Assessment of Transition Plan Implementation and Provider Engagement Among Adults Living with Spinal Muscular Atrophy (SMA): Findings from a Cross-Sectional Survey

Abstract

Introduction

Advances in disease-modifying therapies have improved outcomes and survival in spinal muscular atrophy (SMA), resulting in a growing population of adolescents and young adults who must transition from pediatric to adult healthcare systems. Despite longstanding professional guidance supporting structured transition planning, limited data describe how these processes are implemented and experienced in SMA in the United States (U.S.). This study evaluated patient-reported experiences of transition planning and engagement with adult healthcare providers among young adults living with SMA.

Methods

A cross-sectional survey was distributed by email invitation to U.S. adults aged 18–29 years with 5q-SMA listed in the Cure SMA membership database, and interested individuals participated voluntarily. Descriptive analyses summarized transition status, exposure to structured transition elements, coordination practices, and experiences with adult providers. Respondents who had initiated transition were categorized by self-reported transition experience as Excellent/Very good/Good (EVG) or Fair/Poor (FP).

Results

Of 156 responses received (30.4% response rate), 137 met inclusion criteria, and 122 had initiated or completed transition. Among these, 59.0% reported fully transitioning to adult care. Exposure to structured preparation elements was limited overall but more commonly reported by EVG respondents compared with FP respondents, including readiness assessments (28.2% vs. 6.8%), discussions about transition planning (51.3% vs. 17.8%), and receipt of written transition plans (17.5% vs. 7.7%). FP respondents more commonly reported self-coordinating their transition (36.4% vs. 23.1%) and major challenges engaging with adult providers (26.3% vs. 4.6%) compared with EVG respondents. Nearly all respondents (98.0%) reported difficulty accessing adult clinicians with SMA-specific expertise.

Conclusions

Transition experience among young adults with SMA was more closely associated with cumulative exposure to structured preparation elements than with a single transfer event. Broader implementation of provider-led transition practices may improve patient experience, strengthen engagement in adult SMA care, and support care coordination within adult systems where disease-specific expertise remains limited.

Supplementary Information

The online version contains supplementary material available at https://doi.org/10.1007/s40120-026-01012-z.

Plain Language Summary

Spinal muscular atrophy (SMA) is a rare disease that causes progressive muscle weakness. Available treatments have improved health outcomes and more people living with spinal muscular atrophy are entering adulthood. Despite guidance recommending structured transition planning, little is known about how this transition, the move from children’s to adult healthcare, works in practice for people with spinal muscular atrophy in the United States. To learn more, Cure SMA surveyed adults living with spinal muscular atrophy between the ages of 18 and 29 about their transition from pediatric to adult care, and their experiences with adult healthcare providers. The survey found that people who rated their transition positively were more likely to have received structured support beforehand, such as readiness checks, transition planning discussions, and written transition plans. Those who rated their transition experience negatively reported more challenges with adult providers after their transfer to adult healthcare. Nearly all respondents found it difficult to access adult providers with knowledge of spinal muscular atrophy. These findings suggest that a better transition experience was linked to more structured preparation, not just a one-time handoff to adult care. Wider use of provider-led transition planning could improve experiences for young adults with spinal muscular atrophy entering adult healthcare systems.

Supplementary Information

The online version contains supplementary material available at https://doi.org/10.1007/s40120-026-01012-z.

Key Summary Points

Why carry out this study?

Disease-modifying therapies have improved survival and motor outcomes in spinal muscular atrophy (SMA), resulting in a growing population of young adults who require long-term, coordinated care.

Despite national guidance such as the Got Transition Six Core Elements™ framework, transitions to adult care remain fragmented, and U.S. data describing these experiences are limited.

This study evaluated patient-reported experiences among adults living with SMA, focusing on transition preparation practices and provider engagement.

What was learned from the study?

More positive transition experiences aligned with greater cumulative exposure to structured preparation elements, whereas fair or poor experiences more often reflected limited preparation.

These findings support broader implementation of structured, provider-led transition practices to strengthen engagement and care navigation in adult SMA care, even where disease-specific expertise is limited.

Introduction

Spinal muscular atrophy (SMA) is a monogenic neuromuscular disorder characterized by progressive weakness and atrophy of voluntary muscles caused by degeneration and loss of the anterior horn cells in the spinal cord [1, 2]. Analysis of newborn screening data collected in the United States (U.S.) between 2018 and 2022 indicates an overall birth prevalence of approximately 1 in 14,694 live births [3]. Despite its rarity, SMA was the most common genetic cause of infant mortality until treatment became available [4]. Given the substantial symptom burden and morbidity associated with SMA, the development of targeted disease-modifying therapies has marked a pivotal shift in care, substantially altering the natural history of SMA and improving survival and motor outcomes across phenotypes [5–8]. As a result, an increasing number of individuals with SMA now reach adolescence and adulthood, prompting a shift in clinical focus beyond early survival toward comprehensive long-term care planning.

