Search Results (10)

Mirror neurons (MNs), a set of neurons that are activated during the processes of observation and execution of actions, have drawn significant attention in the research of neurodegenerative and psychological disorders. Research in the field of Autism Spectrum Disorder (ASD) and schizophrenia demonstrates evidence in favour of common underlying neural mechanisms underlying the two conditions, especially with respect to mu rhythm suppression, a proxy for MN activation and socio-cognitive impairments. This paper aims to review the most recent studies on the neurological underpinnings of social cognition deficits and cognitive discrepancies shared by ASD and schizophrenia, as detected by measuring the functionality and activation of the mirror neuron system. The findings of the review reveal a lack of consensus with respect to the validity of the “broken mirror” theory. The review also shows that further research is warranted to shed light on the implications of mirror neuron dysfunction in neuropsychiatric conditions and assist the development of technological interventions and treatments. Full article

The present study compared two sentence–picture-matching tests in Greek, namely the Syntactic Proficiency Test and the sentence comprehension subtest of the Diagnostic Verbal Intelligence Quotient (DVIQ) battery, to assess complex sentence comprehension in 29 Greek-speaking children with autism spectrum disorder (ASD). Crucially, the DVIQ test included more foils and visual details than the Syntactic Proficiency Test. The study had three aims: (1) to examine sentence comprehension performance across various syntactically complex structures (passives, clitic pronouns, subject, and object relative clauses) and identify comprehension asymmetries among these types; (2) to investigate task effects on syntactic comprehension accuracy by comparing performance across the two tests; and (3) to examine differences in error types across tasks. Results showed that autistic children were significantly less accurate in their comprehension performance of passives and clitics in the DVIQ compared to the Syntactic Proficiency Test, with no difference in accuracy observed for subject or object relative clauses, which were consistently high and low, respectively, across both tests. Error patterns also differed across the two tests. More specifically, thematic role reversals in passives were more frequent in the DVIQ than the Syntactic Proficiency Test. The overall findings suggest that the DVIQ’s enhanced perceptual complexity may have affected children’s accuracy in their comprehension of passives and clitics, while object relatives were less affected by task effects because of their high structural complexity. The study highlights how visual complexity and foil count can impact syntactic comprehension in autistic children and underscores the importance of task design in assessing syntactic skills in ASD. Full article

Despite the consensus that early identification leads to better outcomes for individuals with autism spectrum disorder (ASD), recent research reveals that the average age of diagnosis in the Greek population is approximately six years. However, this age of diagnosis is delayed by an additional two years for families from lower-income or minority backgrounds. These disparities result in adverse impacts on intervention outcomes, which are further burdened by the often time-consuming and labor-intensive language assessments for children with ASD. There is a crucial need for tools that increase access to early assessment and diagnosis that will be rigorous and objective. The current study leverages the capabilities of artificial intelligence to develop a reliable and practical model for distinguishing children with ASD from typically-developing peers based on their narrative and vocabulary skills. We applied natural language processing-based extraction techniques to automatically acquire language features (narrative and vocabulary skills) from storytelling in 68 children with ASD and 52 typically-developing children, and then trained machine learning models on the children’s combined narrative and expressive vocabulary data to generate behavioral targets that effectively differentiate ASD from typically-developing children. According to the findings, the model could distinguish ASD from typically-developing children, achieving an accuracy of 96%. Specifically, out of the models used, hist gradient boosting and XGBoost showed slightly superior performance compared to the decision trees and gradient boosting models, particularly regarding accuracy and F1 score. These results bode well for the deployment of machine learning technology for children with ASD, especially those with limited access to early identification services. Full article

Though previous studies with autistic individuals have provided behavioral evidence of animacy perception difficulties, the spatio-temporal dynamics of animacy processing in autism remain underexplored. This study investigated how animacy is neurally encoded in autistic adults, and whether potential deficits in animacy processing have cascading deleterious effects on their social functioning skills. We employed a picture naming paradigm that recorded accuracy and response latencies to animate and inanimate pictures in young autistic adults and age- and IQ-matched healthy individuals, while also employing high-density EEG analysis to map the spatio-temporal dynamics of animacy processing. Participants’ social skills were also assessed through a social comprehension task. The autistic adults exhibited lower accuracy than controls on the animate pictures of the task and also exhibited altered brain responses, including larger and smaller N100 amplitudes than controls on inanimate and animate stimuli, respectively. At late stages of processing, there were shorter slow negative wave latencies for the autistic group as compared to controls for the animate trials only. The autistic individuals’ altered brain responses negatively correlated with their social difficulties. The results suggest deficits in brain responses to animacy in the autistic group, which were related to the individuals’ social functioning skills. Full article

