Strengths and Weaknesses of the Imagining Futures Project
A major strength of this study is that it is the first systematic analysis of the views of people affected by SMA in the UK in relation to the possibility of a national screening programme for SMA. Previous studies of attitudes towards SMA screening have all been very small (Wood et al., 2013), have not included the views of affected adults (Lawton et al., 2014), and have all been conducted outside of the UK. By accessing participants through various channels: SMA Support UK, the SMA Patient Registry as well as social networking sites and informal networks, this study was able to include a range of people with different experiences of, and relationships to, SMA. The survey was completely anonymous which might have facilitated honesty in reporting of attitudes. The survey was also developed directly from interviews with families living with SMA, meaning that their priorities and concerns were directly addressed within it.
In order to protect the anonymity of participants, no identifiable data on participants was gathered by the survey. This meant that it was not possible to prevent a participant from completing the survey multiple times. One of the social networking sites approached to distribute the survey declined to do so, and this might have introduced bias to the results if the members of that social network share particular characteristics. Due to budget restrictions, thetranslation of the survey into multiple languages was not possible, therefore individuals unable to speak English were excluded from this study. Nothing can be known about those individuals who did not return their postal survey. Due to the very poor prognoses associated with SMA Types 0 and I, the adults with SMA who participated in the survey were largely affected with clinically milder forms of the disease (although two participating adults reported that they had a diagnosisof SMA Type I). This will have impacted on how the adults with SMA who participated in this study experienced SMA and may, at least in part, explain the differences in perceptions of quality of life associated with SMA between adults with SMA and parents of babies who died of SMA Types 0 or I. The comparison to women from the general population was limited by the available data.
Comparison with Other Studies
Whilst support for screening amongst SMA families may be described as high (75%), when compared to similar studies, support for screening appears somewhat lower amongst SMA families and adults in the UK. Indeed the combined support for newborn screening amongst parents of children affected by Muscular Dystrophy/SMA in a study conducted in the U.S. was found to be 95.9% by Wood et al. (2013).
Table 6: Support for Genetic Screening: SMA Families Compared with Cystic Fibrosis Families (Maxwell et al., 2011)
The support was also lower when this study was compared to studies of conditions with very different presentations. Maxwell et al. (2011) for example, studied attitudes to pre-conception and prenatal screening for Cystic Fibrosis amongst affected families and adults in Australia, using a survey that was administered through the main support and advocacy group for families living with Cystic Fibrosis. Like responders to the SMA Screening Survey (UK), participants in Maxwell et al.’s (2011) study were asked to agree/disagree with the statement ‘I would support a prenatal/pre-conception screening programme for Cystic Fibrosis’. A comparison of Maxwell et al.’s findings with the findings of the Imagining Futures study are shown in Table 6. The generally lower levels of support amongst both family members and people with SMA towards the different screening programmes for SMA may be in part due to the high degree of variability of outlook associated with the different Types of SMA. Whilst Cystic Fibrosis may also be described as having a variable prognosis, SMA is characterised by its wide spectrum of severities, which could make screening more controversial amongst those living with it. Further research is needed to describe and explain the differences of attitudes towards screening amongst families and adults living with a range of different conditions, including those conditions which produce cognitive as well as physical symptoms.