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Journal of Neurovirology Oct 2023Intensive immunosuppression has enabled liver transplantation even in recipients with preformed donor-specific antibodies (DSA), an independent risk factor for graft...
Intensive immunosuppression has enabled liver transplantation even in recipients with preformed donor-specific antibodies (DSA), an independent risk factor for graft rejection. However, these recipients may also be at high risk of progressive multifocal encephalopathy (PML) due to the comorbid immunosuppressed status. A 58-year-old woman presented with self-limited focal-to-bilateral tonic-clonic seizures 9 months after liver transplantation. She was desensitized using rituximab and plasma exchange before transplantation and was subsequently treated with steroids, tacrolimus, and everolimus after transplantation for her preformed DSA. Neurological examination revealed mild acalculia and agraphia. Cranial MRI showed asymmetric, cortex-sparing white matter lesions that increased over a week in the left frontal, left parietal, and right parieto-occipital lobes. Polymerase chain reaction (PCR) of the cerebrospinal fluid for the JC supported the diagnosis of PML. Immune reconstitution by reducing the immunosuppressant dose stopped lesion expansion, and PCR of the cerebrospinal fluid for the JC virus became negative. Graft rejection occurred 2 months after immune reconstitution, requiring readjustment of immunosuppressants. Forty-eight months after PML onset, the patient lived at home without disabling deficits. Intensive immunosuppression may predispose recipients to PML after liver transplantation with preformed DSA. Early immune reconstitution and careful monitoring of graft rejection may help improve outcomes.
Topics: Humans; Female; Middle Aged; Leukoencephalopathy, Progressive Multifocal; Liver Transplantation; Living Donors; JC Virus; Immunosuppressive Agents
PubMed: 37668873
DOI: 10.1007/s13365-023-01171-x -
Computer Methods and Programs in... Apr 2024Dynamic handwriting analysis, due to its noninvasive and readily accessible nature, has emerged as a vital adjunctive method for the early diagnosis of Parkinson's...
BACKGROUND AND OBJECTIVES
Dynamic handwriting analysis, due to its noninvasive and readily accessible nature, has emerged as a vital adjunctive method for the early diagnosis of Parkinson's disease (PD). An essential step involves analysing subtle variations in signals to quantify PD dysgraphia. Although previous studies have explored extracting features from the overall signal, they may ignore the potential importance of local signal segments. In this study, we propose a lightweight network architecture to analyse dynamic handwriting signal segments of patients and present visual diagnostic results, providing an efficient diagnostic method.
METHODS
To analyse subtle variations in handwriting, we investigate time-dependent patterns in local representation of handwriting signals. Specifically, we segment the handwriting signal into fixed-length sequential segments and design a compact one-dimensional (1D) hybrid network to extract discriminative temporal features for classifying each local segment. Finally, the category of the handwriting signal is fully diagnosed through a majority voting scheme.
RESULTS
The proposed method achieves impressive diagnostic performance on the new DraWritePD dataset (with an accuracy of 96.2%, sensitivity of 94.5% and specificity of 97.3%) and the well-established PaHaW dataset (with an accuracy of 90.7%, sensitivity of 94.3% and specificity of 87.5%). Moreover, the network architecture stands out for its excellent lightweight design, occupying a mere 0.084M parameters, with only 0.59M floating-point operations. It also exhibits nearly real-time CPU inference performance, with the inference time for a single handwriting signal ranging from 0.106 to 0.220 s.
CONCLUSIONS
We present a series of experiments with extensive analysis, which systematically demonstrate the effectiveness and efficiency of the proposed method in quantifying dysgraphia for a precise diagnosis of PD.
Topics: Humans; Parkinson Disease; Agraphia; Handwriting
PubMed: 38364361
DOI: 10.1016/j.cmpb.2024.108066 -
Neurological Sciences : Official... Apr 2024Corticobasal syndrome (CBS) is typically asymmetric. Case reports suggest that left-hemisphere CBS (lhCBS) is associated with major language impairment, and...
BACKGROUND
Corticobasal syndrome (CBS) is typically asymmetric. Case reports suggest that left-hemisphere CBS (lhCBS) is associated with major language impairment, and right-hemisphere CBS (rhCBS) is associated with major visuospatial deficits, but no group study has ever verified these observations. In our study, we enrolled 49 patients with CBS, classified them as lhCBS or rhCBS based on asymmetry of hypometabolism on brain FDG-PET and compared their cognitive and behavioural profiles.
