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Health care concerns in parents of children with different genetic developmental and epileptic encephalopathies: A
Domingo Palacios-Ceña1, Javier Güeita-Rodríguez1, Antonio Gil-Nagel2
1Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Research Group of Humanities and Qualitative Research in Health Science, Universidad Rey Juan Carlos, Alcorcón, Spain.
Insights
Parents of children with developmental and epileptic encephalopathies (DEEs) face uncertainty managing seizures and treatments, often making critical decisions without clear medical guidance. Improved emergency department care and knowledge of DEEs are crucial for these families.
Area of Science:
- Pediatric Neurology
- Genetics
- Rare Diseases
Background:
- Developmental and Epileptic Encephalopathies (DEEs) are severe neurological disorders.
- Specific genetic variants (SCN1A, KCNQ2, CDKL5, PCDH19, GNAO1) cause DEEs in children.
- Parental experiences and unmet needs in managing DEEs are not well-documented.
Purpose of the Study:
- To explore the lived experiences of parents caring for children with DEEs.
- To identify unmet medical care needs in this population.
- To understand challenges related to symptom management, treatment decisions, and healthcare interactions.
Main Methods:
- Qualitative descriptive study utilizing in-depth interviews and researcher field notes.
- Purposeful sampling of 21 parents of children (aged 4-10) with DEEs linked to specific genetic variants.
- Thematic analysis of collected data.
Main Results:
- Parents experience significant uncertainty managing epileptic seizures and associated cognitive, behavioral, and motor symptoms.
- Treatment decisions, including medication adjustments, are often placed on parents due to a lack of defined protocols.
- Interactions with healthcare professionals, particularly in emergency departments, can negatively impact the therapeutic relationship and parental trust.
Conclusions:
- Emergency department professionals require enhanced knowledge of DEEs to provide better support to families.
- A standardized approach to treatment protocols and improved communication are needed.
- This research can inform the development of caregiver-reported outcomes for future clinical trials and targeted therapies for DEEs.
Aim:
To describe the experiences and unmet medical care needs of a group of parents of children with developmental and epileptic encephalopathies (DEEs) caused by the SCN1A, KCNQ2, CDKL5, PCDH19, and GNAO1 variants.
Method:
A qualitative descriptive study was conducted. Participants were recruited using purposeful sampling. The inclusion criteria consisted of parents of children with DEEs caused by the SCN1A, KCNQ2, CDKL5, PCDH19, or GNAO1 variants, aged between 4 and 10 years old. In total, 21 parents were included. Data were acquired via researcher field notes and in-depth interviews. A thematic analysis was performed.
Results:
Three main themes were identified: (1) managing symptoms: epileptic seizures are experienced with great uncertainty and are accompanied by cognitive, behavioural, and motor symptoms; (2) accepting treatment: the ideal medication regimen is a challenge and the decision to withdraw or start a new therapy falls on the parents; and (3) therapeutic relationship and medical care: behaviours related to the health professional can hinder the therapeutic relationship with the parents. Parents are apprehensive about going to the emergency department.
Interpretation:
Professionals in emergency departments should acquire better knowledge of DEEs, welcome parents, and improve treatment for the children. The results of this study can serve as a starting point for a roadmap of relevant caregiver-reported outcomes in DEEs, to be implemented with new clinical trials and aetiology-targeted therapies.
What This Paper Adds:
Epileptic seizures are the symptom that is most experienced and feared by parents. The medication regime has no defined protocol and the decision to withdraw a medication is frequently left to parents.
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