American journal of medical genetics. Part A · 2023
Updated consensus guidelines on the management of Phelan-McDermid syndrome.
СтатьяОбзорПоддержка NIH: внешняя программаНазвание и аннотация: Перевод в очереди
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Srivastava Siddharth, Sahin Mustafa, Buxbaum Joseph D, Berry-Kravis Elizabeth, Soorya Latha Valluripalli, Thurm Audrey, Bernstein Jonathan A, Asante-Otoo Afua, Bennett William E, Betancur Catalina, Brickhouse Tegwyn H, Passos Bueno Maria Rita, Chopra Maya, Christensen Celanie K, Cully Jennifer L, Dies Kira, Friedman Kate, Gummere Brittany, Holder J Lloyd, Jimenez-Gomez Andres, Kerins Carolyn A, Khan Omar, Kohlenberg Teresa, Lacro Ronald V, Levi Lori A, Levy Tess, Linnehan Diane, Eva Loth, Moshiree Baharak, Neumeyer Ann, Paul Scott M, Phelan Katy, Persico Antonio, Rapaport Robert, Rogers Curtis, Saland Jeffrey, Sethuram Swathi, Shapiro Janine, Tarr Phillip I, White Kerry M, Wickstrom Jordan, Williams Kent M, Winrow Dana, Wishart Brian, Kolevzon Alexander
Аннотация
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.