ArticleJournal of applied genetics2024
The role of multidisciplinary diagnostic and therapeutic model of care in Lamb-Shaffer syndrome - case report.
Article in Journal of applied genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Effectiveness of cognitive training on Lamb-Shaffer syndrome: a case report.Dementia & neuropsychologia · 2026Article
- Restoring Retinoic Acid: Alleviating Autism-Like Behaviors in Sox5-Deficient Mice.Neuroscience bulletin · 2025Article
- Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China.Orphanet journal of rare diseases · 2024Article
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Authors and funding
6 authors.
Funding
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Abstract
This case study illustrates a multidisciplinary diagnostic and therapeutic model of care for a 7-year-old male with Lamb-Shaffer syndrome (LAMSHF). LAMSHF is an ultra-rare genetic neurodevelopmental disorder, caused by heterozygous alterations in the SOX5 gene. An integrative model of therapy of cognitive functions and speech is described. The presented approach allows the development of language competences through stimulation of basic cognitive functions, which allows the learning of the abstract rules of an inflected language. A surprising, unexpected improvement in the cognitive functioning of the child was observed (both in terms of reasoning and speech), as well as an increase in his independence. The clinically important problem of the need for continued stimulation of cognitive development, in spite of the unfavourable prognosis associated with LAMSHF, is highlighted.
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Registered trials
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