The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure

Sansone, Valeria; Pirola, Alice; Greco, Lucia Catherine; Coratti, Giorgia; Casiraghi, Jacopo; Pane, Marika; Pera, Maria Carmela; Italiano, Cristina; Messina, Sonia; Pozzi, Susanna; Sframeli, Maria; D’Amico, Adele; Bertini, E.; Bruno, Claudio; Mauro, Luca; Salmin, Francesca; Stancanelli, Claudia; Pedemonte, Marina; Albamonte, Emilio; Zizzi, Christine; Heatwole, Chad

doi:10.1016/j.nmd.2021.02.006

Cited by 8 publications

(9 citation statements)

References 18 publications

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“…As in previously published studies, 9,10 results of the current analysis confirm that SMA‐HI scores increase with increasing disease severity. In the previous cross‐sectional study involving 359 adults with SMA (mean age = 42 y; range, 18–81 y), the results were stratified by age group (18 to <42 y vs ≥42 y).…”

Section: Discussionsupporting

confidence: 91%

“…The SMA Health Index (SMA‐HI) is a disease‐specific and validated patient‐reported outcomes measure (PROM) that is used to assess SMA disease burden in individuals aged ≥8 y 9,10 . With 15 disease‐specific domains, the SMA‐HI is capable of identifying clinically meaningful information that may not be adequately captured using common generic PROMs, such as the Health Utilities Index Questionnaire (HUI), the Work Productivity and Activity Impairment Questionnaire (WPAI), and the Pediatric Quality of Life Inventory (PedsQL) 3–7 .…”

Section: Introductionmentioning

confidence: 99%

“…The SMA Health Index (SMA-HI) is a disease-specific and validated patient-reported outcomes measure (PROM) that is used to assess SMA disease burden in individuals aged ≥8 y. 9,10 With 15 diseasespecific domains, the SMA-HI is capable of identifying clinically meaningful information that may not be adequately captured using common generic PROMs, such as the Health Utilities Index Questionnaire (HUI), the Work Productivity and Activity Impairment Questionnaire (WPAI), and the Pediatric Quality of Life Inventory (PedsQL). [3][4][5][6][7] Qualitative reports suggest that even a seemingly minor improvement in just one domain of functioning can have potentially life-altering effects on a person's quality of life and indicate that it may be valuable to examine SMA-HI results for each subdomain in specific populations.…”

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confidence: 99%

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Assessing perspectives of disease burden and clinically meaningful changes using the Spinal Muscular Atrophy Health Index in adolescents and young adults

et al. 2022

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Introduction/Aims Spinal muscular atrophy (SMA) treatment may increase survival and improve physical function among adolescents and young adults. Validated patient‐reported outcome measures are needed to understand which treatment benefits are clinically meaningful and to develop targeted resources for this population. To date, use of the SMA Health Index (SMA‐HI) in pediatric and young adult populations has been limited. Here, we report results from a survey of adolescents and young adults with SMA to quantifiably understand individuals' perceptions of disease burden. Methods Participants aged 12–25 y with a self‐reported diagnosis of SMA completed an online survey containing demographic questions and the SMA‐HI, a patient‐reported outcome measure that assesses individuals' perceptions of disease burden in 15 symptomatic areas. Results Eighty‐eight participants completed the survey. Total SMA‐HI scores and SMA‐HI subscale scores including shoulder and arm function; back, chest, and abdominal function; activity participation; hand and finger strength; swallowing function; gastrointestinal function; respiratory function; mobility and ambulation, and total disease burden were significantly higher (greater disease burden) in patients with poorer motor function and severe SMA. SMA‐HI total and subscale scores were generally lower in adolescents (12–17 y old) versus adults (18–25 y old), suggesting a possible progression of symptomatic disease burden over time. Discussion This study demonstrates the utility of the SMA‐HI for measuring clinically relevant disease burden in adolescents and young adults with SMA. This study demonstrates how disease burden varies by age, SMA type, and other demographics.

