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

Oskarsdottir, Solveig, 1953 (författare)
Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics,Sahlgrens Univ Hosp, Queen Silv Childrens Hosp, Dept Pediat Rheumatol & Immunol, Gothenburg, Sweden.;Univ Gothenburg, Sahlgrenska Acad, Inst Clin Sci, Dept Pediat, Gothenburg, Sweden.
Boot, E. (författare)
Advisiums Heeren Loo Zorggroep, Amersfoort, Netherlands.;Univ Hlth Network, Dalglish Family Clin 22q, Toronto, ON, Canada.;Maastricht Univ, Dept Psychiat & Neuropsychol, Maastricht, Netherlands.
Crowley, T. B. (författare)
Childrens Hosp Philadelphia, 22q & You Ctr, Clin Genet Ctr, Philadelphia, PA USA.;Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA USA.
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Loo, J. C. Y. (författare)
Univ Hlth Network, Dalglish Family Clin 22q, Toronto, ON, Canada.
Arganbright, J. M. (författare)
Childrens Mercy Hosp, Dept Otorhinolaryngol, Kansas City, MO USA.;Univ Missouri Kansas City, Sch Med, Kansas City, MO USA.,Childrens Hosp Philadelphia, Richard D Wood Jr Ctr Fetal Diag & Treatment, 22q & You Ctr, Philadelphia, PA USA.;Univ Penn, Perelman Sch Med, Dept Obstet & Gynecol, Philadelphia, PA USA.;Univ Penn, Perelman Sch Med, Dept Surg, Philadelphia, PA USA.
Armando, M. (författare)
Univ Lausanne, Lausanne Univ Hosp, Dept Psychiat, Div Child & Adolescent Psychiat, Lausanne, Switzerland.
Baylis, A. L. (författare)
Ohio State Univ, Coll Med, Nationwide Childrens Hosp, Dept Plast & Reconstruct Surg, Columbus, OH USA.
Breetvelt, E. J. (författare)
Hosp Sick Children, Dept Psychiat, Toronto, ON, Canada.;Univ Toronto, Dept Psychiat, Toronto, ON, Canada.;Hosp Sick Children, Genet & Genome Biol Program Reseach Inst, Toronto, ON, Canada.
Castelein, R. M. (författare)
Univ Med Ctr Utrecht, Dept Orthoped Surg, Utrecht, Netherlands.
Chadehumbe, M. (författare)
Childrens Hosp Philadelphia, 22q & You Ctr, Div Neurol, Philadelphia, PA USA.;Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA USA.
Cielo, C. M. (författare)
Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA USA.;Childrens Hosp Philadelphia, 22q & You Ctr, Div Pulm & Sleep Med, Philadelphia, PA USA.
de Reuver, S. (författare)
Univ Med Ctr Utrecht, Dept Orthoped Surg, Utrecht, Netherlands.
Eliez, S. (författare)
Gebeva Univ, Sch Med, Dept Psychiat, Fdn Pole Autisme, Geneva, Switzerland.,Childrens Hosp Philadelphia, 22q & You Ctr, Div Neurol, Philadelphia, PA USA.;Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA USA.,Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA USA.;Childrens Hosp Philadelphia, 22q & You Ctr, Div Allergy & Immunol, Philadelphia, PA USA.
Fiksinski, A. M. (författare)
Wilhelmina Childrens Hosp, Univ Med Ctr, Dept Pediat Psychol, Utrecht, Netherlands.
Forbes, B. J. (författare)
Childrens Hosp Philadelphia, 22q & You Ctr, Div Ophthalmol, Philadelphia, PA USA.;Univ Penn, Perelman Sch Med, Dept Surg, Philadelphia, PA USA.
Gallagher, E. (författare)
Univ Washington, Seattle Childrens Hosp, Sch Med, Div Craniofacial Med,Dept Pediat, Seattle, WA USA.
Hopkins, S. E. (författare)
Childrens Hosp Philadelphia, Richard D Wood Jr Ctr Fetal Diag & Treatment, 22q & You Ctr, Philadelphia, PA USA.
Jackson, O. A. (författare)
Childrens Hosp Philadelphia, 22q & You Ctr, Cleft Lip & Palate Program, Div Plast Reconstruct & Oral Surg, Philadelphia, PA USA.
Levitz-Katz, L. (författare)
Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA USA.;Childrens Hosp Philadelphia, 22q & You Ctr, Div Endocrinol & Diabet, Philadelphia, PA USA.
Klingberg, Gunilla (författare)
