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

Sólveig Óskarsdóttir; Erik Boot; Terrence Blaine Crowley; Joanne C.Y. Loo; Jill M. Arganbright; Marco Armando; Adriane L. Baylis; Elemi J. Breetvelt; René M. Castelein; Madeline Chadehumbe; Christopher M. Cielo; Steven de Reuver; Stephan Eliez; Ania M. Fiksinski; Brian J. Forbes; Emily Gallagher; Sarah E. Hopkins; Oksana A. Jackson; Lorraine Levitz-Katz; Gunilla Klingberg; Michele P. Lambert; Bruno Marino; Maria R. Mascarenhas; Julie Moldenhauer; Edward M. Moss; Beata Anna Nowakowska; Ani Orchanian-Cheff; Carolina Putotto; Gabriela M. Repetto; Erica Schindewolf; Maude Schneider; Cynthia B. Solot; Kathleen E. Sullivan; Ann Swillen; Marta Unolt; Jason P. Van Batavia; Claudia Vingerhoets; Jacob Vorstman; Anne S. Bassett; Donna M. McDonald-McGinn

doi:10.1016/j.gim.2022.11.006

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

Sólveig Óskarsdóttir^*, Erik Boot^*, Terrence Blaine Crowley, Joanne C.Y. Loo, Jill M. Arganbright, Marco Armando, Adriane L. Baylis, Elemi J. Breetvelt, René M. Castelein, Madeline Chadehumbe, Christopher M. Cielo, Steven de Reuver, Stephan Eliez, Ania M. Fiksinski, Brian J. Forbes, Emily Gallagher, Sarah E. Hopkins, Oksana A. Jackson, Lorraine Levitz-Katz, Gunilla KlingbergMichele P. Lambert, Bruno Marino, Maria R. Mascarenhas, Julie Moldenhauer, Edward M. Moss, Beata Anna Nowakowska, Ani Orchanian-Cheff, Carolina Putotto, Gabriela M. Repetto, Erica Schindewolf, Maude Schneider, Cynthia B. Solot, Kathleen E. Sullivan, Ann Swillen, Marta Unolt, Jason P. Van Batavia, Claudia Vingerhoets, Jacob Vorstman, Anne S. Bassett^*, Donna M. McDonald-McGinn^*

^*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 children and adolescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, recruited expert clinicians worldwide to revise the original 2011 pediatric clinical practice guidelines in a stepwise process: (1) a systematic literature search (1992-2021), (2) study selection and data extraction by clinical experts from 9 different countries, covering 24 subspecialties, and (3) creation of a draft consensus document based on the literature and expert opinion, which was further shaped by survey results from family support organizations regarding perceived needs. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text reviews, including 1545 meeting criteria for potential relevance to clinical care of children and adolescents. Informed by the available literature, recommendations were formulated. Given evidence base limitations, multidisciplinary recommendations represent consensus statements of good practice for this evolving field. These recommendations provide contemporary guidance for evaluation, surveillance, and management of the many 22q11.2DS-associated physical, cognitive, behavioral, and psychiatric morbidities while addressing important genetic counseling and psychosocial issues.

Original language	English
Article number	100338
Number of pages	24
Journal	Genetics in Medicine
Volume	25
Issue number	3
DOIs	https://doi.org/10.1016/j.gim.2022.11.006
Publication status	Published - 1 Mar 2023

Keywords

22q11.2 deletion syndrome
Children
Clinical practice guidelines
Review
Treatment

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10.1016/j.gim.2022.11.006Licence: CC BY

Cite this

Óskarsdóttir, S., Boot, E., Crowley, T. B., Loo, J. C. Y., Arganbright, J. M., Armando, M., Baylis, A. L., Breetvelt, E. J., Castelein, R. M., Chadehumbe, M., Cielo, C. M., de Reuver, S., Eliez, S., Fiksinski, A. M., Forbes, B. J., Gallagher, E., Hopkins, S. E., Jackson, O. A., Levitz-Katz, L., ... McDonald-McGinn, D. M. (2023). Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome. Genetics in Medicine, 25(3), Article 100338. https://doi.org/10.1016/j.gim.2022.11.006

