We present a family case study of Phelan–McDermid syndrome (PMS), a neurodevelopmental disorder caused by haploinsufficiency of the SHANK3 gene, in which two of three siblings were clinically diagnosed with PMS. Sanger sequencing identified a novel heterozygous deletion in exon 20 of SHANK3 (c.3679del, p.Ala1227Profs*168), predicted to introduce a premature stop codon and truncate the protein; this variant was absent in the unaffected sibling. Auditory steady-state responses (ASSRs) were recorded at 16, 27, and 40 Hz. The 40 Hz ASSR was markedly reduced in both affected siblings, reaching statistical significance in the younger child and remaining non-significant in the older sibling, while it was preserved in the unaffected sibling. These findings suggest that the 40 Hz ASSR is particularly sensitive to SHANK3-related cortical inhibitory dysfunction during childhood and adolescence, with reduced sensitivity in early adulthood. The results highlight the potential of the 40 Hz ASSR as an electrophysiological biomarker in PMS and underscore the need for age-stratified normative control datasets to enable robust individual-level interpretation and support its use in biomarker development, clinical trial stratification, and monitoring of treatment response.

This article delves into the genetic underpinnings of anxiety, indicating that both state and trait anxiety have heritable components. However, there is no consensus on the degree of heritability, and much remains to be understood about the specific genetic variants involved and their mechanisms of action. The study explores the role of the BDNF gene, which is involved in the synthesis and transportation of brain-derived neurotrophic factor protein, and the AMPD1 gene, which facilitates the conversion of inosine monophosphate to adenosine monophosphate, the intracellular precursor for adenosine in the pathophysiology of anxiety. The methodology of this study involved a combination of genetic testing, psychological assessments, and statistical analysis. Participants were recruited from diverse demographic groups to ensure the findings were broadly applicable. DNA samples were collected for genetic testing, and participants completed the STAI questionnaire to measure their state and trait anxiety levels. The genetic data were analyzed to identify associations between variants in the BDNF and AMPD1 genes and levels of anxiety; specifically, the frequency of these variants in participants with high anxiety scores was compared to those with low anxiety scores. The study provided evidence of the association between BDNF variants and levels of trait anxiety and AMPD1 variants with levels of state anxiety, implicating different biological mechanisms underlying these components of anxiety.

It is believed that bilingualism contributes to the enhancement of executive functions in bilingual individuals as they need to constantly control the simultaneous activation of two or more languages in their brains. However, decades of research have led to contradictory conclusions regarding the existence of bilingual advantage. One of the promising approaches to resolving these contradictions is a more detailed examination of bilingual language experience. The aim of this study was twofold. First is to empirically test the language entropy method as a way of measuring variability in bilingual language use in different interaction contexts. Second is to examine the relationship between bilinguals’ language entropy and executive functions (cognitive flexibility, goal maintenance, conflict monitoring). The study involved 111 bilinguals (mean age = 20.5 (2.97); 75.7% female), who are speakers of Adyghe-Russian and Tatar-Russian languages. The battery of instruments included a questionnaire on demographic and language experience, containing questions to calculate language entropy in four contexts (home, university, work, free time), a Color-shape switching task to measure executive functions (domains of cognitive flexibility, goal updating, conflict monitoring), and Cattell Culture Fair Intelligence Test to assess nonverbal intelligence. The results demonstrated that language entropy of the bilinguals from both regions did not exceed a score of 0.66 in all the contexts which indicates the use of predominantly one language in everyday communications. However, in the “university” context, bilinguals speaking Tatar and Russian used languages in a more balanced way than bilinguals speaking Adyghe and Russian languages. The results suggest that the language entropy method can be highly effective for characterizing bilingual language experience. The results also showed that there was no relationship between language entropy of the bilinguals in this study and their executive functions (domains of cognitive flexibility, goal updating, conflict monitoring). This is consistent with the predictions of the Adaptive Control Hypothesis.

