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

Purpose: This study describes the experience of parents of children with developmental and epileptic encephalopathies (DEE) and how the disease impacts their daily lives.

Materials And Methods: A descriptive qualitative study was conducted using purposeful sampling. Twenty-one parents of children with DEEs caused by SCN1A, KCNQ2, CDKL5, PCDH19, and GNAO1 variants were included. Data collection was based on in-depth interviews and researchers' field notes. An inductive thematic analysis was performed.

Results: Five themes emerged: (a) the diagnostic process, which describes the path from the time parents recognize the first symptoms until diagnostic confirmation is obtained; (b) the relationship with health professionals during the search for a diagnosis, which describes how the entire process is conditioned by the relationships established; (c) the world of disability, revealing how the disease and disability impact the life of the parents; (d) living day to day, the parents continuously change their plans in anticipation of the onset of a seizure; (e) the disease progression, a cause of great concern in the parents.

Conclusions: Our results show the need to develop recovery programs that integrate health and social interventions to support parents of children with DEE in the process of diagnosis and disease management.