@article{d30a350a503b4e91a474153e54f5b026,

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

abstract = "This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, recruited expert clinicians worldwide to revise the original 2011 pediatric clinical practice guidelines in a stepwise process: (1) a systematic literature search (1992-2021), (2) study selection and data extraction by clinical experts from 9 different countries, covering 24 subspecialties, and (3) creation of a draft consensus document based on the literature and expert opinion, which was further shaped by survey results from family support organizations regarding perceived needs. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text reviews, including 1545 meeting criteria for potential relevance to clinical care of children and adolescents. Informed by the available literature, recommendations were formulated. Given evidence base limitations, multidisciplinary recommendations represent consensus statements of good practice for this evolving field. These recommendations provide contemporary guidance for evaluation, surveillance, and management of the many 22q11.2DS-associated physical, cognitive, behavioral, and psychiatric morbidities while addressing important genetic counseling and psychosocial issues.",

keywords = "22q11.2 deletion syndrome, Children, Clinical practice guidelines, Review, Treatment",

author = "S{\'o}lveig {\'O}skarsd{\'o}ttir and Erik Boot and Crowley, {Terrence Blaine} and Loo, {Joanne C.Y.} and Arganbright, {Jill M.} and Marco Armando and Baylis, {Adriane L.} and Breetvelt, {Elemi J.} and Castelein, {Ren{\'e} M.} and Madeline Chadehumbe and Cielo, {Christopher M.} and {de Reuver}, Steven and Stephan Eliez and Fiksinski, {Ania M.} and Forbes, {Brian J.} and Emily Gallagher and Hopkins, {Sarah E.} and Jackson, {Oksana A.} and Lorraine Levitz-Katz and Gunilla Klingberg and Lambert, {Michele P.} and Bruno Marino and Mascarenhas, {Maria R.} and Julie Moldenhauer and Moss, {Edward M.} and Nowakowska, {Beata Anna} and Ani Orchanian-Cheff and Carolina Putotto and Repetto, {Gabriela M.} and Erica Schindewolf and Maude Schneider and Solot, {Cynthia B.} and Sullivan, {Kathleen E.} and Ann Swillen and Marta Unolt and {Van Batavia}, {Jason P.} and Claudia Vingerhoets and Jacob Vorstman and Bassett, {Anne S.} and McDonald-McGinn, {Donna M.}",

note = "Funding Information: The authors acknowledge the support and endorsement provided by the 22q11.2 Society (http://www.22qsociety.org) for this work. The authors also acknowledge the administrative support by Lauren A. Lairson. The authors also acknowledge Eo Trueblood for creating the illustration of the pediatric patient. A.S.B. holds the Dalglish Chair in 22q11.2 Deletion Syndrome at the University Health Network and University of Toronto. Publisher Copyright: {\textcopyright} 2022 American College of Medical Genetics and Genomics",

year = "2023",

month = mar,

day = "1",

doi = "10.1016/j.gim.2022.11.006",

language = "English",

volume = "25",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Nature Publishing Group",

number = "3",

}

Óskarsdóttir, S, Boot, E, Crowley, TB, Loo, JCY, Arganbright, JM, Armando, M, Baylis, AL, Breetvelt, EJ, Castelein, RM, Chadehumbe, M, Cielo, CM, de Reuver, S, Eliez, S, Fiksinski, AM, Forbes, BJ, Gallagher, E, Hopkins, SE, Jackson, OA, Levitz-Katz, L, Klingberg, G, Lambert, MP, Marino, B, Mascarenhas, MR, Moldenhauer, J, Moss, EM, Nowakowska, BA, Orchanian-Cheff, A, Putotto, C, Repetto, GM, Schindewolf, E, Schneider, M, Solot, CB, Sullivan, KE, Swillen, A, Unolt, M, Van Batavia, JP, Vingerhoets, C, Vorstman, J, Bassett, AS & McDonald-McGinn, DM 2023, 'Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome', Genetics in Medicine, vol. 25, no. 3, 100338. https://doi.org/10.1016/j.gim.2022.11.006

TY - JOUR

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

AU - Óskarsdóttir, Sólveig

AU - Boot, Erik

AU - Crowley, Terrence Blaine

AU - Loo, Joanne C.Y.