METHODS
We defined asymmetry of hypometabolism upon visual inspection of qualitative PET images and confirmed it through paired comparison of left- and right-hemisphere FDG uptake values. The two groups were also matched for severity of hypometabolism within the more affected and more preserved hemispheres, to unravel differences in the cognitive profiles ascribable specifically to each hemisphere's functional specializations. All patients were assessed for memory, language, executive and visuospatial deficits, apraxia, neglect, dyscalculia, agraphia and behavioural disturbances.
RESULTS
LhCBS (n. 26) and rhCBS (n. 23) patients did not differ for demographics, disease duration and severity of global cognitive impairment. The two cognitive profiles were largely overlapping, with two exceptions: Digit span forward was poorer in lhCBS, and visual neglect was more frequent in rhCBS.
CONCLUSIONS
After balancing out patients for hemispheric hypometabolism, we did not confirm worse language or visuospatial deficits in, respectively, lhCBS and rhCBS. However, verbal short-term memory was more impaired in lhCBS, and spatial attention was more impaired in rhCBS. Both of these functions reflect the functional specialization of the left and right fronto-parietal pathways, i.e. of the main loci of neurodegeneration in CBS.
Topics: Humans; Fluorodeoxyglucose F18; Corticobasal Degeneration; Research Design; Brain; Positron-Emission Tomography; Cognition
PubMed: 37889380
DOI: 10.1007/s10072-023-07148-2 -
International Journal of Language &... 2024Stroke profoundly affects quality of life (QOL), including loss of employment, reduced social activity, shrinking social networks and low mood. Dysgraphia (impaired...
BACKGROUND
Stroke profoundly affects quality of life (QOL), including loss of employment, reduced social activity, shrinking social networks and low mood. Dysgraphia (impaired writing) is a common symptom of aphasia yet is rarely targeted in rehabilitation. Recent technological advances might challenge this, since much communication is now conducted digitally through writing. The rehabilitation of writing may therefore help to address the wider consequences of stroke and aphasia.
AIMS
Can assistive technology (AT) training for people with dysgraphia: (1) improve written output, and are gains achieved only with AT? (2) improve reading comprehension scores, and are gains achieved only with AT? and (3) affect social participation, mood or QOL METHODS AND PROCEDURES: DESIGN: A mixed-methods, repeated measures, small group study design was adopted (qualitative outcomes will be reported elsewhere).
PARTICIPANTS
Recruited from community settings, for example, Stroke Association communication support groups.
INCLUSION CRITERIA
over 18 years old, aphasia due to stroke, acquired dysgraphia, writing more impaired than speech, fluent English prior to stroke, access to computer and Internet.
EXCLUSION CRITERIA
currently receiving speech and language therapy, significant cognitive impairment, neuromuscular/motor-speech impairments/structural abnormalities, developmental dyslexia, uncorrected visual/auditory impairments.
PROCEDURES
Screening and diagnostic assessments at time T1 (first baseline). Outcome measures at T1; repeated at T2 (second baseline), T3 (end of intervention), T4 (3-month follow up). Social participation assessment and cognitive monitoring at T2, T3, T4.
INTERVENTION
Seven-ten hours individual therapy weekly and additional email support. Participants were trained to operate Dragon NaturallySpeaking (speech to text package) and ClaroRead (read writing aloud). Outcome measures were administered on pen and paper (control) and on computer, with AT enabled only at T3, T4.
OUTCOMES AND RESULTS
Computer narrative writing was significantly improved by AT training (Friedman's χ (3) = 8.27, p = 0.041), indicating a compensatory effect of AT. Though reading comprehension significantly improved in the computer condition (Friedman's χ (3) = 21.07, p = 0.001), gains could not be attributed to the AT. Gains were achieved only when measures were administered on the keyboard, with AT enabled. Thus, a compensatory rather than remediatory effect was suggested. Social network size significantly increased; there were no significant changes in mood/QOL. Individual success rates varied.
CONCLUSION AND IMPLICATIONS
The customisable AT training was acceptable to participants and resulted in significantly improved narrative writing. Compensatory AT interventions are a useful adjunct to remediatory writing interventions and may particularly support functional writing.
