4q21.2q21.3 Duplication: Molecular and Neuropsychological Aspects.

4q21.2q21.3 Duplication: Molecular and Neuropsychological Aspects. Curr Genomics. 2018 Apr;19(3):173-178 Authors: Iourov IY, Zelenova MA, Vorsanova SG, Voinova VV, Yurov YB Abstract During the last decades, a large amount of newly described microduplications and microdeletions associated with intellectual disability (ID) and related neuropsychiatric diseases have been discovered. However, due to natural limitations, a significant part of them has not been the focus of multidisciplinary approaches. Here, we address previously undescribed chromosome 4q21.2q21.3 microduplication for gene prioritization, evaluation of cognitive abilities and estimation of genomic mechanisms for brain dysfunction by molecular cytogenetic (cytogenomic) and gene expression (meta-) analyses as well as for neuropsychological assessment. We showed that duplication at 4q21.2q21.3 is associated with moderate ID, cognitive deficits, developmental delay, language impairment, memory and attention problems, facial dysmorphisms, congenital heart defect and dentinogenesis imperfecta. Gene-expression meta-analysis prioritized the following genes: ENOPH1, AFF1, DSPP, SPARCL1, and SPP1. Furthermore, genotype/phenotype correlations allowed the attribution of each gene gain to each phenotypic feature. Neuropsychological testing showed visual-perceptual and fine motor skill deficits, reduced attention span, deficits of the nominative function and problems in processing both visual and aural info...
Source: Current Genomics - Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

Related Links:

Publication date: August 2019Source: Epilepsy &Behavior, Volume 97Author(s): Francesca Felicia Operto, Grazia Maria Giovanna Pastorino, Roberta Mazza, Michele Roccella, Marco Carotenuto, Lucia Margari, Alberto VerrottiAbstractIntroductionBenign epilepsy with centrotemporal spikes (BECTS) is a common epileptic syndrome in childhood, characterized by brief and infrequent partial motor seizures, with or without generalization and mostly recurring during sleep. Because of its favorable efficacy, tolerability, and safety profile, levetiracetam (LEV) monotherapy is often administered in these patients. Long-term effects of L...
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
Scientific collaborators from Carnegie Mellon University and University of Minnesota have created a way for people to control a robotic arm using a non-invasive brain-computer interface (BCI). Previously, electrode array implants in the brain have be...
Source: Medgadget - Category: Medical Devices Authors: Tags: Neurosurgery Rehab Source Type: blogs
This study documents the establishment of PaedePPOC and presents baseline and initial outcome data. Binational consensus meetings determined the measures. Governance structures, collection protocols, information technology, site-specific logistics, and onsite training were achieved within 18 months. Children and parents complete baseline and progress questionnaires. Seven of 10 Australasian services provided data to PaedePPOC, with 1432 patients enrolled until June 2018. At baseline, patients were 12.4 ± (3.0) years, 68% female, 93% Australian-born, and 5% Aboriginal and/or Torres Strait Islander people. Most had mo...
Source: Pain - Category: Anesthesiology Tags: Research Paper Source Type: research
Conclusion: Sexual abuse was relatively common and was not associated with an adverse relationship with the covariates assessed. Further research is needed to better determine the prevalence of sexual abuse in people with SCD and its impact. PMID: 31233376 [PubMed - as supplied by publisher]
Source: Journal of Spinal Cord Medicine - Category: Orthopaedics Tags: J Spinal Cord Med Source Type: research
This report seeks to highlight the human impact that this has on people living with dementia. It focuses on themes of equality, non-discrimination, participation and inclusion.
Source: Current Awareness Service for Health (CASH) - Category: Consumer Health News Source Type: news
Conclusions and ImplicationsChildren with ID may use different processes to facilitate word learning compared to TD children and even children with ASC.
Source: Research in Developmental Disabilities - Category: Disability Source Type: research
Conclusion and implicationsOverall, findings indicate that teaching youth with ID a growth mindset of emotion and behavior and perseverance may be a potentially successful endeavour to improve mental health in adolescents with ID.
Source: Research in Developmental Disabilities - Category: Disability Source Type: research
This article addresses the narrated strategies employed by people with disabilities in managing part-time employment, drawing on interview data from 10 Norwegian citizens who worked part-time in addition to receiving a graded disability pension. The findings illustrate that flexibility and visibility are specific strategies that our informants implement when health issues and reduced working hours result in weakened connections to the workplace. The article demonstrates how the discourses around paid employment facilitate these strategies. By providing insight into people's narrated experiences of engaging in part-time wor...
Source: ALTER - European Journal of Disability Research - Category: Disability Source Type: research
Publication date: Available online 25 June 2019Source: AlterAuthor(s): Valentine Gourinat
Source: ALTER - European Journal of Disability Research - Category: Disability Source Type: research
Publication date: Available online 25 June 2019Source: Contemporary Educational PsychologyAuthor(s): Grzegorz Szumski, Maciej KarwowskiAbstractTeacher expectancy effect (TEE) also known as the Pygmalion effect is a classic, yet still controversial phenomenon within educational psychology. In this paper, we examine TEE in a longitudinal study on a large sample (N = 1,488) of Polish middle-school students and their teachers. Consistent with TEE, teachers’ higher expectations were positively related to students’ math achievement three semesters later, even after controlling for initial achievement. Students’...
Source: Contemporary Educational Psychology - Category: Child Development Source Type: research
More News: Brain | Cardiology | Disability | Genetics | Heart | Neurology