{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T11:29:42Z","timestamp":1766748582266,"version":"3.41.2"},"reference-count":51,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,5,19]],"date-time":"2025-05-19T00:00:00Z","timestamp":1747612800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J intellect Disabil Res"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Challenging behaviours such as self\u2010injury and aggression are prevalent among individuals with intellectual disability (ID), significantly impacting quality of life. Cardiofaciocutaneous syndrome (CFCS), a rare multisystem genetic disorder caused by variants in the <jats:italic>BRAF<\/jats:italic>, <jats:italic>MAP2K1<\/jats:italic>, <jats:italic>MAP2K2<\/jats:italic>, or <jats:italic>KRAS<\/jats:italic> genes, commonly presents with ID and other neurobehavioural features. To inform effective clinical management, we aimed to characterise and quantify challenging and repetitive behaviours in CFCS, identify functions that may maintain the behaviours, and examine associations with genotype and neurological comorbidities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this cross\u2010sectional cohort study, caregivers of 61 individuals with CFCS (mean age\u2009=\u200914.2\u2009years; 61% female) completed an electronic survey to capture information regarding demographics, adaptive skills, and neurological history. Genotype was determined from molecular genetic testing results. The frequency, severity, topography, and function of challenging behaviours were assessed with behaviour questionnaires validated for children and adults with developmental disabilities. We evaluated trends using descriptive analyses and examined mean differences across age, genotype, and neurological variables.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The cohort consisted primarily of individuals with <jats:italic>BRAF<\/jats:italic> variants (62%), followed by <jats:italic>MAP2K1<\/jats:italic> (28%) and <jats:italic>MAP2K2<\/jats:italic> (10%) variants. Prevalence of challenging behaviour was high (77%), and self\u2010injurious and aggressive behaviours were most frequent and severe among adolescents with CFCS relative to younger children or adults. Escape (seeking to avoid an unwanted situation or task) was the most endorsed behavioural function to maintain self\u2010injurious and aggressive\/destructive behaviours. <jats:italic>BRAF<\/jats:italic> gene variants were associated with the most frequent and variable challenging behaviours, followed by <jats:italic>MAP2K1<\/jats:italic>, and then <jats:italic>MAP2K2<\/jats:italic>. Challenging and repetitive behaviours were most prevalent among individuals with moderate adaptive functioning, clinically significant sleep disturbance, higher levels of pain interference, and more substantial sensory modulation differences. Individuals with epilepsy also exhibited more frequent repetitive and self\u2010injurious behaviours.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Caregivers reported a high prevalence of challenging behaviours among individuals with CFCS, especially in late childhood and adolescence. Therapeutic approaches to address challenging behaviours are needed to optimally support individuals with CFCS and their caregivers.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jir.13247","type":"journal-article","created":{"date-parts":[[2025,5,19]],"date-time":"2025-05-19T08:20:53Z","timestamp":1747642853000},"page":"682-692","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome"],"prefix":"10.1111","volume":"69","author":[{"given":"Dante\u00a0J.","family":"Rogers","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Minnesota Medical School  Minneapolis USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebekah\u00a0L.","family":"Hudock","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Minnesota Medical School  Minneapolis USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adele\u00a0F.","family":"Dimian","sequence":"additional","affiliation":[{"name":"Institute on Community Integration University of Minnesota  Minneapolis USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josue","family":"Collazo\u2010Lopez","sequence":"additional","affiliation":[{"name":"Ponce Health Sciences University School of Medicine  Ponce Puerto Rico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryan","family":"Shanley","sequence":"additional","affiliation":[{"name":"Clinical and Translational Science Institute University of Minnesota  Minneapolis USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7555-8613","authenticated-orcid":false,"given":"Elizabeth\u00a0I.","family":"Pierpont","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Minnesota Medical School  Minneapolis USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,5,19]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36374"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30295"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102788.2010.01337.x"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2020.103718"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/PR9.0000000000000666"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005596502855"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40474\u2010019\u201000175\u20109"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjc.12118"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803\u2010020\u201004625\u2010x"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32488"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102788.2008.01060.x"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803\u2010019\u201004002\u20103"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102788.2011.01390.x"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.256"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cpr.2022.102158"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803\u2010012\u20101497\u20109"},{"volume-title":"Sensory Profile 2 Manual","year":"2014","author":"Dunn W.","key":"e_1_2_9_18_1"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0891\u20104222(00)00061\u20105"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1177\/1049909109346165"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803\u2010008\u20100599\u2010x"},{"key":"e_1_2_9_22_1","unstructured":"European Network on Noonan syndrome and related disorders.2024.NSEuroNet[Dataset]. 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