1. Arun P, Chavan BS. Survey of autism spectrum disorder in chandigarh, India. The Indian journal of medical research. 2022.

BACKGROUND & OBJECTIVES: Prevalence of autism spectrum disorder (ASD) has been reportedly on the rise in western literature. However, accurate data from India are not available. The present study was planned to assess the community-based prevalence of ASD in Chandigarh, India. METHODS: This study was a two-stage survey of representative child population of Chandigarh using stratified random sampling technique, covering 8820 children between the ages 1.5 and 10 yr. Proportionate population from urban (82.3%), rural (4.3%) and slum area (13.4%) were included in the study and screened using Chandigarh autism screening instrument (CASI). Thirty two children scored above cut-off, of whom two had shifted to other places before they could be assessed and 30 were assessed in detail. Detailed assessment was done using Autism Diagnostic Interview-Revised and Childhood Autism Rating Scale-2; diagnosis was made according to the Diagnostic and Statistical Manual-5. Nineteen were diagnosed with ASD. RESULTS: Of the 8451 children screened between the age group of one and a half to 10yr, 19 (10 boys and 9 girls) were diagnosed as ASD, thus the prevalence of ASD was found to be 2.25 per 1000 (0.69-5.19, 95% confidence interval) children in Chandigarh. No child below the cut-off on the screening instrument was diagnosed as ASD. INTERPRETATION & CONCLUSIONS: The results suggest that the Prevalence of ASD in India is lower than western countries.

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2. Bailey B, Sellwood D, Rillotta F, Raghavendra P, Arciuli J. A trial of online ABRACADABRA literacy instruction with supplementary parent-led shared book reading for children with autism. Research in developmental disabilities. 2022; 124: 104198.

BACKGROUND/AIMS: The COVID-19 pandemic has highlighted the need for accessible support for children with developmental disabilities. This study explored online literacy instruction with supplementary parent-led shared book reading (SBR) for children with autism. METHODS: Twenty-one children with autism (5-12 years) completed a battery of assessments (T1) before being assigned to ability matched Instruction (n = 10) and Control groups (n = 11). Instruction group participants completed 16 h of ABRACADABRA instruction working with a researcher 1:1 online and SBR activities at home with a parent over 8 weeks. All participants were reassessed after the instruction period (T2) and parents of children in the Instruction group were interviewed regarding their views and experiences. RESULTS: Quantitative analyses showed no significant improvements in reading for Instruction group children relative to Control group children. However, each child successfully participated in 16 online instruction sessions and qualitative data revealed that parents were generally positive about the program, with some observing improvements in their child’s literacy skills and reading confidence. CONCLUSIONS AND IMPLICATIONS: While it appears children with autism can participate in online literacy instruction, sixteen hours of online ABRACADABRA instruction with parent-led SBR may not be effective in improving their reading skills. Further research is required to explore whether more intensive and/or extended online instruction may be feasible and effective, and to improve uptake of parent-led book reading activities at home.

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3. Clark-Whitney E, Klein CB, Hadley PA, Lord C, Kim SH. Caregiver Language Input Supports Sentence Diversity in Young Children With Autism Spectrum Disorder. Journal of speech, language, and hearing research : JSLHR. 2022; 65(4): 1465-77.

PURPOSE: Sentence diversity is a measure of early language development that has yet to be applied to individuals with autism spectrum disorder (ASD). The primary aim of this study was to identify whether children with ASD show change in sentence diversity over 6 months of treatment with Naturalistic Developmental Behavioral Intervention (NDBI). The secondary aim was to examine possible predictors of changes in children’s sentence diversity, including caregiver use of NDBI strategies, naturally occurring instances of caregiver Toy Talk, and child characteristics. METHOD: Fifty children with ASD (ages 2-4 years) and their caregivers, who were receiving NDBI, engaged in two 10-min video-recorded play interactions, 6 months apart. Child speech was transcribed and coded for sentence diversity. Caregiver input was transcribed and coded for naturally occurring Toy Talk. Zero-inflated negative binomial mixed models were used to explore predictors of change in child sentence diversity. RESULTS: Children’s sentence diversity improved over time. Changes in caregiver NDBI strategy use and caregiver baseline Toy Talk were significant predictors of changes in sentence diversity, as were baseline age, nonverbal ratio IQ, and child sex. Additionally, a significant interaction of caregiver baseline Toy Talk and change in caregiver NDBI strategies emerged; the effect of caregiver baseline Toy Talk on children’s sentence diversity change was stronger when NDBI strategy use improved. CONCLUSIONS: Sentence diversity is a developmentally sensitive measure of language development in ASD. NDBI strategies that facilitate reciprocal social communication, combined with input composed of declarative sentences with noun or third-person pronoun subjects, may provide optimal support for children’s sentence development.

