Cognitive phenotypes in adults with temporal lobe epilepsy from South Africa - A contribution to the international classification of cognitive disorders in epilepsy (IC-CoDE).

Children with language impairment (LI) experience increased mental health challenges, which may be reflected in the words they use to tell stories. We examined whether children with LI produced more emotionally negative narratives than typically developing (TD) children, and whether lower lexical diversity (a proxy for vocabulary size) was associated with more negativity. Language samples were analyzed from four corpora, totaling 1197 children, ages 3–15. In the two larger corpora, there was evidence for increased negativity in LI children compared to TD children. However, this increased negativity in LI children was not observed across all measures of emotional valence in the two larger corpora, nor was it observed in any measure in the two smaller corpora (and was in the opposite direction on one measure in one of the smaller corpora). There were many associations within both the LI and TD groups between lower lexical diversity and more negativity, indicating that children with smaller vocabularies produced narratives with elevated negativity, but these associations were generally small and sometimes absent or in the reverse direction. In sum, the negative emotions that are known to be experienced by children with weaker language abilities may manifest in their stories, but the results were inconclusive, and more research is needed. Implications for speech-language pathology and clinical psychology are discussed.

Awake craniotomy is increasingly used as the criterion standard for glioma resection in the perisylvian region to preserve language function. Perioperative language assessment of patients with glioma who underwent awake surgery was conducted to examine the characteristics of language impairment, including written language. The present study retrospectively analyzed cases of glioma involving language areas in patients who underwent awake craniotomy between April 2021 and December 2024. Background of the patients, surgical outcomes, and perioperative Japanese language functions, including speaking, listening, reading, and writing, were assessed using the Standard Language Test for Aphasia (SLTA). We collected data from 8 patients who underwent awake craniotomy, including 1 bilingual patient (Japanese and Vietnamese). An object naming task was used for intraoperative mapping in all cases. Pathological diagnoses included 4 low-grade gliomas and 4 glioblastomas. Subtotal resection was achieved in 2 cases, partial resection in 4 cases, and biopsy was performed in 2 cases. Postoperative assessments indicated both improvement and deterioration in language function across major domains, except for reading. Writing function declined in 3 of 5 patients with SLTA deficits. Younger patients and those without contrast-enhancing mass lesions showed a greater tendency toward writing deterioration, although this was not significant. Nevertheless, all patients eventually demonstrated improvement in writing function. Careful evaluation of not only speech, but also writing may be important, especially in younger patients and those without contrast-enhancing tumors. Incorporating attention to writing during awake mapping may help preserve broader language function and improve quality of life.

The phenotypic spectrum associated with pathogenic ARID1B variants is remarkably broad, ranging from classic Coffin-Siris syndrome to non-syndromic intellectual disability and autism spectrum disorders. While speech delay, motor impairments and learning difficulties are well documented, brain imaging investigations remain scarce in this population. We combined multimodal neuroimaging and neuropsychological assessments in 12 patients carrying pathogenic ARID1B variants (age = 13.8 ± 4.7 years) and 34 age-matched healthy controls. Whole-brain voxel-wise analyses included arterial spin labelling to measure cerebral blood flow (CBF) at rest and voxel-based morphometry to assess grey matter density. To investigate white matter abnormalities, we performed fixel-based analysis in a subgroup of 7 patients and 17 age-matched controls. While patients showed pronounced language, motor and social impairments, their memory performance ( + 5 SD) largely exceeded other cognitive and motor skills. Whole-brain voxel-wise analyses showed a significant bilateral increase of CBF at rest in several limbic structures, including hippocampi and visual areas. They also showed significant decrease in grey matter density and fibre density in the same limbic structures, language, motor and social circuits. This paradoxical coexistence of hyperperfusion and structural deficits within memory networks suggests functional resilience or compensatory mechanisms. These preserved visual and memory functions strongly contrasted with their impaired language, motor, and social abilities. Patients appeared to rely on visual cues and memory to compensate for deficits in verbal communication. These findings support the development of individualized and innovative interventions that build on preserved visual and memory abilities in children with pathogenic ARID1B variants.

