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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 -
Rinsho Shinkeigaku = Clinical Neurology Aug 2023A 72-year-old male developed neurological symptoms such as difficulty in charging his electronic money card and making his mobile-phone call ten months before admission....
[Classical cortical superficial siderosis presenting as extensive higher brain dysfunction with hypoperfusion in the frontoparietal lobe on the I-IMP-SPECT: a case report].
A 72-year-old male developed neurological symptoms such as difficulty in charging his electronic money card and making his mobile-phone call ten months before admission. On admission, neurological examination revealed extensive higher brain dysfunction such as impairment in recent memory, executive function disorders, constructional disturbance, agraphia and acalculia. Brain MRI revealed a low intensity lesion on the surface of the cerebral cortex diffusely and symmetrically on T*-weighted images. MRI images are consistent with superficial siderosis. However, the lack of hemosiderin deposition in the brain stem and cerebellar hemisphere was atypical of the classical type of superficial siderosis. I-IMP-SPECT revealed hypoperfusion dominantly in the left hemisphere, particularly in the left frontal and parietal lobes. According to the Boston criteria, the patient with the cerebral microbleeds and cortical superficial siderosis was diagnosed with probable CAA (cerebral amyloid angiopathy).
Topics: Male; Humans; Aged; Siderosis; Brain Diseases; Cerebral Amyloid Angiopathy; Cerebral Cortex; Magnetic Resonance Imaging; Tomography, Emission-Computed, Single-Photon; Cerebral Hemorrhage
PubMed: 37518020
DOI: 10.5692/clinicalneurol.cn-001828 -
Cortex; a Journal Devoted To the Study... Sep 2023It has been suggested that Gerstmann's syndrome is the result of subcortical disconnection rather than emerging from damage of a multifunctional brain region within the...
It has been suggested that Gerstmann's syndrome is the result of subcortical disconnection rather than emerging from damage of a multifunctional brain region within the parietal lobe. However, patterns of white matter tract disconnection following parietal damage have been barely investigated. This single case study allows characterising Gerstmann's syndrome in terms of disconnected networks. We report the case of a left parietal patient affected by Gerstmann's tetrad: agraphia, acalculia, left/right orientation problems, and finger agnosia. Lesion mapping, atlas-based estimation of probability of disconnection, and DTI-based tractography revealed that the lesion was mainly located in the superior parietal lobule, and it caused disruption of both intraparietal tracts passing through the inferior parietal lobule (e.g., tracts connecting the angular, supramarginal, postcentral gyri, and the superior parietal lobule) and fronto-parietal long tracts (e.g., the superior longitudinal fasciculus). The lesion site appears to be located more superiorly as compared to the cerebral regions shown active by other studies during tasks impaired in the syndrome, and it reached the subcortical area potentially critical in the emergence of the syndrome, as hypothesised in previous studies. Importantly, the reconstruction of tracts connecting regions within the parietal lobe indicates that this critical subcortical area is mainly crossed by white matter tracts connecting the angular gyrus and the superior parietal lobule. Taken together, these findings suggest that this case study might be considered as empirical evidence of Gerstmann's tetrad caused by disconnection of intraparietal white matter tracts.
Topics: Humans; Gerstmann Syndrome; White Matter; Parietal Lobe; Brain; Agnosia
PubMed: 37478549
DOI: 10.1016/j.cortex.2023.05.016 -
Children (Basel, Switzerland) May 2023In Switzerland, psychomotor therapy (PMT) is a standard treatment for children with graphomotor impairments, but scientific evidence of its effectiveness is rare. To...
In Switzerland, psychomotor therapy (PMT) is a standard treatment for children with graphomotor impairments, but scientific evidence of its effectiveness is rare. To investigate the effectiveness of PMT, we conducted a randomised field trial (RFT). The sample consisted of 121 first and second graders with graphomotor impairments, some of whom met the criteria of developmental coordination disorder, while the remaining suffered from developmental dysgraphia. The treatments lasted over 5 months. Handwriting fluency and consistency were measured five times on a digitising tablet. All participating children completed a self-concept interview, and a standardised fine motor performance test twice. Psychomotor therapy significantly improved the fine motor skills of the therapy group compared to those of the waiting group. However, there was no evidence that the treated children improved more than the waiting children in terms of their graphomotor skills such as frequency, automaticity, and consistency of forming letters. Finally, the children of the therapy group showed partial improvements in their handwriting self-concept, while those of the waiting group children remained stable. This short-term RFT demonstrated the effectiveness of PMT in terms of fine motor skills and some aspects of the handwriting self-concept but showed no effects on handwriting fluency and consistency.