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition marked by heterogeneity in presentation. In recent decades, ASD prevalence has risen globally, yet data from non-Western and middle-income countries, including Russia, remain scarce. Official statistics report a prevalence of 0.41 per 1000 (0.041%), far below global estimates of 32.2 per 1000 (3.2%), indicating underdiagnosis. This study provides the first population-based estimate of ASD prevalence among Russian elementary school children and examines barriers to diagnosis and treatment. The study followed a two-phase epidemiological approach. ASD identification used standardized instruments (SCQ, ADOS-2, ADI-R). The target population included all students in grades 1–3 (n = 34 847), stratified into mainstream, special education, and resource classes. ASD prevalence was estimated using Bayesian regression correcting for screening misclassification. The estimated ASD prevalence was 22.2 per 1000 children (95% CIs: 18.6–36.0), substantially exceeding what is reported based on the RF administrative data. The diagnostic phase had a 25.6% participation rate. ASD was more frequently identified in students from special education and resource classes than in general education settings. A Bayesian sensitivity analysis confirmed the robustness of prevalence estimates across plausible values for sensitivity and specificity. These findings suggest that ASD prevalence in Russia is considerably underestimated via administrative data. Systemic barriers—including limited access to diagnostic services and stigma surrounding psychiatric labels—may hinder ASD identification. Addressing these challenges is essential for improving early detection and service provision in Russia and similar contexts.

Согласно гипотезе билингвального преимущества опыт использования двух и более языков приводит к более эффективной работе исполнительных функций. Однако систематические обзоры и мета-анализы последних лет указывают на неоднородность существующих результатов. Считается, что одной из причин подобной неоднородности являются задания, используемые для измерения исполнительных функций. В данной работе описывается опыт применения технологии виртуальной реальности (VR) как инструмента, позволяющего измерять исполнительные функции в условиях, приближенных к экологически валидным. Выборка исследования состояла из 114 билингвов (24,6% – мужчины) в возрасте от 18 до 33 лет (M = 20,40; SD = 2,94), говорящих на адыгейском (N = 48) и татарском языках (N = 66) в дополнение к русскому. Компоненты исполнительных функций, а именно: когнитивная гибкость, рабочая память и планирование, измерялись с помощью тестовой системы «Ice Cream» (Nesplora) в виртуальной реальности. Для оценки билингвального языкового опыта был применен метод языковой энтропии. Данное исследование является одним из первых, демонстрирующих возможность применения VR-инструментов для оценки исполнительных функций билингвов в условиях, приближенных к естественным. Ввиду новизны инструмента необходимо продолжить исследования с его применением для определения его валидности и надежности.

Objectives/Background: Aarskog–Scott syndrome (AAS), also known as faciogenital dysplasia, is a rare X-linked genetic disorder primarily characterized by its diverse physical manifestations. Previous evidence suggests a potential association between AAS and neurodevelopmental disorders, including autism spectrum disorder (ASD). Methods: This case study presents a male adolescent with ASD and a novel genetic variant in FGD1 underlying AAS. We conducted comprehensive clinical, genetic, and behavioral assessments to characterize the neurodevelopmental presentation. Moreover, we examined the existing literature on AAS and comorbid neurodevelopmental disorders. Results: The patient demonstrated features consistent with both AAS and ASD, presenting with characteristic physical features of AAS and meeting diagnostic criteria for ASD on both ADI-R and ADOS-2. Cognitive assessment revealed above-average nonverbal IQ (Leiter-3, NVIQ = 115), while adaptive functioning was notably impaired (Vineland composite score = 65). Executive function deficits were identified through several assessments, though ADHD diagnostic criteria were not met. The literature review considered 64 studies, including 151 individuals with AAS. ASD was observed in 4.0%, Attention Deficit/Hyperactivity Disorder (ADHD) in 10.6%, and Intellectual Disability (ID) in 14.2% of cases. Conclusions: The combination of ASD with preserved nonverbal intelligence but impaired adaptive functioning in this AAS case demonstrates the complex neurodevelopmental manifestations possible in this rare genetic condition. The prevalence of neurodevelopmental disorders among people with AAS may be higher than their prevalence in the general population. However, a comprehensive assessment of developmental progress was rarely performed in previous studies, which may lead to systematic underestimation of co-occurring neurodevelopmental difficulties in AAS.