{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T19:17:35Z","timestamp":1774552655327,"version":"3.50.1"},"reference-count":46,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,7,5]],"date-time":"2024-07-05T00:00:00Z","timestamp":1720137600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This study investigated the neurodevelopmental impact of pathogenic adenomatous polyposis coli (<jats:italic>APC<\/jats:italic>) gene variants in patients with familial adenomatous polyposis (FAP), a cancer predisposition syndrome. We hypothesized that certain pathogenic APC variants result in behavioral\u2013cognitive challenges. We compared 66 FAP patients (cases) and 34 unaffected siblings (controls) to explore associations between APC variants and behavioral and cognitive challenges. Our findings indicate that FAP patients exhibited higher Social Responsiveness Scale (SRS) scores, suggesting a greater prevalence of autistic traits when compared to unaffected siblings (mean 53.8 vs. 47.4, Wilcoxon <jats:italic>p<\/jats:italic>\u2009=\u20090.018). The distribution of SRS scores in cases suggested a bimodal pattern, potentially linked to the location of the APC variant, with scores increasing from the 5\u2032 to 3\u2032 end of the gene (Pearson's <jats:italic>r<\/jats:italic>\u2009=\u20090.33, <jats:italic>p<\/jats:italic>\u2009=\u20090.022). While we observed a trend toward lower educational attainment in cases, this difference was not statistically significant. This study is the first to explore the connection between APC variant location and neurodevelopmental traits in FAP, expanding our understanding of the genotype\u2013phenotype correlation. Our results emphasize the importance of clinical assessment for autistic traits in FAP patients, shedding light on the potential role of <jats:italic>APC<\/jats:italic> gene variants in these behavioral and cognitive challenges.<\/jats:p>","DOI":"10.1002\/ajmg.b.32999","type":"journal-article","created":{"date-parts":[[2024,7,5]],"date-time":"2024-07-05T15:26:44Z","timestamp":1720193204000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Autistic traits in youth with familial adenomatous polyposis: A Dutch\u2013Canadian case\u2013control study"],"prefix":"10.1002","volume":"195","author":[{"given":"Polina Perlman","family":"Danieli","sequence":"first","affiliation":[{"name":"Department of Psychiatry The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Psychiatry, Temerty Faculty of Medicine University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ny","family":"Hoang","sequence":"additional","affiliation":[{"name":"Department of Genetic Counselling The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Program in Genetics and Genome Biology The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Molecular Genetics University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thanuja","family":"Selvanayagam","sequence":"additional","affiliation":[{"name":"Department of Genetic Counselling The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Program in Genetics and Genome Biology The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alvin","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Psychiatry The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"The Familial Gastrointestinal Cancer Registry at the Zane Cohen Centre for Digestive Diseases Mount Sinai Hospital  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elemi","family":"Breetvelt","sequence":"additional","affiliation":[{"name":"Department of Psychiatry The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Psychiatry, Temerty Faculty of Medicine University of Toronto  Toronto Ontario Canada"},{"name":"Program in Genetics and Genome Biology The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Merit","family":"Tabbers","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Emma Children's Hospital  Amsterdam The Netherlands"},{"name":"Department of Pediatric Gastroenterology, Hepatology and Nutrition, Emma Children's Hospital, Amsterdam Reproduction and Development and Amsterdam Gastroenterology Endocrinology Metabolism Research Institutes Amsterdam University Medical Centers  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Cohen","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology Amsterdam UMC Location University of Amsterdam  Amsterdam The Netherlands"},{"name":"Cancer Center Amsterdam  Amsterdam The Netherlands"},{"name":"Department of Gastroenterology &amp; Hepatology Amsterdam University Medical Centers  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arthur S.","family":"Aelvoet","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology Amsterdam UMC Location University of Amsterdam  Amsterdam The Netherlands"},{"name":"Cancer Center Amsterdam  Amsterdam The Netherlands"},{"name":"Department of Gastroenterology &amp; Hepatology Amsterdam University Medical Centers  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brett","family":"Trost","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Ward","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics University of Toronto  Toronto Ontario Canada"},{"name":"The Familial Gastrointestinal Cancer Registry at the Zane Cohen Centre for Digestive Diseases Mount Sinai Hospital  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kara","family":"Semotiuk","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics University of Toronto  Toronto Ontario Canada"},{"name":"The Familial Gastrointestinal Cancer Registry at the Zane Cohen Centre for Digestive Diseases Mount Sinai Hospital  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carol","family":"Durno","sequence":"additional","affiliation":[{"name":"The Familial Gastrointestinal Cancer Registry at the Zane Cohen Centre for Digestive Diseases Mount Sinai Hospital  