scholarly journals Impact of Rolandic Epilepsy on Language, Cognitive, and Behavioral Functioning in Children: A Review

2018 ◽  
Vol 07 (04) ◽  
pp. 123-135
Author(s):  
Angie Premchand ◽  
Wim Tops
Keyword(s):  
Language Impairment ◽  
Semantic Processing ◽  
Case Reports ◽  
Age At Onset ◽  
Extended Period ◽  
Receptive Language ◽  
Clinical Aspects ◽  
Childhood Epilepsy ◽  
Rolandic Epilepsy ◽  
Online Library

AbstractThe objective of this narrative review was to investigate how the clinical aspects, such as age-at-onset, epilepsy duration, centrotemporal spikes, spike location, and seizure frequency, affect various domains of language, cognition, and behavior in children with benign childhood epilepsy. Data were collected using various research databases, including Wiley Online Library, PubMed Central, Elsevier ClinicalKey, and Springer Complete Journals. Keywords such as “Benign Childhood Epilepsy” or “BECTS and language impairment” were used among other terms. Case reports, meta-analyses, and reviews were excluded. Children with benign childhood epilepsy are mainly impaired in semantic processing (receptive language), working memory, attention/inhibitory control, complex visuospatial skills, and social skills. Functional magnetic resonance imaging reveals not only structural abnormalities, but also alterations in language, sensorimotor, attentional, and social networks, suggesting long-term consequences. It so seems that the occurrence of centrotemporal spikes (with or without seizures), especially at a young age (below 6 years) and for an extended period of time, is the most meaningful contributor to the language, cognitive, and behavioral deficits in benign childhood epilepsy with centrotemporal spikes (BECTS), while the distribution of centrotemporal spikes (left, right, bilateral) seems of only little significance.

scholarly journals A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jhanvi Shah ◽  
Harsh Patel ◽  
Deepika Jain ◽  
Frenny Sheth ◽  
Harsh Sheth
Keyword(s):  
Rett Syndrome ◽  
Language Impairment ◽  
Rare Case ◽  
De Novo ◽  
Present Report ◽  
Case Reports ◽  
Somatic Mosaicism ◽  
Receptive Language ◽  
Dominant Mode ◽  
Severe Intellectual Disability

Abstract Background Rett syndrome (RTT) is characterized by a normal perinatal period with a normal head size at birth followed by normal development for the first 6 months of life followed by gradual deceleration of head growth, loss of acquired purposeful hand skills, severe expressive and receptive language impairment, severe intellectual disability and gait and truncal apraxia/ ataxia. It is caused due to mutations in the MECP2 gene and follows an X-linked dominant mode of inheritance. It was observed exclusively in females and was believed to be lethal in males. In contrast to this belief, several males were identified with RTT upon genetic analysis, however, most males expired by the age of 2 years due to neonatal encephalopathy. The ones that survived beyond the age of 2 years, were attributed to the presence of an extra X chromosome (co-occurrence of Klinefelter and RTT) or the ones having mosaic cell lines. Only 11 males with somatic mosaicism are known till date. Case presentation This case reports an ultra-rare case of a male affected with RTT surviving beyond the age of 2 years due to post-zygotic de novo somatic mosaicism. He was identified with a known pathogenic variant c.538C > T (p.R180*), which to the best of our knowledge is exclusively seen in females and has never been reported in a male before. Conclusion The present case is the first report of a mosaic male affected with RTT from India. The present report also carried out genotype-phenotype correlations across surviving mosaic males with RTT. We also postulate the effect of variant type, position along the gene and the variant allele fraction in different tissue types to be correlated with disease severity.

scholarly journals Filling paste extruded from primary root canal remains for extended period: Two case reports

2006 ◽  
Vol 16 (1) ◽  
pp. 111-114 ◽  
Author(s):  
Kazuhiko Nakano ◽  
Noriko Shimizu ◽  
Serina Umemura ◽  
Kaori Nishio ◽  
Takashi Ooshima
Keyword(s):  
Root Canal ◽  
Case Reports ◽  
Primary Root ◽  
Extended Period

scholarly journals A Case of Carbamazepine-Induced Aggravation of Self-Limited Epilepsy with Centrotemporal Spikes Epilepsy and Valproate-Induced Hyperammonemic Encephalopathy in a Child with Heterozygous Gene Variant of Carbomoyl Phosphatase Synthetase Deficiency

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Imalke Kankananarachchi ◽  
Eresha Jasinge ◽  
Gemunu Hewawitharana
Keyword(s):  
Side Effect ◽  
Slow Wave Sleep ◽  
Elevated Serum ◽  
Normal Liver ◽  
Amino Acid Profile ◽  
Genetic Mutation ◽  
Childhood Epilepsy ◽  
Gene Variant ◽  
Rolandic Epilepsy ◽  
The Right