As individuals with SMA reach adulthood, they must navigate several structural and clinical barriers when transitioning from pediatric to adult healthcare systems. In the U.S., individuals legally become adults at age 18; pediatric healthcare systems typically discontinue or limit routine care by age 21; and children’s hospitals transition patients out of pediatric services by age 25, with rare extensions to age 26 depending on the facility [9, 10]. Despite the availability of pediatric-to-adult healthcare transition guidance over the past two decades [11, 12], prior research has shown individuals often receive insufficient transition planning and support, and are frequently transferred to adult systems with limited self-management skills and little experience navigating healthcare systems [13]. These challenges are further compounded by changes in insurance eligibility as youth age out of child-focused public programs and face more restrictive adult coverage criteria, the shift from family-centered pediatric care to disease-centered adult care, and limited availability of adult providers trained to manage complex pediatric-onset conditions [14]. Within SMA specifically, international qualitative studies from Australia and Canada report that adults living with SMA describe the transition to adult care as challenging, citing loss of trusted pediatric teams, fragmented systems, and limited SMA-specific expertise [15, 16]. U.S.-based data describing how transition practices are implemented and experienced remain limited, suggesting that the challenge is not the absence of guidance, but insufficient evidence of how structured transition practices translate into real-world care for people living with SMA.

Against this backdrop of clinical and structural vulnerabilities, national pediatric and adult care organizations have emphasized the importance of provider- and system-led approaches to healthcare transition for adolescents and young adults. The American Academy of Pediatrics (AAP) in collaboration with the American Academy of Family Physicians (AAFP) and the American College of Physicians (ACP) has endorsed formal transition planning recommendations, including the framework outlined in Got Transition’s Six Core Elements of Health Care Transition™ 3.0 [11, 12]. Developed to address persistent gaps in transition preparation and continuity of care, the Six Core Elements quality-improvement framework outlines specific actions for healthcare providers and systems, including establishing a written transition policy, tracking and monitoring transition-aged youth, conducting readiness assessments, developing individualized transition plans, and coordinating transfer and follow-up with adult care teams. By emphasizing early preparation, shared responsibility between pediatric and adult providers, and proactive care coordination, the framework positions healthcare providers and systems as central drivers of successful transition processes, rather than placing the burden on young adults to independently navigate complex healthcare systems [11].

Recognizing these needs, Cure SMA, the largest U.S. patient advocacy organization dedicated exclusively to SMA research and support, developed and administered a survey to evaluate patient-reported perspectives and experiences before and during the transition to adult care. The survey was designed to characterize the extent to which transition planning and provider engagement occur among young adults living with SMA and to assess unmet needs and barriers that may inform strategies to strengthen continuity of care and engagement as individuals living with SMA enter adult healthcare systems.

Methods

Survey Development

A cross-sectional survey was developed by Cure SMA to characterize the transition experiences of adults living with SMA using the Got Transition Six Core Elements framework as a guiding structure [11]. Survey questions were designed to assess perceived healthcare provider involvement in key elements of the transition preparation process including transition readiness assessment, goal setting, transition plan development, provision of self-management guidance, and completion of pre-transition consultations with adult providers. Respondent demographics, SMA-related clinical characteristics, and overall satisfaction with the process were also captured. Transition-focused questions were organized into tracks according to respondents’ self-reported stage of transition to adult care. Respondents who had not yet initiated transition were asked questions regarding their anticipated engagement with pediatric providers. Respondents who reported being partially or fully transitioned to adult care were asked questions about their experiences with adult providers, including whether they had experienced major challenges, minor challenges, or no challenges; these categories reflect self-assessment rather than predefined severity criteria. Respondents who reported major or minor challenges were then asked to identify the specific challenges they encountered by selecting from a predefined list of options. To assess perceived relationship quality, respondents completed Likert-type rating scales. Additional items asked respondents to select opportunities to optimize their experiences in adult healthcare settings from a predefined list of options. The draft survey was reviewed by adults living with SMA and members of the SMA Industry Collaboration to ensure clarity, relevance, and content validity. The complete survey instrument is provided in the Supplementary Material.

Ethical Approval

Recruitment materials, consent language, and survey content were reviewed and approved by the WCG Clinical Solutions Institutional Review Board on July 11, 2021 (IRB tracking number: 20213257). The IRB determined that the study met the criteria for a waiver of documentation of consent under 21 CFR 56.109(c). By proceeding with the survey, participants provided implied consent to participate.

Recruitment

Eligible participants were adults with 5q-SMA, aged 18–29 years, who were listed in the Cure SMA membership database, had opted to receive email communications, and resided in the U.S. or Puerto Rico at the time of survey distribution. The Cure SMA membership database is the largest registry in the U.S. focused on individuals living with SMA and contains records for more than 6000 affected individuals. Based on modeled estimates of SMA prevalence in the general population, the database is considered broadly representative of the U.S. SMA population [17]. A total of 513 individuals met eligibility criteria and were invited to participate via email. Cure SMA administered the online survey using the Alchemer survey platform between August 13 and October 15, 2021. Participants who completed the survey received a US$50 Amazon gift card.

