See the published version of this article at Orphanet Journal of Rare Diseases.
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Research
Allison Joy Mazzella
Cure SMA
Corresponding Author
ORCiD: https://orcid.org/0000-0002-0346-8659
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published article at Orphanet Journal of Rare Diseases.
Background: With the approval of three treatments for spinal muscular atrophy (SMA) and several promising therapies on the horizon, the SMA adolescent and young adult populations are expected to evolve in the coming years. It is imperative to understand this cohort as it exists today to provide optimal care and resources, as well as to assess possible treatment effects over time. In 2018, Cure SMA launched two initiatives geared towards understanding adolescents and young adults with SMA, ages 12-25. First, Cure SMA launched a Quality of Life (QoL) survey to capture quantitative and qualitative information on this specific age demographic. Concurrently, Cure SMA invited SMA-affected individuals, ages 12-25, to create a three-minute video on their everyday experiences living with SMA. An inductive thematic analysis of the free-text survey questions along with the video contest findings are reported here.
Results: Eighty-five individuals — 6 type Is, 58 type IIs, and 21 type IIIs — completed the Quality of Life free-response, while six individuals participated in the SMA awareness video contest. In both settings, individuals detailed a variety of challenges, including but not limited to forming or maintaining close relationships, experiencing feelings of isolation, challenges with accessibility, independence, and dealing with the stigma of being perceived as mentally disabled. Individuals also discussed their successes, including but not limited to higher education enrollment and attendance, development of quality friendships, and perseverance through obstacles. Additionally, notably in the survey, 39% of respondents requested the creation of an SMA peer support group in efforts to connect with each other as well as collectively navigate the aforementioned challenges they face.
Conclusion: Together, these findings provide a rare glimpse into the unique mindsets, challenges and motivations of SMA adolescents and young adults, via patient-reported measures instead of caregiver proxy. The adolescent and young adult age demographics assessed represent a critical transition period in life and in SMA care. No one understands the needs of an adolescent or young adult with SMA better than the individuals themselves, and it is critical to encapsulate their insights to affect change.
Keywords
Spinal Muscular Atrophy, Quality of Life in SMA Adolescents and Young Adults, Qualitative Research, Emotional Health, Disability, Peer-Support Group, Accessibility, Fatigue, Dependence.
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CURRENT STATUS: Published
Published
On 22 Feb, 2021
No community comments so far
Editorial decision: Accept
On 16 Jan, 2021
Editor assigned
On 12 Jan, 2021
Submission checks complete
On 12 Jan, 2021
Editor invited
On 12 Jan, 2021
Version 3
Posted 16 Dec, 2020
No comments provided
Editorial decision: Minor revision
On 11 Dec, 2020
Review #1 received
Received 10 Dec, 2020
Review #2 received
Received 08 Dec, 2020
Reviewer #2 agreed
On 01 Dec, 2020
Editor assigned
On 30 Nov, 2020
Reviewers invited
Invitations sent on 30 Nov, 2020
Reviewer #1 agreed
On 30 Nov, 2020
Submission checks complete
On 30 Nov, 2020
Editor invited
On 30 Nov, 2020
No comments provided
Editorial decision: Major revision
On 03 Nov, 2020
Review #2 received
Received 02 Nov, 2020
Review #1 received
Received 29 Oct, 2020
Reviewer #2 agreed
On 18 Oct, 2020
Reviewers invited
Invitations sent on 15 Oct, 2020
Reviewer #1 agreed
On 15 Oct, 2020
Editor assigned
On 14 Oct, 2020
Submission checks complete
On 13 Oct, 2020
Editor invited
On 13 Oct, 2020
No comments provided
Editorial decision: Major revision
On 12 Sep, 2020
Review #2 received
Received 11 Sep, 2020
Reviewer #2 agreed
On 26 Aug, 2020
Review #1 received
Received 25 Aug, 2020
Reviewers invited
Invitations sent on 10 Aug, 2020
Reviewer #1 agreed
On 10 Aug, 2020
Editor assigned
On 28 Jul, 2020
First submitted
On 27 Jul, 2020
Submission checks complete
On 27 Jul, 2020
Editor invited
