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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 -
Behavioural Neurology 2019Acalculia is an acquired disorder in calculation abilities, usually associated with left posterior parietal damage. Two types of acalculic disorders are usually... (Review)
Review
Acalculia is an acquired disorder in calculation abilities, usually associated with left posterior parietal damage. Two types of acalculic disorders are usually distinguished: (1) primary acalculia or anarithmetia, where the patient presents a loss of numerical concepts (difficulties are observed both in oral and written calculations), and (2) secondary acalculia due to a different disturbance in cognition and affecting mathematical abilities. Secondary acalculias are associated with aphasia, alexia, agraphia, executive function disorders, or visuospatial difficulties. This paper is a proposal for clinical intervention to rehabilitation of acquired primary and secondary acalculias.
Topics: Cognition; Cognition Disorders; Dyscalculia; Humans; Mathematics; Neuropsychological Tests
PubMed: 31093301
DOI: 10.1155/2019/3151092 -
Epilepsia Open Mar 2022The present study aimed to examine the prevalence of dyscalculia, dyslexia, and their comorbidity rates in a large population-based sample of children with idiopathic...
OBJECTIVE
The present study aimed to examine the prevalence of dyscalculia, dyslexia, and their comorbidity rates in a large population-based sample of children with idiopathic epilepsy (N = 2282) and a comparison sample of typically developing schoolchildren (N = 2371).
METHODS
Both groups of children were screened using an arithmetic fluency test for dyscalculia and a reading fluency test for dyslexia. Their comorbidity rates were assessed. The prevalence rates of dyscalculia, dyslexia, comorbidity, and isolated dyscalculia/dyslexia (ie, participants with comorbid dyslexia and dyscalculia were excluded) were analyzed.
RESULTS
In both -1.5 SD and -1 SD cutoff criterion, the prevalence rates were about two times higher in children with idiopathic epilepsy than in other schoolchildren; the prevalence rates of isolated dyslexia were higher in children with idiopathic epilepsy than in other schoolchildren (-1 SD: 10.9% vs 8.6%; -1.5 SD: 6.5% vs 4.7%). Meanwhile, comorbidity rates of dyscalculia and dyslexia were higher in children with idiopathic epilepsy than in other schoolchildren (32.7% vs 26.6%; 38.3% vs 23.5%, respectively). Overall, patterns of prevalence rates were different for children with idiopathic epilepsy and schoolchildren, in which children with idiopathic epilepsy had a higher prevalence rate of dyscalculia than dyslexia, while schoolchildren had a higher prevalence of dyslexia than dyscalculia, regardless of cutoff criteria. Interestingly, gender differences in the prevalence rates of all types of learning disabilities were found in schoolchildren, but there were only gender differences in the prevalence rates of dyslexia in children with idiopathic epilepsy.
SIGNIFICANCE
The results highlight the vulnerability of children with idiopathic epilepsy for learning disabilities and a differential pattern of gender differences in dyslexia. Moreover, different patterns of prevalence rates suggest that children with idiopathic epilepsy and schoolchildren are more prone to different types of learning disabilities. The findings suggest needs for special interventions of learning disabilities for children with idiopathic epilepsy.
Topics: Child; China; Comorbidity; Dyscalculia; Dyslexia; Epilepsy; Humans; Prevalence; Sex Factors
PubMed: 35007403
DOI: 10.1002/epi4.12577 -
Frontiers in Public Health 2022Dyslexia is a disorder characterized by an impaired ability to understand written and printed words or phrases. Epidemiological longitudinal data show that dyslexia is... (Meta-Analysis)
Meta-Analysis
Dyslexia is a disorder characterized by an impaired ability to understand written and printed words or phrases. Epidemiological longitudinal data show that dyslexia is highly prevalent, affecting 10-20% of the population regardless of gender. This study aims to provide a detailed overview of research status and development characteristics of dyslexia from types of articles, years, countries, institutions, journals, authors, author keywords, and highly cited papers. A total of 9,166 publications have been retrieved from the Social Sciences Citation Index (SSCI) and Science Citation Index Expanded (SCI-E) from 2000 to 2021. The United States of America, United Kingdom, and Germany were the top three most productive countries in terms of the number of publications. China, Israel, and Japan led the Asia research on dyslexia. University of Oxford had the most publications and won first place in terms of h-index. was the most productive journal in this field and Psychology was the most used subject category. Keywords analysis indicated that "developmental dyslexia," "phonological awareness," children and fMRI were still the main research topics. "Literacy," "rapid automatized naming (RAN)," "assessment," "intervention," "meta-analysis," "Chinese," "executive function," "morphological awareness," "decoding," "dyscalculia," "EEG," "Eye tracking," "rhythm," "bilingualism," and "functional connectivity" might become the new research hotspots.
