1. Ashwood P. Though shall not pass: Blocking lymphocytes from recirculating to the gut as a potential therapeutic approach for autism. Brain Behav Immun;2023 (Dec 28);116:402-403.

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2. Damiao J, Damiao G, Cavaliere C, Dunscomb S, Ekelund K, Lago R, Volpe A. Parent Perspectives on Assisted Communication and Autism Spectrum Disorder. Am J Occup Ther;2024 (Jan 1);78(1)

IMPORTANCE: Parents of nonspeaking children with autism spectrum disorder (ASD) may present with complex challenges associated with communicating with their children. OBJECTIVE: To explore the firsthand experiences of parents of children with ASD who use assisted communication (AC) to communicate, which has yet to be explored in the literature. DESIGN: Semistructured interviews with ten parents of individuals with ASD, age 15 to 36 yr, who use AC to communicate. RESULTS: Analysis of the data revealed four superordinate themes, each with two subthemes: (1) Relationship (subthemes: Involving the Child, Improved Relationship), (2) Future (subthemes: Hopes and Dreams, Planning), (3) Support (subthemes: Limited Availability of Service Providers, Underestimation), and (4) Understanding (subthemes: Communication, Understanding of the Child). The themes illustrated that using AC modalities improved the parent-child relationship (Relationship) and helped parents understand their child on a deeper level (Understanding). A positive outcome of having a new means of communication with their child was that parents could better plan for a future that reflects their child’s innermost hopes and dreams (Future). Parents also reported that the lack of a consensus concerning using AC with nonspeaking children led to decreased support (Support) from professionals and educators, limiting the child’s opportunities. CONCLUSIONS AND RELEVANCE: This study provides phenomenological qualitative evidence that use of AC provides benefits to the parent-child relationship. Plain-Language Summary: This study investigated the lived experience of parents of children with autism spectrum disorder (ASD) and how the use of assisted communication (AC) affected their relationship with their child. Ten parents were interviewed. Four main topics emerged from the analysis of these interviews: (1) improved closeness in relationship, (2) improved ability to plan for the future, (3) wish for improved availability of service providers, and (4) improved understanding of who the child is as a person. Parents play a key role as team members in support of the child’s performance in occupations. The results of this study suggest that AC plays an important role in supporting the parent-child relationship; therefore, AC programs should be considered when implementing and planning occupational therapy treatments for individuals who have communication impairments.

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3. Dell’Osso L. Author’s response to commentary on « Autistic traits distribution in different psychiatric conditions: A cluster analysis on the basis of the adult autism subthreshold spectrum (AdAS Spectrum) questionnaire ». Psychiatry Res;2023 (Dec 22);332:115670.

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4. Kadak MT, Serdengeçti N, Seçen Yazıcı M, Sandıkçı T, Aydın A, Koyuncu Z, Meral Y, Haşimoğlu A, Çalışkan Y, Bayraktar G, Can Öztürk E, Gökler ME, Choueiri R, Tarakçıoğlu MC. Turkish Validation of the Rapid Interactive Screening Test for Autism in Toddlers. Autism;2023 (Dec 28):13623613231217801.

It is important to diagnose autism spectrum disorder at an early age and to start an early intervention program without delay. In this study, we aimed to validate the Rapid Interactive Screening Test for Autism in Toddlers (RITA-T) in a group of Turkish children and found that the RITA-T which has been shown to be a valid and reliable screening test for 18- to 36-month-old children in studies conducted in different countries, is also valid in Turkish children. Similar to previous studies, our results showed that the RITA-T has good sensitivity and specificity in distinguishing children with autism spectrum disorder. We think that our study will contribute to the timely initiation of early intervention programs for many children with autism by enabling a valid test to be used in screening programs.

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5. Koc E, Kalkan H, Bilgen S. Autism Spectrum Disorder Detection by Hybrid Convolutional Recurrent Neural Networks from Structural and Resting State Functional MRI Images. Autism Res Treat;2023;2023:4136087.

This study aims to increase the accuracy of autism spectrum disorder (ASD) diagnosis based on cognitive and behavioral phenotypes through multiple neuroimaging modalities. We apply machine learning (ML) algorithms to classify ASD patients and healthy control (HC) participants using structural magnetic resonance imaging (s-MRI) together with resting state functional MRI (rs-f-MRI and f-MRI) data from the large multisite data repository ABIDE (autism brain imaging data exchange) and identify important brain connectivity features. The 2D f-MRI images were converted into 3D s-MRI images, and datasets were preprocessed using the Montreal Neurological Institute (MNI) atlas. The data were then denoised to remove any confounding factors. We show, by using three fusion strategies such as early fusion, late fusion, and cross fusion, that, in this implementation, hybrid convolutional recurrent neural networks achieve better performance in comparison to either convolutional neural networks (CNNs) or recurrent neural networks (RNNs). The proposed model classifies subjects as autistic or not according to how functional and anatomical connectivity metrics provide an overall diagnosis based on the autism diagnostic observation schedule (ADOS) standard. Our hybrid network achieved an accuracy of 96% by fusing s-MRI and f-MRI together, which outperforms the methods used in previous studies.

