The role of experiential knowledge of Fragile X Syndrome in the provision of information about prena
Updated: Apr 3, 2019
National Health Service (NHS) policy requires that information that is provided about genetic conditions, for which prenatal diagnostic testing is available, is both accurate and balanced. I conducted this study because I was interested in knowing what information parents who are bringing up children who have Fragile X Syndrome would prioritise for prospective parents who are considering prenatal diagnostic testing. I also felt that healthcare staff who counsel families affected by Fragile X Syndrome could provide insights, based on their professional experience.
Overview of the study
Thirteen families took part in interviews about their individual experiences of bringing up a child with Fragile X syndrome and about family quality of life. The insights produced by these interviews were used to develop items of information about different characteristics of Fragile X Syndrome and its effects on children and their families. In the second and final stage of this study, 27 parents and seven health professionals took part in an exercise, known as Q sorting, to consider the importance of the selected items of information about characteristics of Fragile X Syndrome and perceptions of its impact on family life.
Summary of the Q sorting study
The 34 participants were each asked to prioritise 60 statements on a Q sorting matrix (an example of a matrix is shown in Figure 1.) with a scale that ranged between -5 (least important) to +5 (most important).
Q sort matrix
Each statement was assigned a score, according to where it had been placed on the matrix. Examples of the statements are shown, below.
Some children who have Fragile X Syndrome love to be tickled and hugged just like other children and generally they grow up to be affectionate.
When a child who has Fragile X Syndrome becomes anxious they can have tantrums that lead to them hitting out at other people.
As children who have Fragile X Syndrome grow up, the developmental gap between them and unaffected children becomes more apparent.
Because children who have Fragile X Syndrome can become agitated in public, some parents feel they have to take their child’s unaffected siblings out separately.
Most parents of children who have Fragile X Syndrome feel their family life is enjoyable.
Each completed matrix resulted in one complete Q sort. All 34 Q sorts were subjected to factor analysis, a statistical procedure that makes it possible to identify distinct viewpoints, from combined Q sorts. Factor analysis resulted in three factors, which each represented a distinct viewpoint on life with Fragile X Syndrome. The factor analysis applied all 34 Q sorts to each factor. The scores that were given to each statement caused certain Q sorts to be significant on a factor, which meant that they defined the overall factor viewpoint. These Q sorts are referred to as exemplars Q sorts.
Findings of the Q sorting study
From the factor analysis, three separate viewpoints of life with a child who has Fragile X Syndrome were identified. These viewpoints and the exemplars are summarised, next:
The affected child was capable of developing skills and abilities. Parental responsibility was not considered burdensome and Fragile X Syndrome was not perceived as having a negative impact on family life. Nor was it presented as a condition that should be avoided through prenatal diagnostic testing. Family quality of life was perceived as being good and little different from the quality of life enjoyed by other families. Any problems that were encountered were largely attributed to society’s attitudes and poor understanding of the condition. The Q sorts of half of the group of participants (15 females and 2 males) were exemplars that defined this viewpoint. Ten of the Q sorts that were exemplars were completed by participants who were recruited through the Fragile X Society. A further four exemplar Q sorts were completed by participants who were recruited through the NHS, of which two were completed by health professionals: a male NHS consultant in neuro-developmental conditions, who is experienced in discussing the diagnosis of Fragile X Syndrome with affected families; and a female trainee genetic counsellor . A further two participants, both mothers of young adults who have Fragile X Syndrome, entered the study as a result of being introduced by one other participant. Both of these participants produced exemplar Q sorts. The 17th and last defining Q sort on factor 1 was provided by myself. My background is in psychology and I have some experience of working with young adults who have Fragile X Syndrome, in the supported housing setting. It is considered good practice for the researcher in a Q Methodology study to complete a Q sort, as it places her or him in a position to be reflexive and allows the reader to assess the researcher’s interpretations because they know the researcher’s position on the subject.
Children with Fragile X Syndrome and their families were considered to be different from other families. The focus was on the challenging behaviours sometimes presented by children with Fragile X Syndrome and also on perceptions of them as being different from typically developing children. The parenting role was perceived as burdensome and family quality of life was considered poor. Fragile X Syndrome was presented as a condition that most people would wish to actively avoid. The Q sorts of three participants were exemplars that defined this viewpoint. Two of these participants were mothers who entered the study through the Fragile X Society. The third exemplar Q sort was completed by a male NHS research professor.
Children with Fragile X Syndrome present challenging behaviours, which exert significant impact on family quality of life. However, more important is the stress arising from what participants perceived as the struggle to gain access to social care resources for their affected children and their family. Information about the availability of prenatal testing was viewed as relatively unimportant when considered alongside information about these other aspects of life with the condition. This viewpoint was defined by the exemplar Q sorts of six participants. This group of participants was made up of five mothers and one father.
