Background: Neuropsychological tests of memory are believed to offer the greatest sensitivity at identifying people at the risk of developing dementia. There is a paucity of standardized and appropriate neuropsychological assessments of memory for adults with an intellectual disability. This study examines how adults with an intellectual disability perform on the Visual Association Test (VAT).
Methods: Forty participants (18-45 years) with intellectual disability, without a diagnosis of dementia, completed the VAT and subtests of the CAMCOG-DS. Correlational analysis of the test variables was carried out.
Results: All participants performed well on the VAT irrespective of age, gender or IQ. No significant correlations were found between the VAT and the subtests of the CAMCOG-DS.
Conclusions: The VAT was found to be an easy and quick test to use with people with intellectual disability and all participants scored above 'floor' level.
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http://dx.doi.org/10.1111/jar.12273 | DOI Listing |
J Neurotrauma
January 2025
Division of Neuroscience, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland, USA.
Effective team science requires procedural harmonization for rigor and reproducibility. Multicenter studies across experimental modalities (domains) can help accelerate translation. The Translational Outcomes Project in NeuroTrauma (TOP-NT) is a pre-clinical traumatic brain injury (TBI) consortium charged with establishing and validating noninvasive TBI assessment tools through team science.
View Article and Find Full Text PDFMov Disord
January 2025
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Objective: Pathogenic variants in B-cell receptor-associated protein (BCAP31) are associated with X-linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non-progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes one of the most abundant chaperones, with several functions including acting as a negative regulator of endoplasmic reticulum (ER) calcium ion (Ca) concentration.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Department of Pediatrics, Taihe County People's Hospital, Fuyang, Anhui, China.
Background: Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of brain disorders. Variants in the Rho-related BTB domain-containing 2 gene (RHOBTB2) can lead to DEE64, which is characterized by early-onset epilepsy, varying degrees of motor developmental delay and intellectual disability, microcephaly, and movement disorders. More than half of the variants are located at Arg483 and Arg511 within the BTB domain; however, the underlying mechanism of action of these hotspot variants remains unexplored.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder. Although individuals with variants in the SMC1A gene are less commonly seen in CdLS, they exhibit a high incidence of epilepsy and atypical phenotypic variability.
Methods: The clinical data of a patient with non-classic CdLS and epilepsy caused by an SMC1A variant were summarized.
Unlabelled: The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental disorders. However, most underlying gene discovery efforts have focused on individuals of European ancestry, limiting insights into genetic risks across diverse populations. To help address this, the Genomics of Autism in Latin American Ancestries Consortium (GALA) was formed, presenting here the largest sequencing study of ASD in Latin American individuals (n>15,000).
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