1. Almalki AH, Alaqel SI, Alharbi A, Abduljabbar MH, Bamaga AK, Alsenani F, Ramzy S. Spectrofluorimetric determination of vitamin D in the serum of autistic and healthy children using functionalized graphene quantum dots. Spectrochim Acta A Mol Biomol Spectrosc;2024 (Jan 3);309:123842.

Vitamin D is one of the most essential nutrients for brain development, and deficiencies during pregnancy and early childhood development might be associated with autism. Regular monitoring of serum 25-hydroxyvitamin D3 level could help in early diagnosis and therapy. Analytical measurement of serum 25-hydroxyvitamin D3 level using the traditional matrix-matched calibration technique yields inaccurate results due to absence of serum matrix free from 25-hydroxyvitamin D3. The aim of this work was to develop a validated spectrofluorimetric methodology based on the standard addition approach for quantifying 25-hydroxyvitamin D3 levels in real serum samples of autistic children. The spectrofluorimetric methodology utilizes functionalized graphene quantum dots as a fluorescent probe for selective quantification of 25-hydroxyvitamin D3 level, which is based on measuring the quenching properties of 25-hydroxyvitamin D3 on a fluorescent probe. The standard addition approach exhibits a minimal matrix interference since it identically utilizes the same matrix of each study sample for creating its own calibration curve. The method was validated using the guidelines outlined in ICH M10 draft for endogenous compounds quantification. The method was successfully applied for quantifying the serum 25-hydroxyvitamin D3 levels in autistic and healthy children, and autistic children had significantly lower serum 25-hydroxyvitamin D3 levels (with a mean ± SD of 23.80 ± 17.19) when compared to healthy children (with a mean ± SD of 50.13 ± 18.74, P < 0.001). These results suggested an association between vitamin D deficiency and autism.

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2. Benitez JR, Kannan S, Hastings WL, Parker BJ, Willbrand EH, Weiner KS. Ventral temporal and posteromedial sulcal morphology in autism spectrum disorder. Neuropsychologia;2024 (Jan 3):108786.

Two parallel research tracks link the morphology of small and shallow indentations, or sulci, of the cerebral cortex with functional features of the cortex and human cognition, respectively. The first track identified a relationship between the mid-fusiform sulcus (MFS) in ventral temporal cortex (VTC) and cognition in individuals with Autism Spectrum Disorder (ASD). The second track identified a new sulcus, the inframarginal sulcus (IFRMS), that serves as a tripartite landmark within the posteromedial cortex (PMC). As VTC and PMC are structurally and functionally different in ASD, here, we integrated these two tracks and tested if there are morphological differences in VTC and PMC sulci in a sample of young (5-17 years old) male participants (50 participants with ASD and 50 neurotypical controls). Our approach replicates and extends recent findings in four ways. First, regarding replication, the standard deviation (STD) of MFS cortical thickness (CT) was increased in ASD. Second, MFS length was shorter in ASD. Third, the CT STD effect extended to other VTC and to PMC sulci. Fourth, additional morphological features of VTC sulci (depth, surface area, gray matter volume) and PMC sulci (mean CT) were decreased in ASD, including putative tertiary sulci, which emerge last in gestation and continue to develop after birth. To our knowledge, this study is the most extensive comparison of the sulcal landscape (including putative tertiary sulci) in multiple cortical expanses between individuals with ASD and NTs based on manually defined sulci at the level of individual hemispheres, providing novel targets for future studies of neurodevelopmental disorders more broadly.

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3. González-Fernández V, Dos-Subirà L. Patients with surgically repaired ASD in childhood: living happily ever after?. Int J Cardiol;2024 (Jan 3):131708.

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4. Martin M, Braillon A. Sperm epigenetic mechanisms in autism spectrum disorders. The valproate case illustrates an enduring and systemic failure. Mol Psychiatry;2024 (Jan 5)

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5. McComas JJ, Kolb R, Girtler S. The Effect of Caregiver-Implemented Training on Augmentative Alternative Communication Use by Individuals with Rett Syndrome: Remote Coaching via Telehealth. Dev Neurorehabil;2024 (Jan 6):1-14.

