1. Bagnall R, Russell A, Brosnan M, Maras K. Autistic adults’ inclination to lie in everyday situations. Autism;2023 (Aug 12):13623613231183911.

Differences in social communication and understanding others’ mental states may mean that autistic adults are less likely to deceive others than non-autistic individuals. We investigated whether autistic and non-autistic adults differ in their inclination to lie and which psychological factors are involved in the inclination to lie. We found that autistic and non-autistic groups reported a similar inclination to lie, and the extent to which participants viewed lying as acceptable helped to explain their inclination to deceive others. However, the other underlying psychological factors associated with deception inclination differed between autistic and non-autistic groups. Autistic adults’ belief about their ability to lie and also how quickly they could lie helped to explain whether they were more or less inclined to lie. For non-autistic adults, their memory and ability to understand others’ mental states helped to explain their lie inclination. We discuss these findings and recommend areas for future research.

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2. Barsotti J, Mangani G, Nencioli R, Narzisi A, Pfanner L, Chilosi AM, Cipriani P, Mancini A, Cosenza A, Tancredi R, Calderoni S. Sex/Gender Differences in the Language Profiles of Italian Children with Autism Spectrum Disorder: A Retrospective Study. J Clin Med;2023 (Jul 26);12(15)

Sex/gender (S/G) differences in ASD language profiles have been poorly investigated. The present study aims to explore whether male (M) and female (F) children with ASD and with normal non-verbal cognitive abilities differ in their linguistic profiles. A sample of 76 Italian children with ASD (range: 4.9-8 years), including 50 Ms and 26 Fs, was retrospectively recruited. Language profiles were analyzed using standardized tests for the evaluation of receptive and expressive vocabulary as well as grammar. Grammatical comprehension was the most impaired domain compared to the other language measures in both M and F children. Comparing language profiles between S/G, Fs showed significantly better scores than Ms in grammatical production (p = 0.002), and Ms showed better active negative sentence comprehension (p = 0.035). Moreover, comparing the language profiles between Ms and Fs with a receptive disorder, Fs had significantly worse grammatical comprehension and better grammatical production than Ms. Even among children without a receptive disorder, Fs had significantly higher grammatical production scores. The S/G differences in language profile, particularly better expressive language in Fs than Ms, can partially contribute to the delayed ASD diagnosis or underdiagnosis of Fs without intellectual disability. Finally, the results document the importance of accurately investigating both expressive and receptive abilities in children with ASD.

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3. Bilder DA, Worsham W, Sullivan S, Esplin MS, Burghardt P, Fraser A, Bakian AV. Sex-specific and sex-independent steroid-related biomarkers in early second trimester maternal serum associated with autism. Mol Autism;2023 (Aug 12);14(1):30.

BACKGROUND: Prenatal exposure to maternal metabolic conditions associated with inflammation and steroid dysregulation has previously been linked to increased autism risk. Steroid-related maternal serum biomarkers have also provided insight into the in utero steroid environment for offspring who develop autism. OBJECTIVE: This study examines the link between autism among offspring and early second trimester maternal steroid-related serum biomarkers from pregnancies enriched for prenatal metabolic syndrome (PNMS) exposure. STUDY DESIGN: Early second trimester maternal steroid-related serum biomarkers (i.e., estradiol, free testosterone, total testosterone, and sex hormone binding globulin) were compared between pregnancies corresponding to offspring with (N = 68) and without (N = 68) autism. Multiple logistic regression analyses were stratified by sex and gestational duration. One-way ANCOVA with post hoc tests was performed for groups defined by autism status and PNMS exposure. RESULTS: Increased estradiol was significantly associated with autism only in males (AOR = 1.13 per 100 pg/ml, 95% CI 1.01-1.27, p = 0.036) and only term pregnancies (AOR = 1.17 per 100 pg/ml, 95% CI 1.04-1.32, p = 0.010). Autism status was significantly associated with decreased sex hormone binding globulin (AOR = 0.65 per 50 nmol/L, 95% CI 0.55-0.78, p < 0.001) overall and when stratified by sex and term pregnancy status. The inverse association between sex hormone binding globulin and autism was independent of PNMS exposure. LIMITATIONS: The relative racial and ethnic homogeneity of Utah's population limits the generalizability of study results. Although significant differences by autism status were identified in concentrations of sex hormone binding globulin overall and of estradiol in participant subgroups, differences by PNMS exposure failed to reach statistical significance, which may reflect insufficient statistical power. CONCLUSION: Both elevated maternal serum estradiol in males only and low maternal serum sex hormone binding globulin in both sexes are associated with increased autism risk. Further investigation is merited to identify how steroid, metabolic, and inflammatory processes can interact to influence neurodevelopment in early second trimester.

