Poster Abstracts


Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder caused by heterozygous variants in KMT2A. This study examines the learning concerns associated with WSS based on a parent-report screening measure. A total of 25 parents of children/adults with WSS (Mage=12.79 years, SD=7.89) completed the Colorado Learning Difficulties Questionnaire (CLDQ). Parent-ratings were compared to those from a large community sample to determine focal areas in Math, Reading and Spatial skills that may be more impaired within this clinical population. Parent-ratings on the Math (Mean Z=-3.01, SD=1.03) and Spatial scales (Mean Z=-2.52, SD=0.85) were significantly more elevated than that for Reading (Mean Z=-1.31, SD=1.46)(Wilcoxon sign rank test Z<-3.60, ps<0.001). Parent-ratings in Math items largely reflect a skewed distribution with most endorsing over three standard deviations below the community sample. In contrast, distributions of parent-ratings in Reading and Spatial domains were symmetric but flat. Ratings for Reading items yielded much larger variance, reflecting a wider range of performance variability. Overall, parent ratings on the CLDQ suggests more impairment in math and spatial skills among those with WSS, a pattern that is consistent with trends seen in our recent case series on the neuropsychological profile associated with the syndrome.

First AuthorRowena Ng
Second AuthorHans Tomas Bjornsson
Third AuthorJill A Fahrner
Fourth AuthorJacqueline Harris