Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome

Erik Boot; Sólveig Óskarsdóttir; Joanne C.Y. Loo; Terrence Blaine Crowley; Ani Orchanian-Cheff; Danielle M. Andrade; Jill M. Arganbright; René M. Castelein; Christine Cserti-Gazdewich; Steven de Reuver; Ania M. Fiksinski; Gunilla Klingberg; Anthony E. Lang; Maria R. Mascarenhas; Edward M. Moss; Beata Anna Nowakowska; Erwin Oechslin; Lisa Palmer; Gabriela M. Repetto; Nikolai Gil D. Reyes; Maude Schneider; Candice Silversides; Kathleen E. Sullivan; Ann Swillen; Therese A.M.J. van Amelsvoort; Jason P. Van Batavia; Claudia Vingerhoets; Donna M. McDonald-McGinn; Anne S. Bassett

doi:10.1016/j.gim.2022.11.012

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome

Erik Boot^*, Sólveig Óskarsdóttir^*, Joanne C.Y. Loo, Terrence Blaine Crowley, Ani Orchanian-Cheff, Danielle M. Andrade, Jill M. Arganbright, René M. Castelein, Christine Cserti-Gazdewich, Steven de Reuver, Ania M. Fiksinski, Gunilla Klingberg, Anthony E. Lang, Maria R. Mascarenhas, Edward M. Moss, Beata Anna Nowakowska, Erwin Oechslin, Lisa Palmer, Gabriela M. Repetto, Nikolai Gil D. ReyesMaude Schneider, Candice Silversides, Kathleen E. Sullivan, Ann Swillen, Therese A.M.J. van Amelsvoort, Jason P. Van Batavia, Claudia Vingerhoets, Donna M. McDonald-McGinn^*, Anne S. Bassett^*

^*Corresponding author for this work

Research output: Contribution to journal › (Systematic) Review article › peer-review

Abstract

This review aimed to update the clinical practice guidelines for managing adults with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society recruited expert clinicians worldwide to revise the original clinical practice guidelines for adults in a stepwise process according to best practices: (1) a systematic literature search (1992-2021), (2) study selection and synthesis by clinical experts from 8 countries, covering 24 subspecialties, and (3) formulation of consensus recommendations based on the literature and further shaped by patient advocate survey results. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text review, with 2318 meeting inclusion criteria (clinical care relevance to 22q11.2DS) including 894 with potential relevance to adults. The evidence base remains limited. Thus multidisciplinary recommendations represent statements of current best practice for this evolving field, informed by the available literature. These recommendations provide guidance for the recognition, evaluation, surveillance, and management of the many emerging and chronic 22q11.2DS-associated multisystem morbidities relevant to adults. The recommendations also address key genetic counseling and psychosocial considerations for the increasing numbers of adults with this complex condition.

Original language	English
Article number	100344
Number of pages	19
Journal	Genetics in Medicine
Volume	25
Issue number	3
DOIs	https://doi.org/10.1016/j.gim.2022.11.012
Publication status	Published - 1 Mar 2023

Keywords

Adults
Aging
Clinical practice guidelines
DiGeorge syndrome
Treatment

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Boot, E., Óskarsdóttir, S., Loo, J. C. Y., Crowley, T. B., Orchanian-Cheff, A., Andrade, D. M., Arganbright, J. M., Castelein, R. M., Cserti-Gazdewich, C., de Reuver, S., Fiksinski, A. M., Klingberg, G., Lang, A. E., Mascarenhas, M. R., Moss, E. M., Nowakowska, B. A., Oechslin, E., Palmer, L., Repetto, G. M., ... Bassett, A. S. (2023). Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genetics in Medicine, 25(3), Article 100344. https://doi.org/10.1016/j.gim.2022.11.012

