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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 -
Learning Disabilities (Weston, Mass.) 2018Participants in this study completed an on-line experiment in which they wrote essays by stylus or keyboard. Three translation measures (length of language burst, length...
Online Writing Processes in Translating Cognition into Language and Transcribing Written Language by Stylus and Keyboard in Upper Elementary and Middle School Students With Persisting Dysgraphia or Dyslexia.
Participants in this study completed an on-line experiment in which they wrote essays by stylus or keyboard. Three translation measures (length of language burst, length of pauses, and rate of pausing) and four transcription measures (total words, total time, words/minute, and percent spelling errors) for composition were analyzed for two research aims. Research Aim 1 addressed whether upper elementary and middle school students with carefully diagnosed transcription disabilities (dysgraphia with impaired handwriting, =18, or dyslexia with impaired spelling, =20) showed significant differences from pretest to posttest, across modes of transcription (stylus or keyboard), and between diagnostic groups. Results showed significant (a) change after intervention (18 computerized lessons with learning activities in letter formation/selection, spelling, and composing) in length of pauses, total time, and words per minute; (b) mode effects (fewer words and less time by stylus; fewer pauses per minute by keyboard); and (c) interactions with diagnostic group in response to intervention on some measures. Research Aim 2 addressed whether following intervention each of the diagnostic groups performed comparably to a typical control group (=15) in the same on-line experiment. Results showed (a) comparable performance of the dysgraphia and control groups on all keyboarding tasks but differences on two stylus measures; and (b) lack of comparable performance of the dyslexia and control groups on two stylus measures (total words and percent spelling errors) and the four keyboarding tasks related to transcription. Implications for assistive technology and writing instruction for dysgraphia and dyslexia are discussed.
PubMed: 30792829
DOI: 10.18666/LDMJ-2018-V23-I2-9008 -
Frontiers in Psychology 2019Dysgraphia (D) is a complex specific learning disorder with a prevalence of up to 30%, which is linked with handwriting issues. The factors recognized for assessing...
Dysgraphia (D) is a complex specific learning disorder with a prevalence of up to 30%, which is linked with handwriting issues. The factors recognized for assessing these issues are legibility and performance time. Two questionnaires, the Handwriting Proficiency Screening Questionnaire (HPSQ) for teachers and its modification for children (HPSQ-C), were established as quick and valid screening tools along with a third factor - emotional and physical well-being. Until now, in the Czechia, there has been no validated screening tool for D diagnosis. A study was conducted on a set of 294 children from 3rd and 4th year of primary school (132 girls/162 boys; 8.96 ± 0.73) and 21 teachers who spent most of their time with them. Confirmatory factor analysis based on the theoretical background showed poor fit for HPSQ [χ(32) = 115.07, < 0.001; comparative fit index (CFI) = 0.95; Tucker-Lewis index (TLI) = 0.93; root mean square error of approximation (RMSEA) = 0.09; standard root mean square residual (SRMR) = 0.05] and excellent fit for HPSQ-C [χ(32) = 31.12, = 0.51; CFI = 1.0; TLI = 1.0; RMSEA = 0.0; SRMR = 0.04]. For the HPSQ-C models, there were no differences between boys and girls [Δχ(7) = 12.55, = 0.08]. Values of McDonalds's ω indicate excellent (HPSQ, ω = 0.9) and acceptable (HPSQ-C, ω = 0.7) reliability. Boys were assessed as worse writers than girls based on the results of both questionnaires. The grades positively correlate with the total scores of both HPSQ ( = 0.54, < 0.01) and HPSQ-C ( = 0.28, < 0.01). Based on the results, for the assessment of handwriting difficulties experienced by Czech children, we recommend using the HPSQ-C questionnaire for research purposes.
PubMed: 32038361
DOI: 10.3389/fpsyg.2019.02937 -
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 -
Parkinsonism & Related Disorders Jun 2019Sensory trick is a specific maneuver that temporarily improves dystonia that is usually observed in 44%-89% of patients with cranial-cervical dystonia and in 20% of... (Comparative Study)
Comparative Study
INTRODUCTION
Sensory trick is a specific maneuver that temporarily improves dystonia that is usually observed in 44%-89% of patients with cranial-cervical dystonia and in 20% of patients with upper limb dystonia. This study aimed to assess the prevalence of sensory trick in a cohort of 37 patients with idiopathic adult-onset upper limb dystonia and to determine whether sensory trick can be a useful tool to distinguish dystonic and non-dystonic tremor.
METHODS
Thirty-seven right-handed patients with idiopathic upper limb dystonia and disturbed handwriting and 19 patients with non-dystonic action tremor in the upper limb causing writing disturbances participated into the study. Patients were asked to write a standard sentence twice, before and after applying a standardized sensory trick (gently grabbing right wrist with his left hand). Readability of the two sentences was assessed by three observers blinded to diagnosis.
RESULTS
Five/37 patients (13%) self-discovered ST over disease history, while performing the standardized trick maneuver improved handwriting in 14/37 patients (38%). Interobserver agreement on the effectiveness of sensory trick among the three observers yielded a kappa value of 0.86 (p < 0.0001). The standardized trick was effective in 8/19 patients with dystonic tremor (42%) and in 0/19 patients with non-dystonic tremor (p = 0.003).
CONCLUSION
The results of applying a standardized non-spontaneous trick demonstrated that, in upper limb dystonia, ST may be more frequent than usually observed. Effective sensory trick, when present, may be a hallmark of idiopathic dystonia. The lack of effective sensory trick may help to identify non dystonic upper limb tremor.
Topics: Aged; Agraphia; Cohort Studies; Dystonic Disorders; Essential Tremor; Female; Handwriting; Humans; Male; Middle Aged; Psychomotor Performance; Torticollis; Tremor; Upper Extremity
PubMed: 30655163
DOI: 10.1016/j.parkreldis.2019.01.006 -
The American Journal of Occupational... 2018This study investigated the psychometric properties of the Here's How I Write-Hebrew (HHIW-HE) and compared handwriting self-awareness between children with and without...
OBJECTIVE
This study investigated the psychometric properties of the Here's How I Write-Hebrew (HHIW-HE) and compared handwriting self-awareness between children with and without dysgraphia.
METHOD
Fifty-eight children (29 with and 29 without dysgraphia) completed the HHIW-HE. Occupational therapists provided corresponding ratings that were based on objective handwriting assessments. Self-awareness was measured through child-therapist consensus.
RESULTS
The HHIW-HE has an internal consistency of α = .884. Children with dysgraphia rated themselves as significantly more impaired than controls on 6 of 24 HHIW-HE items and on the total score, with medium to large effect sizes (0.37-0.61). Mean child-therapist agreement was significantly higher for the controls than for the research group, t(56) = 4.268, p = .000.
CONCLUSION
Results support the HHIW-HE's validity. Children with dysgraphia reported more handwriting difficulties than did controls; however, they tended to overestimate their handwriting abilities.
PubMed: 30157018
DOI: 10.5014/ajot.2018.024869 -
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 -
Neurodegenerative Disease Management Oct 2015
Review
Topics: Agraphia; Biomarkers; Disease Progression; Handwriting; Humans; Parkinson Disease
PubMed: 26517047
DOI: 10.2217/nmt.15.29