Living with and managing seizures among parents of children diagnosed with Phelan-McDermid syndrome a qualitative study using in-depth interviews

To describe the experience of parents of children diagnosed with Phelan-McDermid syndrome (PMS) in relation to epileptic seizures and/or convulsions, their daily management and impact on family life. A qualitative descriptive study was conducted. The study included parents of children diagnosed with...

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Detalles Bibliográficos
Autores: García-Bravo, Cristina, Martínez-Piédrola, Rosa María, García-Bravo, Sara, Rodríguez-Pérez, María Pilar, San-Martín-Gómez, Ana, Fernández-Gómez, Gemma, Palacios-Ceña, Domingo
Tipo de recurso: artículo
Fecha de publicación:2023
País:España
Institución:Universidad Rey Juan Carlos
Repositorio:BURJC-Digital. Repositorio Institucional de la Universidad Rey Juan Carlos
OAI Identifier:oai:burjcdigital.urjc.es:10115/29863
Acceso en línea:https://hdl.handle.net/10115/29863
Access Level:acceso abierto
Palabra clave:Phelan McDermid Syndrome
Telomeric22q13 monosomy syndrome
seizure
parents
qualitative research
Descripción
Sumario:To describe the experience of parents of children diagnosed with Phelan-McDermid syndrome (PMS) in relation to epileptic seizures and/or convulsions, their daily management and impact on family life. A qualitative descriptive study was conducted. The study included parents of children diagnosed with PMS by a medical specialist. Purposive sampling was used, and data were collected via in-depth interviews. A thematic analysis was performed on the data. This study was conducted according to the Standards for Reporting Qualitative Research. Thirty-two parents were recruited. Four themes were identified: (a) the first epileptic seizure, where the first seizure appears abruptly and unexpectedly; (b) living with seizures, seizures generate high concern about the evolution of the disease and the future of children with PMS; (c) treatment of epileptic seizures, obtaining an adequate treatment is a long process that involves decision making by parents; (d) the impact of epilepsy on the family, where there is a change in the functioning and relationships among family members. Conclusions: It is necessary to develop programs where parents can discuss treatment decisions with professionals and provide coping strategies for the management of epilepsy and seizures.