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

描述（由申请人提供）：一个孩子的出生与性发育障碍（DSD或“中间性”）可以创建一个新生儿的家庭和医疗保健专业人员的危机。关于性别分配、生殖器手术和尽量减少耻辱感的战略的决定往往是在压力下迅速做出的。对DSD患者的临床管理，主要是基于对性心理发育的生物学影响的研究，已成为有争议的。最近关于对病人的伤害的传闻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，没有衡量工具来评估这些变化对病人（或家庭）生活质量的影响。健康相关的生活质量（HRQoL）措施非常适合解决这个问题，因为它们解决了条件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经验证的父母代理报告（性发育障碍生活质量问卷，QoL-DSDQ）和父母自我报告（性发育障碍生活质量问卷-父母/照顾者，QoL-DSDQ-P/C）HRQoL问卷，重点关注患有DSD的年轻患者及其家庭特有的和共有的问题，这些问题未被通用HRQoL指标涵盖。这一目标符合NIH医学研究路线图，该路线图要求通过创建敏感且经过充分验证的HRQoL结局指标来开发改善临床结局评估的方法。研究I的目标是开发儿童（2至6岁）HRQoL的父母代理报告和儿童（新生儿至6岁）状况对父母/照顾者生活质量影响的父母自我报告措施。在一项试点研究中开发的临时问卷项目将通过对45名受影响儿童（新生儿至6岁，患有全方位DSD）的75名父母的认知访谈进行修订和完善，这些儿童是通过美国四个医疗中心确定的。研究II的目标是在人口统计学和地理分布多样化的样本中建立新工具的可靠性和有效性，该样本包括从美国12个医疗中心招募的150名受影响儿童（新生儿至6岁）的249名父母。这项研究将产生最大的，最具代表性的HRQoL数据集的儿童与DSD及其父母。未来的研究将把这种方法扩展到患有DSD的老年患者。公共卫生相关性：性发育障碍生活质量问卷的初步编制（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）确定患者和家庭需求的特定领域;（2）测量医疗和手术干预对患者/家庭功能的影响;（3）提供经验证据以指导临床管理;以及（4）解决对性发育障碍（DSD）患者的心理社会和性心理发育的理解方面的差距。QoL-DSDQ的发展还将通过在生物因素（遗传和激素）和早期发展中的社会环境经验之间建立更好的平衡，为那些出生时身体典型或患有DSD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.