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BMJ Neurology Open 2023IRF2BPL (interferon regulatory factor 2-binding protein-like) gene is an intronless gene present ubiquitously in the human body, including the brain. Pathogenic variants...
BACKGROUND
IRF2BPL (interferon regulatory factor 2-binding protein-like) gene is an intronless gene present ubiquitously in the human body, including the brain. Pathogenic variants lead to neurodegeneration and present with phenotypic features of a neurological disorder, including dyslexia, dyscalculia, epilepsy, dystonia, neurodevelopmental regression, loss of motor skills and cerebellar ataxia.
CASE
We present a case of a 9-year-old boy who was brought to the emergency department with generalised tonic-clonic seizures and mild hypotonia. A history included neurological regression. After insignificant lab and imaging results, the patient underwent genetic testing, revealing a novel pathogenic mutation in the IRF2BPL gene (heterozygous variant), which had never been reported in the literature before. An autosomal dominant loss of function mutation was demonstrated, denoting in DNA as NM_0 24 496 c.911 C>T, which results in premature protein termination (p.Glu494).
CONCLUSION
Our case highlights the importance of early recognition of the neurological symptoms associated with various IRF2BPL gene mutations so that a timely multidisciplinary management approach can be provided.
PubMed: 37649702
DOI: 10.1136/bmjno-2023-000459 -
Frontiers in Psychology 2023Different research over the years has shown how the executive processes of Working Memory are a fundamental area that allows the performance of complex cognitive tasks...
INTRODUCTION
Different research over the years has shown how the executive processes of Working Memory are a fundamental area that allows the performance of complex cognitive tasks such as language comprehension, reading, mathematical skills, learning or reasoning. Therefore, scientific evidence shows that they are altered in people with dyslexia and dyscalculia. The aim of this research was to study the relationship between semantic updating ability and reading comprehension depending on whether or not the information content had a mathematical character between the two disorders.
METHODS
A Pilot Case Study was carried out for this purpose. The sample consisted of 40 participants aged 6 to 11 years, 20 of them with a diagnosis of dyslexia and the remaining 20 with a diagnosis of dyscalculia. The results indicate that people with dyslexia show more difficulties in all those tasks that require reading.
RESULTS
People with dyscalculia obtain worse results in the tasks of stimulus integration and reading comprehension of texts with mathematical content. Furthermore, the correlation between the different areas evaluated shows that people with dyslexia and dyscalculia develop different cognitive processes.
DISCUSSION
Therefore, it is necessary to continue insisting on the importance of explicit work on working memory, since it is a determining and fundamental area in the development of written language comprehension.
PubMed: 37529304
DOI: 10.3389/fpsyg.2023.1191304 -
Child Neuropsychology : a Journal on... Feb 2024This study analyses the specific neuropsychological profiles of children with dyslexia and/or dyscalculia, in particular concerning phonological awareness, lexical...
This study analyses the specific neuropsychological profiles of children with dyslexia and/or dyscalculia, in particular concerning phonological awareness, lexical access, working memory and numerical processing. Four groups were selected, through a screening process that used strict criteria, from 1568 7-10-year-old children: 90 with typical development, 61 with dyslexia, 13 with dyscalculia, and 14 with dyslexia + dyscalculia. Children with dyslexia show a deficit in phonological processing, lexical access, and verbal working memory, especially with alphabetic stimuli. Children with developmental dyscalculia show a deficit of phonological processing, verbal working memory with digits and visual-spatial working memory. They also show an impairment in spatial representation of numbers and in the automatic access to numerical semantics to a greater extent than those with double disturbance. Children with dyslexia + dyscalculia show a profile generally characterized by the summation of the deficits of the two disorders, although they have a lower deficit in access to numerical semantics and mental representation of numbers.
Topics: Child; Humans; Dyscalculia; Developmental Disabilities; Dyslexia; Memory, Short-Term; Semantics
PubMed: 36715348
DOI: 10.1080/09297049.2023.2170997 -
Journal of Learning Disabilities 2023Developmental dyscalculia (DD) is a mathematics learning disorder that affects approximately 5% to 7% of the population. This study aimed to detect the underlying...
Developmental dyscalculia (DD) is a mathematics learning disorder that affects approximately 5% to 7% of the population. This study aimed to detect the underlying domain-specific and domain-general differences between DD and typically developing (TD) children. We recruited 9-year-old primary school children to form the DD group via a 2-year longitudinal screening process. In total, 75 DD children were screened from 1,657 children after the one-time screening, and 13 DD children were screened from 1,317 children through a consecutive 2-year longitudinal screening. In total, 13 experimental tasks were administered to assess their cognitive abilities to test the domain-specific magnitude representation hypothesis (including symbolic and nonsymbolic magnitude comparisons) and four alternative domain-general hypotheses (including working memory, executive function, attention, and visuospatial processing). The DD group had worse performance than the TD group on the number sense task, finger sense task, shifting task, and one-back task after both one-time and two-time screening. Logistic regressions further indicated the differences on the shifting task and the nonsymbolic magnitude comparison task could distinguish DD and TD children. Our findings suggest that domain-specific nonsymbolic magnitude representation and domain-general executive function both contribute to DD. Thus, both domain-specific and domain-general abilities will be necessary to investigate and to intervene in DD groups in the future.