Data Management and Analysis

Survey data were exported from Alchemer to Microsoft Excel for data cleaning and descriptive analysis. Data-cleaning procedures, including criteria for exclusion of incomplete or ineligible responses, are described in the Results section alongside the participant flow diagram. Descriptive statistics were used to summarize participant demographics and survey responses. All analyses were conducted using Microsoft Excel. To explore how exposure to specific transition preparation elements influenced overall transition experiences, respondents were categorized according to their response to the question, “Overall, how would you rate your experience with the transition process from pediatric to adult care?” Given the sample size, responses were dichotomized rather than analyzed across all five categories to facilitate descriptive comparisons between respondents who reported a broadly favorable versus broadly unfavorable transition experience. Responses of “Excellent,” “Very Good,” or “Good” were grouped as EVG and compared with responses of “Fair” or “Poor,” which were grouped as FP. The question was administered only to respondents who indicated they had begun transition preparation, initiated consultations with adult providers, were partially transitioned, or had fully transitioned to adult care. Respondents who had not yet initiated the transition to adult care were excluded from the EVG/FP comparisons and are presented separately in Supplemental Table 1 to describe the characteristics of the overall sample.

Results

A total of 156 responses were received (30.4% response rate) (Fig. 1). Of these, 19 were excluded from analysis: 11 were incomplete, 5 did not meet the eligibility criteria for age, 1 respondent did not have 5q-SMA, and 2 were duplicate submissions (for which the most recent response was retained). The final sample included 137 respondents. Participant characteristics were summarized and stratified by transition status (transition planning initiated or completed vs. transition planning not initiated). Respondents who had initiated transition planning were also stratified by self-reported experience with transition planning, and categorized as EVG or FP, as described in the Methods.

Fig. 1.

Study sample and data stratification

Participant Characteristics

Across transition status groups, demographic characteristics were generally similar (Table 1). Most respondents overall self-identified as female, white, and non-Hispanic. Across all respondents, 65.0% reported female sex, 31.4% male sex, and 2.2% non-binary. Sex distributions were comparable across stratified groups, with similar patterns observed in EVG, FP, and not yet initiated transition cohorts. Most respondents identified as white (74.5% overall), and ethnicity distributions were similar across groups, with 8.8% identifying as Hispanic or Latinx and 91.2% identifying as not Hispanic or Latinx.

Table 1.

Demographic and SMA-related characteristics of respondents

Characteristic, n (%)	All respondents	Transition planning initiated or completeda		Transition planning not initiated
		Excellent/Very good/Good	Fair/Poor
	n = 137	n = 78	n = 44	n = 15
Sex
Male	43 (31.4)	28 (35.9)	10 (22.7)	5 (33.3)
Female	89 (65.0)	47 (60.3)	32 (72.7)	10 (66.7)
Non-binary	3 (2.2)	2 (2.6)	1 (2.3)	0 (0)
Prefer not to answer	2 (1.5)	1 (1.3)	1 (2.3)	0 (0)
Race
White	102 (74.5)	56 (71.8)	36 (81.8)	10 (66.7)
Non-white	33 (24.1)	21 (26.9)	7 (15.9)	5 (33.3)
Prefer not to answer	2 (1.5)	1 (1.3)	1 (2.3)	0 (0)
Ethnicity
Hispanic or Latinx	12 (8.8)	7 (9.0)	3 (6.8)	2 (13.3)
Not Hispanic or Latinx	125 (91.2)	71 (91.0)	41 (93.2)	13 (86.7)
Age at time of survey completion
Age 18–20	25 (18.2)	13 (16.7)	5 (11.4)	7 (46.7)
Age 21–24	52 (38.0)	32 (41.0)	15 (34.1)	5 (33.3)
Age 25–29	60 (43.8)	33 (42.3)	24 (54.5)	3 (20.0)
Insurance typeb
Medicare	32 (23.6)	14 (17.9)	12 (27.3)	6 (40.0)
Medicaid	89 (65.0)	50 (64.1)	31 (70.5)	8 (53.3)
Private or ACA	61 (44.5)	35 (44.9)	19 (43.2)	7 (46.7)
SMA type
Type I	14 (10.2)	7 (9.0)	5 (11.4)	2 (13.3)
Type II	85 (62.0)	47 (60.3)	31 (70.5)	7 (46.7)
Type III	35 (25.5)	21 (26.9)	8 (18.2)	6 (40.0)
Type IV	3 (2.2)	3 (3.8)	0 (0)	0 (0)
SMN2 copy number
1	4 (2.9)	2 (2.6)	1 (2.3)	1 (6.7)
2	19 (13.9)	13 (16.7)	5 (11.4)	1 (6.7)
3	31 (22.6)	15 (19.2)	10 (22.7)	6 (40.0)
4	8 (5.8)	7 (9.0)	1 (2.3)	0 (0)
5 or more	3 (2.2)	2 (2.6)	1 (2.3)	0 (0)
Don’t know	72 (52.6)	39 (50.0)	26 (59.1)	7 (46.7)

