Unique profile of academic learning difficulties in Wiedemann–Steiner syndrome.
Background: Wiedemann–Steiner syndrome (WSS) is a rare genetic disorder caused by heterozygous variants in KMT2A. To date, the cognitive profile associated with WSS remains largely unknown, although emergent case series implicate increased risk of non‐verbal reasoning and visual processing deficits....
| Publicado en: | Journal of Intellectual Disability Research Vol. 67; no. 2; pp. 101 - 112 |
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| Autores principales: | , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Wiley-Blackwell
Feb2023
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=161228990&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 161228990 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 09642633 EUL jtl: Journal of Intellectual Disability Research issn: 09642633 maglogo: Y pubinfo: dt: Feb2023 vid: 67 iid: 2 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 161228990 160416465 161228990 161228990 10.1111/jir.12993 161228990 ppf: 101 ppct: 11 formats: fmt: – @attributes: type: T – @attributes: type: C – @attributes: type: P tig: atl: Unique profile of academic learning difficulties in Wiedemann–Steiner syndrome. aug: au: Ng, R. Bjornsson, H. T. Fahrner, J. A. Harris, J. affil: Kennedy Krieger Institute, MD, Baltimore, USA sug: subj: Learning Disorders Child Development Disorders Genetic Screening Parental Attitudes Genetic Diseases, X-Linked Human Parents of Children with Disabilities Child, Preschool Child Adolescence Wilcoxon Rank Sum Test Questionnaires Record Review Funding Source Child, Preschool: 2-5 years Child: 6-12 years Adolescent: 13-18 years ab: Background: Wiedemann–Steiner syndrome (WSS) is a rare genetic disorder caused by heterozygous variants in KMT2A. To date, the cognitive profile associated with WSS remains largely unknown, although emergent case series implicate increased risk of non‐verbal reasoning and visual processing deficits. This study examines the academic and learning concerns associated with WSS based on a parent‐report screening measure. Participants and Methods: A total of 25 parents of children/adults with a molecularly‐confirmed diagnosis of WSS (mean age = 12.85 years, SD = 7.82) completed the Colorado Learning Difficulties Questionnaire (CLDQ), a parent‐screening 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. Results: On average, parent ratings on the Math (mean Z = ‐3.08, SD = 0.87) and Spatial scales (mean Z = ‐2.52, SD = 0.85) were significantly more elevated than that of Reading (mean Z = ‐1.31, SD = 1.46) (Wilcoxon sign rank test Z < −3.83, P < 0.001), 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. Conclusions: 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 KMT2D. Findings lend support for overlapping cognitive patterns across syndromes, implicating potential common disease pathogenesis. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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