Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, 9713 GZ, Groningen, The Netherlands.
Dietetic Department, Birmingham Children's Hospital, Birmingham, B4 6NH, UK.
Orphanet J Rare Dis. 2021 Jan 6;16(1):2. doi: 10.1186/s13023-020-01647-7.
In the Netherlands (NL) the government assigned 2 hospitals as centres of expertise (CE) for Phenylketonuria (PKU), while in the United Kingdom (UK) and Germany no centres are assigned specifically as PKU CE's.
To identify expectations of patients/caregivers with PKU of CEs, a web-based survey was distributed through the national Phenylketonuria societies of Germany, NL and UK.
In total, 105 responded (43 patients, 56 parents, 4 grandparents, 2 other) of whom 59 were from NL, 33 from UK and 13 from Germany. All participants (n = 105) agreed that patients and/or practitioners would benefit from CEs. The frequency patients would want to visit a CE, when not treated in a CE (n = 83) varied: every hospital visit (24%, n = 20), annual or bi-annual (45%, n = 37), at defined patient ages (6%, n = 5), one visit only (22%, n = 18), or never (4%, n = 3). Distance was reported as a major barrier (42%, n = 35). 78% (n = 65) expected CE physicians and dieticians to have a higher level of knowledge than in non-CE centres. For participants already treated in a CE (n = 68), 66% requested a more extensive annual or bi-annual review. In general, psychology review and neuropsychologist assessment were identified as necessary by approximately half of the 105 participants. In addition, 66% (n = 68) expected a strong collaboration with patient associations.
In this small study, most participants expected that assigning CEs will change the structure of and delivery of Phenylketonuria care.
在荷兰（NL），政府指定了 2 家医院作为苯丙酮尿症（PKU）的专业中心（CE），而在英国（UK）和德国则没有专门指定的 PKU CE。
为了确定 PKU 患者/照顾者对 CE 的期望，通过德国、NL 和 UK 的国家苯丙酮尿症协会在网上进行了一项调查。
共有 105 人（43 名患者、56 名家长、4 名祖父母、2 名其他）回复，其中 59 人来自 NL，33 人来自 UK，13 人来自德国。所有参与者（n=105）都同意患者和/或医生将从 CE 中受益。当不在 CE 治疗时，患者希望访问 CE 的频率不同（n=83）：每次就诊（24%，n=20）、每年或每两年一次（45%，n=37）、在特定患者年龄（6%，n=5）、仅一次就诊（22%，n=18）或从不（4%，n=3）。距离被报告为一个主要障碍（42%，n=35）。78%（n=65）的人期望 CE 医生和营养师比非 CE 中心具有更高的知识水平。对于已经在 CE 治疗的参与者（n=68），66%的人要求更广泛的年度或每两年一次的复查。总的来说，大约一半的 105 名参与者认为需要进行心理学审查和神经心理学家评估。此外，66%（n=68）的人期望与患者协会建立强有力的合作关系。
在这项小型研究中，大多数参与者期望指定 CE 将改变 PKU 护理的结构和提供方式。