^aInclusive of individuals that are preparing to transition to adult care, preparing to transition with adult consults initiated, partially transitioned, or fully transitioned to adult care (see Table 2)

^bRespondents could indicate “Yes” to multiple insurances

Age distributions differed by transition experience and initiation status. The largest proportion of respondents overall were aged 25–29 years (43.8%). A higher proportion of FP respondents were aged 25–29 years (54.5%) compared with EVG respondents (42.3%). In contrast, respondents who had not yet initiated transition were younger overall, with 46.7% aged 18–20 years, representing the youngest age distribution of the three groups.

Educational attainment, employment status, and household income showed similar patterns across groups (Supplemental Table 2). Overall, 42.3% reported a bachelor’s degree or higher, 28.5% reported some college or vocational training, and 29.2% reported a high school diploma or less. The most common employment status overall was not employed and not seeking employment (32.8%), and this was highest among respondents who had not yet initiated transition (53.3%). Among respondents who reported household income, the majority across all respondents and stratified cohorts reported annual household incomes below $70,000.

Insurance coverage was similar across groups (Table 1). Medicaid was the most commonly reported insurance type overall (65.0%), followed by private or Affordable Care Act (ACA) coverage (44.5%) and Medicare (23.6%).

Clinical characteristics were similar across all groups. Type II SMA was the most commonly reported type. More than half of respondents overall (52.6%) reported they did not know their SMN2 copy number, with similar proportions observed across EVG, FP, and the not yet initiated transition groups.

Transition Status and Elements of Transition Planning

Survey items in this section reflect multiple components of the transition process, including timing of transition, coordination of care, planning activities, and early engagement with adult healthcare providers.

Among respondents who had not initiated transition to adult care (n = 15), the most commonly reported planned age range for transition was 21–24 years (40.0%) (Supplemental Table 1). Although most respondents (60.0%) reported being unsure whether they would like to initiate transition discussions with their pediatric providers, the majority indicated that creation of a transition plan and educational materials (60.0% and 73.3%, respectively), would be helpful for navigating the transition planning process.

Among respondents who had initiated transition planning or completed transition to adult care (n = 122), 59.0% reported having fully transitioned to adult healthcare providers, with similar distributions between EVG (60.3%) and FP (56.8%) respondents (Table 2). An additional 25.4% of respondents reported being partially transitioned, while 15.5% reported they were preparing to transition, including those who had initiated consults with adult providers. Anticipated or actual age at transition differed by transition experience. Among EVG respondents, the most commonly reported age category for actual or anticipated transition was 18–20 years (51.7%), whereas among FP respondents, the most commonly reported category was 21–24 years (54.8%).

Table 2.

Transition status and coordination among respondents who initiated or completed the transition to adult care

Healthcare transition characteristics, n (%)	All respondentsa	Excellent/Very good/Good	Fair/Poor
	n = 122	n = 78	n = 44
Transition status
Preparing to transition	17 (13.9)	12 (15.4)	5 (11.4)
Preparing to transition; adult consults initiated	2 (1.6)	1 (1.3)	1 (2.3)
Partially transitioned	31 (25.4)	18 (23.1)	13 (29.5)
Fully transitioned to adult care	72 (59.0)	47 (60.3)	25 (56.8)
Anticipated or actual age at transitionb
Age 18–20	43 (47.3)	31 (51.7)	12 (38.7)
Age 21–24	40 (44.0)	23 (38.3)	17 (54.8)
Age 25–29	5 (5.5)	3 (5.0)	2 (6.5)
Unknown/I don’t know	3 (2.5)	3 (3.8)	0 (0)
Pediatric healthcare provider responsible for transition to adult healthcare
Pediatrician, general practitioner, or nurse practitioner	35 (28.7)	23 (29.5)	12 (27.3)
Pediatric neurologist	29 (23.8)	22 (28.2)	7 (15.9)
Pediatric pulmonologist	12 (9.8)	7 (9.0)	5 (11.4)
Physical medicine and rehabilitation specialist	3 (2.5)	2 (2.6)	1 (2.3)
Social worker or clinical coordinator	5 (4.1)	4 (5.1)	1 (2.3)
N/A; self-coordinated transition	34 (27.9)	18 (23.1)	16 (36.4)
Other	4 (3.3)	2 (2.6)	2 (4.5)

^aInclusive of individuals that are preparing to transition to adult care, preparing to transition with adult consults initiated, partially transitioned, or fully transitioned to adult care

^bOnly includes those that have fully transitioned or are beginning their transition (does not include partial transition)

Respondents reported varying levels of pediatric provider involvement in coordinating the transition process. Overall, 72.1% reported that a healthcare professional (including physicians, specialists, social workers, or clinical coordinators) coordinated their transition, while 27.9% reported self-coordinating. Among EVG respondents, 76.9% reported provider-led coordination compared with 63.6% of FP respondents.

