Updated consensus guidelines on the management of Phelan-McDermid syndrome.

Autor: Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Sahin M; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Buxbaum JD; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Berry-Kravis E; Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA.; Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA.; Department of Biochemistry, Rush University Medical Center, Chicago, Illinois, USA., Soorya LV; Department of Psychiatry and Behavioral Sciences, Rush University Medical Center, Chicago, Illinois, USA., Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA., Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., Asante-Otoo A; Rehabilitation Medicine Department, NIH Clinical Center, Bethesda, Maryland, USA., Bennett WE Jr; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA., Betancur C; Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine, Institut de Biologie Paris Seine, Paris, France., Brickhouse TH; Department of Dental Public Health & Policy, School of Dentistry, Virginia Commonwealth University, Richmond, Virginia, USA., Passos Bueno MR; Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano e Células-tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil., Chopra M; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Christensen CK; Division of Developmental Medicine, Department of Pediatrics, Riley Children's Health, Indianapolis, Indiana, USA.; Division of Child Neurology, Department of Neurology, Riley Children's Health, Indianapolis, Indiana, USA., Cully JL; Department of Pediatrics, College of Medicine and Division of Dentistry and Orthodontics, University of Cincinnati, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Dies K; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Friedman K; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Gummere B; Indiana University, Indianapolis, Indiana, USA., Holder JL Jr; Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, Texas, USA., Jimenez-Gomez A; Joe DiMaggio Children's Hospital, Hollywood, Florida, USA., Kerins CA; Department of Pediatric Dentistry, School of Dentistry, Texas A&M University, Dallas, Texas, USA., Khan O; National Institute of Neurological Disease and Stroke, Bethesda, Maryland, USA., Kohlenberg T; University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA., Lacro RV; Department of Cardiology, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Levi LA; University of Southern California, Arcadia, California, USA., Levy T; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Linnehan D; Phelan-McDermid Syndrome Foundation, Osprey, Florida, USA., Eva L; Kings College London, London, UK., Moshiree B; Department of Medicine, Wake Forest/Atrium Health, Charlotte, North Carolina, USA., Neumeyer A; Lurie Center for Autism, Massachusetts General Hospital, Lexington, Massachusetts, USA, Harvard Medical School, Boston, Massachusetts, USA., Paul SM; Rehabilitation Medicine Department, NIH Clinical Center, Bethesda, Maryland, USA., Phelan K; Genetics Laboratory, Florida Cancer Specialists and Research Institute, Fort Myers, Florida, USA., Persico A; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy., Rapaport R; Department of Pediatrics, Kravis Children's Hospital, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Rogers C; RCR Genetics, Greer, South Carolina, USA., Saland J; Department of Pediatrics, Kravis Children's Hospital, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Sethuram S; Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA., Shapiro J; Access Behavior Analysis, Indianapolis, Indiana, USA., Tarr PI; Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA., White KM; Division of Developmental Medicine, Department of Pediatrics, Riley Children's Health, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Riley Children's Health, Indianapolis, Indiana, USA., Wickstrom J; Sinai Rehabilitation Center, Lifebridge Health, Baltimore, Maryland, USA., Williams KM; Department of Pediatrics, The Ohio State University School of Medicine, Columbus, Ohio, USA., Winrow D; Emerson Health, Concord, Massachusetts, USA., Wishart B; Massachusetts General Hospital, Boston, Massachusetts, USA., Kolevzon A; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Pediatrics, Kravis Children's Hospital, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Aug; Vol. 191 (8), pp. 2015-2044. Date of Electronic Publication: 2023 Jul 01.
DOI: 10.1002/ajmg.a.63312
Abstrakt: Phelan-McDermid syndrome (PMS) is a genetic condition caused by SHANK3 haploinsufficiency and characterized by a wide range of neurodevelopmental and systemic manifestations. The first practice parameters for assessment and monitoring in individuals with PMS were published in 2014; recently, knowledge about PMS has grown significantly based on data from longitudinal phenotyping studies and large-scale genotype-phenotype investigations. The objective of these updated clinical management guidelines was to: (1) reflect the latest in knowledge in PMS and (2) provide guidance for clinicians, researchers, and the general community. A taskforce was established with clinical experts in PMS and representatives from the parent community. Experts joined subgroups based on their areas of specialty, including genetics, neurology, neurodevelopment, gastroenterology, primary care, physiatry, nephrology, endocrinology, cardiology, gynecology, and dentistry. Taskforce members convened regularly between 2021 and 2022 and produced specialty-specific guidelines based on iterative feedback and discussion. Taskforce leaders then established consensus within their respective specialty group and harmonized the guidelines. The knowledge gained over the past decade allows for improved guidelines to assess and monitor individuals with PMS. Since there is limited evidence specific to PMS, intervention mostly follows general guidelines for treating individuals with developmental disorders. Significant evidence has been amassed to guide the management of comorbid neuropsychiatric conditions in PMS, albeit mainly from caregiver report and the experience of clinical experts. These updated consensus guidelines on the management of PMS represent an advance for the field and will improve care in the community. Several areas for future research are also highlighted and will contribute to subsequent updates with more refined and specific recommendations as new knowledge accumulates.
(© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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