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 -