Researchers found that parents of children and adolescents diagnosed with spinal muscular atrophy (SMA) experience a number of psychological stressors, as published in the Orphanet Journal of Rare Diseases.

SMA is a rare disease that causes progressive muscle wasting and weakness. It is also a major genetic cause of death among neonates. There are 2 main types of SMA: type 1 is the most severe and typically manifests in children under 6 years of age; type 2 typically manifests in children between 18 months and 7 years of age. 

“Until a few years ago, standards of care for SMA included most notably palliative care, (non-)invasive ventilation, and gastrostomy for severely affected patients as well as scoliosis surgery and orthotic management for all SMA types,” the authors of the study wrote.

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However, disease-modifying therapies, such as nusinersen and onasemnogene abeparvovec-xioi, have been approved for use in patients with SMA in recent years. These therapeutic options are not curative but can reduce the severity of disease progression.

During the clinical trial phase of these new therapies, researchers assessed the impact of these drugs on patients’ quality of life, but the perspectives of parents and caregivers were rarely sought. Existing studies demonstrate that parents of affected children face significant financial challenges, given that caregivers are usually needed for 10 hours or more per day.

Read more about SMA patient education

The authors of this study hence conducted a systematic literature review using academic search engines to determine the impact of SMA care on parents and caregivers. A total of 24 articles were included in their study.

The results demonstrated that parents were overwhelmingly the informal caregivers of children and adolescents with SMA. In the studies reviewed, SMA type 2 was the most common diagnosis. 

The authors also discovered that parents with affected children demonstrated mental (46% to 84%) and physical (78%) health symptoms of their own. This is especially true shortly after a diagnosis of SMA has been made and if the children suffered from more severe subtypes of SMA.

“Results demonstrate that parents of children and adolescents with SMA experience multiple burdens and reduced quality of life, moderate to high levels of caregiver burden and stress, and often report unmet family needs (e.g., information needs, care integration and management, financial support, adequate supportive care services),” they concluded.

This study highlights the need to focus on the quality of life of both patients with SMA and their parents.


Brandt M, Johannsen L, Inhestern L, Bergelt C. Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needsOrphanet J Rare Dis. 2022;17(1):274. doi:10.1186/s13023-022-02407-5