1. Afif IY, Manik AR, Munthe K, Maula MI, Ammarullah MI, Jamari J, Winarni TI. Physiological Effect of Deep Pressure in Reducing Anxiety of Children with ASD during Traveling: A Public Transportation Setting. Bioengineering (Basel, Switzerland). 2022; 9(4).

Traveling with children with autism can be very challenging for parents due to their reactions to sensory stimuli resulting in behavioral problems, which lead to self-injury and danger for themselves and others. Deep pressure was reported to have a calming effect on people with autism. This study was designed to investigate the physiological effect of deep pressure, which is an autism hug machine portable seat (AHMPS) in children with autism spectrum disorders (ASD) in public transportation settings. The study was conducted with 20 children with ASD (16 boys and 4 girls) at the Semarang Public Special School with an age ranging from 4 to 13 years (mean 10.9 ± 2.26 years), who were randomly assigned into two groups. The experiment consisted of group I who used the AHMPS inflatable wraps model and group II who used the AHMPS manual pull model. Heart rate (HR) and skin conductance (SC) were analyzed to measure the physiological calming effect using pulse oximeter oximetry and a galvanic skin response (GSR) sensor. Heart rate was significantly decreased during the treatment compared to the baseline (pre-test) session in group I (inflating wrap model) with p = 0.019, while no change of heart rate variability (HRV) was found in group II (manual pull model) with p = 0.111. There was no remaining effect of deep pressure using the HRV indicator after the treatment in both groups (group I with p = 0.159 and group II with p = 0.566). GSR captured the significant decrease in skin conductance during the treatment with p < 0.0001 in group I, but no significant decrease was recorded in group II with p = 0.062. A skin conductance indicator captured the remaining effect of deep pressure (after the treatment); it was better in group I (p = 0.003) than in group II (p = 0.773). In conclusion, the deep pressure of the AHMPS inflating wrap decreases physiological arousal in children with ASD during traveling.

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2. Assimopoulos S, Hammill C, Fernandes DJ, Spencer Noakes TL, Zhou YQ, Nutter LMJ, Ellegood J, Anagnostou E, Sled JG, Lerch JP. Genetic mouse models of autism spectrum disorder present subtle heterogenous cardiac abnormalities. Autism research : official journal of the International Society for Autism Research. 2022.

Autism spectrum disorder (ASD) and congenital heart disease (CHD) are linked on a functional and genetic level. Most work has investigated CHD-related neurodevelopmental abnormalities. Cardiac abnormalities in ASD have been less studied. We investigated the prevalence of cardiac comorbidities relative to ASD genetic contributors. Using high frequency ultrasound imaging, we screened 9 ASD-related genetic mouse models (Arid1b((+/-)) , Chd8((+/-)) , 16p11.2 (deletion), Sgsh((+/-)) , Sgsh((-/-)) , Shank3 Δexon 4-9((+/-)) , Shank3 Δexon 4-9((-/-)) , Fmr1((-/-)) , Vps13b((+/-)) ), and pooled wild-type littermates (WTs). We measured heart rate (HR), aorta diameter (AoD), thickness and thickening of the left-ventricular (LV) anterior and posterior walls, LV chamber diameter, fractional shortening, stroke volume and cardiac output, mitral inflow Peak E and A velocity ratio, ascending aorta velocity time integral (VTI). Mutant groups presented small-scale alterations in cardiac structure and function compared to WTs (LV anterior wall thickness and thickening, chamber diameter and fractional shortening, HR). A greater number of significant differences was observed among mutant groups than between mutant groups and WTs. Mutant groups differed primarily in structural measures (LV chamber diameter and anterior wall thickness, HR, AoD). The mutant groups with most differences to WTs were 16p11.2 (deletion), Fmr1((-/-)) , Arid1b((+/-)) . The mutant groups with most differences from other mutant groups were 16p11.2 (deletion), Sgsh((+/-)) , Fmr1((-/-)) . Our results recapitulate the associated clinical findings. The characteristic ASD heterogeneity was recapitulated in the cardiac phenotype. The type of abnormal measures (morphological, functional) can highlight common underlying mechanisms. Clinically, knowledge of cardiac abnormalities in ASD can be essential as even non-lethal abnormalities impact normal development. LAY SUMMARY: Autism spectrum disorder (ASD) and congenital heart disease (CHD) are linked functionally and genetically. ASD cardiac phenotyping is limited. We assessed the cardiac phenotype of 9 ASD-related mouse models. We found subtle heterogenous cardiac abnormalities compared to controls, with more differences within ASD than between ASD and controls, mirroring clinical findings. Clinically, knowing the cardiac abnormalities in ASD is vital as even non-lethal cardiac abnormalities can impact development.

