1. [Review of the monographs by I.A. Skvortsov « Illustrated neurology development « ( » MEDpress inform « 2014), » Childhood autism in neurology  » (« MEDpress inform » 2020), « Problems of regeneration in pediatric neurology », methodical recommendations « Problems of regeneration in pediatric neurology »]. Zhurnal nevrologii i psikhiatrii imeni SS Korsakova. 2021; 121(10): 149-50.

A notable phenomenon in the field of medical literature devoted to the brain of the developing child was the work of Professor I.A. Skvortsova, a well-known scientist with more than half a century of experience in teaching and research.

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2. Ali H, Rahman H, Lee LC, Khan NZ, Wu LS, Mehra S, Mitra M, Labrique AB, West KP, Jr., Christian P. Autism spectrum disorder in a rural community in Bangladesh: A mid-childhood assessment. Autism research : official journal of the International Society for Autism Research. 2022; 15(2): 328-39.

Population-based studies employing standardized diagnostics are needed to determine the burden of autism spectrum disorder (ASD) in low-resource settings. A community-based study was conducted among 8-11 year old children in rural, northwestern Bangladesh to establish the prevalence of ASD. A standardized screening and diagnosis protocol was adapted and deployed comprising the social communication questionnaire (SCQ), and the autism diagnostic observation schedule 2, (ADOS-2), and the autism diagnostic interview, revised (ADI-R), respectively. A year-long research training was conducted for a clinical psychologist to be certified to administer ADOS-2 and ADI-R. Over 8000 children were visited at home and administered the SCQ leading to some, based on their score, being further evaluated using the ADOS-2 and ADI-R by the clinical psychologist. Based on ADOS-2 applying the diagnoses of autism or autism spectrum, the prevalence was 40 (95% CI: 27, 54) per 10,000. Autistic disorder using ADI-R was found at 12 (95% CI: 5, 20) per 10,000. Boys were at a higher risk than girls with the rates among boys being 46 (95% CI: 25, 67) using ADOS-2 and 19 (95% CI:6, 33) using ADI-R. Among girls the rates were 34 (95% CI:16, 52) and 5 (95% CI:0, 12) per 10,000, respectively. Challenges to undertaking ASD research in a rural South Asian context are discussed. There was a low-to-moderate prevalence of ASD in a rural, child population in Bangladesh. Future research is needed to estimate rates of ASD and its causes and socioeconomic consequences in rural and urban settings of South Asia. LAY SUMMARY: In a study of over 8000, 8-11 year old children in a rural area of Bangladesh, two to four out of 1000 had ASD. Boys more than girls had ASD. Conducting ASD assessment in this setting was difficult, but more such research is needed to understand what causes ASD and its consequences for the individual, families and the society in rural and urban areas of low-income countries.

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3. Cho KH, Yoon SJ, Lim J, Eun H, Park MS, Park KI, Jo HS, Lee SM. Epidemiology of Macrosomia in Korea: Growth and Development. Journal of Korean medical science. 2021; 36(47): e320.

BACKGROUND: Macrosomia, as an infant with birth weight over 4 kg, can have several perinatal, and neonatal complications. This study aimed to estimate the incidence of macrosomia in Korea and to identify the growth and developmental outcomes and other neonatal complications. METHODS: In total, 397,203 infants who were born in 2013 with birth weight ≥ 2.5 kg and who underwent infant health check-up between their 1(st) and 7(th) visit were included from the National Health Insurance Service database. The information was obtained by the International Classification of Diseases-10 codes or self-reported questionnaires in the National Health Screening Program. RESULTS: The distribution of infants by birth weight was as follows: 384,181 (97%) infants in the 2.5-3.99 kg (reference) group, 12,016 (3%) infants in the 4.0-4.49 kg group, 772 (0.2%) infants in the 4.5-4.99 kg group, and 78 (0.02%) infants in the ≥ 5 kg group. Macrosomia showed significantly higher incidence of sepsis, male sex, and mothers with GDM and birth injury. There was a significant difference in weight, height, and head circumference according to age, birth weight group, and combination of age and birth weight, respectively (P < 0.001). The number of infants with the weight above the 90(th) percentile in macrosomia at each health check-up showed higher incidence than in reference group. The mean body mass index significantly differed among the groups, as 50.6 in infants with 2.5-3.99 kg of birth weight, 63.5 with 4.0-4.49 kg, 71.0 with 4.5-4.99 kg, and 73.1 with ≥ 5 kg. There was a significant difference in the incidence of poor developmental results between infants with macrosomia and the reference group at 24, 36 and 48 month of age. CONCLUSION: Macrosomia was significantly associated with the risk of sepsis, birth injury, obesity and developmental problem especially in a boy born from mothers with gestational diabetes mellitus. Careful monitoring and proper strategies for monitoring growth and development are needed.