Across multiple elements of early transition planning activities, EVG respondents more frequently reported exposure to elements of structured transition preparation compared with FP respondents (Table 3). For example, 28.2% of EVG respondents reported that their pediatric provider assessed transition readiness compared with 6.8% of FP respondents. Overall, 43.4% of respondents reported discussions regarding decisions related to the transition to adult care and/or development of a transition plan, and these discussions were more commonly reported by EVG respondents (51.3%) than by FP respondents (17.8%). Receipt of a written transition plan was uncommon overall (15.1%) and was more frequently reported by EVG respondents (17.5%) compared with FP respondents (7.7%).

Table 3.

Exposure to structured, provider-led transition elements planning among respondents who initiated or completed the transition to adult care

Respondent exposure to elements of structured provider-led transition planning, n (%)	All respondentsa	Excellent/Very good/Good	Fair/Poor
	n = 122	n = 78	n = 44
Discussion of transition planning and/or development of a transition plan	53 (43.4)	40 (51.3)	13 (17.8)
Transition readiness assessment	27 (22.1)	22 (28.2)	5 (6.8)
Receipt of transition planb	8 (15.1)	7 (17.5)	1 (7.7)
Receipt of transition-related educational materials	22 (18.0)	19 (24.4)	3 (6.8)
Self-management guidance	34 (27.9)	26 (33.3)	8 (18.2)
Guidance on healthcare-related legal changes	29 (23.8)	23 (29.5)	6 (13.6)
Preliminary visits with adult healthcare providersc
Adult primary care provider	50 (47.6)	40 (60.6)	10 (25.6)
Adult neurologist	49 (46.7)	35 (53.0)	14 (35.9)
Adult pulmonologist	39 (37.1)	31 (47.0)	8 (20.5)
Adult PM&R specialist	16 (15.2)	15 (22.7)	1 (2.6)

^aInclusive of individuals that are preparing to transition to adult care, preparing to transition with adult consults initiated, partially transitioned, or fully transitioned to adult care

^bOnly respondents were those who answered “Yes” to “Did you and/or your parents discuss with your pediatric provider decisions about transition to adult care and/or development of a transition plan?”

^cOnly asked of those who have initiated consults, partially transitioned, or fully transitioned

Supportive elements of transition planning were reported infrequently overall and were consistently more common among EVG respondents than FP respondents. These included being offered educational materials related to the transition process (24.4% vs. 6.8%), receiving guidance on how to self-manage their care (33.3% vs. 18.2%), and having healthcare-related legal changes explained (29.5% vs. 13.6%).

Preliminary visits with adult healthcare providers were more commonly reported among EVG respondents across all provider types. For example, 53.0% of EVG respondents reported preliminary visits with an adult neurologist compared to 35.9% of FP respondents.

Across these elements, a subset of respondents indicated they did not recall whether a specific activity had occurred during their transition, with the highest rate of ‘don’t recall’ responses reported for receipt of a written transition plan (Supplemental Table 3).

Respondent Identified Opportunities to Improve the Transition Process

Respondents were asked to select provider-led strategies that could improve the transition process from a predefined list of options (Table 4). Across all respondents, the most frequently selected strategies included discussions about the differences between pediatric and adult care (91.8%), encouraging greater involvement of adolescents and families in the planning process (91.0%), and facilitating meetings with adult healthcare providers prior to transfer (90.2%). Selection patterns among EVG respondents were similar to those observed in the overall sample, with the same core strategies most frequently selected across both groups (Table 4). Among FP respondents, the most commonly selected strategies were encouraging greater involvement of adolescents and families in transition planning (95.5%), facilitating meetings with adult healthcare providers prior to transfer (95.5%), and providing access to comprehensive medical history summaries (95.5%).

Table 4.

Respondent-identified opportunities for providers to improve transition from pediatric to adult care

Recommendations for improving pediatric-to-adult care transitions, n (%)	All respondentsa	Excellent/Very good/Good	Fair/Poor
	n = 122	n = 78	n = 44
Encourage greater involvement of adolescents and families in the transition planning process	111 (91.0)	69 (88.5)	42 (95.5)
Initiate the transition planning process at an earlier age	78 (63.9)	47 (60.3)	31 (70.5)
Have discussions about the differences between pediatric and adult care	112 (91.8)	72 (92.3)	40 (90.9)
Initiate annual discussions about the transition process (e.g., best timing for the transfer from pediatric to adult care, disease self-management, healthcare specific goals)	106 (86.9)	65 (83.3)	41 (93.2)
Facilitate meetings with adult healthcare providers prior to the transfer to adult care	110 (90.2)	68 (87.2)	42 (95.5)
Provide educational materials that describe and support the transition process	102 (83.6)	62 (79.5)	40 (90.9)
Provide access to comprehensive overviews of my medical history	109 (89.3)	67 (85.9)	42 (95.5)