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3. Bocheva N, Hristov I, Stefanov S, Totev T, Staykova SN, Mihaylova MS. How the External Visual Noise Affects Motion Direction Discrimination in Autism Spectrum Disorder. Behavioral sciences (Basel, Switzerland). 2022; 12(4).

Along with social, cognitive, and behavior deficiencies, peculiarities in sensory processing, including an atypical global motion processing, have been reported in Autism Spectrum Disorder (ASD). The question about the enhanced motion pooling in ASD is still debatable. The aim of the present study was to compare global motion integration in ASD using a low-density display and the equivalent noise (EN) approach. Fifty-seven children and adolescents with ASD or with typical development (TD) had to determine the average direction of movement of 30 Laplacian-of-Gaussian micro-patterns. They moved in directions determined by a normal distribution with a standard deviation of 2°, 5°, 10°, 15°, 25°, and 35°, corresponding to the added external noise. The data obtained showed that the ASD group has much larger individual differences in motion direction thresholds on external noise effect than the TD group. Applying the equivalent noise paradigm, we found that the global motion direction discrimination thresholds were more elevated in ASD than in controls at all noise levels. These results suggest that ASD individuals have a poor ability to integrate the local motion information in low-density displays.

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4. Bordey A. Neuro2D Lies at the Nexus of Autism, Epilepsy, and Intellectual Disabilities. Epilepsy currents. 2022; 22(2): 132-4.

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5. Chisholm AK, Lami F, Haebich KM, Ure A, Brignell A, Maloof T, Pride NA, Walsh KS, Maier A, Rouel M, Granader Y, Barton B, Darke H, Fuelscher I, Dabscheck G, Anderson VA, Williams K, North KN, Payne JM. Sex- and age-related differences in autistic behaviours in children with neurofibromatosis type 1. Journal of autism and developmental disorders. 2022.

This study investigated sex and age differences in autistic behaviours in children with neurofibromatosis type 1 (NF1) who scored within the clinical range on the Social Responsiveness Scale – Second Edition (T score ≥ 60). Thirty-four males and 28 females (3-16 years) were assessed with the Autism Diagnostic Observation Schedule – Second Edition and Autism Diagnostic Interview – Revised. Across both measures, males exhibited greater social communication deficits relative to females. Age-related abatement of social communication difficulties was observed for males but not females. Conversely, no sex differences were found for restricted/repetitive behaviours, which were stable over time for both males and females. The findings are discussed within the context of broader neurodevelopmental considerations that are common in NF1.

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6. Elesawy RO, El-Deeb OS, Eltokhy AK, Arakeep HM, Ali DA, Elkholy SS, Kabel AM. Postnatal baicalin ameliorates behavioral and neurochemical alterations in valproic acid-induced rodent model of autism: The possible implication of sirtuin-1/mitofusin-2/ Bcl-2 pathway. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie. 2022; 150: 112960.

Autism spectrum disorder (ASD) is characterized by pervasive impairments in social communication along with repetitive or stereotyped behaviors. Although its distinctive etiology isn`t completely understood, genetic and environmental risk factors were incriminated. Being a flavonoid of high biomedical value, baicalin was recently verified as an emerging medicinal herb with numerous pharmacological activities. The objective of this study was to investigate the feasible effects of baicalin on valproic acid (VPA)-induced autism regarding its potential mitochondrial modulatory, antioxidant, and antiapoptotic effects. The present study was performed using a rodent model of autism by exposing rat fetuses to VPA on the 12.5th day of gestation. Ten male Wistar rats that were born from control pregnant females were considered as group I (control group). Twenty male Wistar rats that were born from prenatal VPA- treated females were further divided into two groups: Group II (VPA- induced ASD) and group III (VPA + Baicalin). Postnatal baicalin promoted postnatal growth and maturation. In addition, it improved motor development and ameliorated repetitive behavior as well as social deficits in prenatally exposed VPA rats. Moreover, baicalin enhanced neuronal mitochondrial functions as evidenced by elevation of mitochondrial adenosine triphosphate (ATP) level and promotion of mitofusin-2 expression. Furthermore, baicalin elevated sirtuin-1 (SIRT1) level in VPA rats’ brain tissues and restored the antioxidant defense mechanisms. Besides, it abrogated the neuronal histopathological changes in the brain tissues. Based on the data herein, baicalin may provide a promising pre-clinical therapeutic line in ASD as a mitochondrial function modulator, antioxidant and anti-apoptotic agent.

