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

项目总结摘要 患有Pierre Robin序列(PRS)的儿童出生时就有小颌症(小下颌)、舌下垂(舌头) 向后推)，以及呼吸道阻塞；许多人患有腭裂。呼吸困难患者有呼吸和进食 不同程度的困难，会对他们自己和家人的生活质量产生深远的影响。 许多患有PrS的婴儿早期生活复杂而脆弱，需要进行气管切开术等手术 绕开上呼吸道阻塞、外科营养喂养管或大手术以改善其状况 头面部畸形。除了孩子的症状外，父母还经常努力管理自己的症状 对孩子精神障碍的心理社会和情绪反应。目前的QOL测量工具范围太广 并将重点放在不同的人群中，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人的相关性较小。我们在R21期间的目标是开发 并对测量儿童症状和症状的特定于PRS的QOL工具进行初步验证 家庭生活质量。具体地说，我们将从关注儿童的父母群体中开发出PR QOL项目 Prs.为实现这一目标，将与社区关系家庭开展更多的焦点小组，允许纳入 来自不同背景、年龄较大群体的患者，接受的治疗不包括在我们的 原始样品。成绩单将根据关键主题和概念进行编码。使用该语言开发的项目， 来自这些焦点小组的主题和概念将提供PRSQOL内容的有效性。项目将是 通过与PR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 研制了仪器。该工具将应用于具有代表性的PRS父母样本。这个 工具的心理测量特征将用经典项目分析和定性分析进行评估 技术，以及多余或无效的项目将被淘汰。将对生成的仪器进行测试 效度和信度。结构效度将使用来自不同年龄的PR家庭的回复来评估， 谁在PRS QOL量表上的分数将与经过验证的工具评估的分数进行比较 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，无线业务服务质量 评分将与呼吸道功能和喂养的客观指标进行比较，如多导睡眠图 报告和饲养管状态。信度将通过重测评估进行评估。由此产生的， 初步验证的QOL量表将是疾病负担的综合衡量标准，允许提供者 和临床研究人员一起衡量PRS对儿童和家庭的影响。这台新奇的仪器将 促进我们对这种疾病对家庭的影响的理解，代表着从 之前对这一弱势群体的评估。它还将促进迫切需要的未来研究。 比较了不同处理方式的效果。

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.