Participation rates and sample characteristics
The survey supplement elicited eighty-five (85) responses. Of the respondents, forty-four (44) were adolescent minors (ages 12–18, mean age 15), while forty-one (41) were young adults (ages 19–25, mean age 21). Fifty-three (53) individuals identified as female, thirty-one (31) as male, and one as non-binary. Six individuals identified as type I, fifty-eight (58) as type II, and twenty-one (21) as type III. The video contest received six submissions; four from adolescent minors and two from young adults. Five of the six individuals identified as type II; the remaining participant was a young adult with type III. Of note, participation of type I individuals in these types of initiatives is typically low. As previously described, traditionally, most of those affected with SMA type I do not survive past the age of two and those who do survive present with a very severe phenotype (requiring respiratory and feeding support and little to no movement) that would make participation in these studies very challenging. Additionally, the awareness video contest response rate is hypothesized to be much lower than the survey response rate due to the high demands of the contest design, including creating and editing a video submission, publicly posting to YouTube, and the subsequent contest campaigning. Sample demographics and clinical characteristics can be found on Tables I and II.
Table I: Clinical Meaningfulness Survey—Supplement Demographics
85 individuals responded to the clinical meaningfulness survey supplement. *Motor function abilities were divided into three categories: non-independent sitters (head control, maintain seated position supported), sitters/non-independent walkers (maintain seated position unsupported, crawl, cruise), and walkers (walk independently). All demographic information was self-identified. All percentages are based on the total surveyed population of 85 respondents.
Table II: Video Contest Demographics
6 individuals participated in the video contest. Demographic information was assessed from video submissions.
Participant responses and key themes
The first question posed in the survey supplement asked respondents to detail a difficult aspect of managing SMA with everyday life. The following two questions focused on how SMA affects schooling and socialization. The final question asked respondents for resource suggestions that may help to improve their quality of life, specifically for individuals within their age group. Overall results indicating the most common responses obtained in the category for each question are shown in Table III, which also shows overall response breakdown by maximum motor function at the time of survey completion. Video submissions were analyzed by percentage of time the individual spent on a given theme, with majority of participants focusing on social engagement and overcoming obstacles. The full breakdown can be found in Figure I, and further information on this breakdown can be found in Supplemental Table IX.
Table III: Survey Supplement Overall Responses
Survey supplement overall highest responses are categorized. All survey supplement questions were open-ended with no suggestions or context for responses given. Responses are broken down by motor function at time of survey completion above, and by age in results below. Percentages are reported by total respondents in first column, and by motor function level in the proceeding columns. For some questions, multiple answer categories tied for most frequent response by motor function.
Figure I: Video Contest Submission Breakdown by Topic
Video contest submissions were broken down into six major themes: social engagement, everyday life, physical health, emotional health, overcoming obstacles and other obstacles. Participants were given rough guidelines of submission topics but were encouraged to speak out about what is most important to them.
What is the most difficult aspect of balancing SMA symptoms with everyday life?
The first question of the survey supplement addresses the most difficult aspect of balancing SMA symptoms with the everyday lives of adolescents and young adults. The highest cited factor overall was dependence on others and the lack of independence. This finding is very much supported by previous qualitative research conducted among adults and caregivers or individuals with SMA (Qian et al., 2015; Renault et al., 2017; Cruz et al., 2018) One respondent wrote, “At this point I don’t know any different, but it’s the fact that you always have to rely on someone that starts to become overwhelming” (Respondent #63; SMA-II, age 22, female). Dependency was discussed by 20 participants, primarily comprised of type II individuals and sitters/non-walkers of all ages. This finding is statistically significant (p = 0.008) across motor function. Reliance on others was a significant theme discussed by half of the participants who submitted videos. One participant said, “I have to have a full-time para. It’s hard having a para because I’m like 15, I’m a teenager, and it’s not super fun having someone attached to my hip” (Participant 04, SMA-II, age 15, female).
