Skip to main content

The quality of life in children with spinal muscular atrophy: a case–control study

Abstract

Objectives

This study aimed to analyze the health-related quality of life (HRQoL) of patients with spinal muscular atrophy (SMA) based on the type of SMA, demographic and clinical features and compare HRQoL of these patients with a matched healthy control group. 

Methods

This was a case–control study of Patients with SMA in Iran. Sixty-six patients with SMA type II and III aged 8–18 years and also 264 healthy age, sex, and socio-economic matched individuals were enrolled. To assess the quality of life, we used the Persian version of the KIDSCREEN-27.

Results

The health-related quality of life between children with type II and type III SMA was not significant in all 5 subscales. However, HRQoL in healthy children was significantly higher than in SMA children in all 5 subscales.

Conclusion

The quality of life in children with SMA was lower than the healthy control group in all subscales, and physical well-being and psychosocial aspects are the main domains of life impaired by SMA disease. However, no significant difference between the quality of life in children with SMA type II and type III was observed. 

Peer Review reports

Background

Spinal muscular atrophy (SMA) is an inherited autosomal recessive disease [1] characterized by degeneration of alpha motor neurons of the spinal cord, resulting in generalized muscle weakness and atrophy [2, 3]. SMA is the second fatal neuromuscular disease after cystic fibrosis, with an estimated incidence of about one in 6000–10,000 live births and a carrier frequency of 1/40–1/60 [4, 5].

The clinical manifestations of SMA are divided into three major categories in childhood according to the age of onset and motor function achieved [6]. The spectrum of muscle weakness in SMA ranges from extremely compromised neonates to minimally affected adults with late-onset [6, 7]. Generally, the severe form of SMA is type I which is manifested by muscle weakness and hypotonia. Children who suffer from SMA type II are able to sit, but they need aid for standing or walking; and finally, the mild form of SMA is type III who learn to walk unaided [5, 8].

Since these patients will need nursing support due to losing their motor function or respiratory compromise or nutritional problems in advanced stages [2, 9], they would be dependent on others and therefore their quality of life is touched. Since the severity and timing of these complications vary according to the type of disease [1, 10], this factor can also affect the extent of patient dependency on others. In addition, factors such as the socio-economic status of patients and the level of their access to appropriate health care can have a significant effect on their quality of life [11].

Health-related quality of life (HRQoL) is a multidimensional framework that generally evaluates social, psychological, and physical functioning of a patient [12]. Although HRQoL tools are described according to individual perspective of one’s life status along with personal judgment over patient's health and disease and also norms of the community in where they live [13], various studies indicate these tools are reliable in the assessment of standard cares that patients receive [14, 15]. There are controversy results in subscales of the quality of life in various studies and most of them do not report their results according to SMA type and demographic data [16,17,18,19,20]. In the current research, we aimed to answer the following questions:

First, Does HRQoL of SMA children differ from that of a matched healthy control group? Second, Does HRQoL of children with SMA vary according to SMA type? Third, Does HRQoL of SMA children differ according to demographic and clinical features?

Methods

Participants

We conducted a case–control study on 66 patients diagnosed with SMA aged 8–18 years who were referred to the pediatric neurology department of Tehran University of Medical Sciences where SMA patients were being monitored. We considered this age group because the patients and their parents were both adapted to the disease. We also selected 264 healthy age, sex, and socio-economic matched individuals and their parents from the same school in which patients attended as controls. The inclusion criteria were age range of 8–18 years, SMA diagnosis was done based on clinical manifestations, clinical fitures,electrodiagnosis and confirmed by a genetic test. Clinical features such as respiratory and gastrointestinal diseases were diagnosed through medical examination and obtained retrospectively from patients’ medical records. The exclusion criteria were mental disorders, hearing, or visual impairments, and or any congenital disorder. This study was approved by the ethical committee of Tehran University of Medical Sciences (IR.TUMS.CHMC.REC.1400.063), furthermore written informed consent was taken from all participants’ legal guardians collaborating in this study.

Assessment tools and data collection

To assess the quality of life, we used the Persian version of the KIDSCREEN-27. All versions of this questionnaire, including child and parent’s versions that had been validated for Iranian population aged 8–18 years old [21]. Since mothers usually spend much more time with kids [22], the parent's version of KIDSCREEN-27 was completed mostly by mothers. In our study, the parents and children both completed the questionnaire at home. This questionnaire consists of 5 categories, including physical well-being (5 items), psychological well-being (7 items), parent relationship (7 items), social support and peers (4 items), social environment (4 items). The recall period lasted two weeks, and the higher score revealed a better quality of life.

