PDF(Pubmed)
Abstract：
BACKGROUND: The diagnosis of supernumerary X & Y chromosome variations has increased following the implementation of genetic testing in pediatric practice. Empirical evidence suggests that the delivery of the diagnosis has a lasting impact on how affected individuals and their parents perceive and adapt to the diagnosis. The purpose of this review is to synthesize the literature to obtain useful recommendations for delivering a pediatric diagnosis of a sex chromosome multisomy (SCM) based upon a growing body of quantitative and qualitative literature on patient experiences.
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.
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.
摘要：
背景：在儿科实践中实施基因检测后，多余X和Y染色体变异的诊断有所增加。经验证据表明，诊断的交付对受影响的个人及其父母如何感知和适应诊断具有持久的影响。这篇综述的目的是综合文献，以基于越来越多的关于患者经验的定量和定性文献，为提供性染色体多体（SCM）的儿科诊断提供有用的建议。
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。
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。
