Carter Rebecca D, Raia Marianna, Ewing-Cobbs Linda, Gambello Michael, Hashmi S Shahrukh, Peterson Susan K, Robbins-Furman Patricia, Potocki Lorraine
Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Texas Medical School at Houston, 6410 Fannin St., Ste. 1217, Houston, TX, USA, 77030,
J Genet Couns. 2013 Oct;22(5):633-42. doi: 10.1007/s10897-013-9602-6. Epub 2013 May 25.
Potocki-Lupski syndrome (PTLS) or duplication 17p11.2 syndrome is a newly characterized condition causing a variety of health problems with variable severity, including failure to thrive in infancy and childhood, hypotonia, structural heart anomalies, cognitive impairments, speech and learning difficulties, and autism. Due to its recent clinical characterization little is known about the psychosocial impact of this condition on patients and their families. This study evaluated whether parental psychosocial outcomes were associated with children's PTLS disease severity. Parents of 58 children with PTLS completed a cross-sectional survey that assessed parental stress, quality of life, and coping skills. Parental functioning was associated with greater severity of feeding difficulty and with lower severity of a cardiovascular defect. Findings from this study highlight potential support needs of parents of children affected by PTLS and suggest ways in which these needs may be addressed.
波托基-卢普斯基综合征（PTLS）或17p11.2重复综合征是一种新发现的疾病，会引发各种严重程度不一的健康问题，包括婴幼儿期和儿童期生长发育迟缓、肌张力减退、心脏结构异常、认知障碍、言语和学习困难以及自闭症。由于其近期才得到临床特征描述，对于这种疾病对患者及其家庭的心理社会影响知之甚少。本研究评估了父母的心理社会状况是否与儿童PTLS的疾病严重程度相关。58名PTLS患儿的父母完成了一项横断面调查，该调查评估了父母的压力、生活质量和应对技巧。父母的功能状况与喂养困难的严重程度较高以及心血管缺陷的严重程度较低相关。本研究结果凸显了PTLS患儿父母潜在的支持需求，并提出了满足这些需求的可能途径。