The Comprehensive High-dose Aphasia Treatment (CHAT) programme is an intensive comprehensive aphasia programme, which aims to address evidence-practice gaps in aphasia rehabilitation where there are known barriers to service delivery requiring implementation strategies. The aims of this study are to (1) evaluate the clinical implementation of the CHAT programme, (2) assess the clinical effectiveness of CHAT compared with usual care in rehabilitation services and (3) determine whether the real-world implementation of CHAT compared with usual care is cost-effective. Four participant groups will be recruited across six hospital and health services Australia-wide to participate in a type 3 hybrid effectiveness-implementation study: (1) people with aphasia, (2) support persons, (3) treating clinicians and students and (4) clinical stakeholders (eg, managers). This before-and-after study will include three time periods: (1) 'usual care' where people with aphasia will receive their usual care aphasia therapy, (2) 'implementation transition' where clinicians will be trained to deliver CHAT and (3) 'intervention implementation' where people with aphasia will receive the CHAT programme (ie, 50 hours of evidence-based aphasia therapy over 8 weeks). Evidence-based implementation strategies will be used to facilitate implementation within participating rehabilitation services. The primary outcome is delivery of evidence-based aphasia treatment (ie, CHAT) as measured by a composite score of quality indicators. Clinical effectiveness outcomes, measuring change in language impairment, communication effectiveness, confidence and quality of life, and implementation outcomes will also be examined. We will also conduct an embedded mixed-methods process evaluation and economic evaluation. This study has been approved by the Royal Brisbane and Women's Hospital Human Research Ethics Committee (HREC/2021/QRBW/72154). Outputs will include conference presentations, publications and a training package to optimise implementation of aphasia treatment in rehabilitation service contexts. Australian New Zealand Clinical Trials Registry (ANZCTR) prospective registration ACTRN12621001765819. Trial registered 23 December 2021. https://anzctr.org.au/Trial/Registration/TrialReview.aspx?id=381365&isReview=true.

This study explores the relationship between vitamin E and Alzheimer's disease (AD), a neurodegenerative disorder characterized by cognitive decline, memory loss, and language impairment. Vitamin E is a fat-soluble antioxidant crucial in protecting cells from oxidative damage. The biochemistry and bioavailability of vitamin E are discussed, including its absorption, transport, and storage in the body. The section on interactions between vitamin E and other nutrients and herbals highlights how combining vitamin E supplements with other supplements or medications can affect its absorption, metabolism, and effectiveness. This study also discusses the potential therapeutic effects of vitamin E on AD, including its ability to reduce oxidative stress and inflammation, which are thought to play a role in the pathophysiology of AD. It explores the synergistic effects of vitamin E with pharmaceuticals and potential side effects, and covers the use of vitamin E in combination with other drugs for AD treatment, such as cholinesterase inhibitors and memantine, as well as the possible adverse effects of vitamin E supplementation. Overall, this study highlights the importance of vitamin E in preventing and managing AD and underscores the need for further research in this area.

Post-stroke aphasia is a prevalent and often disabling language impairment. Despite its high incidence, the neuropathological mechanisms underlying post-stroke aphasia and the neural substrates of functional recovery remain poorly understood. Understanding these mechanisms is essential for developing targeted rehabilitation strategies. In this study, we used fNIRS to collect resting-state data from three participant groups. Pearson correlation was applied to compute whole-brain functional connectivity, followed by graph theory analysis to compare global and regional network characteristics across groups. Compared with the healthy control (HC) group, the aphasia group exhibited significantly reduced whole-brain functional connectivity and a lower global clustering coefficient. Further nodal analysis revealed alterations in both node degree and nodal efficiency within the aphasia group. Notably, the local efficiency of the right-hemisphere homologue of Broca's area and the right dorsolateral prefrontal cortex (DLPFC) was significantly higher than that in the HC group. Furthermore, network hub analysis identified the right supplementary motor area (SMA) as a prominent global hub, demonstrating its elevated centrality within the overall network of the aphasia group. While global network topological metrics did not differ significantly after correction for multiple comparisons, exploratory analyses revealed trends toward reduced clustering and increased global efficiency. Regional nodal analysis identified specific alterations in right-hemisphere homologues, providing potential targets for neuroregulation in aphasia rehabilitation.

