ArticleJournal of the International Neuropsychological Society : JINS2023
Individuals with Wiedemann-Steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparing.
Article in Journal of the International Neuropsychological Society : JINS, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Who cites it
9 citing papers in PubMed, 18 citations in OpenAlex.
- Neuronal Heterotopy in a Patient with Wiedemann-Steiner Syndrome Caused by a TruncatingReports (MDPI) · 2026Article
- Diagnosis and recombinant human growth hormone treatment of Wiedemann-Steiner syndrome: discovery of novel KMT2A variants and review of existing literature.BMC pediatrics · 2025Review
- Behavioral profiles and social relationships in Wiedemann-Steiner syndrome: parent reports on 25 cases.Orphanet journal of rare diseases · 2025Article
- Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?Human genetics · 2024Article
- Associations Between Executive Functioning, Behavioral Functioning, and Adaptive Functioning Difficulties in Wiedemann-Steiner Syndrome.Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists · 2024Article
- Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery.Journal of neurodevelopmental disorders · 2023Review
- Unique profile of academic learning difficulties in Wiedemann-Steiner syndrome.Journal of intellectual disability research : JIDR · 2023Article
- Wiedemann-Steiner Syndrome: Case Report and Review of Literature.Children (Basel, Switzerland) · 2022Article
- Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome.Frontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
Abstract
objectivesWiedemann-Steiner syndrome (WSS) is a rare Mendelian disorder of the epigenetic machinery caused by heterozygous pathogenic variants in
methodsThis study involves a retrospective medical chart review of 10 pediatric patients, each with a molecularly confirmed diagnosis of WSS who underwent clinical neuropsychological evaluation at an academic medical center.
resultsThe majority of patients performed in the below average to very low ranges in Nonverbal Reasoning, Visual/Spatial Perception, Visuoconstruction, Visual Memory, Attention, Working Memory and Math Computation skills. In contrast, over half the sample performed within normal limits on Receptive Vocabulary, Verbal Memory, and Word Reading. Wilcoxon signed rank test showed weaker Nonverbal versus Verbal Reasoning skills (
conclusionsNonverbal reasoning/memory, visuospatial/construction, attention, working memory, executive functioning, and math computation skills are areas of weakness among those with WSS. These findings overlap with research on Kabuki syndrome, which is caused by variants in
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.