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Journal of Neurosurgery. Case Lessons Mar 2023Apraxia of speech is a disorder of speech-motor planning in which articulation is effortful and error-prone despite normal strength of the articulators. Phonological...
BACKGROUND
Apraxia of speech is a disorder of speech-motor planning in which articulation is effortful and error-prone despite normal strength of the articulators. Phonological alexia and agraphia are disorders of reading and writing disproportionately affecting unfamiliar words. These disorders are almost always accompanied by aphasia.
OBSERVATIONS
A 36-year-old woman underwent resection of a grade IV astrocytoma based in the left middle precentral gyrus, including a cortical site associated with speech arrest during electrocortical stimulation mapping. Following surgery, she exhibited moderate apraxia of speech and difficulty with reading and spelling, both of which improved but persisted 6 months after surgery. A battery of speech and language assessments was administered, revealing preserved comprehension, naming, cognition, and orofacial praxis, with largely isolated deficits in speech-motor planning and the spelling and reading of nonwords.
LESSONS
This case describes a specific constellation of speech-motor and written language symptoms-apraxia of speech, phonological agraphia, and phonological alexia in the absence of aphasia-which the authors theorize may be attributable to disruption of a single process of "motor-phonological sequencing." The middle precentral gyrus may play an important role in the planning of motorically complex phonological sequences for production, independent of output modality.
PubMed: 37014023
DOI: 10.3171/CASE22504 -
Open Forum Infectious Diseases Mar 2023We present the case of a 61-year-old woman with a history of orthotopic heart transplant who was hospitalized with new-onset headache. Magnetic resonance imaging (MRI)...
We present the case of a 61-year-old woman with a history of orthotopic heart transplant who was hospitalized with new-onset headache. Magnetic resonance imaging (MRI) of the brain revealed T2 hyperintense signal involving the left occipital lobe with leptomeningeal enhancement and mild vasogenic edema. Initial neurologic examination was normal; however, after 7 days she developed imbalance, visual disturbances, night sweats, bradyphrenia, alexia without agraphia, and right hemianopsia. Brain MRI showed enlargement of the left occipital mass and worsening edema. Stereotactic needle biopsy showed nondiagnostic necrosis. The patient continued to deteriorate despite dexamethasone. Cerebrospinal fluid (CSF) suggested infection, and cytomegalovirus CSF polymerase chain reaction (PCR) was positive. The patient received vancomycin, imipenem, and ganciclovir. After obtaining a positive serum beta-D-glucan (Fungitell), amphotericin was added. Despite best medical efforts, the patient died. Postmortem broad-range PCR sequencing of the brain tissue was positive for rare amoeba .
PubMed: 37008568
DOI: 10.1093/ofid/ofad094 -
Deep Learning and Procrustes Analysis for Early Dysgraphia Risk Detection with a Tablet Application.Life (Basel, Switzerland) Feb 2023Dysgraphia is a neurodevelopmental disorder specific to handwriting. Classical diagnosis is based on the evaluation of speed and quality of the final handwritten text:...
Dysgraphia is a neurodevelopmental disorder specific to handwriting. Classical diagnosis is based on the evaluation of speed and quality of the final handwritten text: it is therefore delayed as it is conducted only when handwriting is mastered, in addition to being highly language-dependent and not always easily accessible. This work presents a solution able to anticipate dysgraphia screening when handwriting has not been learned yet, in order to prevent negative consequences on the individuals' academic and daily life. To quantitatively measure handwriting-related characteristics and monitor their evolution over time, we leveraged the Play-Draw-Write iPad application to collect data produced by children from the last year of kindergarten through the second year of elementary school. We developed a meta-model based on deep learning techniques (ensemble techniques and Quasi-SVM) which receives as input raw signals collected after a processing phase based on dimensionality reduction techniques (autoencoder and Time2Vec) and mathematical tools for high-level feature extraction (Procrustes Analysis). The final dysgraphia classifier can identify "at-risk" children with 84.62% Accuracy and 100% Precision more than two years earlier than current diagnostic techniques.
PubMed: 36983754
DOI: 10.3390/life13030598 -
Children (Basel, Switzerland) Feb 2023The purpose of this study was to analyze the relationship between the quality and speed of handwriting and the process characteristics of the handwriting of children in...
