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As with any chronic disease, but especially with one that limits the patient鈥檚 mobility or ability to breathe, a heavy burden falls on the caregiver, be it a healthcare professional, close friend, or family member. Quality of life (QoL) can suffer for everyone involved, making it critical to assess QoL at regular intervals.

Questionnaires have proven very valuable in achieving this. The Assessment of Caregiver Experience with Neuromuscular Disease (ACEND), for example, is a questionnaire that quantifies the caregiver鈥檚 views on the affected individual鈥檚 functional motor performance and the caregiver鈥檚 perceived QoL based on the subdomains of emotion, time, and financial burden. Using ACEND, a team of Chicago-based researchers evaluated the QoL of caregivers of children with spinal muscular atrophy (SMA) and its associated effects.

鈥淎s care for individuals with SMA advances, it is important that providers continue to consider caregivers and integrate their QoL concerns by addressing caregiver needs and seeking to ameliorate challenges and stressors for patients and families,鈥� Brown and colleagues commented in their report, which was recently published in the Journal of Clinical Medicine.¹

Assessing the caregiver experience

Caregivers of children with SMA who were receiving drug treatment completed the ACEND survey on at least 3 visits from November 2016 through August 2019.¹ The children, enrolled in a natural history study at the Ann and Robert H. Lurie Children鈥檚 Hospital of Chicago, had varying levels of function: SMA 1 (can鈥檛 sit independently), SMA 2 (can sit, but unable to walk independently), and SMA 3 (can walk, but not necessarily throughout their life span). SMA type, as well as ambulatory and ventilation status, were recorded at each appointment.

The researchers assessed various ACEND parameters, including total ACEND scores, longitudinal changes in total ACEND scores, total QoL scores, and longitudinal changes in total QoL scores. 

A total of 34 children with SMA 1 (n=9), SMA 2 (n=13), or SMA 3 (n=12), with a mean age of 79.3 months, were followed for at least 2 years. Forty-eight parents completed the ACEND survey, including 32 mothers and 16 fathers (which exceeded the number of children since there were different caregivers at various appointments).

Putting the responses into context

The trend in caregivers鈥� total ACEND scores differed by children鈥檚 SMA type (P=.0111), with, as expected, caregivers of children with SMA 1 yielding the lowest scores and caregivers of children with SMA 3 yielding the highest scores.¹

Comparable trends for total ACEND scores were evident for caregivers of children who were non-ambulatory versus ambulatory, and for caregivers of those who were ventilated versus not ventilated. For instance, mean ACEND score was 39.5 points lower for caregivers of children who were non-ambulatory (95% confidence interval [CI] 鈭�53.9 to 鈭�25.1; P<.0001) and 82.28 points higher for caregivers of children who did not need ventilation (95% CI 40.90 to 123.7; P=.0003). 

鈥淭his measure, therefore, has discriminant validity across SMA types and functional groups,鈥� the authors wrote of the total ACEND score.¹

Walking, breathing, and ACEND scores

Total longitudinal ACEND scores increased by 11.27 points per year for the caregivers of children with SMA 2 (95% CI 6.53 to 16.00; P<.0001), 鈥渓ikely indicative of reduced caregiver burden,鈥� Brown and colleagues stated.¹ Total ACEND scores, in contrast, remained stable longitudinally for caregivers of children with SMA 1 and 3. 

For caregivers of children who could walk and caregivers of those who could not walk, the total caregiver ACEND score increased by a mean of 3.96 points per year (95% CI 0.76 to 7.16; P=.0156). By comparison, the mean total caregiver ACEND score for both ventilated and non-ventilated children increased by an average of 5.64 points each year.

The research team found that the correlation between total caregiver ACEND scores and children鈥檚 scores on 3 standardized motor function measures was moderate to strong for each SMA type (Pearson correlations varied from 0.76 to 0.88; P<.0001 for all 3 measures). 

A deeper dive into the data

ACEND subdomains of time constraints, emotional well-being, and financial impact were combined to reflect the caregivers鈥� QoL quotient. Scores were lower by an average of 18.5 points for caregivers of children with SMA 1 versus caregivers of those with SMA 3 (95% CI 鈭�28.6 to 鈭�8.34; P=.0008). In contrast, no differences in total QoL were evident between caregivers of children with SMA 2 and 3 (95% CI 鈭�16.9 to 0.55; P=.0654).

Total QoL scores among caregivers of non-ambulatory children were 8.99 points lower, on average, than the scores of caregivers of ambulatory children (95% CI 鈭�15.6 to 鈭�2.41; P=.0079). Similarly, QoL scores among caregivers of children who were not ventilated were 14.47 points higher, on average, than the scores among caregivers of those who were ventilated (95% CI 1.31 to 27.63; P=.0322).

Even when considering SMA type and ambulatory and ventilatory status, longitudinal changes in caregiver QoL were minimal with the use of disease-modifying therapy, the authors concluded. 

More research is needed

Despite these findings, there鈥檚 more work to be done, Brown and colleagues agreed. 鈥淟arger and longer studies are needed to assess whether these trends are statistically significant,鈥� they commented.¹

鈥淚t is possible that even in lieu of advancements in care and improvements in individual function, caregiver quality of life remains unchanged,鈥� the authors suggested. 鈥淚t is also possible that while the biological needs of the individual are addressed through treatment, the psychosocial and financial needs of the families remain unaddressed, negatively impacted, or even ignored.鈥�¹

As treatment for SMA progresses, the authors concluded, considering caregiver QoL may help to inform and continue to improve the experiences of families and children living with SMA.

Published: April 23, 2024