Topics: Asia; Bibliometrics; Child; China; Dyslexia; Humans; United Kingdom; United States
PubMed: 35812514
DOI: 10.3389/fpubh.2022.915053 -
Frontiers in Human Neuroscience 2021
PubMed: 34955796
DOI: 10.3389/fnhum.2021.811101 -
Philosophical Transactions of the Royal... Feb 2017One specific cause of low numeracy is a deficit in a mechanism for representing and processing numerosities that humans inherited and which is putatively shared with... (Review)
Review
One specific cause of low numeracy is a deficit in a mechanism for representing and processing numerosities that humans inherited and which is putatively shared with many other species. This deficit is evident at each of the four levels of explanation in the 'causal modelling' framework of Morton and Frith (Morton and Frith 1995 In , vol. 1 (eds D Cichetti, D Cohen), pp. 357-390). Very low numeracy can occur in cognitively able individuals with normal access to good education: it is linked to an easily measured deficit in basic numerosity processing; it has a distinctive neural signature; and twin studies suggest specific heritability, though the relevant genes have not yet been identified. Unfortunately, educators and policymakers seem largely unaware of this cause, but appropriate interventions could alleviate the suffering and handicap of those with low numeracy, and would be a major benefit to society.This article is part of a discussion meeting issue 'The origins of numerical abilities'.
Topics: Comprehension; Education; Humans; Mathematical Concepts
PubMed: 29292351
DOI: 10.1098/rstb.2017.0118 -
NPJ Science of Learning Jul 2021The development of numerical and arithmetic abilities constitutes a crucial cornerstone in our modern and educated societies. Difficulties to acquire these central... (Review)
Review
The development of numerical and arithmetic abilities constitutes a crucial cornerstone in our modern and educated societies. Difficulties to acquire these central skills can lead to severe consequences for an individual's well-being and nation's economy. In the present review, we describe our current broad understanding of the functional and structural brain organization that supports the development of numbers and arithmetic. The existing evidence points towards a complex interaction among multiple domain-specific (e.g., representation of quantities and number symbols) and domain-general (e.g., working memory, visual-spatial abilities) cognitive processes, as well as a dynamic integration of several brain regions into functional networks that support these processes. These networks are mainly, but not exclusively, located in regions of the frontal and parietal cortex, and the functional and structural dynamics of these networks differ as a function of age and performance level. Distinctive brain activation patterns have also been shown for children with dyscalculia, a specific learning disability in the domain of mathematics. Although our knowledge about the developmental brain dynamics of number and arithmetic has greatly improved over the past years, many questions about the interaction and the causal involvement of the abovementioned functional brain networks remain. This review provides a broad and critical overview of the known developmental processes and what is yet to be discovered.
PubMed: 34301948
DOI: 10.1038/s41539-021-00099-3 -
Frontiers in Human Neuroscience 2021Dyscalculia is a learning disability affecting the acquisition of arithmetical skills in children with normal intelligence and age-appropriate education. Two hypotheses...
