Quality of Life in Intersexuality: A Pediatric Clinical and Research Tool

描述（由申请人提供）：一个患有性发育障碍（DSD或“中间性”）的孩子的出生可能会给新生儿的家庭和医疗保健专业人员带来危机。关于性别分配、生殖器手术和减少耻辱的策略的决定往往是在压力下迅速做出的。dsd患者的临床管理，主要基于对性心理发展的生物学影响的研究，已经成为有争议的。最近关于对患者造成伤害的轶事报告和要求立即改变护理模式的呼吁似乎正在影响实践；然而，没有测量工具来评估这些变化对患者（或家庭）生活质量的影响。与健康有关的生活质量（HRQoL）测量非常适合解决这一问题，因为它们解决了一种疾病及其治疗对个人和家庭主观经历的身体、社会和情感功能的影响。本研究的目的是开发有效的父母代理报告（性发展生活质量障碍问卷，QoL-DSDQ）和父母自我报告（性发展生活质量障碍问卷-父母/照顾者，QoL-DSDQ- p /C） HRQoL问卷，这些问卷关注的是一般HRQoL测量方法无法涵盖的年轻性发展障碍患者及其家庭特有的问题。这一目标符合美国国立卫生研究院医学研究路线图，该路线图呼吁通过创建敏感且经过良好验证的HRQoL结果测量来开发改进临床结果评估的方法。研究1的目的是开发儿童（2至6岁）HRQoL的家长代理报告和儿童（新生儿至6岁）状况对父母/照顾者生活质量影响的家长自我报告测量。在试点研究中制定的临时问卷项目将通过对美国四个医疗中心确定的45名受影响儿童（新生儿至6岁，所有DSD）的75名父母的认知访谈进行修订和完善。研究II的目标是在人口统计学和地理上不同的样本中建立新工具的可靠性和有效性，该样本包括来自美国12个医疗中心的150名受影响儿童（新生儿至6岁）的249名父母。本研究将产生最大、最具代表性的dsd患儿及其父母HRQoL数据集。未来的研究将把这种方法扩展到老年dsd患者。公共卫生相关性：制定生活质量性发展障碍问卷（QoL-DSDQ；父母/照顾者代理和自我报告版本）将使临床医生能够：(1)确定患者和家庭需要的特定领域；(2)测量医疗和外科干预对患者/家庭功能的影响；(3)为临床管理提供经验依据；(4)解决对性发展障碍（DSD）患者的社会心理和性心理发展的理解差距。通过在早期发育的生物因素（遗传和激素）和社会环境经验之间建立更好的平衡，生活质量指数- DSDQ的发展也将为那些天生身体典型或患有DSDQ的人的典型和非典型性别发展理论提供信息，这些因素共同塑造了人类行为中性别差异的发展。

DESCRIPTION (provided by applicant): The birth of a child with a Disorder of Sex Development (DSD or "intersexuality") can create a crisis for the newborn's family and healthcare professionals. Decisions about gender assignment, genital surgeries, and strategies to minimize stigma often are made quickly and under pressure. Clinical management of patients with DSDs, based primarily on studies of biological influences on psychosexual development, has become controversial. Recent anecdotal reports of harm to patients and calls for immediate changes in the model of care appear to be influencing practice; however, there are no measurement tools to evaluate the effects of these changes on patients' (or families') quality of life. Health-related quality of life (HRQoL) measures are well-suited to address this problem because they address the effects of a condition and its treatment on subjectively-experienced physical, social, and emotional functioning of the individual and family. The objective of this study is to develop validated parent-proxy report (Quality of Life Disorders of Sex Development Questionnaire, QoL-DSDQ) and parent self-report (Quality of Life Disorders of Sex Development Questionnaire-Parent/Caregiver, QoL-DSDQ-P/C) HRQoL questionnaires that focus on issues specific to, and shared by young patients with DSDs and their families, which are not otherwise covered by generic HRQoL measures. This objective fits with the NIH Roadmap for Medical Research that calls for developing methods to improve clinical outcomes assessment through creating sensitive and well-validated HRQoL outcome measures. The goal of Study I is to develop a parent proxy-report of the child's (ages 2 to 6 years) HRQoL and a parent self-report measure of the impact of the child's (newborn to 6 years) condition on parent/caregiver quality of life. Provisional questionnaire items, developed in a pilot study, will be revised and refined through cognitive interviews with 75 parents of 45 affected children (newborn to 6 years with the full range of DSD) identified through four US medical centers. The goal of Study II is to establish the reliability and validity of the new instruments in a demographically and geographically diverse sample comprising 249 parents of 150 affected children (newborn to 6 years) recruited from 12 medical centers across the US. This study will yield the largest, most representative HRQoL dataset on children with DSDs and their parents. Future research will extend this methodology to older patients with DSDs. PUBLIC HEALTH RELEVANCE: Development of the Quality of Life-Disorders of Sex Development Questionnaire (QoL-DSDQ; parent/caregiver proxy and self-report versions) will enable clinicians to: (1) identify specific areas of patient and family need; (2) measure the effects of medical and surgical interventions on patient/family functioning; (3) provide empirical evidence to guide clinical management; and (4) address gaps in understanding of the psychosocial and psychosexual development in patients with disorders of sex development (DSD). Development of the QoL- DSDQ will also inform theories of typical and atypical gender development among those born physically typical or with a DSD by establishing a better balance between biological factors (genetic and hormonal) and social- environmental experiences in early development which, together, shape the development of sex differences in human behavior.