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Sensors (Basel, Switzerland) Feb 2023Dysgraphia is a learning disability that causes handwritten production below expectations. Its diagnosis is delayed until the completion of handwriting development. To...
Dysgraphia is a learning disability that causes handwritten production below expectations. Its diagnosis is delayed until the completion of handwriting development. To allow a preventive training program, abilities not directly related to handwriting should be evaluated, and one of them is visual perception. To investigate the role of visual perception in handwriting skills, we gamified standard clinical visual perception tests to be played while wearing an eye tracker at three difficulty levels. Then, we identified children at risk of dysgraphia through the means of a handwriting speed test. Five machine learning models were constructed to predict if the child was at risk, using the CatBoost algorithm with Nested Cross-Validation, with combinations of game performance, eye-tracking, and drawing data as predictors. A total of 53 children participated in the study. The machine learning models obtained good results, particularly with game performances as predictors (F1 score: 0.77 train, 0.71 test). SHAP explainer was used to identify the most impactful features. The game reached an excellent usability score (89.4 ± 9.6). These results are promising to suggest a new tool for dysgraphia early screening based on visual perception skills.
Topics: Child; Humans; Eye-Tracking Technology; Agraphia; Visual Perception; Algorithms; Handwriting
PubMed: 36850364
DOI: 10.3390/s23041765 -
Revista de Neurologia Mar 2023Moyamoya disease is a progressive steno-occlusive disease of the major intracranial arteries. Affected individuals are at risk for intracranial hemorrhagic or ischemic...
INTRODUCTION
Moyamoya disease is a progressive steno-occlusive disease of the major intracranial arteries. Affected individuals are at risk for intracranial hemorrhagic or ischemic stroke, cognitive impairment, and developmental delays. Several susceptibility genes have been identified. The p.R4810K variant in the RNF213 gene has been identified in 95% of patients with familial moyamoya disease.
CASE REPORT
We present the case of a 15-year-old adolescent girl who presented with chief complaints of dysgraphia, lack of coordination in the right hand, with two months of evolution. Cerebral magnetic resonance imaging revealed several ischemic lesions with different rates of evolution and magnetic resonance angiography showed multiple subocclusive stenoses. In the study of the sequences of the coding regions and intronic flanking regions (±8 bp) of the RNF213 gene, the variant c.12185G>A, p.(Arg4062Gln) was detected in heterozygosity in the RNF213 gene. This result indicates that the patient is heterozygous for the c.12185G>A, p.(Arg4062Gln) variant in the RNF213 gene. The detected variant has already been reported in the literature as a founder variant in the Asian population, associated with moyamoya syndrome. This variant is described in ClinVar as a variant of unknown clinical significance? Furthermore, it is not described in population databases (dbSNP, ESP, gnomAD).
CONCLUSION
To our knowledge, the p.(Arg406262Gln) variant has been reported in three Japanese moyamoya disease patients and one European. Therefore, our patient was the second European moyamoya disease patient with this variant identified.
Topics: Female; Humans; Adolescent; Moyamoya Disease; Genetic Predisposition to Disease; Transcription Factors; Magnetic Resonance Angiography; Ubiquitin-Protein Ligases; Adenosine Triphosphatases
PubMed: 36843178
DOI: 10.33588/rn.7605.2021392 -
Frontiers in Neurology 2023Chimeric antigen receptor T-cell therapy-related neurotoxicity is a novel cytokine-mediated neurological syndrome that may present with a broad spectrum of...
INTRODUCTION
Chimeric antigen receptor T-cell therapy-related neurotoxicity is a novel cytokine-mediated neurological syndrome that may present with a broad spectrum of manifestations. Descriptions of novel distinctive features are pivotal to untangling this condition's clinical and instrumental signature in order to inform diagnosis and pathophysiology.
CASE
A 27-year-old female patient received anti-CD19 CAR T cells for a refractory primary mediastinal B-cell lymphoma. At 6 days after the infusion, she developed mild ideo-motor slowing, dysgraphia, and drowsiness. Despite specific treatment with dexamethasone, her neurological status progressively worsened to a comatose state within 24 h. EEG and CSF analyses were non-specific, showing background slowing and inflammatory findings. Brain MRI revealed multiple focal punctate areas of T2-weighted hyperintensity localized in the body and isthmus of the corpus callosum. Following the administration of high-dose intravenous methylprednisolone, her neurological status resolved within 48 h. Notably, the follow-up brain MRI did not reveal any abnormalities in the corpus callosum, except for a reduction of fractional anisotropy.
