Neurotypical Controls Research Articles

Symptom Severity and Health Impacts of Functional Tic-Like Behaviors in Youth

BackgroundWe performed this study to improve understanding of the relationship between functional tic-like behaviors (FTLBs) and quality of life, loneliness, family functioning, anxiety, depression, and suicidality. MethodThis cross-sectional study assessed self-reported quality of life, disability, loneliness, depression, anxiety, family functioning, tic severity, and suicide risk in age- and birth-sex matched youth with FTLBs, Tourette syndrome (TS), and neurotypical controls. We performed specific subanalyses comparing individuals with FTLBs who identified as transgender/gender diverse (TGD) with cisgender individuals. ResultsEighty-two youth participated (age range 11 to 25, 90% female at birth), including 35 with FTLBs, 22 with TS, and 25 neurotypical controls. A significantly higher proportion of participants with FTLB identified as TGD (15 of 35) than TS (two of 22) and neurotypical control (three of 25) participants. Compared with neurotypical controls, individuals with FTLBs had significantly lower quality of life, greater disability, loneliness, social phobia, anxiety symptoms, depressive symptoms, and suicidality. Compared with individuals with TS, individuals with FTLBs had more school/work absences due to tics, had more depressive symptoms, were more likely to be at high risk for suicidality, and had disability in self-care and life activity domains. There were no significant differences between cisgender and TGD participants with FTLB in any of the domains assessed. ConclusionsYouth with FTLB have unique health care needs and associations with anxiety, depression, sex, and gender.

Subcortical-cortical white matter connectivity in adults with autism spectrum disorder and schizophrenia patients

Autism spectrum disorder (ASD) and schizophrenia (SZ) are neuropsychiatric disorders that overlap in symptoms associated with social-cognitive impairment. Alterations of the cingulate cortex, subcortical, medial-temporal, and orbitofrontal structures are frequently reported in both disorders. In this study, we examined white-matter connectivity between these structures in adults with ASD and SZ patients compared with their respective neurotypical controls and indirectly with each other, using probabilistic and local DTI tractography. This exploratory study utilized publicly available neuroimaging databases, of adults with ASD (ABIDE II; n = 28) and SZ (COBRE; n = 38), age-gender matched neurotypicals (NT) and associated phenotypic data. Tractography was performed using Freesurfer and MRtrix software, and diffusion metrics of white-matter tracts between cingulate-, orbitofrontal- cortices, subcortical structures, parahippocampal, entorhinal cortex were assessed. In ASD, atypical diffusivity parameters were found in the isthmus cingulate and parahippocampal connectivity to subcortical and rostral-anterior cingulate, which were also associated with IQ and social skills (SRS). In contrast, atypical diffusivity parameters were observed between the medial-orbitofrontal cortex and subcortical structures in SZ, and were associated with executive function (i.e., IQ, processing speed) and emotional regulation. Overall, the results suggest that defects in the isthmus cingulate, medial-orbitofrontal, and striato-limbic white matter connectivity may help unravel the neural underpinnings of executive and social-emotional dysfunction at the core of neuropsychiatric disorders.

Ventromedial Prefrontal Cortex Does Not Play a Selective Role in Pattern Separation.

Humans have the capacity to form new memories of events that are, at times, highly similar to events experienced in the past, as well as the capacity to integrate and associate new information within existing knowledge structures. The former process relies on mnemonic discrimination and is believed to depend on hippocampal pattern separation, whereas the latter is believed to depend on generalization signals and conceptual categorization supported by the neocortex. Here, we examine whether and how the ventromedial prefrontal cortex (vMPFC) supports discrimination and generalization on a widely used task that was primarily designed to tax hippocampal processes. Ten individuals with lesions to the vMPFC and 46 neurotypical control participants were administered an adapted version of the mnemonic similarity task [Stark, S. M., Yassa, M. A., Lacy, J. W., & Stark, C. E. L. A task to assess behavioral pattern separation (BPS) in humans: Data from healthy aging and mild cognitive impairment. Neuropsychologia, 51, 2442-2449, 2013], which assesses the ability to distinguish previously learned images of everyday objects (targets) from unstudied, highly similar images (lures) and dissimilar images (foils). Relative to controls, vMPFC-lesioned individuals showed intact discrimination of lures from targets but a propensity to mistake studied targets and similar lures for dissimilar foils. This pattern was accompanied by inflated confidence despite low accuracy when responding to similar lures. These findings demonstrate a more general role of the vMPFC in memory retrieval, rather than a specific role in supporting pattern separation.

