Patient's thoughts and expectations about centres of expertise for PKU

A. M. J. van Wegberg, A. MacDonald, D. Abeln, T. S. Hagedorn, E. Lange, F. Trefz, D. van Vliet, F. J. van Spronsen*

*Corresponding author voor dit werk

OnderzoeksoutputAcademicpeer review

4 Citaten (Scopus)
46 Downloads (Pure)


Background: 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.

Methods: 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.

Results: 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.

Conclusion: In this small study, most participants expected that assigning CEs will change the structure of and delivery of Phenylketonuria care.

Originele taal-2English
Aantal pagina's8
TijdschriftOrphanet journal of rare diseases
Nummer van het tijdschrift1
StatusPublished - 6-jan.-2021


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