AU - Arganbright, Jill M.

AU - Armando, Marco

AU - Baylis, Adriane L.

AU - Breetvelt, Elemi J.

AU - Castelein, René M.

AU - Chadehumbe, Madeline

AU - Cielo, Christopher M.

AU - de Reuver, Steven

AU - Eliez, Stephan

AU - Fiksinski, Ania M.

AU - Forbes, Brian J.

AU - Gallagher, Emily

AU - Hopkins, Sarah E.

AU - Jackson, Oksana A.

AU - Levitz-Katz, Lorraine

AU - Klingberg, Gunilla

AU - Lambert, Michele P.

AU - Marino, Bruno

AU - Mascarenhas, Maria R.

AU - Moldenhauer, Julie

AU - Moss, Edward M.

AU - Nowakowska, Beata Anna

AU - Orchanian-Cheff, Ani

AU - Putotto, Carolina

AU - Repetto, Gabriela M.

AU - Schindewolf, Erica

AU - Schneider, Maude

AU - Solot, Cynthia B.

AU - Sullivan, Kathleen E.

AU - Swillen, Ann

AU - Unolt, Marta

AU - Van Batavia, Jason P.

AU - Vingerhoets, Claudia

AU - Vorstman, Jacob

AU - Bassett, Anne S.

AU - McDonald-McGinn, Donna M.

N1 - Funding Information: The authors acknowledge the support and endorsement provided by the 22q11.2 Society (http://www.22qsociety.org) for this work. The authors also acknowledge the administrative support by Lauren A. Lairson. The authors also acknowledge Eo Trueblood for creating the illustration of the pediatric patient. A.S.B. holds the Dalglish Chair in 22q11.2 Deletion Syndrome at the University Health Network and University of Toronto. Publisher Copyright: © 2022 American College of Medical Genetics and Genomics

PY - 2023/3/1

Y1 - 2023/3/1

N2 - This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, recruited expert clinicians worldwide to revise the original 2011 pediatric clinical practice guidelines in a stepwise process: (1) a systematic literature search (1992-2021), (2) study selection and data extraction by clinical experts from 9 different countries, covering 24 subspecialties, and (3) creation of a draft consensus document based on the literature and expert opinion, which was further shaped by survey results from family support organizations regarding perceived needs. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text reviews, including 1545 meeting criteria for potential relevance to clinical care of children and adolescents. Informed by the available literature, recommendations were formulated. Given evidence base limitations, multidisciplinary recommendations represent consensus statements of good practice for this evolving field. These recommendations provide contemporary guidance for evaluation, surveillance, and management of the many 22q11.2DS-associated physical, cognitive, behavioral, and psychiatric morbidities while addressing important genetic counseling and psychosocial issues.

AB - This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, recruited expert clinicians worldwide to revise the original 2011 pediatric clinical practice guidelines in a stepwise process: (1) a systematic literature search (1992-2021), (2) study selection and data extraction by clinical experts from 9 different countries, covering 24 subspecialties, and (3) creation of a draft consensus document based on the literature and expert opinion, which was further shaped by survey results from family support organizations regarding perceived needs. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text reviews, including 1545 meeting criteria for potential relevance to clinical care of children and adolescents. Informed by the available literature, recommendations were formulated. Given evidence base limitations, multidisciplinary recommendations represent consensus statements of good practice for this evolving field. These recommendations provide contemporary guidance for evaluation, surveillance, and management of the many 22q11.2DS-associated physical, cognitive, behavioral, and psychiatric morbidities while addressing important genetic counseling and psychosocial issues.

KW - 22q11.2 deletion syndrome

KW - Children

KW - Clinical practice guidelines

KW - Review

KW - Treatment

U2 - 10.1016/j.gim.2022.11.006

DO - 10.1016/j.gim.2022.11.006

M3 - (Systematic) Review article

C2 - 36729053

SN - 1098-3600

VL - 25

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 3

M1 - 100338

ER -