To explore the genetic characteristics of a rare pedigree with maternal cryptic reciprocal insertional balanced translocation in order to provide genetic counseling and prenatal diagnosis. A pregnant woman undergoing prenatal diagnosis at Taizhou Hospital on December 19, 2019 and February 7, 2022 and her family members were selected as study subjects. Clinical data of the pedigree were collected. Chromosomal G-banding analysis was performed on the fetus, the couple, and the parents of the pregnant woman. High-throughput genomic copy number variation sequencing (CNV-seq) was also carried out. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: K20201009). The pregnant woman was G5P2. Her first pregnancy had delivered by Cesarean section at full-term. The infant had died 10 days after due to hydrocephalus. Her second pregnancy had also delivered by Cesarean section at full-term. The infant underwent resection of congenital megacolon at 6 months of age. At 16 he still showed developmental delay, extremely low intelligence, and language impairment. Her third pregnancy had resulted in spontaneous abortion at 8 weeks of gestation. During her fourth pregnancy, amniotic fluid was collected at 19 weeks for prenatal diagnosis. During her fifth pregnancy, ultrasound revealed mild separation of fetal renal collecting systems, and amniotic fluid was collected at 20 weeks for prenatal diagnosis. The woman's first and second pregnancies were managed by other hospitals, and the result of chromosomal testing was not available. No relevant test was performed upon her third pregnancy. During her fourth pregnancy, analysis of amniotic fluid sample showed a fetal karyotype of 46,U,der(13)ins(13;16)(q31.1;q21q21)mat, and CNV-seq analysis revealed an 8.54 Mb deletion at 13q31.1q31.3 and a 2.88 Mb duplication at 16q21q21. During the fifth pregnancy, analysis of amniotic fluid sample revealed a fetal karyotype of 46,U,der(16)ins(16;13)(q21;q22.2q31.3)mat, and CNV-seq analysis had indicated a 7.8 Mb duplication at 13q22.2q31.1, an 8.54 Mb duplication at 13q31.1q31.3, and a 2.88 Mb deletion at 16q21q21. Analysis of maternal blood sample revealed a karyotype of 46,XX,ins(13;16)(q31.1;q21q21),ins(16;13)(q21;q22.2q31.3), suggested that the woman has carried a cryptic reciprocal insertional balanced translocation, for which the CNV-seq result were normal. The karyotypes and CNV-seq results of her husband and parents were all normal. The deletion or duplication of 13q31.1q31.3 and 16q21q21 may be the genetic etiology of the adverse pregnancies. The unbalanced gametes may have all resulted from the cryptic reciprocal insertional balanced translocation carried by the woman.

The existing literature highlights the importance of psychosexual education for adolescents with autism spectrum disorder (ASD). We developed a group training program on sexuality and affectivity, specifically designed for adolescents with ASD, with the aim of investigating changes in psychosexual functioning after the intervention and evaluating its clinical utility. The program, consisting of 10 sessions and conducted by two expert clinicians, was administered to three small groups (maximum six participants per group), for a total of 17 adolescents (aged 12-18) diagnosed with ASD without intellectual disability or language impairment. Parent-report measures of sociosexual behaviors were collected at baseline (T0), after the intervention (T1), and at a three-month follow-up (T2). Cognitive abilities and ASD symptom severity were also assessed at baseline for each participant. No significant differences emerged among the three groups in terms of cognitive functioning or ASD symptom severity. Analysis of the entire sample revealed a significant improvement in sex education knowledge and a reduction in dysfunctional sexual behaviors following participation in the program, regardless of cognitive level or symptom severity. Conversely, no significant changes were found in social behaviors related to sexuality, privacy awareness, or parental concerns. These findings suggest that participation in a psychosexual group training program tailored for adolescents with ASD may enhance knowledge and reduce problematic behaviors in the sociosexual domain. Future implementations may benefit from increasing the number of sessions, employing both self- and parent-report measures, including satisfaction and fidelity assessments, and involving caregivers in parallel sessions to maximize clinical impact.

