Early detection of SMA can help contain medical expenses


If one excludes the treatment price, the costs in the patients identified by early screening were significantly lower than in the patients identified by symptoms

Identifying spinal muscular atrophy (SMA) early and starting treatment can help reduce the overall cost of the disease to society, say researchers whose study results were published in developmental medicine and pediatric neurology identified a wide range of costs between treated and untreated patients.

Compared to patients who received treatment as soon as they showed symptoms, those living with SMA who received treatment later because of early testing — either newborn screening or diagnosis of a sibling — had lower overall costs. The costs identified in the study included direct medical, direct non-medical, and indirect costs, such as B. the societal loss of productivity of patients or caregivers.

Excluding treatment costs, costs were significantly lower in the 14 patients identified by early screening than in the 42 patients identified by symptoms. The researchers highlighted the small cohort of patients identified through early screening as a limitation of the study.

“The annual total cost differences between treated symptomatic patients and patients not identified by symptoms were much smaller in patients with 4 copies of the gene than in those with 2 or 3 copies,” the researchers explained. “Patients with 4 specimens have significantly less severe disability, regardless of whether they are treated early or at all; thus the difference due to early diagnosis is smaller. The positive impact of early treatment on the health status of patients with 2 and 3 copies of the SMN2 The gene also results in significant cost savings.”

About both groups of treated patients and a third group of 93 patients who were untreated, patients who had 2 copies of the SMN2 Gen had the highest incurred costs. Overall, the group of untreated patients had lower total costs than the two groups of treated patients because of the high cost of SMA treatment.

The study also assessed the quality of life (QOL) of the patient groups. Across the PedsQL Generic Core Scale (GCS) and PedsQL Neuromuscular Module (NMM) subscales, patients identified by early screening scored higher than the other 2 groups, although the sample size was not large enough for a formal comparison .

Other QOL findings were:

  • On the PedsQL Family Impact scale, patients identified through early screening were impacted the same way as treated patients identified by symptoms and untreated patients
  • On the PedsQL Family Impact and EQ-5D Visual Analogue Scale subscales, differences between treated patients, identified by symptoms, and untreated patients were not significant

“Our QOL data on PedsQL GCS and NMM compares very well to previous reports. In contrast, those reported by López-Bastida et al. reported EQ-5D-3L utility scores much lower (mean = 0.16, SD = 0.44, maximum = 1) than in the EQ-5D for treated and untreated symptomatic patients with 2 or 3 SMN2 Copies (between 0.34 and 0.45),” the researchers explained. “This could be due, at least in part, to a difference in the populations studied: Of the patients who responded to the EQ-5D in our study, 10%, 58%, and 32% of patients were classified as having SMA Type 1, Type 2, and Type 2, respectively 3, while the distribution in the analysis by López-Bastida et al. 10%, 74% and 16%. Therefore, the previous study included fewer patients with a milder phenotype.”

The researchers found that treated patients identified through early screening were much younger than the rest of the patients, which directly impacted their QOL scores as questionnaires, with the exception of the PedsQL Family Impact scale, pre-aged of were not valid for 2 years and were completed by parents of patients under 6 years of age. The group noted that parents generally considered the family impact of SMA to be severe, even in cases where the child had no symptoms, likely resulting from fears that the disease would get worse.


T. Dangouloff, M. Hiligsmann, N. Deconinck et al. Financial costs and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening. Dev Med Child Neurol. Published online June 8, 2022. doi:10.1111/dmcn.15286


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