WHAT THIS PAPER ADDS
What is already known on this subject Writing is rarely spared in aphasia and may present as the most impaired communication modality. Yet, people with aphasia report that writing is seldom included in their rehabilitation. Many communication activities are now conducted digitally through writing, therefore rehabilitation of this is more important than ever before. This study sought to address whether an assistive technology (AT) software package can improve writing and whether any changes were compensatory or remediatory. What this study adds to existing knowledge This group study found that AT training led to gains in written discourse and social network in people with aphasia and dysgraphia. Gains were not replicated in handwritten tasks, suggesting this was a compensatory therapeutic approach. What are the clinical implications of this work? AT programs such as this may present speech and language therapists with a practical, pragmatic adjunct to writing or typing therapy, particularly for clients with chronic, intractable impairments for whom remediatory therapy may have a low chance of success.
Topics: Humans; Aphasia; Agraphia; Female; Writing; Reading; Male; Middle Aged; Aged; Comprehension; Self-Help Devices; Adult; Software; Stroke Rehabilitation; Stroke; Quality of Life; Treatment Outcome; Therapy, Computer-Assisted
PubMed: 37966065
DOI: 10.1111/1460-6984.12975 -
Rinsho Shinkeigaku = Clinical Neurology Mar 2024A 58-year-old, right-handed man noticed difficulty in typing and speech. On day 3 after onset, the day of admission, he had frontal lobe dysfunction including verbal...
A 58-year-old, right-handed man noticed difficulty in typing and speech. On day 3 after onset, the day of admission, he had frontal lobe dysfunction including verbal fluency impairment and impairment of recent memory, although he did not have apraxia or visual agnosia. Moreover, he had difficulty typing in romaji, especially words containing contracted or double consonant sounds, although he was able to do this before onset by visually checking the keyboard. He had mild dysgraphia. MRI showed an infarct in the genu and posterior limb of the left internal capsule. SPECT revealed low-uptake lesions in the left frontal lobe. In the present case, we consider that the subcortical infarction disrupted the network between the thalamus and frontal lobe, resulting in dystypia due to difficulty with recalling romaji spelling.
Topics: Male; Humans; Middle Aged; Ischemic Stroke; Cerebral Infarction; Agnosia; Magnetic Resonance Imaging; Language
PubMed: 38369328
DOI: 10.5692/clinicalneurol.cn-001904 -
Cognitive Neuropsychology Jun 2024We present a case study detailing cognitive performance, functional neuroimaging, and effects of a hypothesis-driven treatment in a 10-year-old girl diagnosed with...
We present a case study detailing cognitive performance, functional neuroimaging, and effects of a hypothesis-driven treatment in a 10-year-old girl diagnosed with complete, isolated corpus callosum agenesis. Despite having average overall intellectual abilities, the girl exhibited profound surface dyslexia and dysgraphia. Spelling treatment significantly and persistently improved her spelling of trained irregular words, and this improvement generalized to reading accuracy and speed of trained words. Diffusion weighted imaging revealed strengthened intrahemispheric white matter connectivity of the left temporal cortex after treatment and identified interhemispheric connectivity between the occipital lobes, likely facilitated by a pathway crossing the midline via the posterior commissure. This case underlines the corpus callosum's critical role in lexical reading and writing. It demonstrates that spelling treatment may enhance interhemispheric connectivity in corpus callosum agenesis through alternative pathways, boosting the development of a more efficient functional organization of the visual word form area within the left temporo-occipital cortex.
PubMed: 38942485
DOI: 10.1080/02643294.2024.2368876 -
Physiotherapy Theory and Practice Oct 2023This report examines the effects of a multimodal rehabilitation program which includes cognitive, physical, and somatosensory rehabilitation after right temporo-parietal...
The effects of cognitive, physical, and somatosensory rehabilitation after right temporo-parietal tumor resection on cognitive, motor, somatosensory, and electrophysiological parameters: A case report.
INTRODUCTION
This report examines the effects of a multimodal rehabilitation program which includes cognitive, physical, and somatosensory rehabilitation after right temporo-parietal tumor resection on cognitive, motor, somatosensory, and electrophysiological parameters.
