{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T09:43:50Z","timestamp":1771494230856,"version":"3.50.1"},"reference-count":34,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,11,27]],"date-time":"2022-11-27T00:00:00Z","timestamp":1669507200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J intellect Disabil Res"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Wiedemann\u2013Steiner syndrome (WSS) is a rare genetic disorder caused by heterozygous variants in <jats:italic>KMT2A<\/jats:italic>. To date, the cognitive profile associated with WSS remains largely unknown, although emergent case series implicate increased risk of non\u2010verbal reasoning and visual processing deficits. This study examines the academic and learning concerns associated with WSS based on a parent\u2010report screening measure.<\/jats:p><\/jats:sec><jats:sec><jats:title>Participants and Methods<\/jats:title><jats:p>A total of 25 parents of children\/adults with a molecularly\u2010confirmed diagnosis of WSS (mean age\u00a0=\u00a012.85\u00a0years, SD\u00a0=\u00a07.82) completed the Colorado Learning Difficulties Questionnaire (CLDQ), a parent\u2010screening measure of learning and academic difficulties. Parent ratings were compared to those from a normative community sample to determine focal areas in Math, Reading and Spatial skills that may be weaker within this clinical population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>On average, parent ratings on the Math (mean Z\u00a0=\u00a0\u20103.08, SD\u00a0=\u00a00.87) and Spatial scales (mean Z\u00a0=\u00a0\u20102.52, SD\u00a0=\u00a00.85) were significantly more elevated than that of Reading (mean Z\u00a0=\u00a0\u20101.31, SD\u00a0=\u00a01.46) (Wilcoxon sign rank test Z\u00a0&lt;\u00a0\u22123.83, <jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.001), reflecting relatively more challenges observed in these areas. Distribution of parent ratings in Math items largely reflect a positively skewed distribution with most endorsing over three standard deviations below a community sample. In contrast, distributions of parent ratings in Reading and Spatial domains were more symmetric but flat. Ratings for Reading items yielded much larger variance than the other two domains, reflecting a wider range of performance variability.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Parent ratings on the CLDQ suggest more difficulties with Math and Spatial skills among those with WSS within group and relative to a community sample. Study results are consistent with recent case reports on the neuropsychological profile associated with WSS and with Kabuki syndrome, which is caused by variants in the related gene <jats:italic>KMT2D<\/jats:italic>. Findings lend support for overlapping cognitive patterns across syndromes, implicating potential common disease pathogenesis.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jir.12993","type":"journal-article","created":{"date-parts":[[2022,11,28]],"date-time":"2022-11-28T05:57:11Z","timestamp":1669615031000},"page":"101-111","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Unique profile of academic learning difficulties in Wiedemann\u2013Steiner syndrome"],"prefix":"10.1111","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7193-4300","authenticated-orcid":false,"given":"R.","family":"Ng","sequence":"first","affiliation":[{"name":"Kennedy Krieger Institute  MD Baltimore USA"},{"name":"Department of Psychiatry and Behavioral Sciences Johns Hopkins University School of Medicine  Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. T.","family":"Bjornsson","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore MD USA"},{"name":"Department of Pediatrics Johns Hopkins University School of Medicine  Baltimore MD USA"},{"name":"Faculty of Medicine University of Iceland  Reykjavik Iceland"},{"name":"Department of Genetics and Molecular Medicine Landspitali University Hospital  Reykjavik Iceland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. A.","family":"Fahrner","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore MD USA"},{"name":"Department of Pediatrics Johns Hopkins University School of Medicine  Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8465-2142","authenticated-orcid":false,"given":"J.","family":"Harris","sequence":"additional","affiliation":[{"name":"Kennedy Krieger Institute  MD Baltimore USA"},{"name":"Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore MD USA"},{"name":"Department of Pediatrics Johns Hopkins University School of Medicine  Baltimore MD USA"},{"name":"Department of Neurology Johns Hopkins University School of Medicine  Baltimore MD 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