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Published on: January 12, 2019
Musculoskeletal deformities in children with spinal muscular atrophy: a multicenter cross-sectional study with
Xiaoyue Wang1, Yun Zheng1, Jinhua Lu2
1Department of Rehabilitation, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, No.9 Jinsui Road, Guangzhou 510623, China.
Insights
Musculoskeletal deformities like scoliosis and joint contracture are common in children with spinal muscular atrophy (SMA), especially Type I. Early intervention with Nusinersen and rehabilitation may improve outcomes.
Area of Science:
- Neurology
- Pediatrics
- Rehabilitation Medicine
Background:
- Nusinersen treatment has improved survival in spinal muscular atrophy (SMA) Type I.
- The long-term impact of Nusinersen on musculoskeletal deformities in pediatric SMA patients remains unclear.
Purpose of the Study:
- To determine the prevalence of scoliosis, joint contracture, and hip dislocation in children with SMA.
- To evaluate the efficacy of Nusinersen combined with rehabilitation in managing these musculoskeletal conditions.
Main Methods:
- A multicenter study involving 229 children with SMA, with 83 undergoing 1-2 year longitudinal follow-up post-Nusinersen initiation.
- Data collection included patient demographics, SMA subtype, motor function, and functional scores.
- Radiological assessments and passive range of motion measurements were used to diagnose and quantify musculoskeletal issues.
Main Results:
- High prevalence of musculoskeletal deformities: 59% scoliosis, 62% joint contracture, 21% hip dislocation.
- Age was a significant predictor for all assessed deformities.
- Musculoskeletal issues correlated with younger age, SMA subtype, motor ability, and functional scores.
Conclusions:
- Musculoskeletal deformities are highly prevalent in children with SMA, particularly Type I.
- Age and SMA subtype are key predictors of these conditions.
- An integrated treatment strategy involving Nusinersen and rehabilitation shows promise for stabilizing or improving musculoskeletal health.
Background:
The administration of Nusinersen has extended the life expectancy of children with spinal muscular atrophy (SMA) Type I, while the prevalence and progression of musculoskeletal deformities remain uncertain.
Objectives:
To investigate the prevalence of scoliosis, joint contracture, and hip dislocation in children with SMA, and to assess whether Nusinersen combined with rehabilitation can stabilize or improve musculoskeletal conditions.
Methods:
This multicenter study enrolled 229 children with SMA across nine hospitals in China, with 83 followed longitudinally for 1 to 2 years after Nusinersen initiation. Age, gender, SMA subtype, motor ability, and functional scores were collected. Radiological examinations confirmed scoliosis and hip dislocation, while joint contracture was evaluated through passive range of motion. Spearman's correlation and logistic regression were used to identify associations and predictors.
Results:
Overall, 59% of children had scoliosis, 62% had joint contracture, and 21% had hip dislocation. Among children with SMA Type I, 42% presented scoliosis, 46% joint contracture, and 25% hip dislocation. Age was identified as a significant predictor of musculoskeletal deformities, with the odds of scoliosis increasing by 1.379 per year, joint contracture by 1.303, and hip dislocation by 1.305 (P < 0.01). Musculoskeletal deformities correlated positively with age (P < 0.001) but negatively with SMA subtype (P < 0.01), motor ability (P < 0.05), and HFMSE scores (P < 0.01). During follow-up, scoliosis remained stable in 33% of children at 1 year and 42% at 2 years. Knee contracture stability was observed in 12% at 1 year, while ankle contracture remained stable in 25% at 1 and 2 years, with improvement in 25% at 2 years.
Conclusions:
Musculoskeletal deformities are highly prevalent in children with SMA, particularly among Type I. Age and SMA subtype were significant predictors. Our findings suggest that an integrated approach combining Nusinersen treatment with rehabilitation management may help stabilize or improve musculoskeletal outcomes in this population.
Data Registration Reference:
NCT04089566.
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