Goal conceptualization has distinct effects on spatial and temporal bimanual coordination after left- and right- hemisphere stroke

Perception of task goal influences motor performance and coordination. In bimanual actions, it is unclear how one's perception of task goals influences bimanual coordination and performance in individuals with unilateral stroke. We characterized inter-limb coordination differences in individuals with chronic right- and left-hemisphere damaged (RCVA: n = 24, LCVA: n = 24) stroke and age-matched neurotypical controls (n = 24) as they completed bimanual reaching tasks under distinct goal conditions. In the dual-goal condition, participants reached to move two virtual bricks (cursors) assigned to each hand toward independent targets. In the common-goal condition, they moved a central common virtual brick representing both hands to a single, central target. Spatial and temporal coordination (cross-correlation coefficients of hand velocity and their time-lag), the redundant axis deviations (the hand deviations in the axis orthogonal to the axis along the cursor-target direction), and the contribution ratio of the paretic hand were measured. Compared to the dual-goal condition, reaching actions to the common-goal demonstrated better spatial bimanual coordination in all three participant groups. Temporal coordination was better during common-goal than dual-goal actions only for the LCVA group. Additionally, and novel to this field, sex, as a biological variable, differently influenced movement time and redundant axis deviation in participants with stroke under the common-goal condition. Specifically, female stroke survivors showed larger movements in the redundant axes and, consequently, longer movement times, which was more prominent in the LCVA group. Our results indicate that perception of task goals influences bimanual coordination, with common goal improving spatial coordination in neurotypical individuals and individuals with unilateral stroke and providing additional advantage for temporal coordination in those with LCVA. Sex influences bimanual performance in stroke survivors and needs to be considered in future investigations.

Gut microbiome and serum amino acid metabolome alterations in autism spectrum disorder

Gut microbiota and their metabolic products might play important roles in regulating the pathogenesis of autism spectrum disorder (ASD). The purpose of this study was to characterize gut microbiota and serum amino acid metabolome profiles in children with ASD. A non-randomized controlled study was carried out to analyze the alterations in the intestinal microbiota and their metabolites in patients with ASD (n = 30) compared with neurotypical controls (NC) (n = 30) by metagenomic sequencing to define the gut microbiota community and liquid chromatography/mass spectrometry (LC/MS) analysis to characterize the metabolite profiles. Compared with children in the NC group, those in the ASD group showed lower richness, higher evenness, and an altered microbial community structure. At the class level, Deinococci and Holophagae were significantly lower in children with ASD compared with TD. At the phylum level, Deinococcus-Thermus was significantly lower in children with ASD compared with TD. In addition, the functional properties (such as galactose metabolism) displayed significant differences between the ASD and NC groups. Five dominant altered species were identified and analyzed (LDA score > 2.0, P < 0.05), including Subdoligranulum, Faecalibacterium_praushitzii, Faecalibacterium, Veillonellaceae, and Rumminococcaceae. The peptides/nickel transport system was the main metabolic pathway involved in the differential species in the ASD group. Decreased ornithine levels and elevated valine levels may increase the risk of ASD through a metabolic pathway known as the nickel transport system. The microbial metabolism in diverse environments was negatively correlated with phascolarctobacterium succinatutens. Our study provides novel insights into compositional and functional alterations in the gut microbiome and metabolite profiles in ASD and the underlying mechanisms between metabolite and ASD.

Autistic individuals have worse oral status than neurotypical controls: a systematic review and meta-analysis of observational studies.

