Jane Goodwin

A tale worth telling: The impact of the diagnosis experience on disclosure of genetic disorders

BACKGROUND Research suggests children with genetic disorders exhibit greater coping skills when they are aware of their condition and its heritability. While the experiences parents have at diagnosis may influence their decision to disclose the diagnosis to their children, there is little research into this communication. The aim of the current study was to examine the relationship between the diagnosis experience and the disclosure experience for parents of children with developmental disorders of a known genetic aetiology: parents of children with 22q11.2 deletion syndrome (22q11DS) were compared with a group of parents with children affected with other genetic diagnoses, with a similar age of diagnosis (e.g. fragile X syndrome) and a group where diagnosis generally occurs early (i.e. Down syndrome). METHOD The sample comprised 559 parents and caregivers of children with genetic developmental disorders, and an online survey was utilised. Items from the questionnaire were combined to create variables for diagnosis experience, parental disclosure experience, childs disclosure experience, and parental coping and self-efficacy. RESULTS Across all groups parents reported that the diagnosis experience was negative and often accompanied by a lack of support and appropriate information. Sixty-eight per cent of those in the 22q11DS and 58.3% in the Similar Conditions groups had disclosed the diagnosis to their child, whereas only 32.7% of the Down syndrome group had. Eighty-six per cent of the Down syndrome group felt they had sufficient information to talk to their child compared with 44.1% of the Similar Conditions group and 32.6% of the 22q11DS group. Parents reported disclosing the diagnosis to their child because they did not want to create secrets; and that they considered the childs age when disclosing. In the 22q11DS and Similar Conditions groups, a poor diagnosis experience was significantly associated with negative parental disclosure experiences. In the Similar Conditions group, a poor diagnosis experience was also significantly associated with a more negative child disclosure experience. CONCLUSIONS As expected this study highlights how difficult most parents find the diagnosis experience. Importantly, the data indicate that the personal experiences the parents have can have a long-term impact on how well they cope with telling their child about the diagnosis. It is important for clinicians to consider the long-term ramifications of the diagnosis experience and give the parents opportunities; through, for instance, psychoeducation to prepare for telling their child about the diagnosis. Further research is warranted to explore what type of information would be useful for parents to receive.

Could I, should I? Parenting aspirations and personal considerations of five young women with 22q11.2 deletion syndrome

ABSTRACT Background This phenomenological study explores the perceptions, hopes, and dreams of relationships and parenting of women with a genetic intellectual disability. Method Five women with both 22q11.2 deletion syndrome (22q11DS) and intellectual disability took part in semistructured interviews. Their subjective interpretations were analysed using interpretative phenomenological analysis. Results Four main themes emerged: (a) challenges and acceptance of having 22q11DS, (b) desire for social acceptance and normality, (c) welcoming of emotional and practical support, and (d) individuation. The themes describe the discordance between the challenges and acceptance of having a genetic disorder, the need to be “normal,” the importance and appreciation of social support, and the women’s aspirations for independence. Conclusions Young women with 22q11DS approach their adulthood with a sense of optimism and personal competence yet recognise their unique challenges. Parental support is valued despite the need for independence. The findings provide insight into the lived experience of women with 22q11DS.

‘At the end of the day, it is more important that he stays happy’: an interpretative phenomenological analysis of people who have a sibling with 22q11.2 deletion syndrome

Background 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome. However, there is little research examining the effect of this multisystem disorder on the family, particularly siblings. The current study was a phenomenological exploration of sense‐making in siblings of a person with 22q11.2DS. Method Interpretative phenomenological analysis informed a detailed and open examination of being a sibling of a person with 22q11.2DS. Using in‐depth semistructured interviews, five typically developing siblings (two men, three women) of people with 22q11.2DS were individually interviewed, providing the data set for transcription and thematic analysis. Results The theme ‘They are the priority’ overarched two subordinate themes that emerged from participants’ descriptions of the struggle with acceptance and finding positive meaning. Participants oscillated between conflicting feelings about their sibling with 22q11.2DS always taking centre stage. For example, they felt anger, guilt and resentment; yet, they also embraced patience, empathy and gratitude. Conclusions This phenomenological study provides a foundation for future research relating to 22q11.2DS and fostering family wellbeing, particularly around acceptance and psychological growth. The siblings in this study actively withdrew from their family to allow prioritisation of their affected sibling. However, this does not mean that their needs should be overlooked. There are easily accessible resources to support siblings of individuals with disabilities, and it is important for health professionals and parents to consider these options.