This study investigated decontextualized talk produced by preschoolers with language impairment. Although literature has highlighted the pivotal transition from using "here and now" to using "there and then" language in typically developing children entering preschool age, there is limited understanding of this phenomenon in children with developmental disorders. This study analyzed play-based conversations between four preservice speech-language pathologists (SLPs) and two participant groups: children with autism spectrum disorder (ASD; n = 7) and children with developmental language disorder (DLD; n = 9). Data collection included video-recorded conversation samples and standardized assessments of child receptive language development. For dyadic measures, the study examined group differences in total conversation turns, turn-taking rates, and proportion of decontextualized turns. For child and adult language measures, the study analyzed their speech samples, including mean length of utterance (MLU) in words and number of different words (NDW) per minute, and preservice SLPs' use of language facilitation techniques during play-based conversations. Our findings revealed that dyads from both groups (DLD, ASD) engaged in decontextualized talk (narratives, explanations). Children's standardized language measures correlated with decontextualized talk and conversation turns, although no group differences were observed in these measures. Analysis of preservice SLPs' language behaviors showed equivalent linguistic input (syntactic length, lexical diversity) and comparable use of language facilitation techniques across diagnostic groups. Preservice SLPs' use of repetition showed strong positive correlations with children's immediate language outcomes (MLU in words, NDW per minute). When controlling for both child age and adult facilitation technique use, group differences in dyadic measures remained nonsignificant. This lack of group differences may be attributed to the unique features of language elicited from child-led free-play, a small sample size, and the heterogeneity of language profiles even within two diagnostic groups. Results provide new information about play-based verbal interactions of children with DLD and ASD, suggesting potential for clinicians to incorporate decontextualized talk into interventions. Future studies can examine the effects of decontextualized talk strategies, such as engaging children in narratives and explanations in more structured activities, on their language outcomes.

Childhood apraxia of speech (CAS) is a motor speech disorder often co-occurring with language impairment and complex neurodevelopmental disorders. An association between autism spectrum disorder (ASD) and CAS has been suggested but not definitely quantified. The reported prevalence of CAS has been variable. The current study sought to quantify prevalence of apraxia as well as comorbid ASD presentation in a pediatric population in a large outpatient hospital setting. An electronic medical record (EMR) was used to identify all pediatric clients between the ages of 24 and 48 months that presented to the outpatient clinic between January 1, 2016, and March 28, 2022. Clients were included that had either a primary or secondary diagnosis of expressive language disorder, language disorder or apraxia with treatment focusing on intelligibility, or articulation disorder. A total of 7,550 results were produced by the EMR, analysis revealed that 1,477 (19.6%) of the children had received a diagnosis of ASD, and 184 (2.4%) received a diagnosis of apraxia. Nineteen of the children with ASD also received a comorbid diagnosis of apraxia (1.3%). In addition, several additional diagnoses comorbidly presenting with CAS were explored, including ASD, mixed expressive-receptive language disorder, phonological disorder, and other developmental disorders of speech and language, but none were found to be positive significant predictors of a CAS diagnosis. Findings of the current study (prevalence of CAS at 2.4%) are in agreement with previous literature. Results of comorbidity analysis of ASD and CAS revealed that the presentation of these comorbid diagnoses is not as rare as previously found yet not as frequent.

Background/Objectives: DDX3X syndrome (MIM#300958) is a neurodevelopmental disorder associated with intellectual disability, language impairment, and a characteristic neurobehavioral phenotype that predominantly affects females. Although dysmorphic features have been reported, a consistent facial phenotype and clear genotype–phenotype correlations have not been established. Methods: We conducted an observational, ambispective, descriptive study including patients aged 0–18 years with a molecular diagnosis of DDX3X. Clinical, standardized facial images, neurobehavioral, neuroimaging, and molecular data were collected. Automated facial analysis was performed using Face2Gene after algorithm training. Results: Of 11 identified patients, 9 were included (8 females); 8 variants were de novo and 4 novel. Two variants of uncertain significance underwent in silico analysis. Frequent facial features included thin upper lip (9/9), tapered chin (8/9), long uniform eyebrows (8/9), short neck (8/9), and long face (6/9). After training, Face2Gene identified DDX3X syndrome in 92% of cases within the top 5 suggestions, supporting its utility as a diagnostic aid. All females had intellectual disability and language disorder; 66% presented sleep disturbances and aggressive behavior. Neuroimaging revealed ventricular dilatation (5/9) and corpus callosum hypoplasia (3/9). Loss-of-function variants were associated with greater clinical severity. Conclusions: This series suggests a recognizable facial phenotype of DDX3X syndrome and supports a possible genotype–phenotype correlation. Further studies are needed to confirm these findings.