Statistical analysis

We described the quantitative data using mean and standard deviation (SD) and the categorical data using frequency and percentage. Moreover, we checked the normality assumption of data prior to the analysis, then we compared the health-related quality of life between the SMA types (type II and type III) and also between the case and control groups, using independent-samples T test. The health-related quality of life was also compared according to demographic and clinical features, listed in Table 1. The P-value of less than 0.05 was considered significant. All analyses were performed using SPSS version 24.

Table 1 Comparing the quality of life in SMA children (n = 66) based on demographic and clinical features

Results

Among 66 children with SMA, there were 12 (35.3%) boys and 22 (64.7%) girls with SMA type II, and there were 19 (59.4%) boys and 13 girls (40.6%) with SMA type III. The mean (SD) age of children with type II SMA was 11.3 (3.5), and it was 15.5 (3.4) in children with type III SMA. Based on SMA type, there was no significant difference between the age of boys and girls.

Table 2 indicates that the health-related quality of life between children with type II and type III SMA is not significant in all 5 subscales, both children's and parent's perspectives.

Table 3 demonstrates that the health-related quality of life in healthy children is significantly higher than in SMA children in all 5 subscales, both children's and parents’ perspective. The highest mean difference was observed in physical and psychological well-being. Moreover, no significant difference was detected between children's and parents’ perspectives in reporting health-related quality of life.

Table 2 Comparing the quality of life in children with type II and type III SMA
Table 3 Comparing the quality of life in SMA children with that of a matched healthy control group

The quality of life in children with SMA was varied according to demographic and clinical features. SMA children whose mothers had less than 12 years of education and also SMA children with history of mood disorders had significant lower score in Physical and psychosocial well-being, and also parent relationships. Low education of fathers also associated with all subscales of the SMA children’s quality of life except physical well-being subscale. Each of demographic and clinical variables is associated with a different subscale of quality of life, details have been shown in Table 1.

Discussion

In this case–control study, the quality of life was compared between SMA children and a healthy control group, between type II and type III SMA, and also the quality of life was compared according to demographic and clinical features in children with SMA.

The current study indicated that the quality of life in children with SMA varies from that in the matched healthy control group in all subscales. It is important to note that two subscales of quality of life, including physical and psychosocial well-being, were more affected in SMA patients. A systematic review has recently indicated that all subscales are affected by SMA to some degree, however physical well-being is the main domain of life impaired by SMA [23]. Due to the similarity of locomotion impairment on quality of life in neuromuscular disorders, the most common childhood neuromuscular disorder, Duchenne muscular dystrophy (DMD), was considered in the literature review [24]. Most case–control studies have been indicating that the quality of life varies in all subscales [16,17,18, 25]; however, Zamani et al. [22] observed the low scores in just two subscales, including physical well-being and peers. Opstal et al. [26] observed the low score only in the physical well-being subscale. The differences across studies may be explained by the small sample size and the type of questionnaire used [18], according to a systematic review conducted by Landfeldt et al. [24], 40% of the studies had been done with a small sample size (less than 35).

We did not find any significant difference between the quality of life in children with SMA type II and type III. Since studies have evaluated QoL by different tools [24] and most of them do not report their results according to SMA type, demographic data, or functional ability [19, 20, 27,28,29], it is hard to draw an appropriate conclusion over the observed differences. However, an inverse association has been suggested by some data [23].

This study showed that girls with SMA had a better score in the social environment subscale in compare to the boys. It may be due to different interests and styles of life in different genders in this age group in Iranian children. However, planning for the promotion of this aspect for the both genders to improve their participation in social activities, including supportive consultation, and providing recreational and educational facilities to change the patient's attitudes is recommended [22].

Conclusion

The current study declares that the quality of life in children with SMA varies in comparison with healthy control group in all subscales. However physical well-being and psychosocial aspects are the main domains of life impaired by SMA disease. We did not find any significant difference between the quality of life in children with SMA type II and type III. Furthermore, better social score in girls is seen in comparison with boys with SMA patients that may be due to different interests and styles of life in different genders in this age group in Iranian children. At the time of doing this study none of the patients had access to advanced treatments, for sure the QoL after access to new treatment and the multidisciplinary clinic would differ. So, a new study to evaluate and compare the issue of QoL after access to treatment in these patients is recommended.

