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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 -
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 -
Zhurnal Nevrologii I Psikhiatrii Imeni... 2023The review is devoted to one of the current problems of pediatric neurology - reading and writing disorders in children as part of a partial developmental disorder. With...
The review is devoted to one of the current problems of pediatric neurology - reading and writing disorders in children as part of a partial developmental disorder. With the development of neuroscience, the paradigm of «brain damage» in the understanding of a number of pathological conditions was replaced by the concept of «evolutionary neurology». The dominance of the ontogenetic approach caused the appearance of a new section in ICD-11 - «Neurodevelopmental disorders». Twenty-one genes associated with the acquisition of reading and writing skills have been identified. Modern studies demonstrate the connection of neuropsychological prerequisites for reading and writing, and clinical phenotypes of dyslexia with changes in specific loci. It is assumed that there are different molecular genetic bases for dyslexia and dysgraphia depending on ethnicity, orthographic features of language, including logographic features. Pleiotropy of genes is a cause of comorbidity of reading and writing disorders with attention deficit and hyperactivity disorder, specific speech articulation disorders, and dyscalculia. A key function of many of the identified genes is their involvement in the processes of neurogenesis. Their dysfunctions cause atypical neuronal migration, ectopic formation, inadequate axonal growth, and dendrite branching at the early stage of brain development. Morphological changes can distort the correct distribution and/or integration of linguistic stimuli in critical brain areas, leading to abnormalities in phonology, semantics, spelling, and general reading comprehension. The knowledge gained can form the basis for the development of risk models for dysgraphia and dyslexia formation and be used as a diagnostic and/or screening tool, which is important for evidence-based correction, optimization of academic performance, and mitigation of psychosocial consequences.
Topics: Humans; Agraphia; Dyslexia; Genetic Background; Brain; Language
PubMed: 37315241
DOI: 10.17116/jnevro202312305148 -
Frontiers in Neurology 2023Carriers of Fragile X premutation may have associated medical comorbidities, such as Fragile X-associated tremor and ataxia (FXTAS) and Fragile X-associated premature...
OBJECTIVE
Carriers of Fragile X premutation may have associated medical comorbidities, such as Fragile X-associated tremor and ataxia (FXTAS) and Fragile X-associated premature ovarian insufficiency (FXPOI). We examined the Fragile X premutation effect on cognition, and we assumed that there is a direct correlation between the continuous spectrum of specific learning and attention deficits to the number of CGG repeats on the gene.
METHODS
A total of 108 women were referred to our center due to a related Fragile X syndrome (FXS) patient, 79 women carried a premutation of 56-199 repeats, and 19 women carried a full mutation of more than 200 CGG repeats on gene. Genetic results of CGG repeats, demographic information, structured questionnaires for ADHD, learning disabilities of language and mathematics, and independence level were analyzed in women carrying the premutation and compared to the group carrying the full mutation. Women with FXS and FXTAS were excluded.
RESULTS
When analyzed as a continuum, there was a significant increase in the following complaints which were associated with a higher number of repeats: specific daily function skills such as driving a car, writing checks, disorientation in directions, and also specific learning difficulties such as spelling and math difficulties. Additionally, when tested as a categorical independent variable, we observe that women with the full mutation were more likely to have ADHD or other learning disability diagnoses in the past than during premutation (<200 CGG repetitions).
CONCLUSION
Specific learning and attention difficulties and resulting daily function difficulties correlate with an increased number of CGG repeats and are more likely to be associated as a common feature of premutation and full mutation in a female premutation carrier. Despite evidence of learning and attention difficulties, it is encouraging that most female carriers of the premutation and full mutation function well in most areas. Nevertheless, they face significant difficulties in specific areas of functioning such as driving, and confusion in times and schedules. Those daily function skills are mostly impacted by dyscalculia, right and left disorientation, and attention difficulties. This may aid to design specific interventions to address specific learning deficits in order to improve daily function skills and quality of life.
PubMed: 37200782
DOI: 10.3389/fneur.2023.1135630 -
Zhurnal Nevrologii I Psikhiatrii Imeni... 2023This study was to study the features of cognitive disorders in children with dyscalculia.
OBJECTIVE
This study was to study the features of cognitive disorders in children with dyscalculia.