Limited published literature exists demonstrating functional relations between idiosyncratic responses or augmentative alternative communication (AAC) and social reinforcement for individuals with Rett syndrome. In this study, six females with Rett syndrome ages 2-25 demonstrated requesting for preferred items using both idiosyncratic responses (e.g, looking, reaching) and AAC (e.g. single response microswitches). Researchers connected remotely via telehealth to coach caregivers to implement all sessions in home environments. Researchers individualized response prompt delays during AAC sessions (request/mand training) based on each participants’ latency to respond during baseline. Implications for practice and directions for future research are discussed.

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6. Öztürk ME, Yabanci Ayhan N. The relationship between the severity of intellectual and developmental disabilities (IDDs) in adults with IDDs and eating and drinking problems and nutritional status. J Intellect Disabil Res;2024 (Jan 6)

BACKGROUND: Adults with intellectual and developmental disabilities (IDDs) experience eating, drinking and swallowing problems, such as chewing problems, choking, gagging, coughing during eating, aspiration and rumination syndrome, which may lead to poor nutritional status. This study aimed to determine the relationship between IDD levels, eating, drinking and swallowing problems and nutritional status in adults with IDDs. METHODS: The sample consisted of 71 participants (37 men and 34 women) with a mean age of 22.5 ± 7 years (range 18-60 years). Professionals classified intellectual disability as mild, moderate or severe. The Screening Tool of Feeding Problems scale was applied to the caregivers of adults with IDDs to identify eating, drinking and swallowing problems. Dietary intake was assessed using a 24-h dietary recall and a food and nutrition photograph catalogue. The researchers measured body weight, height and middle upper arm circumference. Body mass index was calculated. Four body mass index categories were determined: underweight (<18.5 kg/m(2) ), normal weight (18.5-24.9 kg/m(2) ), overweight (25.0-29.9 kg/m(2) ) and obese (≥30 kg/m(2) ). Chi-squared tests were used to detect the relationship between IDD levels and eating and drinking problems, and analysis of variance tests were conducted to detect the relationship between IDD levels with anthropometric measurements and dietary intake. RESULTS: Participants had mild (42.3%; n = 30), moderate (29.6%; n = 21) or severe IDD (28.2%; n = 20). They were underweight (12.7%; n = 9), normal weight (59.2%; n = 42) or overweight and/or obese (28.2%; n = 20). Participants with severe IDD had significantly higher Screening Tool of Feeding Problems 'nutrition-related behaviour' and 'eating and drinking skill deficit problem' sub-scale scores than those with mild IDD. However, the groups had no significant difference in 'food refusal and selectivity' sub-scale scores. Participants with severe IDD also had anorexia prevalence similar to those with mild IDD. The groups did not significantly differ in anthropometric measurements, daily energy intake and macronutrient and micronutrient intake. CONCLUSIONS: While adults with severe IDD had more eating and drinking skill deficits (e.g. chewing problems and independent eating difficulties) and nutrition-related behaviour problems than those with mild IDD, the eating, drinking and swallowing problems, which may critically affect their food intake, were similar to adults with mild IDD. The anthropometric measurements and energy and nutrient intakes of adults with severe IDD were not significantly different from those with mild IDD consistently. Findings indicate that nutritional deficiencies and nutritional behaviour problems may be avoidable in adults with IDDs.