Other highly cited factors included accessibility, fatigue, and social concerns. Regarding accessibility, one respondent wrote, “There is an awful lot of planning that has to go into getting around a huge campus like where I go to school. I worry all the time about stupid things like whether or not my chair lift in my car will work, whether it will snow outside by building and I will slip on the ice, what happens if I fall in the shower, will my smart drive be charged to get me through the day” (Respondent #86, SMA-III, age 20, female). Over half of survey respondents who discussed accessibility were type III individuals with a maximum motor function of walking independently at time of survey completion, and this finding is statistically significant by motor function (p = 0.005). Regarding fatigue, one respondent remarked, “Everything is difficult because depending on the day, my muscles get tired which makes me tired” (Respondent 30, SMA-II, age 12, female). Fatigue was mainly discussed by type II individuals with a maximum motor function of non-independent sitting, but no type I individuals. Regarding socialization, one respondent wrote, “It’s hard to always keep up with my friends” (Respondent 20, SMA-II, age 14, non-binary).
Other factors mentioned with less frequency included the burden of pain and physical symptoms, finding proper care and finding a healthy life balance. Two type I individuals cited pain as their most difficult aspect of balancing life, one writing, “Just dealing with the pain.” (Respondent 01, SMA-I, age 15, male). Finding one-on-one care was only cited by young adults, and this finding is statistically significant (p < 0.05) by age. Please refer to Figure II for more information regarding responses categorized by motor function at time of survey completion, and Supplemental Tables I and II for key words and responses broken down by correlations of age and motor function.
Video submissions elaborated on a variety of challenges faced by SMA adolescents and young adults. Such examples include fatigue, difficulty making friends, and feeling unable to participate in everyday life. Although participants did discuss obstacles, participants spent much more time detailing how they work to overcome said obstacles.
Figure II: Responses to Survey Supplement Question 1
Dependence and the lack of independence was the highest-cited difficult aspect, incurring 20 total respondents. When categorized by SMA type and motor function at time of survey completion, type II individuals considered “sitters” were the main respondents of this choice.
How does SMA affect schooling?
The second question of the survey supplement inquired about the impact of SMA and SMA symptoms on schooling. With no overarching factor, the largest response category was no effect with 13 responses. Some respondents simply indicated “it doesn’t”, while others elaborated on their situations. “SMA does not affect my schooling. I am currently enrolled in college and taking 14 units on campus” (Respondent 36, SMA-II, age 18, male). This answer was primarily indicated by type II individuals with maximum motor function below independent walker.
Conversely, the other most frequent responses indicated a much higher burden. These answers include accessibility, aid and assistance, homeschooling, and fatigue. Accessibility received 9 responses, mainly comprised of type III individuals with various levels of motor function. One respondent wrote, “I use an elevator and a rolling backpack, and the other students do not” (Respondent 72, SMA-III, age 12, male). Aid and assistance also received 9 responses, including two type I individuals and the remaining type II. One respondent wrote, “It forces me to require a 1 on 1 aide” (Respondent 05, SMA-I, age 18, male). 8 individuals discussed homeschooling, for reasons including germ exposure and placement struggles. This response was primarily indicated by adolescents and is statistically significant by age (p = 0.006). A respondent detailed, “I stopped going to public school, now I do it at home. They put me with all of the other special needs kids because I was in a wheelchair” (Respondent 64, SMA-II, age 14, female). Fatigue was also discussed by 8 individuals, this time primarily indicated by young adults. This finding is also statistically significant (p = 0.026) by age. One respondent stated, “Because of my lack of energy, I could not handle being a full-time student” (Respondent 74, SMA-III, age 23, female). For more information, please refer to Figure III regarding responses broken down by motor function at time of survey completion, and Supplemental Tables III and IV for key words and responses broken down by correlations of age and motor function.
All video contest submissions highlighted the impact of SMA on schooling. Schooling was discussed in over 10% of allotted time in all submissions. One participant said, “My academic experience was not a normal one. I needed an aid as well as many other accommodations, which resulted in a fair amount of arguments with people who just don’t understand” (Participant 06, SMA-II, age 18, female).
Figure III: Survey Supplement Responses to Question II
Although the most common response was ‘no effect’ with 13 total participants, responses were distributed evenly across a variety of factors including accessibility, aid, and fatigue. When categorized by SMA type and motor function at time of survey completion, type II individuals considered “sitters” were the main respondents of this choice, while non-sitters more commonly detailed accessibility, aid, and time/effort as challenges.
How does SMA affect socialization?
