Identifying key supports and barriers during the transition from pediatric to adult healthcare for individuals living with spinal muscular atrophy: A qualitative study

Technical Summary: Identifying Key Supports and Barriers During the Transition from Pediatric to Adult Healthcare for Individuals Living with Spinal Muscular Atrophy

Problem Statement
The successful development of gene-modifying and SMN-restoring therapies for Spinal Muscular Atrophy (SMA) has significantly improved life expectancy, resulting in a growing population of adults living with the condition. However, a critical knowledge gap exists regarding the transition from pediatric to adult healthcare teams (p/aHCT) for these individuals. While healthcare transition is a universal process, the complexity of SMA care—historically managed within coordinated multidisciplinary clinics (MDCs) in pediatrics—creates unique challenges when moving to adult systems. Previous literature indicates that disjointed transition experiences can lead to patient disengagement, reduced perceived value of care, and negative impacts on mental health. This study addresses the lack of empirical data on the biopsychosocial needs of adults with SMA during this transition, specifically examining the efficacy of current adult care models compared to pediatric standards.

Methodology
This qualitative study employed a non-human-subjects research design approved by the Augustana University Institutional Review Board.

• Participants: Six individuals (aged 18+) with SMA types I, II, or III, diagnosed prior to age 18, and fluent in English. Recruitment utilized a targeted snowball approach via Muscular Dystrophy Canada, researcher social media, and patient support groups.
• Data Collection: A two-step process was used:
  1. A 26-item Qualtrics survey collected demographic data and preliminary transition experiences.
  2. Semi-structured telephone interviews (mean duration: 35.9 minutes) were conducted by a trained genetic counseling student. The interview guide was refined based on literature and community input, focusing on system changes, support resources, mental health, and barriers/facilitators.
• Data Analysis: Interviews were transcribed verbatim and analyzed using a narrative interpretationist framework. Inductive and deductive coding were applied iteratively. Two researchers double-coded the transcripts, resolving inconsistencies through consensus meetings to identify major themes and sub-themes.

Key Contributions and Results
The study identified four major themes characterizing the transition experience, supported by direct participant quotes:

1. Comparisons to Pediatric Care:

   • Pediatric Success: Participants reported high trust and satisfaction with pediatric MDCs, citing coordinated care, experienced providers, and comprehensive support (e.g., school aides, home nursing).
   • Adult Deficits: In contrast, adult care was frequently described as disjointed, uncoordinated, and lacking the "holistic" support of the pediatric system. Participants noted a loss of funding for caregivers and school services upon aging out of pediatric systems.
   • Provider Knowledge Gap: A significant barrier was the lack of SMA-specific knowledge among adult providers. Many participants reported having to "patient-lead" their education, spending time and energy teaching providers about SMA pathophysiology and treatment options (e.g., Spinraza, risdiplam). While some providers were willing to learn, others were described as unwilling or dismissive.

2. Transition Impacts Care:

   • Navigation Challenges: Participants expressed confusion and isolation regarding how to navigate the adult system, often "jumping between doctors" for years without a clear transition plan.
   • Resource Disparities: There was a marked reduction in access to home care, school supports, and financial coverage for treatments in adulthood. One participant noted that funding availability varied by province in Canada.
   • Need for Structure: Participants suggested the implementation of a dedicated transition team or "caseworker" to guide the handoff and a "cheat sheet" of resources to facilitate the move to adult care.

3. Importance of Mental Health Care:

   • Lack of Proactive Discussion: Mental health was rarely discussed proactively by providers. Participants reported self-advocating for mental health resources only after experiencing anxiety or depression.
   • Stigma and Identity: Participants highlighted the psychological burden of societal stigma and the "external barriers" of disability. They expressed a need for counselors who understand disability constructs to avoid the burden of explaining ableism to able-bodied professionals.
   • Community as Support: Connection with the SMA community (e.g., CureSMA, Muscular Dystrophy Canada) and peer mentors was identified as a crucial facilitator for coping and identity formation, though many participants were unaware of these resources until adulthood.

4. Facilitators and Barriers:

   • Facilitators: Effective treatments (nusinersen, risdiplam) improved physical function, allowing for greater independence. Strong family support and community connections were vital.
   • Barriers: The primary barriers included the absence of adult MDCs, limited provider expertise, and the administrative burden placed on the patient to manage their own care coordination.

Significance and Claims
The paper claims that the transition from pediatric to adult care for individuals with SMA is currently suboptimal, characterized by a loss of the coordinated, multidisciplinary support that defines pediatric care. The authors assert that:

• Adult MDCs are Necessary: The absence of adult multidisciplinary clinics contributes to disjointed care and increased patient burden. Implementing adult MDCs could improve satisfaction and health outcomes.
• Provider Education is Critical: Adult providers require specific training on SMA to reduce the need for patient-led education and to foster better therapeutic relationships.
• Mental Health Integration: Mental health discussions must be integrated into the transition process, with a focus on early intervention and the availability of disability-informed counseling.
• Broader Applicability: While focused on SMA, the authors suggest these findings likely mirror the experiences of other patient groups with complex genetic or chronic conditions, highlighting a systemic need for better transition structures regardless of etiology.

The study concludes that while effective treatments have extended the lifespan of individuals with SMA, the healthcare system has not yet adapted to support their long-term medical, psychological, and social needs. The authors call for structured transition protocols, the visibility of disability advocates, and the expansion of adult MDCs to ensure continuity of care.