{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T00:57:15Z","timestamp":1791593835418,"version":"4.3.4"},"reference-count":12,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,8,11]],"date-time":"2020-08-11T00:00:00Z","timestamp":1597104000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003246","name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["NWA 1160.18.320"],"award-info":[{"award-number":["NWA 1160.18.320"]}],"id":[{"id":"10.13039\/501100003246","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001826","name":"ZonMw","doi-asserted-by":"publisher","award":["91718310"],"award-info":[{"award-number":["91718310"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Witteveen\u2013Kolk syndrome (WITKOS) is a rare neurodevelopmental disorder characterized by developmental delay\/intellectual disability, facial dysmorphisms, and short stature. The syndrome is caused by loss of function of switch\u2010insensitive 3 transcription regulator family member A (<jats:italic>SIN3A<\/jats:italic>). Regarding behavioral functioning, Autism Spectrum Disorders (ASD), obsessive\u2013compulsive behaviors, as well as Attention\u2010Deficit\/Hyperactivity Disorder symptoms (ADHD) have been suggested. The present study explores various aspects of neurocognitive functioning in five individuals (age range 10\u201323) with WITKOS. Medical records and results of extensive neuropsychological assessment are used to describe developmental trajectories and neurocognitive profiles. Systematic analysis of medical records displays developmental difficulties described as ASD or ADHD in childhood, sleep problems and internalizing problems during adolescence. Results of cognitive assessments indicate profoundly disabled (<jats:italic>n<\/jats:italic> = 1), mildly disabled (<jats:italic>n<\/jats:italic> = 2), borderline (<jats:italic>n<\/jats:italic> = 1), and average (<jats:italic>n<\/jats:italic> = 1) levels of intelligence. Furthermore, results indicate weaknesses in speed of information processing\/sustained attention in all participants, and difficulties in planning and maintaining overview in three participants. Furthermore, parent reports of behavioral functioning primarily suggest problems in social functioning. Implications of both cognitive problems and social\u2013emotional vulnerabilities for counseling are discussed and supplemented with suggestions for interventions.<\/jats:p>","DOI":"10.1002\/ajmg.a.61775","type":"journal-article","created":{"date-parts":[[2020,8,12]],"date-time":"2020-08-12T05:36:17Z","timestamp":1597210577000},"page":"2384-2390","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Behavior and cognitive functioning in <scp>Witteveen\u2013Kolk<\/scp> syndrome"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4867-7267","authenticated-orcid":false,"given":"Linde C. M.","family":"van Dongen","sequence":"first","affiliation":[{"name":"Center of Excellence for Neuropsychiatry Vincent van Gogh Institute for Psychiatry  Venray The Netherlands"},{"name":"Donders Institute for Brain, Cognition and Behaviour Radboud University Nijmegen  Nijmegen The Netherlands"},{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen","family":"Wingberm\u00fchle","sequence":"additional","affiliation":[{"name":"Center of Excellence for Neuropsychiatry Vincent van Gogh Institute for Psychiatry  Venray The Netherlands"},{"name":"Donders Institute for Brain, Cognition and Behaviour Radboud University Nijmegen  Nijmegen The Netherlands"},{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"},{"name":"Stevig Specialized and Forensic Care for People with Intellectual Disability  Oostrum The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander J. M.","family":"Dingemans","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja G.","family":"Bos\u2010Roubos","sequence":"additional","affiliation":[{"name":"Center of Excellence for Neuropsychiatry Vincent van Gogh Institute for Psychiatry  Venray The Netherlands"},{"name":"Donders Institute for Brain, Cognition and Behaviour Radboud University Nijmegen  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0519-9218","authenticated-orcid":false,"given":"Karlijn","family":"Vermeulen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"},{"name":"Department for Intellectual Disabilities Karakter Child and Adolescent Psychiatry  Ede The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Pop\u2010Purceleanu","sequence":"additional","affiliation":[{"name":"Department of Psychiatry Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tjitske","family":"Kleefstra","sequence":"additional","affiliation":[{"name":"Donders Institute for Brain, Cognition and Behaviour Radboud University Nijmegen  Nijmegen The Netherlands"},{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos I. M.","family":"Egger","sequence":"additional","affiliation":[{"name":"Center of Excellence for Neuropsychiatry Vincent van Gogh Institute for Psychiatry  Venray The Netherlands"},{"name":"Donders Institute for Brain, Cognition and Behaviour Radboud University Nijmegen  Nijmegen The Netherlands"},{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"},{"name":"Stevig Specialized and Forensic Care for People with Intellectual Disability  Oostrum The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,11]]},"reference":[{"key":"e_1_2_9_2_1","unstructured":"American Association on Intellectual and Developmental Disabilities(2019).Definition of adaptive behavior. Retrieved fromhttp:\/\/aaidd.org\/intellectual-disability\/definition"},{"key":"e_1_2_9_3_1","volume-title":"Executive functions: What they are, how they work, and why they evolved","author":"Barkley R. A.","year":"2012"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/jir.12559"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/1469-7610.00235"},{"key":"e_1_2_9_6_1","volume-title":"Neuropsychological Assessment","author":"Lezak M. D.","year":"2012"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100499"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.09.014"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2016.09.004"},{"key":"e_1_2_9_10_1","unstructured":"Roelofs R. L.(2019).A clinical neuropsychological perspective on Noonan syndrome: From assessment to treatment (Doctoral dissertation). 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