Impaired social functioning is a well-known outcome of individuals with agenesis of the corpus callosum. Social deficits in nonliteral language comprehension, humor, social reasoning, and recognition of facial expression have all been documented in adults with agenesis of the corpus callosum. In the present study, we examined the emotional and mentalizing deficits that contributing to the social-cognitive development in children with isolated corpus callosum agenesia, including emotion recognition, theory of mind, executive function, working memory, and behavioral impairments as assessed by the parents. The study involved children between the age of 6 and 8 years along with typically developing children who were matched by IQ, age, gender, education, and caregiver's education. The findings indicated that children with agenesis of the corpus callosum exhibited mild impairments in all social factors (recognizing emotions, understanding theory of mind), and showed more behavioral problems than control children. Taken together, these findings suggest that reduced callosal connectivity may contribute to the development of higher-order social-cognitive deficits, involving limits of complex and rapidly occurring social information to be processed. The studies of AgCC shed lights of the role of structural connectivity across the hemispheres in neurodevelopmental disorders.
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http://dx.doi.org/10.3389/fpsyg.2017.00094 | DOI Listing |
Cureus
December 2024
Department of Neurosurgery, University of Tsukuba Hospital, Tsukuba, JPN.
Dysprosody affects rhythm and intonation in speech, resulting in the impairment of emotional or attitude expression, and usually presents as a negative symptom resulting in a monotonous tone. We herein report a rare case of recurrent glioblastoma (GBM) with dysprosody featuring sing-song speech. A 68-year-old man, formerly left-handed, with right temporal GBM underwent gross total resection.
View Article and Find Full Text PDFMol Genet Genomic Med
February 2025
Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.
Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures.
Methods And Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in the FUCA1 gene.
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
View Article and Find Full Text PDFCell Mol Biol Lett
January 2025
University Cote d'Azur, Inserm, C3M, Nice, France.
Vacuolization of hematopoietic precursors cells is a common future of several otherwise non-related clinical settings such as VEXAS, Chediak-Higashi syndrome and Danon disease. Although these disorders have a priori nothing to do with one other from a clinical point of view, all share abnormal vacuolization in different cell types including cells of the erythroid/myeloid lineage that is likely the consequence of moderate to drastic dysfunctions in the ubiquitin proteasome system and/or the endo-lysosomal pathway. Indeed, the genes affected in these three diseases UBA1, LYST or LAMP2 are known to be direct or indirect regulators of lysosome trafficking and function and/or of different modes of autophagy.
View Article and Find Full Text PDFBr J Hosp Med (Lond)
January 2025
Aberdeen Biomedical Imaging Centre, University of Aberdeen, Aberdeen, UK.
Previous research has shown that smoking tobacco is associated with changes or differences in brain volume and cortical thickness, resulting in a smaller brain volume and decreased cortical thickness in smokers compared with non-smokers. However, the effects of smokeless tobacco on brain volume and cortical thickness remain unclear. This study aimed to investigate whether the use of shammah, a nicotine-containing smokeless tobacco popular in Middle Eastern countries, is associated with differences in brain volume and thickness compared with non-users and to assess the influence of shammah quantity and type on these effects.
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