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Section: Discussionsupporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

mentioning

confidence: 99%

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Assessing perspectives of disease burden and clinically meaningful changes using the Spinal Muscular Atrophy Health Index in adolescents and young adults

et al. 2022

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“…Data obtained from the cross-sectional study of adults with spinal muscular atrophy has since been used as one of the validation steps to generate a disease-specific patient-reported outcome measure for adults and teenagers with spinal muscular atrophy in both North American and Italian populations. 5,15,16 This sensitive instrument, designed to measure spinal muscular atrophy disease burden, has been found to be reliable, correlate with disease state, be highly acceptable to patients, and be capable of tracking meaningful changes in symptomatic burden. 15,16 Similar efforts are forthcoming to use data from the current study to generate a companion caregiver-reported instrument for clinical trials involving young children with spinal muscular atrophy.…”

Section: Discussionmentioning

confidence: 99%

“…5,15,16 This sensitive instrument, designed to measure spinal muscular atrophy disease burden, has been found to be reliable, correlate with disease state, be highly acceptable to patients, and be capable of tracking meaningful changes in symptomatic burden. 15,16 Similar efforts are forthcoming to use data from the current study to generate a companion caregiver-reported instrument for clinical trials involving young children with spinal muscular atrophy.…”

Section: Discussionmentioning

confidence: 99%

Disease Burden in Children With Spinal Muscular Atrophy: Results From a Large Cross-Sectional Study

et al. 2022

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Background:To facilitate advances in spinal muscular atrophy therapeutic research, it is important to determine the impact and prevalence of symptoms experienced by children with spinal muscular atrophy. Methods: We conducted qualitative interviews with caregivers of children with spinal muscular atrophy. From these interviews, we generated a survey inquiring about 260 symptoms of importance grouped into 17 symptomatic themes. Results: Sixteen caregivers of children with spinal muscular atrophy aged from 4 months to 12 years participated in initial interviews, and 77 caregivers completed the survey. Higher symptom prevalence was associated with spinal muscular atrophy type, SMN2 copy number, and functional status. Hip, thigh, or knee weakness had the greatest reported impact on the lives of children with spinal muscular atrophy. Conclusions: This research provides one of the largest data sets regarding disease burden in children with spinal muscular atrophy. The most prevalent symptoms are not identical to those with the greatest impact. This unique insight into the most impactful symptoms will help focus therapeutic development in spinal muscular atrophy.

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Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach

Trucco,

Salmin,

Lizio

et al. 2023

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Bulbar and jaw muscles are impaired in patients with Spinal Muscular Atrophy (SMA) but the assessment of their severity and progression are limited by the lack of age-appropriate and disease-specific measures. We investigated mastication and swallowing in children and adults with SMA, sitters and walkers. In a 2-year multicentre cross-sectional prospective study, lip and tongue strength (Iowa Oral Performance Instrument), chewing and swallowing (Test of Masticating and Swallowing Solids), active mouth opening (aMMO) were compared to age-appropriate normative data. The perceived burden of oro-bulbar involvement (SMA-Health Index) was recorded. 78 patients were included, 45 children (median age 7.4 years),22 adults (median age 26.8 years) on nusinersen and 11 untreated (median age 32.7 years). Forty-three percent children had reduced mouth opening, 50% had prolonged total time to eat. These issues were more prominent in sitters than in walkers (p = 0.019, p = 0.014). Sixty-six percent needed increased swallows for bolus clearance. Nusinersen treated adults had median aMMO, tongue strength and total time at TOMASS values within normal range (z score: −1.40, −1.22, −1.32, respectively) whereas untreated adults had reduced aMMO (z score: −2.68) and tongue strength (z score: −2.20). Only a minority of children (2/17) and treated adults (5/21) reported burden in swallowing or mastication compared to all untreated adults (5/5). After 16 months, mastication and swallowing were stable in treated children and adults, whether sitters or walkers. The reported multimodal approach to assess oro-bulbar functions demonstrate that swallowing and mastication are impaired in SMA despite patients’ perception. These results suggest a trend towards stabilization of oro-bulbar function in patients on long-term treatment with nusinersen.

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The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure

Cited by 8 publications

References 18 publications

Assessing perspectives of disease burden and clinically meaningful changes using the Spinal Muscular Atrophy Health Index in adolescents and young adults

Assessing perspectives of disease burden and clinically meaningful changes using the Spinal Muscular Atrophy Health Index in adolescents and young adults

Disease Burden in Children With Spinal Muscular Atrophy: Results From a Large Cross-Sectional Study

Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach

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