CONCLUSION
Reversible punctate inflammatory foci of the body and isthmus of the corpus callosum may represent a novel radiological finding of CAR T-cell therapy-related neurotoxicity.
PubMed: 36824415
DOI: 10.3389/fneur.2023.1125121 -
Undersea & Hyperbaric Medicine :... 2023Acute carbon monoxide (CO) intoxication may result in delayed neurological sequelae, which can include amnesia, ataxia, aphasia, emotional lability, disorientation,...
Acute carbon monoxide (CO) intoxication may result in delayed neurological sequelae, which can include amnesia, ataxia, aphasia, emotional lability, disorientation, dysphagia, and other manifestations. A 27-year-old man reported symptoms of aphasia with agraphia and alexia in a review after CO intoxication. The patient received outpatient speech therapy, as well as repeated sessions of hyperbaric oxygen for 15 days, interspersing speech therapy with hyperbaric oxygen therapy for two months. After this period of combined treatment the aphasic symptomatology remitted, and oral and written language was normal. The complete disappearance of aphasia with agraphia and alexia confirms the efficacy of the combined intervention. More data from large clinical studies are needed to assess the outcomes of hyperbaric oxygen treatment in patients with delayed neurological sequelae after CO intoxication, but this case suggests it may be a good therapeutic option in combination with specific speech therapy.
Topics: Male; Humans; Adult; Hyperbaric Oxygenation; Carbon Monoxide; Agraphia; Speech Therapy; Aphasia; Carbon Monoxide Poisoning; Dyslexia
PubMed: 36820801
DOI: 10.22462/01.01.2023.15 -
Cognitive Neuropsychology 2022The present study explores the extent to which properties of abstract graphemic representations are maintained at the post-graphemic level of graphic motor plans, where...
The present study explores the extent to which properties of abstract graphemic representations are maintained at the post-graphemic level of graphic motor plans, where the sequences of writing strokes for producing the letters in a word are represented. On the basis of results from a stroke patient (NGN) who has a deficit affecting the activation of graphic motor plans, we explore the post-graphemic representation of 1) consonant/vowel status of letters; 2) geminate (double) letters, such as the BB in RABBIT; and 3) digraphs, such as the SH in SHIP. Through analyses of NGN's letter substitution errors, we conclude that 1) consonant-vowel status is not represented at the level of graphic motor plans; 2) geminates have special representations at the motor-plan level, as at the graphemic level; and 3) digraphs are represented by two separate single-letter graphic motor plans, and not by unitary digraph motor plans.
Topics: Humans; Stroke; Writing; Agraphia
PubMed: 36803202
DOI: 10.1080/02643294.2023.2178293 -
Frontiers in Human Neuroscience 2022Phonological impairment contributes to deficits in repetition and spoken naming in logopenic variant Primary Progressive Aphasia (lvPPA), but weakened phonology can also...
Phonological impairment contributes to deficits in repetition and spoken naming in logopenic variant Primary Progressive Aphasia (lvPPA), but weakened phonology can also affect written language skills. In this experimental case report, we demonstrate phonological text agraphia in a 71-year-old woman in the early stages of lvPPA that undermined her ability to write meaningful, grammatical sentences. We investigated the therapeutic value of a rigorous treatment protocol to strengthen phonological manipulation skills coupled with transcranial direct current stimulation (tDCS). Intervention took place 5 days a week for 2 weeks with active tDCS, followed by a 2-month rest period, and then a second period of phonological treatment with sham tDCS. Over the course of treatment, our participant demonstrated improved phonological transcoding and manipulation skills as well as marked improvement in the proportion of grammatically well-formed, meaningful written narratives. Improvements in spelling and letter selection were also observed. Treatment gains were documented during phonological intervention in both active tDCS and sham treatment phases and were maintained 2 months after the conclusion of intervention. Importantly, improvements were observed in the context of a progressive disorder. These data present compelling evidence regarding the impairment-based approach that targets compromised phonological skills, presenting opportunity for improving functional written communication skills relevant to the everyday lives of individuals with lvPPA.
PubMed: 36760227
DOI: 10.3389/fnhum.2022.1006350 -
Journal of Physical Therapy Science Feb 2023[Purpose] To assess the clinical applicability of a novel automated tractography tool named XTRACT during acute stroke rehabilitation. [Participants and Methods] Three...