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6. Kokaua J, Kolose-Pulefolau B, Ruhe T, Aldridge F, Foliaki S, Kokaua L, Mapusua T, Dacombe J, Richards R, Blakelock R, Bowden N. Is parent education a factor in identifying autism/takiwātanga in an ethnic cohort of Pacific children in Aotearoa, New Zealand? A national cross-sectional study using linked administrative data. Autism;2023 (Dec 28):13623613231217800.

Previous studies of autism in Aotearoa, New Zealand, suggest that fewer Pacific children receive an autism diagnosis compared to European children. This study aimed to explore if formal education qualification of parents is related to receiving an autism diagnosis for their Pacific child. Our findings show that autism was identified in 1.1% of Pacific children compared with 1.6% among non-Māori, non-Pacific children. Parents with higher levels of education were more likely to receive an autism diagnosis for their Pacific child. While the study findings indicate education plays a positive role in receiving a diagnosis for autistic children, they suggest a systemic failure of supporting Pacific parents and communities to navigate the health and education systems that exist in Aotearoa, New Zealand.

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7. Melillo RJ, Leisman G, Machado C, Carmeli E. Identification and reduction of retained primitive reflexes by sensory stimulation in autism spectrum disorder: effects on qEEG networks and cognitive functions. BMJ Case Rep;2023 (Dec 28);16(12)

Several authors have reported finding retained primitive reflexes (RPRs) in individuals with autism spectrum disorders (ASD). This case report describes the reduction of RPRs and changes in cognitive function after transcutaneous electrical nerve stimulation (TENS) of muscle. Three individuals were examined in a study at the Institute for Neurology and Neurosurgery in Havana, Cuba. Two child neurologists, not involved in the study, conducted clinical examinations on each participant and diagnosed each with ASD based on DSM-V criteria and the Autism Diagnostic Interview-Revised (an autism evaluation tool). Each child with ASD possessed a triad of impairments in three domains: social interaction, communication, and repetitive behaviour. Individuals were evaluated by quantitative electroencephalographic measures and tested by standardised cognitive function tests before and after 12 weeks of intervention. These interventions were associated with reduced ASD symptoms in the three domains, significant changes in qEEG network connectivity and significantly improved performance on standardised cognitive tests.

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8. Nahas LD, Datta A, Alsamman AM, Adly MH, Al-Dewik N, Sekaran K, Sasikumar K, Verma K, Doss GPC, Zayed H. Genomic insights and advanced machine learning: characterizing autism spectrum disorder biomarkers and genetic interactions. Metab Brain Dis;2023 (Dec 28)

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by altered brain connectivity and function. In this study, we employed advanced bioinformatics and explainable AI to analyze gene expression associated with ASD, using data from five GEO datasets. Among 351 neurotypical controls and 358 individuals with autism, we identified 3,339 Differentially Expressed Genes (DEGs) with an adjusted p-value (≤ 0.05). A subsequent meta-analysis pinpointed 342 DEGs (adjusted p-value ≤ 0.001), including 19 upregulated and 10 down-regulated genes across all datasets. Shared genes, pathogenic single nucleotide polymorphisms (SNPs), chromosomal positions, and their impact on biological pathways were examined. We identified potential biomarkers (HOXB3, NR2F2, MAPK8IP3, PIGT, SEMA4D, and SSH1) through text mining, meriting further investigation. Additionally, ‎we shed light on the roles of RPS4Y1 and KDM5D genes in neurogenesis and neurodevelopment. Our analysis detected 1,286 SNPs linked to ASD-related conditions, of which 14 high-risk SNPs were located on chromosomes 10 and X. We highlighted potential missense SNPs associated with FGFR inhibitors, suggesting that it may serve as a promising biomarker for responsiveness to targeted therapies. Our explainable AI model identified the MID2 gene as a potential ASD biomarker. This research unveils vital genes and potential biomarkers, providing a foundation for novel gene discovery in complex diseases.