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4. Crepeau-Hobson MF, Leech N, Russell C. CLEAR Autism Diagnostic Evaluation (CADE): Evaluation of Reliability and Validity. Journal of developmental and physical disabilities. 2021: 1-17.

Recent surveillance efforts indicate that 1 in 54 American children meet the criteria for Autism Spectrum Disorder (ASD), making it the fastest growing neurodevelopmental disorder in the U.S. Despite evidence that ASD can be reliably diagnosed as early as 24 months, the median age at ASD diagnosis in 2016 in the U.S. was 51 months. The CLEAR Autism Diagnostic Evaluation (CADE; Willard & Kroncke, 2019), was developed in response to the need to improve, shorten, and standardize the clinical ASD evaluation process. The CADE is a 33-item rating scale designed to be completed by caregivers and clinicians. The current study was conducted to examine the reliability and validity of the CADE using a sample of 191 individuals who received a private evaluation for ASD. Using the client’s evaluation records, clinicians completed the CADE items. The coefficient alpha was .94, which indicates that the items form a scale that has high internal consistency. The CADE total scores were highly correlated with ADOS scores, with r values ranging from .52-.86, and discriminated between those participants with a diagnosis of ASD and those without (p < .001). Receiver operator characteristic (ROC) curve analyses indicated excellent diagnostic accuracy of the CADE total score (ROC area under the curve = .998). Results suggest that the CADE can be used as an efficient and accurate means of evaluating ASD. Limitations and implications for use of the CADE are discussed.

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5. Fereshetyan K, Chavushyan V, Danielyan M, Yenkoyan K. Assessment of behavioral, morphological and electrophysiological changes in prenatal and postnatal valproate induced rat models of autism spectrum disorder. Scientific reports. 2021; 11(1): 23471.

Autism spectrum disorders (ASD) are neurodevelopmental disorders, that are characterized by core symptoms, such as alterations of social communication and restrictive or repetitive behavior. The etiology and pathophysiology of disease is still unknown, however, there is a strong interaction between genetic and environmental factors. An intriguing point in autism research is identification the vulnerable time periods of brain development that lack compensatory homeostatic corrections. Valproic acid (VPA) is an antiepileptic drug with a pronounced teratogenic effect associated with a high risk of ASD, and its administration to rats during the gestation is used for autism modeling. It has been hypothesized that valproate induced damage and functional alterations of autism target structures may occur and evolve during early postnatal life. Here, we used prenatal and postnatal administrations of VPA to investigate the main behavioral features which are associated with autism spectrum disorders core symptoms were tested in early juvenile and adult rats. Neuroanatomical lesion of autism target structures and electrophysiological studies in specific neural circuits. Our results showed that prenatal and early postnatal administration of valproate led to the behavioral alterations that were similar to ASD. Postnatally treated group showed tendency to normalize in adulthood. We found pronounced structural changes in the brain target regions of prenatally VPA-treated groups, and an absence of abnormalities in postnatally VPA-treated groups, which confirmed the different severity of VPA across different stages of brain development. The results of this study clearly show time dependent effect of VPA on neurodevelopment, which might be explained by temporal differences of brain regions’ development process. Presumably, postnatal administration of valproate leads to the dysfunction of synaptic networks that is recovered during the lifespan, due to the brain plasticity and compensatory ability of circuit refinement. Therefore, investigations of compensatory homeostatic mechanisms activated after VPA administration and directed to eliminate the defects in postnatal brain, may elucidate strategies to improve the course of disease.

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6. Habata K, Cheong Y, Kamiya T, Shiotsu D, Omori IM, Okazawa H, Jung M, Kosaka H. Relationship between sensory characteristics and cortical thickness/volume in autism spectrum disorders. Translational psychiatry. 2021; 11(1): 616.

