State Medicaid Telehealth Policies and Rates of Alcohol and Substance Use Treatment at Federally Qualified Health Centers: Does Modality Matter?

Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disorder that affects approximately 1:10,000 live births. It is due to a mutation in the survival motor neuron gene resulting in degeneration of alpha motor neurons and subsequent progressive muscle atrophy and weakness. Each gene is comprised of 9 exons with exon 7 and or 8 being deleted in the gene in SMA. Historically, infants with SMA type 1, the most prevalent type of the disease, progressed to chronic respiratory failure and death in the first two years of life. The discovery and implementation of disease modifying therapies including nusinersen (Spinraza; Biogen, USA), risdiplam (Evrysdi; Roche, Switzerland) and onasemnogene abeparvovec (Zolgensma; Novartis, Switzerland) have resulted in a paradigm-shift in SMA care. Although these therapies result in a milder clinical phenotype, they are not curative. It is estimated that approximately one third of the current SMA population are adults. With these new disease modifying therapies a greater proportion of SMA patients will live to adulthood and will ‘graduate’ from pediatric to adult care. Ideally, the healthcare transition of individuals with SMA is a planned and purposeful process that addresses medical, psychosocial and educational needs. However, young adults with complex medical conditions have frequently been observed to experience adverse outcomes during the pediatric to adult transition such as increased healthcare drop-out, poor treatment adherence, increased illness severity, relapse, and hospitalization. Over the last few decades, transition programs have been developed but few have been systematically evaluated and only one study has evaluated transition in SMA patients. In this study, transition was described as “challenging and scary”. Difficulties were associated with learning to navigate a new and complex healthcare system and engaging with unfamiliar specialists whose approach was impersonal and compartmentalized. In addition to newly transitioning teenagers, there are also growing numbers of adult patients with SMA type 2 and 3 who are continuously seeking specialized, inter-professional neuromuscular care similar to the pediatric care model. These unmet care needs of adult patients with SMA highlights the need for comprehensive integrated care pathways.