@article{7d4dd6236fb7488d9c00591f3001dbd3,

title = "Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome",

abstract = "This review aimed to update the clinical practice guidelines for managing adults with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society recruited expert clinicians worldwide to revise the original clinical practice guidelines for adults in a stepwise process according to best practices: (1) a systematic literature search (1992-2021), (2) study selection and synthesis by clinical experts from 8 countries, covering 24 subspecialties, and (3) formulation of consensus recommendations based on the literature and further shaped by patient advocate survey results. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text review, with 2318 meeting inclusion criteria (clinical care relevance to 22q11.2DS) including 894 with potential relevance to adults. The evidence base remains limited. Thus multidisciplinary recommendations represent statements of current best practice for this evolving field, informed by the available literature. These recommendations provide guidance for the recognition, evaluation, surveillance, and management of the many emerging and chronic 22q11.2DS-associated multisystem morbidities relevant to adults. The recommendations also address key genetic counseling and psychosocial considerations for the increasing numbers of adults with this complex condition.",

keywords = "Adults, Aging, Clinical practice guidelines, DiGeorge syndrome, Treatment",

author = "Erik Boot and S{\'o}lveig {\'O}skarsd{\'o}ttir and Loo, {Joanne C.Y.} and Crowley, {Terrence Blaine} and Ani Orchanian-Cheff and Andrade, {Danielle M.} and Arganbright, {Jill M.} and Castelein, {Ren{\'e} M.} and Christine Cserti-Gazdewich and {de Reuver}, Steven and Fiksinski, {Ania M.} and Gunilla Klingberg and Lang, {Anthony E.} and Mascarenhas, {Maria R.} and Moss, {Edward M.} and Nowakowska, {Beata Anna} and Erwin Oechslin and Lisa Palmer and Repetto, {Gabriela M.} and Reyes, {Nikolai Gil D.} and Maude Schneider and Candice Silversides and Sullivan, {Kathleen E.} and Ann Swillen and {van Amelsvoort}, {Therese A.M.J.} and {Van Batavia}, {Jason P.} and Claudia Vingerhoets and McDonald-McGinn, {Donna M.} and Bassett, {Anne S.}",

note = "Funding Information: The authors acknowledge the support and endorsement provided by The 22q11.2 Society (http://www.22qsociety.org) for this work, and inspiration from patients with 22q11.2DS, and their caregivers and clinicians. A.S.B. holds the Dalglish Chair in 22q11.2 Deletion Syndrome at the University Health Network and University of Toronto. No funding was received for this work. Conceptualization: E.B. A.S.B. D.M.M.-M. S.{\'O}.; Data Curation: E.B. D.M.A. J.M.A. R.M.C. T.B.C. C.C.-G. S.d.R. A.M.F. G.K. A.E.L. J.C.Y.L. M.R.M. E.M.M. B.A.N. E.O. A.O.-C. S.{\'O}. L.P. G.M.R. N.G.D.R. M.S. C.S. K.E.S. A.S. T.A.M.J.v.A. J.P.V.B. C.V. D.M.M.-M. A.S.B.; Formal Analysis: E.B. S.{\'O}. D.M.M.-M. A.S.B.; Investigation: E.B. S.{\'O}. D.M.M.-M. A.S.B.; Methodology: E.B. S.{\'O}. D.M.M.-M. A.S.B.; Project Administration: E.B. S.{\'O}. D.M.M.-M. A.S.B.; Resources: E.B. A.S.B. D.M.M.-M. S.{\'O}. J.C.Y.L. T.B.C. A.O.-C.; Supervision: E.B. S.{\'O}. D.M.M.-M. A.S.B.; Validation: E.B. A.S.B. D.M.M.-M. S.{\'O}.; Visualization: E.B. S.{\'O}. T.B.C. D.M.M.-M. A.S.B.; Writing-original draft: E.B. A.S.B. D.M.M.-M. S.{\'O}. D.M.A. J.M.A. R.M.C. C.C.-G. S.d.R. A.M.F. G.K. A.E.L. M.R.M. E.M.M. B.A.N. E.O. A.O.-C. L.P. G.M.R. N.G.D.R. M.S. C.S. K.E.S. A.S. T.A.M.J.v.A. J.P.V.B. C.V.; Writing-review and editing: E.B. A.S.B. D.M.M.-M. S.{\'O}. T.B.C. D.M.A. J.M.A. R.M.C. C.C.-G. S.d.R. A.M.F. G.K. A.E.L. J.C.Y.L. M.R.M. E.M.M. B.A.N. E.O. A.O.-C. L.P. G.M.R. N.G.D.R. M.S. C.S. K.E.S. A.S. T.A.M.J.v.A. J.P.V.B. C.V. Publisher Copyright: {\textcopyright} 2023 The Authors",

