The role of multidisciplinary diagnostic and therapeutic model of care in Lamb-Shaffer syndrome - case report.

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.

Developmental dyslexia in children with perinatal exposure to hypoxia: A systematic review.

BACKGROUND: Research on a health-related event at the stage of labour and the occurrence of adverse outcomes at the school age has provided inconclusive results. Thus far, no systematic reviews have been conducted. Thus, the objective of this study is to investigate the association between hypoxia during pregnancy or delivery and the subsequent occurrence of a developmental dyslexia in school-age children. METHODS: We used a standard search strategy of electronic databases (PubMed, PsycINFO, Web of Science, EMBASE, and Cochrane Library) and handsearching. We included observational studies (cohort studies, case-control studies) that consider as an exposure the presence of hypoxia during pregnancy or delivery, and as an outcome, developmental dyslexia in school-age children. Two reviewers independently conducted the search and determined eligibility, which was not restricted by language or year of publication. RESULTS: The search took place until 1 April 2023. Of the 1,336 abstracts screened, 6 were assessed for eligibility. Of the six eligible studies, no studies met the pre-specified eligibly criteria. CONCLUSIONS: We were unable to assess the association between hypoxia and developmental dyslexia, as no eligible studies were found. Thus, the association between hypoxia during pregnancy or delivery and dyslexia in school-age children remains unknown.