2025 American Academy of Neurology Abstract Website

Objective:

To conduct a review of our institution’s clinical practices and implement a quality improvement initiative to optimize bone health screening in spinal muscular atrophy (SMA) patients.

Background:

Poor bone health is a recognized but poorly characterized comorbidity of neuromuscular disorders. Up to 85% of SMA patients have low bone mineral density (BMD), yet measures to improve bone health are limited.

Design/Methods:

A retrospective chart review was conducted of SMA patients at our pediatric neuromuscular clinic from February 2016—February 2022, assessing baseline bone health screening. A protocol including annual laboratory studies, dual-energy X-ray absorptiometry (DEXA) in patients > 5 years, vitamin D supplementation and endocrinology referrals was created. 32 months after implementation, chart review was repeated to assess patients who had undergone screening and new fractures were documented.

Results:

23 patients were included in post-implementation analysis. No patients had previously undergone complete screening comparable to the proposed guideline, which improved to six patients (26%) over the study period. The rate of vitamin D level screening improved from 42% to 91%; patients who had at least one other laboratory investigation to assess for bone turnover improved from 0 to 65%. Vitamin D levels were low in 35% of patients. Two eligible patients had previously undergone DEXA; one additional scan was performed out of 17 eligible patients. All three showed Z-scores indicative of low BMD.

Two patients had previous fractures. Over the study period, six additional patients suffered fractures. Five of these were ambulatory patients with a typical mechanism of injury for childhood fractures.

Conclusions:

Low bone mineral density and fractures were common in our SMA patient population, emphasizing the importance of standardized screening protocols. A significant minority of patients had low vitamin D levels. The majority of fractures occurred in young ambulatory patients, demonstrating the changing natural history of SMA in the era of disease-modifying therapy.