^aInclusive of individuals that are preparing to transition to adult care, preparing to transition with adult consults initiated, partially transitioned, or fully transitioned to adult care

Post-transfer Engagement with Adult Healthcare Providers

Among respondents who had partially or fully transitioned to adult care (n = 103), the weighted average rating of their relationships with adult healthcare providers was 3.56 overall (5-point Likert scale), with higher ratings among EVG respondents (3.91) compared with FP respondents (2.95) (Table 5). When stratified by whether they had completed a preliminary visit with an adult healthcare provider, average relationship ratings were similar (3.65 among those with preliminary consults vs. 3.33 among those without preliminary consults) (Data not shown).

Table 5.

Respondent-reported relationships with adult healthcare providers, engagement challenges, and opportunities to improve care experience

Measure	All respondentsa	Excellent/Very good/Good	Fair/Poor
	n = 103	n = 65	n = 38
Rating of current relationship with adult healthcare providers, WAb	3.56	3.91	2.95
Challenges when consulting with adult healthcare providers, n (%)
Major challenges reported	13 (12.6)	3 (4.6)	10 (26.3)
Minor challenges reported	38 (36.9)	21 (32.3)	17 (44.7)
No challenges reported	52 (50.5)	41 (63.1)	11 (28.9)
Challenges experienced when engaging with adult providersc, n (%)
Appointment scheduling difficulties	27 (52.9)	10 (41.7)	17 (63.0)
Ability to locate local adult providers	26 (51.0)	11 (45.8)	15 (55.6)
Navigating the adult healthcare system	23 (45.1)	8 (33.3)	15 (55.6)
Access to SMA-experienced clinicians	50 (98.0)	23 (95.8)	27 (100.0)
Involvement in care decisions	19 (37.3)	6 (25.0)	13 (48.1)
Access to mental health and well-being resources	17 (33.3)	7 (29.2)	10 (37.0)
Adult healthcare providers’ knowledge of SMA	47 (92.2)	21 (87.5)	26 (96.3)
Provider responsiveness to specific questions or concerns during visits	32 (62.7)	11 (45.8)	21 (77.8)
Time spent with adult providers	19 (37.3)	5 (20.8)	14 (51.9)
Communication between adult providers	28 (54.9)	10 (41.7)	18 (66.7)
Communication or cultural issues with adult providers	5 (9.8)	2 (8.3)	3 (11.1)
Insurance related issues	20 (39.2)	10 (41.7)	10 (37.0)
Opportunities to optimize patient experience with adult providers, n (%)
Provide additional time with healthcare providers	43 (41.7)	21 (32.3)	22 (57.9)
Facilitate communication between healthcare providers	76 (73.8)	43 (66.2)	33 (86.8)
Provide additional educational materials and resources for adult-related healthcare issues (e.g., insurance, legal, etc.)	67 (65.0)	38 (58.5)	29 (76.3)
Increase peer mentoring/network opportunities	59 (57.3)	36 (55.4)	23 (60.5)
Increase partnering with providers regarding healthcare decisions	67 (65.0)	37 (56.9)	30 (78.9)
Increase communication options for follow up care such as MyChart	81 (78.6)	49 (75.4)	32 (84.2)
Improve ease of scheduling options	80 (77.7)	51 (78.5)	29 (76.3)

^aTable only includes responses from those that had partially or fully transitioned to adult care

^bWA weighted average

^cRespondents were only asked this question if they indicated above that they had experienced minor or major challenges

FP respondents more frequently reported challenges when engaging with adult healthcare providers. A majority of EVG respondents reported no challenges (63.1%), compared with 28.9% of FP respondents. FP respondents also more frequently reported major challenges (26.3% vs. 4.6%) and minor challenges (44.7% vs. 32.3%) compared with EVG respondents. The most commonly reported challenge among all respondents was access to clinicians with experience in SMA (98.0%), which was also the most frequently reported challenge among both EVG (95.8%) and FP (100.0%) respondents. Compared with EVG respondents, FP respondents more frequently reported logistical challenges, including appointment scheduling (41.7% vs. 63.0%), ability to locate adult healthcare providers (45.8% vs. 55.6%), and navigating adult healthcare systems (33.3% vs. 55.6%). Insurance- and communication-related challenges were reported at similar rates across groups.

Respondents were asked to indicate opportunities to optimize their experiences with adult providers from a predefined list of options. FP respondents selected more optimization strategies overall. The most commonly selected strategy in this group was facilitating communication between healthcare providers (86.8%). Among EVG respondents, the most commonly selected optimization strategy was improving the ease of scheduling options (78.5%). Increased communication options for follow-up care and improved ease of scheduling were commonly selected by both groups, with similar proportions reported among EVG (75.4% and 78.5%, respectively) and FP respondents (84.2% and 76.3%, respectively).

