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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 -
Medicina (Kaunas, Lithuania) Aug 2023: Specific Learning Disorder (SLD) is a complex neurobiological disorder characterized by a persistent difficult in reading (dyslexia), written expression (dysgraphia),...
: Specific Learning Disorder (SLD) is a complex neurobiological disorder characterized by a persistent difficult in reading (dyslexia), written expression (dysgraphia), and mathematics (dyscalculia). The hereditary and genetic component is one of the underlying causes of SLD, but the relationship between genes and the environment should be considered. Several genetic studies were performed in different populations to identify causative genes. : Here, we show the analysis of 9 multiplex families with at least 2 individuals diagnosed with SLD per family, with a total of 37 persons, 21 of whom are young subjects with SLD, by means of Next-Generation Sequencing (NGS) to identify possible causative mutations in a panel of 15 candidate genes: , , , , , , , , , , , , , , and . We detected, in eight families out nine, SNP variants in the , , , and genes, even if in silico analysis did not show any causative effect on this behavioral condition. In all cases, the mutation was transmitted by one of the two parents, thus excluding the case of de novo mutation. Moreover, the parent carrying the allelic variant transmitted to the children, in six out of seven families, reports language difficulties. : Although the present results cannot be considered conclusive due to the limited sample size, the identification of genetic variants in the above genes can provide input for further research on the same, as well as on other genes/mutations, to better understand the genetic basis of this disorder, and from this perspective, to better understand also the neuropsychological and social aspects connected to this disorder, which affects an increasing number of young people.
Topics: Child; Humans; Adolescent; Specific Learning Disorder; Nerve Tissue Proteins; Receptors, Immunologic; Alleles; High-Throughput Nucleotide Sequencing; Microtubule-Associated Proteins
PubMed: 37629793
DOI: 10.3390/medicina59081503 -
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 -
International Journal of Language &... 2024Despite its potentially significant functional and emotional impact, acalculia is still too rarely assessed and managed by speech and language therapists. Research on...
BACKGROUND
Despite its potentially significant functional and emotional impact, acalculia is still too rarely assessed and managed by speech and language therapists. Research on the rehabilitation of numerical transcoding remains scarce in the literature and, despite positive results, presents a low level of evidence.
AIMS
The present study aims to evaluate the effectiveness of a targeted rehabilitation of numerical transcoding in two patients suffering from a chronic secondary acalculia.
METHODS & PROCEDURES
Two post-brain injury females with secondary acalculia took part in a single-case experimental design with multiple baseline across subjects according to a three-phase experimental protocol: baseline involving global cognitive rehabilitation (5-7 measurements with randomized sequential introduction); targeted intervention (10 measurements); follow-up (2 immediate measurements and 1 month after the end of the intervention). Repeated outcome measures consisted of six lists composed of numbers of equivalent difficulty that were used alternately to assess numerical transcoding. We used a reverse digit span as a control measure to assess the specificity of the intervention. Rehabilitation lasted 5 weeks and consisted of errorless learning with colour cues, tables and number-words cards.
OUTCOMES & RESULTS
During baseline period involving global cognitive rehabilitation, transcoding scores remained unchanged. In contrast, there was a significant improvement in scores for both patients during the intervention phase targeting transcoding and maintenance of benefits 1-month post-intervention.
CONCLUSIONS & IMPLICATIONS
This study demonstrates that a specific rehabilitation targeting numerical transcoding following chronic secondary acalculia can be effective in improving transcoding skills.
WHAT THIS PAPER ADDS
What is already known on the subject Transcoding difficulties in patients with acalculia can cause a significant disability in everyday life activities. In secondary acalculia, rehabilitation of cognitive functions associated with number processing (attention, working memory, language) is not sufficient for improvement of transcoding. What this paper adds to existing knowledge An intervention specifically targeting numerical transcoding significantly and durably improves the skills of patients with chronic secondary acalculia. What are the potential or actual clinical implications of this work? Procedural error-free intervention using colour cueing, tables, cards with number-words, copy and repetition seems effective to improve transcoding skills in chronic acalculia.
