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

Boot, E. (författare)
Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands; The Dalglish Family 22q Clinic, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands
Oskarsdottir, Solveig, 1953 (författare)
Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics,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.
Loo, J. C. Y. (författare)
The Dalglish Family 22q Clinic, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada
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Crowley, T. B. (författare)
22q and You Center, Clinical Genetics Center, and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA
Orchanian-Cheff, A. (författare)
Library and Information Services, and The Institute of Education Research (TIER), University Health Network, Toronto, Ontario, Canada
Andrade, D. M. (författare)
Adult Genetic Epilepsy Program, Toronto Western Hospital and University of Toronto, Toronto, Ontario, Canada
Arganbright, J. M. (författare)
Division of Otolaryngology, Children's Mercy Hospital and University of Missouri Kansas City School of Medicine, Kansas City, MO,Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands
Castelein, R. M. (författare)
Department of Orthopedic Surgery, University Medical Center Utrecht, Utrecht, The Netherlands
Cserti-Gazdewich, C. (författare)
Hematology and Transfusion Medicine, University Health Network, Toronto, Ontario, Canada
de Reuver, S. (författare)
Department of Orthopedic Surgery, University Medical Center Utrecht, Utrecht, The Netherlands
Fiksinski, A. M. (författare)
Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands; Department of Pediatric Psychology, University Medical Centre, Wilhelmina Children's Hospital, Utrecht, The Netherlands
Klingberg, Gunilla (författare)
Malmö universitet,Odontologiska fakulteten (OD)
Lang, A. E. (författare)
The Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders, Toronto Western Hospital, University Health Network, Toronto, Ontario, Canada
Mascarenhas, M. R. (författare)
Division of Gastroenterology and 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA,Rare Diseases Program, Institute for Sciences and Innovation in Medicine, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile
Moss, E. M. (författare)
Bryn Mawr, PA
Nowakowska, B. A. (författare)
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
Oechslin, E. (författare)
Toronto Adult Congenital Heart Disease Program, Peter Munk Cardiac Centre, University Health Network and University of Toronto, Toronto, Ontario, Canada
Palmer, L. (författare)
The Dalglish Family 22q Clinic, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada
Repetto, G. M. (författare)
Reyes, N. G. D. (författare)
The Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders, Toronto Western Hospital, University Health Network, Toronto, Ontario, Canada
Schneider, M. (författare)
Clinical Psychology Unit for Intellectual and Developmental Disabilities, Faculty of Psychology and Educational Sciences, University of Geneva, Geneva, Switzerland
Silversides, C. (författare)
Toronto ACHD Program, Mount Sinai and Toronto General Hospitals, University of Toronto, Toronto, Ontario, Canada
Sullivan, K. E. (författare)
Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA; Division of Allergy and Immunology and 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA
Swillen, A. (författare)
Center for Human Genetics, University Hospital UZ Leuven, Department of Human Genetics, KU Leuven, Leuven, Belgium,The Dalglish Family 22q Clinic, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada; Department of Mental Health and Division of Cardiology, Department of Medicine, and Toronto General Hospital Research Institute, University Health Network, Toronto, Ontario, Canada
van Amelsvoort, Tamj (författare)
Van Batavia, J. P. (författare)
Department of Surgery, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA; Division of Urology and 22q and You Center, Children's Hospital of Philadelphia, Philadelphia, PA
Vingerhoets, C. (författare)
Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands
McDonald-McGinn, D. M. (författare)
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 of the University of Pennsylvania, Philadelphia, PA; Department of Human Biology and Medical Genetics, Sapienza University, Rome, Italy
Bassett, A. S. (författare)
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 (creator_code:org_t)
Elsevier BV, 2023
2023
Engelska.
Ingår i: Genetics in Medicine. - : Elsevier BV. - 1098-3600 .- 1530-0366. ; 25:3
Relaterad länk:
https://doi.org/10.1...
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https://mau.diva-por... (primary) (Raw object)
https://gup.ub.gu.se...
https://doi.org/10.1...
https://urn.kb.se/re...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • This review aimed to update the clinical practice guidelines for managing adults with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society recruited expert clinicians worldwide to revise the original clinical practice guidelines for adults in a stepwise process according to best practices: (1) a systematic literature search (1992-2021), (2) study selection and synthesis by clinical experts from 8 countries, covering 24 subspecialties, and (3) formulation of consensus recommendations based on the literature and further shaped by patient advocate survey results. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text review, with 2318 meeting inclusion criteria (clinical care relevance to 22q11.2DS) including 894 with potential relevance to adults. The evidence base remains limited. Thus multidisciplinary recommendations represent statements of current best practice for this evolving field, informed by the available literature. These recommendations provide guidance for the recognition, evaluation, surveillance, and management of the many emerging and chronic 22q11.2DS-associated multisystem morbidities relevant to adults. The recommendations also address key genetic counseling and psychosocial considerations for the increasing numbers of adults with this complex condition.& COPY; 2023 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

Nyckelord

Adults
Aging
Clinical practice guidelines
DiGeorge syndrome
Treatment
bernard-soulier-syndrome
low-copy repeats
velocardiofacial syndrome
presenting symptoms
antibody deficiency
parkinsons-disease
schizophrenia
features
risk
prevalence
Genetics & Heredity
Adults; Aging; Clinical practice guidelines; DiGeorge syndrome; Treatment

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