The importance of conducting qualitative research in rare genetic syndromes: My experiences of the MYT1L-syndrome and SOX11-syndrome interview study

 

MYT1L-syndrome (or 2p25.3 deletion syndrome) and SOX11-syndrome (or 2p25.2 deletion syndrome) are both newly discovered syndromes that are associated with a variety of symptoms, including intellectual disability and microcephaly (Blanchet et al., 2017; Hempel et al., 2016). Despite this, we know little about the impact that these syndromes have on the individual and their caregivers. Therefore, the first piece of research we decided to undertake as part of my PhD was a qualitative research project exploring the lived experience of the parents and caregivers of individuals with MYT1L- and SOX11- syndromes. This includes asking about relationships with the health service and education and exploring other aspects of life including the impact that the syndromes have on work, finance, and amongst others, the impact on family and social networks.

 

Studies like this one will enable caregivers to voice their opinions on what is important to them and how the syndromes impact their lives on a daily basis. This will allow us to develop an understanding of which elements of the syndromes impact life the most and will hopefully lead to the development of interventions that make life easier to manage, thus increasing quality of life.

 

Qualitative research has previously been utilised to understand the lived experience of these populations in other rare genetic syndromes. Whilst this research does not explore MYT1L- and SOX11-syndromes specifically, a wide range of literature exists that has successfully undertaken qualitative research in rare genetic diseases, which includes Rett Syndrome, Duchenne Muscular Dystrophy and Huntington’s Disease (Bendixen & Houtrow, 2017; Palacios-Ceña et al., 2019; Pelentsov et al., 2016), and multiple themes have been explored and resulted in meaningful interventions or educational opportunities in a plethora of sectors

 

Although the MYT1L- and SOX11- interview study is still ongoing, the interviews so far have demonstrated to me why speaking directly with parents and caregivers is so important in extending our understanding of rare genetic syndromes. Caregivers provide a unique perspective and are able to share the experiences that are often detrimental including cognitive and behavioural problems, but also shine a light on the positives experienced, including the ability to spend quality family time together and participate, to a large extent, in the activities a neurotypical family would do.

 

One of my biggest learnings so far is that whilst those in academia are not yet, and may never be, experts in these syndromes, experts do already exist - the caregivers. As academics we should seek to include them in our research and learn from them and we should feel a huge sense of privilege whilst doing so. Other types of research are, without a doubt, fundamental to extending our knowledge and understanding of these syndromes. However, qualitative research provides a unique insight into a much richer and fuller insight into what life really looks like for individuals with rare genetic syndromes and their families and the findings highlights avenues for meaningful future research.

 

Parents or caregivers of an individual with MYT1L-syndrome (or 2p25.3 deletion syndrome) or SOX11-syndrome (or 2p25.2 deletion syndrome) can take part in this study remotely. Participating in this study would involve a 60-minute video call exploring various aspects of life, including the impact of the syndrome on education and healthcare. If you would like to find out more about the study or if you would like to sign up to take part, complete our contact form or email lsstokes1@sheffield.ac.uk.

 

Louis Stokes

PhD candidate (SiTRAN)

References

Bendixen, R.M. and Houtrow, A., 2017. Parental reflections on the diagnostic process for  Duchenne muscular dystrophy: a qualitative study. Journal of Pediatric Health Care, 31(3), pp.285-292.

 

Blanchet, P., Bebin, M., Bruet, S., Cooper, G.M., Thompson, M.L., Duban-Bedu, B., Gerard, B.,     Piton, A., Suckno, S., Deshpande, C. and Clowes, V., 2017. MYT1L mutations cause      intellectual disability and variable obesity by dysregulating gene expression and               development of the neuroendocrine hypothalamus. PLoS genetics, 13(8),              p.e1006957.

 

Hempel, A., Pagnamenta, A.T., Blyth, M., Mansour, S., McConnell, V., Kou, I., Ikegawa, S.,      Tsurusaki, Y., Matsumoto, N., Lo-Castro, A. and Plessis, G., 2016. Deletions and de      novo     mutations of SOX11 are associated with a neurodevelopmental disorder with             features of Coffin–Siris syndrome. Journal of medical genetics, 53(3), pp.152-162.

 

Palacios-Ceña, D., Famoso-Pérez, P., Salom-Moreno, J., Carrasco-Garrido, P., Pérez-Corrales,     J., Paras-Bravo, P. and Güeita-Rodriguez, J., 2019. “Living an Obstacle Course”: A Qualitative Study Examining the Experiences of Caregivers of Children with Rett               Syndrome. International journal of environmental research and public health, 16(1),  p.41.

 

Pelentsov, L.J., Fielder, A.L. and Esterman, A.J., 2016. The supportive care needs of parents with a child with a rare disease: a qualitative descriptive study. Journal of Pediatric              Nursing, 31(3), pp.e207-e218.