Potocki–Lupski Syndrome (PTLS) is a rare condition associated with a duplication of 17p11.2 that may underlie a wide range of congenital abnormalities and heterogeneous behavioral phenotypes. Along with developmental delay and intellectual disability, autism-specific traits are often reported to be the most common among patients with PTLS. To contribute to the discussion of the role of autism spectrum disorder (ASD) in the PTLS phenotype, we present a case of a female adolescent with a de novo dup(17) (p11.2p11.2) without ASD features, focusing on in-depth clinical, behavioral, and electrophysiological (EEG) evaluations. Among EEG features, we found the atypical peak–slow wave patterns and a unique saw-like sharp wave of 13 Hz that was not previously described in any other patient. The power spectral density of the resting state EEG was typical in our patient with only the values of non-linear EEG dynamics: Hjorth complexity and fractal dimension were drastically attenuated compared with the patient’s neurotypical peers. Here we also summarize results from previously published reports of PTLS that point to the approximately 21% occurrence of ASD in PTLS that might be biased, taking into account methodological limitations. More consistent among PTLS patients were intellectual disability and speech and language disorders.

The article presents an overview of the current understanding of the intellectual development of children and adults with autism spectrum disorder (ASD). A review of research indicates a wide heterogeneity in the levels of intellectual development in autism (from severe intellectual disability to giftedness) and demonstrates a lack of specific cognitive and intellectual profiles. The assessment of "strengths" and "weaknesses" of individual cognitive abilities and/or subtests of the measures comes to the fore. At the same time, the incidence of ASD and intellectual disability is higher than in the general population (33% to 70% in the studies reported in this article), indicating that these conditions are comorbid. These rates vary according to the methodological design of the studies, especially the type of data used (administrative, medical, educational, etc.) and the instruments used to assess intellectual ability. For example, Wechsler tests may underestimate scores in children and adults with ASD because of the large number of verbal instructions that are difficult for people with severe communication difficulties. Comprehensive nonverbal intelligence tests (e.g., Leiter-3 or UNIT-2) are the most appropriate methods. Assessing the level of intellectual ability in people with autism spectrum disorders in Russia is complicated by the existing deficit of methods, the elimination of which is an important task that researchers face.

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.

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.

Potocki-Lupski Syndrome (PTLS) is a rare condition associated with a duplication of 17p11.2 that may underlie a wide range of congenital abnormalities and heterogeneous behavioral phenotypes. Along with developmental delay and intellectual disability, autism-specific traits are often reported to be the most common among patients with PTLS. To contribute to the discussion of the role of autism spectrum disorder (ASD) in the PTLS phenotype, we present a case of a female adolescent with a de novo dup(17)(p11.2p11.2) without ASD features, focusing on in-depth clinical, behavioral, and electrophysiological (EEG) evaluations. Among EEG features, we found the atypical peak-slow wave patterns and a unique saw-like sharp wave of 13 Hz that was not previously described in any other patient. The power spectral density of the resting state EEG was typical in our patient with only the values of non-linear EEG dynamics: Hjorth complexity and Fractal dimension were drastically attenuated compared with the patient’s neurotypical peers. Here we also summarize results from previously published reports of PTLS that point to the about 21% occurrence of ASD in PTLS that might be biased, taking into account methodological limitations. More consistent among PTLS patients were intellectual disability and speech and language disorders.