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Quality of Life Research

, Volume 27, Issue 12, pp 3087–3094 | Cite as

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

  • Shalvaree Vaidya
  • Stefan Boes
Review

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.

Keywords

Spinal muscular atrophy Quality of life Literature review PedsQL 

Notes

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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Copyright information

© Springer Nature Switzerland AG 2018
Corrected publication September 2018

Authors and Affiliations

  1. 1.Biogen InternationalUniversity of LucerneLucerneSwitzerland
  2. 2.University of LucerneLucerneSwitzerland

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