The third survey supplement question asked how SMA affects socialization. The highest responses were accessibility and no effect, each detailed by 16 respondents. Accessibility respondents once again primarily consisted of individuals with the maximum motor function of independent walker. One respondent remarked, “Since I use a wheelchair now, I have to think about accessibility. Are my friends’ homes accessible for me? Are the locations of social activities accessible? I definitely won’t have the same amount of independence as a sixteen-year-old who doesn’t have SMA” (Respondent 72, SMA-III, age 16, male).
Once again, a high rate of respondents indicated no effect, incurring responses from all SMA types and levels of motor function. One respondent stated, “It does not really affect my social life because my friends are cool” (Respondent 06, SMA-I, age 14, female). This sentiment was echoed in video submissions as well. One participant said, “I have a few really close friends, and they’re absolutely my best friends. I think that we’re closer than someone who wasn’t in a wheelchair because they walk through SMA with me” (Participant 05, SMA-II, age 15, female).
Conversely, some survey respondents felt the opposite, with little to no socialization. “What social life?” one respondent remarked (Respondent 03, SMA-I, age 15, male). Another respondent wrote, “SMA affects my social life very much. I never want to go out because everyone stares at me everywhere I go” (Respondent 19, SMA-II, age 12, female). This answer was discussed by 6 respondents of all SMA types, and also detailed in a few video submissions. One participant elaborated “All throughout elementary school, I was king of the campus. I had lots of friends and did not recognize I was different from any of the other kids. But in middle school, I realized that not being included was much harder than it seemed to be. It’s not that I was bullied, but that no one wanted me to be their friend” (Participant 01, SMA-II, age 17, male).
Other factors impacting socialization include activity limitations, communication difficulties, and feeling judged or misunderstood. Regarding activity limitations, one respondent wrote, “I am not able to do many activities. It affects my social life and my love life (by that I mean I don’t have one)” (SMA-III, Respondent 85, age 22, female). Regarding communication difficulties, one respondent wrote, “People have a hard time understanding me” (Respondent 11, SMA-II, age 20, male). Regarding feelings of judgement, one participant wrote, “Many adults and teens speak to me as though I’m much younger or will talk to the person I’m with acting as though I’m not really there” (Respondent 47, SMA-II, age 18, female). Dependence as a response in this section once again obtained statistical significance by motor function, with all respondents being independent sitters (p = 0.04). For more information, please refer to Figure IV regarding responses broken down by motor function at time of survey completion, and Supplemental Tables V and VI regarding key words and responses broken down by correlations of age and motor function.
All video submissions discussed social engagement in detail, with all participants spending a minimum of 20% of their submission time on the topic. Participants highlighted the importance of friendships, as well as the importance of family members, pets, paras and other key relationships. Although their social engagement levels and predicaments were vastly different, all participants noted the importance of social engagement when dealing with SMA both physically and emotionally.
Figure IV: Survey Supplement Responses to Question 3
‘No effect’ on socialization was most commonly cited by non-sitters, though it was followed closely by major effects including accessibility concerns and an absence of socialization.
What resources should exist for teens and young adults with SMA?
The final question of the survey supplement asked respondents what resources they would like to see created for this specific SMA population. Overwhelmingly, 33 responses, across all types and levels of motor function, suggested the creation of peer support groups. One respondent elaborated, “A group where we can just talk to each other about the issues we have, how we deal with them, joke with each other, and just connect over it” (Respondent 44, SMA-II, age 18, male). Another respondent remarked, “Support groups to help cope with the emotional and mental toll of SMA” (Respondent 53, SMA-II, age 22, female). Separate, but closely related, was the idea of a big/little buddy support program. One respondent wrote, “It would be useful to pair young adults with older individuals with SMA, like a buddy to learn from” (Respondent 13, SMA-II, age 23, female).
Another frequent suggestion was the creation of college and independent living transition materials. This response incurred 11 responses of all motor function levels. One respondent stated, “More info on going to college independently; as an adult I have met others with SMA who were surprised I went to college and lived independently” (Respondent 52, SMA-II, age 25, female). The importance of attending college was also highlighted in the video contest, with one participant in college and another excited to attend in the fall. The latter said, “I’m currently a senior in high school and I’m planning on living on the University of Arizona campus next year. Yes, without my parents. Yes, I know I’m disabled” (Participant 06, SMA-II, age 17, male).