year = "2023",

month = mar,

day = "1",

doi = "10.1016/j.gim.2022.11.012",

language = "English",

volume = "25",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Nature Publishing Group",

number = "3",

}

Boot, E, Óskarsdóttir, S, Loo, JCY, Crowley, TB, Orchanian-Cheff, A, Andrade, DM, Arganbright, JM, Castelein, RM, Cserti-Gazdewich, C, de Reuver, S, Fiksinski, AM, Klingberg, G, Lang, AE, Mascarenhas, MR, Moss, EM, Nowakowska, BA, Oechslin, E, Palmer, L, Repetto, GM, Reyes, NGD, Schneider, M, Silversides, C, Sullivan, KE, Swillen, A, van Amelsvoort, TAMJ, Van Batavia, JP, Vingerhoets, C, McDonald-McGinn, DM & Bassett, AS 2023, 'Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome', Genetics in Medicine, vol. 25, no. 3, 100344. https://doi.org/10.1016/j.gim.2022.11.012

TY - JOUR

T1 - Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome

AU - Boot, Erik

AU - Óskarsdóttir, Sólveig

AU - Loo, Joanne C.Y.

AU - Crowley, Terrence Blaine

AU - Orchanian-Cheff, Ani

AU - Andrade, Danielle M.

AU - Arganbright, Jill M.

AU - Castelein, René M.

AU - Cserti-Gazdewich, Christine

AU - de Reuver, Steven

AU - Fiksinski, Ania M.

AU - Klingberg, Gunilla

AU - Lang, Anthony E.

AU - Mascarenhas, Maria R.

AU - Moss, Edward M.

AU - Nowakowska, Beata Anna

AU - Oechslin, Erwin

AU - Palmer, Lisa

AU - Repetto, Gabriela M.

AU - Reyes, Nikolai Gil D.

AU - Schneider, Maude

AU - Silversides, Candice

AU - Sullivan, Kathleen E.

AU - Swillen, Ann

AU - van Amelsvoort, Therese A.M.J.

AU - Van Batavia, Jason P.

AU - Vingerhoets, Claudia

AU - McDonald-McGinn, Donna M.

AU - Bassett, Anne S.