Background Frontotemporal dementia is an umbrella term that encompasses several clinical syndromes with impaired behavioral, language, and motor functions. These syndromes show considerable overlap in clinical features and imaging patterns. Therefore, there is a need to investigate the syndromic heterogeneity in FTD using unbiased data-driven approaches. Methods We used data-driven clustering analysis of structural magnetic resonance imaging (MRI) data on 400 patients with clinical FTD diagnoses [behavioral variant of frontotemporal dementia (bvFTD), semantic variant of primary progressive aphasia (svPPA), right temporal variant of frontotemporal dementia (rtvFTD), apraxia of speech with agrammatic aphasia (AOS-PAA), primary progressive apraxia of speech (PPAOS), progressive supranuclear palsy (PSP), corticobasal syndrome (CBS) and primary progressive aphasia who did not fit into the other diagnostic categories (PPA-other)]. MR images were w-scored relative to cognitively unimpaired individuals, and principal component analysis was performed. A clustering ensemble approach, including hierarchical algorithms, was applied to the MR-based principal components, and imaging and clinical characteristics of the clusters were investigated. Various numbers of clusters ( K = 2, 3, or 4) were evaluated. Results The K = 3 solution offered the most clinically meaningful separation of FTD syndromes. The first cluster captured mostly frontal MRI abnormalities related to the speech, language and behavioral clinical dimensions, including patients with AOS-PAA, PPAOS, PPA-other, and bvFTD. The second cluster captured mostly temporal abnormalities and included mainly patients with svPPA and rtvFTD, but also bvFTD, AOS-PAA, and PPA-other. The third cluster captured cortical and subcortical atrophy, particularly in the midbrain, and included atypical Parkinsonian syndromes, with all PSP and CBS patients captured in this cluster, as well as most PPAOS patients. Considerable overlap of clinical syndromes was noted across these clusters, whereby patients with AOS-PAA, svPPA, PPA-other, and bvFTD were captured in more than one cluster. Discussion Our findings highlight heterogeneity in FTD, which mainly exists along three axes: speech, language and behavioral deficits reflecting frontal atrophy, language deficits reflecting temporal atrophy, and motor and motor speech deficits reflecting mostly midbrain and subcortical atrophy, with cortical involvement.

Early Vocal Development in Tuberous Sclerosis Complex Predicts Language but Not Autism Outcomes.

Linguistic vulnerabilities in mild cognitive impairment: Evidence from the DTLA-Tr screening battery.

Navigating the italian landscape of post-stroke aphasia treatment: Insights from the clinical practice of speech and language therapists.

Clinical triage, but also inclusive population sampling in research, requires efficient detection of children likely to be at risk for language impairment (LI), a significant challenge in the case of bilingual children. Our goal was to derive automatic risk factor indices from a parental questionnaire and compare their usefulness in initial identification of children at risk for LI. Alternative risk factor indices were derived from the Quantifying Bilingual Language Experience (Q-BEx) online questionnaire backend calculator, differing in the weight and detail given to language proficiency. Each index was applied to two data sets composed of 5- to 8-year-old children: one with independent diagnosis of developmental language disorder (DLD)/typical development (TD; 109 bilingual children tested in France) and one of largely all-comer children (278 bilingual and monolingual children tested in France, the Netherlands, and the United Kingdom). We compared how these alternative indices predicted (likely) DLD/TD status and structural language outcomes, assessed with Language Impairment Testing in Multilingual Settings tools, designed for bilingual children. RF4-min, a risk factor index composed of four equally weighted components (age of first word, age of first sentence, early development concerns, and strongest speaking skills between the home/heritage language and the societal language), satisfactorily separated bilingual children according to developmental status and was a significant predictor of language outcomes. This composite score showed the best balance between separability, sensitivity, and predictive value compared to indices without a proficiency component or with a more heavily weighted/detailed proficiency component. RF4-min, a Q-BEx automatically derived composite risk factor index, yielded promising results, indicating usefulness as part of first-level triage for LI. https://doi.org/10.23641/asha.32080185.

