Luquetti Daniela V, Brajcich Michelle R, Stock Nicola M, Heike Carrie L, Johns Alexis L
Seattle Children's Hospital, Craniofacial Center, Seattle Children's Research Institute, University of Washington, Department of Pediatrics, 1900 Ninth Avenue, Mailstop C9S-5, Seattle, WA, 98101, USA.
University of Washington, School of Medicine, 1959 NE Pacific St., Seattle, WA, 98195, USA.
Int J Pediatr Otorhinolaryngol. 2018 Apr;107:164-175. doi: 10.1016/j.ijporl.2018.02.007. Epub 2018 Feb 7.
Craniofacial microsomia (CFM) is primarily characterized by underdevelopment of the ear and mandible, with several additional possible congenital anomalies. Despite the potential burden of care and impact of CFM on multiple domains of functioning, few studies have investigated patient and caregiver perspectives. The objective of this study was to explore the diagnostic, treatment-related, and early psychosocial experiences of families with CFM with the aim of optimizing future healthcare delivery.
Forty-two caregivers and nine adults with CFM responded to an online mixed-methods survey. Descriptive statistics and qualitative methods were used for the analysis.
Survey respondents reported high rates of subspecialty evaluations, surgeries, and participation in therapies. Some participants reported receiving inaccurate or incomplete information about CFM and experienced confusion about etiology. Communication about CFM among family members included mostly positive messages. Self-awareness of facial differences began at a mean age of three years and teasing at mean age six, with 43% of individuals four years or older reporting teasing. Teasing often involved name-calling and frequent reactions were ignoring and negative emotional responses. Participants ranked "understanding diagnosis and treatment" as a top priority for future research and had the most questions about etiology and treatment guidance.
The survey results on the healthcare and psychosocial experiences from birth through adulthood of individuals with CFM reinforce the need for ongoing psychological assessment and intervention. Healthcare provision could be improved through establishing diagnostic criteria and standardized treatment guidelines, as well as continued investigation of CFM etiology.
颅面短小畸形（CFM）主要特征为耳部和下颌骨发育不全，还可能伴有其他多种先天性异常。尽管CFM可能带来护理负担并对多个功能领域产生影响，但很少有研究调查患者及其照顾者的观点。本研究的目的是探索CFM家庭的诊断、治疗相关及早期心理社会经历，以优化未来的医疗服务。
42名照顾者和9名患有CFM的成年人对一项在线混合方法调查做出了回应。采用描述性统计和定性方法进行分析。
调查受访者报告了较高的专科评估、手术和参与治疗的比例。一些参与者报告收到了关于CFM的不准确或不完整信息，并对病因感到困惑。家庭成员之间关于CFM的交流大多包含积极信息。对面部差异的自我认知平均始于3岁，受嘲笑平均始于6岁，43%的4岁及以上个体报告曾遭嘲笑。嘲笑通常包括辱骂，常见反应是忽视和负面情绪反应。参与者将“了解诊断和治疗”列为未来研究的首要任务，对病因和治疗指导的问题最多。
关于CFM患者从出生到成年的医疗和心理社会经历的调查结果强化了持续进行心理评估和干预的必要性。通过建立诊断标准和标准化治疗指南，以及继续对CFM病因进行研究，可以改善医疗服务。