Malmö universitet,Odontologiska fakulteten (OD)
Lambert, M. P. (författare)
Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA USA.;Childrens Hosp Philadelphia, 22q & You Ctr, Div Hematol, Philadelphia, PA USA.
Marino, B. (författare)
Sapienza Univ Rome, Dept Pediat Obstet & Gynecol, Pediat Cardiol Unit, Rome, Italy.
Mascarenhas, M. R. (författare)
Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA USA.;Childrens Hosp Philadelphia, 22q & You Ctr, Div Gastroenterol Hepatol & Nutr, Philadelphia, PA USA.,Alemana Univ Desarrollo, Fac Med Clin, Inst Sci & Innovat Med, Rare Dis Program, Santiago, Chile.
Moldenhauer, J. (författare)
Moss, E. M. (författare)
Nowakowska, B. A. (författare)
Inst Mother & Child Hlth, Dept Med Genet, Warsaw, Poland.
Orchanian-Cheff, A. (författare)
Univ Hlth Network, Lib & Informat Serv, Toronto, ON, Canada.;Univ Hlth Network, Inst Educ Res TIER, Toronto, ON, Canada.
Putotto, C. (författare)
Sapienza Univ Rome, Dept Pediat Obstet & Gynecol, Pediat Cardiol Unit, Rome, Italy.
Repetto, G. M. (författare)
Schindewolf, E. (författare)
Schneider, M. (författare)
Univ Geneva, Fac Psychol & Educ Sci, Clin Psychol Unit Intellectual & Dev Disabil, Geneva, Switzerland.
Solot, C. B. (författare)
Childrens Hosp Philadelphia, 22q & You Ctr, Dept Speech Language Pathol, Philadelphia, PA USA.;Childrens Hosp Philadelphia, Ctr Childhood Commun, 22q & You Ctr, Philadelphia, PA USA.
Sullivan, K. E. (författare)
Swillen, A. (författare)
Univ Hosp UZ Leuven, Ctr Human Genet, Leuven, Belgium.;Katholieke Univ Leuven, Dept Human Genet, Leuven, Belgium.,Univ Toronto, Dept Psychiat, Toronto, ON, Canada.;Hosp Sick Children, Genet & Genome Biol Program Reseach Inst, Toronto, ON, Canada.;Ctr Addict & Mental Hlth, Clin Genet Res Program, Toronto, ON, Canada.;Ctr Addict & Mental Hlth, Campbell Family Mental Hlth Res Inst, Toronto, ON, Canada.
Unolt, M. (författare)
IRCCS, Osped Pediat Bambino Gesu, Dept Pediat Cardiol & Cardiac Surg, Rome, Italy.
Van Batavia, J. P. (författare)
Univ Penn, Perelman Sch Med, Dept Surg, Philadelphia, PA USA.;Childrens Hosp Philadelphia, 22q & You Ctr, Div Urol, Philadelphia, PA USA.
Vingerhoets, C. (författare)
Vorstman, J. (författare)
Hosp Sick Children, Dept Psychiat, Toronto, ON, Canada.;Hosp Sick Children, Genet & Genome Biol Program Reseach Inst, Toronto, ON, Canada.
Bassett, A. S. (författare)
McDonald-McGinn, D. M. (författare)
Childrens Hosp Philadelphia, 22q & You Ctr, Clin Genet Ctr, Philadelphia, PA USA.;Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA USA.;Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA USA.;Sapienza Univ, Dept Human Biol & Med Genet, Rome, Italy.
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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://gup.ub.gu.se...
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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 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 22q11.2DSassociated physical, cognitive, behavioral, and psychiatric morbidities while addressing important genetic counseling and psychosocial issues.& COPY; 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.

Ämnesord

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

Nyckelord

22q11
2 deletion syndrome
Children
Clinical practice guidelines
Review
Treatment
bernard-soulier-syndrome
cardio-facial-syndrome
partial
digeorge-syndrome
obstructive sleep-apnea
live viral vaccines
low-copy repeats
psychiatric-disorders
velocardiofacial syndrome
ocular findings
hearing-loss
Genetics & Heredity
22q11

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