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4. Curtin P, Neufeld J, Curtin A, Arora M, Bölte S. Altered Periodic Dynamics in the Default Mode Network in Autism and Attention-Deficit/Hyperactivity Disorder. Biological psychiatry. 2022.

BACKGROUND: Altered resting-state functional connectivity in the default mode network (DMN) is characteristic of both autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). Standard analytical pipelines for resting-state functional connectivity focus on linear correlations in activation time courses between neural networks or regions of interest. These features may be insensitive to temporally lagged or nonlinear relationships. METHODS: In a twin cohort study comprising 292 children, including 52 with a diagnosis of ASD and 70 with a diagnosis of ADHD, we applied nonlinear analytical methods to characterize periodic dynamics in the DMN. Using recurrence quantification analysis and related methods, we measured the prevalence, duration, and complexity of periodic processes within and between DMN regions of interest. We constructed generalized estimating equations to compare these features between neurotypical children and children with ASD and/or ADHD while controlling for familial relationships, and we leveraged machine learning algorithms to construct models predictive of ASD or ADHD diagnosis. RESULTS: In within-pair analyses of twins with discordant ASD diagnoses, we found that DMN signal dynamics were significantly different in dizygotic twins but not in monozygotic twins. Considering our full sample, we found that these patterns allowed a robust predictive classification of both ASD (81.0% accuracy; area under the curve = 0.85) and ADHD (82% accuracy; area under the curve = 0.87) cases. CONCLUSIONS: These findings indicate that synchronized periodicity among regions comprising the DMN relates both to neurotypical function and to ASD and/or ADHD, and they suggest generally that a dynamical analysis of network interconnectivity may be a useful methodology for future neuroimaging studies.

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5. Hunsche MC, Cervin M, Storch EA, Kendall PC, Wood JJ, Kerns CM. Social functioning and the presentation of anxiety in children on the autism spectrum: A multimethod, multiinformant analysis. Journal of psychopathology and clinical science. 2022; 131(2): 198-208.

Co-occurring anxiety in children on the autism spectrum is associated with greater social challenges, including poorer social skills and relationships, which may influence the severity and presentation of anxiety symptoms, particularly social anxiety. The current study used Bayesian network analytics (Williams & Mulder, 2020) and a multimethod approach to examine (a) how different facets of social functioning relate to one another and to anxiety severity and comorbidity, (b) which facet(s) are most influential and thus may represent optimal targets for intervention, and (c) how social functioning relates to the presentation of social fears in a large treatment-seeking sample of autistic children with anxiety disorders (n = 191, 7-13 years). Results indicated strong associations among measures of social ability (i.e., theory of mind [ToM], social motivation, friendship attainment) and among measures of social integration (i.e., bullying, interpersonal and peer difficulties), with only bullying demonstrating a significant association with anxiety. ToM was the most interconnected variable in the network, and social motivation demonstrated the strongest individual connections with other variables, particularly with other facets of social ability. Socially anxious children with impaired ToM were less likely to express fears of negative evaluation, resulting in a distinct diagnostic presentation of social fears. Findings suggest that social motivation and ToM may represent important targets for intervention for autistic children with co-occurring anxiety. Further, social-cognitive difficulties associated with autism, like ToM, may play a role in distinct manifestations of anxiety in these youth. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

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6. McKernan EP, Kumar M, Di Martino A, Shulman L, Kolevzon A, Lord C, Narayanan S, Kim SH. Intra-topic latency as an automated behavioral marker of treatment response in autism spectrum disorder. Scientific reports. 2022; 12(1): 3255.

