TY - JOUR
T1 - Updated consensus guidelines on the management of Phelan–McDermid syndrome
AU - Srivastava, Siddharth
AU - Sahin, Mustafa
AU - Buxbaum, Joseph D.
AU - Berry-Kravis, Elizabeth
AU - Soorya, Latha Valluripalli
AU - Thurm, Audrey
AU - Bernstein, Jonathan A.
AU - Asante-Otoo, Afua
AU - Bennett, William E.
AU - Betancur, Catalina
AU - Brickhouse, Tegwyn H.
AU - Passos Bueno, Maria Rita
AU - Chopra, Maya
AU - Christensen, Celanie K.
AU - Cully, Jennifer L.
AU - Dies, Kira
AU - Friedman, Kate
AU - Gummere, Brittany
AU - Holder, J. Lloyd
AU - Jimenez-Gomez, Andres
AU - Kerins, Carolyn A.
AU - Khan, Omar
AU - Kohlenberg, Teresa
AU - Lacro, Ronald V.
AU - Levi, Lori A.
AU - Levy, Tess
AU - Linnehan, Diane
AU - Eva, Loth
AU - Moshiree, Baharak
AU - Neumeyer, Ann
AU - Paul, Scott M.
AU - Phelan, Katy
AU - Persico, Antonio
AU - Rapaport, Robert
AU - Rogers, Curtis
AU - Saland, Jeffrey
AU - Sethuram, Swathi
AU - Shapiro, Janine
AU - Tarr, Phillip I.
AU - White, Kerry M.
AU - Wickstrom, Jordan
AU - Williams, Kent M.
AU - Winrow, Dana
AU - Wishart, Brian
AU - Kolevzon, Alexander
N1 - Publisher Copyright:
© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
PY - 2023/8
Y1 - 2023/8
N2 - 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.
AB - 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.
KW - Phelan–McDermid syndrome
KW - SHANK3
KW - assessment
KW - autism spectrum disorder
KW - monitoring
KW - treatment
UR - http://www.scopus.com/inward/record.url?scp=85164135066&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.63312
DO - 10.1002/ajmg.a.63312
M3 - Review article
C2 - 37392087
AN - SCOPUS:85164135066
SN - 1552-4825
VL - 191
SP - 2015
EP - 2044
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 8
ER -