Antiepileptics drugs are the mainstay of the management of epilepsy in children. Sodium valproate (VPA) and carbamazepine (CBZ) are widely used medications in childhood epilepsy. Hyperammonemia has been described as a known side effect of valproate therapy. It is known that VPA-associated HA is common among patients who hold genetic mutations of the carbomoyl phosphatase synthase 1 gene (CPS1). Aggravation of self-limited epilepsy with centrotemporal spikes (SLECTS) is a rare side effect of CBZ. Here, we present a child who had CBZ-induced aggravation of rolandic epilepsy and VPA-induced HA encephalopathy in the background of an unrecognised heterozygous gene variant of CPS1. An 8-year-old boy with SLECTS presented with a history of abnormal behaviours and drowsiness. He was apparently well until six years when he developed seizures in favour of rolandic epilepsy. His electroencephalogram (EEG) showed bilateral predominantly on the right-sided central-temporal spikes and waves. The diagnosis of SLECTS was made, and he was commenced on CBZ. Though he showed some improvement at the beginning, his seizure frequency increased when the dose of CBZ was increased. His repeat EEG showed electrical status in slow-wave sleep, and CBZ was stopped. Subsequently, he was started on VPA, and with that, he developed features of encephalopathy. He had elevated serum ammonia with normal liver functions. VPA was stopped with the suspicion of VPA-induced hyperammonemia. Tandem mass spectrometry did not show significant abnormality in the amino acid profile. Specific genetic analysis revealed a c.2756 C > T.p (Ser919Leu) heterozygote genetic mutation of the CSP 1 gene. This is a classic example where side effects of treatment determine the choice of antiepileptics drugs (AEDs) in childhood epilepsy. It is essential to keep in mind that SLECTS can be aggravated with certain AEDs, and VPA-induced HA in the absence of live failure could be due to underlying inherited metabolic disorders.

scholarly journals Dysgraphic features in motor neuron disease: a review

2021 ◽  
Author(s):  
Edoardo Nicolò Aiello ◽  
Sarah Feroldi ◽  
Alice Naomi Preti ◽  
Stefano Zago ◽  
Ildebrando Marco Appollonio
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Language Impairment ◽  
Oral Language ◽  
Case Reports ◽  
Angular Gyrus ◽  
Meta Analyses ◽  
Graphemic Buffer ◽  
Left Angular Gyrus ◽  
Writing Errors

AbstractBackgroundMotor neuron disease (MND) patients can show oral language deficits mimicking those of frontotemporal degenerations (FTD). Although dysgraphic features have been also reported within the MND-FTD continuum, their characteristics and clinical relevance are still largely unexplored.AimsTo profile writing disorders in MND patients can help further define their cognitive semiology and thus conveys relevant clinical entailments. Therefore, this study aimed at reviewing evidence of writing impairment in MND patients. This review was implemented and reported by consulting Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Qualitative/quantitative measures of writing abilities in MND patients was the primary outcome. Both group studies and case reports/series were taken into consideration. Twenty-four contributions were included out of an initial N=83. Potential biases in generalizing results were qualitatively controlled for by extracting background, disease-related, neuropsychological and neuroanatomofunctional secondary outcomes.Main ContributionFifteen studies assessed writing abilities in Japaneses patients, whereas the remaining eight in western patients. Central dysgraphic features were reported in both neuropsychologically-impaired and –unimpaired MND patients. Phonetic/phonological paragraphias and morpho-syntactic errors were frequently reported. Although FTD was frequently co-occurent, neither cognitive nor language impairment fully accounted for writing impairment in some patients. By contrast, evidence of peripheral dysgraphia was scarce. Patients displaying writing deficits often presented with bulbar signs and perisylvian cortices involvement (including Exner’s area and the left angular gyrus). Writing deficits proved to be associated with abnormalities in executive functioning and its neural substrates. Writing-to-dictation tasks as well as writing samples assessment proved to be useful to detect writing errors.ConclusionsDysgraphic features in MND patients might be due to dysfunctions of the graphemic buffer – and possibly the phonological route. The lexico-semantic route appeared to be less involved. However, a mixed peripheral/central involvement cannot be ruled out. In this population, executive/attentive deficits are likely to contribute to writing errors as well. Writing deficits might thus be specific of MND patients’ cognitive/language impairment profile. The evaluation of writing abilities via writing-to-dictation/narrative writing tasks may be useful when assessing cognition/language in both neuropsychological-impaired and -unimpaired MND patients - especially when severe dysarthria/anarthria is present and prevents clinicians from assessing oral language.

