Unique profile of academic learning difficulties in Wiedemann-Steiner syndrome.
Kids with Wiedemann-Steiner syndrome show steeper math and spatial deficits than reading—screen these domains early and target them in educational plans.
01Research in Context
What this study did
Doctors asked parents to rate the school skills of kids with Wiedemann-Steiner syndrome. They looked at reading, math, and spatial tasks like puzzles or building blocks. The study is a small case series, so it paints a picture rather than testing a treatment.
What they found
Parents said math and spatial work were far harder than reading for their children. Math scores fell more than three standard deviations below the community average. Reading problems were milder and showed up less often.
How this fits with other research
Van Herwegen et al. (2020) saw a similar math dip in Williams syndrome, but counting small sets stayed strong. Subramaniam et al. (2023) now show Wiedemann-Steiner kids hit a wall even in basic number work.
Pieters et al. (2012) found kids with DCD lag one to two years in math facts. The Wiedemann-Steiner group lags even more, suggesting a steeper slope for this rare syndrome.
Wei et al. (2023) report autistic eighth-graders shine at visuospatial math yet stumble on word problems. Wiedemann-Steiner learners show the opposite: weak visuospatial and math skills across the board. The two studies sit side-by-side, not in conflict, because each maps a different genetic condition.
Why it matters
If you serve a child with Wiedemann-Steiner syndrome, screen math and spatial skills early even when reading looks okay. Write IEP goals that tackle number sense, mental rotation, and block design alongside language targets. Borrow evidence-based math drills from DCD and Williams work, but plan for more repetitions and concrete manipulatives.
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02At a glance
03Original 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.
Journal of intellectual disability research : JIDR, 2023 · doi:10.1111/jir.12993