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Unique profile of academic learning difficulties in Wiedemann–Steiner syndrome

Unique profile of academic learning difficulties in Wiedemann–Steiner syndrome


Title: Unique profile of academic learning difficulties in Wiedemann–Steiner syndrome
Author: Ng, R.
Björnsson, Hans Tómas
Fahrner, Jill A.
Harris, Jacqueline R.
Date: 2022-11-27
Language: English
Scope:
Department: Faculty of Medicine
Clinical Laboratory Services, Diagnostics and Blood Bank
Series: Journal of Intellectual Disability Research; ()
ISSN: 0964-2633
DOI: https://doi.org/10.1111/jir.12993
Subject: Lífefna- og sameindalíffræði; genetics/genetic disorders; KMT2A; learning disorders; math; spatial processing; Wiedemann–Steiner syndrome; Rehabilitation; Arts and Humanities (miscellaneous); Neurology; Neurology (clinical); Psychiatry and Mental Health
URI: https://hdl.handle.net/20.500.11815/3720

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Citation:

Ng , R , Björnsson , H T , Fahrner , J A & Harris , J R 2022 , ' Unique profile of academic learning difficulties in Wiedemann–Steiner syndrome ' , Journal of Intellectual Disability Research . https://doi.org/10.1111/jir.12993

Abstract:

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.

Description:

Funding Information: R.N. and H.T.B. are supported by grants from the Wiedemann‐Steiner Syndrome Foundation. J.A.F. acknowledges support from The Hartwell Foundation (Individual Biomedical Research Award) and the National Institute of Child Health and Development (NICHD)(K08HD086250). J.H. acknowledges support from the NICHD (K23HD101646). R.N. also received research support from NICHD (P50HD103538). Publisher Copyright: © 2022 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd. © 2022 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

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