Patterns of Language Impairment in Early ALS

2020 ◽  
pp. 10.1212/CPJ.0000000000001006
Author(s):  
Marta Pinto-Grau ◽  
Bronagh Donohoe ◽  
Sarah O’Connor ◽  
Lisa Murphy ◽  
Emmet Costello ◽  
...  
Keyword(s):  
Language Processing ◽  
Language Impairment ◽  
Semantic Processing ◽  
Language Change ◽  
Lexical Processing ◽  
Word Reading ◽  
Executive Dysfunction ◽  
Population Based ◽  
Word Naming ◽  
Word Spelling

ABSTRACTObjective.To investigate the incidence and nature of language change and its relationship to executive dysfunction in a population-based incident ALS sample, with the hypothesis that patterns of frontotemporal involvement in early ALS extend beyond areas of executive control to regions associated with language processing.Methods.One hundred and seventeen population-based incident ALS cases without dementia and 100 controls matched by age, sex and education were included in the study. A detailed assessment of language processing including lexical processing, word spelling, word reading, word naming, semantic processing and syntactic/grammatical processing was undertaken. Executive domains of phonemic verbal fluency, working memory, problem-solving, cognitive flexibility and social cognition were also evaluated.Results.Language processing was impaired in this incident cohort of individuals with ALS, with deficits in the domains of word naming, orthographic processing and syntactic/grammatical processing. Conversely, phonological lexical processing and semantic processing were spared. While executive dysfunction accounted in part for impairments in grammatical and orthographic lexical processing, word spelling, reading and naming, primary language deficits were also present.Conclusions.Language impairment is characteristic of ALS at early stages of the disease, and can develop independently of executive dysfunction, reflecting selective patterns of frontotemporal involvement at disease onset. Language change is therefore an important component of the frontotemporal syndrome associated with ALS.

scholarly journals On Clinical Utility and Systematic Reporting in Case Studies of Healthcare Process Mining. Comment on: 10.3390/ijerph17041348 “Towards the Use of Standardised Terms in Clinical Case Studies for Process Mining in Healthcare”

2020 ◽  
Vol 17 (22) ◽  
pp. 8298
Author(s):  
Dylan A. Mordaunt
Keyword(s):  
Public Health ◽  
Case Studies ◽  
Clinical Utility ◽  
Clinical Case ◽  
Process Mining ◽  
Case Reports ◽  
Environmental Research ◽  
Clinical Aspects ◽  
Clinical Case Studies ◽  
Healthcare Process

Recently in Environmental Research and Public Health, Helm and colleagues reported on a systematic review of healthcare process mining (HPM) case reports, focusing on the reporting of technical and clinical aspects and discussing standardisation terms in future HCM reports utilising existing ontologies [...]

scholarly journals Oral Manifestations in Patients with COVID-19: A Living Systematic Review

2020 ◽  
pp. 002203452095728 ◽  
Author(s):  
J. Amorim dos Santos ◽  
A.G.C. Normando ◽  
R.L. Carvalho da Silva ◽  
A.C. Acevedo ◽  
G. De Luca Canto ◽  
...  
Keyword(s):  
Systematic Review ◽  
Case Reports ◽  
Signs And Symptoms ◽  
Clinical Aspects ◽  
Cross Sectional ◽  
Oral Manifestation ◽  
Oral Mucosal Lesions ◽  
Taste Disorders ◽  
Mucosal Lesions ◽  
Erythematous Plaques

This living systematic review aims to summarize evidence on the prevalence of oral signs and symptoms in patients with COVID-19. The review was reported per the PRISMA checklist, and the literature search was conducted in 6 databases and in gray literature. Studies published in any language mentioning oral symptoms and signs in patients with COVID-19 were included. The risk of bias was assessed by the Joanna Briggs Institute appraisal tools. The certainty of evidence was evaluated through GRADE assessment. After a 2-step selection, 40 studies were included: 33 cross-sectional and 7 case reports. Overall, 10,228 patients (4,288 males, 5,770 females, and 170 unknown) from 19 countries were assessed. Gustatory impairment was the most common oral manifestation, with a prevalence of 45% (95% CI, 34% to 55%; I2 = 99%). The pooled eligible data for different taste disorders were 38% for dysgeusia and 35% for hypogeusia, while ageusia had a prevalence of 24%. Taste disorders were associated with COVID-19 (odds ratio [OR], 12.68; 95% CI, 6.41 to 25.10; I2 = 63%; P < 0.00001), mild/moderate severity (OR, 2.09; 95% CI, 1.25 to 3.49; I2 = 66%; P = 0.005), and female patients (OR, 1.64; 95% CI, 1.23 to 2.17; I2 = 70%; P = 0.0007). Oral mucosal lesions presented multiple clinical aspects, including white and erythematous plaques, irregular ulcers, small blisters, petechiae, and desquamative gingivitis. Tongue, palate, lips, gingiva, and buccal mucosa were affected. In mild cases, oral mucosal lesions developed before or at the same time as the initial respiratory symptoms; however, in those who required medication and hospitalization, the lesions developed approximately 7 to 24 d after onset symptoms. Therefore, taste disorders may be common symptoms in patients with COVID-19 and should be considered in the scope of the disease’s onset and progression. Oral mucosal lesions are more likely to present as coinfections and secondary manifestations with multiple clinical aspects (PROSPERO CRD42020184468).