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7. Hamid N, Azizy B, Hamidinejad H. Toxoplasma Gondi Infection and Aggression in Autistic Children. The Pediatric infectious disease journal. 2022.

BACKGROUND: Toxoplasmosis is an infectious disease caused by the obligatory intracellular parasite Toxoplasma gondii. The main aim of this study was to evaluate a possible relationship between aggression in autistic children with infection by T. gondii. METHODS: The research design was an analytical (comparative) cross sectional study. The participants included (N = 100) subjects (50 autistic and 50 normal children) between 3 and 12 years old. They were matched for age, socioeconomic status, lack of physical and mental illness. The instruments were preschool aggression scale and enzyme-linked immunosorbent assay procedure to essay the blood sample test. Five milliliters of blood samples were collected to assess the presence of T. gondii infection. RESULTS: The results showed that autistic children had a higher rate of infection by T. gondii than normal children. Furthermore, children infected with T. gondii were more aggressive than the noninfected group. CONCLUSIONS: In autistic children, T. gondii infection was significantly higher than in the normal group. Also, autistic children who were infected with the parasite were more aggressive.

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8. Hampton S, Allison C, Baron-Cohen S, Holt R. Autistic People’s Perinatal Experiences II: A Survey of Childbirth and Postnatal Experiences. Journal of autism and developmental disorders. 2022.

Qualitative accounts indicate there are sensory and communication related barriers to adequate childbirth and postnatal healthcare for autistic people. However, little quantitative work has explored the topic. This online survey study explored childbirth and postnatal experiences among 384 autistic and 492 non-autistic people. Compared with non-autistic people, autistic people were more likely to find the sensory aspects of birth overwhelming, and experienced lower satisfaction with birth-related and postnatal healthcare. Autistic people were more likely to experience postnatal depression and anxiety. The findings highlight that sensory and communication adjustments should be made to birth and postnatal healthcare for autistic people. The findings indicate the need for greater autism understanding among professionals and greater postnatal mental health support for autistic people.

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9. Han YMY, Yau SY, Chan MMY, Wong CK, Chan AS. Altered Cytokine and BDNF Levels in Individuals with Autism Spectrum Disorders. Brain sciences. 2022; 12(4).

Previous studies have shown that immunological factors are involved in the pathogenesis of autism spectrum disorders (ASDs). The present study examined whether immunological abnormalities are associated with cognitive and behavioral deficits in children with ASD and whether children with ASD show different immunological biomarkers and brain-derived neurotrophic factor BDNF levels than typically developing (TD) children. Sixteen children with TD and 18 children with ASD, aged 6-18 years, voluntarily participated in the study. Participants’ executive functions were measured using neuropsychological tests, and behavioral measures were measured using parent ratings. Immunological measures were assessed by measuring the participants’ blood serum levels of chemokine ligand 2 (CCL2) and chemokine ligand 5 (CCL5). Children with ASD showed greater deficits in cognitive functions as well as altered levels of immunological measures when compared to TD children, and their cognitive functions and behavioral deficits were significantly associated with increased CCL5 levels and decreased BDNF levels. These results provide evidence to support the notion that altered immune functions and neurotrophin deficiency are involved in the pathogenesis of ASD.

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10. Horn J, Mayer DE, Chen S, Mayer EA. Role of diet and its effects on the gut microbiome in the pathophysiology of mental disorders. Translational psychiatry. 2022; 12(1): 164.