To compare dental caries, oral hygiene, periodontal status, bruxism, malocclusion, tooth loss, and salivary alterations between autistic and typical developing individuals. Observational studies presenting clinical measures of oral outcomes between autism spectrum disorder (ASD) individuals and controls. EMBASE, LILACS, PubMed, PsycINFO, Scopus, Web of Science, Google Scholar, and ProQuest were searched up to June 26, 2023. Pairs of reviewers independently conducted study selection, data extraction, and assessments of methodological quality and certainty of evidence. Meta-analyses of standardized mean differences (SMD) and risk ratio (RR) were performed. A total of 47 studies comprising 6885 autistic individuals were included in the review. Autistic individuals had significantly higher severity of dental-caries experience in primary teeth (SMD 0.29, 95%CI 0.02, 0.56), of dental plaque presence (SMD 0.59, 95%CI 0.24, 0.94), and of gingivitis (SMD 0.45, 95%CI 0.02, 0.88). Autistic individuals showed higher probability of occurrence of gingivitis (RR 1.34, 95%CI 1.08, 1.66,), bruxism (RR 4.23, 95%CI 2.32, 7.74), overjet (RR 2.16, 95%CI 1.28, 3.64), overbite (RR 1.62, 95%CI 1.02, 2.59), crossbite (RR 1.48, 95%CI 1.02, 2.13), and openbite (RR 2.37, 95%CI 1.46, 3.85), when compared to neurotypical individuals. Most estimates showed a small effect size with very low certainty of evidence. Autistic individuals show worse oral health status than controls. The findings reported herein can help to build health policies to better serve autistic individuals including prevention actions and access to specialized dental care.

Structural connectome alterations between individuals with autism and neurotypical controls using feature representation learning

Autism spectrum disorder is one of the most common neurodevelopmental conditions associated with sensory and social communication impairments. Previous neuroimaging studies reported that atypical nodal- or network-level functional brain organization in individuals with autism was associated with autistic behaviors. Although dimensionality reduction techniques have the potential to uncover new biomarkers, the analysis of whole-brain structural connectome abnormalities in a low-dimensional latent space is underinvestigated. In this study, we utilized autoencoder-based feature representation learning for diffusion magnetic resonance imaging-based structural connectivity in 80 individuals with autism and 61 neurotypical controls that passed strict quality controls. We generated low-dimensional latent features using the autoencoder model for each group and adopted an integrated gradient approach to assess the contribution of the input data for predicting latent features during the encoding process. Subsequently, we compared the integrated gradient values between individuals with autism and neurotypical controls and observed differences within the transmodal regions and between the sensory and limbic systems. Finally, we identified significant associations between integrated gradient values and communication abilities in individuals with autism. Our findings provide insights into the whole-brain structural connectome in autism and may help identify potential biomarkers for autistic connectopathy.

Discourse Task Type-Specific Linguistic Characteristics in Anomic Aphasia and Healthy Controls: Evidence From Mandarin-Chinese AphasiaBank.

This study was designed to examine the hypothesis that discourse task types influence language performance in Mandarin Chinese-speaking people and to reveal the discourse task-specific linguistic properties of persons with anomic aphasia compared to neurotypical controls. Language samples from persons with aphasia (n = 31) and age- and education-matched controls (n = 31) across four discourse tasks (sequential-picture description, single-picture description, story narrative, and procedural discourse) were collected from Mandarin AphasiaBank. Task-specific distributions of parts of speech were analyzed using mosaic plots. The main effects of tasks in each group and the between-group differences within each task for several typical linguistic variables were evaluated, including the mean length of utterance, tokens, moving-average type-token ratio, words per minute, propositional density, noun-verb ratio, noun percentage, and verb percentage. The results revealed an impact of discourse tasks on most language variables in both groups. In the healthy controls, story narratives yielded the highest total words and lowest verb percentage. In the aphasia group, procedural discourse elicited the fewest total words and densest expressions, whereas their single-picture descriptions had the highest noun-verb ratio. For all tasks, the aphasia group performed worse than the control group in the mean length of utterance, tokens, moving-average type-token ratio, and words per minute. For noun-verb ratio, noun percentage, and verb percentage, only one task (i.e., single-picture description) showed significant between-group differences. The selection of discourse tasks should be addressed in assessments and interventions for Mandarin Chinese-speaking individuals with aphasia to obtain more accurate and feasible outcomes.

Similar Gap-Overlap Profiles in Children with Fragile X Syndrome and IQ-Matched Autism.