This study aimed to identify neuropsychiatric, motor, and cognitive features associated with accelerated disease progression in behavioral variant frontotemporal dementia (bvFTD). 192 participants were classified as having mild or moderate disease severity based on CDR + NACC FTLD global scores, with scores of 0.5 or 1.0 defined as mild (n = 106) and 2.0 as moderate (n = 86). Participants were further categorized as having accelerated (mild: n = 35; moderate: n = 32) or non-accelerated (mild: n = 71; moderate: n = 54) progression rates based on change in CDR + NACC FTLD-SB sum of boxes (SB) scores (≥ 3.5 points) between Visit 1 and 2. Random forest modeling and logistic regression identified features most predictive of accelerated progression within each group. In mild bvFTD, episodic memory impairment and presence of frontal-behavioral neuropsychiatric symptoms were predictive of accelerated progression, whereas in moderate bvFTD, language impairments and motor signs were the strongest predictors. Identified features improved prediction of accelerated progression beyond demographic and clinical factors in mild (∆R2 = .22, p < 0.001) and moderate bvFTD (∆R2 = 0.11, p = 0.08) but did not achieve statistical significance in the moderate group. Distinct clinical profiles predict accelerated progression in mild versus moderate bvFTD, underscoring the importance of stage-specific clinical markers for prognosis and care.

ObjectiveTo summarize the clinical characteristics, treatment response, and prognosis of epilepsy associated with SYNGAP1 gene variants.MethodsClinical and genetic data of six children diagnosed with SYNGAP1-related epilepsy at the Children's Hospital Affiliated to Zhengzhou University between November 2019 and February 2025 were retrospectively analyzed.ResultsAmong the six patients (four males and two females), the median age at seizure onset was 2 years and 8 months. All patients showed moderate to severe motor and language developmental delay, with prominent language impairment. Seizure types were heterogeneous, mainly including myoclonic seizures, eyelid myoclonia with or without absence seizures, myoclonic–atonic seizures, and absence seizure. Two patients had a history of febrile seizures, and four had identifiable seizure triggers. Electroencephalography revealed generalized or multifocal epileptiform discharges in all patients. Genetic analysis revealed that all six variants were de novo, involving five distinct variant sites, three of which were previously unreported. Variant types included three nonsense mutations, two frameshift mutations, and one missense mutation. Five of the six patients achieved seizure control or marked seizure reduction with valproate treatment, but seizures tended to recur after drug withdrawal. Among them, three patients achieved seizure freedom after combination therapy with levetiracetam, and two patients with drug-resistant epilepsy achieved seizure control after the addition of clobazam.ConclusionsMyoclonic seizures, absence seizures, and eyelid myoclonia are common in SYNGAP1-related epilepsy. Valproate is generally effective, but combination therapy is often required. Neurodevelopmental impairment shows limited improvement despite seizure control.

Infants born Small-for-gestational-age (SGA) face heightened risks for cognitive and language impairments. The neurobiological mechanisms underlying these deficits remain unclear. This study aimed to identify multimodal neuroimaging biomarkers associated with fetal growth restriction and to characterize network-level associations linking SGA to early neurodevelopmental vulnerability using a data-driven graph-based framework. In this prospective cohort of 186 preterm infants, near-term brain magnetic resonance imaging (MRI) and Bayley-III developmental assessments were analyzed. Multimodal imaging features-including volumetric indices from T2-weighted MRI and diffusion metrics from diffusion tensor imaging-were integrated with perinatal data. A sparse partial-correlation network was estimated using the Graphical Lasso algorithm (λ optimized via cross-validation) to infer conditional dependencies among features. Variables directly connected to birthweight Z-scores were identified as candidate biomarkers and validated for SGA classification and developmental outcomes using logistic regression and correlation analyses. Network analysis identified eight neuroanatomical correlates of birthweight Z-scores, including increased cerebrospinal fluid (CSF) volume; elevated axial, mean, and radial diffusivity in the left inferior longitudinal fasciculus (ILFL); higher axial diffusivity in the inferior fronto-occipital fasciculus; and altered degree centrality in the right precentral and posterior cingulate cortices (PCC). Logistic regression revealed CSF volume and ILFL diffusivity as independent predictors of SGA. Infants with language delay showed trend-level increases in ILFL diffusivity and reduced PCC centrality after FDR correction, suggesting possible associations between microstructural and connectomic alterations and language vulnerability. By integrating volumetric and diffusion MRI with graph-based modeling, this study uncovers latent neurobiological markers of SGA and provides clinically interpretable biomarkers for early risk stratification and individualized intervention.