Three generation families: Analysis of de novo variants in autism.

De novo variants (DNVs) analysis has proven to be a powerful approach to gene discovery in Autism Spectrum Disorder (ASD), which has not yet been shown in a Brazilian ASD cohort. The relevance of inherited rare variants has also been suggested, particularly in oligogenic models. We hypothesized that three-generation analyses of DNVs could provide new insights into the relevance of de novo and inherited variants across generations.

Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport.

Biallelic pathogenic variants in TBCK cause encephaloneuropathy, infantile hypotonia with psychomotor retardation, and characteristic facies 3 (IHPRF3). The molecular mechanisms underlying its neuronal phenotype are largely unexplored. In this study, we reported two sisters, who harbored biallelic variants in TBCK and met diagnostic criteria for IHPRF3.

Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.

Prediction of pathogenicity of rare copy number variations (CNVs), a genomic alteration known to contribute to the etiology of autism spectrum disorder (ASD), represents a serious limitation to interpreting genetic tests, particularly for genetic counseling purposes. Chromosomal microarray analysis (CMA) was conducted in a unique collection of 144 Brazilian individuals with ASD of strong European and African ancestries. Rare CNVs were detected in 39 patients: 41 of unknown significance (VUS), four pathogenic and one likely pathogenic CNVs (clinical yield of 4.

Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort.

Large genomic databases of neurodevelopmental disorders (NDD) are helpful resources of genomic variations in complex and heterogeneous conditions, as Autism Spectrum Disorder (ASD). We evaluated the role of rare copy number variations (CNVs) and exonic de novo variants, in a molecularly unexplored Brazilian cohort of 30 ASD trios (n = 90), by performing a meta-analysis of our findings in more than 20,000 patients from NDD cohorts. We identified three pathogenic CNVs: two duplications on 1q21 and 17p13, and one deletion on 4q35.

Association between language development and auditory processing disorders.

Introduction: It is crucial to understand the complex processing of acoustic stimuli along the auditory pathway; comprehension of this complex processing can facilitate our understanding of the processes that underlie normal and altered human communication.

Aim: To investigate the performance and lateralization effects on auditory processing assessment in children with specific language impairment (SLI), relating these findings to those obtained in children with auditory processing disorder (APD) and typical development (TD).

Material And Methods: Prospective study.

Influence of memory, attention, IQ and age on auditory temporal processing tests: preliminary study.

Purpose: To investigate the existence of correlations between the performance of children in auditory temporal tests (Frequency Pattern and Gaps in Noise--GIN) and IQ, attention, memory and age measurements.

Method: Fifteen typically developing individuals between the ages of 7 to 12 years and normal hearing participated in the study. Auditory temporal processing tests (GIN and Frequency Pattern), as well as a Memory test (Digit Span), Attention tests (auditory and visual modality) and intelligence tests (RAVEN test of Progressive Matrices) were applied.

Memory span measured by the spatial span tests of the Cambridge Neuropsychological Test Automated Battery in a group of Brazilian children and adolescents.

Unlabelled: The neuropsychological tests of spatial span are designed to measure attention and working memory. The version of the spatial span test in the Cambridge Neuropsychological Test Automated Battery (CANTAB) evaluates these functions through the recall of sequences of spatial locations presented to the subject.

Objective: The present study investigated how age, gender and educational level might affect the performance of the non-verbal system.

Neuropsychological alterations in mercury intoxication persist several years after exposure.

Unlabelled: Elemental mercury is a liquid toxic metal widely used in industry. Occupational exposure occurs mainly via inhalation. Previously, neuropsychological assessment detected deficits in former workers of a fluorescent lamp plant who had been exposed to elemental mercury vapor and were away from exposure for several years at the time of examination.