Article Dans Une Revue American Journal of Medical Genetics Part A Année : 2023

Updated consensus guidelines on the management of Phelan–McDermid syndrome

1 Department of Neurology, Children's Hospital [Boston]
2 HMS - Harvard Medical School [Boston]
3 MSSM - Icahn School of Medicine at Mount Sinai [New York]
4 Rush University Medical Center [Chicago]
5 NIMH - National Institute of Mental Health
6 NIH - National Institutes of Health [Bethesda, MD, USA]
7 Stanford University
8 Indiana University School of Medicine
9 IBPS - Institut de Biologie Paris Seine
10 NPS - Neuroscience Paris Seine
11 VCU - Virginia Commonwealth University
12 Universidade Federal de São Paulo
13 Boston Children's Hospital
14 Riley Children's Hospital at Indiana University Health
15 UC - University of Cincinnati
16 Cincinnati Children's Hospital Medical Center
17 University of Indianapolis
18 BCM - Baylor College of Medicine
19 Joe DiMaggio Children's Hospital [Florida, USA]
20 Texas A&M University System
21 NINDS - National Institute of Neurological Disorders and Stroke [Bethesda]
22 UMASS - University of Massachusetts Medical School [Worcester]
23 USC - University of Southern California
24 Phelan-McDermid Syndrome Foundation [Osprey, FL, USA]
25 King‘s College London
26 Wake Forest Baptist Medical Center
27 Massachusetts General Hospital [Boston]
28 Florida Cancer Specialists [Fort Myers, FL]
29 UNIMORE - Università degli Studi di Modena e Reggio Emilia = University of Modena and Reggio Emilia
30 RCR Genetics [South Carolina, USA]
31 Access Behavior Analysis, Indianapolis, Indiana, USA.
32 Washington University School of Medicine [Saint Louis, MO]
33 Mount Sinai School of Medicine
34 NEOMED - Northeastern Ohio Medical University
35 Emerson Health, Concord, Massachusetts, USA.
Jonathan A Bernstein
Loth Eva
  • Fonction : Auteur

Résumé

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.
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Dates et versions

inserm-04719028 , version 1 (02-10-2024)

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Siddharth Srivastava, Mustafa Sahin, Joseph D Buxbaum, Elizabeth Berry‐kravis, Latha Valluripalli Soorya, et al.. Updated consensus guidelines on the management of Phelan–McDermid syndrome. American Journal of Medical Genetics Part A, 2023, 191 (8), pp.2015-2044. ⟨10.1002/ajmg.a.63312⟩. ⟨inserm-04719028⟩
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