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Frontiers in Psychiatry 2024This case study examines the effective use of Augmentative and Alternative Communication (AAC) tools in enhancing communication skills in a 15-year-old male with Autism...
This case study examines the effective use of Augmentative and Alternative Communication (AAC) tools in enhancing communication skills in a 15-year-old male with Autism Spectrum Disorder (ASD). Initially exhibiting non-verbal tendencies, the subject experienced significant improvements in communication and social interaction following the introduction of a letter board and subsequent transition to an iPad. These AAC tools facilitated a marked development in his ability to articulate thoughts, engage in academic activities, and express complex ideas, particularly in science. The study highlights the role of AAC in expanding the communicative capabilities of individuals with limited or no verbal language, demonstrating notable advancements in both verbal expression and cognitive engagement. The findings underscore the transformative impact of personalized AAC interventions and suggest the potential for broader application in ASD support strategies. This case highlights the need for further research, including randomized controlled trials, to explore the efficacy of AAC tools in diverse ASD contexts.
PubMed: 38835547
DOI: 10.3389/fpsyt.2024.1345447 -
Human Brain Mapping Jun 2024Progressive apraxia of speech (PAOS) is a 4R tauopathy characterized by difficulties with motor speech planning. Neurodegeneration in PAOS targets the premotor cortex,...
Progressive apraxia of speech (PAOS) is a 4R tauopathy characterized by difficulties with motor speech planning. Neurodegeneration in PAOS targets the premotor cortex, particularly the supplementary motor area (SMA), with degeneration of white matter (WM) tracts connecting premotor and motor cortices and Broca's area observed on diffusion tensor imaging (DTI). We aimed to assess flortaucipir uptake across speech-language-related WM tracts identified using DTI tractography in PAOS. Twenty-two patients with PAOS and 26 matched healthy controls were recruited by the Neurodegenerative Research Group (NRG) and underwent MRI and flortaucipir-PET. The patient population included patients with primary progressive apraxia of speech (PPAOS) and non-fluent variant/agrammatic primary progressive aphasia (agPPA). Flortaucipir PET scans and DTI were coregistered using rigid registration with a mutual information cost function in subject space. Alignments between DTI and flortaucipir PET were inspected in all cases. Whole-brain tractography was calculated using deterministic algorithms by a tractography reconstruction tool (DSI-studio) and specific tracts were identified using an automatic fiber tracking atlas-based method. Fractional anisotropy (FA) and flortaucipir standardized uptake value ratios (SUVRs) were averaged across the frontal aslant tract, arcuate fasciculi, inferior frontal-occipital fasciculus, inferior and middle longitudinal fasciculi, as well as the SMA commissural fibers. Reduced FA (p < .0001) and elevated flortaucipir SUVR (p = .0012) were observed in PAOS cases compared to controls across all combined WM tracts. For flortaucipir SUVR, the greatest differentiation of PAOS from controls was achieved with the SMA commissural fibers (area under the receiver operator characteristic curve [AUROC] = 0.83), followed by the left arcuate fasciculus (AUROC = 0.75) and left frontal aslant tract (AUROC = 0.71). Our findings demonstrate that flortaucipir uptake is increased across WM tracts related to speech/language difficulties in PAOS.
Topics: Humans; Diffusion Tensor Imaging; Male; Female; Aged; Positron-Emission Tomography; Middle Aged; Carbolines; Multimodal Imaging; Apraxias; White Matter; tau Proteins; Aphasia, Primary Progressive; Brain
PubMed: 38825988
DOI: 10.1002/hbm.26704 -
Clinical Case Reports Jun 2024We present a case of a single left hemisphere temporal-parietal stroke with subacute global aphasia and severe verbal apraxia and moderate dysphagia. The patient...
We present a case of a single left hemisphere temporal-parietal stroke with subacute global aphasia and severe verbal apraxia and moderate dysphagia. The patient underwent a combined transcranial direct current stimulation (tDCS) over the left dorsolateral prefrontal cortex (DLPFC) and language stimulation with Virtual Reality Rehabilitation System (VRRS). Patient was treated in a 1-h session, for 5 days a week, for 4 consecutive weeks. After treatment, evident improvements in the comprehension of oral and written language, swallowing abilities, and caregiver burden were detected. Power spectrum analysis of EEG data revealed significant enhancements of , , and waves from baseline to follow-up. These preliminary results seem to confirm the reliability of the tDCS translational application in conjunction with computer-based cognitive treatment for language disorders in a patient with stroke-induced aphasia.
