Quality of Life Survey
Participation rates and sample characteristics
The QoL survey elicited eighty-five (85) responses, representing a 21.3% response rate, with a 95% confidence level and a 9.4% margin of error. 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. The most prevalent maximum motor function level at both time of diagnosis and at time of survey completion was sitter/non-independent walker. As respondents were recruited from the survey through the Cure SMA database, demographic information could be verified. Sample demographics and clinical characteristics can be found on Table I.
What is the most difficult aspect of balancing SMA symptoms with everyday life?
The first free text question of the QoL survey addressed the most difficult aspect of balancing SMA symptoms with the everyday lives of adolescents and young adults (Table 2, Supplemental Table 1). The highest cited factor overall was dependence on others and the lack of independence. 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; sitter, age 22, female). The respondents who indicated dependency were most likely to be sitter/non-walker (p= 0.008).
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, walker, age 20, female). There was a statistically significant difference in discussing accessibility by motor function (p=0.005), as the majority of individuals reporting accessibility had a maximum motor function of independent walker. Fatigue was most frequently mentioned by individuals with a maximum motor function status of sitter/non-independent walker than an independent walker. One respondent remarked, “Everything is difficult because depending on the day, my muscles get tired which makes me tired” (Respondent 30, non-independent sitter, age 12, female). Regarding socialization, one respondent wrote, “It’s hard to always keep up with my friends” (Respondent 20, sitter, 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. Multiple non-independent sitting individuals cited pain as their most difficult aspect of balancing life, one writing, “Just dealing with the pain.” (Respondent 01, non-independent sitter, age 15, male). There was a statistically significant difference between adolescents and young adults citing finding one-on-one care to be the most difficult aspect of balancing life, with only young adults citing this factor (p<0.05). Responses are categorized by age and motor function at the time of survey completion in Table II and the themes by type in Supplemental Table I.
How does SMA affect schooling?
The second question of the QoL free text inquired about the impact of SMA and SMA symptoms on schooling (Table 3, Supplemental Table 2). 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, sitter, age 18, male). This response was primarily indicated by individuals with a maximum motor function of non-independent sitter or sitter/non-independent walker.
Conversely, the other most frequent responses indicated much higher burden. These answers include accessibility, aid and assistance, homeschooling, and fatigue. Accessibility received 9 responses, mainly comprised of individuals with various levels of motor function, but who identified as Type III. One respondent wrote, “I use an elevator and a rolling backpack, and the other students do not” (Respondent 72, walker, age 12, male). Aid and assistance also received 9 responses. One respondent wrote, “It forces me to require a 1 on 1 aide” (Respondent 05, non-independent sitter, 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 groups (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, sitter, 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 groups. 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). Although these individuals have faced academic challenges, many of them report being highly successful. Of the young adult survey respondents, 16 are currently enrolled in college, with an additional 12 individuals having graduated college and 3 individuals holding a graduate degree. Responses are categorized by age and motor function at the time of survey completion in Table III and the themes by type in Supplemental Table II.
How does SMA affect socialization?
The third free-text question asked how SMA affects socialization (Table IV, Supplemental Table III). 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, sitter, age 16, male).
A high rate of respondents indicated no effect, incurring responses from all levels of motor function. One respondent stated, “It does not really affect my social life because my friends are cool” (Respondent 06, non-sitter, age 14, female). Conversely, some survey respondents felt the opposite, with little to no socialization. “What social life?” one respondent remarked (Respondent 03, non-sitter, 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, non-sitter, age 12, female). This answer was discussed by 6 respondents of all motor function levels
Other factors impacting socialization include activity limitations, communication difficulties, and feeling judged or misunderstood. While describing 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)” (Respondent 85, walker, age 22, female). Additionally, one respondent noted communication difficulties, stating, “People have a hard time understanding me” (Respondent 11, non-sitter, 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, sitter, age 18, female). Dependence as a response in this section once again obtained statistical significance by motor function categories, with all respondents being sitter/non-independent walker (p=0.04) rather than independent walker. Responses are categorized by age and motor function at the time of survey completion in Table IV and the themes by type in Supplemental Table III, respectively.
What resources should exist for teens and young adults with SMA?
The final question of the QoL free text asked respondents what resources they would like to see created for this specific SMA population (Table V, Supplemental Table IV). Most often mentioned, 33 responses, across all ages 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, sitter, age 18, male). Another respondent remarked, “Support groups to help cope with the emotional and mental toll of SMA” (Respondent 53, sitter, 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, non-sitter, 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, sitter, age 25, female). 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, sitter, 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 severities. Lastly, a few respondents wrote that a cure would be an excellent resource. Responses are categorized by age and motor function at the time of survey completion in Table V and the themes by type in Supplemental Table IV.