The purpose of this study was to analyze the relationship between the quality and speed of handwriting and the process characteristics of the handwriting of children in the second grade of elementary school considered as a function of age and gender. A sample of 57 children (mean age 7.25 years, SD 0.43) participated in the study. The Concise Assessment Method for Children's Handwriting (BHK) was used to assess the quality and speed of handwriting. The characteristics of the process of handwriting were assessed using MovAlyzeR software. The handwriting of boys showed a significantly greater number of strokes and slanted more to the right than the handwriting of girls. Handwriting quality and speed significantly correlated with several process characteristics: the number of strokes, reaction time, duration, relative pen-down duration, average pen pressure, vertical size, horizontal size, road length, and average absolute velocity. This research contributes to the construction of normative values in the process characteristics of the handwriting of elementary school children and provides a promising step towards the early identification of difficulties that can lead to dysgraphia, thus preventing later difficulties in handwriting.
PubMed: 36980003
DOI: 10.3390/children10030445 -
Cephalalgia : An International Journal... Apr 2023Headache with neurologic deficits and cerebrospinal fluid lymphocytosis, previously also termed pseudomigraine with temporary neurologic symptoms and lymphocytic... (Review)
Review
BACKGROUND
Headache with neurologic deficits and cerebrospinal fluid lymphocytosis, previously also termed pseudomigraine with temporary neurologic symptoms and lymphocytic pleocytosis, is a self-limiting syndrome characterized by moderate to severe headache associated with focal neurological deficits occurring in the context of lymphocytosis in the cerebrospinal fluid. As a consequence of its rarity, data regarding headache with neurologic deficits and cerebrospinal fluid lymphocytosis is sparse. Therefore, we conducted this review to analyze data related to 93 patients of headache with neurologic deficits and cerebrospinal fluid lymphocytosis, to characterize their demographics, clinical manifestations, investigations and treatment options.
METHODS
We performed a systematic review of cases reported through PubMed and Google scholar database, using Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocol. Keywords used were 'Headache with Neurologic Deficits and cerebrospinal fluid lymphocytosis', 'Headache with neurologic deficits and cerebrospinal fluid lymphocytosis syndrome'. The quality of the included studies was assessed using the Joanna Briggs Institute Critical Appraisal Tool.
RESULTS
We analyzed a total of 93 cases of headache with neurologic deficits and cerebrospinal fluid lymphocytosis with a mean age of 28.8 years at onset. Seventy patients (75.2%) were adults, while 23 (24.7%) belonged to the pediatric age group. Comparing these groups, mean age at onset was 32.5 years and 14.3 years, respectively. The average duration of follow-up was 11.08 months. Thirty percent of patients experienced relapsing episodes of headache with neurologic deficits and cerebrospinal fluid lymphocytosis symptoms. The most common type of headache reported was unilateral severe throbbing episodic headache. Other associated symptoms included sensory deficit (60%) and motor deficits (54.8%). The least common symptoms were nystagmus and agraphia, which were reported in one patient each. Antiviral agents were a common treatment option in the acute phase (n = 23 patients [23.6%]), while Flunarizine was the most commonly used agent in the chronic setting (n = 3 patients [3.2%]). While most of the patients had normal brain magnetic resonance imaging, 20 patients had magnetic resonance imaging abnormalities, including (but not limited to) non-specific white matter lesions (eight patients) and meningeal enhancement (six patients). The most common electroencephalographic findings included diffuse and focal slowing. The mean cerebrospinal fluid opening-pressure was 240.5 mmHO. Cerebrospinal fluid protein was elevated in 59 (63.4%) patients, with a mean value of 114 mg/dL. Two patients in our cohort were found to have cerebrospinal fluid oligoclonal bands.
CONCLUSION
Headache with neurologic deficits and cerebrospinal fluid lymphocytosis tends to affect young individuals with a slight male predominance. Unilateral severe throbbing episodic headache with associated hemi-paresthesia and hemiparesis were the most common symptoms based on our review. Elevated cerebrospinal fluid opening-pressure can be seen in headache with neurologic deficits and cerebrospinal fluid lymphocytosis syndrome. Early recognition of the syndrome is paramount. Antivirals were found to be among the most widely used treatments in the acute setting. Magnetic resonance imaging of the brain is mostly normal. Diffuse and focal slowing were among the most common electroencephalographic findings. Cerebral flow abnormalities on perfusion scans are not uncommon in headache with neurologic deficits and cerebrospinal fluid lymphocytosis. Prospective studies with a larger sample size are needed to validate our findings and guide the clinical care of these patients.
Topics: Adult; Humans; Male; Child; Female; Lymphocytosis; Prospective Studies; Headache; Cerebrospinal Fluid Pressure; Brain
PubMed: 36856002
DOI: 10.1177/03331024231157694 -
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 -
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