Other ideas included improved access to equipment and technology, accessible transportation maps and activities, and accessible video games. Regarding improved access to equipment and technology, one respondent wrote, “Help with better access. Help to get a van for using power chair away from home and school. Grants for families” (Respondent 69, SMA-II, age 18, female). Regarding accessible activities, respondents suggested the creation of a wheelchair accessible waterpark, video game console and sport specifically modified to fit the needs of all SMA types. Lastly, a few respondents wrote that a cure would be an excellent resource. For more information, please refer to Figure V regarding responses broken down by motor function at time of survey completion, and Supplemental Tables VII and VIII for key words and responses broken down by correlations of age and motor function.
While the video submissions did not discuss specific resource recommendations, an inspiration for quite a few participants to create videos was to be a role model for struggling members of the Cure SMA and disabled adolescent communities. One participant said, “I hope to be an inspiration to all the kids out there that grew up like me, who are in wheelchairs and have self-doubt.” (Participant 02, SMA-II, age 20, female).
Figure V: Survey Supplement Responses to Question 4
The overwhelming majority response to Question 4 was peer-support groups. Question 4 exhibited the largest group consensus.
Correlations of Findings Between Age and Motor Function Status
In comparing our population as a whole to the SMA adult population captured in previous publications, our top responses coincide with their key findings. Accessibility was a high response in our study in relation to schooling (Question 2) and socialization (Question 3), as well as a statistically significant response with regards to motor function in context of Question 1 (p = 0.005). These findings correlate with accessibility and limited mobility being identified as the symptom with the greatest effect on SMA adults in the SMA Patient-Reported Impact of Symptoms (PRISM-SMA) study (n = 359) (Mongivoni et al., 2018). Fatigue was also identified as clinically meaningful, frequently highlighted in both in the PRISM-SMA study as well as our research in Questions 1–2. Furthermore, dependence was found to be a very difficult challenge in both our study and the existing literature. Dependence was the highest reported symptom for Question 1, as well as a statistically significant result with respect to motor function in Question 3 (p = 0.04). Achieving greater independence with treatment was considered to be extremely significant, and therefore, clinically meaningful to parents/caregivers as well as affected adults (McGraw et al., 2017; Qian et al., 2017). Similarly, results from a global polling with SMA parents/caregivers and affected adults at an externally led Patient-Focused Drug Development Meeting corroborated the finding that any treatment that increases independence is acutely meaningful (Cruz et al., 2018).
When breaking our population into cohorts of adolescents (ages 12–18) and young adults (ages 19–25), it is evident that certain themes are most relevant to certain age groups versus others (see Supplemental Tables II, IV, VI, and VIII). Statistically significant results were found in Questions 1, 2 and 4 with respect to differing priorities. Only young adults requested the creation of college and independent transition materials (p = 0.00) and young adults also more frequently reported fatigue issues in school (p = 0.026) and issues finding care (p = 0.05). Conversely, adolescents were more likely to report being homeschooled (p = 0.006). With these differences noted between age groups, majority of the key factors impacting the day to day lives of adolescents and young adults were largely shared by both groups.
Regarding motor function, accessibility and dependence results were found to be statistically significant (see Supplemental Tables II, IV, VI, and VIII). Accessibility concerns were mainly voiced by participants who previously walked or were able to walk at the time of survey completion (p = 0.005). While accessibility was a main issue for these individuals, the sentiment was not shared by non-sitters, who more frequently detailed pain or communication difficulties. Non-walkers were the most likely to voice challenges regarding dependence or reliance on others, and these results were significant with respect to Question 3 (p = 0.04) and Question 1 (p = 0.008). While motor function status was correlated with some responses, many responses had no correlation with motor function. At least one individual of every motor function group discussed difficulties regarding mental health, feeling left out, or needing more time and effort in school. Additionally, the no effect responses detailed in schooling and socialization all incurred varied responses from all levels of motor function.
Although age and motor function were not directly addressed in the video contest, five of the six video contest submissions were individuals using wheelchairs, while one was a young adult who was once an independent walker now often requiring support. She discussed facing her loss of ability at this stage in life, “It’s really hard to get up and down stairs, to bring my walker places, to need friends to wait or slow down. I never had to think about any of it before. It’s a challenge I overcome, but I did not think it would be so soon” (Participant 04, SMA-III, age 22, female).