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4. Czerwonogrodzka-Senczyna A, Milewska M, Kwiecień P, Szczałuba K. Diet and Nutritional Status of Polish Girls with Rett Syndrome-A Case-Control Study. Nutrients;2023 (Jul 27);15(15)

(1) Background: Rett syndrome may be considered a disease strongly associated with nutritional disorders that are likely to require special management strategies, extending beyond what is usually required for children with other developmental disorders. The aim of the study was to assess the nutritional status and diet of Polish girls with Rett syndrome. (2) Methods: Each patient (study group = 49, control group = 22) underwent anthropometric measurements, including body weight and height, waist, hip and arm circumference, and skinfold measurement. The assessment of the diet was based on the analysis of 7-day menus and the Food Frequency Questionnaire (FFQ-6). Data were analyzed using Statistica 13.3. (3) Results: The majority of the girls with Rett syndrome were deficient in weight and height, and consumed fewer calories, less protein, dietary fiber, calcium, and iron than the control group. They also drank less fluid. Soft products that were easy to chew and considered to be high in energy value were significantly more common in the menus. (4) Conclusions: Girls with Rett syndrome are characterized by weight deficiencies, poor growth that deteriorates with age, and are at risk of food shortages. Various nutritional intervention strategies should be explored to reduce and, if possible, prevent malnutrition and cachexia in such patients.

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5. Hudu SA, Elmigdadi F, Qtaitat AA, Almehmadi M, Alsaiari AA, Allahyani M, Aljuaid A, Salih M, Alghamdi A, Alrofaidi MA, Abida, Imran M. Trofinetide for Rett Syndrome: Highlights on the Development and Related Inventions of the First USFDA-Approved Treatment for Rare Pediatric Unmet Medical Need. J Clin Med;2023 (Aug 4);12(15)

Rett syndrome (RTT) is a rare disability causing female-oriented pediatric neurodevelopmental unmet medical need. RTT was recognized in 1966. However, over the past 56 years, the United States Food and Drug Administration (USFDA) has authorized no effective treatment for RTT. Recently, Trofinetide was approved by the USFDA on 10 March 2023 as the first RTT treatment. This article underlines the pharmaceutical advancement, patent literature, and prospects of Trofinetide. The data for this study were gathered from the PubMed database, authentic websites (Acadia Pharmaceuticals, Neuren Pharmaceuticals, and USFDA), and free patent databases. Trofinetide was first disclosed by Neuren Pharmaceuticals in 2000 as a methyl group containing analog of the naturally occurring neuroprotective tripeptide called glycine-proline-glutamate (GPE). The joint efforts of Acadia Pharmaceuticals and Neuren Pharmaceuticals have developed Trofinetide. The mechanism of action of Trofinetide is not yet well established. However, it is supposed to improve neuronal morphology and synaptic functioning. The patent literature revealed a handful of inventions related to Trofinetide, providing excellent and unexplored broad research possibilities with Trofinetide. The development of innovative Trofinetide-based molecules, combinations of Trofinetide, patient-compliant drug formulations, and precise MECP2-mutation-related personalized medicines are foreseeable. Trofinetide is in clinical trials for some neurodevelopmental disorders (NDDs), including treating Fragile X syndrome (FXS). It is expected that Trofinetide may be approved for treating FXS in the future. The USFDA-approval of Trofinetide is one of the important milestones for RTT therapy and is the beginning of a new era for the therapy of RTT, FXS, autism spectrum disorder (ASD), brain injury, stroke, and other NDDs.

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6. Kong XJ, Kang J, Liu K. Probiotic and intra-nasal oxytocin combination therapy on autonomic function and gut-brain axis signaling in young children and teens with autism spectrum disorder. J Psychiatr Res;2023 (Aug 12);166:1-9.