There is emerging evidence that diet has a major modulatory influence on brain-gut-microbiome (BGM) interactions with important implications for brain health, and for several brain disorders. The BGM system is made up of neuroendocrine, neural, and immune communication channels which establish a network of bidirectional interactions between the brain, the gut and its microbiome. Diet not only plays a crucial role in shaping the gut microbiome, but it can modulate structure and function of the brain through these communication channels. In this review, we summarize the evidence available from preclinical and clinical studies on the influence of dietary habits and interventions on a selected group of psychiatric and neurologic disorders including depression, cognitive decline, Parkinson’s disease, autism spectrum disorder and epilepsy. We will particularly address the role of diet-induced microbiome changes which have been implicated in these effects, and some of which are shared between different brain disorders. While the majority of these findings have been demonstrated in preclinical and in cross-sectional, epidemiological studies, to date there is insufficient evidence from mechanistic human studies to make conclusions about causality between a specific diet and microbially mediated brain function. Many of the dietary benefits on microbiome and brain health have been attributed to anti-inflammatory effects mediated by the microbial metabolites of dietary fiber and polyphenols. The new attention given to dietary factors in brain disorders has the potential to improve treatment outcomes with currently available pharmacological and non-pharmacological therapies.

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11. Kim H, Cho B, Park H, Kim J, Kim S, Shin J, Lengner CJ, Won KJ, Kim J. Dormant state of quiescent neural stem cells links Shank3 mutation to autism development. Molecular psychiatry. 2022.

Autism spectrum disorders (ASDs) are common neurodevelopmental disorders characterized by deficits in social interactions and communication, restricted interests, and repetitive behaviors. Despite extensive study, the molecular targets that control ASD development remain largely unclear. Here, we report that the dormancy of quiescent neural stem cells (qNSCs) is a therapeutic target for controlling the development of ASD phenotypes driven by Shank3 deficiency. Using single-cell RNA sequencing (scRNA-seq) and transposase accessible chromatin profiling (ATAC-seq), we find that abnormal epigenetic features including H3K4me3 accumulation due to up-regulation of Kmt2a levels lead to increased dormancy of qNSCs in the absence of Shank3. This result in decreased active neurogenesis in the Shank3 deficient mouse brain. Remarkably, pharmacological and molecular inhibition of qNSC dormancy restored adult neurogenesis and ameliorated the social deficits observed in Shank3-deficient mice. Moreover, we confirmed restored human qNSC activity rescues abnormal neurogenesis and autism-like phenotypes in SHANK3-targeted human NSCs. Taken together, our results offer a novel strategy to control qNSC activity as a potential therapeutic target for the development of autism.

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12. Ma J, Ma H, Zhang K, Lyu Y, Gao M, Wang D, Gai Z, Liu Y. [Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2022; 39(4): 428-32.

OBJECTIVE: To explore the genetic basis for a child manifesting with intellectual disability, language delay and autism spectrum disorder. METHODS: Genomic DNA was extracted from peripheral blood samples of the child and his family members, and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing and interpreted according to the guidelines of the American College of Medical Genetics and Genomics. RESULTS: The child was found to harbor a heterozygous c.568C>T (p.Q190X) nonsense variant of the ADNP gene, which was not detected in either parent by Sanger sequencing. CONCLUSION: The clinical and genetic testing both suggested that the child has Helsmoortel-van der Aa syndrome due to ADNP gene mutation, which is extremely rare in China.

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13. Morel C, Christophe A, Maguin-Gaté K, Paoli J, Turner JD, Schroeder H, Grova N. Head-to-Head Study of Developmental Neurotoxicity and Resultant Phenotype in Rats: α-Hexabromocyclododecane versus Valproic Acid, a Recognized Model of Reference for Autism Spectrum Disorders. Toxics. 2022; 10(4).

Evidence is now growing that exposure to environmental pollutants during the critical early-life period of brain development may contribute to the emergence of Autism Spectrum Disorders (ASD). This study seeks to compare the developmental neurotoxicity of the α-isomer of hexabromocyclododecane (α-HBCDD), a persistent brominated flame retardant, to the valproic acid (VPA) model of ASD in rodents. Pregnant Wistar rats were divided into three groups: control, α-HBCDD (100 ng/kg/day p.o., GD0-PND21) and VPA (600 mg/kg i.p., GD12). Male offspring were tested for their neuromotor development from PND2-21. At PND21, brain functionality was assessed by measuring cytochrome oxidase activity (CO). Modifications in neuroglia and synaptic plasticity were evaluated in the cortex. Similar subtle behavioural changes related to neuromotor maturation and noise reaction were observed in both treated groups. At PND21, a reduction in CO activity was measured in the VPA group only, in specific areas including auditory nuclei, visual cortex, cingulate and frontal cortices. At the same age, α-HBCDD pointed out significant overexpression of cortical markers of synaptic plasticity while both treated groups showed a significant under expression of astrocyte proteins (S100-β and GFAP). Early-life exposure to a low dose of α-HBCDD may trigger neurobehavioural alterations in line with ASD.

