Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2017 Apr 4;17(1):68.
doi: 10.1186/s12883-017-0853-y.

A qualitative study of perceptions of meaningful change in spinal muscular atrophy

Sarah McGraw  1 , Ying Qian  2 , Jeff Henne  1 , Jill Jarecki  3 , Kenneth Hobby  4 , Wei-Shi Yeh  5
Affiliations

A qualitative study of perceptions of meaningful change in spinal muscular atrophy

Sarah McGraw et al. BMC Neurol. .

Abstract

Background: This qualitative study examined how individuals with Spinal Muscular Atrophy (SMA), their caregivers, and clinicians defined meaningful change, primarily in the Type II and non-ambulant type III patient populations, associated with treatment of this condition. In addition, we explored participants' views about two measures of motor function routinely used in clinical trials for these SMA subtypes, namely the expanded version of the Hammersmith Functional Motor Scale (HFMSE) and the Upper Limb Module (ULM).

Methods: The 123 participants (21 with SMA, 64 parents, and 11 clinicians), recruited through SMA advocacy organizations, participated in one of 16 focus groups or 37 interviews. The sessions were audio-recorded, and verbatim transcripts were analyzed using a grounded theory approach.

Results: For the participants, meaningful change was relative to functional ability, and small changes in motor function could have an important impact on quality of life. Because patients and families feared progressive loss of functional ability, the participants saw maintenance of abilities as a meaningful outcome. They believed that measures of motor function covered important items, but worried that the HFMSE and ULM might not be sensitive enough to capture small changes. In addition, they felt that outcome measures should assess other important features of life with SMA, including the ability to perform daily activities, respiratory function, swallowing, fatigue, and endurance.

Conclusions: Given the heterogeneity of SMA, it is important to expand the assessment of treatment effects to a broader range of outcomes using measures sensitive enough to detect small changes.

Keywords: Meaningful change; Patient perspectives; Qualitative; Spinal muscular atrophy.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
The meaningful change spectrum
See this image and copyright information in PMC

References

    1. Prior TW, Snyder PJ, Rink BD, Pearl DK, Pyatt RE, Mihal DC, et al. Newborn and carrier screening for spinal muscular atrophy. Am J Med Genet Part A. 2010;152:1608–1616. doi: 10.1002/ajmg.a.33474. - DOI - PubMed
    1. Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens. Eur J Hum Genet. 2012;20:27–32. doi: 10.1038/ejhg.2011.134. - DOI - PMC - PubMed
    1. Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood muscular atrophy. J Med Genet. 1978;15:409–413. doi: 10.1136/jmg.15.6.409. - DOI - PMC - PubMed
    1. Ogino S, Wilson RB, Gold B. New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations. Eur J Hum Genet. 2004;12:1015–1023. doi: 10.1038/sj.ejhg.5201288. - DOI - PubMed
    1. Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51:157–167. doi: 10.1002/mus.24497. - DOI - PMC - PubMed