Topics: Humans; Child; Dyscalculia; Memory, Short-Term; Learning Disabilities; Executive Function; Cognition
PubMed: 35674456
DOI: 10.1177/00222194221099674 -
Child Neuropsychology : a Journal on... Nov 2023Developmental dyscalculia is a neurodevelopmental disorder, influencing the learning of mathematics in developing children. In the last two decades, continuous growth of... (Review)
Review
Developmental dyscalculia is a neurodevelopmental disorder, influencing the learning of mathematics in developing children. In the last two decades, continuous growth of research has helped in the advancement of the state of knowledge of dyscalculia. This upsurge in the number of studies makes it relevant to conduct a systematic review, covering all the empirical evidence, but there is a dearth of review studies synthesizing findings of the studies in the recent past. Therefore, the current study aims to systematically review studies investigating the underlying cognitive causal factors associated with developmental dyscalculia in the last two decades. To investigate the underlying cognitive factors associated with dyscalculia, two prominent approaches have been used: domain-general and domain-specific. While the domain-general approach argues for the deficit in general cognitive abilities, the domain-specific approach argues for the deficit in core numerical abilities. In the present review, the PRISMA method is followed. Articles were searched using two methods: firstly, through database sources of Google Scholar, Web of Science, and ScienceDirect, 1738 abstracts were screened, of which 46 articles met the specific inclusion criteria; and secondly, through recently published systematic reviews and meta-analyses, 29 studies were included. A total of 75 studies, 48 studies from domain-general and 27 studies from domain-specific approaches, have been selected. This review discusses domain-general and domain-specific approaches of developmental dyscalculia, along with specific theories associated with both approaches. Based on the discussed findings, visuospatial working memory and symbolic number processing abilities emerged as the best predictor of math ability in children with dyscalculia.
PubMed: 36440471
DOI: 10.1080/09297049.2022.2147914 -
Frontiers in Psychology 2023Developmental dyscalculia (DD) is a subtype of learning disabilities, which is characterized by lower mathematical skills despite average intelligence and average or... (Review)
Review
Developmental dyscalculia (DD) is a subtype of learning disabilities, which is characterized by lower mathematical skills despite average intelligence and average or satisfactory performance in other academic areas. It is not fully understood how such deficits emerge in the course of brain development. When considering the mechanisms of dyscalculia, two domain-specific systems are distinguished. The Approximate Number System (ANS) is related to the approximate estimation of large sets, and the Object Tracking System (OTS) is responsible for subitizing, that is, the exact quantification of small sets. In recent years, the multiple-deficit framework has become increasingly popular. On the one hand, it explains the impairment of certain general cognitive functions in children with DD, such as executive functions, attention, visual-perceptual discrimination, processing speed, and rapid scanning of visual information. On the other hand, it provides a theoretical basis for explaining the simultaneous occurrence of the different types of other comorbid conditions (such as dyslexia and ADHD) and the relationship between them. We suggest that the face recognition could be considered as another, probably impaired function in dyscalculic individuals. We highlight several brain areas involved both in numerical and facial processing: intraparietal sulcus (IPS), fusiform gyrus (FFG), and hippocampus (HC). We consider the possibility of expanding the scope of dyscalculia research by application of face perception paradigms.
PubMed: 38235284
DOI: 10.3389/fpsyg.2023.1218124 -
Frontiers in Human Neuroscience 2023Developmental dyscalculia is a neurodevelopmental disorder specific to arithmetic learning even with normal intelligence and age-appropriate education. Difficulties...
Developmental dyscalculia is a neurodevelopmental disorder specific to arithmetic learning even with normal intelligence and age-appropriate education. Difficulties often persist from childhood through adulthood lowering the individual's quality of life. However, the neural correlates of developmental dyscalculia are poorly understood. This study aimed to identify brain structural connectivity alterations in developmental dyscalculia. All participants were recruited from a large scale, non-referred population sample in a longitudinal design. We studied 10 children with developmental dyscalculia (11.3 ± 0.7 years) and 16 typically developing peers (11.2 ± 0.6 years) using diffusion-weighted magnetic resonance imaging. We assessed white matter microstructure with tract-based spatial statistics in regions-of-interest tracts that had previously been related to math ability in children. Then we used global probabilistic tractography for the first time to measure and compare tract length between developmental dyscalculia and typically developing groups. The high angular resolution diffusion-weighted magnetic resonance imaging and crossing-fiber probabilistic tractography allowed us to evaluate the length of the pathways compared to previous studies. The major findings of our study were reduced white matter coherence and shorter tract length of the left superior longitudinal/arcuate fasciculus and left anterior thalamic radiation in the developmental dyscalculia group. Furthermore, the lower white matter coherence and shorter pathways tended to be associated with the lower math performance. These results from the regional analyses indicate that learning, memory and language-related pathways in the left hemisphere might be related to developmental dyscalculia in children.