Autonomic dysfunction has been widely studied in individuals with autism spectral disorder (ASD); however, the autonomic response to probiotic and oxytocin (OT) combination intervention has not yet been explored. We conducted the present study that includes 35 individuals with ASD aged 3-20 years to explore autonomic responses to daily Lactobacillus plantarum probiotic supplementation and OT nasal spray treatment both alone and in combination. We identified significant improvements in autonomic indices from subjects receiving combination treatment relative to those receiving placebo. Parameters that were observed to improve following combination treatment are time domain metrics of heart rate variability (HRV), including the root mean square of successive differences between normal heartbeats (RMSSD), standard deviation of normal-to-normal R-R intervals (SDNN), and proportion of the number of pairs of adjacent NN intervals that differ by more than 50ms (pNN50, p < 0.05). Furthermore, individuals that received either probiotics or OT alone demonstrated fewer changes in RMSSD, pNN50, and SDNN. Several parameters that demonstrated significant improvements in combination therapy were found to be correlated with baseline levels of OT (LF power: r = -0.86, p = 0.024; mean HR: r = 0.89, p = 0.012). Additionally, Social Responsiveness Scale (SRS) raw total scores (mean HR, r = 0.86, p = 0.024) and Aberrant Behavior Checklist (ABC) raw total scores (mean HR r = 0.94, p = 0.017) were correlated with mean heart rate (HR) and HRV-derived parameters. These results provide further evidence of synergy of probiotic and OT combination and help us gain a better understanding of the role of the gut-brain axis in ASD phenotypes and pathogenesis.

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7. Le Donne I, Attanasio M, Bologna A, Vagnetti R, Masedu F, Valenti M, Mazza M. Autism and intention attribution test: a non-verbal evaluation with comic strips. Ann Gen Psychiatry;2023 (Aug 12);22(1):29.

BACKGROUND: Despite autism spectrum disorder (ASD) and mentalization being two words often associated in the literature, the assessment of this ability in individuals with ASD in the clinical setting is still limited. Indeed, there are no standardized Theory of Mind (ToM) tests that are adaptable to different cognitive profiles, such as individuals with language poverty, and intellectual or memory impairments. This study proposes a non-verbal test (Intentions Attribution-Comic Strip Test; IA-CST) to evaluate the ability to infer the intentions of others, a basic component of ToM, in the clinical setting. METHOD: In Study 1, the test was administered to 261 healthy individuals and we performed structural validation using Exploratory Graph Analysis. In Study 2, the final version of the test was administered to 32 individuals with ASD to assess the known group validity of the measure by comparing their scores with a sample of IQ-matched controls. Moreover, we performed logistic regression and ROC curve to preliminarily assess the diagnostic performance of the IA-CST. RESULTS: The IA-CST resulted in a 3-dimension measure with good structural stability. Group comparison indicated that the ASD group shows significantly lower performance in intention attribution but not in inferring causal consequences. The test demonstrated known group validity and that, preliminarily, it is suitable for implementation within the clinical practice. CONCLUSIONS: The results support the IA-CST as a valid non-verbal task for evaluating intentions attribution in the clinical setting. Difficulties in ToM are early and relevant in ASD, so assessing these aspects is valuable for structuring individualized and evidence-based interventions.

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8. Mirarchi A, Albi E, Beccari T, Arcuri C. Microglia and Brain Disorders: The Role of Vitamin D and Its Receptor. Int J Mol Sci;2023 (Jul 25);24(15)

Accounting for 5-20% of the total glial cells present in the adult brain, microglia are involved in several functions: maintenance of the neural environment, response to injury and repair, immunesurveillance, cytokine secretion, regulation of phagocytosis, synaptic pruning, and sculpting postnatal neural circuits. Microglia contribute to some neurodevelopmental disorders, such as Nasu-Hakola disease (NHD), Tourette syndrome (TS), autism spectrum disorder (ASD), and schizophrenia. Moreover, microglial involvement in neurodegenerative diseases, such as Alzheimer’s (AD) and Parkinson’s (PD) diseases, has also been well established. During the last two decades, epidemiological and research studies have demonstrated the involvement of vitamin D3 (VD3) in the brain’s pathophysiology. VD3 is a fat-soluble metabolite that is required for the proper regulation of many of the body’s systems, as well as for normal human growth and development, and shows neurotrophic and neuroprotective actions and influences on neurotransmission and synaptic plasticity, playing a role in various neurological diseases. In order to better understand the exact mechanisms behind the diverse actions of VD3 in the brain, a large number of studies have been performed on isolated cells or tissues of the central nervous system (CNS). Here, we discuss the involvement of VD3 and microglia on neurodegeneration- and aging-related diseases.