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9. Ochi K, Kojima M, Ono N, Kuroda M, Owada K, Sagayama S, Yamasue H. Objective assessment of autism spectrum disorder based on performance in structured interpersonal acting-out tasks with prosodic stability and variability. Autism Res;2023 (Dec 27)

In this study, we sought to objectively and quantitatively characterize the prosodic features of autism spectrum disorder (ASD) via the characteristics of prosody in a newly developed structured speech experiment. Male adults with high-functioning ASD and age/intelligence-matched men with typical development (TD) were asked to read 29 brief scripts aloud in response to preceding auditory stimuli. To investigate whether (1) highly structured acting-out tasks can uncover the prosodic of difference between those with ASD and TD, and (2) the prosodic stableness and flexibleness can be used for objective automatic assessment of ASD, we compared prosodic features such as fundamental frequency, intensity, and mora duration. The results indicate that individuals with ASD exhibit stable pitch registers or volume levels in some affective vocal-expression scenarios, such as those involving anger or sadness, compared with TD and those with TD. However, unstable prosody was observed in some timing control or emphasis tasks in the participants with ASD. Automatic classification of the ASD and TD groups using a support vector machine (SVM) with speech features exhibited an accuracy of 90.4%. A machine learning-based assessment of the degree of ASD core symptoms using support vector regression (SVR) also had good performance. These results may inform the development of a new easy-to-use assessment tool for ASD core symptoms using recorded audio signals.

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10. Riccioni A, Siracusano M, Arturi L, Scoppola C, Ferrara M, Frattale I, Galasso C, Gialloreti LE, Mazzone L. Short report: Autistic symptoms in Sotos syndrome, preliminary results from a case-control study. Res Dev Disabil;2023 (Dec 26);145:104655.

BACKGROUND: An extremely heterogeneous neuropsychological phenotype has been reported in Sotos Syndrome (SoS), including socio-communicative and behavioral difficulties referred to Autism Spectrum Disorder (ASD). Nonetheless, to date, only few data are available on the topic. AIM: To investigate ASD symptoms within a sample of children with SoS in comparison to a matched control group of individuals with idiopathic ASD. METHODS: A convenience sample of SoS (n = 33, age: 9.8 ± 4.1) and ASD (n = 33, age: 9.9 ± 4.1), was included. Autistic symptoms’ assessment was performed through the administration of the Autism Diagnostic Observation Schedule-Second Edition- ADOS-2, the Social Responsiveness Scale -SRS and the Social Communication Questionnaire-SCQ. RESULTS: 72.7% of SoS children presented mild to moderate levels of ASD symptoms as measured by the ADOS-2. Oneway ANOVA analysis showed that SoS individuals presenting lower IQ demonstrated higher ASD symptom’s level (p = 0.01). No statistically significant differences emerged between the SoS and ASD groups within the SRS total score domain (p = 0.95). CONCLUSIONS AND IMPLICATIONS: Our results support the evidence for an increased risk for ASD in SoS, suggesting that the ASD symptoms’ assessment should be regularly performed in SoS children, with subsequent important implications in terms of therapeutic strategies and later outcome.

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11. Schamiloglu S, Wu H, Zhou M, Kwan AC, Bender KJ. Dynamic Foraging Behavior Performance Is Not Affected by Scn2a Haploinsufficiency. eNeuro;2023 (Dec);10(12)

Dysfunction in the gene SCN2A, which encodes the voltage-gated sodium channel Na(v)1.2, is strongly associated with neurodevelopmental disorders including autism spectrum disorder and intellectual disability (ASD/ID). This dysfunction typically manifests in these disorders as a haploinsufficiency, where loss of one copy of a gene cannot be compensated for by the other allele. Scn2a haploinsufficiency affects a range of cells and circuits across the brain, including associative neocortical circuits that are important for cognitive flexibility and decision-making behaviors. Here, we tested whether Scn2a haploinsufficiency has any effect on a dynamic foraging task that engages such circuits. Scn2a (+/-) mice and wild-type (WT) littermates were trained on a choice behavior where the probability of reward between two options varied dynamically across trials and where the location of the high reward underwent uncued reversals. Despite impairments in Scn2a-related neuronal excitability, we found that both male and female Scn2a (+/-) mice performed these tasks as well as wild-type littermates, with no behavioral difference across genotypes in learning or performance parameters. Varying the number of trials between reversals or probabilities of receiving reward did not result in an observable behavioral difference, either. These data suggest that, despite heterozygous loss of Scn2a, mice can perform relatively complex foraging tasks that make use of higher-order neuronal circuits.

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12. Schiltz H, Gohari D, Park J, Lord C. A longitudinal study of loneliness in autism and other neurodevelopmental disabilities: Coping with loneliness from childhood through adulthood. Autism;2023 (Dec 28):13623613231217337.