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14. Peterson CC, Wellman HM. Altruism, hypocrisy and theory of mind in autistic and nonautistic children. Developmental psychology. 2022.

Children make choices between generosity and greed every day. Often they must also choose between confession or denial of antisocial acts like greed, thereby displaying either honesty or hypocrisy. Such choices pose cognitive challenges that, in theory, might reflect children’s developing social-cognitions and affect their daily social lives and developmental opportunities. Individual differences in altruism and hypocrisy were examined in relation to theory of mind (ToM) in 102 school-age children (44 autistic; 58 typically developing) using ecologically valid altruism and hypocrisy tests where generosity had lasting real-life costs and hypocrisy was self-serving. Selfless altruism was abundant for autistic and nonautistic children alike and was significantly predicted by ToM over and above other predictors like age, gender, and language. More nonautistic (74%) than autistic children (41%) displayed hypocrisy, although individual ToM differences among ASD children were not significantly correlated with it. Findings extend to new instances (altruism and hypocrisy) evidence of ToM’s importance for everyday social behaviors that impact upon peer relations while also extending past evidence that: (a) unexpected sociomoral strengths can coexist with ToM delays, (b) attention to individual differences is crucial, and (c) autistic children’s capacity to develop sociomoral reasoning should not be underestimated. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

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15. Sridhar A, Kuhn J, Faja S, Sabatos-DeVito M, Nikolaeva JI, Dawson G, Nelson CA, Webb SJ, Bernier R, Jeste S, Chawarska K, Sugar CA, Shic F, Naples A, Dziura J, McPartland JC. Patterns of Intervention Utilization Among School-Aged Children with Autism Spectrum Disorder: Findings from a Multi-Site Research Consortium. Research in autism spectrum disorders. 2022; 94.

When designing and interpreting results from clinical trials evaluating treatments for children on the autism spectrum, a complicating factor is that most children receive a range of concurrent treatments. Thus, it is important to better understand the types and hours of interventions that participants typically receive as part of standard of care, as well as to understand the child, family, and geographic factors that are associated with different patterns of service utilization. In this multi-site study, we interviewed 280 caregivers of 6-to-11-year-old school-aged children on the autism spectrum about the types and amounts of interventions their children received in the prior 6 weeks. Reported interventions were coded as « evidence-based practice » or « other interventions, » reflecting the level of empirical support. Results indicated that children received a variety of interventions with varying levels of empirical evidence and a wide range of hours (0 to 79.3 hours/week). Children with higher autism symptom levels, living in particular states, and who identified as non-Hispanic received more evidence-based intervention hours. Higher parental education level related to more hours of other interventions. Children who were younger, had lower cognitive ability, and with higher autism symptom levels received a greater variety of interventions overall. Thus, based on our findings, it would seem prudent when designing clinical trials to take into consideration a variety of factors including autism symptom levels, age, cognitive ability, ethnicity, parent education and geographic location. Future research should continue to investigate the ethnic, racial, and socioeconomic influences on school-aged intervention services.

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16. Stadheim J, Johns A, Mitchell M, Smith CJ, Braden BB, Matthews NL. A qualitative examination of the impact of the COVID-19 pandemic on children and adolescents with autism and their parents. Research in developmental disabilities. 2022; 125: 104232.

