Elmaoğlu Erhan, Coşkun Adnan Batuhan, Usgu Serkan, Çiğdem Zerrin, Alsaç Selda Yüzer
Department of Nursing, Kilis 7 Aralik University, Faculty of Health Sciences, Kilis, Turkey.
Department of Nursing, Hasan Kalyoncu University, Faculty of Health Sciences, Gaziantep, Turkey.
Am J Med Genet A. 2025 Aug 1:e64213. doi: 10.1002/ajmg.a.64213.
This study examines the quality of life, functional independence, and family impact of children diagnosed with Joubert Syndrome (JS) to address gaps in the literature on its developmental and psychosocial challenges. A descriptive, cross-sectional study was conducted with 49 parents of children with JS in Turkey. Data were collected using the Pediatric Quality of Life Inventory, Pediatric Functional Independence Measure, and Impact on Family Scale. Statistical analyses included descriptive and reliability assessments. Children with JS exhibited significant motor and cognitive delays, reduced functional independence, and lower quality of life. Feeding difficulties affected 38.8% of participants, highlighting the need for early nutritional interventions. Consanguineous marriage was reported by 61.2% of families, yet only 8.2% underwent genetic screening, emphasizing the importance of genetic counseling. Parents faced high psychosocial and economic burdens, underscoring the need for structured family support programs. The findings highlight the need for early, multidisciplinary interventions, including physical and speech therapy, nutritional support, and psychosocial care, to enhance functional independence and overall well-being. A comprehensive care model integrating neurology, pulmonology, rehabilitation, and genetic counseling is essential for improving outcomes in JS. A family-centered, multidisciplinary approach should be prioritized to improve patient care and caregiver support. Expanding rehabilitation services, genetic counseling, and structured family education can enhance long-term quality of life and independence in children with JS.
本研究调查了被诊断为儒贝尔综合征（JS）的儿童的生活质量、功能独立性和家庭影响，以填补关于其发育和心理社会挑战的文献空白。在土耳其对49名患有JS的儿童的父母进行了一项描述性横断面研究。使用儿童生活质量量表、儿童功能独立性测量量表和家庭影响量表收集数据。统计分析包括描述性和可靠性评估。患有JS的儿童表现出明显的运动和认知延迟、功能独立性降低和生活质量较低。喂养困难影响了38.8%的参与者，凸显了早期营养干预的必要性。61.2%的家庭报告有近亲结婚情况，但只有8.2%的家庭接受了基因筛查，强调了遗传咨询的重要性。父母面临着很高的心理社会和经济负担，突出了结构化家庭支持项目的必要性。研究结果强调需要早期的多学科干预，包括物理治疗和言语治疗、营养支持和心理社会护理，以提高功能独立性和整体幸福感。整合神经学、肺病学、康复和遗传咨询的综合护理模式对于改善JS的治疗效果至关重要。应以家庭为中心的多学科方法为优先，以改善患者护理和照顾者支持。扩大康复服务、遗传咨询和结构化家庭教育可以提高患有JS的儿童的长期生活质量和独立性。