Toronto Ontario Canada"},{"name":"Division of Gastroenterology\/Hepatology &amp; Nutrition The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Paediatrics University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melyssa","family":"Aronson","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics University of Toronto  Toronto Ontario Canada"},{"name":"The Familial Gastrointestinal Cancer Registry at the Zane Cohen Centre for Digestive Diseases Mount Sinai Hospital  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zane","family":"Cohen","sequence":"additional","affiliation":[{"name":"The Familial Gastrointestinal Cancer Registry at the Zane Cohen Centre for Digestive Diseases Mount Sinai Hospital  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelien","family":"Dekker","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology Amsterdam UMC Location University of Amsterdam  Amsterdam The Netherlands"},{"name":"Cancer Center Amsterdam  Amsterdam The Netherlands"},{"name":"Department of Gastroenterology &amp; Hepatology Amsterdam University Medical Centers  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacob","family":"Vorstman","sequence":"additional","affiliation":[{"name":"Department of Psychiatry The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Department of Psychiatry, Temerty Faculty of Medicine University of Toronto  Toronto Ontario Canada"},{"name":"Program in Genetics and Genome Biology The Hospital for Sick Children  Toronto Ontario Canada"},{"name":"Developmental Psychopathology The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,7,5]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2215-12.2012"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13053-016-0060-7"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.4.312"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2003.09.118"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.14-05-03059.1994"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.2174\/156652407779940404"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ibneur.2021.09.007"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1025014929212"},{"key":"e_1_2_10_10_1","unstructured":"Constantino J. N. &Gruber C.(2012).Social responsiveness scale second edition (SRS\u20102): Manual. Published online."},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13053-020-0135-3"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.5858\/arpa.2018-0570-RA"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pon.1570"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pon.1716"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/DCR.0b013e318245645a"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/jjco\/hyd017"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejcb.2022.151228"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2010.10.006"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.114"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.108.091967"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10555-017-9725-6"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(13)61539-1"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2020.09.026"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0163-8343(92)90027-8"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pathol.2017.09.004"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2014.61"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-017-0113-8"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000005000"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes14071505"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1572-0241.2001.04674.x"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/ceo.13643"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcn.2008.02.006"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0983-10.2010"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1177\/1362361320942981"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-017-0035-5"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21218018"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3461"},{"key":"e_1_2_10_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature07456"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13053-017-0065-x"},{"key":"e_1_2_10_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41439-024-00270-3"},{"key":"e_1_2_10_41_1","unstructured":"Team R. (2013).R: A language and environment for statistical computing. Published online."},{"key":"e_1_2_10_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2018.01.015"},{"key":"e_1_2_10_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2022.10.009"},{"key":"e_1_2_10_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.schres.2012.10.010"},{"key":"e_1_2_10_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0481-0"},{"key":"e_1_2_10_46_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djw332"},{"key":"e_1_2_10_47_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30415"}],"container-title":["American Journal of Medical Genetics Part B: Neuropsychiatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.32999","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,6]],"date-time":"2024-11-06T06:06:00Z","timestamp":1730873160000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.32999"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,5]]},"references-count":46,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["10.1002\/ajmg.b.32999"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.32999","archive":["Portico"],"relation":{},"ISSN":["1552-4841","1552-485X"],"issn-type":[{"value":"1552-4841","type":"print"},{"value":"1552-485X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,5]]},"assertion":[{"value":"2024-03-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e32999"}}