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9. Neufeld J, Maier S, Revers M, Reisert M, Kuja-Halkola R, Tebartz van Elst L, Bölte S. Reduced brain connectivity along the autism spectrum controlled for familial confounding by co-twin design. Sci Rep;2023 (Aug 12);13(1):13124.

Previous studies on brain connectivity correlates of autism have often focused on selective connections and yielded inconsistent results. By applying global fiber tracking and utilizing a within-twin pair design, we aimed to contribute to a more unbiased picture of white matter connectivity in association with clinical autism and autistic traits. Eighty-seven twin pairs (n = 174; 55% monozygotic; 24 with clinical autism) underwent diffusion tensor imaging. Linear regressions assessed within-twin pair associations between structural brain connectivity of anatomically defined brain regions and both clinical autism and autistic traits. These were explicitly adjusted for IQ, other neurodevelopmental/psychiatric conditions and multiple testing, and implicitly for biological sex, age, and all genetic and environmental factors shared by twins. Both clinical autism and autistic traits were associated with reductions in structural connectivity. Twins fulfilling diagnostic criteria for clinical autism had decreased brainstem-cuneus connectivity compared to their co-twins without clinical autism. Further, twins with higher autistic traits had decreased connectivity of the left hippocampus with the left fusiform and parahippocampal areas. These associations were also significant in dizygotic twins alone. Reduced brainstem-cuneus connectivity might point towards alterations in low-level visual processing in clinical autism while higher autistic traits seemed to be more associated with reduced connectivity in networks involving the hippocampus and the fusiform gyrus, crucial especially for processing of faces and other (higher order) visual processing. The observed associations were likely influenced by both genes and environment.

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10. Portnova GV, Proskurnina EV, Skorokhodov IV, Sokolova SV, Semirechenko AN, Varlamov AA. Salivary Oxytocin and Antioxidative Response to Robotic Touch in Adults with Autism Spectrum Disorder. Int J Mol Sci;2023 (Aug 1);24(15)

Individuals with ASD are known to have a tendency to have tactile sensory processing issues that could be associated with their impairment as regards social communication. The alterations in tactile processing in autistic subjects are usually accompanied by hypersensitivity and other unpleasant emotions induced by tactile contact. In our study, we investigated the impact of the velocity and the force of a tactile stroke received impersonally by a custom-built robotic device. A total of 21 adults with ASD and 22 adults from a control group participated in our study. The participants’ responses were assessed according to subjective scales, EEG changes, and the dynamics of saliva antioxidants and oxytocin. It was found that the oxytocin level was significantly lower in subjects with ASD but increased after tactile stimulation. However, contrary to expectations, the increase in the oxytocin level in the target group negatively correlated with the subjective pleasantness of tactile stimulation and was probably associated with a stress-induced effect. The basic levels of antioxidants did not differ between the TD and ASD groups; however, these had significantly increased in individuals with ASD by the end of the study. The EEG findings, which revealed enhanced antioxidant levels, contributed to the relief of the cognitive control during the study.

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11. Valenti D, Vacca RA. Brain Mitochondrial Bioenergetics in Genetic Neurodevelopmental Disorders: Focus on Down, Rett and Fragile X Syndromes. Int J Mol Sci;2023 (Aug 6);24(15)

Mitochondria, far beyond their prominent role as cellular powerhouses, are complex cellular organelles active as central metabolic hubs that are capable of integrating and controlling several signaling pathways essential for neurological processes, including neurogenesis and neuroplasticity. On the other hand, mitochondria are themselves regulated from a series of signaling proteins to achieve the best efficiency in producing energy, in establishing a network and in performing their own de novo synthesis or clearance. Dysfunctions in signaling processes that control mitochondrial biogenesis, dynamics and bioenergetics are increasingly associated with impairment in brain development and involved in a wide variety of neurodevelopmental disorders. Here, we review recent evidence proving the emerging role of mitochondria as master regulators of brain bioenergetics, highlighting their control skills in brain neurodevelopment and cognition. We analyze, from a mechanistic point of view, mitochondrial bioenergetic dysfunction as causally interrelated to the origins of typical genetic intellectual disability-related neurodevelopmental disorders, such as Down, Rett and Fragile X syndromes. Finally, we discuss whether mitochondria can become therapeutic targets to improve brain development and function from a holistic perspective.