Data science advances in behavioral signal processing and machine learning hold the promise to automatically quantify clinically meaningful behaviors that can be applied to a large amount of data. The objective of this study was to identify an automated behavioral marker of treatment response in social communication in children with autism spectrum disorder (ASD). First, using an automated computational method, we successfully derived the amount of time it took for a child with ASD and an adult social partner (N pairs = 210) to respond to each other while they were engaged in conversation bits (« latency ») using recordings of brief, natural social interactions. Then, we measured changes in latency at pre- and post-interventions. Children with ASD who were receiving interventions showed significantly larger reduction in latency compared to those who were not receiving interventions. There was also a significant group difference in the changes in latency for adult social partners. Results suggest that the automated measure of latency derived from natural social interactions is a scalable and objective method to quantify treatment response in children with ASD.

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7. Palomo R, Ozonoff S, Young GS, Belinchón Carmona M. Social orienting and initiated joint attention behaviors in 9 to 12 month old children with autism spectrum disorder: A family home movies study. Autism research : official journal of the International Society for Autism Research. 2022.

According to the Social Motivation model children with autism show deficits in social orienting (looking at faces and responding to name) at the end of their first year of life. In this model, those deficits are both the earliest behavioral consequences of an alteration in the dopamine reward system balance and the foundation of the social impairments that characterize this neurodevelopmental disorder. The current study tests two of the main predictions of this model: that social orienting deficits are the first behavioral manifestation of autism, and that they are developmentally related to joint attention deficits. We retrospectively analyzed family home movies of 9- to 12-month-old infants, 29 of whom were later diagnosed with autism and 16 of whom were typically developing. After confirming that the videotapes of both groups were similar in content of the scenes recorded (contexts, type of social activity, etc.), we compared their social orienting (social gaze and responding to name) and joint attention behaviors (gaze alternation and gestures). No significant differences between groups were found in looking at faces, but the group with autism showed deficits in responding to name and initiations of joint attention (IJA). Looking at people was not significantly correlated with IJA behaviors, but response to name was. The lack of group differences in looking at faces between 9 and 12 months, and the existence of IJA difficulties in the ASD group without concurrent impairment in looking at faces, do not support predictions of the Social Motivation model. LAY SUMMARY: Various theories have been proposed to explain the emergence of autism symptoms early in life. This study tested two key predictions of the Social Motivation model. Comparing family movies of children 9- to 12-months-old later diagnosed with autism or with typical development, we did not observe difficulties in looking at other people’s faces but children with autism responded to name and used gaze and gestures to direct the adult’s attention to events of interest less frequently. This absence of difficulties in looking at faces does not fit with what the Social Motivation model of autism predicts and therefore we must develop alternative explanations.

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8. Salah A, Almannai M, Al Ojaimi M, Radefeldt M, Gulati N, Iqbal M, Alawbathani S, Al-Ali R, Beetz C, El-Hattab AW. A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features. Clinical genetics. 2022; 101(5-6): 565-70.

We report four children from three related families who presented with a similar phenotype characterized by developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, and genitourinary malformations. They also shared common facial features including arched eyebrows, prominent eyes, broad nasal bridge, low-hanging columella, open mouth, thick lower lip, protruding tongue, large low-set ears, and parietal bossing. Exome sequencing for affected individuals revealed a homozygous frame-shift variant, c.1833del; p.(Thr612Glnfs*22), in PROSER1 which encodes the proline and serine rich protein 1 (PROSER1). PROSER1 has recently been found to be part of the histone methyltransferases KMT2C/KMT2D complexes. PROSER1 stabilizes TET2, a member of the TET family of DNA demethylases which is involved in recruiting the enhancer-associated KMT2C/KMT2D complexes and mediating DNA demethylation, activating gene expression. Therefore, PROSER1 may play vital and potentially general roles in gene regulation, consistent with the wide phenotypic spectrum observed in the individuals presented here. The consistent phenotype, the loss-of-function predicted from the frame-shift, the co-segregation of the phenotype in our large pedigree, the vital role of PROSER1 in gene regulation, and the association of related genes with neurodevelopmental disorders argue for the loss of PROSER1 to be the cause for a novel recognizable syndrome.

