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Journal of the History of the... 2022Of all the nineteenth-century physicians whose names still resonate today, Armand Trousseau is perhaps the one most familiar, for his description of carpal spasm as a...
Of all the nineteenth-century physicians whose names still resonate today, Armand Trousseau is perhaps the one most familiar, for his description of carpal spasm as a sign of hypocalcemia (Trousseau's sign) and his description of the hypercoagulable state associated with cancer (Trousseau's syndrome). In the last three years of his life, Trousseau turned his attention to aphasia, which he included in his 1864 and 1865 lectures given at Hôtel-Dieu Hospital in Paris and which he discussed in an address to the Imperial Academy of Medicine in 1865. Trousseau preceded Wernicke in describing aphasia as a symptom complex, in which he included Broca's aphemia, receptive aphasia, the inability to read with and without the inability to write (alexia with and without agraphia), the inability to name common objects (amnesic aphasia or anomia) and to recognize numbers (acalculia), and the inability to draw. Trousseau concluded that such a varied symptomatology could not arise from a single area, and he proposed that lesions of the posterior inferior frontal convolution identified by Broca, of the insula and corpus striatum and of the temporal and parietal lobes, could give rise to aphasia. The role of the posterior temporal lobe in receptive aphasia was confirmed by Wernicke in 1874, and the role of the inferior parietal lobule in agraphia and alexia was confirmed by Dejerine in 1891. Trousseau thought that aphasia resulted from the loss of the memory for words and for the synergistic actions of the movements of articulations learned in early childhood. Trousseau added inattention, lack of comprehension, and cognitive decline to amnesia as contributing factors to the verbal and nonverbal expression of thought. Trousseau constructed a comprehensive theory of aphasia that unified its semiology, localization, and pathophysiology. This construct had the virtue of being predictive and falsifiable by the clinico-pathological method. Through insight born of observation, Trousseau identified the issues that dominated aphasiology into the twenty-first century.
Topics: Agraphia; Aphasia; Aphasia, Broca; Aphasia, Wernicke; Child, Preschool; Dyslexia; Humans; Male; Physicians
PubMed: 34115961
DOI: 10.1080/0964704X.2021.1898909 -
Psychiatria Danubina Dec 2023Cerebral maturation is characterized by different age-dependent molecular and cellular processes and follows a different course for grey matter (GM) and white matter...
Cerebral maturation is characterized by different age-dependent molecular and cellular processes and follows a different course for grey matter (GM) and white matter (WM). During brain development, a crucial point seems to be represented by the establishment of a hemispheric specialization with the left hemisphere dominant for language and motor control and the right hemisphere dominant for visuospatial processing and attention. Therefore, motor and cognitive development are strongly connected. Atypical motor development and lateralization can be associated with neurodevelopmental disorders, such as Language Disorder, Learning Disorders (Dysgraphia and Dyslexia), Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorder. The aim of our research was to investigate the possible effects of intensive motor training on WM plasticity and writing skills in children with Developmental Dysgraphia through a tractography study of the main WM tracts. Considering the effect of training for the Mean Diffusivity (MD) over 18 WM tracts, in 6 collaborating dysgraphic patient MD decrease (-4.3%) and in 3 not. Intensive motor training affects both stimulated and not stimulated WM tracts and showed a double not-specificity: for not stimulated hemilate and for not directly stimulated WM tracts. Intensive motor training improves both some lateralized brain functions and intra- and inter-hemispheric connectivity in our patients with good compliance with motor treatment. Moreover, our findings have shown that WM plasticity improvement concerned cortical areas responsible for both motor and cognitive functions.
Topics: Child; Humans; White Matter; Magnetic Resonance Imaging; Diffusion Tensor Imaging; Autism Spectrum Disorder; Gray Matter; Brain
PubMed: 37994059
DOI: No ID Found -
Journal of Learning Disabilities 2022This article presents the application of the interactive dynamic literacy (IDL) model (Kim, 2020b) toward understanding difficulties in learning to read and write....
This article presents the application of the interactive dynamic literacy (IDL) model (Kim, 2020b) toward understanding difficulties in learning to read and write. According to the IDL model, reading and writing are part of communicative acts that draw on largely shared processes and skills as well as unique processes and skills. As such, reading and writing are dissociable but interdependent systems that have hierarchical, interactive, and dynamic relations. These key tenets of the IDL model are applied to the disruption of reading and writing development to explain co-occurrence of reading-writing difficulties using a single framework. The following hypotheses are presented: (a) co-occurrence between word reading and spelling and handwriting difficulties; (b) co-occurrence of dyslexia with written composition difficulties; (c) co-occurrence between reading comprehension and written composition difficulties; (d) co-occurrence of language difficulties with reading difficulties and writing difficulties; (e) co-occurrence of reading, writing, and language difficulties with weak domain-general skills or executive functions such as working memory and attentional control (including attention-deficit/ hyperactivity disorder [ADHD]); and (f) multiple pathways for reading and writing difficulties. Implications are discussed.