Fragile X syndrome (FXS) is a single-gene disorder characterized by moderate to severe cognitive impairment and a high association with autism spectrum disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD). Atypical visual attention is a feature of FXS, ASD, and ADHD. Thus, studying early attentional patterns in young children with FXS can offer insight into early emerging neurocognitive processes underlying challenges and contribute to our understanding of common and unique features of ASD and ADHD in FXS. The present study examined visual attention indexed by the gap-overlap paradigm in children with FXS (n = 39) compared to children with ASD matched on intellectual ability and age (n = 40) and age-matched neurotypical controls (n = 34). The relationship between gap-overlap performance and intellectual ability, ASD, and ADHD across groups was characterized. Saccadic reaction times (RT) were collected across baseline, gap, and overlap conditions. Results indicate no group differences in RT for any conditions. However, RT of the ASD and NT groups became slower throughout the experiment whereas RT of the FXS group did not change, suggesting difficulties in habituation for the FXS group. There was no relationship between RT and intellectual ability, ADHD, or ASD symptoms in the FXS and ASD groups. In the NT group, slower RT was related to elevated ADHD symptoms only. Taken together, findings suggest that the social attention differences documented in FXS and ASD may be due to other cognitive factors, such as reward or motivation, rather than oculomotor control of visual attention.

Patterns of performance on the animal fluency task in logopenic variant of primary progressive aphasia: A reflection of phonological and semantic skills

PurposeThis study aimed to characterize the quantitative (total number of correct words generated) and qualitative (psycholinguistic properties of correct words generated) performance patterns on the animal fluency task in individuals with the logopenic variant of primary progressive aphasia and to investigate the influence of phonological and semantic abilities to these patterns. MethodsFifteen participants with lvPPA and twenty neurotypical adults completed the animal fluency task and an assessment battery to characterize their phonological and semantic abilities. We recorded the total number of correct words produced and their psycholinguistic properties. Group differences were analyzed using independent samples t-tests and analysis of covariance. Stepwise and multiple linear regression analyses were implemented to investigate the contribution of psycholinguistic properties on word generation as well as the role of phonological and semantic abilities on performance. We also investigated the mediating role of phonological and semantic abilities on the relationship between relevant psycholinguistic properties and word generation output. ResultsCompared to neurotypical controls, participants with lvPPA produced fewer correct responses and more words with lower age of acquisition. The total number of correct words generated was predicted by the age of word acquisition, such that individuals who generated more responses, produced words acquired later in life. Phonology and semantics influenced the number of correct words generated and their frequency, age of acquisition, and semantic neighborhood density. Familiarity and arousal were driven by semantic abilities. Phonological abilities partially mediated the relationship between age of acquisition and word generation output. ConclusionsThis study provides valuable insights into the performance patterns of the animal fluency task in lvPPA. Individuals with lvPPA with more intact phonological and semantic abilities generated greater number of words with more complex psycholinguistic properties. Our findings contribute to the understanding of language processes underlying word retrieval in lvPPA.

Connected Language Performance in Neurotypical and Persons with Aphasia: Use of the Brazilian-Portuguese Story Retell Procedure

Introduction: It is important to analyze the micro- and macrostructure of connected language production across languages in neurotypical and impaired speakers such as people with aphasia (PWA). However, the validity, reliability, sensitivity, or specificity of the available Brazilian-Portuguese connected language production batteries remains untested. Objective: The purpose of this study was to provide a preliminary assessment of the translated Brazilian-Portuguese Story Retell Procedure (SRP-BP) in PWA and neurotypical control participants (NCPs) and investigate whether the SRP can serve as a measure of overall communication impairment in PWA. Methods: This cross-sectional study was developed at the Federal University of São Paulo. Seven right-handed PWA and 14 NCPs were recruited. PWA had a single left-hemisphere post-stroke lesion and were without severe aphasia or non-fluent aphasia that might interfere with performing the SRP. The connected language measures calculated from the SRP-BP were the numbers of words, information units, and propositions produced. The data were analyzed with the non-parametric Mann-Whitney test. Results: The NCPs produced significantly more information units and propositions in each of the 12 SRP-BP stories than the PWA group. The same group results were found for the number of words for 11 of the 12 stories, with no statistically significant difference between groups for the Água (Water) story. Conclusion: The SRP-BP distinguished the connected language production of PWA from that of NCPs. These results motivate additional psychometric assessment and test development of the SRP-BP in neurotypical, PWA, and other language and cognitively impaired populations.

