Logo image
Back
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach
Journal article   Open access   Peer reviewed

Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach

Barbara K Burton, Álvaro Hermida, Amaya Bélanger-Quintana, Heather Bell, Kendra J Bjoraker, Shawn E Christ, Mitzie L Grant, Cary O Harding, Stephan C J Huijbregts, Nicola Longo, …
Molecular genetics and metabolism, v 137(1-2), pp 114-126
29 Jul 2022
DOI: https://doi.org/10.1016/j.ymgme.2022.07.012
Featured in Collection :   UN Sustainable Development Goals @ Drexel
url
https://doi.org/10.1016/j.ymgme.2022.07.012View
Published, Version of Record (VoR)CC BY-NC-ND V4.0,  Open

Abstract

BACKGROUNDEarly treated patients with phenylketonuria (PKU) often become lost to follow-up from adolescence onwards due to the historical focus of PKU care on the pediatric population and lack of programs facilitating the transition to adulthood. As a result, evidence on the management of adolescents and young adults with PKU is limited. METHODSTwo meetings were held with a multidisciplinary international panel of 25 experts in PKU and comorbidities frequently experienced by patients with PKU. Based on the outcomes of the first meeting, a set of statements were developed. During the second meeting, these statements were voted on for consensus generation (≥70% agreement), using a modified Delphi approach. RESULTSA total of 37 consensus recommendations were developed across five areas that were deemed important in the management of adolescents and young adults with PKU: (1) general physical health, (2) mental health and neurocognitive functioning, (3) blood Phe target range, (4) PKU-specific challenges, and (5) transition to adult care. The consensus recommendations reflect the personal opinions and experiences from the participating experts supported with evidence when available. Overall, clinicians managing adolescents and young adults with PKU should be aware of the wide variety of PKU-associated comorbidities, initiating screening at an early age. In addition, management of adolescents/young adults should be a joint effort between the patient, clinical center, and parents/caregivers supporting adolescents with gradually gaining independent control of their disease during the transition to adulthood. CONCLUSIONSA multidisciplinary international group of experts used a modified Delphi approach to develop a set of consensus recommendations with the aim of providing guidance and offering tools to clinics to aid with supporting adolescents and young adults with PKU.

Metrics

16 Record Views
18 citations in Web of Science
14 citations in Scopus

Details

UN Sustainable Development Goals (SDGs)

This publication has contributed to the advancement of the following goals:

#3 Good Health and Well-Being

InCites Highlights

Data related to this publication, from InCites Benchmarking & Analytics tool:

Collaboration types
Domestic collaboration
International collaboration
Web of Science research areas
Endocrinology & Metabolism
Genetics & Heredity
Medicine, Research & Experimental
Logo image