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Autistic traits have been reported in PACS1\u2010NDD, but systematic longitudinal assessments are lacking. We followed five children (3 females) with genetically confirmed PACS1\u2010NDD, aged 1.4\u20136.2\u2009years at entry, over 2\u20133.5\u2009years (29 assessments). Measures included standardized behavioral and cognitive assessments, eye\u2010tracking, and structural MRI. Data were compared to 357 autistic and 123 typically developing children from a longitudinal cohort. Children with PACS1\u2010NDD showed global developmental delays with heterogeneous trajectories. Adaptive and communication profiles overlapped with autistic children, while motor impairments were more pronounced. Vocabulary and grammar were delayed, but pragmatic skills were relatively preserved. All children with PACS1\u2010NDD exhibited autistic traits with elevated restricted and repetitive behaviors and milder social\u2010communication difficulties. ADHD symptoms were subthreshold and predominantly inattentive. Eye\u2010tracking revealed preserved social interest but reduced gaze typicality in naturalistic contexts. MRI showed globally reduced gray and white matter volumes. These findings provide the first longitudinal, multimodal characterization of PACS1\u2010NDD, informing clinical care and targeted outcome measures for therapeutic trials, and highlighting the need for larger studies to validate and extend these findings.<\/jats:p>","DOI":"10.1111\/cge.70204","type":"journal-article","created":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T01:22:02Z","timestamp":1783041722000},"page":"347-357","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Phenotypic Characterization of Five Children With\n                    <scp>PACS1<\/scp>\n                    \u2010\n                    <scp>NDD<\/scp>\n                    : Longitudinal Insights Into Development, Behavior, and Brain"],"prefix":"10.1111","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-8269-3765","authenticated-orcid":false,"given":"Fiona","family":"Journal","sequence":"first","affiliation":[{"name":"Department of Psychiatry, Faculty of Medicine University of Geneva  Geneva Switzerland"},{"name":"Faculty of Psychology and Science of Education (FAPSE) University of Geneva  Geneva Switzerland"},{"name":"Fondation P\u00f4le Autisme  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0116-2485","authenticated-orcid":false,"given":"Nada","family":"Kojovic","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Faculty of Medicine University of Geneva  Geneva Switzerland"},{"name":"Faculty of Psychology and Science of Education (FAPSE) University of Geneva  Geneva Switzerland"},{"name":"Fondation P\u00f4le Autisme  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0264-4048","authenticated-orcid":false,"given":"Kenza","family":"Latr\u00e8che","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Faculty of Medicine University of Geneva  Geneva Switzerland"},{"name":"Fondation P\u00f4le Autisme  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Solazzo","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Faculty of Medicine University of Geneva  Geneva Switzerland"},{"name":"Fondation P\u00f4le Autisme  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8479-6365","authenticated-orcid":false,"given":"Marie","family":"Schaer","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Faculty of Medicine University of Geneva  Geneva Switzerland"},{"name":"Fondation P\u00f4le Autisme  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,2]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.013"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092\u20108674(00)81420\u20108"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.5935\/0004\u20102749.20220013"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000526975"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm12124052"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37476"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010021\u201002001\u20101"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2023.09.023"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12956"},{"key":"e_1_2_13_11_1","volume-title":"GeneReviews","author":"Lusk L.","year":"2020"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12050738"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.4897"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63232"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23179649"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2021.10.010"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12544"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes16020227"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.30486"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1177\/13623613241253015"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s11689\u2010021\u201009412\u2010y"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci11060692"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/aur.3188"},{"key":"e_1_2_13_24_1","volume-title":"Vineland Adaptive Behavior Scales","author":"Sparrow S. 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