CASE DESCRIPTION
A 22-year-old patient presented with sensory loss in the dominant left hand and reduced writing ability after right temporo-parietal lobe resection. Cognitive, motor, and sensory evaluations were carried out pre and post-treatment. The patient's spontaneous electroencephalo-gram (EEG) and an EEG during application of transcutaneous electrical nerve stimulation (TENS) (TENS EEG) were recorded. As a reference for the patient's electrophysiological values, EEGs of 4 healthy individuals were also taken. Over a period of 1 year, the patient received multimodal rehabilitation which includes cognitive, physical, and somato-sensory rehabilitation on 2 days each week.
OUTCOMES
An improvement of the patient's cognitive capacities, motor strength, superficial, deep and cortical sensations was achieved. After rehabilitation, an increase in parietal and occipital alpha activity as well as in frontal and parietal beta activity was seen both in spontaneous EEG and in TENS EEG. With increasing TENS intensity, alpha and beta power increased as well.
CONCLUSION
Our findings suggest that a multimodal rehabilitation program may improve cognitive, sensory, and motor effects after resection due to tumor surgery.
Topics: Humans; Young Adult; Adult; Parietal Lobe; Hand; Electroencephalography; Cognition; Neoplasms; Transcutaneous Electric Nerve Stimulation
PubMed: 35436161
DOI: 10.1080/09593985.2022.2064787 -
American Journal of Medical Genetics.... Jun 2024Heterozygous pathogenic variants in KDM6B have recently been associated to a rare neurodevelopmental disorder referred to as "Neurodevelopmental disorder with coarse... (Review)
Review
Heterozygous pathogenic variants in KDM6B have recently been associated to a rare neurodevelopmental disorder referred to as "Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities" and characterized by non-pathognomonic facial and body dysmorphisms, a wide range of neurodevelopmental and behavioral disorders and nonspecific neuroradiological findings. KDM6B encodes a histone demethylase, expressed in different tissues during development, which regulates gene expression through the modulation of chromatin accessibility by RNA polymerase. We herein describe a 11-year-old male patient carrying a novel de novo pathogenic variant in KDM6B exhibiting facial dysmorphisms, dysgraphia, behavioral traits relatable to oppositional defiant, autism spectrum, and attention deficit hyperactivity disorders, a single seizure episode, and a neuroimaging finding of a single cerebellar heterotopic nodule, never described to date in this genetic condition. These findings expand the phenotypic spectrum of this syndrome, highlighting the potential role for KDM6B in cerebellar development and providing valuable insights for genetic counseling.
Topics: Humans; Male; Child; Jumonji Domain-Containing Histone Demethylases; Neurodevelopmental Disorders; Cerebellum; Phenotype; Mutation
PubMed: 38326731
DOI: 10.1002/ajmg.a.63555 -
Acta Neurologica Belgica Oct 2023
Topics: Male; Humans; Aged; Alexia, Pure; COVID-19; Stroke; Agraphia
PubMed: 35750954
DOI: 10.1007/s13760-022-02014-y -
Neuropsychological Rehabilitation Oct 2023Dysgraphia is highly prevalent in children with attention deficit hyperactivity disorder (ADHD) and adversely affects academic and developmental trajectories. To date,...
Dysgraphia is highly prevalent in children with attention deficit hyperactivity disorder (ADHD) and adversely affects academic and developmental trajectories. To date, no study has rigorously examined the effects of a training program on handwriting quality in this specific population. Our objective was thus to develop an innovative program - we entitled PRO-PEN - and to evaluate its effects. We planned a multiple-baseline design across participants from grade 3-5, with direct inter-subject and systematic replications. Children of Group 1 ( = 4) were diagnosed with ADHD. Systematic replication was conducted in a second group of participants (Group 2, = 4) with a diagnosis of developmental coordination disorder in addition to ADHD. The primary assessment focused on quality of handwriting. Generalization measures evaluated diverse neuropsychological and behavioural domains. In Group 1, effect sizes regarding handwriting quality were large (Tau > .60). Improvement was also observed for children of Group 2 (Tau > .50). Importantly, the positive effects persisted three months after the end of the training. Generalization effects extended beyond handwriting sphere. Therefore, PRO-PEN can be considered a promising training program for improving handwriting quality in ADHD, with a possible impact on wide cerebral regulation loops underpinning both handwriting and other neuropsychological and behavioural domains.
Topics: Humans; Child; Attention Deficit Disorder with Hyperactivity; Psychomotor Performance; Motor Skills; Research Design; Handwriting
PubMed: 36007100
DOI: 10.1080/09602011.2022.2114503