Topics: Agraphia; Dyslexia; Humans; Literacy; Reading; Writing
PubMed: 35001719
DOI: 10.1177/00222194211060868 -
Clinical Child Psychology and Psychiatry Apr 2023Research on the relationship between sluggish cognitive tempo (SCT) and scores on neuropsychological tests (such as those measuring processing speed and reaction time)...
Research on the relationship between sluggish cognitive tempo (SCT) and scores on neuropsychological tests (such as those measuring processing speed and reaction time) is inconclusive, and the association between SCT and motor incoordination and dysgraphia has not been objectively investigated. Mothers of 413 elementary school children (6-12 years of age) rated their children on the Pediatric Behavior Scale (PBS), which yields psychological problem scores, including SCT. Children were administered an extensive battery of neuropsychological tests assessing processing and performance speed, working memory, immediate and delayed recall, sustained attention, response inhibition, cognitive flexibility, fine motor manipulative skill, verbal fluency and retrieval, set shifting, and interference control, as well as intelligence and reading and math achievement. Only three of the 19 correlations between SCT and neuropsychological scores were significant, and all involved graphomotor tests (two timed and one untimed). In regression analysis, the strongest independent predictor of SCT was the maternal PBS incoordination factor score, followed by ratings of autism, inattention, and depression. Neuropsychological test scores did not contribute significantly more to predicting SCT. Among the incoordination PBS factor items, clumsy and draws or writes poorly were significant SCT predictors. Our novel and unexpected findings showed that motor incoordination was a stronger correlate of SCT than other variables assessed in our study, including those previously linked with SCT. Future SCT research needs to include measures of incoordination and dysgraphia in order to replicate and expand upon the current findings. Our results suggest that SCT traits are not reliably measured by currently available neuropsychological tests.
Topics: Female; Humans; Child; Agraphia; Sluggish Cognitive Tempo; Attention Deficit Disorder with Hyperactivity; Cognition; Neuropsychological Tests
PubMed: 35751158
DOI: 10.1177/13591045221110730 -
Frontiers in Human Neuroscience 2022Language performance requires support from central cognitive/linguistic abilities as well as the more peripheral sensorimotor skills to plan and implement spoken and...
Language performance requires support from central cognitive/linguistic abilities as well as the more peripheral sensorimotor skills to plan and implement spoken and written communication. Both output modalities are vulnerable to impairment following damage to the language-dominant hemisphere, but much of the research to date has focused exclusively on spoken language. In this study we aimed to examine an integrated model of language processing that includes the common cognitive processes that support spoken and written language, as well as modality-specific skills. To do so, we evaluated spoken and written language performance from 87 individuals with acquired language impairment resulting from damage to left perisylvian cortical regions that collectively constitute the dorsal language pathway. Comprehensive behavioral assessment served to characterize the status of central and peripheral components of language processing in relation to neurotypical controls ( = 38). Performance data entered into principal components analyses (with or without control scores) consistently yielded a strong five-factor solution. In line with a primary systems framework, three central cognitive factors emerged: semantics, phonology, and orthography that were distinguished from peripheral processes supporting speech production and allographic skill for handwriting. The central phonology construct reflected performance on phonological awareness and manipulation tasks and showed the greatest deficit of all the derived factors. Importantly, this phonological construct was orthogonal to the speech production factor that reflected repetition of words/non-words. When entered into regression analyses, semantics and phonological skill were common predictors of language performance across spoken and written modalities. The speech production factor was also a strong, distinct predictor of spoken naming and oral reading, in contrast to allographic skills which only predicted written output. As expected, visual orthographic processing contributed more to written than spoken language tasks and reading/spelling performance was strongly reliant on phonological and semantic abilities. Despite the heterogeneity of this cohort regarding aphasia type and severity, the marked impairment of phonological skill was a unifying feature. These findings prompt greater attention to clinical assessment and potential treatment of underlying phonological skill in individuals with left perisylvian damage.
PubMed: 36419644
DOI: 10.3389/fnhum.2022.1025468 -
Zhurnal Nevrologii I Psikhiatrii Imeni... 2021Neurodevelopmental disorders (NDD) are characterized by disturbances of the formation of cognitive functions, communication skills, behavior characteristics and/or motor...
