Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition clinically characterized by social interaction and communication difficulties. To date, the majority of research efforts have focused on brain mechanisms underlying the deficits in interpersonal social cognition associated with ASD. Recent empirical and theoretical work has begun to reveal evidence for a reduced or even absent self-preference effect in patients with ASD. One may hypothesize that this is related to the impaired attentional processing of self-referential stimuli. The aim of our study was to test this hypothesis. We investigated the neural correlates of face and name detection in ASD. Four categories of face/name stimuli were used: own, close-other, famous, and unknown. Event-related potentials were recorded from 62 electrodes in 23 subjects with ASD and 23 matched control subjects. P100, N170, and P300 components were analyzed. The control group clearly showed a significant self-preference effect: higher P300 amplitude to the presentation of own face and own name than to the close-other, famous, and unknown categories, indicating preferential attentional engagement in processing of self-related information. In contrast, detection of both own and close-other's face and name in the ASD group was associated with enhanced P300, suggesting similar attention allocation for self and close-other related information. These findings suggest that attention allocation in the ASD group is modulated by the personal significance factor, and that the self-preference effect is absent if self is compared to close-other. These effects are similar for physical and non-physical aspects of the autistic self. In addition, lateralization of face and name processing is attenuated in ASD, suggesting atypical brain organization.
Autism Diagnostic Observation Schedule (ADOS) is one of the most popular instruments used world-widely in the diagnosis of autism spectrum disorders (ASD). Unfortunately, there are only a few studies of the psychometric properties of non-English language versions of this instrument and none of the adaptation of its second edition (ADOS-2). The objective of this study was to verify the psychometric properties of the Polish version of the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2-PL). The authors recruited 401 participants: 193 with ASDs (ASD group) and 78 with non-spectrum disorders, plus 130 typically developing participants (control group). ADOS-2-PL was found to have high interrater reliability, internal consistency and test–retest reliability. Confirmatory factor analysis confirmed a good fit of the Polish data to the two-factor model of ADOS-2. As no significant differences were found between participants with childhood autism and other ASDs, only one cut-off was established for Modules 1–4. The sensitivity, specificity and positive predictive value of ADOS-2-PL are high: sensitivity was over 90% (only for the “Older with some words” algorithm in the Toddler Module the sensitivity was 71% and “Aged 5 years or older” algorithm in Module 2 sensitivity was 84%), specificity was above 80% (with the exception of the Module 4 and Module 2 “Aged 5 years or older” algorithm where it was above 70%). The results support the use of ADOS-2-PL in clinical practice and scientific research. To the best of our knowledge, there have been no reports to date about adaptations of ADOS-2 and the psychometric properties of non-English language versions. As such, this constitutes the first attempt at adapting ADOS-2, and its results could be of interest for researchers outside of Poland.
Objectives: Dysfunction of the hypothalamic-pituitary-adrenal (HPA) axis leads to impaired stress response. FK506-binding protein 51 (FKBP5), which influences HPA axis activity via glucocorticoid receptors, is supposed to play an important role in the regulation of negative feedback and glucocorticoid resistance. Since ineffective stress response mechanisms are considered as a biological background of suicide behavior, we aimed to analyze a possible association between FKBP5 functional polymorphisms and completed suicide. Methods: The selected FKBP5 polymorphisms rs1360780 and rs3800373 were genotyped in a sample of 563 suicide victims and 475 controls. Results: A significant association between the high-induction rs3800373 C allele and completed suicide was detected (OR = 1.36, p = 0.007). In this polymorphism, genotype distribution supported a codominant model of inheritance. The analyzed SNPs were in strong linkage disequilibrium (D' = 0.916 and r2 = 0.826) with the rs1360780 (T)-rs3800373 (C) haplotype apparently responsible for the observed association (OR = 1.34, p = 0.010). Conclusion: The results of the present study indicate that genetic alterations in FKBP5 may influence vulnerability to suicide.
Backgroundrs6943555 in AUTS2 has been shown to modulate ethanol consumption. We hypothesized that rs6943555 might be associated with completed suicide.MethodsWe genotyped rs6943555 in 625 completed suicides and 3861 controls using real-time TaqMan Allelic Discrimination Assay. All individuals were Polish Caucasians.ResultsWe detected an association between suicide and rs6943555 A allele (OR = 1.17, P = 0.018 for allelic comparison, OR = 1.24, P = 0.013 for dominant, and OR = 1.18, P = 0.020 for co-dominant model of inheritance). The association remained significant after adjusting for age and gender (co-dominant: P = 0.002 and dominant model: P = 0.001). After stratifying suicides according to blood ethanol concentration (BAC≤ 20 mg/dl and BAC > 20 mg/dl) the association remained significant only for cases who committed suicide under influence of alcohol (co-dominant: OR = 1.37, P = 0.004 and dominant model: OR = 1.45, P = 0.006). To validate this finding we genotyped another cohort of 132 cases. We reproduced the association between rs6943555 A allele and suicide under influence of ethanol (allelic comparison: OR = 1.55, P = 0.023; co-dominant : OR = 1.54, P = 0.031; dominant model: OR = 1.84, P = 0.015). Analyzing pooled suicides with BAC >20 mg/dl (N = 300) we found the association of rs6943555 A allele not only vs. controls (allelic OR = 1.41, P = 0.00029) but also vs. cases with BAC ≤ 20 mg/dl (N = 449, allelic OR = 1.33, P = 0.019).ConclusionsIn our study rs6943555 A allele is associated with suicide committed after drinking ethanol shortly before death. The rs6943555 A allele may be linked to adverse emotional reaction to ethanol, which could explain the association with lower consumption in general population as well as the predisposition to suicide under influence of ethanol.
Individuals with autism spectrum disorder (ASD) demonstrate impairments with pragmatic (social) language, including narrative skills and conversational abilities. We aimed to quantitatively characterize narrative performance in ASD using natural language processing techniques: sentiment and language abstraction analyses based on the Linguistic Category Model. Individuals with ASD and with typical development matched for age, gender, ethnicity, and verbal and nonverbal intelligence quotients produced language samples during two standardized tasks from the Autism Diagnostic Observation Schedule, Second Edition assessment: Telling a Story from a Book and Description of a Picture. Only the narratives produced during the Book Task differed between ASD and control groups in terms of emotional polarity and language abstraction. Participants with typical development used words with positive sentiment more often in comparison to individuals with ASD. In the case of words with negative sentiment, the differences were marginally significant (participants with typical development used words with negative sentiment more often). The Book Task narratives of individuals with ASD were also characterized by a lower level of language abstraction than narratives of peers with typical development. Linguistic abstraction was strongly positively correlated with a higher number of words with emotional polarity. Neither linguistic abstraction nor emotional polarity correlated with participants' age or verbal and nonverbal IQ. The results support the promise of sentiment and language abstraction analyses as a useful tool for the quantitative, fully automated assessment of narrative abilities among individuals with ASD.
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