Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA.
4p-Support Group, Delaware, Ohio, USA.
Am J Med Genet A. 2021 Jul;185(7):2065-2069. doi: 10.1002/ajmg.a.62220. Epub 2021 May 5.
Wolf-Hirschhorn syndrome (WHS) is a contiguous gene disorder consisting of prenatal and postnatal growth deficiency, distinctive craniofacial features, intellectual disability, and seizures. The condition is caused by a partial loss of material from the distal portion of the short arm of chromosome 4 (4p16.3). While there are many reports of individuals with WHS, useful data on long-term survival and life status of adults with the syndrome are very limited. There are only 11 reports of individuals over the age of 18 years in the literature. Establishing the medical manifestations of adults with WHS would be helpful in establishing appropriate health supervision guidelines. This study was one component of a two-part investigation on adults with WHS. This patient-reported outcomes study (PROS) was accomplished by using the registry of rare diseases at Sanford Research, Coordination of Rare Diseases (CoRDS)at Sanford. Thirty family members or caretakers of 30 adults with WHS/4p- entered into the CoRDS registry and completed some or all of the survey data. Twelve caretakers completed the recently-added survey on activities of daily living. Two of the individuals with WHS were partly independent while 10 required total care. The results provide novel information on daily life and independence in adults with WHS. Importantly, the majority of caretakers reported that the adults were in good health. The data from both parts of the study will contribute to our knowledge of the natural history of the syndrome and guide in establishing appropriate health supervision guidelines for adults with WHS.
沃尔夫-赫希霍恩综合征（WHS）是一种连续基因疾病，包括产前和产后生长发育不良、独特的颅面特征、智力障碍和癫痫发作。该病症是由染色体 4（4p16.3）短臂远端部分物质部分缺失引起的。虽然有许多关于 WHS 个体的报道，但关于该综合征成年人长期生存和生活状况的有用数据非常有限。文献中仅有 11 例年龄超过 18 岁的个体的报告。确定 WHS 成年人的临床表现将有助于制定适当的健康监督指南。这项研究是对 WHS 成年人进行的两部分调查的一部分。这项患者报告结局研究（PROS）是通过在桑福德研究的罕见疾病注册处（Sanford Research， Coordination of Rare Diseases (CoRDS)at Sanford）完成的。30 名 WHS/4p-患者的 30 名家庭成员或护理人员进入 CoRDS 登记处，并完成了部分或全部调查数据。12 名护理人员完成了最近添加的日常生活活动调查。2 名 WHS 患者部分独立，而 10 名患者需要全面护理。结果提供了关于 WHS 成年人日常生活和独立性的新信息。重要的是，大多数护理人员报告说成年人身体健康。该研究两部分的数据将有助于我们了解该综合征的自然病史，并指导制定 WHS 成年人的适当健康监督指南。