Topics: Female; Humans; Dyscalculia; Research Design; Cognition; Memory, Short-Term; Language
PubMed: 37528503
DOI: 10.1111/1460-6984.12942 -
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 -
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 -
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 -
Disability and Rehabilitation.... Jan 2024The use of technology in teaching and learning process for children is gaining importance. Children with specific learning disabilities have shown positive results with... (Randomized Controlled Trial)
Randomized Controlled Trial
PURPOSE
The use of technology in teaching and learning process for children is gaining importance. Children with specific learning disabilities have shown positive results with assistive technology tools. Dyscalculia is a specific learning disability in which an individual faces problem in mathematical skills. Around 3-7% of the world population is affected with it. The aim of the current research study is to determine the effectiveness of an assistive technology tool, Mathlete on children with dyscalculia's early numeracy skills. Such assistive technology tools can serve as a boon for these children.
METHOD
A total of 40 children with dyscalculia were a part of the study. The group of 40 children were randomly divided into two groups: experiment group using mathlete for improving their learning (30 children) and a control group using only traditional teaching for learning (10 children). The children were screened for dyscalculia using the screening module of mathlete.
RESULTS
The two groups showed no significant difference in terms of their socio-economic status, gender and parents education level. Children in the experiment group showed improvement from pre-test to post-test after using mathlete. Also, there was significant difference in learning of both the groups, children in experiment group could understand the concepts better than the ones in control group.
CONCLUSION
Mathlete helped improve the mathematical learning of children with dyscalculia from pre-test to post-test.
Topics: Child; Humans; Dyscalculia; Learning; Learning Disabilities; Self-Help Devices
PubMed: 36260424
DOI: 10.1080/17483107.2022.2134473 -
Quarterly Journal of Experimental... Aug 2023The processing of Arabic digits is a core difficulty of children suffering from mathematical learning disability (MLD). Dominant accounts assume a semantic impairment...
The processing of Arabic digits is a core difficulty of children suffering from mathematical learning disability (MLD). Dominant accounts assume a semantic impairment affecting either the magnitude representation or its access from numerical symbols. But recent data have raised the hypothesis that the impaired processing of Arabic digits may be explained by a selective deficit of digit visual recognition (i.e., recognising a symbol as one of the digits, no matter its identity or numerical meaning). This study aims at testing whether the difficulty to process Arabic digits remains prevalent in adults with MLD and whether it is effectively associated with a digit visual recognition deficit. To do so, we compared 19 adults with MLD to 19 matched controls in an task that required to identify the largest of two digits, and in an task that required to decide whether a visual stimulus is a digit or not. The results showed that MLD participants took more time than control participants to perform the comparison task. In contrast, their performance in the digit lexical decision task was within the range of the control participants. Overall, this finding indicates that adults with MLD continue to experience difficulties to process the magnitude of Arabic digits efficiently, and this cannot be explained by a visual recognition deficit for Arabic digits. We conclude that their difficulties are best explained by an impaired representation of number magnitude or by an impaired access to this representation.
Topics: Child; Humans; Adult; Reaction Time; Learning Disabilities; Mathematics; Recognition, Psychology
PubMed: 36113204
DOI: 10.1177/17470218221128498 -
Neuropsychological Rehabilitation Oct 2023Acalculia, an acquired disability following a brain injury, involves difficulty processing numerical information and/or calculations. Acalculia is not routinely screened...
Acalculia, an acquired disability following a brain injury, involves difficulty processing numerical information and/or calculations. Acalculia is not routinely screened for, and as a result there is a lack of understanding about the nature and prevalence and the impact of the condition. This qualitative study was initiated by stroke survivors with a strong interest in acalculia. Sixteen stroke/brain injury survivors with acalculia and seven carers were interviewed using semi-structured online interviews. Participants ranged in age, gender, time post-onset, country of residence and numeracy level prior to brain injury. Data were analysed using thematic analysis. Three main themes were identified: Awareness and Diagnosis; Emotional and Practical Impact (independence); Support, Coping Strategies and Self-training. Participants and carers repeatedly referred to the lack of awareness and treatment for acalculia and the impact acalculia has had on their lives and independence. Practical impacts included managing money, making appointments, using timetables, organizing social activities and employment, and managing medication. Our results highlight the urgent need to develop suitable assessments and interventions for acalculia and the scope for this to be Patient, Carer and Public involvement (PCPI)-led. The data also reveal useful strategies and suggestions regarding effective timing, targets and approaches for intervention.
Topics: Humans; Dyscalculia; Stroke; Brain Injuries; Stroke Rehabilitation; Qualitative Research; Caregivers
PubMed: 35959752
DOI: 10.1080/09602011.2022.2108065