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7. Peristeri E, Andreou M. Intellectual development in young children with autism spectrum disorders: A longitudinal study. Autism Res;2024 (Jan 6)

Intelligence profiles in autism have been characterized by great variability. The questions of how autistic children’s intelligence changes over time, and what factors influence these changes deserve study as part of efforts to document child autism profiles, but also because the relationship between intellectual functioning and children’s background characteristics is poorly understood, particularly in a longitudinal context. A total of 39 autistic children and 39 age-matched neurotypical children (5-9 years old) completed two IQ assessments at preschool age and up to 4 years later. Repeated-measures analyses assessed longitudinal changes in the children’s verbal (VIQ), performance (PIQ), and full-scale IQ (FSIQ) at group level. We further sought to identify clusters with distinct profiles in each group by adopting an unsupervised K-means clustering approach, and detect possible between-subgroup differences in terms of children’s socioeconomic status and autism severity. The largest cluster in the autistic group was composed of children whose PIQ significantly dropped at follow-up, while the second largest cluster improved in all quotients; the smallest cluster, wherein children had more highly educated mothers than the rest of the clusters, was characterized by large improvement in VIQ. For the neurotypical children, there was a two-cluster division; the majority of them improved in the three quotients, while very few dropped in PIQ at follow-up. The relation between socioeconomic status and IQ changes was significant for both groups. The findings demonstrate both the complexity of intelligence changes in autism and the need to view this complexity through the lens of the children’s socioeconomic diversity.

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8. Sallam DE, Shaker YS, Mostafa GA, El-Hossiny RM, Taha SI, Ahamed M. Evaluation of serum interleukin-17 A and interleukin-22 levels in pediatric patients with autism spectrum disorder: a pilot study. BMC Pediatr;2024 (Jan 5);24(1):18.

BACKGROUND: Many neurodevelopmental abnormalities are connected to autism spectrum disorder (ASD), which can result in inflammation and elevated cytokine levels due to immune system dysregulation. Interleukin (IL)-17 A and IL-22 have been linked to the regulation of host defense against pathogens at the barrier surface, the regeneration of injured tissue, and the integration of the neurological, endocrine, and immune systems. Several studies have investigated the possible connection between IL-17 A and ASD as well as the severity of behavioral symptoms, but few of them included IL-22. OBJECTIVES: To measure serum levels of interleukin (IL)-17 A and IL-22 in children with ASD and to investigate their association with disease severity. METHODS: This pilot study was performed on 24 children with ASD and 24 matched controls. Childhood Autism Rating Scale (CARS) assessed ASD severity, and serum levels of IL-17 A and IL-22 were assessed by enzyme-linked immunosorbent assay (ELISA). RESULTS: In ASD patients, serum levels of IL-17 A and IL-22 showed a significant increase compared to controls (p-values < 0.001). We compared serum levels of IL-17 A and IL-22 according to the severity categories by CARS and could not find any significant differences (p-values > 0.05). Only IL-22 had a significant positive correlation with ASD severity by CARS scores. CONCLUSIONS: Raised serum levels of IL-17 A and IL-22 are associated with ASD; only IL-22, not IL-17 A, is correlated with ASD severity. This finding proposes IL-22 as a possible future effective target for ASD treatment. To fully comprehend the significance of these cytokines in ASD and their possible effects on ASD diagnosis and treatment, more research on a wider scale is required.

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9. Scherf KS, Griffin JW, Geier CF, Smyth JM. Social visual attention as a treatment outcome: evaluating the social games for autistic adolescents (SAGA) intervention. Sci Rep;2024 (Jan 5);14(1):619.

A core feature of autism involves difficulty perceiving and interpreting eye gaze shifts as nonverbal communicative signals. A hypothesis about the origins of this phenotype is that it emerges from developmentally different social visual attention (SVA). We developed Social Games for Autistic Adolescents (SAGA; Scherf et al. BMJ Open 8(9):e023682, 2018) as a serious game intervention for autistic individuals to discover the significance of eye gaze cues. Previously, we demonstrated the effectiveness of SAGA to improve the perception and understanding of eye gaze cues and social skills for autistic adolescents (Griffin et al. JCPP Adv 1(3):e12041, 2021). Here, we determine whether increases in social visual attention to faces and/or target gazed-at objects, as measured via eye tracking during the same Gaze Perception task in the same study sample, moderated this improvement. In contrast to predictions, SVA to faces did not differentially increase for the treatment group. Instead, both groups evinced a small increase in SVA to faces over time. Second, Prior to the SAGA intervention, attention to faces failed to predict performance in the Gaze Perception task for both the treatment and standard care control groups. However, at post-test, autistic adolescents in the treatment group were more likely to identify the object of directed gaze when they attended longer to faces and longer to target objects. Importantly, this is the first study to measure social visual attention via eye tracking as a treatment response in an RCT for autism. NCT02968225.

