Parent experiences of GT for their child with epilepsy/DEE
Research type
Research Study
Full title
“Exploring the role of genetic testing in parents’ psychological adjustment to their child’s epilepsy or Developmental and Epileptic Encephalopathy (DEE) diagnosis using grounded theory”.
IRAS ID
340600
Contact name
Liam Dorris
Contact email
Sponsor organisation
University of Glasgow
Duration of Study in the UK
0 years, 10 months, 23 days
Research summary
Summary of Research
Background: The clinical utility of genetic testing for children with developmental and epileptic encephalopathy (DEE) has been clearly documented. Recent studies examining the personal utility of genetic testing for parents of these children have identified cognitive, behavioural, and affective factors impacted by the genetic testing process. However, these factors do not explain how genetic testing may be helpful in supporting psychological adjustment to their child’s diagnosis (Hayeems, Luca, Assamad, Bhatt, & Ungar; 2021).
Aims: To determine the role of early/timely genetic testing in children with DEE and treatment resistant epilepsy on parental adjustment to their child’s diagnosis and to determine the underlying processes by which this happens.
Methods: Focus group data from 25-30 parents of children with developmental and epileptic encephalopathy will be coded and categorised. Consistent with Charmaz’s approach to grounded theory, these categories will be used to develop an explanatory theoretical model grounded in the data, which outlines the role of genetic testing in parental adjustment to their child’s diagnosis of DEE/treatment-resistant epilepsy.
Practical Applications: The study could support the development of psychologically informed resources for parents to support adjustment to their child’s diagnosis and help to define the personal utility of genetic testing more clearly for parents of children with DEEs and treatment-resistant epilepsy.
Summary of Results
Background Developmental and epileptic encephalopathy (DEE) refers to a group of conditions typically diagnosed in childhood or infancy. They are characterised by severe recurrent seizures and seizure activity which affects brain development and functioning. They can result in significant problems as the child develops such as learning disabilities and behavioural problems. Often these conditions are found to be linked to a single gene abnormality or mutation (Scheffer et al., 2017).
Genetic testing has become a valuable tool for identifying the cause and type of DEE which can provide key information with implications for treatment and prognosis. The research available to date provides a description of parents’ experiences of genetic testing and suggests it may be helpful for supporting parents to adapt to and accept their child’s diagnosis but does not provide an explanation of the processes by which genetic testing contributes to this adjustment (Hayeems, Luca, Assamad, Bhatt, & Ungar, 2021).
Aims & Research Questions:
To determine the role of early/timely genetic testing of children with DEE and treatment resistant epilepsy on parental adjustment to their child’s diagnosis What is the impact of genetic testing on how parents think about and perceive their child’s diagnosis?
If genetic testing contributes to changes in thinking about their child’s diagnosis; do these changes facilitate psychological adjustment to and acceptance of their child’s condition?Methods
Participants included 9 parents who had undergone genetic testing for their child with DEE or treatment-resistant epilepsy. Participants engaged in intensive interviews via Microsoft Teams or phone with the main researcher. These interviews were transcribed word for word and analysed using qualitative research methods. The methods employed for this study were grounded theory (Charmaz, 2014). This involves systematically gathering and analysing qualitative data to generate a theory that explains processes or people’s behaviour and perspectives.
Results
The results are presented in the form of a substantive theory which highlights that managing uncertainty is a strong focus for parents when their child first becomes unwell or when they notice differences in their development. Parents then embark on a journey to reduce this uncertainty by getting answers for their child with the hope that they will access a treatment or change to medical management of their child’s condition. Parents often find that this is not possible, and they begin the process of shifting and changing their expectations of themselves as parents (parental role consolidation), their child, the diagnosis or genetic testing outcome, and the future. Results indicate that parents have enormous capacity for adjustment, and this is a subjective process influenced by pre-testing hopes and expectations and appraisals made about the meaning of the genetic testing outcome for their child. (Please see Figure 1 below).
Ethical Issues
Relevant ethical approvals were in place before data collection began. Participants were provided with study information and gave informed consent before participating in interviews. Data was stored safely and securely in line with University and NHS policies and procedures in line with the research protocol.
Practical Applications and Dissemination This study brings a valuable psychological perspective to this area of research which could support the development of resources for parents to support adjustment to their child’s diagnosis.REC name
West of Scotland REC 5
REC reference
24/WS/0055
Date of REC Opinion
21 May 2024
REC opinion
Favourable Opinion