-
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 -
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 -
Computational Intelligence and... 2022The application of artificial intelligence (AI) technology in the field of dyslexia is becoming increasingly abundant. However, the content of related literature shows...
The application of artificial intelligence (AI) technology in the field of dyslexia is becoming increasingly abundant. However, the content of related literature shows that there is still a lack of systematic and comprehensive research in this field at home and abroad. By outlining the development of AI technology, the meaning, causes, and classification of learning disabilities, the most representative studies on the application of AI technology in dyslexia education, including four aspects of diagnosis, intervention, assessment, and services are analyzed. The study finds that AI technology can improve the conditions suffering from dyslexia and dysgraphia, and can serve the education of dyslexic children as a technical tool to overcome dyslexia. By summarizing the effect of story structure teaching based on visual analysis on reading comprehension intervention for students with dyslexia, it can provide useful references and references for related research.
Topics: Artificial Intelligence; Child; Comprehension; Dyslexia; Humans; Reading; Students
PubMed: 36072715
DOI: 10.1155/2022/9479709 -
Journal of Physical Therapy Science Feb 2023[Purpose] To assess the clinical applicability of a novel automated tractography tool named XTRACT during acute stroke rehabilitation. [Participants and Methods] Three...
[Purpose] To assess the clinical applicability of a novel automated tractography tool named XTRACT during acute stroke rehabilitation. [Participants and Methods] Three patients with left hemisphere stroke were sampled. Diffusion tensor images were acquired on the second week, and automated tractography was then applied. Tractography images and fractional anisotropy (FA) values in the corticospinal tract (CST) and arcuate fasciculus (AF) were assessed in relation to hemiparesis and aphasia. [Results] Patient 1 was nearly asymptomatic; FA in the left CST was 0.610 and that in the AF was 0.509. Patient 2 had severe hemiparesis and mild motor aphasia. Tractography images of the CST and AF were blurred; FA in the left CST was 0.295 and that in the AF was 0.304. Patient 3 showed no hemiparesis or aphasia at initial assessment. Tractography image of the CST was intact but that of the AF was less clear; FA in the left CST was 0.586 and that in the AF was 0.338. Considering the less clear images of the AF and lower FA value in Patients 2 and 3, further examinations for aphasia were performed, which revealed agraphia. [Conclusion] Visualization and quantification of neural fibers using automated tractography promoted planning acute care rehabilitative treatment in patients with stroke.
PubMed: 36744203
DOI: 10.1589/jpts.35.156 -
Children (Basel, Switzerland) Dec 2023Handwriting abnormalities in children with attention deficit hyperactivity disorder (ADHD) have sometimes been reported both (i) at the product level (i.e.,... (Review)
Review
Is There a Deficit in Product and Process of Handwriting in Children with Attention Deficit Hyperactivity Disorder? A Systematic Review and Recommendations for Future Research.
Handwriting abnormalities in children with attention deficit hyperactivity disorder (ADHD) have sometimes been reported both (i) at the product level (i.e., quality/legibility of the written trace and speed of writing) and (ii) at the process level (i.e., dynamic and kinematic features, such as on-paper and in-air durations, pen pressure and velocity peaks, etc.). Conversely, other works have failed to reveal any differences between ADHD and typically developing children. The question of the presence and nature of handwriting deficits in ADHD remains open and merits an in-depth examination. The aim of this systematic review was, therefore, to identify studies that have investigated the product and/or process of handwriting in children with ADHD compared to typically developing individuals. This review was conducted and reported in accordance with the PRISMA statement. A literature search was carried out using three electronic databases. The methodological quality of the studies was systematically assessed using the Critical Appraisal Skills Program (CASP) criteria. Twenty-one articles were identified. Of these, 17 described handwriting quality/legibility, 12 focused on speed and 14 analyzed the handwriting process. All the studies (100%) with satisfactory methodology procedures reported an impaired product and process in children with ADHD, while 25% evidenced a difference in the speed of production. Most importantly, the studies differed widely in their methodological approaches. Substantial gaps remain, particularly with regard to ascertaining comorbidities, ADHD subtypes and the medical status of the included children. The lack of overall homogeneity in the samples calls for higher quality studies. We conclude with recommendations for further studies.
PubMed: 38255345
DOI: 10.3390/children11010031 -
BMC Psychiatry Feb 2024Children with specific learning disabilities (SLDs) and their parents experience many problems that may influence their interactions. The study aimed to evaluate the...
BACKGROUND
Children with specific learning disabilities (SLDs) and their parents experience many problems that may influence their interactions. The study aimed to evaluate the maternal acceptance/rejection status of children with SLDs and their associations with sociodemographic characteristics, and problem behaviors.
METHODS
The Parental Acceptance-Rejection/Control Questionnaire (PARQ/C) and Strengths and Difficulties Questionnaire (SDQ) were applied to the mothers with children aged 7-17 years with a diagnosis of SLD.
RESULTS
Among 266 children enrolled, the mean age was 10.2 years, and 61.7% were male, the mean score was 30.4 for warmth/affection, 25.8 for hostility/aggression, 22.9 for indifference/neglect, 16.3 for undifferentiated rejection, 95.4 for the total PARQ, and 40.8 for the control scales. Generalized linear models revealed that maternal depression, poor family income, parental smoking, and presence of dysgraphia, and poor total difficulties and prosocial scores of SDQ subscales were associated with the maternal acceptance-rejection. There was an interaction between the maternal control subscale and the school success of the child.
CONCLUSION
Mothers of children with SLDs had high maternal rejection scores which were associated with unfavorable characteristics of child and family. Early detection and giving appropriate support of these cases could improve the mother's relationship with her SLD child.