Strengths and limitations

Compared to many studies, the strength of our study was comparing the quality of life according to SMA type and some demographic and clinical features. Moreover, the design of our study was case control, which provides more reliable results compared to cross-sectional studies. However, we did not have adequate sample size to analyze our data based on functional status (non-sitter, sitter, walkers).

Availability of data and materials

The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request.

Abbreviations

SMA:

Spinal Muscular Atrophy

HRQoL:

Health-related quality of life

QoL:

Quality of life

DMD:

Duchenne muscular dystrophy

References

  1. Lunn MR, Wang CH. Spinal muscular atrophy. The Lancet. 2008;371(9630):2120–33.

    Article  Google Scholar 

  2. D’Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis. 2011;6(1):1–10.

  3. Kolb SJ, Kissel JT. Spinal muscular atrophy. Neurol Clin. 2015;33(4):831–46.

    Article  Google Scholar 

  4. Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet. 2002;110(4):301–7.

    Article  Google Scholar 

  5. 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 A. 2010;152(7):1608–16.

    Article  Google Scholar 

  6. Mendonça RH, Rocha AJ, Lozano-Arango A, Diaz AB, Castiglioni C, Silva AM, et al. Severe brain involvement in 5q spinal muscular atrophy type 0. Ann Neurol. 2019;86(3):458–62.

    Article  Google Scholar 

  7. Talbot K, Tizzano E. The clinical landscape for SMA in a new therapeutic era. Gene Ther. 2017;24(9):529–33.

    Article  CAS  Google Scholar 

  8. Pera MC, Coratti G, Berti B, D’Amico A, Sframeli M, Albamonte E, et al. Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? PLoS ONE. 2020;15(3):e0230677.

    Article  CAS  Google Scholar 

  9. Messina S, Pane M, De Rose P, Vasta I, Sorleti D, Aloysius A, et al. Feeding problems and malnutrition in spinal muscular atrophy type II. Neuromuscul Disord. 2008;18(5):389–93.

    Article  Google Scholar 

  10. Nicolau S, Waldrop MA, Connolly AM, Mendell JR. Spinal Muscular Atrophy. Semin Pediatr Neurol. 2021;37:100878.

  11. Peña-Longobardo LM, Aranda-Reneo I, Oliva-Moreno J, Litzkendorf S, Durand-Zaleski I, Tizzano E, et al. The economic impact and health-related quality of life of spinal muscular atrophy. An analysis across Europe. Int J Environ Res Public Health. 2020;17(16):5640.

    Article  Google Scholar 

  12. Eiser C, Morse R. A review of measures of quality of life for children with chronic illness. Arch Dis Child. 2001;84(3):205–11.

    Article  CAS  Google Scholar 

  13. Boström K, Ahlström G. Quality of life in patients with muscular dystrophy and their next of kin. Int J Rehabil Res. 2005;28(2):103–9.

    Article  Google Scholar 

  14. Gibson B. Long-term ventilation for patients with Duchenne muscular dystrophy: physicians’ beliefs and practices. Chest. 2001;119(3):940–6.

  15. Grootenhuis MA, De Boone J, Van der Kooi AJ. Living with muscular dystrophy: health related quality of life consequences for children and adults. Health Qual Life Outcomes. 2007;5(1):1–8.

    Article  Google Scholar 

  16. Baiardini I, Minetti C, Bonifacino S, Porcu A, Klersy C, Petralia P, et al. Quality of life in Duchenne muscular dystrophy: the subjective impact on children and parents. J Child Neurol. 2011;26(6):707–13.

    Article  Google Scholar 

  17. Bendixen RM, Senesac C, Lott DJ, Vandenborne K. Participation and quality of life in children with Duchenne muscular dystrophy using the International Classification of Functioning, Disability, and Health. Health Qual Life Outcomes. 2012;10(1):1–9.

    Article  Google Scholar 

  18. Davis SE, Hynan LS, Limbers CA, Andersen CM, Greene MC, Varni JW, et al. The PedsQL™ in pediatric patients with Duchenne muscular dystrophy: feasibility, reliability, and validity of the Pediatric Quality of life inventory neuromuscular module and generic core scales. J Clin Neuromuscul Dis. 2010;11(3):97–109.

