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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\u2010scale genotype\u2013phenotype 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\u2010specific 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.<\/jats:p>","DOI":"10.1002\/ajmg.a.63312","type":"journal-article","created":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T08:28:36Z","timestamp":1688200116000},"page":"2015-2044","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":50,"title":["Updated consensus guidelines on the management of Phelan\u2013McDermid syndrome"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7008-1879","authenticated-orcid":false,"given":"Siddharth","family":"Srivastava","sequence":"first","affiliation":[{"name":"Department of Neurology Boston Children's Hospital  Boston Massachusetts USA"},{"name":"Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa","family":"Sahin","sequence":"additional","affiliation":[{"name":"Department of Neurology Boston Children's Hospital  Boston Massachusetts USA"},{"name":"Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph D.","family":"Buxbaum","sequence":"additional","affiliation":[{"name":"Seaver Autism Center for Research and Treatment Icahn School of Medicine at Mount Sinai  New York New York USA"},{"name":"Department of Psychiatry Icahn School of Medicine at Mount Sinai  New York New York USA"},{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai  New York New York USA"},{"name":"Department of Neuroscience Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Berry\u2010Kravis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Rush University Medical Center  Chicago Illinois USA"},{"name":"Department of Neurological Sciences Rush University Medical Center  Chicago Illinois USA"},{"name":"Department of Biochemistry Rush University Medical Center  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Latha Valluripalli","family":"Soorya","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences Rush University Medical Center  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Thurm","sequence":"additional","affiliation":[{"name":"Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5369-346X","authenticated-orcid":false,"given":"Jonathan A.","family":"Bernstein","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Stanford University School of Medicine  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afua","family":"Asante\u2010Otoo","sequence":"additional","affiliation":[{"name":"Rehabilitation Medicine Department NIH Clinical Center  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr","given":"William E.","family":"Bennett","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Indiana University School of Medicine  Indianapolis Indiana USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catalina","family":"Betancur","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM, CNRS, Neuroscience Paris Seine Institut de Biologie Paris Seine  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tegwyn H.","family":"Brickhouse","sequence":"additional","affiliation":[{"name":"Department of Dental Public Health &amp; 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