Muscular Espinal España (FundAME)Hospital Universitario La Paz, Universidad Autónoma de MadridFundacion Atrofia Muscular Espinal España (FundAME)Hospital Sant Joan de Deu, Institut de Recerca San Joan de DeuFundacion Atrofia Muscular Espinal España (FundAME)IqviaHospital Universitario y PolitécnicoAbstract Background There is a need to expand the current scope of assessment tools usually applied to patients with Spinal Muscular Atrophy (SMA). This study aimed to assess the psychometric properties (reliability and discriminant validity) of a set of new patient-reported outcome measures (PROMs) called PROfuture, after analysing the performance of individual items of the questionnaires. Results Patients included in the Spanish SMA Patient-Reported Registry (RegistrAME) were invited to answer 10 questionnaires: Fatigability; Pain; Scoliosis and Contractures (S&C); Feeding (F); Breathing and Voice (B&V); Sleep and Rest (S&R); Vulnerability; Infections and Hospitalisations (I&H); Time spent in care (T); and Mobility and Independence (M&I). The diagnosis date, type of SMA, functional classification, and comorbidities were also collected. A total of 160 patients of the 330 included in RegistrAME participated in the study: mean age (SD) 18 (16.6) years, 27.5% non-sitter, 46.88% sitter, and 25.63% walker, 20.0% type 1 SMA, 51.88% type 2, and 28.12% type 3. The frequency of symptoms varied from 43.5% of patients reporting some degree of Pain to 96.3% reporting some degree of Fatigability. The reliability assessed by Cronbach’s alpha coefficient was > 0.75 for all the PROs and > 0.9 for S&C, F, B&V, T, and M&I. Regarding content validity, scores were higher (worse health status) in type 1 SMA patients than in types 2 and 3, and were also higher for non-sitter patients than for sitter and walker patients. Conclusions The ten questionnaires included in the PROfuture set were developed based on what people living with spinal muscular atrophy and their caregivers consider relevant. This preliminary study provides an initial basis to consider their potential usefulness in assessing aspects that matter to this population. The early findings are promising, however, further extensive psychometric evaluation is needed. PROfuture is a new set of patient-reported outcome measures, specifically designed by and for individuals living with spinal muscular atrophy and their caregivers. Future studies will help strengthen the evidence regarding its reliability and validity.https://doi.org/10.1186/s13023-025-03832-ySpinal muscular atrophyPatient reported outcomesPsychometric propertiesQuality of lifeTreatment outcomes |
| spellingShingle | Maria Grazia Cattinari Samuel Ignacio Pascual-Pascual Mencía de Lemus Julita Medina María Dumont Pablo Rebollo Juan Francisco Vázquez-Costa Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers Orphanet Journal of Rare Diseases Spinal muscular atrophy Patient reported outcomes Psychometric properties Quality of life Treatment outcomes |
| title | Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers |
| title_full | Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers |
| title_fullStr | Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers |
| title_full_unstemmed | Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers |
| title_short | Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers |
| title_sort | preliminary psychometric validation of patient reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers |
| topic | Spinal muscular atrophy Patient reported outcomes Psychometric properties Quality of life Treatment outcomes |
| url | https://doi.org/10.1186/s13023-025-03832-y |
| work_keys_str_mv | AT mariagraziacattinari preliminarypsychometricvalidationofpatientreportedoutcomesrelevanttoindividualswithspinalmuscularatrophyandtheircaregivers AT samuelignaciopascualpascual preliminarypsychometricvalidationofpatientreportedoutcomesrelevanttoindividualswithspinalmuscularatrophyandtheircaregivers AT menciadelemus preliminarypsychometricvalidationofpatientreportedoutcomesrelevanttoindividualswithspinalmuscularatrophyandtheircaregivers AT julitamedina preliminarypsychometricvalidationofpatientreportedoutcomesrelevanttoindividualswithspinalmuscularatrophyandtheircaregivers AT mariadumont preliminarypsychometricvalidationofpatientreportedoutcomesrelevanttoindividualswithspinalmuscularatrophyandtheircaregivers AT pablorebollo preliminarypsychometricvalidationofpatientreportedoutcomesrelevanttoindividualswithspinalmuscularatrophyandtheircaregivers AT juanfranciscovazquezcosta preliminarypsychometricvalidationofpatientreportedoutcomesrelevanttoindividualswithspinalmuscularatrophyandtheircaregivers |