García-Bravo, CristinaMartínez-Piédrola, Rosa MGarcía-Bravo, SaraHuertas-Hoyas, ElisabetPérez-De-Heredia-Torres, MartaPalacios-Ceña, Domingo2023-12-212023-12-212022-07García-Bravo C, Martínez-Piédrola RM, García-Bravo S, Huertas-Hoyas E, Pérez-De-Heredia-Torres M, Palacios-Ceña D. Experiences surrounding the diagnostic process and care among parents of children diagnosed with Phelan-McDermid syndrome: A qualitative study. Dev Med Child Neurol. 2023 Jul;65(7):908-916. doi: 10.1111/dmcn.15485.00121622https://hdl.handle.net/10115/27573Indices de Calidad: JCR (2016): SCIE 17/130 T1 Q1 Factor de impacto: 3.8Aim: To explore the experience of parents of children diagnosed with Phelan-McDermid syndrome (PMS) with regard to the diagnostic process, treatment, and medical care. Method: A qualitative descriptive study was conducted. Participants were recruited using non-probabilistic purposeful sampling. In total, 32 parents with children with PMS were included. In-depth interviews and researcher field notes were used. An inductive thematic analysis was performed. Results: Five themes were identified: (1) the 'diagnostic process' describes the diagnostic process and how it is communicated to the parents; (2) 'treatment and expectations' describes the expectations and hopes placed on future treatment; (3) 'family planning' describes how parents deal with genetic counselling when planning to have more children after a diagnosis of PMS; (4) 'the world of disability' describes the entry of parents into an environment of dependency and disability after the diagnosis; (5) 'family's financial situation' highlights the financial difficulties due to the high cost of therapies and daily care products. Interpretation: Our results provide insight on how a diagnosis of PMS and its consequences are experienced by parents of children with PMS. These results can be used by health professionals to help and support parents.engAttribution-NonCommercial-NoDerivatives 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-nd/4.0/Childinfo:eu-repo/semantics/article10.1111/dmcn.15485.info:eu-repo/semantics/openAccess