METHODS: We conducted an integrative literature review using PubMed, Web of Science and CINAHL employing keywords \"genetic diagnosis delivery,\" \"genetic diagnosis disclosure,\" \"sex chromosome aneuploidy,\" \"Klinefelter syndrome\" or \"\"47, XXY,\" \"Jacob syndrome\" or \"47, XYY,\" \"Trisomy X,\" \"Triple X\" or \"47, XXX,\" and \"48 XXYY from January 1, 2000, to October 31, 2023.
RESULTS: Literature supports that patients and parents value the provision of up-to-date information and connection with supportive resources. Discussion of next steps of care, including relevant referrals, prevents perceptions of provider abandonment and commitment to ongoing support. Proactively addressing special concerns such as disclosing the diagnosis to their child, family, and community is also beneficial. Tables are provided for useful information resources, medical specialties that may be required to support patients, and common misconceptions that interfere with accurate information about the diagnosis.
CONCLUSIONS: Patient experiences suggest there should be heightened attention to diagnosis delivery, in reference to the broader ethical and social impacts of a SCM diagnosis. We present recommendations for optimal disclosure of a SCM diagnosis in early and late childhood, adolescence, and young adulthood.
方法:我们使用PubMed进行了综合文献综述,科学网和CINAHL采用关键词“基因诊断交付”,基因诊断披露,性染色体非整倍性,\"\"Klinefelter综合征\"或\"\"47,XXY,\"\"雅各布综合征\"或\"47,XYY,\"\"三体X,\"\"三X\"或\"47,XXX,“和”48XXYY从2000年1月1日至2023年10月31日。
结果:文献支持患者和父母重视提供最新信息和与支持资源的联系。讨论下一步的护理,包括相关的转介,防止对提供者放弃和承诺持续支持的看法。积极解决特殊问题,例如向孩子披露诊断结果,家庭,社区也是有益的。提供了有用的信息资源,可能需要支持患者的医学专业,以及常见的误解会干扰有关诊断的准确信息。
结论:患者经验表明,应加强对诊断交付的关注,关于SCM诊断的更广泛的道德和社会影响。我们提出了在儿童早期和晚期最佳披露SCM诊断的建议,青春期,和年轻的成年。