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12. Wang W, Wang X. Non-suicidal self-injury in Chinese college students with elevated autistic traits: Associations with anxiety, rumination and experiential avoidance. Compr Psychiatry;2023 (Aug 6);126:152407.

Although existing studies have proved that autistic traits (AT) may have relations to non-suicidal self-injury (NSSI) behaviors, its associations with anxiety, rumination and experiential avoidance (EA) are still unclear. The current study, based on a sample of 1317 Chinese college students, explored the associations between AT, anxiety and NSSI, and the possible modulating roles of rumination and EA in these associations. The results shows that 1) a total of 334 (25.36%) students reported a history of NSSI and 30 (2.28%) students were categorized as high AT; 2) Students with high AT reported higher rates of NSSI than those with low AT (36.67% vs. 25.10%); 3) AT, anxiety, rumination and EA have positive relations with NSSI; 4) AT predicted NSSI indirectly through anxiety; 5) Rumination and EA significantly moderated the effects of AT on NSSI via anxiety. In conclusion, this study confirms the indirect effect of AT on NSSI through anxiety in Chinese college students, and further clarifies the reinforcing effects of rumination and EA on the associations between AT, anxiety and NSSI. These findings suggest that developing adaptive emotion-regulating strategies and positive coping styles might promote the prevention and treatment of NSSI behaviors among autistic individuals.

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13. Zhan XL, Pan N, Karatela S, Shi L, Wang X, Liu ZY, Jing J, Li XH, Cai L, Lin LZ. Infant feeding practices and autism spectrum disorder in US children aged 2-5 years: the national survey of children’s health (NSCH) 2016-2020. Int Breastfeed J;2023 (Aug 11);18(1):41.

OBJECTIVE: To investigate the relationship between infant feeding practices and autism spectrum disorder (ASD) among children aged 2-5 years in the United States (US). METHODS: Data from the 2016-2020 National Survey of Children’s Health, a nationally representative cross-sectional survey, were utilized for this study. Questionnaires were administered to parents of children aged 2-5 years to gather information on ASD diagnosis, infant feeding practices, and demographic factors (e.g., child sex, ethnic group, and maternal age at birth). Logistic regression with sample weights was employed to assess the association between infant feeding practices and ASD, while controlling for demographic variables. Polynomial regression models were used to examine trends in exclusive breastfeeding and ever breastfeeding rates among children with and without ASD. RESULTS: A total of 35,050 children aged 2-5 years were analyzed, including 616 diagnosed with ASD, after excluding participants with missing information on breastfeeding and ASD diagnosis. Of these children with ASD, 76.6% (n = 472) had a breastfeeding history, with 67.5% (n = 416) engaged in partial breastfeeding and 9.1% (n = 56) exclusively breastfed. Adjusted odds ratios for each additional month of breastfeeding compared to never being breastfed were 0.98 (95% CI, 0.96-1.01). The adjusted odds ratios for breastfeeding durations of > 0-6 months, > 6-12 months, > 12-24 months, and > 24 months were 0.81 (95% CI, 0.50-1.31), 0.65 (95% CI, 0.36-1.18), 0.81 (95% CI, 0.44-1.49), and 0.48 (95% CI, 0.23-1.01), respectively. Compared to children who were never breastfed, the adjusted odds ratio for children who were ever breastfed was 0.74 (95% CI, 0.47-1.18). Among children with ASD, the proportion of ever breastfeeding declined from 82.0% in 2017 to 64.3% in 2020, while exclusive breastfeeding decreased from 12.0% in 2016 to 4.2% in 2020. CONCLUSIONS AND RELEVANCE: Although no significant association was found between infant feeding practices and ASD among US children aged 2-5 years, the rates of breastfeeding, particularly exclusive breastfeeding, were suboptimal among children with ASD. This highlights the need for specific policies and practices to promote and support breastfeeding among parents of children with ASD or those at high risk of having a child with ASD.

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