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Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome
Indexado
WoS WOS:001029315800001
Scopus SCOPUS_ID:85146771243
DOI 10.1016/J.GIM.2022.11.006
Año 2023
Tipo revisión

Citas Totales

Autores Afiliación Chile

Instituciones Chile

% Participación
Internacional

Autores
Afiliación Extranjera

Instituciones
Extranjeras


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.

Revista



Revista ISSN
Genetics In Medicine 1098-3600

Métricas Externas



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Disciplinas de Investigación



WOS
Genetics & Heredity
Scopus
Sin Disciplinas
SciELO
Sin Disciplinas

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Publicaciones WoS (Ediciones: ISSHP, ISTP, AHCI, SSCI, SCI), Scopus, SciELO Chile.

Colaboración Institucional



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Autores - Afiliación



Ord. Autor Género Institución - País
1 Óskarsdóttir, Sólveig Mujer Drottning Silvias Barnsjukhus - Suecia
Sahlgrenska Akademin - Suecia
Sahlgrens Univ Hosp - Suecia
Univ Gothenburg - Suecia
2 Boot, Erik Hombre Advisium - Países Bajos
University Health Network University of Toronto - Canadá
Universiteit Maastricht - Países Bajos
Advisiums Heeren Loo Zorggroep - Países Bajos
Univ Hlth Network - Canadá
Maastricht Univ - Países Bajos
University of Toronto - Canadá
University Health Network - Canadá
3 Crowley, T. B. Hombre The Children's Hospital of Philadelphia - Estados Unidos
Childrens Hosp Philadelphia - Estados Unidos
Children's Hospital of Philadelphia - Panamá
Children's Hospital of Philadelphia - Estados Unidos
4 Loo, Joanne C.Y. Mujer University Health Network University of Toronto - Canadá
Univ Hlth Network - Canadá
University of Toronto - Canadá
University Health Network - Canadá
5 Arganbright, Jill M. Mujer University of Missouri-Kansas City - Estados Unidos
Childrens Mercy Hosp - Estados Unidos
Univ Missouri Kansas City - Estados Unidos
6 Armando, Marco Hombre Centre Hospitalier Universitaire Vaudois - Suiza
Univ Lausanne - Suiza
7 Baylis, Adriane L. Mujer The Ohio State University College of Medicine - Estados Unidos
OHIO STATE UNIV - Estados Unidos
8 Breetvelt, Elemi J. - Hospital for Sick Children University of Toronto - Canadá
University of Toronto - Canadá
SickKids Research Institute - Canadá
Hosp Sick Children - Canadá
UNIV TORONTO - Canadá
The Hospital for Sick Children - Canadá
9 Castelein, René M. Hombre University Medical Center Utrecht - Países Bajos
Univ Med Ctr Utrecht - Países Bajos
10 Chadehumbe, Madeline Mujer The Children's Hospital of Philadelphia - Estados Unidos
University of Pennsylvania Perelman School of Medicine - Estados Unidos
Childrens Hosp Philadelphia - Estados Unidos
UNIV PENN - Estados Unidos
Children's Hospital of Philadelphia - Estados Unidos
11 Cielo, C. M. Hombre University of Pennsylvania Perelman School of Medicine - Estados Unidos
The Children's Hospital of Philadelphia - Estados Unidos
UNIV PENN - Estados Unidos
Childrens Hosp Philadelphia - Estados Unidos
Children's Hospital of Philadelphia - Estados Unidos
12 de Reuver, Steven Hombre University Medical Center Utrecht - Países Bajos
Univ Med Ctr Utrecht - Países Bajos
13 Eliez, Stephan Hombre Université de Genève Faculté de Médecine - Suiza
Gebeva Univ - Suiza
14 Fiksinski, Ania M. Mujer Universiteit Maastricht - Países Bajos
Wilhelmina Kinderziekenhuis - Países Bajos
Wilhelmina Childrens Hosp - Países Bajos
15 Forbes, Brian J. Hombre The Children's Hospital of Philadelphia - Estados Unidos
University of Pennsylvania Perelman School of Medicine - Estados Unidos
Childrens Hosp Philadelphia - Estados Unidos
UNIV PENN - Estados Unidos
Children's Hospital of Philadelphia - Estados Unidos
16 Gallagher, Emily Mujer University of Washington School of Medicine - Estados Unidos
UNIV WASHINGTON - Estados Unidos
17 Hopkins, Sarah E. Mujer The Children's Hospital of Philadelphia - Estados Unidos
University of Pennsylvania Perelman School of Medicine - Estados Unidos
Childrens Hosp Philadelphia - Estados Unidos
UNIV PENN - Estados Unidos
Children's Hospital of Philadelphia - Estados Unidos
18 Jackson, Oksana A. Mujer University of Pennsylvania Perelman School of Medicine - Estados Unidos
The Children's Hospital of Philadelphia - Estados Unidos
Childrens Hosp Philadelphia - Estados Unidos
Children's Hospital of Philadelphia - Estados Unidos
19 Levitz-Katz, Lorraine Mujer University of Pennsylvania Perelman School of Medicine - Estados Unidos
Children's Hospital of Philadelphia - Panamá