Susceptibility to geometrical visual illusions in Parkinson's disorder.

Parkinson's disorder (PD) is a common neurodegenerative disorder affecting approximately 1-3% of the population aged 60 years and older. In addition to motor difficulties, PD is also marked by visual disturbances, including depth perception, abnormalities in basal ganglia functioning, and dopamine deficiency. Reduced ability to perceive depth has been linked to an increased risk of falling in this population. The purpose of this paper was to determine whether disturbances in PD patients' visual processing manifest through atypical performance on visual illusion (VI) tasks. This insight will advance understanding of high-level perception in PD, as well as indicate the role of dopamine deficiency and basal ganglia pathophysiology in VIs susceptibility. Groups of 28 PD patients (Mage = 63.46, SD = 7.55) and 28 neurotypical controls (Mage = 63.18, SD = 9.39) matched on age, general cognitive abilities (memory, numeracy, attention, language), and mood responded to Ebbinghaus, Ponzo, and Müller-Lyer illusions in a computer-based task. Our results revealed no reliable differences in VI susceptibility between PD and neurotypical groups. In the early- to mid-stage of PD, abnormalities of the basal ganglia and dopamine deficiency are unlikely to be involved in top-down processing or depth perception, which are both thought to be related to VI susceptibility. Furthermore, depth-related issues experienced by PD patients (e.g., increased risk for falling) may not be subserved by the same cognitive mechanisms as VIs. Further research is needed to investigate if more explicit presentations of illusory depth are affected in PD, which might help to understand the depth processing deficits in PD.

Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN)

BackgroundWe interrogated auditory sensory memory capabilities in individuals with CLN3 disease (juvenile neuronal ceroid lipofuscinosis), specifically for the feature of “duration” processing. Given decrements in auditory processing abilities associated with later-stage CLN3 disease, we hypothesized that the duration-evoked mismatch negativity (MMN) of the event related potential (ERP) would be a marker of progressively atypical cortical processing in this population, with potential applicability as a brain-based biomarker in clinical trials.MethodsWe employed three stimulation rates (fast: 450 ms, medium: 900 ms, slow: 1800 ms), allowing for assessment of the sustainability of the auditory sensory memory trace. The robustness of MMN directly relates to the rate at which the regularly occurring stimulus stream is presented. As presentation rate slows, robustness of the sensory memory trace diminishes. By manipulating presentation rate, the strength of the sensory memory trace is parametrically varied, providing greater sensitivity to detect auditory cortical dysfunction. A secondary hypothesis was that duration-evoked MMN abnormalities in CLN3 disease would be more severe at slower presentation rates, resulting from greater demand on the sensory memory system.ResultsData from individuals with CLN3 disease (N = 21; range 6–28 years of age) showed robust MMN responses (i.e., intact auditory sensory memory processes) at the medium stimulation rate. However, at the fastest rate, MMN was significantly reduced, and at the slowest rate, MMN was not detectable in CLN3 disease relative to neurotypical controls (N = 41; ages 6–26 years).ConclusionsResults reveal emerging insufficiencies in this critical auditory perceptual system in individuals with CLN3 disease.

A diffusion tensor imaging comparison of white matter development in nonsyndromic craniosynostosis to neurotypical infants.

Nonsyndromic craniosynostosis (NSC) is associated with neurocognitive deficits, and intervention at infancy is standard of care to limit the negative effects of NSC on brain development. In this study, diffusion tensor imaging (DTI) was implemented to investigate white matter microstructure in infants with NSC undergoing cranial vault remodeling, and a comparison was made with white matter development in neurotypical controls. Infants presenting with NSC (n = 12) underwent DTI scans before and after cranial vault remodeling. Neurotypical infants (n = 5), age matched to NSC patients at preoperative scans, were compared to preoperative DTI scans. Pre- and postoperative NSC scans were compared in aggregate, and the sagittal synostosis (n = 8) patients were evaluated separately. Finally, neurotypical infants from the University of North Carolina/University of New Mexico Baby Connectome Project (BCP), who underwent DTI scans at timepoints matching the NSC pre- and postoperative DTI scans, were analyzed (n = 9). Trends over the same time period were compared between NSC and BCP scans. No significant differences were found between preoperative NSC scans and controls. White matter development was more limited in NSC patients than in BCP patients, with microstructural parameters of the corpus body and genu and inferior and superior longitudinal fasciculi consistently lagging behind developmental changes observed in healthy patients. Infant white matter development appears more limited in NSC patients undergoing cranial vault remodeling relative to that in neurotypical controls. Further investigation is needed to explore these differences and the specific effects of early surgical intervention.