PubMed: 38799514
DOI: 10.1002/ccr3.8928 -
Pharmaceuticals (Basel, Switzerland) May 2024Immunotherapy with chimeric antigen receptor T (CAR-T) cell therapies has brought substantial improvement in clinical outcomes in patients with relapsed/refractory B... (Review)
Review
Immunotherapy with chimeric antigen receptor T (CAR-T) cell therapies has brought substantial improvement in clinical outcomes in patients with relapsed/refractory B cell neoplasms. However, complications such as cytokine release syndrome (CRS) and immune effector cell-associated neurotoxicity syndrome (ICANS) limit the therapeutic efficacy of this treatment approach. ICANS can have a broad range of clinical manifestations, while various scoring systems have been developed for its grading. Cognitive decline is prevalent in CAR-T therapy recipients including impaired attention, difficulty in item naming, and writing, agraphia, and executive dysfunction. In this review, we aim to present the diagnostic methods and tests that have been used for the recognition of cognitive impairment in these patients. Moreover, up-to-date data about the duration of cognitive impairment symptoms after the infusion are presented. More research on the risk factors, pathogenesis, preventive measures, and therapy of neurocognitive impairment is crucial for better outcomes for our patients.
PubMed: 38794161
DOI: 10.3390/ph17050591 -
Children (Basel, Switzerland) Apr 2024CACNA1C gene encodes the alpha 1 subunit of the CaV1.2 L-type Ca2+ channel. Pathogenic variants in this gene have been associated with cardiac rhythm disorders such as... (Review)
Review
CACNA1C gene encodes the alpha 1 subunit of the CaV1.2 L-type Ca2+ channel. Pathogenic variants in this gene have been associated with cardiac rhythm disorders such as long QT syndrome, Brugada syndrome and Timothy syndrome. Recent evidence has suggested the possible association between CACNA1C mutations and neurologically-isolated (in absence of cardiac involvement) phenotypes in children, giving birth to a wider spectrum of CACNA1C-related clinical presentations. However, to date, little is known about the variety of both neurological and non-neurological signs/symptoms in the neurologically-predominant phenotypes. We conducted a systematic review of neurologically-predominant presentations without cardiac conduction defects, associated with CACNA1C mutations. We also reported a novel de novo missense pathogenic variant in the CACNA1C gene of a children patient presenting with constructional, dressing and oro-buccal apraxia associated with behavioral abnormalities, mild intellectual disability, dental anomalies, gingival hyperplasia and mild musculoskeletal defects, without cardiac conduction defects. The present study highlights the importance of considering the investigation of the CACNA1C gene in children's neurological isolated syndromes, and expands the phenotype of the CACNA1C related conditions. In addition, the present study highlights that, even in absence of cardiac conduction defects, nuanced clinical manifestations of the Timothy syndrome (e.g., dental and gingival defects) could be found. These findings suggest the high variable expressivity of the CACNA1C gene and remark that the absence of cardiac involvement should not mislead the diagnosis of a CACNA1C related disorder.
PubMed: 38790536
DOI: 10.3390/children11050541 -
Brain Sciences Apr 2024Primary progressive apraxia of speech (PPAOS) is a neurodegenerative syndrome characterized by the progressive and initially isolated or predominant onset of...
Primary progressive apraxia of speech (PPAOS) is a neurodegenerative syndrome characterized by the progressive and initially isolated or predominant onset of difficulties in the planning/programming of movements necessary for speech production and can be accompanied by dysarthria. To date, no study has used an evidence-based treatment to address phonation control in patients with PPAOS. The aim of this study was to evaluate the feasibility and efficacy of LSVT LOUD as a treatment for phonatory control in speakers with PPAOS. Three speakers with PPAOS received LSVT LOUD therapy, and changes in phonatory control, voice quality and prosody were measured immediately, and one, four and eight weeks after the end of the treatment. Overall, the results suggest that the treatment is feasible and could improve voice quality, intensity, and control in some patients with PPAOS. The generalization of the results is also discussed.
PubMed: 38790396
DOI: 10.3390/brainsci14050417 -
Trials May 2024Acquired brain injury (ABI) often leads to persisting somatic, cognitive, and social impairments. Cognitive impairments of processing speed, sustained attention, and...
