García-Bravo, CristinaMartínez-Piédrola, Rosa MaríaGarcía-Bravo, SaraRodríguez-Pérez, María PilarSan-Martín-Gómez, AnaFernández-Gómez, GemmaPalacios-Ceña, Domingo2024-02-072024-02-072023García-Bravo C, Martínez-Piédrola RM, García-Bravo S, Rodríguez-Pérez MP, Martín-Gómez AS, Fernández-Gómez G, Palacios-Ceña D. Living with and managing seizures among parents of children diagnosed with Phelan-McDermid syndrome: a qualitative study using in-depth interviews. Eur J Pediatr. 2023 Oct 23. doi: 10.1007/s00431-023-05285-60340/6199https://hdl.handle.net/10115/29863To 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.engPhelan McDermid SyndromeTelomeric22q13 monosomy syndromeseizureparentsqualitative researchinfo:eu-repo/semantics/article10.1007/s00431-023-05285-6info:eu-repo/semantics/openAccess