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Behavioral and Emotional Challenges in Children With Spinal Muscular Atrophy
Lakshmi Balaji1, Didu S Kariyawasam1, Karen Herbert2
1Department of Neurology, Sydney Children's Hospital Randwick, Randwick, NSW, Australia; Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, University of New South Wales, Sydney, NSW, Australia.
Insights
Children with spinal muscular atrophy (SMA) often experience emotional and behavioral difficulties, impacting daily life. Early mental health screening and support are crucial for optimizing outcomes in these patients.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Disease-modifying therapies have altered spinal muscular atrophy (SMA) progression, highlighting the need to understand its multisystem effects.
- Cognitive and emotional processes are increasingly recognized as affected in SMA patients.
Purpose of the Study:
- To determine the prevalence of behavioral and emotional issues in children with symptomatic SMA.
- To characterize the specific emotional and behavioral profiles of these children.
Main Methods:
- A single-center, cross-sectional study involving 48 children aged 4-17 years with symptomatic SMA.
- Emotional and behavioral problems were assessed using the Strengths and Difficulties Questionnaire (SDQ).
- Clinical data and quality of life outcomes (Pediatric Quality of Life neuromuscular module) were collected.
Main Results:
- 35.4% of children with SMA showed difficulties on the SDQ, significantly higher than the general population (10%).
- 60.4% had difficulties in at least one SDQ domain, with 25% experiencing issues with hyperactivity, emotional regulation, and conduct.
- Emotional/behavioral difficulties were perceived as a burden by 33.3% of parents and were associated with lower quality of life.
Conclusions:
- Children with SMA exhibit significant emotional and behavioral dysregulation across all motor function levels, negatively affecting daily life.
- These challenges persist despite varying disease severity and treatment advancements.
- Routine mental health surveillance and psychological support are recommended for early identification and intervention to improve health outcomes.
Background:
The use of disease modifying therapies has altered the natural history of spinal muscular atrophy (SMA) leading to changing needs and recognition of multisystem involvement, including cognitive processes. We aimed to investigate the prevalence of, and characterize the behavioral and emotional profiles of children/young people with symptomatic SMA.
Methods:
This single-centre, cross-sectional study of children 4-17 years with symptomatic SMA, assessed emotional and behavioral problems using Strengths and Difficulties Questionnaire (SDQ). Clinical characteristics and parent- and child/young person-reported outcomes (Pediatric Quality of Life neuromuscular module) specific to a neuromuscular disorder were also collated. Fisher's exact, Kruskal-Wallis, and regression tests were used for analyses.
Results:
Forty-eight children were enrolled (median age [interquartile range]: 7.8 years [5.4-11.4]). Total SDQ scores identified difficulties in 17/48 (35.4%) children with SMA, compared to population frequency of 10%; 16/4 8 (33.3%) parents perceived that their child's emotional/behavioral difficulties were burden on the family, which were chronic for 9/16 (56.3%) and substantial for 10/16 (62.5%), interfering with child's everyday life. Difficulties within at least one domain of the SDQ were identified in 29/48 (60.4%). Of the cohort, 12/48(25%) had difficulties in the domains of hyperactivity, emotional regulation and conduct. For those with abnormal SDQ scores, there was significant association with lower total Pediatric Quality of Life neuromuscular module scores (odds ratio: 1.09, 95% confidence intervals: 1.02, 1.16, P = 0.009).
Conclusions:
The study found clinically significant level of emotional and behavioral dysregulation in children/young people with SMA in all categories of motor function, and with negative impact on everyday life. In the context of changing phenotypes and function with treatment, these were evident across varying severities of motor function. These findings support routine mental health surveillance as a means of early identification and intervention, alongside the provision of psychological support to optimize health outcomes.
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