On 27 Jul, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
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This preprint is under consideration at Orphanet Journal of Rare Diseases. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research
Allison Joy Mazzella
Cure SMA
Corresponding Author
ORCiD: https://orcid.org/0000-0002-0346-8659
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Published
Published
On 22 Feb, 2021
No community comments so far
Editorial decision: Accept
On 16 Jan, 2021
Editor assigned
On 12 Jan, 2021
Submission checks complete
On 12 Jan, 2021
Editor invited
On 12 Jan, 2021
Version 3
Posted 16 Dec, 2020
No comments provided
Editorial decision: Minor revision
On 11 Dec, 2020
Review #1 received
Received 10 Dec, 2020
Review #2 received
Received 08 Dec, 2020
Reviewer #2 agreed
On 01 Dec, 2020
Editor assigned
On 30 Nov, 2020
Reviewers invited
Invitations sent on 30 Nov, 2020
Reviewer #1 agreed
On 30 Nov, 2020
Submission checks complete
On 30 Nov, 2020
Editor invited
On 30 Nov, 2020
No comments provided
Editorial decision: Major revision
On 03 Nov, 2020
Review #2 received
Received 02 Nov, 2020
Review #1 received
Received 29 Oct, 2020
Reviewer #2 agreed
On 18 Oct, 2020
Reviewers invited
Invitations sent on 15 Oct, 2020
Reviewer #1 agreed
On 15 Oct, 2020
Editor assigned
On 14 Oct, 2020
Submission checks complete
On 13 Oct, 2020
Editor invited
On 13 Oct, 2020
No comments provided
Editorial decision: Major revision
On 12 Sep, 2020
Review #2 received
Received 11 Sep, 2020
Reviewer #2 agreed
On 26 Aug, 2020
Review #1 received
Received 25 Aug, 2020
Reviewers invited
Invitations sent on 10 Aug, 2020
Reviewer #1 agreed
On 10 Aug, 2020
Editor assigned
On 28 Jul, 2020
First submitted
On 27 Jul, 2020
Submission checks complete
On 27 Jul, 2020
Editor invited
On 27 Jul, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published article at Orphanet Journal of Rare Diseases.
Background: With the approval of three treatments for spinal muscular atrophy (SMA) and several promising therapies on the horizon, the SMA adolescent and young adult populations are expected to evolve in the coming years. It is imperative to understand this cohort as it exists today to provide optimal care and resources, as well as to assess possible treatment effects over time. In 2018, Cure SMA launched two initiatives geared towards understanding adolescents and young adults with SMA, ages 12-25. First, Cure SMA launched a Quality of Life (QoL) survey to capture quantitative and qualitative information on this specific age demographic. Concurrently, Cure SMA invited SMA-affected individuals, ages 12-25, to create a three-minute video on their everyday experiences living with SMA. An inductive thematic analysis of the free-text survey questions along with the video contest findings are reported here.
Results: Eighty-five individuals — 6 type Is, 58 type IIs, and 21 type IIIs — completed the Quality of Life free-response, while six individuals participated in the SMA awareness video contest. In both settings, individuals detailed a variety of challenges, including but not limited to forming or maintaining close relationships, experiencing feelings of isolation, challenges with accessibility, independence, and dealing with the stigma of being perceived as mentally disabled. Individuals also discussed their successes, including but not limited to higher education enrollment and attendance, development of quality friendships, and perseverance through obstacles. Additionally, notably in the survey, 39% of respondents requested the creation of an SMA peer support group in efforts to connect with each other as well as collectively navigate the aforementioned challenges they face.
Conclusion: Together, these findings provide a rare glimpse into the unique mindsets, challenges and motivations of SMA adolescents and young adults, via patient-reported measures instead of caregiver proxy. The adolescent and young adult age demographics assessed represent a critical transition period in life and in SMA care. No one understands the needs of an adolescent or young adult with SMA better than the individuals themselves, and it is critical to encapsulate their insights to affect change.
Figure 1
Figure 2
Figure 3
Figure 4
Figure 5
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