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9. Slomski A. Screening in Early Intervention Increases Autism Diagnoses. Jama. 2022; 327(9): 804.

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10. Vallefuoco E, Bravaccio C, Gison G, Pecchia L, Pepino A. Personalized Training via Serious Game to Improve Daily Living Skills in Pediatric Patients with Autism Spectrum Disorder. IEEE journal of biomedical and health informatics. 2022; Pp.

The majority of people with Autism Spectrum Disorder (ASD) exhibit difficulties in social communication and behavior, which hinder their learning capability, amid others. Among technological solutions for people with ASD, serious games are frequently used to enhance learning of specific skills and instructional contents. However, because of heterogeneity in applications and game design, few studies have investigated their use in training daily activities. This paper presents a 3D personalized serious game we developed and validated to help ASD patients practice with shopping activities. Personalized training is paramount in people with ASD, thus several elements of this game were personalized to improve engagement and therefore the effectiveness of the virtual training. In order to assess the validity of the game, ten subjects (age 11.9 2.7, 20% female) with ASD played ten sessions of the serious game, once per week. The participants underwent a real-life experience pre- and post-training in a real-life supermarket. Changes in daily living skills among participants were evaluated through specific tools: a form based on the International Classification of Functioning, Disability and Health for Children and Youth; and the Vineland Adaptive Behavior Scale II. Significant improvements (p<0.05) were detected in the main skills trained with the serious game, especially in learning the shopping procedure, directing attention, and problem-solving skills. These findings suggest that personalized serious games can represent a prominent tool to enhance daily living skills, but future work should clinically validate their efficacy.

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11. Wilde VK. Neonatal Jaundice and Autism: Precautionary Principle Invocation Overdue. Cureus. 2022; 14(2): e22512.

Meta-analyses consistently find a substantial possible association between neonatal jaundice (hyperbilirubinemia) and later autism risk. The obvious question this poses is « what is the source of this risk? » This review explores the complementary roles of jaundice severity and time, racial and geographic disparities, and early infant feeding regime change, and discusses potential implications of these findings. A range of factors appears to increase the risk of autism development following neonatal jaundice, all of which are associated with the « exclusive breastfeeding » paradigm. Severity presents an intuitive risk factor in the context of bilirubin neurotoxicity; jaundice from the modal root cause of insufficient milk intake progresses as that condition persists. Racial and geographic disparities present another intuitive set of risk factors, including a heightened risk of missed diagnosis for darker-skinned neonates and delayed care access in poorer settings. In addition to these intuitive factors, near- or full-term as opposed to preterm status and phototherapy treatment may also heighten risk. These counter-intuitive findings provide additional support for deprivation/starvation as a crucial antecedent or independent variable, and time as a mediator to progression in and subsequent risk from jaundice; heightened medical monitoring and supplementation seem to protect preterms, and phototherapy risks iatrogenesis, having replaced without sufficient safety evidence the prior standard treatment of switching jaundiced, breastfed babies to formula. Critically, jaundice associated with insufficient milk intake due to breastfeeding insufficiencies is fully preventable and trivially treatable with appropriate supplemental milk. Feeding neonates adequately may play an important role in preventing autism and other neurodevelopmental disorders including attention deficit hyperactivity disorder, cerebral palsy, epilepsy, hearing impairment, learning disorders, and mood disorders. Precautionary principle invocation is overdue.

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12. Wolfe ID, Brunnquell D, Sorensen R, Matheny Antommaria AH. Should Tactile Defensiveness Exclude a Life-Sustaining Intervention in an Adolescent With Autism?. Pediatrics. 2022; 149(3).

This Ethics Rounds considers the benefits and burdens of a potentially temporary tracheostomy in an adolescent with autism and severe tactile defensiveness.