Neurodevelopmental disorders (NDD) are characterized by disturbances of the formation of cognitive functions, communication skills, behavior characteristics and/or motor skills, which are caused by abnormalities in the course of the processes of neuroontogenesis. In the clinical practice of a pediatric neurologist and pediatrician, a significant part consists of patients with NDD without a general decrease in intelligence, primarily with speech development disorders, attention deficit hyperactivity disorder (ADHD), specific learning disorders (dyslexia, dysgraphia, dyscalculia). NDD represent a heterogeneous group of diseases, having multifactorial origin and a neurobiological nature, which are caused by genetic mechanisms and early (perinatal) brain damage. Among children with NDD, there is a higher occurrence of anxiety disorders compared to their peers. With NDD, early intervention is indicated, and its positive effect is possible during the period when the brain is most plastic and capable of changes. The published results of multicenter, double-blind, placebo-controlled, randomized clinical trials of pharmacotherapy with the medication "Tenoten for children" for ADHD, specific learning disorders, anxiety disorders and the consequences of perinatal damage to the central nervous system are reviewed.
Topics: Anxiety Disorders; Attention Deficit Disorder with Hyperactivity; Child; Developmental Disabilities; Humans; Motor Skills; Multicenter Studies as Topic; Neurodevelopmental Disorders; Randomized Controlled Trials as Topic
PubMed: 35038845
DOI: 10.17116/jnevro202112111238 -
Neuropathology : Official Journal of... Feb 2023Here, we describe two patients who presented with focal cortical signs and underwent neuropathological examination. Case 1 was a 73-year-old woman with progressive... (Review)
Review
Here, we describe two patients who presented with focal cortical signs and underwent neuropathological examination. Case 1 was a 73-year-old woman with progressive speech disorder and abnormal behavior. She showed agraphia of the frontal lobe type, featured by the omission of kana letters when writing, other than pyramidal tract signs, pseudobulbar palsy, and frontal lobe dementia. Neuropathological examination, including TAR DNA-binding protein 43 (TDP-43) immunohistochemistry, revealed bilateral frontal and anterior temporal lobe lesions accentuated in the precentral gyrus and posterior part of the middle frontal gyrus. Both upper and lower motor neurons showed pathological changes compatible with amyotrophic lateral sclerosis. Case 2 was a 62-year-old man with progressive speech disorder and hand clumsiness. He had a motor speech disorder, compatible with apraxia of speech, and limb apraxia of the limb-kinetic and ideomotor type. Neuropathological examination revealed degeneration in the left frontal lobe, including the precentral gyrus, anterior temporal, and parietal lobe cortices. Moreover, numerous argyrophilic neuronal intracytoplasmic inclusions (Pick body) and ballooned neurons were observed in these lesions and the limbic system. The pathological diagnosis was Pick disease involving the peri-Rolandic area and parietal lobe. In these two cases, the distribution of neuropathological changes in the cerebral cortices correlated with the clinical symptoms observed.
Topics: Male; Female; Humans; Aged; Middle Aged; Amyotrophic Lateral Sclerosis; Motor Neurons; Dementia; Temporal Lobe; Apraxias
PubMed: 36328774
DOI: 10.1111/neup.12854 -
Clinical Genetics Mar 2024Calmodulin-binding transcriptional activator 1 (CAMTA1) is highly expressed in the brain and plays a role in cell cycle regulation, cell differentiation, regulation of...
Calmodulin-binding transcriptional activator 1 (CAMTA1) is highly expressed in the brain and plays a role in cell cycle regulation, cell differentiation, regulation of long-term memory, and initial development, maturation, and survival of cerebellar neurons. The existence of human neurological phenotypes, including cerebellar dysfunction with variable cognitive and behavioral abnormalities (CECBA), associated with CAMTA1 variants, has further supported its role in brain functions. In this study, we phenotypically and molecularly characterize the largest cohort of individuals (n = 26) with 23 novel CAMTA1 variants (frameshift-7, nonsense-6, splicing-1, initiation codon-1, missense-5, and intragenic deletions-3) and compare the findings with all previously reported cases (total = 53). We show that the most notable phenotypic findings are developmental delay/intellectual disability, unsteady or uncoordinated gait, hypotonia, behavioral problems, and eye abnormalities. In addition, there is a high incidence of dysarthria, dysgraphia, microcephaly, gastrointestinal abnormalities, sleep difficulties, and nonspecific brain MRI findings; a few of which have been under-reported. More than one third of the variants in this cohort were inherited from an asymptomatic or mildly affected parent suggesting reduced penetrance and variable expressivity. Our cohort provides a comprehensive characterization of the spectrum of phenotypes and genotypes among individuals with CECBA and the large data will facilitate counseling and formulating management plans and surveillance recommendations for these individuals.