PubMed: 37868699
DOI: 10.3389/fnhum.2023.1147352 -
Psychiatry and Clinical Neurosciences Jul 2023Patients with Turner syndrome have a high rate of developmental dyscalculia, but the underlying neurocognitive mechanisms are not well-understood. Some studies have...
AIM
Patients with Turner syndrome have a high rate of developmental dyscalculia, but the underlying neurocognitive mechanisms are not well-understood. Some studies have implicated visuospatial impairments in patients with Turner syndrome, but others have focused on poor procedural skills in patients with Turner syndrome. This study used brain imaging data to test these two alternative views.
METHODS
This study recruited 44 girls with Turner syndrome (mean age, 12.91 years; SD, 2.02), with 13 (29.5%) of them meeting the criterion for developmental dyscalculia, and 14 normally developing girls (mean age, 14.26 years; SD, 2.18) as a comparison group. All participants were given basic mathematical ability tests and an intelligence test and were scanned using magnetic resonance imaging. We compared patients with Turner syndrome who had dyscalculia, patients with Turner syndrome who did not have dyscalculia, and the normal controls in terms of brain structures and resting-state functional activity.
RESULTS
Compared with normal controls, both groups of patients with Turner syndrome (with or without dyscalculia) showed similarly altered functional connectivity in the occipitoparietal dorsal stream. Importantly, compared with patients with Turner syndrome without dyscalculia and normal controls, patients with Turner syndrome with dyscalculia showed decreased functional connectivity between the prefrontal and the lateral occipital cortex.
CONCLUSION
We concluded that both groups of patients with Turner syndrome shared visual deficits, and patients with Turner syndrome with dyscalculia had a deficit in frontal cortex-based higher cognitive processing. It is not their visuospatial deficits but rather their deficits in higher cognitive processing that are responsible for the development of dyscalculia in patients with Turner syndrome.
Topics: Female; Humans; Child; Adolescent; Turner Syndrome; Dyscalculia; Brain; Cognition; Prefrontal Cortex; Magnetic Resonance Imaging
PubMed: 36912482
DOI: 10.1111/pcn.13543 -
Rand Health Quarterly Sep 2023National security organizations need highly skilled and intellectually creative individuals who are eager to apply their talents to address the nation's most pressing...
National security organizations need highly skilled and intellectually creative individuals who are eager to apply their talents to address the nation's most pressing challenges. In public and private discussions, officials and experts addressed the need for in the national security community. They described missions that are too important and too difficult to be left to those who use their brains only in ways. is an umbrella term that covers a variety of cognitive diagnoses, including (but not exclusive to) autism spectrum disorder, attention deficit disorder (ADD) and attention-deficit/hyperactivity disorder (ADHD), dyslexia, dyscalculia, and Tourette's syndrome. Neurodivergent individuals are already part of the national security workforce. The purpose of this study is to understand the benefits that people with neurodivergence bring to national security; the challenges in recruiting, working with, and managing a neurodiverse workforce; and the barriers in national security workplaces that prevent agencies from realizing the full benefits of neurodiversity. To carry out this research, the authors conducted a review of primary, secondary, and commercial literature; they conducted semistructured interviews and held discussions with government officials, researchers and advocates for the interests of neurodivergent populations, and representatives from large organizations that have neurodiversity employment programs; and they synthesized findings from across these tasks to describe the complex landscape for neurodiversity in large organizations in general and in national security specifically.
PubMed: 37720075
DOI: No ID Found -
Nursing Standard (Royal College of... Apr 2024Neurodivergent conditions such as autism, attention deficit hyperactivity disorder (ADHD), dyslexia, dyspraxia, dyscalculia and Tourette's syndrome are common, and it is...
Neurodivergent conditions such as autism, attention deficit hyperactivity disorder (ADHD), dyslexia, dyspraxia, dyscalculia and Tourette's syndrome are common, and it is highly likely that practice assessors and supervisors will be asked to support neurodivergent nursing students in their practice learning environments. This article details the strengths that neurodivergent students can bring to nursing, as well as some of the challenges they may experience in practice settings. It outlines how practice assessors and supervisors can develop neuro-inclusive learning environments where neurodivergent students can thrive, as well as how to support them if they are not meeting their required proficiencies. The authors also discuss how appropriate reasonable adjustments can be implemented by using a collaborative approach with students.
PubMed: 38616773
DOI: 10.7748/ns.2024.e12262