BACKGROUND: The unprecedented challenges introduced by the Coronavirus disease 2019 (COVID-19) pandemic may be amplified for children with autism spectrum disorder (ASD) and their families. AIMS: The current study aimed to describe the experiences of children with ASD and their families during the pandemic and to identify the needs of this community during emergency situations. METHODS AND PROCEDURES: Participants were 122 parents of 122 children and adolescents (aged 3-18 years; one parent per family participated) with ASD living in Arizona, USA who participated in the first time point (July/August 2020) of a larger longitudinal survey study. A qualitative approach based in grounded theory methodology was used to analyze six open-ended survey questions. OUTCOMES AND RESULTS: The resulting conceptual model included a core category, Longing for Stability, and four main categories: Public Health Measures Yielding New Challenges and Unexpected Gains, Experiencing Abrupt Changes across Developmental Domains, Changing Family Dynamics, and Protective Factors. CONCLUSIONS: Findings add to limited research examining whether, and how, emergency events uniquely impact the ASD community, identifying potential methods by which services can be proactively adapted to best support the needs of children with ASD.

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17. Stevens MA, Selders KJ, Jeckel O, Brownfield V, Nowell KP. An Evaluation of Parent and Teacher Discrepancies on an Adaptive Behavior Measure for Youth with Autism Spectrum Disorder, Intellectual Disability, and Global Developmental Delay. Journal of autism and developmental disorders. 2022.

Comprehensive evaluations include data from multiple informants, but discrepancies occur on adaptive skill measures of youth with autism spectrum disorder (ASD) and intellectual disabilities (ID). This study investigated discrepancies between parent-teacher ratings on a measure of adaptive behavior [Adaptive Behavior Assessment System, Third Edition (ABAS-3)] in a clinical sample of 115 youth. Agreement between informants was determined and then discrepancies were identified using paired-sample t-tests for the whole sample and subsamples. Factors associated with parent-teacher discrepancies were investigated including age, diagnoses, IQ, autism symptomology, and parent education. Parent-teacher scores were moderately correlated for the ABAS-3 composite and domains. Teachers rated youth with ASD and ID as having higher adaptive skills. Autism symptomology significantly predicted discrepancies between informants on the ABAS-3.

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18. Szapuova ZJ, Argalasova L, Vondrova D, Jansakova K, Belica I, Kopcikova M, Babinska K, Ostatnikova D. Association between Environmental Tobacco Smoke Exposure and Adaptive Behavior in Individuals with Autism Spectrum Disorder. Toxics. 2022; 10(4).

The study focuses on current issues of adaptive behavior in individuals with autism spectrum disorder (ASD) and on the possible risk factor of environmental tobacco smoke (ETS). Children examined at the Academic Research Center for Autism (ARCA) in Bratislava were involved in the study. The study sample included 84 children (71 boys) with ASD (average age 5.35 years) and a non-ASD group of 24 children (20 boys; average age 8.10 years). The « ETS Questionnaire » focused on the detection of parental smoking habits and other ETS exposures. The concentrations of cotinine in urine were measured by ELISA kit. A significant delay in adaptive behavior of children with ASD in comparison with the non-ASD group was identified. The significant differences were in adaptive behavior, communication, and everyday skills. Children with ASD were more likely to be exposed to ETS, especially in the household. Good agreement was found between objective and subjective ETS exposure indicators (kappa = 0.613). Self-reported exposure to ETS corresponded significantly with the median levels of urinary cotinine. In addition to evaluation and assessment of the quality of adaptive behavior, an important goal of further research should be to identify, investigate, and eliminate environmental factors that interfere with adaptive behavior.

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19. Wang D, Artymowicz A, Park J. A Child With Severe Autism Spectrum Disorder With Bilateral Corneal Ulcers. JAMA ophthalmology. 2022.

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20. Weerasekera A, Ion-Mărgineanu A, Nolan G, Mody M. Subcortical Brain Morphometry Differences between Adults with Autism Spectrum Disorder and Schizophrenia. Brain sciences. 2022; 12(4).