Topics: Humans; Brain; Calcium-Binding Proteins; Genotype; Intellectual Disability; Phenotype; Trans-Activators; Transcription Factors
PubMed: 38044714
DOI: 10.1111/cge.14464 -
International Journal of Language &... Nov 2022Written communication has become an increasingly important part of everyday life in social, educational and professional spheres. The substantial increase in writing via...
BACKGROUND
Written communication has become an increasingly important part of everyday life in social, educational and professional spheres. The substantial increase in writing via the internet and mobile technologies provides both an opportunity for social engagement and distinct challenges for people with aphasia. Within the current literature there has been limited research into the lived experiences of people with aphasia of their writing difficulties and how these affect their ability to communicate.
AIMS
This qualitative study aimed to explore the experiences of people with aphasia of living with language-related writing difficulties and the impact of these on their lives.
METHODS & PROCEDURES
Eight people with post-stroke aphasia and writing difficulties took part in semi-structured interviews. The interviews were analysed using inductive reflexive thematic analysis.
OUTCOMES & RESULTS
Two themes were found in the data. The first theme was a gradual and effortful improvement to writing: Participants described how writing had improved since their stroke due to strategies and support, but they still found writing to be difficult and frustrating and described many barriers to writing. The second theme was the importance of writing for fulfilling adult social roles: Participants found writing to be important for communicating with family, friends and organizations, but their participation in society and self-esteem and confidence were impacted by writing difficulties; reduced social roles meant reduced need for writing, but participants were still motivated to work towards writing goals.
CONCLUSIONS & IMPLICATIONS
The findings demonstrate the emerging importance of writing skills for people with aphasia with respect to communication, well-being, participation and inclusion in society, and carrying out social roles. They provide an insight into the process of improvement, including the difficulties, facilitators and barriers. Implications for speech and language therapy assessment and management are discussed.
WHAT THIS PAPER ADDS
What is already known on the subject People with aphasia have difficulties with writing that can affect their ability to communicate. A small body of qualitative research has provided insights into individuals' experiences of literacy difficulties. More research is needed to understand the writing experiences of people with aphasia to help design appropriate assessments and interventions. What this paper adds to existing knowledge Participants experienced gradual and effortful improvement since their stroke. They felt negative about aspects of their writing, including speed, accuracy and range of vocabulary. Writing was facilitated through assistive technologies, spelling practice and support from others; barriers included technology, lack of time, stroke-related symptoms and others' lack of awareness about aphasia. Participants considered writing skills to be important, particularly for communication, carrying out adult social roles and participating in society, and were therefore still working towards goals related to everyday writing activities. What are the potential or actual clinical implications of this work? This study suggests that speech and language therapy assessment should include interviewing participants about their activities, strengths, difficulties, facilitators and barriers in writing, and informal assessment of a range of functional writing tasks. Intervention should be tailored to the individual's needs. This should include meaningful activities that relate to functional everyday writing and, where appropriate, self-management, compensatory technologies and group approaches, while making use of existing strategies identified by the individual.
Topics: Adult; Humans; Aphasia; Speech Therapy; Agraphia; Stroke Rehabilitation; Stroke; Writing
PubMed: 35929726
DOI: 10.1111/1460-6984.12762 -
Cold Spring Harbor Molecular Case... Dec 2023Rare genetic conditions are challenging for the primary care provider to manage without proper guidelines. This clinical review is designed to assist the pediatrician,...
Rare genetic conditions are challenging for the primary care provider to manage without proper guidelines. This clinical review is designed to assist the pediatrician, family physician, or internist in the primary care setting to manage the complexities of 16p11.2 deletion syndrome. A multidisciplinary medical home with the primary care provider leading the care and armed with up-to-date guidelines will prove most helpful to the rare genetic patient population. A special focus on technology to fill gaps in deficits, review of case studies on novel medical treatments, and involvement with the educational system for advocacy with an emphasis on celebrating diversity will serve the rare genetic syndrome population well.
Topics: Child; Humans; Adolescent; Chromosome Deletion; Chromosome Disorders; Autistic Disorder; Intellectual Disability; Chromosomes, Human, Pair 16
PubMed: 38050025
DOI: 10.1101/mcs.a006316