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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 -
Journal of Speech, Language, and... May 2024The purposes of this review article were to provide an introduction to and "bird's-eye" overview of the current evidence base for treatment of childhood apraxia of...
PURPOSE
The purposes of this review article were to provide an introduction to and "bird's-eye" overview of the current evidence base for treatment of childhood apraxia of speech (CAS), identify some gaps and trends in this rapidly growing literature, and formulate some future research directions, in order to advance the evidence base and clinical practice for children with CAS.
METHOD
Following a brief introduction outlining important concepts, a narrative review of the CAS treatment literature is provided, and trends and future directions are identified based on this review. The review is organized around four fundamental treatment research questions: (a) "Does Treatment X work?", (b) "Does Treatment X work better than Treatment Y?", (c) "For whom does Treatment X work?", and (d) "What does 'work' mean, anyway?"
RESULTS
A wide range of CAS treatments with varying degrees of evidence for efficacy exists. Research is beginning to emerge that compares different treatments and seeks to determine optimal treatment parameters. Few studies to date have explored child-level predictors of treatment response, and the evidence base currently is limited in scope with respect to populations and outcomes studied.
CONCLUSIONS
A growing evidence base supports the efficacy of a number of treatments for CAS. However, many important gaps in the literature were identified that warrant redoubled and sustained research attention. Research is beginning to emerge that addresses treatment optimization, comparison, candidacy, and outcomes. Suggestions for future research are offered, and the concept of a hypothesized pathway was applied to CAS to illustrate how components of an intervention can effect change in a clinical goal and can help guide development and refinement of treatments for children with CAS.
PubMed: 38768073
DOI: 10.1044/2024_JSLHR-23-00233 -
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 -
American Journal of Speech-language... May 2024There are multiple frameworks for goal writing that are applicable to the practice of speech-language pathology. Motor-based speech disorders are a subset of speech...
PURPOSE
There are multiple frameworks for goal writing that are applicable to the practice of speech-language pathology. Motor-based speech disorders are a subset of speech sound disorders that are thought to require specific elements of intervention that are typically not addressed in the traditional frameworks used in the clinical setting. The purpose of this tutorial is to review general approaches of goal writing and suggest additional elements that may be used to improve the efficiency and effectiveness of treatment for childhood motor speech disorders, specifically childhood apraxia of speech (CAS).
METHOD
Existing models of goal writing were reviewed to ascertain elements common to most of these models. A basic framework was chosen and modified to include behaviors, conditions, and approaches to goal measurement tailored to the clinical needs of children with CAS. A resource for clinical decision making for children with CAS was developed to inform goal writing at the onset of treatment and adaptations that occur over the course of treatment. Case studies are presented to demonstrate how the presented framework can be applied to writing goals for motor-based treatment for two different children with CAS.
DISCUSSION
Children with CAS require a specialized approach to intervention, which requires goals to reflect the unique clinical needs of this population. This tutorial offers resources that use the best available research evidence and current understanding of effective treatment practices for CAS to guide clinical decision making for motor-based intervention and goal writing. This tutorial is intended to guide treatment planning across varied settings to facilitate progress and optimize treatment outcomes for children with CAS.
PubMed: 38754036
DOI: 10.1044/2024_AJSLP-24-00014 -
Annals of Indian Academy of Neurology 2024
PubMed: 38751922
DOI: 10.4103/aian.aian_1069_23 -
Journal of Communication Disorders 2024This study examines whether there are differences in the speech of speakers with dysarthria, speakers with apraxia and healthy speakers in spectral acoustic measures...
PURPOSE
This study examines whether there are differences in the speech of speakers with dysarthria, speakers with apraxia and healthy speakers in spectral acoustic measures during production of the central-peninsular Spanish alveolar sibilant fricative /s/.
METHOD
To this end, production of the sibilant was analyzed in 20 subjects with dysarthria, 8 with apraxia of speech and 28 healthy speakers. Participants produced 12 sV(C) words. The variables compared across groups were the fricative's spectral amplitude difference (AmpD) and spectral moments in the temporal midpoint of fricative execution.
RESULTS
The results indicate that individuals with dysarthria can be distinguished from healthy speakers in terms of the spectral characteristics AmpD, standard deviation (SD), center of gravity (CoG) and skewness, the last two in context with unrounded vowel, while no differences in kurtosis were detected. Participants with AoS group differ significantly from healthy speaker group in AmpD, SD and CoG and Kurtosis, the first one followed unrounded vowel and the latter two followed by rounded vowels. In addition, speakers with apraxia of speech group returned significant differences with respect to speakers with dysarthria group in AmpD, CoG and skewness.
CONCLUSIONS
The differences found between the groups in the measures studied as a function of the type of vowel context could provide insights into the distinctive manifestations of motor speech disorders, contributing to the differential diagnosis between apraxia and dysarthria in motor control processes.
Topics: Humans; Dysarthria; Apraxias; Male; Female; Middle Aged; Speech Acoustics; Adult; Aged; Phonetics; Speech Production Measurement
PubMed: 38744198
DOI: 10.1016/j.jcomdis.2024.106428