Pierpont Elizabeth I, Wolford Melinda
Division of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota.
Department of Counseling, Special Education and School Psychology, Youngstown State University, Youngstown, Ohio.
Am J Med Genet A. 2016 Aug;170(8):1974-88. doi: 10.1002/ajmg.a.37725. Epub 2016 May 5.
The present study is an investigation of behavioral functioning in children with cardiofaciocutaneous syndrome (CFC). CFC is a rare single-gene disorder associated with cardiac disease, characteristic skin and facial features, intellectual disability, and neurological complications such as seizures and structural brain anomalies. Emotional and behavioral features of CFC have not been systematically investigated. We aimed to identify key variables that contribute to psychopathology during childhood and adolescence, and to examine the impact of challenging behaviors on the caregiving experience. Parents of 34 children and adolescents with CFC completed standardized broadband measures of child emotional and behavioral functioning, as well as measures of sensory modulation, functional communication, and caregiver stress. Results indicate that children with CFC syndrome are at heightened risk for psychopathology, with attention problems, social difficulties, and unusual behaviors (e.g., obsessive thoughts, strange behaviors, repetitive acts) found to be especially prevalent. Behavioral challenges in children with CFC syndrome were significantly associated with a history of obstetric complications and with problems modulating sensory information. With regard to the impact of child neurocognitive and behavioral issues on the caregiving experience, parent self-reported stress was significantly higher among parents of children who engaged in more problem behaviors, and lower among parents whose children could communicate effectively with others. Results of this study suggest avenues to help families cope with CFC-related stressors and enhance overall functioning. In particular, this study highlights the need for educational and treatment interventions aimed at addressing sensory needs, increasing functional communication, and identifying and managing challenging behaviors. © 2016 Wiley Periodicals, Inc.
本研究旨在调查患有心脏颜面皮肤综合征（CFC）的儿童的行为功能。CFC是一种罕见的单基因疾病，与心脏病、特征性皮肤和面部特征、智力残疾以及癫痫和结构性脑异常等神经并发症有关。CFC的情绪和行为特征尚未得到系统研究。我们旨在确定导致儿童期和青少年期精神病理学的关键变量，并研究具有挑战性的行为对照顾体验的影响。34名患有CFC的儿童和青少年的父母完成了关于儿童情绪和行为功能的标准化综合测量，以及感觉调节、功能性沟通和照顾者压力的测量。结果表明，患有CFC综合征的儿童患精神病理学的风险更高，注意力问题、社交困难和异常行为（如强迫观念、奇怪行为、重复行为）尤其普遍。患有CFC综合征的儿童的行为挑战与产科并发症史以及感觉信息调节问题显著相关。关于儿童神经认知和行为问题对照顾体验的影响，在有更多问题行为的儿童的父母中，父母自我报告的压力显著更高，而在其孩子能够与他人有效沟通的父母中，压力则较低。本研究结果提出了帮助家庭应对与CFC相关的压力源并提高整体功能的途径。特别是，本研究强调了针对满足感觉需求、增加功能性沟通以及识别和管理具有挑战性的行为的教育和治疗干预措施的必要性。©2016威利期刊公司
