Program in Genetic Counseling, University of Colorado, Aurora, Colorado, USA.
Section of Developmental Pediatrics, Department of Pediatrics, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA.
Am J Med Genet A. 2022 Jul;188(7):2110-2118. doi: 10.1002/ajmg.a.62751. Epub 2022 Apr 1.
Angelman syndrome (AS) is a rare neurodevelopmental condition affecting approximately 1 in 15,000 individuals. To date, limited research elucidates how parents communicate about AS with unaffected siblings and their needs. This study aimed to understand if, when, and what parents are communicating with unaffected siblings. The study also evaluated unaffected siblings' knowledge of AS and their perceptions of their siblings with AS. Recruitment took place through social media platforms and a multidisciplinary Chromosome 15 clinic. Families were eligible for the study if they had a child diagnosed with AS and at least one unaffected sibling age five years or older. Two novel surveys, one for the parent and one for each of the unaffected siblings, were created based on a detailed literature review and input from AS professionals. Eighty-two families met the criteria and completed the required surveys. The majority of parents (94%) discussed AS with the unaffected siblings, but despite these discussions 41% of unaffected siblings still had unanswered questions. This study highlights the need for improved communication between parents and the unaffected siblings and emphasizes the importance of educational materials for unaffected siblings.
安琪曼氏症候群（AS）是一种罕见的神经发育疾病，影响约每 15000 人中的 1 人。迄今为止，有限的研究阐明了父母如何与未受影响的兄弟姐妹及其需求进行沟通。本研究旨在了解父母是否、何时以及与未受影响的兄弟姐妹沟通什么。该研究还评估了未受影响的兄弟姐妹对 AS 的了解以及他们对患有 AS 的兄弟姐妹的看法。通过社交媒体平台和多学科 15 号染色体诊所进行招募。如果一个家庭有一个被诊断患有 AS 的孩子和至少一个五岁或以上的未受影响的兄弟姐妹，他们就有资格参加这项研究。根据详细的文献回顾和 AS 专业人士的意见，为父母和每个未受影响的兄弟姐妹分别创建了两个新的调查。82 个家庭符合条件并完成了所需的调查。大多数父母（94%）与未受影响的兄弟姐妹讨论了 AS，但尽管进行了这些讨论，仍有 41%的未受影响的兄弟姐妹仍有未解答的问题。这项研究强调了需要加强父母与未受影响的兄弟姐妹之间的沟通，并强调了为未受影响的兄弟姐妹提供教育材料的重要性。