    Article  Google Scholar 

  19. de Oliveira CM, Alexandra P. Self-reported quality of life has no correlation with functional status in children and adolescents with spinal muscular atrophy. Eur J Paediatr Neurol. 2011;15(1):36–9.

    Article  Google Scholar 

  20. Kruitwagen-Van Reenen ET, Wadman RI, Visser-Meily JM, van den Berg LH, Schröder C, van der Pol WL. Correlates of health related quality of life in adult patients with spinal muscular atrophy. Muscle Nerve. 2016;54(5):850–5.

    Article  Google Scholar 

  21. Jafari P, Bagheri Z, Safe M. Item and response-category functioning of the Persian version of the KIDSCREEN-27: Rasch partial credit model. Health Qual Life Outcomes. 2012;10(1):1–6.

    Article  Google Scholar 

  22. Zamani G, Heidari M, Malamiri RA, Ashrafi MR, Mohammadi M, Badv RS, et al. The quality of life in boys with Duchenne muscular dystrophy. Neuromuscul Disord. 2016;26(7):423–7.

    Article  Google Scholar 

  23. Landfeldt E, Edström J, Sejersen T, Tulinius M, Lochmueller H, Kirschner J. Quality of life of patients with spinal muscular atrophy: a systematic review. Eur J Paediatr Neurol. 2019;23(3):347–56.

    Article  Google Scholar 

  24. Vaidya S, Boes S. Measuring quality of life in children with spinal muscular atrophy: a systematic literature review. Qual Life Res. 2018;27(12):3087–94.

    Article  Google Scholar 

  25. Elsenbruch S, Schmid J, Lutz S, Geers B, Schara U. Self-reported quality of life and depressive symptoms in children, adolescents, and adults with Duchenne muscular dystrophy: a cross-sectional survey study. Neuropediatrics. 2013;44(05):257–64.

    Article  Google Scholar 

  26. Opstal SHV, Jansen M, van Alfen N, de Groot IJ. Health-related quality of life and its relation to disease severity in boys with Duchenne muscular dystrophy: satisfied boys, worrying parents-a case-control study. J Child Neurol. 2014;29(11):1486–95.

    Article  Google Scholar 

  27. Abresch RT, Carter GT, Jensen MP, Kilmer DD. Assessment of pain and health-related quality of life in slowly progressive neuromuscular disease. Am J Hosp Palliat Med®. 2002;19(1):39–48.

    Article  Google Scholar 

  28. Kocova H, Dvorackova O, Vondracek P, Haberlova J. Health-related quality of life in children and adolescents with spinal muscular atrophy in the Czech Republic. Pediatr Neurol. 2014;50(6):591–4.

    Article  Google Scholar 

  29. López-Bastida J, Peña-Longobardo LM, Aranda-Reneo I, Tizzano E, Sefton M, Oliva-Moreno J. Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain. Orphanet J Rare Dis. 2017;12(1):1–7.

    Article  Google Scholar 

Download references

Acknowledgment

The authors express the gratitude to children with SMA and their parents in addition to Iranian SMA and Muscular dystrophy association.

Funding

No external funding received to conduct this study.

Author information

Authors and Affiliations

Authors

Contributions

GHZ and MH were responsible to the conception, design, analysis. MRA, HG, MGHA and MM reviewed the manuscript for critical intellectual content. RSHB, SH, RH, GP and NKH were responsible to the data collection and interpretation. GHZ and MH were responsible to the fnal approval. All authors read and approved the fnal manuscript

Corresponding authors

Correspondence to Gholamreza Zamani or Morteza Heidari.

Ethics declarations

Ethics approval and consent to participate

All procedures performed in studies involving human participants were in accordance with the ethical standards of 1964 Helsinki declaration. This study was approved by the ethical committee of Tehran University of Medical Sciences (IR.TUMS.CHMC.REC.1400.063), furthermore written informed consent was taken from all participants’ legal guardians collaborating in this study.

Consent for publication

Not applicable.

Competing interests

The authors declare that they have no competing interests.

Additional information

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Zamani, G., Ashrafi, M.R., Ghabeli, H. et al. The quality of life in children with spinal muscular atrophy: a case–control study. BMC Pediatr 22, 708 (2022). https://doi.org/10.1186/s12887-022-03751-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1186/s12887-022-03751-y

Keywords