Impact of Fatigue, Pain, and Psychological Problems on Perceived Quality of Life in Pediatric SMA Patients

Background/Purpose: In spinal muscular atrophy (SMA), outcome measures, clinical assessment tools and registries primarily focus on motor function. However, from the patient perspective, other factors also significantly contribute to quality of life (QoL). Here, we present data showing the relevance of fatigue, pain and psychological problems in perceived QoL of pediatric patients, emphasizing the need to develop disease-specific, patient-centric measures.

Methods: In 2019, SMA Europe, an umbrella of European patient organizations, conducted a pan European Patient Expectation Survey (EUPESMA-2019) on patient perspectives on treatment expectations and well-being across 18 countries with 1,327 participants. Here, we present pediatric patient-reported experience of fatigue, pain, and psychological problems, and their relation to perceived QoL.

Results: A significant percentage of pediatric patients (N = 665, age: between <2 and <18) reported experiencing fatigue (>80%), pain (>50%), and psychological problems (40%). Fatigue was experienced with similar intensity in all age-groups, while pain and psychological problems increased with age (<40% to >70%, <30% to <50%, respectively). Importantly, more than 75% of them reported at least one of these variables to affect their QoL.

Conclusion: By demonstrating the relevance of fatigue, pain, and psychological problems on patient-perceived QoL in pediatric SMA patients, this study stresses the need for patient-centric measures that not only reflect change in motor function but also reflect the impact of disease on daily life. Importantly, such measures will contribute to capture all areas of drug effectiveness in SMA, and further support access to treatments.

Publication History

Article published online:
28 October 2021