急性中毒型先天性代谢错误（IT-IEM），例如尿素循环障碍和非急性IT-IEM，例如苯丙酮尿症（PKU）及其治疗对受影响儿童和家庭的生活产生重大影响。然而，患者和父母对IT-IEM负担及其对日常功能和福祉的影响的看法很少得到解决。患者和观察者报告的结果（PRO/ObsRO）对于评估和目标医疗保健和治疗效果至关重要。因此,必须定义与IT-IEM患者相关的PROs/ObsRO，他们的家人,和卫生保健专业人员，并提供有效的，标准化和可靠的测量仪器。为了达成共识，我们进行了两轮，对Delphi调查进行了基于电子的修改，其中包括27名受影响儿童的父母，9名青少年患者和35名卫生专业人员(医生，营养学家,心理学家)。最终的PRO/ObsRO集在一个由三名卫生专业人员组成的子样本的在线共识会议上进行了讨论和定义。三个父母和两个病人。对于这最后一组，组装了适当的措施(PROMs/ObsROM)。
17个PRO/ObsRO构成儿科IT-IEM的最终核心集。它们涵盖社会(如社会参与)，情绪(如积极影响)，以及患者生活中与疾病相关的方面（例如对治疗的态度）以及父母的经历（例如父母的压力）。
为了推广整体治疗方法，这一组由共识驱动的相关PRO/ObsRO应纳入日常IT-IEM护理中,并被视为临床试验中的关键心理结局.我们已经确定了现有的心理测量和上下文适当的PROM/ObsROM具有开放的访问权限，以促进这一过程。
Acute intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders and non-acute IT-IEM such as phenylketonuria (PKU) and their treatment have a major impact on the life of affected children and families. Yet patients\' and parents\' perspectives on the burdens of IT-IEM and its effects on everyday functioning and well-being have rarely been addressed. Patient- and observer-reported outcomes (
PROs/ObsROs) are critically important to evaluate and target health care and treatment efficacy. Therefore, it is mandatory to define PROs/ObsROs relevant to patients with IT-IEM, their families, and health care professionals and to provide valid, standardised and reliable measuring instruments. To achieve
consensus we performed a two-round, electronic-based modification of a Delphi survey including 27 parents of affected children, nine teenage patients and 35 health professionals (physicians, nutritionists, psychologists). The final set of
PROs/ObsROs was discussed and defined in an online
consensus meeting with a subsample of three health professionals, three parents and two patients. For this final set, appropriate measures (PROMs/ObsROMs) were assembled.
Seventeen
PROs/ObsROs constitute the final core set for paediatric IT-IEM. They cover social (e.g. social participation), emotional (e.g. positive affect), and disease-related aspects (e.g. attitude towards treatment) of patients\' lives as well as the experience of parents (e.g. parental stress).
To promote a holistic treatment approach, this
consensus-driven set of relevant
PROs/ObsROs should be incorporated into daily IT-IEM care and considered as the key psychological outcomes in clinical trials. We have identified existing-psychometrically and contextual-appropriate PROMs/ObsROMs with open access to facilitate this process.
