5p deletion syndrome is a rare genetic condition associated with severe speech and language problems. In general, research on speech and language skills is scarce, but there is more knowledge on phonetic and phonological skills than on lexical and grammatical skills. And till now no studies have addressed the relationship between grammar and vocabulary. Therefore, in this study, we address aspects of this relation based on longitudinal parent-reported data (MacArthur-Bates Communicative Development Inventories) from two children with this syndrome aged 2;0-7;3, and 1;11-7;1, respectively. We examine the development of the vocabulary size in each child, seen in relation to the development of grammar (inflections, combinations of words, complexity, and productivity), and see to what extent they can be compared to typically developing children. Results show that they follow a similar pattern to typically developing children but are delayed and have slightly different individual profiles.
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http://dx.doi.org/10.1080/02699206.2024.2359461 | DOI Listing |
Pediatr Int
January 2025
Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan.
Bioessays
January 2025
Centre for Regenerative Medicine, Institute of Regeneration and Repair, The University of Edinburgh, Edinburgh, Scotland, UK.
Clin Exp Pediatr
January 2025
Nationwide Children's Hospital, Columbus, United States.
Adenomatous Polyposis Coli (APC) is a tumor suppressor gene expressed throughout the body. APC mutations increase the risk of malignancy and are often characterized by syndromes that encompass a spectrum of neoplastic manifestations, such as familial adenomatous polyposis (FAP). We present a rare case of palatal peripheral nerve sheath tumor in the context of APC gene mutation.
View Article and Find Full Text PDFNephrol Dial Transplant
January 2025
Department of Nephrology, Kidney Transplantation and Dialysis, CHU Lille, University of Lille, Lille, France.
Background And Hypothesis: Unlike X-linked or autosomal recessive Alport Syndrome, no clear genotype/phenotype correlation has yet been demonstrated in patients carrying a single variant of COL4A3 or COL4A4.
Methods: We carried out a multicenter retrospective study to assess the risk factors involved in renal survival in patients presenting a single pathogenic variant on COL4A3 or COL4A4.
Results: 97 patients presenting a single pathogenic variant of COL4A3 or COL4A4 were included.
Adv Biol Regul
December 2024
Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Bologna, Italy.
TP53 is normally a tumor suppressor. However, it is mutated in at least 50% of human cancers. Usually, we assume that mutation of the TP53 is associated with loss of sensitivity to various drugs as in most cases wild type (WT) TP53 activity is lost.
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