Garcia-Bravo Cristina, Palacios-Ceña Domingo, Aledo-Serrano Ángel, Güeita-Rodríguez Javier, Velarde-García Juan Francisco, Cuenca-Zaldivar Juan Nicolas, Marconnot Romain, Alonso-Blanco María Cristina, Pérez-Corrales Jorge, Jimenez-Antona Carmen
Research Group of Humanities and Qualitative Research in Health Science of Universidad Rey Juan Carlos (Hum&QRinHS) & Research Group in Evaluation and Assessment of Capacity, Functionality and Disability of Universidad Rey Juan Carlos (TO+IDI), Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Universidad Rey Juan Carlos, Alcorcón, Spain.
Research Group of Humanities and Qualitative Research in Health Science of Universidad Rey Juan Carlos (Hum&QRinHS), Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Universidad Rey Juan Carlos, Alcorcón, Spain.
Ann Med. 2025 Dec;57(1):2446702. doi: 10.1080/07853890.2024.2446702. Epub 2024 Dec 28.
This study describes the experience of parents of children with developmental and epileptic encephalopathies (DEE) and how the disease impacts their daily lives.
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.
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.
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.
本研究描述了患有发育性和癫痫性脑病（DEE）儿童的父母的经历，以及该疾病如何影响他们的日常生活。
采用目的抽样法进行描述性定性研究。纳入了21名其子女因SCN1A、KCNQ2、CDKL5、PCDH19和GNAO1基因变异而患有DEE的父母。数据收集基于深入访谈和研究人员的实地记录。进行了归纳主题分析。
出现了五个主题：（a）诊断过程，描述了从父母认识到最初症状到获得诊断确认的过程；（b）寻求诊断过程中与医疗专业人员的关系，描述了整个过程如何受到所建立关系的制约；（c）残疾世界，揭示了疾病和残疾如何影响父母的生活；（d）日复一日的生活，父母会因预期癫痫发作而不断改变计划；（e）疾病进展，这是父母极为关注的一个原因。
我们的结果表明，需要制定综合健康和社会干预措施的康复计划，以在诊断和疾病管理过程中支持患有DEE儿童的父母。