Ventral temporal and posteromedial sulcal morphology in autism spectrum disorder

Two parallel research tracks link the morphology of small and shallow indentations, or sulci, of the cerebral cortex with functional features of the cortex and human cognition, respectively. The first track identified a relationship between the mid-fusiform sulcus (MFS) in ventral temporal cortex (VTC) and cognition in individuals with Autism Spectrum Disorder (ASD). The second track identified a new sulcus, the inframarginal sulcus (IFRMS), that serves as a tripartite landmark within the posteromedial cortex (PMC). As VTC and PMC are structurally and functionally different in ASD, here, we integrated these two tracks and tested if there are morphological differences in VTC and PMC sulci in a sample of young (5–17 years old) male participants (50 participants with ASD and 50 neurotypical controls). Our approach replicates and extends recent findings in four ways. First, regarding replication, the standard deviation (STD) of MFS cortical thickness (CT) was increased in ASD. Second, MFS length was shorter in ASD. Third, the CT STD effect extended to other VTC and to PMC sulci. Fourth, additional morphological features of VTC sulci (depth, surface area, gray matter volume) and PMC sulci (mean CT) were decreased in ASD, including putative tertiary sulci, which emerge last in gestation and continue to develop after birth. To our knowledge, this study is the most extensive comparison of the sulcal landscape (including putative tertiary sulci) in multiple cortical expanses between individuals with ASD and NTs based on manually defined sulci at the level of individual hemispheres, providing novel targets for future studies of neurodevelopmental disorders more broadly.

Parent-Report Sleep Disturbances and Everyday Executive Functioning Difficulties in Children with Tourette Syndrome

ABSTRACT There is an increasing need to identify and treat sleep disturbances in Tourette syndrome (TS), a neurodevelopmental condition characterized by tics. This study explored sleep, tics, and executive functioning in children with TS (n=136) and neurotypical controls (n=101) through parent-report scales and open-ended questions. 85% of children with TS scored in the clinical range for a sleep disorder. Higher tic severity predicted increased sleep disturbances and executive difficulties. Qualitative insights indicated a bidirectional link between sleep and tics, which warrants consideration in clinical settings. Further research is needed to explore causal links.

Delayed modulation of alpha band activity increases response inhibition deficits in adolescents with AD(H)D

Deficiencies in inhibitory control are one of the hallmarks of attention-deficit-(hyperactivity) disorder (AD(H)D). Response inhibition demands can become increased through additional conflicts, namely when already integrated representations of perception–action associations have to be updated. Yet, the neural mechanisms of how such conflicts worsen response inhibition in AD(H)D are unknown, but, if identified, could help to better understand the complex nature of AD(H)D-associated impulsivity. We investigated both behavioral performance and EEG activity in the theta and alpha band of adolescents (10–18 years of age) with AD(H)D (n = 28) compared to neurotypical (NT) controls (n = 33) in a conflict-modulated Go/Nogo paradigm. We used multivariate pattern analysis (MVPA) and EEG-beamforming to examine how changes in representational content are coded by oscillatory activity and to delineate the cortical structures involved in it. The presented behavioral and neurophysiological data show that adolescents with AD(H)D are more strongly affected by increased response inhibition demands through additional conflicts than NT controls. Precisely, AD(H)D participants showed higher false alarm rates than NT controls in both, non-overlapping and overlapping Nogo trials, but performed even worse in the latter. This is likely due to an inefficient updating of representations related to delayed modulations of alpha band activity in the ventral stream and orbitofrontal regions. Theta band activity is also modulated by conflict but was not differentially affected in the two groups. By this, the present study provides novel insights into underlying neurophysiological mechanisms of the complex nature of response inhibition deficits in adolescents with AD(H)D, stressing the importance to examine the interplay of theta and alpha band activity more closely to better understand inhibitory control deficits in AD(H)D.

