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

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Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach. / Burton, Barbara K; Hermida, Álvaro; Bélanger-Quintana, Amaya; Bell, Heather; Bjoraker, Kendra J; Christ, Shawn E; Grant, Mitzie L; Harding, Cary O; Huijbregts, Stephan C J; Longo, Nicola; McNutt, Markey C; Nguyen-Driver, Mina D; Santos Pessoa, André L; Rocha, Júlio César; Sacharow, Stephanie; Sanchez-Valle, Amarilis; Sivri, H Serap; Vockley, Jerry; Walterfang, Mark; Whittle, Sarah; Muntau, Ania C.

In: MOL GENET METAB, Vol. 137, No. 1-2, 27.08.2022, p. 114-126.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Burton, BK, Hermida, Á, Bélanger-Quintana, A, Bell, H, Bjoraker, KJ, Christ, SE, Grant, ML, Harding, CO, Huijbregts, SCJ, Longo, N, McNutt, MC, Nguyen-Driver, MD, Santos Pessoa, AL, Rocha, JC, Sacharow, S, Sanchez-Valle, A, Sivri, HS, Vockley, J, Walterfang, M, Whittle, S & Muntau, AC 2022, 'Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach', MOL GENET METAB, vol. 137, no. 1-2, pp. 114-126. https://doi.org/10.1016/j.ymgme.2022.07.012

APA

Burton, B. K., Hermida, Á., Bélanger-Quintana, A., Bell, H., Bjoraker, K. J., Christ, S. E., Grant, M. L., Harding, C. O., Huijbregts, S. C. J., Longo, N., McNutt, M. C., Nguyen-Driver, M. D., Santos Pessoa, A. L., Rocha, J. C., Sacharow, S., Sanchez-Valle, A., Sivri, H. S., Vockley, J., Walterfang, M., ... Muntau, A. C. (2022). Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach. MOL GENET METAB, 137(1-2), 114-126. https://doi.org/10.1016/j.ymgme.2022.07.012

Vancouver

Burton BK, Hermida Á, Bélanger-Quintana A, Bell H, Bjoraker KJ, Christ SE et al. Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach. MOL GENET METAB. 2022 Aug 27;137(1-2):114-126. https://doi.org/10.1016/j.ymgme.2022.07.012

Bibtex

@article{d9c4f3a5718c450584858b11c67090ed,
title = "Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach",
abstract = "BACKGROUND: Early 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.METHODS: Two 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.RESULTS: A 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.CONCLUSIONS: A 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.",
author = "Burton, {Barbara K} and {\'A}lvaro Hermida and Amaya B{\'e}langer-Quintana and Heather Bell and Bjoraker, {Kendra J} and Christ, {Shawn E} and Grant, {Mitzie L} and Harding, {Cary O} and Huijbregts, {Stephan C J} and Nicola Longo and McNutt, {Markey C} and Nguyen-Driver, {Mina D} and {Santos Pessoa}, {Andr{\'e} L} and Rocha, {J{\'u}lio C{\'e}sar} and Stephanie Sacharow and Amarilis Sanchez-Valle and Sivri, {H Serap} and Jerry Vockley and Mark Walterfang and Sarah Whittle and Muntau, {Ania C}",
note = "Copyright {\textcopyright} 2022 The Authors. Published by Elsevier Inc. All rights reserved.",
year = "2022",
month = aug,
day = "27",
doi = "10.1016/j.ymgme.2022.07.012",
language = "English",
volume = "137",
pages = "114--126",
journal = "MOL GENET METAB",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "1-2",

}

RIS

TY - JOUR

T1 - Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach

AU - Burton, Barbara K

AU - Hermida, Álvaro

AU - Bélanger-Quintana, Amaya

AU - Bell, Heather

AU - Bjoraker, Kendra J

AU - Christ, Shawn E

AU - Grant, Mitzie L

AU - Harding, Cary O

AU - Huijbregts, Stephan C J

AU - Longo, Nicola

AU - McNutt, Markey C

AU - Nguyen-Driver, Mina D

AU - Santos Pessoa, André L

AU - Rocha, Júlio César

AU - Sacharow, Stephanie

AU - Sanchez-Valle, Amarilis

AU - Sivri, H Serap

AU - Vockley, Jerry

AU - Walterfang, Mark

AU - Whittle, Sarah

AU - Muntau, Ania C

N1 - Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.

PY - 2022/8/27

Y1 - 2022/8/27

N2 - BACKGROUND: Early 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.METHODS: Two 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.RESULTS: A 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.CONCLUSIONS: A 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.

AB - BACKGROUND: Early 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.METHODS: Two 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.RESULTS: A 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.CONCLUSIONS: A 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.

U2 - 10.1016/j.ymgme.2022.07.012

DO - 10.1016/j.ymgme.2022.07.012

M3 - SCORING: Journal article

C2 - 36027720

VL - 137

SP - 114

EP - 126

JO - MOL GENET METAB

JF - MOL GENET METAB

SN - 1096-7192

IS - 1-2

ER -