{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T23:17:48Z","timestamp":1790723868249,"version":"4.1.0"},"reference-count":53,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2022,3,12]],"date-time":"2022-03-12T00:00:00Z","timestamp":1647043200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Phelan\u2013McDermid syndrome (PMS) is a rare, heterogeneous, and complex neurodevelopmental disorder. It is generally caused by a heterozygous microdeletion of contiguous genes located in the distal portion of the long arm of chromosome 22, including the SHANK3 gene. Sequence variants of SHANK3, including frameshift, nonsense mutations, small indels and splice site mutations also result in PMS. Furthermore, haploinsufficiency in SHANK3 has been suggested as the main cause of PMS. SHANK3 is also associated with intellectual disability, autism spectrum disorder and schizophrenia. The phenotype of PMS is variable, and lacks a distinctive phenotypic characteristic, so the clinical diagnosis should be confirmed by genetic analysis. PMS is a multi-system disorder, and clinical care must encompass various specialties and therapists. The role of risperidone, intranasal insulin, insulin growth factor 1, and oxytocin as potential therapeutic options in PMS will be discussed in this review. The diagnosis of PMS is important to provide an appropriate clinical evaluation, treatment, and genetic counseling.<\/jats:p>","DOI":"10.3390\/genes13030504","type":"journal-article","created":{"date-parts":[[2022,3,13]],"date-time":"2022-03-13T22:29:43Z","timestamp":1647210583000},"page":"504","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Clinical and Genetic Aspects of Phelan\u2013McDermid Syndrome: An Interdisciplinary Approach to Management"],"prefix":"10.3390","volume":"13","author":[{"given":"Francisco","family":"Cammarata-Scalisi","sequence":"first","affiliation":[{"name":"Pediatric Service, Regional of Antofagasta Hospital, Antofagasta 1240835, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Callea","sequence":"additional","affiliation":[{"name":"Pediatric Dentistry and Special Dental Care Unit, Meyer Children\u2019s University Hospital, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Martinelli","sequence":"additional","affiliation":[{"name":"Unit of Metabolism, Bambino Ges\u00f9 Children\u2019s Research Hospital IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1246-4166","authenticated-orcid":false,"given":"Colin Eric","family":"Willoughby","sequence":"additional","affiliation":[{"name":"Genomic Medicine, Biomedical Sciences Research Institute, Ulster University, Coleraine Campus, Coleraine BT52 1SA, Northern Ireland, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio C\u00e1rdenas","family":"Tadich","sequence":"additional","affiliation":[{"name":"Pediatric Service, Regional of Antofagasta Hospital, Antofagasta 1240835, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maykol","family":"Araya Castillo","sequence":"additional","affiliation":[{"name":"Clinical Laboratory, Regional of Antofagasta Hospital, Antofagasta 1240835, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Angelina","family":"Lacruz-Rengel","sequence":"additional","affiliation":[{"name":"Neuropediatrics Service, Childcare and Pediatric Department, University of Los Andes, M\u00e9rida 51101, Venezuela"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Medina","sequence":"additional","affiliation":[{"name":"Pediatric Service, Regional of Antofagasta Hospital, Antofagasta 1240835, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piercesare","family":"Grimaldi","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, University of Torino, 10126 Torino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9276-4590","authenticated-orcid":false,"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[{"name":"Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesu\u2019 Children\u2019s Research Hospital IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5611-2659","authenticated-orcid":false,"given":"Juli\u00e1n","family":"Nevado","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM), Instituto de Investigaci\u00f3n del Hospital Universitario La Paz (IdIPaz), 28046 Madrid, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en RED de Enfermedades Raras (CIBERER), 28046 Madrid, Spain"},{"name":"ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, Hospital La Paz, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,3,12]]},"reference":[{"key":"ref_1","unstructured":"Kniffin, C.L., and McKusick, V.A. 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