scholarly journals Oral Health and Molecular Aspects of Malignant Fibrous Histiocytoma Patients: A Systematic Review of the Literature

2020 ◽  
Vol 17 (4) ◽  
pp. 1426
Author(s):  
Khrystyna Zhurakivska ◽  
Giuseppe Troiano ◽  
Marco Montella ◽  
Lorenzo Lo Muzio ◽  
Luca Fiorillo ◽  
...  
Keyword(s):  
Systematic Review ◽  
Soft Tissue ◽  
Malignant Fibrous Histiocytoma ◽  
Soft Tissues ◽  
Fibrous Histiocytoma ◽  
Case Reports ◽  
Soft Tissue Sarcomas ◽  
Clinical Aspects ◽  
Risk Of Death ◽  
Short Period

Malignant fibrous histiocytoma is one of the most common soft tissue sarcomas in adults. It occurs only occasionally in oral soft tissues, and knowledge about its characteristics is based on a limited number of cases reported in the literature. Malignant fibrous histiocytoma belongs to the group of soft tissue sarcomas and makes up less than 10% of soft tissue sarcomas. For therapeutic purposes, complete exeresis of the lesion (macroscopic and microscopic) is performed because they have frequent recurrences. As for complementary therapy in addition to surgery, neither radiotherapy nor chemotherapy have been shown to reduce the risk of death related to the disease. Often patients complain of a swelling that grows in a short period of time. It is quite common for patients to report trauma in the area, which is not the cause, but rather the event that allows diagnosis. The mass usually does not cause pain unless it compresses an adjacent nerve structure. The aim of this study is to systematically review the scientific literature in order to identify the most recent studies concerning malignant fibrous histiocytomas localized in oral soft tissues and report their main data. The main outcomes of this study concern the immunohistochemical, molecular, and clinical aspects of this pathology. A systematic review of articles in the electronic databases pubmed, Scopus, and Web of Science was performed. After the selection process, 11 studies met the inclusion criteria and were included in the review. The mean age of the patients was 50.8 years old. The lesions affected various parts of the oral cavity, showing predominantly storiform–pleomorphic patterns. All cases except one were treated with surgical resection and radiation therapy. Although some data emerged from this review, they remain limited to a few case reports. Further studies are necessary in order to standardize the approach to patients affected by oral malignant fibrous histiocytoma (MFH).

The Identification of Language Impairment in the Selection of Specifically Language-Impaired Subjects

1990 ◽  
Vol 55 (3) ◽  
pp. 468-475 ◽  
Author(s):  
Rebecca J. McCauley ◽  
M. J. Demetras
Keyword(s):  
Language Impairment ◽  
Receptive Language ◽  
Research Literature ◽  
Language Impaired ◽  
Wide Range ◽  
Test Use ◽  
The Impact ◽  
Specific Number ◽  
Source Of Information ◽  
Selection Of

This review focused on the methods used to identify language impairment in specifically language-impaired subjects participating in 72 research studies that were described in four journals from 1983 to 1988. The single most frequent source of information used in the identification process was found to be test data. There was, however, considerable variability and, often, a lack of clarity regarding the specific number and identity of tests used. More specific findings on test use indicated that researchers routinely assessed both expressive and receptive language and that they used incomplete tests. When test scores used in identification and selection were examined, there was a wide range of score types, and age-equivalent scores were by far the most common and often the only type of score utilized. Conclusions are drawn regarding the impact of these findings on the interpretation and generalizability of this research literature.

Pragmatics and SLI

1993 ◽  
Vol 36 (4) ◽  
pp. 777-789 ◽  
Author(s):  
Holly K. Craig ◽  
Julia L. Evans
Keyword(s):  
Language Impairment ◽  
Specific Language Impairment ◽  
Language Skills ◽  
Receptive Language ◽  
Chronological Age ◽  
Specific Language ◽  
Language Status ◽  
Pragmatic Research ◽  
Normal Language ◽  
Mean Length Of Utterance

Selected discourse behaviors of children with specific language impairment (SU) presenting expressive (E:SLI) or combined expressive-receptive deficits (E-R:SLI) were compared to each other and to chronological age-mates and younger mean length of utterance (MLU)-matched children with normal-language skills. The two SLI subgroups varied from each other on specific measures of tum-taking and cohesion. These findings imply the need for future normative work with SLI subgroups differing in receptive skill, and indicate that, in the interim, pragmatic research with this population will need to consider potential effects of receptive language status when interpreting variations in outcomes for discourse-based variables.

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