Individuals with autism spectrum disorders (ASDs) exhibit atypical sensory characteristics, impaired social skills, deficits in verbal and nonverbal communication, and restricted and repetitive behaviors. The relationship between sensory characteristics and brain morphological changes in ASD remains unclear. In this study, we investigated the association between brain morphological changes and sensory characteristics in individuals with ASD using brain image analysis and a sensory profile test. Forty-three adults with ASD and 84 adults with typical development underwent brain image analysis using FreeSurfer. The brain cortex was divided into 64 regions, and the cortical thickness and volume of the limbic system were calculated. The sensory characteristics of the participants were evaluated using the Adolescent/Adult Sensory Profile (AASP). Correlation analysis was performed for cortical thickness, limbic area volume, and AASP scores. In the ASD group, there was a significant positive correlation between visual sensory sensitivity scores and the right lingual cortical thickness (r = 0.500). There were also significant negative correlations between visual sensation avoiding scores and the right lateral orbitofrontal cortical thickness (r = -0.513), taste/smell sensation avoiding scores and the right hippocampal volume (r = -0.510), and taste/smell sensation avoiding scores and the left hippocampal volume (r = -0.540). The study identified associations among the lingual cortical thickness, lateral orbitofrontal cortical thickness, and hippocampal volume and sensory characteristics. These findings suggest that brain morphological changes may trigger sensory symptoms in adults with ASD.

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7. Hyatt CJ, Wexler BE, Pittman B, Nicholson A, Pearlson GD, Corbera S, Bell MD, Pelphrey K, Calhoun VD, Assaf M. Atypical Dynamic Functional Network Connectivity State Engagement during Social-Emotional Processing in Schizophrenia and Autism. Cerebral cortex (New York, NY : 1991). 2021.

Autism spectrum disorder (ASD) and schizophrenia (SZ) are separate clinical entities but share deficits in social-emotional processing and static neural functional connectivity patterns. We compared patients’ dynamic functional network connectivity (dFNC) state engagement with typically developed (TD) individuals during social-emotional processing after initially characterizing such dynamics in TD. Young adults diagnosed with ASD (n = 42), SZ (n = 41), or TD (n = 55) completed three functional MRI runs, viewing social-emotional videos with happy, sad, or neutral content. We examined dFNC of 53 spatially independent networks extracted using independent component analysis and applied k-means clustering to windowed dFNC matrices, identifying four unique whole-brain dFNC states. TD showed differential engagement (fractional time, mean dwell time) in three states as a function of emotion. During Happy videos, patients spent less time than TD in a happy-associated state and instead spent more time in the most weakly connected state. During Sad videos, only ASD spent more time than TD in a sad-associated state. Additionally, only ASD showed a significant relationship between dFNC measures and alexithymia and social-emotional recognition task scores, potentially indicating different neural processing of emotions in ASD and SZ. Our results highlight the importance of examining temporal whole-brain reconfiguration of FNC, indicating engagement in unique emotion-specific dFNC states.

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8. Polk M, Ikuta T. Disrupted functional connectivity between the nucleus accumbens and posterior cingulate cortex in autism spectrum disorder. Neuroreport. 2022; 33(2): 43-7.

OBJECTIVES: Dysfunctions in the basal ganglia have been repeatedly found in autism spectrum disorder (ASD). The nucleus accumbens (NAcc) is known for its central role in social functions and also in its abnormality in ASD. In this study, whole-brain functional connectivity of the NAcc was examined to isolate brain regions that are differently connected to the NAcc in autism, using resting-state functional MRI (rs-fMRI) data. METHODS: In the initial dataset, 68 individuals with ASD (13.13 ± 2.41 years old) and 77 typically developing individuals (14.79 ± 3.57 years old) were compared. RESULTS: The precuneus cortex, lingual gyrus, thalamus, dorsal striatum, anterior cingulate cortex and posterior cingulate cortex showed weaker connectivity to the NAcc in the group with ASD. Among these regions, dysconnectivity of the posterior cingulate cortex (PCC) was replicated in the replication dataset, with 78 individuals with ASD and 105 without ASD. CONCLUSIONS: This study suggests that the dysconnectivity between the NAcc and PCC may account for social dysfunctions in ASD.

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9. Siani-Rose M, Cox S, Goldstein B, Abrams D, Taylor M, Kurek I. Cannabis-Responsive Biomarkers: A Pharmacometabolomics-Based Application to Evaluate the Impact of Medical Cannabis Treatment on Children with Autism Spectrum Disorder. Cannabis and cannabinoid research. 2021.