Discussion

Advances in disease-modifying therapies and supportive care have contributed to improved survival for individuals living with SMA, resulting in a growing population of adolescents and young adults who must transition from pediatric to adult healthcare systems [4, 16]. This research provides insight into how individuals living with SMA experience the transition from pediatric to adult care and highlights the importance of coordinated provider-led preparation prior to transfer. The Six Core Elements framework and the American Academy of Pediatrics both emphasize early transition preparation, with guidance recommending initiation between 12–14 years of age [11, 12]. Within this cohort of adults aged 18–29 years, most respondents reported having initiated transition planning or completed transfer to adult care. However, 11% of respondents indicated they had not yet initiated the process, despite more than half of that group being 21 years or older at the time of survey completion. The most commonly reported anticipated age at transition was 21–24 years, suggesting that initiation of structured transition planning may occur later than recommended for a subset of young adults living with SMA.

Beyond timing, the findings reinforce the importance of provider-led coordination to improve the overall experiences of patients as they navigate the transition process. National data from the 2016 National Survey of Children’s Health indicate only 17% of adolescents with special healthcare needs received all recommended elements of transition preparation [18]. The present findings suggest that exposure to recommended transition preparation elements is also limited among the SMA population. Our analysis revealed most respondents reported some level of provider involvement in coordinating their transition, while an appreciable subset reported self-coordinating the process. A distinguishing feature between EVG and FP respondents, however, was not simply the presence of provider involvement but the extent of structured, provider-led preparation prior to transfer. Respondents reporting EVG transition experiences consistently reported greater exposure to transition preparation elements, including readiness assessment, development of a transition plan, educational materials, guidance on how to self-manage care, explanations about legal changes, and preliminary visits with adult providers, compared with respondents reporting FP experiences. These findings align with broader transition literature demonstrating that transition quality is shaped by the cumulative presence of preparation activities rather than by any single transition element alone [19, 20]. Consistent with this, the pattern observed among EVG respondents better reflects recommendations outlined in the Six Core Elements, which emphasize early planning, readiness assessments, and coordinated handoffs between pediatric and adult care teams [11].

Differences in transition preparation corresponded with meaningful differences in how adult care was experienced following transfer. FP respondents reported lower average ratings of their relationships with adult healthcare providers (weighted average Likert 2.95 vs. 3.91) and were substantially more likely to report major challenges when consulting with adult providers, whereas EVG respondents more commonly reported no challenges following transfer (Table 5). Among FP respondents, these challenges most often related to practical aspects of care navigation, including appointment scheduling, involvement in care decisions, communication between adult providers, provider responsiveness, and limited time during visits. Consistent with qualitative transition literature, these findings suggest that more limited transition preparation may be associated with greater difficulty navigating adult healthcare systems and increased reliance on self-coordination [20]. Respondent-selected opportunities to optimize their experience with adult providers further support this interpretation by emphasizing the need for system-level support such as improved communication between providers, expanded communication options for follow-up care, simplified scheduling, and access to educational resources related to adult healthcare systems, including information about insurance and legal considerations (Table 5). FP respondents selected these optimization strategies at higher rates than EVG respondents, consistent with greater reported support needs after transferring to adult care.

The implications of disjointed transitions to adult care may be particularly consequential in neuromuscular conditions such as SMA. Prior work emphasizes that SMA care management requires coordinated multidisciplinary oversight, typically led by a neurologist or neuromuscular specialist familiar with disease progression, to support ongoing monitoring, anticipatory care, and treatment access [2]. Given this complexity, structured transition processes may be especially important to sustain continuity of care as individuals living with SMA move into adult systems. In this context, insufficiently coordinated transitions may increase the risk of fragmented care and disrupt ongoing multidisciplinary management for this patient population.

Several existing frameworks and tools may help translate these findings into practice. Got Transition’s Six Core Elements provide customizable tools that support transition planning and quality improvement initiatives within clinical practice, including developing and sharing clinical transition policies with patients and families and establishing dedicated transition care teams [11, 12, 19]. Professional organizations such as the American College of Physicians Council on Subspecialty Societies have also adapted these materials to develop disease- and condition-specific transition tool sets for youth with special healthcare needs, suggesting a potential pathway for development of SMA-specific transition tools [21]. Existing billing infrastructure, including transition-related CPT codes supporting chronic care management, readiness assessment, and care coordination, may provide a practical mechanism for sustaining structured transition services within clinical practice [12, 22].

Importantly, difficulty accessing adult providers with experience in SMA was nearly universal in this cohort (98.0% overall; 95.8% EVG; 100.0% FP), reinforcing prior descriptions of fragmented adult neuromuscular care systems and limited disease-specific expertise [23]. This finding suggests that even when transition preparation is structured and provider-led, the availability of clinicians with expertise in SMA represents a broader structural constraint within adult healthcare systems. Preparation activities may enhance patient readiness and early engagement with adult care, but they cannot compensate for limited workforce capacity or gaps in disease-specific training. The relevance of this workforce gap extends beyond SMA. Similar challenges have been described across the rare disease community, where many adult providers lack experience managing complex pediatric-onset conditions and multidisciplinary care models remain limited [24]. As increasing numbers of adolescents with pediatric-onset rare conditions age into adulthood, healthcare systems and providers must be equipped with sufficient clinical expertise and capacity to receive these individuals.

