共济失调毛细血管扩张症 (A-T) 是一种罕见的遗传性疾病，其 DNA 修复过程出现故障，导致显着的临床表现，包括进行性神经功能衰退、恶性肿瘤风险升高、免疫缺陷、眼皮肤毛细血管扩张和严重肺部疾病。研究仅限于此类患者的生活质量，尚未完成的是对 A-T 人群中心理社会、身体和认知患者报告结果 (PRO) 进行定量分析的研究。对 90 名国际成人和儿童 A-T 患者进行的 PRO 评估他们的护理人员通过安全在线管理患者报告结果测量信息系统（PROMIS）简短表格来评估愤怒、认知、情绪、社会健康、疲劳、疼痛、焦虑和上肢功能。另外还评估了年龄、性别、种族/民族、既往恶性肿瘤诊断和当前支持性治疗干预措施对此类 PRO 的影响。最后，考虑到医疗服务提供者在 A-T 患者护理中的重要性以及患者满意度对医疗结果的影响，我们通过一项新颖的调查进一步分析了患者和护理人员如何看待他们的主要 A-T 医疗保健提供者的 A-T 专业知识、可信度、可及性、研究发现，A-T 的诊断会对患者 PRO 产生复杂的影响，但这些数据提供了预防和治疗干预措施的潜力，以改善此类患者的护理。虽然大多数 A-T 患者及其护理人员认为他们的主要 A-T 医疗提供者除了平易近人且值得信赖之外，还拥有专业知识和同情心，但很大一部分研究对象不同意他们的提供者是 A-T 领域的专家或总体上值得信赖。© 2024。作者获得 Springer Science Business Media, LLC（Springer Nature 的一部分）的独家许可。

Ataxia-telangiectasia (A-T) is a rare genetic condition with malfunctioning DNA repair processes resulting in significant clinical findings, including progressive neurologic decline, elevated malignancy risk, immunodeficiency, oculocutaneous telangiectasias, and severe pulmonary disease. Research has been limited into the quality of life of such patients and yet to be completed are studies quantitatively analyzing psychosocial, physical, and cognitive patient-reported outcomes (PROs) within the A-T population.PRO evaluations of 90 international adult and pediatric A-T patients and their caregivers were completed via secure online administration of Patient-Reported Outcomes Measurement Information System (PROMIS) short forms evaluating anger, cognition, mood, social health, fatigue, pain, anxiety, and upper extremity function. The impact of age, gender, race/ethnicity, prior malignancy diagnosis, and current supportive treatment interventions on such PROs was additionally assessed. Finally, given the importance of medical providers in the care of A-T patients and the impact of patient satisfaction on healthcare outcomes, we further analyzed, via a novel survey, how patients and caregivers perceived their primary A-T healthcare provider's A-T expertise, trustworthiness, accessibility, and level of compassion.It was found that a diagnosis of A-T complexly impacts patient PROs, but such data offers the potential for preventative and therapeutic interventions to improve the care of such patients. While most A-T patients and their caregivers feel their primary A-T medical provider has expertise and compassion in addition to being accessible and trustworthy, a significant percentage of study subjects did not agree that their provider was an expert in A-T or overall trustworthy.© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.