Introduction: Autism spectrum disorder (ASD) is a group of neurodevelopmental conditions that impact behavior, communication, social interaction, and learning abilities. Treatment of ASD with medical cannabis (MC) shows promising results in reducing the severity of certain behavioral aspects. The goals of this observational study are to demonstrate the potential of metabolic biomarkers to (1) objectively determine the impact on metabolites of MC treatment and (2) suggest the metabolic pathways of children with ASD, who respond to MC treatment. Materials and Methods: The impact of effective physician-supervised MC treatment on children with ASD (n=15), compared with an age-matched group of typically developing (TD; n=9) children, was evaluated in an observational study design. Each child followed a unique MC regimen determined by their specific response over at least 1 year of treatment, which included the following: tetrahydrocannabinol-dominant MC (dosing range 0.05-50 mg per dose) in 40% of children and cannabidiol-dominant MC (dosing range 7.5-200 mg per dose) in 60% of children. Samples from the ASD group collected pre-MC treatment and at time of maximal impact, and from the TD group, were subjected to salivary metabolomics analysis. Ten minutes before saliva sampling, parents filled out behavioral rating surveys. Results: Sixty-five potential cannabis-responsive biomarkers exhibiting a shift toward the TD physiological levels were identified in children with ASD after MC treatment. For each biomarker, the physiological levels were determined based on the values detected in the TD group. A similar qualitative improvement trend in children with ASD treated with MC was also observed in the behavioral surveys. Twenty-three potential Cannabis-Responsive biomarkers exhibiting change toward TD mean were categorized as anti-inflammatory, bioenergy associated, neurotransmitters, amino acids, and endocannabinoids. The changes in the levels of the Cannabis-Responsive biomarkers N-acetylaspartic acid, spermine, and dehydroisoandrosterone 3-sulfate have been previously linked to behavioral symptoms commonly observed in individuals with ASD. Conclusions: Our results suggest Cannabis-Responsive biomarkers shift toward the TD mean after MC treatment and can potentially quantify benefit at the metabolic level. These changes appear to be similar to the trend described in behavior surveys. Larger trials are needed to confirm these preliminary findings.

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10. Slomski A. Preemptive Treatment Reduced Autism Symptom Severity. Jama. 2021; 326(21): 2120.

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11. Van Keer I, Dhondt A, Van der Putten A, Maes B. Lessons learned: A critical reflection on child- and contextual variables related to the development of children with a significant cognitive and motor developmental delay. Research in developmental disabilities. 2022; 120: 104142.

BACKGROUND: The scientific study of young children with a significant cognitive and motor developmental delay is challenging due to the children’s complex disabilities and high demands on family life and professional support. We aim to critically reflect on the measurement and analysis of child- and contextual variables within an ongoing research project on these children’s developmental trajectories. METHOD: The OJKO-project tracked the development of a sample of children (n = 45) between the age of 6 months and 4 years with a significant cognitive and motor developmental delay, in Belgium and the Netherlands. RESULTS: The complexity of the children’s disabilities and daily life context, and subsequent challenges in measurement and analysis of variables, were confirmed and reflected upon. CONCLUSIONS: Due to the uniqueness and complexity of this target group, research should be characterized by creativity, perseverance and substantial modesty in the immediate generalization of results.

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12. Yıldız M, Demir Y, Kırcalı A, İncedere A. Caregiver Burden in Schizophrenia and Autism Spectrum Disorders: A Comparative Study. Psychiatry investigation. 2021; 18(12): 1180-7.

OBJECTIVE: There is no study comparing schizophrenia and autism spectrum disorders (ASD) in terms of caregiver burden. This study aims to compare the caregiver burden among family members of the patients with schizophrenia and ASD and investigate the predictive factors. METHODS: A cross-sectional study with the family members living with and/or providing care to their patients was carried out. A sociodemographic form, the Beck Depression Inventory, the Self-Stigma Inventory for Families, and the Zarit Caregiver Burden Scale were utilized. Regression analyses were conducted to determine the predictive factors for higher burden. RESULTS: Caregiver burden in ASD was significantly higher than in schizophrenia. Regression analysis showed that the predictors of high caregiver burden were the need for self-care (OR=3.6), self-destructive behaviors (OR=3.4), self-stigma (OR=1.1), depression (OR=1.1), and level of income (OR=1.0) for all family members. When the diagnosis was removed from the equation, the factors determining the high burden did not change. CONCLUSION: This study suggests that characteristics of the illness are stronger predictors than family members’ characteristics in explaining high caregiver burden for both illnesses. Psychological, social, and economic supports should be provided for families to help alleviate their caregiving burden.

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