UNIV PENN - Estados Unidos
Childrens Hosp Philadelphia - Estados Unidos
The Children's Hospital of Philadelphia - Estados Unidos
Children's Hospital of Philadelphia - Estados Unidos
20 Klingberg, Gunilla Mujer Malmo University Faculty of Odontology - Suecia
Malmo Univ - Suecia
21 Lambert, Michele P. Mujer University of Pennsylvania Perelman School of Medicine - Estados Unidos
Children's Hospital of Philadelphia - Panamá
UNIV PENN - Estados Unidos
Childrens Hosp Philadelphia - Estados Unidos
The Children's Hospital of Philadelphia - Estados Unidos
Children's Hospital of Philadelphia - Estados Unidos
22 Marino, Bruno Hombre Sapienza Università di Roma - Italia
Sapienza Univ Rome - Italia
23 Mascarenhas, Maria R. Mujer University of Pennsylvania Perelman School of Medicine - Estados Unidos
Children's Hospital of Philadelphia - Panamá
UNIV PENN - Estados Unidos
Childrens Hosp Philadelphia - Estados Unidos
The Children's Hospital of Philadelphia - Estados Unidos
Children's Hospital of Philadelphia - Estados Unidos
24 Moldenhauer, Julie Mujer The Children's Hospital of Philadelphia - Estados Unidos
University of Pennsylvania Perelman School of Medicine - Estados Unidos
Childrens Hosp Philadelphia - Estados Unidos
UNIV PENN - Estados Unidos
Children's Hospital of Philadelphia - Estados Unidos
25 Moss, Edward M. Hombre Independent Scholar - Panamá
26 Nowakowska, Beata Mujer Instytut Matki I Dziecka - Polonia
Inst Mother & Child Hlth - Polonia
27 Orchanian-Cheff, Ani - University Health Network University of Toronto - Canadá
Univ Hlth Network - Canadá
University of Toronto - Canadá
University Health Network - Canadá
28 Putotto, Carolina Mujer Sapienza Università di Roma - Italia
Sapienza Univ Rome - Italia
29 REPETTO-LISBOA, MARIA GABRIELA Mujer Facultad de Medicina Clínica Alemana Universidad del Desarrollo - Chile
Universidad del Desarrollo - Chile
30 Schindewolf, Erica Mujer The Children's Hospital of Philadelphia - Estados Unidos
Childrens Hosp Philadelphia - Estados Unidos
Children's Hospital of Philadelphia - Estados Unidos
31 Schneider, Maude - Université de Genève - Suiza
32 Solot, Cynthia B. Mujer The Children's Hospital of Philadelphia - Estados Unidos
Childrens Hosp Philadelphia - Estados Unidos
Children's Hospital of Philadelphia - Estados Unidos
33 Sullivan, Kathleen E. Mujer University of Pennsylvania Perelman School of Medicine - Estados Unidos
The Children's Hospital of Philadelphia - Estados Unidos
UNIV PENN - Estados Unidos
Childrens Hosp Philadelphia - Estados Unidos
Children's Hospital of Philadelphia - Estados Unidos
34 Swillen, A. Mujer KU Leuven– University Hospital Leuven - Bélgica
Univ Hosp UZ Leuven - Bélgica
Katholieke Univ Leuven - Bélgica
35 Unolt, Marta Mujer Sapienza Università di Roma - Italia
IRCCS Ospedale Pediatrico Bambino Gesù - Italia
IRCCS - Italia
36 Van Batavia, Jason P. Hombre University of Pennsylvania Perelman School of Medicine - Estados Unidos
The Children's Hospital of Philadelphia - Estados Unidos
UNIV PENN - Estados Unidos
Childrens Hosp Philadelphia - Estados Unidos
Children's Hospital of Philadelphia - Estados Unidos
37 Vingerhoets, Claudia Mujer Advisium - Países Bajos
Universiteit Maastricht - Países Bajos
38 Vorstman, Jacob A. S. Hombre Hospital for Sick Children University of Toronto - Canadá
SickKids Research Institute - Canadá
Hosp Sick Children - Canadá
University of Toronto - Canadá
The Hospital for Sick Children - Canadá
39 Bassett, Anne S. Mujer University Health Network University of Toronto - Canadá
University of Toronto - Canadá
SickKids Research Institute - Canadá
Centre for Addiction and Mental Health - Canadá
UNIV TORONTO - Canadá
Hosp Sick Children - Canadá
Ctr Addict & Mental Hlth - Canadá
University Health Network - Canadá
40 McDonald-McGinn, Donna M. Mujer The Children's Hospital of Philadelphia - Estados Unidos
University of Pennsylvania Perelman School of Medicine - Estados Unidos
Sapienza Università di Roma - Italia
Childrens Hosp Philadelphia - Estados Unidos
UNIV PENN - Estados Unidos
Sapienza Univ - Italia
Children's Hospital of Philadelphia - Panamá
Children's Hospital of Philadelphia - Estados Unidos

Muestra la afiliación y género (detectado) para los co-autores de la publicación.

Financiamiento



Fuente
University of Toronto
22q11.2 Society

Muestra la fuente de financiamiento declarada en la publicación.

Agradecimientos



Agradecimiento
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.
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.

Muestra la fuente de financiamiento declarada en la publicación.