Autism spectrum disorder (ASD) and schizophrenia (SZ) are neuropsychiatric disorders that overlap in symptoms associated with social-cognitive impairment. Subcortical structures play a significant role in cognitive and social-emotional behaviors and their abnormalities are associated with neuropsychiatric conditions. This exploratory study utilized ABIDE II/COBRE MRI and corresponding phenotypic datasets to compare subcortical volumes of adults with ASD (n = 29), SZ (n = 51) and age and gender matched neurotypicals (NT). We examined the association between subcortical volumes and select behavioral measures to determine whether core symptomatology of disorders could be explained by subcortical association patterns. We observed volume differences in ASD (viz., left pallidum, left thalamus, left accumbens, right amygdala) but not in SZ compared to their respective NT controls, reflecting morphometric changes specific to one of the disorder groups. However, left hippocampus and amygdala volumes were implicated in both disorders. A disorder-specific negative correlation (r = -0.39, p = 0.038) was found between left-amygdala and scores on the Social Responsiveness Scale (SRS) Social-Cognition in ASD, and a positive association (r = 0.29, p = 0.039) between full scale IQ (FIQ) and right caudate in SZ. Significant correlations between behavior measures and subcortical volumes were observed in NT groups (ASD-NT range; r = -0.53 to -0.52, p = 0.002 to 0.004, SZ-NT range; r = -0.41 to -0.32, p = 0.007 to 0.021) that were non-significant in the disorder groups. The overlap of subcortical volumes implicated in ASD and SZ may reflect common neurological mechanisms. Furthermore, the difference in correlation patterns between disorder and NT groups may suggest dysfunctional connectivity with cascading effects unique to each disorder and a potential role for IQ in mediating behavior and brain circuits.

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21. Whelan S, Mannion A, Madden A, Berger F, Costello R, Ghadiri S, Leader G. Examining the Relationship Between Sleep Quality, Social Functioning, and Behavior Problems in Children with Autism Spectrum Disorder: A Systematic Review. Nature and science of sleep. 2022; 14: 675-95.

Over forty percent of autistic children experience poor sleep quality, and social interaction difficulties are a core characteristic of autism. However, the relationship between sleep quality and social functioning and behavior remains poorly understood. This systematic review examined the evidence concerning the impact of sleep quality on the social functioning and behavior problems in autistic children and adolescents. It also identified key related factors and evaluated how this issue has been researched to date. Seven key journals were hand-searched and five databases were systematically searched, using keywords. Titles and abstracts of 4123 items were screened against eligibility criteria by two researchers. Relevant studies were retained if they were peer-reviewed empirical papers, published in English between 2000 and 2021. Then, the full text of 97 papers was screened and if they met the eligibility criteria, their reference lists were hand-searched. Forty-six studies were included in the final review. Data were systematically extracted and two authors critically appraised the strengths and weaknesses of studies using Critical Appraisal Skills Programme tools. Key themes were identified, because a meta-analysis was not possible due to the studies’ heterogeneity. The review identified that sleep quality and social functioning are associated with one another and there is a small amount of evidence that a bi-directional causal relationship may exist. Evidence suggests that several nights of suboptimal sleep duration and a lack of deep continuous sleep negatively impact externalizing and internalizing behavior. Sleep quality is also reduced by anxiety and sensory sensitivity. However, longitudinal studies with larger samples are needed to establish causality. Future research needs to examine confounding factors and to develop consensus regarding best-practice processes for the objective measurement of sleep with autistic children. Additional research also needs to further examine the consequences of poor sleep quality on internalizing behavior, and the impact of socio-cultural practices.

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22. Zandl-Lang M, Züllig T, Trötzmüller M, Naegelin Y, Abela L, Wilken B, Scholl-Buergi S, Karall D, Kappos L, Köfeler H, Plecko B. Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome. Metabolites. 2022; 12(4).

Rett syndrome (RTT) is defined as a rare disease caused by mutations of the methyl-CpG binding protein 2 (MECP2). It is one of the most common causes of genetic mental retardation in girls, characterized by normal early psychomotor development, followed by severe neurologic regression. Hitherto, RTT lacks a specific biomarker, but altered lipid homeostasis has been found in RTT model mice as well as in RTT patients. We performed LC-MS/MS lipidomics analysis to investigate the cerebrospinal fluid (CSF) and plasma composition of patients with RTT for biochemical variations compared to healthy controls. In all seven RTT patients, we found decreased CSF cholesterol levels compared to age-matched controls (n = 13), whereas plasma cholesterol levels were within the normal range in all 13 RTT patients compared to 18 controls. Levels of phospholipid (PL) and sphingomyelin (SM) species were decreased in CSF of RTT patients, whereas the lipidomics profile of plasma samples was unaltered in RTT patients compared to healthy controls. This study shows that the CSF lipidomics profile is altered in RTT, which is the basis for future (functional) studies to validate selected lipid species as CSF biomarkers for RTT.

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