PubMed: 37371196
DOI: 10.3390/children10060964 -
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 -
Sensors (Basel, Switzerland) May 2023Handwriting learning disabilities, such as dysgraphia, have a serious negative impact on children's academic results, daily life and overall well-being. Early detection...
Handwriting learning disabilities, such as dysgraphia, have a serious negative impact on children's academic results, daily life and overall well-being. Early detection of dysgraphia facilitates an early start of targeted intervention. Several studies have investigated dysgraphia detection using machine learning algorithms with a digital tablet. However, these studies deployed classical machine learning algorithms with manual feature extraction and selection as well as binary classification: either dysgraphia or no dysgraphia. In this work, we investigated the fine grading of handwriting capabilities by predicting the SEMS score (between 0 and 12) with deep learning. Our approach provided a root-mean-square error of less than 1 with automatic instead of manual feature extraction and selection. Furthermore, the SensoGrip smart pen SensoGrip was used, i.e., a pen equipped with sensors to capture handwriting dynamics, instead of a tablet, enabling writing evaluation in more realistic scenarios.
Topics: Child; Humans; Deep Learning; Handwriting; Agraphia; Algorithms; Machine Learning
PubMed: 37299942
DOI: 10.3390/s23115215 -
Journal of Neuroscience Methods Jul 2023Writing and drawing orientation is rarely assessed in clinical routine, although it might have a potential value in detecting impaired verticality perception after right...
BACKGROUND
Writing and drawing orientation is rarely assessed in clinical routine, although it might have a potential value in detecting impaired verticality perception after right hemispheric stroke (RHS). Assessment tools and criteria must be conceived and validated. We therefore explored the clinimetric properties of a set of quantitative writing and drawing orientation criteria, their ranges of normality, and their tilt prevalence in RHS individuals.
NEW METHODS
We asked 69 individuals with subacute RHS and 64 matched healthy controls to write three lines and to copy the Gainotti Figure (house and trees). We determined six criteria referring to the orientation of writing and drawing main axes: for writing, the line and margin orientations, and for drawing, the tree, groundline, wall, and roofline orientations. Orientations were measured by using an electronic protractor from specific landmarks positioned by independent evaluators.
RESULTS
The set of criteria fulfilling all clinimetric properties (feasibility, measurability, reliability) comprised the line orientation of the writing and the wall and roofline orientations of the drawing. Writing and drawing tilts were frequent after RHS (about 30% by criterion).
COMPARISON WITH EXISTING METHODS
So far, graphomotor orientation was mostly tested qualitatively and could not be objectively appreciated in absence of validated tools and criteria, and without ranges of normality. Writing and drawing tilts may now be assessed both in routine clinical practice and research.
CONCLUSIONS
Our study paves the way for investigating the clinical determinants of graphomotor tilts, including impaired verticality perception, to better understand their underlying mechanisms.
Topics: Humans; Reproducibility of Results; Stroke; Space Perception; Writing
PubMed: 37295749
DOI: 10.1016/j.jneumeth.2023.109900 -
Journal of Ayurveda and Integrative... 2023Domestically, gas geysers are used in developing countries like India to supply hot water in bathrooms. These are of low economic value, with no requirement of...
Domestically, gas geysers are used in developing countries like India to supply hot water in bathrooms. These are of low economic value, with no requirement of electricity and easy installation, hence they are high in demand. A female patient of 14 year visited to a private Ayurved clinic on 27/12/2021 with complaints of difficulty in dysgraphia, dyslexia, dysphonia and fall (sometimes) while walking on uneven and unknown pathway. Four years ago, the patient landed into a vegetative state and was bed ridden, her condition was further diagnosed as Gas Geyser Syndrome. Here an effort has been put forth to reveal the concept of ayurvedic management adopted in a survivor of Gas Geyser Syndrome which is found to be effective. In Ayurveda the symptoms of Acute Gas Geyser syndrome can be correlated with Visha (Toxins) and its vishalakshana (Toxicity symptoms) wherein Murcha (Unconsciousness) and Sanyasa (Stage of Coma) are seen. The long term side effects of Gas Geyser Syndrome can be correlated with Vatavyadhi (Neurological disorders) as the stages of the disease manifestation presents with more neurological deficits. Ayurvedic intervention with internal medications along with the panchakarma procedures in the treatment of Gas geyser syndrome exhibits encouraging results which were seen in improving her cognition, memory and essential skills like writing, verbal communication, thinking skills, use of technology in socializing with the community.
PubMed: 37271063
DOI: 10.1016/j.jaim.2023.100713 -
Movement Disorders Clinical Practice May 2023
PubMed: 37205257
DOI: 10.1002/mdc3.13721