The following is a summary of “Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review,” published in the April 2024 issue of Pediatrics by Riggan et al.
In recent years, the identification of supernumerary X & Y chromosome variations through genetic testing has become more prevalent in pediatric practice. This diagnostic process has profound and enduring effects on affected individuals and their families, influencing their perceptions and adaptation to the diagnosis. This comprehensive review aims to distill insights from diverse quantitative and qualitative studies on patient experiences, offering valuable recommendations for diagnosing sex chromosome multisomy (SCM) in pediatric populations.
Utilizing an integrative literature review approach, researchers systematically explored databases such as PubMed, Web of Science, and CINAHL from January 1, 2000, to October 31, 2023. Keywords including “genetic diagnosis delivery,” “genetic diagnosis disclosure,” and specific SCM variations like “Klinefelter syndrome,” “Jacob syndrome,” “Trisomy X,” and “48 XXYY” were employed to gather relevant literature.
The synthesis of available evidence underscores the significance of providing comprehensive, up-to-date information and fostering connections with supportive resources for patients and their families. Addressing concerns about the diagnosis, including disclosure to the affected individual, family members, and the broader community, is crucial. Moreover, discussions on the next steps of care, involving necessary referrals and assurances of ongoing support, mitigate feelings of abandonment and enhance patient-provider rapport. Supplementary tables are included to offer informative resources, delineate relevant medical specialties for patient support, and debunk common misconceptions surrounding SCM diagnoses.
In conclusion, delivering an SCM diagnosis demands careful attention, considering its profound ethical and social ramifications. This review offers evidence-based recommendations for optimal disclosure across different developmental stages, spanning early and late childhood, adolescence, and young adulthood. By integrating these recommendations into clinical practice, healthcare providers can ensure informed decision-making and holistic support for patients and families navigating SCM diagnoses.
Source: bmcpediatr.biomedcentral.com/articles/10.1186/s12887-024-04723-0