Despite the diversity of views, there was clear consensus about loving and supporting children affected by Fragile X Syndrome and their right to a good quality of life and access to social care resources. However, there was difference in the viewpoints about choices with regard to the unborn child, with some participants considering both items of information on acceptance or rejection of prenatal diagnostic testing to be of equal value. When assigning scores to the following statements:
Some parents of children who have Fragile X say they would have preferred to have had the choice of prenatal testing for fragile X and the option of terminating an affected pregnancy.
Some parents of children who have Fragile X say they would not have wanted the choice of prenatal testing for fragile X because they would not have wanted the option of terminating an affected pregnancy.
Some participants assigned scores which indicated they considered both items to be generally unimportant. However, other participants considered both of these items of information to be of generally high importance. It was noted that the participants who considered these items of information to be generally unimportant were those who shared the first viewpoint and the third viewpoint. Both of these viewpoints seemed to be associated with experiences that the challenges of Fragile X Syndrome could be managed with adequate support and resources. Therefore, information about testing choices was not of importance. Those participants who considered these items of information to be of generally high importance were those who shared the second viewpoint. This view seemed to be associated with participants’ perception that Fragile X Syndrome caused children to be so different from typically developing children that it should be prioritised that some parents would have preferred to have had the choice of prenatal testing.
While valuable in their own right, it was felt that these different viewpoints could be further discussed by analyzing some of the interviews that were conducted with families before the Q-study. These interviews provided detailed insights to the families’ experiences of Fragile X Syndrome. These insights were used as the basis of the statements that the participants in the Q study were asked to consider.
The role of the interviews
This data was so rich that a sample of those interviews was qualitatively analysed to further explore the viewpoints that resulted from the Q study. The analyses of those interviews are summarised next. The interviews presented three different accounts of life with Fragile X Syndrome.
The first indicated that the view that should be prioritised for prospective parents was that family life with a child with Fragile X Syndrome could be relatively normal if parents could retain a positive outlook. This account emphasised personality traits, such as hopefulness and optimism, as being key to accepting Fragile X Syndrome as just one aspect of family life. Also, this account emphasised seeking out appropriate therapies that could help to alleviate their child’s difficulties, which in turn could further improve the family’s quality of life.
The second view presented Fragile X Syndrome as a tragedy in the family, posing many challenges and leading to loss of future opportunities for the affected child and for their parents, particularly their mothers. Main references were made to losses in terms of job and career prospects, and to losses of opportunities for socialising with other families and for friendships. The challenges perceived as being presented by Fragile X were not considered insurmountable, but were considered to have an adverse impact on family life.
The third view of life with Fragile X considered that any challenges faced by affected families arose mainly from a perceived lack of social support and a lack of services. Parents particularly considered respite care necessary to help families in bringing up their affected children and to maintain family quality of life, particularly for their children’s unaffected siblings.
Parents’ response to questions about the availability of prenatal diagnostic testing was predominantly that this would have been accepted, had it been offered. However, one person indicated they had refused prenatal diagnostic testing. Other parents expressed relief that they had not been aware of Fragile X Syndrome and had not had to face difficult choices about whether or not to accept prenatal diagnosis.
Experience of Fragile X Syndrome appeared to be more closely related to the prioritisation of information that some parents would not welcome the availability of prenatal diagnostic testing, with the option of selective termination. This appeared consistent with the general viewpoint that although Fragile X Syndrome presented challenges, it was not necessarily the case that the people would seek to avoid the birth of a child with this condition.
The families who took part in the Q study discussed a range of topics and responded to statements in ways that indicated that Fragile X Syndrome affected their children in different ways. The variation in responses means that there are differences in perceptions of the impact of Fragile X Syndrome on family quality of life. The issues surrounding the offer of prenatal diagnostic testing for Fragile X Syndrome are complex. Therefore, the information that is offered to prospective parents, who will then have to make a choice, needs to reflect a range of different perspectives.
I wish to thank all the families and health professionals who took part in this research. I was welcomed into their homes and workplaces, as they took time out of their busy days to engage in this study. I am very grateful for their willingness to share their experiences and perspectives.
I would also like to thank the Fragile X Society, particularly Mrs Lynne Zwink and Mrs Sally Hicks; and the Yorkshire Regional Genetics Service of the Leeds Teaching Hospitals NHS Trust, for their assistance in recruiting participants.
This study was the subject of my PhD, which was funded by the Medical Research Council and undertaken in the School of Medicine and the Leeds Institute of Health Sciences at the University of Leeds. My academic supervisors were Professor Jenny Hewison and Dr Louise Bryant, of the University of Leeds and my clinical supervisors were Consultant Geneticist Ms Carol Chu and Consultant in Feto Maternal Medicine Mr Gerald Mason, both of the Leeds Teaching Hospitals NHS Trust.