{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T17:17:57Z","timestamp":1783012677668,"version":"3.54.6"},"reference-count":35,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T00:00:00Z","timestamp":1773705600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T00:00:00Z","timestamp":1773705600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    People with Phelan\u2013McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school\u2010aged children with PMS, identifying genetic contributions to language and communication abilities, and determining the feasibility of remote data collection for research purposes. A speech language pathologist used standardized assessments and direct evaluations by video conferencing to evaluate language and communication abilities. Sixteen children and adolescents were evaluated: 5 with\n                    <jats:italic>SHANK3<\/jats:italic>\n                    pathogenic variants, 9 with 22q13 deletions including\n                    <jats:italic>SHANK3<\/jats:italic>\n                    (PMS\u2010\n                    <jats:italic>SHANK3<\/jats:italic>\n                    related), and 2 with 22q13 deletions preserving\n                    <jats:italic>SHANK3<\/jats:italic>\n                    (PMS\u2010\n                    <jats:italic>SHANK3<\/jats:italic>\n                    unrelated). All showed moderate\u2010to\u2010severe language impairment across all assessments. Females demonstrated higher communication abilities than males. Haploinsufficiency of\n                    <jats:italic>SHANK3<\/jats:italic>\n                    appears to be the main driver of language impairment in PMS; however, participants with preserved\n                    <jats:italic>SHANK3<\/jats:italic>\n                    also scored in the impairment range, suggesting other contributions from 22q13 genes to the language phenotype. This study demonstrates the efficacy of using standardized instruments and remote data collection methods to assess communication in PMS. Remote methods may be helpful for the assessment of other genetic disorders involving language phenotypes.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70117","type":"journal-article","created":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T04:10:52Z","timestamp":1773807052000},"page":"1764-1772","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Remote Language Assessment in School\u2010Age Children With Phelan\u2013\n                    <scp>McDermid<\/scp>\n                    Syndrome and Genotype\u2013Phenotype Correlation"],"prefix":"10.1002","volume":"200","author":[{"given":"Sarah","family":"Quadri\u2010Valverde","sequence":"first","affiliation":[{"name":"Healthcare Genetics and Genomics Program, School of Nursing Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2818-0344","authenticated-orcid":false,"given":"Jessica","family":"Klusek","sequence":"additional","affiliation":[{"name":"Communication Sciences and Disorders, Arnold School of Public Health University of South Carolina  Columbia South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5660-3594","authenticated-orcid":false,"given":"Linda D.","family":"Ward","sequence":"additional","affiliation":[{"name":"Healthcare Genetics and Genomics Program, School of Nursing Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8119-0472","authenticated-orcid":false,"given":"Diana","family":"Ivankovic","sequence":"additional","affiliation":[{"name":"Healthcare Genetics and Genomics Program, School of Nursing Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Powers","sequence":"additional","affiliation":[{"name":"Prisma Health  Greenville South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9001-5748","authenticated-orcid":false,"given":"Vijay","family":"Shankar","sequence":"additional","affiliation":[{"name":"Department of Genetics and Biochemistry, Center for Human Genetics Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5203-0744","authenticated-orcid":false,"given":"Rachel A.","family":"Lyman","sequence":"additional","affiliation":[{"name":"Department of Genetics and Biochemistry, Center for Human Genetics Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2312-7245","authenticated-orcid":false,"given":"Trudy F. C.","family":"Mackay","sequence":"additional","affiliation":[{"name":"Department of Genetics and Biochemistry, Center for Human Genetics Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Bridges","sequence":"additional","affiliation":[{"name":"Department of Mathematical Sciences Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2457-6226","authenticated-orcid":false,"given":"Katy","family":"Phelan","sequence":"additional","affiliation":[{"name":"Florida Cancer Specialists &amp; Research Institute  Fort Myers Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Curtis","family":"Rogers","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2017-4270","authenticated-orcid":false,"given":"Luigi","family":"Boccuto","sequence":"additional","affiliation":[{"name":"Healthcare Genetics and Genomics Program, School of Nursing Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1625-7404","authenticated-orcid":false,"given":"Sara M.","family":"Sarasua","sequence":"additional","affiliation":[{"name":"Healthcare Genetics and Genomics Program, School of Nursing Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,17]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s11689\u2010024\u201009572\u20107"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/1469-7610.00388"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010020\u201000761\u20101"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2023.104745"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s11689\u2010021\u201009370\u20105"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.2002.1199"},{"key":"e_1_2_12_8_1","volume-title":"Social Responsiveness Scale","author":"Constantino J. 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