Evaluation of reliability and validity of the Serbian Aphasia Screening Test.

A rise in strokes worldwide means that the number of people affected by aphasia is increasing. Early and accurate diagnosis of aphasia is crucial for recovery. Presently, there are no dedicated screening tests tailored for evaluating aphasia in Serbian-speaking individuals. This paper presents and describes the psychometric properties of the Serbian Aphasia Screening Test (SAST), a novel aphasia screening tool designed specifically for Serbian speakers. This initiative fills the gap in aphasia assessment tools for the Serbian population, providing a comprehensive and culturally sensitive approach to the evaluation of language disorders. Data using the SAST were collected from 240 participants: 120 Serbian speakers with aphasia after stroke compared to 120 neurotypical individuals. The assessment included the following subtests: conversation, verbal automatized sequences, auditory comprehension, visual confrontation naming, responsive naming, repetition of words, repetition of sentences, oral word reading, oral sentence reading, reading comprehension, and writing. The main objectives were to ascertain the psychometric qualities of the SAST, including inter-rater reliability of scoring, test-retest reliability, reliability of the individual subtests, overall test reliability, and inter-correlations among subtests. Additionally, the study evaluated the discriminatory capability of the SAST in distinguishing between individuals with aphasia and neurotypical controls, as well as between individuals with different types of aphasia. The findings revealed that the SAST has excellent inter-rater reliability, test-retest reliability, and internal consistency. There were statistically significant differences between individuals with aphasia and neurotypical controls on all SAST subtests. Furthermore, the study identified significant differences in language profiles among participants with different types of aphasia. The significant correlations between scores on the SAST and on the Boston Diagnostic Aphasia Examination (BDAE) suggest good convergent validity of the SAST. The results underscore the robust psychometric properties of this novel screening assessment (SAST) and its ability to effectively discriminate between diverse linguistic abilities within different aphasia syndromes in Serbian speaking individuals.

High Protein Kinase B (Akt) Concentration in Attention Deficit Hyperactivity Disorder

Attention-deficit hyperactivity disorder (ADHD) is characterized by inattentiveness, hyperactivity, and impulsivity. It has been suggested that the mTOR pathway, which downstream includes activation of Akt, is involved in ADHD. In this study we measured the concentration of phosphorylated Akt in 55 ADD patients and 32 neurotypical controls using an ELISA. We found that Akt levels were significantly higher in the ADD group and may be important to the etiology of ADD/ADHD.

Genomic insights and advanced machine learning: characterizing autism spectrum disorder biomarkers and genetic interactions

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by altered brain connectivity and function. In this study, we employed advanced bioinformatics and explainable AI to analyze gene expression associated with ASD, using data from five GEO datasets. Among 351 neurotypical controls and 358 individuals with autism, we identified 3,339 Differentially Expressed Genes (DEGs) with an adjusted p-value (≤ 0.05). A subsequent meta-analysis pinpointed 342 DEGs (adjusted p-value ≤ 0.001), including 19 upregulated and 10 down-regulated genes across all datasets. Shared genes, pathogenic single nucleotide polymorphisms (SNPs), chromosomal positions, and their impact on biological pathways were examined. We identified potential biomarkers (HOXB3, NR2F2, MAPK8IP3, PIGT, SEMA4D, and SSH1) through text mining, meriting further investigation. Additionally, ‎we shed light on the roles of RPS4Y1 and KDM5D genes in neurogenesis and neurodevelopment. Our analysis detected 1,286 SNPs linked to ASD-related conditions, of which 14 high-risk SNPs were located on chromosomes 10 and X. We highlighted potential missense SNPs associated with FGFR inhibitors, suggesting that it may serve as a promising biomarker for responsiveness to targeted therapies. Our explainable AI model identified the MID2 gene as a potential ASD biomarker. This research unveils vital genes and potential biomarkers, providing a foundation for novel gene discovery in complex diseases.