N1 - Funding Information: The authors acknowledge the support and endorsement provided by The 22q11.2 Society (http://www.22qsociety.org) for this work, and inspiration from patients with 22q11.2DS, and their caregivers and clinicians. A.S.B. holds the Dalglish Chair in 22q11.2 Deletion Syndrome at the University Health Network and University of Toronto. No funding was received for this work. Conceptualization: E.B. A.S.B. D.M.M.-M. S.Ó.; Data Curation: E.B. D.M.A. J.M.A. R.M.C. T.B.C. C.C.-G. S.d.R. A.M.F. G.K. A.E.L. J.C.Y.L. M.R.M. E.M.M. B.A.N. E.O. A.O.-C. S.Ó. L.P. G.M.R. N.G.D.R. M.S. C.S. K.E.S. A.S. T.A.M.J.v.A. J.P.V.B. C.V. D.M.M.-M. A.S.B.; Formal Analysis: E.B. S.Ó. D.M.M.-M. A.S.B.; Investigation: E.B. S.Ó. D.M.M.-M. A.S.B.; Methodology: E.B. S.Ó. D.M.M.-M. A.S.B.; Project Administration: E.B. S.Ó. D.M.M.-M. A.S.B.; Resources: E.B. A.S.B. D.M.M.-M. S.Ó. J.C.Y.L. T.B.C. A.O.-C.; Supervision: E.B. S.Ó. D.M.M.-M. A.S.B.; Validation: E.B. A.S.B. D.M.M.-M. S.Ó.; Visualization: E.B. S.Ó. T.B.C. D.M.M.-M. A.S.B.; Writing-original draft: E.B. A.S.B. D.M.M.-M. S.Ó. D.M.A. J.M.A. R.M.C. C.C.-G. S.d.R. A.M.F. G.K. A.E.L. M.R.M. E.M.M. B.A.N. E.O. A.O.-C. L.P. G.M.R. N.G.D.R. M.S. C.S. K.E.S. A.S. T.A.M.J.v.A. J.P.V.B. C.V.; Writing-review and editing: E.B. A.S.B. D.M.M.-M. S.Ó. T.B.C. D.M.A. J.M.A. R.M.C. C.C.-G. S.d.R. A.M.F. G.K. A.E.L. J.C.Y.L. M.R.M. E.M.M. B.A.N. E.O. A.O.-C. L.P. G.M.R. N.G.D.R. M.S. C.S. K.E.S. A.S. T.A.M.J.v.A. J.P.V.B. C.V. Publisher Copyright: © 2023 The Authors

PY - 2023/3/1

Y1 - 2023/3/1

N2 - This review aimed to update the clinical practice guidelines for managing adults with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society recruited expert clinicians worldwide to revise the original clinical practice guidelines for adults in a stepwise process according to best practices: (1) a systematic literature search (1992-2021), (2) study selection and synthesis by clinical experts from 8 countries, covering 24 subspecialties, and (3) formulation of consensus recommendations based on the literature and further shaped by patient advocate survey results. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text review, with 2318 meeting inclusion criteria (clinical care relevance to 22q11.2DS) including 894 with potential relevance to adults. The evidence base remains limited. Thus multidisciplinary recommendations represent statements of current best practice for this evolving field, informed by the available literature. These recommendations provide guidance for the recognition, evaluation, surveillance, and management of the many emerging and chronic 22q11.2DS-associated multisystem morbidities relevant to adults. The recommendations also address key genetic counseling and psychosocial considerations for the increasing numbers of adults with this complex condition.

AB - This review aimed to update the clinical practice guidelines for managing adults with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society recruited expert clinicians worldwide to revise the original clinical practice guidelines for adults in a stepwise process according to best practices: (1) a systematic literature search (1992-2021), (2) study selection and synthesis by clinical experts from 8 countries, covering 24 subspecialties, and (3) formulation of consensus recommendations based on the literature and further shaped by patient advocate survey results. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text review, with 2318 meeting inclusion criteria (clinical care relevance to 22q11.2DS) including 894 with potential relevance to adults. The evidence base remains limited. Thus multidisciplinary recommendations represent statements of current best practice for this evolving field, informed by the available literature. These recommendations provide guidance for the recognition, evaluation, surveillance, and management of the many emerging and chronic 22q11.2DS-associated multisystem morbidities relevant to adults. The recommendations also address key genetic counseling and psychosocial considerations for the increasing numbers of adults with this complex condition.

KW - Adults

KW - Aging

KW - Clinical practice guidelines

KW - DiGeorge syndrome

KW - Treatment

U2 - 10.1016/j.gim.2022.11.012

DO - 10.1016/j.gim.2022.11.012

M3 - (Systematic) Review article

C2 - 36729052

SN - 1098-3600

VL - 25

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 3

M1 - 100344

ER -

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome

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