A few limitations should be considered when interpreting these findings. First, the survey did not use a validated transition measurement tool, and responses reflect participant perceptions of transition-related processes rather than standardized assessments of transition quality. The cross-sectional and retrospective nature of the survey increases the possibility of recall bias, although limiting the sample to individuals aged 18–29 years was intended to reduce its potential effects. Respondents self-selected from an advocacy-associated database, potentially introducing engagement bias and limiting generalizability to less-connected populations who may have different experiences. The survey did not capture geographic location of care, proximity to specialized neuromuscular centers, or whether respondents transitioned within the same institution or to a new care setting, limiting the ability to assess how these structural factors may have influenced transition experiences. The self-reported data limit causal inference regarding the relationship between structured transition elements and patient-reported experiences. In addition, analyses were descriptive and did not include inferential statistical testing or multivariable adjustment; therefore, observed differences between EVG and FP groups should be interpreted as patterns within this sample rather than statistically quantified effects. Prior research has demonstrated that demographic and socioeconomic characteristics may also influence transition experiences [25, 26]. Although demographic and socioeconomic characteristics were broadly similar across respondents reporting EVG and FP experiences in this cohort, the absence of multivariable adjustment limits our ability to exclude residual confounding. Future research using larger samples and multivariable approaches is needed to better define the role of these factors within the SMA community.

Conclusions

As more individuals living with SMA enter adulthood, pediatric and adult healthcare systems share responsibility for ensuring that transition practices evolve to meet their complex and lifelong care needs. Findings from this patient-reported study suggest that meaningful improvements in transition experience may be achievable through provider-led strategies, including implementing early and repeated readiness assessments and creating opportunities for pre-transfer engagement with adult providers through preliminary consultations, even in the absence of fully implemented formal transition programs. Future research should evaluate how structured transition approaches can be adapted for the SMA community, integrated within neuromuscular clinics, and assessed for their effects on long-term clinical outcomes, quality of life, healthcare utilization, and sustained engagement in adult care. Incorporating provider perspectives will also be important to define feasible, scalable, and resource-conscious models of transition coordination.

The near-universal difficulty reported in accessing adult providers with SMA-specific expertise highlights broader system-level constraints within adult neuromuscular care. Addressing these gaps will require strengthening clinician education, expanding adult SMA expertise, and improving coordination between pediatric and adult care systems. Patient advocacy organizations may also play an important role by partnering with professional societies to strengthen training among adult neurologists and neuromuscular specialists in the management of rare, treatable pediatric-onset conditions. Taken together, these findings suggest that transition quality is shaped by both provider engagement and the cumulative presence of structured preparation elements, reinforcing the importance of extending the coordinated and supportive model of pediatric SMA care into adult healthcare systems so that transition represents an evolution of care delivery across the lifespan rather than a reduction in care support for individuals living with SMA.

Supplementary Information

Below is the link to the electronic supplementary material.

Author Contributions

Lauren Eisenman contributed to data curation, table and figure preparation, data analysis, writing-original draft, and editing. Angie Wise contributed writing-original draft, figure preparation, and writing-review and editing. Mary Curry led conceptualization, supervision, and methodology, and contributed to data curation, formal analysis, and writing-review and editing.

Funding

The authors acknowledge the Cure SMA Industry Collaboration (SMA-IC) for funding support to conduct this research study and pay the journal’s Rapid Service Fee. The SMA-IC was established in 2016 to leverage the experience, expertise, and resources of pharmaceutical and biotechnology companies, as well as other nonprofit organizations involved in the development of spinal muscular atrophy (SMA) therapeutics to more effectively address a range of scientific, clinical, and regulatory challenges. Funding for this research was provided by the 2021 and 2022 SMA-IC; members included Cure SMA, Biogen, Genentech/ Roche Pharmaceuticals, Novartis Gene Therapies, Scholar Rock Biohaven Pharmaceuticals, Epirium Bio, and SMA Europe.

Data Availability

The datasets generated and/or analyzed during the current study are available from the corresponding author on reasonable request.

Declarations

Conflict of Interest

Lauren Eisenman, Angie Wise, and Mary Curry declare that they have no competing interests.

Ethical Approval

Recruitment materials, consent language, and survey content were reviewed and approved by the WCG Clinical Solutions Institutional Review Board on July 11, 2021 (IRB tracking number: 20213257). The IRB determined that the study met the criteria for a waiver of documentation of consent under 21 CFR 56.109(c). By proceeding with the survey, participants provided implied consent to participate.