Literature DB >> 33407655

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

A M J van Wegberg1, A MacDonald2, D Abeln3, T S Hagedorn4, E Lange5, F Trefz6, D van Vliet1, F J van Spronsen7.   

Abstract

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.

Entities:  

Keywords:  Centre of expertise; European reference network; Patients view; Phenylketonuria

Mesh:

Year:  2021        PMID: 33407655      PMCID: PMC7789756          DOI: 10.1186/s13023-020-01647-7

Source DB:  PubMed          Journal:  Orphanet J Rare Dis        ISSN: 1750-1172            Impact factor:   4.123


  20 in total

Review 1.  Key European guidelines for the diagnosis and management of patients with phenylketonuria.

Authors:  Francjan J van Spronsen; Annemiek Mj van Wegberg; Kirsten Ahring; Amaya Bélanger-Quintana; Nenad Blau; Annet M Bosch; Alberto Burlina; Jaime Campistol; Francois Feillet; Maria Giżewska; Stephan C Huijbregts; Shauna Kearney; Vincenzo Leuzzi; Francois Maillot; Ania C Muntau; Fritz K Trefz; Margreet van Rijn; John H Walter; Anita MacDonald
Journal:  Lancet Diabetes Endocrinol       Date:  2017-01-10       Impact factor: 32.069

2.  Cerebral glucose metabolism in adults with early treated classic phenylketonuria.

Authors:  M P Wasserstein; S E Snyderman; C Sansaricq; M S Buchsbaum
Journal:  Mol Genet Metab       Date:  2005-12-15       Impact factor: 4.797

3.  Practical aspects of recruitment and retention in clinical trials of rare genetic diseases: the phenylketonuria (PKU) experience.

Authors:  Stephanie J DeWard; Ashley Wilson; Heather Bausell; Ashley S Volz; Kimberly Mooney
Journal:  J Genet Couns       Date:  2013-09-08       Impact factor: 2.537

4.  Neurocognitive evidence for revision of treatment targets and guidelines for phenylketonuria.

Authors:  Rianne Jahja; Stephan C J Huijbregts; Leo M J de Sonneville; Jaap J van der Meere; Francjan J van Spronsen
Journal:  J Pediatr       Date:  2014-01-30       Impact factor: 4.406

5.  Optimal management of phenylketonuria: a centralized expert team is more successful than a decentralized model of care.

Authors:  Carol S Camfield; Marissa Joseph; Teresa Hurley; Karen Campbell; Susan Sanderson; Peter R Camfield
Journal:  J Pediatr       Date:  2004-07       Impact factor: 4.406

6.  Melatonin and dopamine as biomarkers to optimize treatment in phenylketonuria: effects of tryptophan and tyrosine supplementation.

Authors:  Shoji Yano; Kathryn Moseley; Colleen Azen
Journal:  J Pediatr       Date:  2014-05-22       Impact factor: 4.406

7.  Feasibility of a web-based neurocognitive battery for assessing cognitive function in critical illness survivors.

Authors:  Kimia Honarmand; Sabhyata Malik; Conor Wild; Laura E Gonzalez-Lara; Christopher W McIntyre; Adrian M Owen; Marat Slessarev
Journal:  PLoS One       Date:  2019-04-12       Impact factor: 3.240

8.  Acceptability, benefits, and challenges of video consulting: a qualitative study in primary care.

Authors:  Eddie Donaghy; Helen Atherton; Victoria Hammersley; Hannah McNeilly; Annemieke Bikker; Lucy Robbins; John Campbell; Brian McKinstry
Journal:  Br J Gen Pract       Date:  2019-08-29       Impact factor: 5.386

9.  Requirements for a minimum standard of care for phenylketonuria: the patients' perspective.

Authors:  Tobias S Hagedorn; Paul van Berkel; Gregor Hammerschmidt; Markéta Lhotáková; Rosalia Pasqual Saludes
Journal:  Orphanet J Rare Dis       Date:  2013-12-17       Impact factor: 4.123

10.  Living with Phenylketonuria: Lessons from the PKU community.

Authors:  Suzanne Ford; Mike O'Driscoll; Anita MacDonald
Journal:  Mol Genet Metab Rep       Date:  2018-10-18
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