Topics: Humans; Child; Female; Male; Parents; Mothers; Parent-Child Relations; Surveys and Questionnaires; Learning Disabilities
PubMed: 38350976
DOI: 10.1186/s12888-024-05584-8 -
Scientific Reports Apr 2021Language outcomes after speech and language therapy in post-stroke aphasia are challenging to predict. This study examines behavioral language measures and resting state...
Language outcomes after speech and language therapy in post-stroke aphasia are challenging to predict. This study examines behavioral language measures and resting state fMRI (rsfMRI) as predictors of treatment outcome. Fifty-seven patients with chronic aphasia were recruited and treated for one of three aphasia impairments: anomia, agrammatism, or dysgraphia. Treatment effect was measured by performance on a treatment-specific language measure, assessed before and after three months of language therapy. Each patient also underwent an additional 27 language assessments and a rsfMRI scan at baseline. Patient scans were decomposed into 20 components by group independent component analysis, and the fractional amplitude of low-frequency fluctuations (fALFF) was calculated for each component time series. Post-treatment performance was modelled with elastic net regression, using pre-treatment performance and either behavioral language measures or fALFF imaging predictors. Analysis showed strong performance for behavioral measures in anomia (R = 0.948, n = 28) and for fALFF predictors in agrammatism (R = 0.876, n = 11) and dysgraphia (R = 0.822, n = 18). Models of language outcomes after treatment trained using rsfMRI features may outperform models trained using behavioral language measures in some patient populations. This suggests that rsfMRI may have prognostic value for aphasia therapy outcomes.
Topics: Aged; Aphasia; Brain; Brain Mapping; Female; Humans; Language Therapy; Magnetic Resonance Imaging; Male; Middle Aged; Patient-Specific Modeling; Prognosis; Stroke; Stroke Rehabilitation; Treatment Outcome
PubMed: 33875733
DOI: 10.1038/s41598-021-88022-z -
Children (Basel, Switzerland) Sep 2023Handwriting disorders (HDs) are prevalent in school-aged children, with significant interference with academic performances. The current study offers a transdisciplinary...
Handwriting disorders (HDs) are prevalent in school-aged children, with significant interference with academic performances. The current study offers a transdisciplinary approach with the use of normed and standardized clinical assessments of neuropsychomotor, neuropsychological and oculomotor functions. The aim is to provide objective data for a better understanding of the nature and the etiology of HDs. Data from these clinical assessments were analyzed for 27 school-aged children with HD (first to fifth grade). The results underline a high heterogeneity of the children presenting HDs, with many co-occurrences often unknown. However, it was possible to highlight three levels of HDs based on BHK scores: mild HD not detected by the BHK test (26% of children), moderate HD (33%) and dysgraphia (41% of children). The mild nature of the HDs not detected by the BHK test appears to occur at a relatively low frequency of the associated disorders identified during clinical evaluations. On the contrary, dysgraphia appears to be associated with a high frequency of co-occurring disorders identified in the clinical assessment, with a predominance of oculomotor disorders (55% of children), leading to visual-perceptual difficulties and a high level of handwriting deterioration. Finally, children with moderate HD have fewer co-occurrences than children with dysgraphia, but have more difficulties than children with mild HD. This highlights the importance of differentiating between different degrees of HDs that do not respond to the same semiologies. Our findings support the interest in performing a transdisciplinary and standardized clinical examination with developmental standards (neuropsychomotor, neuropsychological and oculomotor) in children with HD. Indeed, HDs can therefore be associated with a multitude of disorders of different natures ranging from poor coordination of the graphomotor gesture to a more general and more complex impairment affecting perceptual-motor, cognitive and/or psycho-affective functions.
PubMed: 37761473
DOI: 10.3390/children10091512 -
Sensors (Basel, Switzerland) Oct 2021Five to ten percent of school-aged children display dysgraphia, a neuro-motor disorder that causes difficulties in handwriting, which becomes a handicap in the daily...
Five to ten percent of school-aged children display dysgraphia, a neuro-motor disorder that causes difficulties in handwriting, which becomes a handicap in the daily life of these children. Yet, the diagnosis of dysgraphia remains tedious, subjective and dependent to the language besides stepping in late in the schooling. We propose a pre-diagnosis tool for dysgraphia using drawings called graphomotor tests. These tests are recorded using graphical tablets. We evaluate several machine-learning models and compare them to build this tool. A database comprising 305 children from the region of Grenoble, including 43 children with dysgraphia, has been established and diagnosed by specialists using the BHK test, which is the gold standard for the diagnosis of dysgraphia in France. We performed tests of classification by extracting, correcting and selecting features from the raw data collected with the tablets and achieved a maximum accuracy of 73% with cross-validation for three models. These promising results highlight the relevance of graphomotor tests to diagnose dysgraphia earlier and more broadly.
Topics: Agraphia; Algorithms; Child; Data Management; Handwriting; Humans; Machine Learning
PubMed: 34770333
DOI: 10.3390/s21217026 -
Cureus Apr 2024Alexia without agraphia is a striking vascular syndrome of the acquired inability to read words just written down. This syndrome occurs after lesions in the splenium of...
Alexia without agraphia is a striking vascular syndrome of the acquired inability to read words just written down. This syndrome occurs after lesions in the splenium of the corpus callosum that disconnect the angular gyrus from the visual pathway. Most of the time, a lesion in the left occipital lobe is also present, and patients present with a visual field deficit. It is a classic neurological syndrome that is rarely seen. We present two cases of alexia without agraphia seen in our hospital the same week.
PubMed: 38752100
DOI: 10.7759/cureus.58309