Dyscalculia is a learning disability affecting the acquisition of arithmetical skills in children with normal intelligence and age-appropriate education. Two hypotheses attempt to explain the main cause of dyscalculia. The first hypothesis suggests that a problem with the core mechanisms of perceiving (non-symbolic) quantities is the cause of dyscalculia (core deficit hypothesis), while the alternative hypothesis suggests that dyscalculics have problems only with the processing of numerical symbols (access deficit hypothesis). In the present study, the symbolic and non-symbolic numerosity processing of typically developing children and children with dyscalculia were examined with functional magnetic resonance imaging (fMRI). Control ( = 15, mean age: 11.26) and dyscalculia ( = 12, mean age: 11.25) groups were determined using a wide-scale screening process. Participants performed a quantity comparison paradigm in the fMRI with two number conditions (dot and symbol comparison) and two difficulty levels (0.5 and 0.7 ratio). The results showed that the bilateral intraparietal sulcus (IPS), left dorsolateral prefrontal cortex (DLPFC) and left fusiform gyrus (so-called "number form area") were activated for number perception as well as bilateral occipital and supplementary motor areas. The task difficulty engaged bilateral insular cortex, anterior cingulate cortex, IPS, and DLPFC activation. The dyscalculia group showed more activation in the left orbitofrontal cortex, left medial prefrontal cortex, and right anterior cingulate cortex than the control group. The dyscalculia group showed left hippocampus activation specifically for the symbolic condition. Increased left hippocampal and left-lateralized frontal network activation suggest increased executive and memory-based compensation mechanisms during symbolic processing for dyscalculics. Overall, our findings support the access deficit hypothesis as a neural basis for dyscalculia.
PubMed: 34354576
DOI: 10.3389/fnhum.2021.687476 -
Frontiers in Psychology 2022Mathematics is a struggle for many. To make it more accessible, behavioral and educational scientists are redesigning how it is taught. To a similar end, a few rogue... (Review)
Review
Mathematics is a struggle for many. To make it more accessible, behavioral and educational scientists are redesigning how it is taught. To a similar end, a few rogue mathematicians and computer scientists are doing something more radical: they are redesigning mathematics itself, improving its ergonomic features. Charles Peirce, an important contributor to ordinary symbolic logic, also introduced a rigorous but non-symbolic, graphical alternative to it that is easier to picture. In the spirit of this , George Spencer-Brown founded . Performing iconic arithmetic, algebra, and even trigonometry, resembles doing calculations on an abacus, which is still popular in education today, has aided humanity for millennia, helps even when it is merely imagined, and ameliorates severe disability in basic computation. Interestingly, whereas some intellectually disabled individuals excel in very complex numerical tasks, others of normal intelligence fail even in very simple ones. A comparison of their wider psychological profiles suggests that iconic mathematics ought to suit the very people traditional mathematics leaves behind.
PubMed: 35769758
DOI: 10.3389/fpsyg.2022.890362 -
Scientific Reports Apr 2022When asked to estimate the number of items in the visual field, neurotypical adults are more precise and rapid if the items are clustered into subgroups compared to when...
When asked to estimate the number of items in the visual field, neurotypical adults are more precise and rapid if the items are clustered into subgroups compared to when they are randomly distributed. It has been suggested that this phenomenon, termed "groupitizing", relies on the recruitment of arithmetical calculation strategies and subitizing. Here the role of arithmetical skills in groupitizing was investigated by measuring the groupitizing effect (or advantage) in a sample of children and adolescents with and without math learning disability (dyscalculia). The results showed that when items were grouped, both groups of participants showed a similar advantage on sensory precision and response time in numerosity estimates. Correlational analyses confirmed a lack of covariation between groupitizing advantage and math scores. Bayesian statistics on sensory precision sustained the frequentist analyses providing decisive evidence in favor of no groups difference on groupitizing advantage magnitude (LBF = - 0.44) and no correlation with math scores (LBF = - 0.57). The results on response times, although less decisive, were again in favor of the null hypothesis. Overall, the results suggest that the link between groupitizing and mathematical abilities cannot be taken for granted, calling for further investigations on the factors underlying this perceptual phenomenon.
Topics: Adolescent; Adult; Aptitude; Bayes Theorem; Child; Developmental Disabilities; Dyscalculia; Humans; Mathematics
PubMed: 35379895
DOI: 10.1038/s41598-022-09709-5