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Study partners
The Centre for Community-Driven Research

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Study demographics
Fifty participants from Australia were recruited into the study.
Participants included parents of children living with SMA 1, 2 and 3 (n= 21; 42.0%), parents of children who had died from SMA 1 (n= 9; 18.0%), and 20 participants that had been diagnosed with SMA 2, 3 and 4 (n= 20; 40.0%).
While there were 50 participants in the study, this represented 52 individuals with SMA as two participants had two children with SMA. The diagnosis of SMA type for the adult participants or the children were SMA 1 (n=13; 25.0%), SMA 2 (n=25; 48.1%), SMA 3 (n = 10; 19.2%) and SMA 4 (n=4, 7.7%).
Largest QOL mixed methodology study in Australia and the world.
Participants came from all states across Australia in metropolitan (70.0%), inner regional (20.0%), outer regional (8.0%) and very remote (2.0%) areas.
30 female and 22 male individuals diagnosed with SMA were represented in this study. Two parents had two children with SMA taking the total to 52 individuals represented.
In relation to baseline health, there were no significant differences found in any of the subscales between the parents of children diagnosed with SMA 1 with parents of children diagnosed with SMA 2 or 3.
There was a significant difference between the median score of participants diagnosed with SMA 2 and participants diagnosed with SMA 3 or 4 for Role Functioning/Emotional where it was observed that patients diagnosed with SMA 2 have a more difficult experience coping with emotional health.
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Most common symptoms
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Pathway to diagnosis
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Days to diagnosis
SMA type
Days to diagnosis
Days to diagnosis (pre 2008)
SMA 1
48.5
46.0
SMA 2
146.8
607.3
SMA 3,4
824.0
1373.6
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Diagnostic tests
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Clarity of prognosis
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Treatment discussions
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Experience of clinical trials
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Experience of treatment
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Health professional communication
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Health professional communication & respect
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Experience of decision-making
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Who participants talk to & trust
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Information accessed
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Information not helpful
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Information helpful
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Information preferences
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Information timing
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Experience of care and support
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Experience of care coordination
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Experience of quality of life
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Impact on relationships
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Fear of progression
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Expectations of treatment (interview)
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Aspects considered important when thinking about treatment (online ranking)
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Treatment benefit and quality of life
(how many months of good quality of life is needed for a treatment to be beneficial)
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Expectations cross-cutting themes
62.0% of all participants, including 58.3% of SMA 1 participants, 62.5% of SMA 2 participants and 64.3% of SMA 3 participants, called for access to new treatments (specifically nusinersen/Spinraza).
20.0% of all participants, seven of which were parents of children with SMA 1 (62.5% of SMA 1 participants) called for access to newborn screening.
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Expectations of care and support
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Expectations of information
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Messages to decision-makers
An urgent need for nusinersen (Spinraza) to be available to improve the quality of life of infants, children and adults affected by SMA
Talk to people affected by SMA to really understand the condition and what is needed (consider the people not the condition - remember we are not just a number)
People with SMA can live productive lives, but this can only happen with adequate support.
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Messages to decision-makers
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Advice to patients and families
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Discussion & conclusion
Potentially a difference in language used by clinicians vs patents. Bridging this gap in language used may help avoid situations being dismissed or not taken seriously.
There has previously been little focus on the pathway to diagnosis or time to diagnosis. With the variation in time to diagnosis between SMA types observed in this PEEK study, this information presents the sector with an opportunity to reduce this variation in diagnosis and provides a baseline on which to measure improvements.
There has been a complex history in diagnosing SMA however with the ability to diagnose the condition through genetic testing and avoid muscle biopsies, it is reasonable to expect that the experience of patients in the future will be improved and potentially decrease the time from symptom presentation to diagnosis, and reducing the stress and anxiety associated with this process.
The timing in which individuals are receptive to information varied between SMA types, and this is an important consideration when developing strategies to minimise emotional impact. Multiple approaches will be necessary to minimise the emotional impact as much as possible on families throughout diagnosis, with consideration of the time that individuals are most receptive to receiving information. This is particularly important as the majority of people faced with a diagnosis will not have heard of the condition before, as identified in this PEEK study.
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Discussion & conclusion
In this PEEK study, half of the SMA 1 participants described receiving coordinated care, however, this was the only group that described this. Likewise, the SMA 1 group consistently scored better in measures of health system navigation and coordination of care, compared with other SMA types. This identified a gap in coordination of care between SMA types, and due to the nature of SMA, this lack of coordination may result in patients not receiving information about treatment and services available to them.
Parents of infants with SMA 1 were observed in this PEEK study to have received better coordination of care, information and communication compared to other SMA types. As a result, they demonstrated a greater understanding of the treatment environment and had greater satisfaction with communication and care, and were more able to navigate the health system. However in the absence of treatment being available and regardless of the excellent care and coordination received by parents of infants with SMA 1, half of this group reported that their infant with SMA had no quality of life.
A second common theme within this PEEK study was the need to access newborn screening and genetic testing, however a need for community education and awareness was also identified. In a study by Forrest et al. even in at-risk families, the majority of family members were not likely to have genetic testing, however family communication was an important factor in the decision to undergo testing, highlighting the importance of supporting families in communicating the need to undergo genetic testing.
Overall, the SMA community experiences a relatively high level of anxiety in relation to disease progression, which was also evidenced by their call for new treatments to slow disease. The relationship between anxiety and quality of life has been discussed in a number of studies, across ages and disease areas and it follows therefore that any interventions that can ameliorate this anxiety are likely to improve the overall quality of life for the SMA community.
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Next steps
At the end of each PEEK study, CCDR identifies three key areas that, if improved, would significantly increase the quality of life and/or the ability for individuals to better manage their own health.
In relation to the SMA community, these three areas are:
Being able to access treatments that slow disease progression
Interventions that reduce time to diagnosis
Centralised support for SMA 2, 3 and 4 patients and their families to support independent living, including information that is current, country-specific, SMA type-specific and provides practical advice on living with SMA
The Centre for Community-Driven Research