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

Adolescent Humans Child DiGeorge Syndrome / genetics Genetic Counseling Surveys and Questionnaires
22q11.2 deletion syndrome Children Clinical practice guidelines Review Treatment

Journal

Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366
Titre abrégé: Genet Med
Pays: United States
ID NLM: 9815831

Informations de publication

Date de publication:
03 2023
Historique:
received: 03 05 2022
revised: 04 11 2022
accepted: 08 11 2022
pubmed: 3 2 2023
medline: 9 3 2023
entrez: 2 2 2023
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.gim.2022.11.006 PMID: 36729053
pubmed: 36729053
pii: S1098-3600(22)01018-8
doi: 10.1016/j.gim.2022.11.006
pii:
doi:

Types de publication

Journal Article Review Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

100338

Informations de copyright

Copyright © 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Conflict of Interest The authors declare no conflicts of interest.

Auteurs

Sólveig Óskarsdóttir (S)

Department of Pediatric Rheumatology and Immunology, Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. Electronic address: solveig.oskarsdottir@vgregion.se.

Erik Boot (E)

Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands; The Dalglish Family 22q Clinic, University Health Network, Toronto, Ontario, Canada; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands. Electronic address: erik.boot@sheerenloo.nl.

Terrence Blaine Crowley (TB)

The 22q and You Center, Clinical Genetics Center, and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA.

Joanne C Y Loo (JCY)

The Dalglish Family 22q Clinic, University Health Network, Toronto, Ontario, Canada.

Jill M Arganbright (JM)

Department of Otorhinolaryngology, Children's Mercy Hospital and University of Missouri Kansas City School of Medicine, Kansas City, MO.

Marco Armando (M)

Division of Child and Adolescent Psychiatry, Department of Psychiatry, Lausanne University Hospital, University of Lausanne, Lausanne, Switzerland.

Adriane L Baylis (AL)

Department of Plastic and Reconstructive Surgery, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH.

Elemi J Breetvelt (EJ)

Department of Psychiatry, Hospital for Sick Children, Toronto, Ontario, Canada; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada; Genetics & Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.

René M Castelein (RM)

Department of Orthopedic Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.

Madeline Chadehumbe (M)

Division of Neurology, 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

Christopher M Cielo (CM)

Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Division of Pulmonary and Sleep Medicine, 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA.

Steven de Reuver (S)

Department of Orthopedic Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.

Stephan Eliez (S)

Fondation Pôle Autisme, Department of Psychiatry, Geneva University School of Medecine, Geneva, Switzerland.

Ania M Fiksinski (AM)

Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands; Department of Pediatric Psychology, University Medical Centre, Wilhelmina Children's Hospital, Utrecht, The Netherlands.

Brian J Forbes (BJ)

Division of Ophthalmology, The 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

Emily Gallagher (E)

Division of Craniofacial Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, Seattle, WA.

Sarah E Hopkins (SE)

Division of Neurology, 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

Oksana A Jackson (OA)

Department of Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Cleft Lip and Palate Program, Division of Plastic, Reconstructive and Oral Surgery, 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA.

Lorraine Levitz-Katz (L)

Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Division of Endocrinology and Diabetes, 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA.

Gunilla Klingberg (G)

Faculty of Odontology, Malmö University, Malmö, Sweden.

Michele P Lambert (MP)

Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Division of Hematology, 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA.

Bruno Marino (B)

Pediatric Cardiology Unit, Department of Pediatrics, Obstetrics and Gynecology, "Sapienza" University of Rome, Rome, Italy.

Maria R Mascarenhas (MR)

Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Division of Gastroenterology, Hepatology and Nutrition, 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA.

Julie Moldenhauer (J)

Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, 22q and You Center, The Children's Hospital of Philadelphia, Philadelphia, PA; Departments of Obstetrics and Gynecology and Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

Edward M Moss (EM)

Independent Scholar, Bryn Mawr, PA.

Beata Anna Nowakowska (BA)

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.

Ani Orchanian-Cheff (A)

Library and Information Services and The Institute of Education Research (TIER), University Health Network, Toronto, Ontario, Canada.

Carolina Putotto (C)

Pediatric Cardiology Unit, Department of Pediatrics, Obstetrics and Gynecology, "Sapienza" University of Rome, Rome, Italy.

Gabriela M Repetto (GM)

Rare Diseases Program, Institute for Sciences and Innovation in Medicine, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile.

Erica Schindewolf (E)

Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, 22q and You Center, The Children's Hospital of Philadelphia, Philadelphia, PA.

Maude Schneider (M)

Clinical Psychology Unit for Intellectual and Developmental Disabilities, Faculty of Psychology and Educational Sciences, University of Geneva, Geneva, Switzerland.

Cynthia B Solot (CB)

Department of Speech-Language Pathology and Center for Childhood Communication, 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA.

Kathleen E Sullivan (KE)

Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Division of Allergy and Immunology, 22q and You Center, The Children's Hospital of Philadelphia, Philadelphia, PA.

Ann Swillen (A)

Center for Human Genetics, University Hospital UZ Leuven, and Department of Human Genetics, KU Leuven, Leuven, Belgium.

Marta Unolt (M)

Pediatric Cardiology Unit, Department of Pediatrics, Obstetrics and Gynecology, "Sapienza" University of Rome, Rome, Italy; Department of Pediatric Cardiology and Cardiac Surgery, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.

Jason P Van Batavia (JP)

Department of Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Division of Urology, 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA.

Claudia Vingerhoets (C)

Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands.

Jacob Vorstman (J)

Department of Psychiatry, Hospital for Sick Children, Toronto, Ontario, Canada; Genetics & Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.

Anne S Bassett (AS)

The Dalglish Family 22q Clinic, University Health Network, Toronto, Ontario, Canada; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada; Genetics & Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada. Electronic address: anne.bassett@utoronto.ca.

Donna M McDonald-McGinn (DM)

The 22q and You Center, Clinical Genetics Center, and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Department of Human Biology and Medical Genetics, Sapienza University, Rome, Italy. Electronic address: mcginn@chop.edu.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Updated clinical practice recommendations for...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Updated clinical practice recommendations for...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Updated clinical practice recommendations for...
questionsmedicales.fr › Maladies endocriniennes › Maladies de la parathyroïde › Hypoparathyroïdie › Syndrome de délétion 22q11 › Syndrome de DiGeorge › Updated clinical practice recommendations for...
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de génétique › Conseil génétique › Updated clinical practice recommendations for...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Enquêtes et questionnaires › Updated clinical practice recommendations for...