“You don’t know until you get there”: The positive and negative ‘lived’ experience of parenting an adult child with 22q11.2 deletion syndrome

Objectives: 22q11.2 deletion syndrome (22q11DS), a complex genetic syndrome associated with more than 180 features, presents complex challenges for parents including gaining a diagnosis. This phenomenological study sought the “lived” interpretations of parents supporting an adult child with 22q11DS, a poorly researched area. Method: Interpretative phenomenological analysis informed a detailed and open exploration of parenting a child through to adult life with 22q11DS. Using in-depth semistructured interviews, 8 parents (2 male, 6 female) of adult children with 22q11DS were individually interviewed; providing the data set for transcription and thematic analysis. Results: Losing “I” Finding “self,” overarched 6 subordinate themes that emerged from participants’ articulated descriptions of psychological distress and psychological growth. Distress in parenting a child with 22q11DS was experienced through stigma, loss, grief, and guilt. Progressively, stigma undermined independence, friendships, and instinctual judgement. Ill-informed hierarchical structures experienced as layers of obstruction and lack of awareness of the syndrome triggered angry advocacy for their child. Diagnosis brought opposing relief and grief. In time, they came to value their unique “accomplishments,” collected on their journey with 22q11DS, and in turn, consciously valued authentic “self” expressed through empathy, humility, gratitude, and pride. Conclusion: Parental distress through societal, educational, and health care invalidation persisted for decades for all participants. Conversely, distress facilitated psychological growth for redefining “self” and role as parents over time. Building on this phenomenological cameo, future research can educate against the plight of 22q11DS families. It can enlighten health care professionals in buffering against associated stigma, blame, and self-doubt, and in fostering psychological well-being.

Understanding frames: A UK survey of parents and professionals regarding the use of standing frames for children with cerebral palsy

Abstract Background Standing frames are used for children with cerebral palsy (CP). They may improve body structure and function (e.g., reducing risk of hip subluxation, and improving bladder and bowel function), improving activity (e.g., motor abilities) and participation (e.g., interaction with peers), but there is little evidence that they do. We aimed to identify current UK standing frame practice for children with CP and to understand stakeholder views regarding their clinical benefits and challenges to use. Method Three populations were sampled: clinicians prescribing standing frames for children with CP (n = 305), professionals (health and education) working with children with CP who use standing frames (n = 155), and parents of children with CP who have used standing frames (n = 91). Questionnaires were developed by the co‐applicant group and piloted with other professionals and parents of children with CP. They were distributed online via clinical and parent networks across the UK. Results Prescribing practice was consistent, but achieving the prescribed use was not always possible. Respondents in all groups reported the perceived benefits of frames, which include many domains of the International Classification of Functioning Disability and Health for Children and Youth. Challenges of use are related to physical space and child‐reported pain. Conclusions These survey findings provide information from key stakeholders regarding current UK standing frame practice.

Fifteen-minute consultation: Modern-day art and science of managing cerebral palsy

While there remains limited intervention to address the damage to the developing brain, current multidisciplinary management of cerebral palsy (CP) needs to minimise the impact of secondary musculoskeletal complications. A focus on comorbidities to maximise function for activity and participation by supporting the child and family in their environment is required. Comprehensive clinical guidance was published by National Institute for Health and Care Excellence (NICE) earlier this year. This article aims to provide a practical clinical approach to the child and family based on:(1) art: empathy, listening and weighing up the clinical picture of the child and family in context; diagnosis, the need for support and space; and care coordination at the right time; and (2) science: the current science in CP care is rapidly expanding in terms of plasticity, pathophysiology, functional assessments and treatments.

Understanding Frames: Evaluating “inherited” clinical practice in children and young people with cerebral palsy

Aims Standing frames are widely used as part of postural management. They may improve body structure and function, activity, and participation, but there is little evidence that they do. ‘Understanding Frames’ is a study evaluating the acceptability and feasibility of a future trial to determine the efficacy of standing frames for children and young people (CYP) with cerebral palsy. It provides insight into the practicalities of generating evidence for interventions that are used routinely in disabled children with multiple needs. Method This is an ongoing sequential mixed-methods study. The first stage was a survey of current UK practice. Questionnaires were completed by three groups: clinicians prescribing standing frames for children with CP (n=305), professionals (health and education) working with children with CP who use standing frames (n=155), and parents of children with CP who have used standing frames (n=91). Then, a series of focus groups were conducted to examine various stakeholders’ perceptions of the feasibility and acceptability of a standing frames trial. Participants included physiotherapists, clinicians, parents, and educational professionals. Interviews were held with twelve CYP who use standing frames. Results Questionnaire respondents suggested that standing frames improve body structure and function (e.g. reducing risk of hip subluxation), activity (e.g. motor abilities), and participation (e.g. peer interaction). However, there are many challenges associated with their use including physical space and the child’s choice. This qualitative analysis has revealed rich insight into the perceptions of various stakeholders, including CYP. In particular, a focus group of paediatricians and orthopaedic surgeons revealed the ethical entanglement of a) withdrawing treatment that has potential benefit as part of a research trial; and b) continuing the same treatments without good quality evidence for their use. CYP reported commitment to an intervention in their daily life; which may be challenging, but may improve long term outcome. Conclusions Understanding Frames continues to provide essential information about trial design for complex interventions, using standing frames for postural management of CYP with cerebral palsy, as an exemplar. The final stage of Understanding Frames is to complete a second survey of key stakeholders regarding the feasibility of specific trial designs.