Real-world experience of diagnosis, disability, and daily management in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study
2024

Parents' Experiences with Children Having Genetic Developmental and Epileptic Encephalopathies

Sample size: 21 publication Evidence: moderate

Author Information

Author(s): C. Garcia-Bravo, D. Palacios-Ceña, A. Aledo-Serrano, J. Güeita-Rodríguez, J. Velarde-García, J. Cuenca-Zaldivar, R. Marconnot, M. C. Alonso-Blanco, J. Pérez-Corrales, C. Jimenez-Antona

Primary Institution: Universidad Rey Juan Carlos, Alcorcón, Spain

Hypothesis

How do parents of children with developmental and epileptic encephalopathies experience diagnosis, disability, and daily management?

Conclusion

The study highlights the need for recovery programs that integrate health and social interventions to support parents of children with DEE.

Supporting Evidence

  • Parents described the diagnostic process as a tortuous path filled with uncertainty.
  • Many parents felt that health professionals downplayed the importance of their concerns.
  • Receiving the diagnosis was often described as a shattering experience for parents.
  • Parents reported a significant change in their roles, focusing primarily on caregiving.
  • Living day-to-day was emphasized, with parents often unable to make long-term plans.

Takeaway

This study talks about how parents feel when their kids have serious health issues, showing that they need more help and support.

Methodology

A qualitative descriptive study using purposeful sampling and in-depth interviews.

Limitations

Results may not be generalizable to all parents with children with DEE due to the qualitative nature of the study.

Participant Demographics

Parents of children aged 4 to 10 with specific genetic variants.

Digital Object Identifier (DOI)

10.1080/07853890.2024.2446702

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