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13. Wu H, Luan Y, Wang H, Zhang P, Liu S, Wang P, Cao Y, Sun H, Wu L. Selenium inhibits ferroptosis and ameliorates autistic-like behaviors of BTBR mice by regulating the Nrf2/GPx4 pathway. Brain research bulletin. 2022; 183: 38-48.

BACKGROUND: Autism spectrum disorder (ASD) is a group of extensive neurodevelopmental disorders for which few efficacious drugs are available. Sodium selenite (Se), the most common inorganic form of selenium given to humans and animals, has antioxidant, anti-inflammatory, and neuroprotective effects in several psychiatric and neurological disorders. However, the effect of Se on ASD is unclear. METHODS: Using the BTBR T + tf/J (BTBR) mouse model of ASD, we investigated the therapeutic effects and underlying mechanism of action of Se on ASD. BTBR mice were randomly divided into four groups: BTBR, BTBR+Se, BTBR+Se+ML385, and BTBR+Se+RSL3. The normal control group was composed of C57BL/6 (B6) mice. Se, Nuclear factor erythroid 2-related factor 2 (Nrf2), and glutathione peroxidase 4 (GPx4) inhibitors were administered separately for 28 days using oral gavage. After 28 days, social behavior, ferroptosis indices, and gene and protein expression levels for components of the Nrf2/GPx4 pathway were assessed to explore the correlation between Se levels and ASD. RESULTS: We demonstrated that Se significantly mitigated impairments in learning and memory, improved social functions, reduced repetitive behaviors, and inhibited ferroptosis in the CA1 area of the hippocampus. We also found that the Nrf2/GPX4 pathway was a target for Se. Treatment with Se increased levels of Nrf2 and GPX4. The Nrf2 inhibitor ML385 reduced the effect of Se on ferroptosis and abnormal behaviors in BTBR mice. In addition, the GPx4 inhibitor RSL3 revealed similar efficacy to ML385 CONCLUSION: We determined that Se exhibited a beneficial effect on autism-relevant behaviors and inhibited ferroptosis in the BTBR mouse model of ASD, possibly through modulation of the Nrf2/GPX4 signaling pathway.

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14. Zhao M, Chang Q, Yang H, Wang M, Liu Y, Lv N, Lei Q, Wei H. Epothilone D Modulates Autism-like Behaviors in the BTBR Mouse Model of Autism Spectrum Disorder. Neuroscience. 2022; 490: 171-81.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder, characterized by impaired social communication, abnormal repetitive behaviors and restricted interests and/or sensory behaviors. It has been widely accepted that ASD involves a complex interplay of both genetic and environmental risk factors. Existing medications are only symptomatic treatments, there are no effective treatments that can improve these core social behavior deficits. Recent studies indicated that synaptic development and abnormal myelination are linked to the pathogenesis of ASD. The stable tubule only polypeptide (STOP) protein, also known as microtubule-associated protein 6, plays an important role in neuronal development and synaptic plasticity. Our previous studies showed that STOP protein was significantly reduced in the plasma of autistic subjects and in the cortex of BTBR T(+) Itpr3(tf) (BTBR) mouse model of ASD. Furthermore, studies have shown that Epothilone D, a taxol-like microtubule-stabilizing agent, could alleviate behavioral and synaptic deficits in STOP-null mice. Here, we further evaluate whether Epothilone D treatment is sufficient to modulate the autism-like behaviors in the BTBR mice, and explore the underlying mechanism. BTBR mice were treated either with Epothilone D dissolved in 99% dimethyl sulfoxide (DMSO) or with 99% DMSO vehicle. Our studies demonstrated that the restricted and repetitive behaviors of BTBR mice were improved after Epothilone D treatment, which could be achieved by improving microtubule stability and further regulating the expression of excitatory synapse-related and myelin-related proteins. These results indicate that microtubule stability may be a new and promising therapeutic target for treating patients with ASD.

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15. Zisman-Ilani Y. The Mental Health Crisis of Individuals With Intellectual and Developmental Disabilities. Psychiatric services (Washington, DC). 2022; 73(3): 245-6.

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