Background and objectives: Monoallelic (heterozygous) or biallelic (homozygous or compound heterozygous) TACI mutations have been reported as the most common genetic defects in patients with common variable immunodeficiency (CVID), which is the most common clinically significant primary immunodeficiency in humans. The aim of our study was to evaluate the prevalence and any correlations of TACI defects in Greek patients with primary antibody deficiencies. Materials and Methods: 117 patients (male/female: 53/64) with CVID (110) and a combined IgA and IgG subclass deficiency (7) with a CVID-like clinical phenotype were enrolled in the study. Genomic DNA was extracted from peripheral blood and the molecular analysis of the TACI gene was performed by PCR (Polymerase Chain Reaction) and sequencing of all 5 exons, including exon–intron boundaries. Results: Seventeen patients (14.5%) displayed TACI defects, four (23.5%) carried combined heterozygous mutations and 13 (76.5%) carried single heterozygous mutations. The most frequently detected mutation was C104R (58.8%), followed by I87N (23.5%) and A181E (11.8%), while R20C, C62Y, P151L, K188M and E236X mutations were present in only one patient each. Patients with TACI defects were more frequently male (p = 0.011) and displayed a benign lymphoproliferation (splenomegaly and lymph node enlargement, p = 0.047 and p = 0.002, respectively), had a history of tonsillectomy (p = 0.015) and adenoidectomy (p = 0.031) and more frequently exhibited autoimmune cytopenias (p = 0.046). Conclusions: Considering that accumulating evidence suggests several CVID patients have a complex rather than a monogenic inheritance, our data further support the notion that TACI mutations, particularly as monoallelic defects, should be primarily considered as susceptibility co-factors and/or modifiers of primary antibody deficiencies. Full article

Dementia is a debilitating impairment of cognitive functions that affects millions of people worldwide. There are several diseases belonging to the dementia spectrum, most prominently Alzheimer’s disease (AD), vascular dementia (VD), Lewy body dementia (LBD) and frontotemporal dementia (FTD). Repetitive transcranial magnetic stimulation (rTMS) is a safe, non-invasive form of brain stimulation that utilizes a magnetic coil to generate an electrical field and induce numerous changes in the brain. It is considered efficacious for the treatment of various neuropsychiatric disorders. In this paper, we review the available studies involving rTMS in the treatment of these dementia types. The majority of studies have involved AD and shown beneficial effects, either as a standalone, or as an add-on to standard-of-care pharmacological treatment and cognitive training. The dorsolateral prefrontal cortex seems to hold a central position in the applied protocols, but several parameters still need to be defined. In addition, rTMS has shown potential in mild cognitive impairment as well. Regarding the remaining dementias, research is still at preliminary phases, and large, randomized studies are currently lacking. Full article

An audit based on a specific questionnaire was attempted, in order to investigate the mycology laboratory diagnostic capacity for invasive fungal diseases (IFDs) in Greek Paediatric Haematology-Oncology departments/units. The study provided the relevant information for the years 2019 and 2020 and included data from all units, concerning culture-based methods and direct microscopy, phenotypic and molecular identification, sensitivity testing, serology and molecular diagnosis, as well as therapeutic drug monitoring. The target was mostly to reveal the level of laboratory coverage for hospitalised paediatric patients, independently of the possibility of performing the tests in the host hospital, or otherwise to refer the specimens elsewhere. In total, the current study demonstrated that the most important facilities and services regarding the IFD diagnostics for paediatric haematology-oncology patients in Greece are available and relatively easily accessible, with a reasonable turnaround time. Acting as an initial registry for further improvements, the audit can serve as a valuable approach to the actual situation and future perspectives. A national clinical mycology network under the auspices of the relevant scientific societies will probably facilitate collaboration between all the departments (clinical and laboratory) involved in invasive fungal infections and provide an easier approach to any necessary test for any hospitalised patient. Full article

We are pleased to announce a Special Issue on the Genetic Basis and Epidemiology of Myopathies. This Special Issue is collecting papers pertaining to various lines of research focusing on the genetic basis and the epidemiology of myopathies. The Guest Editors’ note combines the contributing authors’ reviews and findings of relevant research, and we hope that future studies on myopathies will attempt to confirm these findings and, additionally, evaluate supplementary phenotypic and histological expressions of myopathies, as well as genetic factors in their pathogenesis. Full article

Impairments in Theory of Mind (ToM) are a core feature of Autism Spectrum Disorder (ASD). ToM may be enhanced by various factors, including bilingualism, executive functions (EF), and complex syntax. This work investigates the language-cognition interface in ASD by exploring whether ToM can be enhanced by bilingualism, whether such ToM boosts would be due to EF or syntax, and whether routes to mentalizing would differ between bilinguals and monolinguals on the spectrum. Twenty-seven monolingual Greek-speaking and twenty-nine bilingual Albanian-Greek children with ASD were tested on ToM reasoning in verbal and low-verbal ToM tasks, an executive function 2-back task, and a sentence repetition task. Results revealed that bilingual children with ASD performed better than monolinguals with ASD in the low-verbal ToM and the 2-back tasks. In the sentence repetition task, bilinguals scored higher than monolinguals in complex sentences, and specifically in adverbials and relatives. Regarding the relations between ToM, EF, and sentence repetition, the monolingual group’s performance in the verbal ToM tasks was associated with complement syntax, whereas, for the bilingual children with ASD, performance in both verbal and low-verbal ToM tasks was associated with EF and adverbial clause repetition. The overall pattern of results suggests that mentalizing may follow distinct pathways across the two groups. Full article

Myopathies represent a wide spectrum of heterogeneous diseases mainly characterized by the abnormal structure or functioning of skeletal muscle. The current paper provides a comprehensive overview of cognitive deficits observed in various myopathies by consulting the main libraries (Pubmed, Scopus and Google Scholar). This review focuses on the causal classification of myopathies and concomitant cognitive deficits. In most studies, cognitive deficits have been found after clinical observations while lesions were also present in brain imaging. Most studies refer to hereditary myopathies, mainly Duchenne muscular dystrophy (DMD), and myotonic dystrophies (MDs); therefore, most of the overview will focus on these subtypes of myopathies. Most recent bibliographical sources have been preferred. Full article