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10. Shen Y, Zhao X, Wang K, Sun Y, Zhang X, Wang C, Yang Z, Feng Z, Zhang X. Exploring White Matter Abnormalities in Young Children with Autism Spectrum Disorder: Integrating Multi-shell Diffusion Data and Machine Learning Analysis. Acad Radiol;2024 (Jan 6)

RATIONALE AND OBJECTIVES: This study employed tract-based spatial statistics (TBSS) to investigate abnormalities in the white matter microstructure among children with autism spectrum disorder (ASD). Additionally, an eXtreme Gradient Boosting (XGBoost) model was developed to effectively classify individuals with ASD and typical developing children (TDC). METHODS AND MATERIALS: Multi-shell diffusion weighted images were acquired from 62 children with ASD and 44 TDC. Using the Pydesigner procedure, diffusion tensor (DT), diffusion kurtosis (DK), and white matter tract integrity (WMTI) metrics were computed. Subsequently, TBSS analysis was applied to discern differences in these diffusion parameters between ASD and TDC groups. The XGBoost model was then trained using metrics showing significant differences, and Shapley Additive explanations (SHAP) values were computed to assess the feature importance in the model’s predictions. RESULTS: TBSS analysis revealed a significant reduction in axonal diffusivity (AD) in the left posterior corona radiata and the right superior corona radiata. Among the DK indicators, mean kurtosis, axial kurtosis, and kurtosis fractional anisotropy were notably increased in children with ASD, with no significant difference in radial kurtosis. WMTI metrics such as axonal water fraction, axonal diffusivity of the extra-axonal space (EAS_AD), tortuosity of the extra-axonal space (EAS_TORT), and diffusivity of intra-axonal space (IAS_Da) were significantly increased, primarily in the corpus callosum and fornix. Notably, there was no significant difference in radial diffusivity of the extra-axial space (EAS_RD). The XGBoost model demonstrated excellent classification ability, and the SHAP analysis identified EAS_TORT as the feature with the highest importance in the model’s predictions. CONCLUSION: This study utilized TBSS analyses with multi-shell diffusion data to examine white matter abnormalities in pediatric autism. Additionally, the developed XGBoost model showed outstanding performance in classifying ASD and TDC. The ranking of SHAP values based on the XGBoost model underscored the significance of features in influencing model predictions.

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11. So WC, Wong E, Ng W, Fuego J, Lay S, So MT, Lee YY, Chan WY, Chua LY, Lam HL, Lam WT, Li HM, Leung WT, Ng YH, Wong WT. Seeing through a robot’s eyes: A cross-sectional exploratory study in developing a robotic screening technology for autism. Autism Res;2024 (Jan 6)

The present exploratory cross-sectional case-control study sought to develop a reliable and scalable screening tool for autism using a social robot. The robot HUMANE, installed with computer vision and linked with recognition technology, detected the direction of eye gaze of children. Children aged 3-8 (M = 5.52; N = 199) participated, 87 of whom had been confirmed with autism, 55 of whom were suspected to have autism, and 57 of whom were not considered to cause any concern for having autism. Before a session, a human experimenter instructed HUMANE to narrate a story to a child. HUMANE prompted the child to return his/her eye gaze to the robot if the child looked away, and praised the child when it re-established its eye gaze quickly after a prompt. The reliability of eye gaze detection was checked across all pairs of human raters and HUMANE and reached 0.90, indicating excellent interrater agreement. Using the pre-specified reference standard (Autism Spectrum Quotient), the sensitivity and specificity of the index tests (i.e., the number of robot prompts and duration of inattentiveness) reached 0.88 or above and the Diagnostic Odds Ratios were beyond 190. These results show that social robots may detect atypical eye patterns, suggesting a potential future for screening autism using social robots.

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