MATERIAL AND METHODS
The main study group included 48 children aged 8 to 10 years with manifestations of dyscalculia. The control group consisted of 30 children aged 8 to 10 years without manifestations of learning disabilities and other neuropsychiatric disorders. The following research methods were used in the work: the SNAP-IY scale for assessing concomitant manifestations of attention deficit hyperactivity disorder, the L.D. Malkova, «Working memory» technique for the quantitative assessment of working memory, TOVA computer test for the quantitative assessment of attention disorders and impulsiveness.
RESULTS
The study showed that only in 4 cases (8.3%) dyscalculia was of an isolated nature, without concomitant neuropsychiatric disorders. Most often, manifestations of attention deficit hyperactivity disorder (ADHD) were recorded in children with dyscalculia - 33 (68.8%) children and manifestations of other learning disorders (dyslexia - 27 (56.3%) children, dysgraphia - 22 (45.8%) children). In 20 (41.7%) cases, children in the study group had asthenic symptoms. When comparing the results of working memory testing in the study group, the number of correct answers was significantly lower than in the control group. Indicators of the TOVA psychophysiological test in children with dyscalculia showed a statistically significant increase in the number of inattention errors both in the first and second half of the test, compared with children from the control group.
CONCLUSION
Thus, dyscalculia should be considered not only as a disorder of arithmetic skills, but also as a disorder based on multiple cognitive dysfunctions, such as working memory dysfunction, dysfunction of attention.
Topics: Humans; Child; Dyscalculia; Learning Disabilities; Dyslexia; Cognition Disorders; Attention Deficit Disorder with Hyperactivity; Cognitive Dysfunction
PubMed: 37084370
DOI: 10.17116/jnevro202312304185 -
Brain Sciences Feb 2023Subitizing is the ability to enumerate small quantities efficiently and automatically. Counting is a strategy adopted for larger numerosities resulting in a near linear...
Subitizing is the ability to enumerate small quantities efficiently and automatically. Counting is a strategy adopted for larger numerosities resulting in a near linear increase in response time with each increase in quantity. Some developmental studies suggest that being able to subitize efficiently may be a predictor of later arithmetical ability. Being able to enumerate small quantities efficiently may be necessary for at least some aspects of arithmetical skill and understanding to develop. According to this view, arithmetic ability ultimately depends upon subitizing. If this were the case, when acquired brain injury results in impaired performance on subitizing tasks, mathematical performance may also be impaired. The following study tested eleven healthy control participants and nine chronic patients with acquired brain injury on tasks focused on visual enumeration, addition and multiplication to explore a potential relationship between subitizing ability and calculation performance. No overall correlations were found between subitizing and addition or multiplication speed. However, a very clear subitizing impairment was found in two patients who then demonstrated very different levels of preserved addition skills. The dissociations found and the large inter-individual variability supports a more componential view of arithmetical ability.
PubMed: 36979191
DOI: 10.3390/brainsci13030381 -
Research in Developmental Disabilities May 2023The role of domain-general cognitive abilities in the etiology of Developmental Dyscalculia (DD) is a hotly debated issue.
BACKGROUND
The role of domain-general cognitive abilities in the etiology of Developmental Dyscalculia (DD) is a hotly debated issue.
AIMS
In the present study, we tested whether WISC-IV cognitive profiles can be useful to single out DD.
METHODS AND PROCEDURES
Using a stringent 2-SD cutoff in a standardized numeracy battery, we identified children with DD (N = 43) within a clinical sample referred for assessment of learning disability and compared them in terms of WISC cognitive indexes to the remaining children without DD (N = 100) employing cross-validated logistic regression.
OUTCOMES AND RESULTS
Both groups showed higher Verbal Comprehension and Perceptual Reasoning than Working Memory and Processing Speed, and DD scores were generally lower. Predictive accuracy of WISC indexes in identifying DD individuals was low (AUC = 0.67) and it dropped to chance level in discriminating DD from selected controls (N = 43) with average math performance but matched on global IQ. The inclusion of a visuospatial memory score as an additional predictor did not improve classification accuracy.
CONCLUSIONS AND IMPLICATIONS
These results demonstrate that cognitive profiles do not reliably discriminate DD from non-DD children, thereby weakening the appeal of domain-general accounts.
Topics: Child; Humans; Dyscalculia; Learning Disabilities; Memory, Short-Term; Wechsler Scales; Comprehension
PubMed: 36933361
DOI: 10.1016/j.ridd.2023.104478