Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY.

IF 1.5 Q4 GENETICS & HEREDITY
Journal of Community Genetics Pub Date : 2024-02-01 Epub Date: 2023-10-21 DOI:10.1007/s12687-023-00682-8
Nivedita Ahlawat, Kathryn Elliott, Kelly E Ormond, Megan A Allyse, Kirsten A Riggan
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引用次数: 0

Abstract

Sex chromosome aneuploidies (SCAs) are among the most common chromosomal conditions. There is little scholarship on how adolescents and young adults (AYAs) affected by SCA engage with and adapt to their diagnosis. In order to understand how AYAs adapt to a SCA diagnosis, we conducted a secondary analysis of qualitative interviews with AYAs. Eight in-depth semi-structured interviews with individuals with a diagnosis of 47,XXY, 47,XXX, and 48,XXYY were analyzed for iterative themes related to adaptation to a SCA diagnosis in accordance with standard qualitative methodology. Our findings suggest that the process of adaptation is highly variable and complex and is mediated by external factors including diagnosis delivery and community support. Factors associated with adaptation include feeling understood and supported by healthcare providers; researching the condition; receiving hormone replacement therapy; and receiving support from a community of peers. As access to prenatal and pediatric genetic testing continues to expand, non-genetic pediatric providers are increasingly likely to interact with individuals with SCAs as part of their initial diagnostic odyssey or ongoing medical management. Understanding the diversity of lived experiences of AYAs with SCAs is helpful for healthcare providers to facilitate holistic care and provide meaningful support to patients.

诊断为47,XXY,47,XXX和48,XXYY的青少年和年轻人的医疗保健和支持经历。
性染色体非整倍体(SCAs)是最常见的染色体疾病之一。关于受SCA影响的青少年和年轻人(AYA)如何参与和适应他们的诊断,几乎没有学术研究。为了了解AYA如何适应SCA诊断,我们对AYA进行了定性访谈的二次分析。根据标准定性方法,对诊断为47,XXY,47,XXX和48,XXYY的个体进行了八次深入的半结构化访谈,以分析与适应SCA诊断相关的迭代主题。我们的研究结果表明,适应过程是高度可变和复杂的,由外部因素介导,包括诊断提供和社区支持。与适应相关的因素包括感觉得到医疗保健提供者的理解和支持;研究条件;接受激素替代疗法;以及接受来自同行社区的支持。随着产前和儿科基因检测的机会不断扩大,非基因儿科提供者越来越有可能与SCAs患者互动,作为他们最初诊断之旅或持续医疗管理的一部分。了解患有SCAs的AYA的生活经历的多样性有助于医疗保健提供者促进整体护理并为患者提供有意义的支持。
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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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