Virtual reality as a method of cognitive training of processing speed, working memory, and sustained attention in persons with acquired brain injury: a protocol for a randomized controlled trial.
BACKGROUND
Acquired brain injury (ABI) often leads to persisting somatic, cognitive, and social impairments. Cognitive impairments of processing speed, sustained attention, and working memory are frequently reported and may negatively affect activities of daily living and quality of life. Rehabilitation efforts aiming to retrain these cognitive functions have often consisted of computerized training programs. However, few studies have demonstrated effects that transfer beyond the trained tasks. There is a growing optimism regarding the potential usefulness of virtual reality (VR) in cognitive rehabilitation. The research literature is sparse, and existing studies are characterized by considerable methodological weaknesses. There is also a lack of knowledge about the acceptance and tolerability of VR as an intervention method for people with ABI. The present study aims to investigate whether playing a commercially available VR game is effective in training cognitive functions after ABI and to explore if the possible effects transfer into everyday functioning.
METHODS
One hundred participants (18-65 years), with a verified ABI, impairments of processing speed/attention, and/or working memory, and a minimum of 12 months post injury will be recruited. Participants with severe aphasia, apraxia, visual neglect, epilepsy, and severe mental illness will be excluded. Participants will be randomized into two parallel groups: (1) an intervention group playing a commercial VR game taxing processing speed, working memory, and sustained attention; (2) an active control group receiving psychoeducation regarding compensatory strategies, and general cognitive training tasks such as crossword puzzles or sudoku. The intervention period is 5 weeks. The VR group will be asked to train at home for 30 min 5 days per week. Each participant will be assessed at baseline with neuropsychological tests and questionnaires, after the end of the intervention (5 weeks), and 16 weeks after baseline. After the end of the intervention period, focus group interviews will be conducted with 10 of the participants in the intervention group, in order to investigate acceptance and tolerability of VR as a training method.
DISCUSSION
This study will contribute to improve understanding of how VR is tolerated and experienced by the ABI population. If proven effective, the study can contribute to new rehabilitation methods that persons with ABI can utilize in a home setting, after the post-acute rehabilitation has ended.
Topics: Humans; Attention; Memory, Short-Term; Brain Injuries; Cognition; Middle Aged; Adult; Adolescent; Young Adult; Time Factors; Male; Aged; Female; Treatment Outcome; Video Games; Randomized Controlled Trials as Topic; Activities of Daily Living; Virtual Reality; Neuropsychological Tests; Cognitive Remediation; Virtual Reality Exposure Therapy; Recovery of Function; Transfer, Psychology; Cognitive Training; Processing Speed
PubMed: 38778411
DOI: 10.1186/s13063-024-08178-7 -
Neuroscience and Biobehavioral Reviews Jul 2024Limb apraxia is a motor disorder frequently observed following a stroke. Apraxic deficits are classically assessed with four tasks: tool use, pantomime of tool use,... (Meta-Analysis)
Meta-Analysis Review
Limb apraxia is a motor disorder frequently observed following a stroke. Apraxic deficits are classically assessed with four tasks: tool use, pantomime of tool use, imitation, and gesture understanding. These tasks are supported by several cognitive processes represented in a left-lateralized brain network including inferior frontal gyrus, inferior parietal lobe (IPL), and lateral occipito-temporal cortex (LOTC). For the past twenty years, voxel-wise lesion symptom mapping (VLSM) studies have been used to unravel the neural correlates associated with apraxia, but none of them has proposed a comprehensive view of the topic. In the present work, we proposed to fill this gap by performing a systematic Anatomic Likelihood Estimation meta-analysis of VLSM studies which included tasks traditionally used to assess apraxia. We found that the IPL was crucial for all the tasks. Moreover, lesions within the LOTC were more associated with imitation deficits than tool use or pantomime, confirming its important role in higher visual processing. Our results questioned traditional neurocognitive models on apraxia and may have important clinical implications.
Topics: Humans; Apraxias; Brain Mapping; Brain; Likelihood Functions; Brain Injuries; Stroke
PubMed: 38754714
DOI: 10.1016/j.neubiorev.2024.105720 -
Annals of Indian Academy of Neurology 2024
PubMed: 38751922
DOI: 10.4103/aian.aian_1069_23