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| 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
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.
| 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 |
| 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. |