[Purpose] To assess the clinical applicability of a novel automated tractography tool named XTRACT during acute stroke rehabilitation. [Participants and Methods] Three patients with left hemisphere stroke were sampled. Diffusion tensor images were acquired on the second week, and automated tractography was then applied. Tractography images and fractional anisotropy (FA) values in the corticospinal tract (CST) and arcuate fasciculus (AF) were assessed in relation to hemiparesis and aphasia. [Results] Patient 1 was nearly asymptomatic; FA in the left CST was 0.610 and that in the AF was 0.509. Patient 2 had severe hemiparesis and mild motor aphasia. Tractography images of the CST and AF were blurred; FA in the left CST was 0.295 and that in the AF was 0.304. Patient 3 showed no hemiparesis or aphasia at initial assessment. Tractography image of the CST was intact but that of the AF was less clear; FA in the left CST was 0.586 and that in the AF was 0.338. Considering the less clear images of the AF and lower FA value in Patients 2 and 3, further examinations for aphasia were performed, which revealed agraphia. [Conclusion] Visualization and quantification of neural fibers using automated tractography promoted planning acute care rehabilitative treatment in patients with stroke.
PubMed: 36744203
DOI: 10.1589/jpts.35.156 -
International Journal of Environmental... Jan 2023Pure agraphias are caused by graphemic buffer damage. The graphemic buffer stores graphemic representations that handle the transition from spelling lexicon to writing...
Pure agraphias are caused by graphemic buffer damage. The graphemic buffer stores graphemic representations that handle the transition from spelling lexicon to writing or oral spellings. The authors report a case of a crossed pure agraphia, following the post-surgical removal of a right frontal low-grade glioma in a right-handed French patient. He presented a pure agraphia displaying the features of a graphemic buffer impairment. Our patient only made spelling errors, whereas repetition and other oral language abilities remained perfect. We found a greater number of errors for longer stimuli, increased errors for the medially located graphemes, and agraphia for both words and non-words and error types, essentially consisting of omissions, substitutions, and letter transpositions. We also observed no significant effect of word frequency on spelling errors, but word length affected the rate of errors. The particularity of this case was linked to right frontal subcortical injuries in a right-handed subject. To our knowledge, it is the first report of a crossed pure agraphia caused by graphemic buffer impairment. Further studies are needed in order to analyse the role of subcortical structures, particularly the caudate nucleus in the graphemic buffer during writing tasks, as well as the participation of the non-dominant hemisphere in writing language.
Topics: Male; Humans; Agraphia; Language; Writing; Neuropsychological Tests
PubMed: 36674102
DOI: 10.3390/ijerph20021346 -
Cortex; a Journal Devoted To the Study... Feb 2023Studies investigating the effects of language intervention on the re-organization of language networks in chronic aphasia have resulted in mixed findings, likely related...
Studies investigating the effects of language intervention on the re-organization of language networks in chronic aphasia have resulted in mixed findings, likely related to-among other factors-the language function targeted during treatment. The present study investigated the effects of the type of treatment provided on neural reorganization. Seventy individuals with chronic stroke-induced aphasia, recruited from three research laboratories and meeting criteria for agrammatism, anomia or dysgraphia were assigned to either treatment (N = 51) or control (N = 19) groups. Participants in the treatment group received 12-weeks of language intervention targeting sentence comprehension/production, naming, or spelling. At baseline and post-testing, all participants performed an fMRI story comprehension task, with blocks of auditorily-presented stories alternated with blocks of reversed speech. Participants in the treatment, but not control, group significantly improved in the treated language domain. FMRI region-of-interest (ROI) analyses, conducted within regions that were either active (or homologous to active) regions in a group of 22 healthy participants on the story comprehension task, revealed a significant increase in activation from pre-to post-treatment in right-hemisphere homologues of these regions for participants in the sentence and spelling, but not naming, treatment groups, not predicted by left-hemisphere lesion size. For the sentence (but not the spelling) treatment group, activation changes within right-hemisphere homologues of language regions were positively associated with changes in measures of verb and sentence comprehension. These findings support previous research pointing to recruitment of right hemisphere tissue as a viable route for language recovery and suggest that sentence-level treatment may promote greater neuroplasticity on naturalistic, language comprehension tasks, compared to word-level treatment.
Topics: Humans; Magnetic Resonance Imaging; Stroke; Language; Aphasia, Broca; Comprehension
PubMed: 36610109
DOI: 10.1016/j.cortex.2022.11.008