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Measuring quality of life in children with spinal muscular atrophy: a systematic literature review

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A Correction to this article was published on 14 September 2018

This article has been updated

Abstract

Objectives

Spinal muscular atrophy (SMA) is a rare, hereditary, autosomal recessive neuromuscular disorder that, in its most severe forms, impacts infants and children. Once symptomatic, it is characterized clinically by a distinct inability to achieve motor milestones, such as the ability to lift the head, sit, stand, or walk. Quality of life (QOL) measurement in very young infants presents a particular challenge. Therefore, this review aims to highlight commonly used measurement tools and identifies future research opportunities for QOL measurement in SMA.

Methods

A systematic literature review was carried out focusing on the various tools used to measure QOL in children < 18 years of age with formally diagnosed SMA type I, II, or III. Although the disease area of interest was SMA, data on Duchenne’s muscular dystrophy were also included because of the rare nature of SMA.

Results

The Pediatric Quality of Life Inventory was the most commonly utilized tool to measure QOL in children; this included the generic and neuromuscular modules. No disease-specific tool to capture QOL in children with SMA was identified. Additionally, no measurement tools exist for very young infants (i.e., under 12 months) with SMA Type 1.

Conclusions

Evolving standards of care will lead to increased interest by stakeholders, on the methods used to measure QOL in infants and children across all types of SMA. Generic tools may not adequately capture QOL changes in SMA, especially given the age group affected by the disease. Further research is required to explore the scope for a disease-focused approach.

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Change history

  • 14 September 2018

    In the original publication of the article, the co-author name “Stefan Boes” has been mistakenly missed out. This has been updated in this correction.

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Funding

Financial support was made possible through a student internship with Biogen international for the corresponding author during the Ph.D. period. This paper was funded through an internship for Shalvaree Vaidya at Biogen International. However, the internship was not contingent on the completion nor results of this review.

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Authors and Affiliations

  1. Biogen International, University of Lucerne, Steinhofstrasse 15C, 6005, Lucerne, Switzerland

    Shalvaree Vaidya

  2. University of Lucerne, Lucerne, Switzerland

    Stefan Boes

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  1. Shalvaree Vaidya
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  2. Stefan Boes
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Corresponding author

Correspondence to Shalvaree Vaidya.

Additional information

The original version of this article was revised: Co-author name has been included and the e-mail address of the corresponding author has been updated.

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Vaidya, S., Boes, S. Measuring quality of life in children with spinal muscular atrophy: a systematic literature review. Qual Life Res 27, 3087–3094 (2018). https://doi.org/10.1007/s11136-018-1945-x

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