Development and Validation of a Pierre Robin Sequence Quality of Life Instrument

项目摘要 患有皮埃尔·罗宾序列（PRS）的儿童出生时患有小颌症（小颌）、舌下垂（舌 ，许多人都有着不好的预感，也有着不好的预感。PRS患者有呼吸和进食 不同程度的困难，这可能会深刻地影响他们自己和他们的家人的生活质量（QoL）。 许多患有PRS的婴儿早期生活复杂而脆弱，需要进行气管造口术等手术， 旁路上呼吸道阻塞，手术营养管，或大手术，以改善他们的 颅面异常除了孩子的症状，父母往往很难管理自己的 心理社会和情感上的反应。目前的生活质量工具范围太广 并侧重于不同的人群，以充分衡量这一人群的生活质量。这不仅限制了 了解这些患者的整体疾病负担，它限制了比较有效性研究， 结果可能与患者和家属不太相关。我们在R21期间的目标是开发 并对PRS特异性QoL工具进行初步验证， 家庭QOL具体而言，我们将从儿童父母的焦点小组中制定PRS QoL项目， PRS。为达到这个目的，我们会举办更多与“生产者责任计划”家庭有关的焦点小组讨论会，以便把 来自不同背景的患者，年龄较大的患者，以及未纳入我们研究的治疗。 原单成绩单将编码的关键主题和概念。使用该语言开发的项目， 这些焦点小组的主题和概念将提供PRS QoL内容效度。物品将 通过与PRS家庭的认知访谈进行评估，并反复修订和重新测试，直到初步 仪器开发。将对PRS父母的代表性样本使用该工具。的 工具的心理测量学特征将采用经典的项目分析和定性的方法进行评估。 技术，多余或无效的项目将被淘汰。将对由此产生的仪器进行测试， 效度和信度。结构效度将使用不同年龄的PRS家庭的回答进行评估， 将其在PRS QoL工具上的评分与经验证工具上的评分进行比较， 一般生活质量、睡眠呼吸暂停的影响以及儿童疾病对家庭的影响。此外，PRS QoL 将评分与气道功能和进食的客观测量进行比较，如多导睡眠图 报告和饲管状态。将通过重测评估来评估可靠性。结果， 初步验证的QoL工具将是疾病负担的综合衡量标准， 和临床研究人员来衡量PRS对儿童和家庭的影响。这一新工具将 推进我们对这种疾病对家庭影响的理解，这代表着从 在这个脆弱的人群中进行了评估。它还将促进未来迫切需要的研究 比较PRS治疗。

PROJECT SUMMARY ABSTRACT Children with Pierre Robin Sequence (PRS) are born with micrognathia (small jaw), glossoptosis (tongue pushed back), and airway obstruction; many have cleft palates. PRS patients have breathing and feeding difficulties of varying degrees, which can profoundly affect their own and their families’ quality of life (QoL). Many infants with PRS have complicated and tenuous early lives requiring surgeries such as tracheostomy to bypass upper airway obstruction, surgical feeding tubes for nutrition, or major surgeries to improve their craniofacial anomaly. In addition to the child’s symptoms, parents often struggle to manage their own psychosocial and emotional response to their child’s disorder. Current QoL instruments are too broad in scope and focused on different populations to adequately measure QoL in this population. This not only limits understanding of these patients’ holistic disease burden, it constrains comparative effectiveness studies to outcomes that may be less relevant to patients and families. Our objective during the R21 period is to develop and perform preliminary validation of a PRS-specific QoL instrument measuring both child symptoms and family QoL. Specifically, we will develop PRS QoL items from from focus groups with parents of children with PRS. To achieve this, additional focus groups with PRS families will be conducted, allowing the inclusion of patients from different backgrounds, older age groups, and with treatments that were not included in our original sample. Transcripts will be coded for key themes and concepts. Items developed using the language, themes, and concepts from these focus groups will provide the PRS QoL content validity. Items will be evaluated through cognitive interviews with PRS families and iteratively revised and retested until a preliminary instrument is developed. This instrument will be administered to a representative sample of PRS parents. The instrument’s psychometric characteristics will be assessed with classic item analysis and qualitative techniques, and redundant or ineffective items will be eliminated. The resulting instrument will be tested for validity and reliability. Construct validity will be assessed using responses from PRS families with varying ages, whose scores on the PRS QoL instrument will be compared with scores on validated instruments assessing general QoL, the impact of sleep apnea, and the impact of children’s illness on families. Additionally, PRS QoL scores will be compared with objective measures of airway function and feeding, such as polysomnography reports and feeding tube status. Reliability will be assessed through test-retest assessment. The resulting, preliminarily validated QoL instrument will be a comprehensive measure of disease burden allowing providers and clinical researchers to measure the impact of PRS on children and families. This novel instrument will advance our understanding of the impact this disorder has on families, representing a substantial shift from previous assessments in this vulnerable population. It will also facilitate critically needed future studies comparing PRS treatments.