We know that many autistic people feel lonely, but we don’t know whether their loneliness changes over time. Our research study followed autistic people and people with other non-spectrum neurodevelopmental disabilities from childhood through young adulthood and asked them about their loneliness. While many people told us they felt lonely or very lonely, a sizable group also told us that they do not feel lonely. We found that people who reported feeling lonely earlier in life were likely to also report feeling lonely later in life. Overall, autistic people and people with other neurodevelopmental disabilities in our study became lonelier from adolescence to adulthood. People described multiple ways they cope with feeling lonely, such as distracting themselves or reaching out to connect with another person. People who used distraction tended to be lonelier than those who did not. Our findings tell us that there is a need for greater support of social connections for many autistic people as they become adults.

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13. Settanni M, Suma K, Adamson LB, McConachie H, Servili C, Salomone E. Treatment mechanism of the WHO caregiver skills training intervention for autism delivered in community settings. Autism Res;2023 (Dec 27)

This study examined the mechanism of effect of the WHO Caregiver Skills Training (CST) through secondary analysis of a pilot RCT conducted in community settings. Participants were 86 caregivers (77% mothers) of children with ASD (78% male, mean age: 44.8 months) randomized to CST (n = 43) or treatment as usual (n = 43). The primary outcomes, measured at baseline (t1), immediately post-intervention (t2), and 3 months post-intervention (t3), were derived from the coding of caregiver-child free play interactions with the Brief Observation of Social-Communication Change (BOSCC) and the Joint Engagement Rating Inventory scale (JERI). At t3 positive treatment main effects had been observed for caregiver skills supportive of the interaction and for flow of the interaction (JERI), albeit only non-significant changes in the expected direction for child outcomes: autism phenotypic behaviors (BOSCC), joint engagement and availability to interact (JERI). This study tested the theory of change of CST, hypothesizing that the intervention would lead to an improvement on all child and dyad outcomes through an increase in the caregiver skills supportive of the interaction. Serial mediation analyses revealed that the effect of the intervention was significantly influenced by change in caregiver skills. Participation in the intervention led to notable increases in caregiver skills at t2 and t3, which subsequently contributed to improvements at t3 in flow of the interaction, autism phenotypic behavior, joint engagement, and availability to interact. We confirmed our a priori hypothesis showing that change in caregiver skills significantly mediated the effect of treatment on the dyad primary outcome, as well as on the other child outcomes that had shown non-significant changes in the expected direction. Implications for intervention design and policy making in the context of public health services are discussed.

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14. Smith M, Cameron L, Ferguson HJ. Scene construction ability in neurotypical and autistic adults. Autism;2023 (Dec 28):13623613231216052.

People with autism spectrum conditions (ASC) have difficulties imagining events, which might result from difficulty mentally generating and maintaining a coherent spatial scene. This study compared this scene construction ability between autistic (N = 55) and neurotypical (N = 63) adults. Results showed that scene construction was diminished in autistic compared to neurotypical participants, and participants with fewer autistic traits had better scene construction ability. ASC diagnosis did not influence the frequency of mentions of the self or of sensory experiences. Exploratory analysis suggests that scene construction ability is associated with the ability to understand our own and other people’s mental states, and that these individual-level preferences/cognitive styles can overrule typical group-level characteristics.

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15. Wittwer J, Hans S, Voss T. Inclusion of autistic students in schools: Knowledge, self-efficacy, and attitude of teachers in Germany. Autism;2023 (Dec 28):13623613231220210.

Nowadays, autistic students are often enrolled in mainstream schools. To successfully include autistic students in general education, teachers need to possess knowledge about autism, feel competent in teaching autistic students, and have a positive attitude toward their inclusion. However, in Germany, little is known about the knowledge, the self-efficacy, and the attitude concerning autism among teachers working at mainstream schools. Therefore, we conducted a study in which we used items to assess knowledge, self-efficacy, and attitude. A total of 887 general education teachers participated in the study. The results showed that the level of knowledge about autism was moderate among teachers. Similarly, teachers did not hold overwhelmingly high self-efficacy beliefs. However, their attitude toward inclusion of autistic students was rather positive. At the same time, teachers who had experience with teaching autistic students possessed more knowledge and higher self-efficacy than teachers who had no experience with teaching autistic students. In addition, female teachers were more knowledgeable about autism and felt more competent in teaching autistic students than male teachers. In contrast, knowledge, self-efficacy, and attitude were rather similar among teachers from different types of schools. The findings suggest that teachers in Germany should possess more knowledge about autism and feel more competent in teaching autistic students. Therefore, it is important to systematically include autism trainings in teacher education programs.

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