Department of Neuropediatrics and Metabolism, Reference Center of Inherited Metabolic Disorders, Timone Enfants Hospital, Marseille, France.
Department of Epidemiology and Health Economics, AP-HM/EA 3279 CEReSS (Centre d'Etude et de Recherche sur les Services de Santé et la Qualité de vie), Aix-Marseille Univ, Marseille, France.
J Pediatr. 2020 May;220:184-192.e6. doi: 10.1016/j.jpeds.2020.01.059. Epub 2020 Mar 4.
To describe the health status of young patients affected by inborn errors of metabolism that require adherence to a restricted diet (IEMRDs) and to describe and compare their self- and proxy (parent)-reported quality of life (QoL) with reference values.
A cross-sectional study was conducted in 2015-2017 in patients affected by IEMRDs (except phenylketonuria) younger than 18 years. Data collection was based on medical records, clinical examinations, parents' and children's interviews, and self-reported questionnaires. Measurements included clinical and healthcare data, child and family environment data, and self- and proxy (parent)-reported QoL.
Of the 633 eligible participants, 578 were recruited (50.3% boys; mean age: 8.7 years); their anthropometric status did not differ from the general population. Approximately one-half of them had at least 1 complication of the disease. Their self-reported global QoL did not differ from that of the general population. However, relations with friends and leisure activities QoL domains were negatively impacted, whereas relations with medical staff, relations with parents, and self-esteem QoL domains were positively impacted. Their proxy (parent)-reported QoL was negatively impacted.
Young patients affected by IEMRDs present a high rate of clinical complications. Although their proxy (parent)-reported QoL was negatively impacted, their self-reported QoL was variably impacted (both positively and negatively). These results may inform counseling for those who care for affected patients and their families.
描述需要遵循特殊饮食的遗传性代谢缺陷疾病（IEMRD）年轻患者的健康状况，并描述和比较他们的自我报告和代理报告（父母）的生活质量（QoL）与参考值。
这是一项 2015-2017 年期间进行的横断面研究，研究对象为年龄小于 18 岁的 IEMRD 患者（除苯丙酮尿症外）。数据收集基于病历、临床检查、父母和儿童访谈以及自我报告的问卷。测量包括临床和医疗保健数据、儿童和家庭环境数据、自我报告和代理报告（父母）的 QoL。
在 633 名符合条件的参与者中，招募了 578 名（50.3%为男性；平均年龄：8.7 岁）；他们的人体测量状况与一般人群无差异。其中约有一半人患有至少一种疾病并发症。他们的自我报告全球 QoL 与一般人群无差异。然而，与朋友的关系和休闲活动 QoL 领域受到负面影响，而与医务人员的关系、与父母的关系和自尊 QoL 领域则受到正面影响。他们的代理报告（父母）的 QoL 受到负面影响。
患有遗传性代谢缺陷疾病的年轻患者存在较高的临床并发症发生率。尽管他们的代理报告（父母）的 QoL 受到负面影响，但他们的自我报告的 QoL 受到不同程度的影响（既有正面影响也有负面影响）。这些结果可能为照顾这些患者及其家庭的人提供咨询信息。
