1. Bardhan M, Polavarapu K, Bevinahalli NN, Preethish-Kumar V, Anjanappa RM, Arunachal G, Shingavi L, Vengalil S, Nashi S, Chawla T, Nagabushana D, Mohan D, Horvath R, Nishino I, Nalini A. Correction: Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome. Journal of human genetics. 2021; 66(8): 841.

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2. Barnes JA, Park CH, Howard A, Jeon M. Child-Robot Interaction in a Musical Dance Game: An Exploratory Comparison Study between Typically Developing Children and Children with Autism. International journal of human-computer interaction. 2021; 37(3): 249-66.

Using robots in therapy for children on the autism spectrum is a promising avenue for child-robot interaction, and one that has garnered significant interest from the research community. After preliminary interviews with stakeholders and evaluating music selections, twelve typically developing (TD) children and three children with Autism Spectrum Disorder (ASD) participated in an experiment where they played the dance freeze game to four songs in partnership with either a NAO robot or a human partner. Overall, there were significant differences between TD children and children with ASD (e.g., mimicry, dance quality, & game play). There were mixed results for TD children, but they tended to show greater engagement with the researcher. However, objective results for children with ASD showed greater attention and engagement while dancing with the robot. There was little difference in game performance between partners or songs for either group. However, upbeat music did encourage greater movement than calm music. Using a robot in a musical dance game for children with ASD appears to show the advantages and potential just as in previous research efforts. Implications and future research are discussed with the results.

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3. Bhat A, Kaznica S. Commentary on « The Effectiveness of Serial Casting and Ankle Foot Orthoses in Treating Toe Walking in Children With Autism Spectrum Disorder ». Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association. 2021; 33(2): 91.

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4. Caly H, Rabiei H, Coste-Mazeau P, Hantz S, Alain S, Eyraud JL, Chianea T, Caly C, Makowski D, Hadjikhani N, Lemonnier E, Ben-Ari Y. Machine learning analysis of pregnancy data enables early identification of a subpopulation of newborns with ASD. Scientific reports. 2021; 11(1): 6877.

To identify newborns at risk of developing ASD and to detect ASD biomarkers early after birth, we compared retrospectively ultrasound and biological measurements of babies diagnosed later with ASD or neurotypical (NT) that are collected routinely during pregnancy and birth. We used a supervised machine learning algorithm with a cross-validation technique to classify NT and ASD babies and performed various statistical tests. With a minimization of the false positive rate, 96% of NT and 41% of ASD babies were identified with a positive predictive value of 77%. We identified the following biomarkers related to ASD: sex, maternal familial history of auto-immune diseases, maternal immunization to CMV, IgG CMV level, timing of fetal rotation on head, femur length in the 3rd trimester, white blood cell count in the 3rd trimester, fetal heart rate during labor, newborn feeding and temperature difference between birth and one day after. Furthermore, statistical models revealed that a subpopulation of 38% of babies at risk of ASD had significantly larger fetal head circumference than age-matched NT ones, suggesting an in utero origin of the reported bigger brains of toddlers with ASD. Our results suggest that pregnancy follow-up measurements might provide an early prognosis of ASD enabling pre-symptomatic behavioral interventions to attenuate efficiently ASD developmental sequels.

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5. Deng Z, Wang S. Sex differentiation of brain structures in autism: Findings from a gray matter asymmetry study. Autism research : official journal of the International Society for Autism Research. 2021; 14(6): 1115-26.

Autism spectrum disorder (ASD) is diagnosed much more often in males than females. This male predominance has prompted a number of studies to examine how sex differences are related to the neural expression of ASD. Different theories, such as the « extreme male brain » theory, the « female protective effect » (FPE) theory, and the gender incoherence (GI) theory, provide different explanations for the mixed findings of sex-related neural expression of ASD. This study sought to clarify whether either theory applies to the brain structure in individuals with ASD by analyzing a selective high-quality data subset from an open data resource (Autism Brain Imaging Data Exchange I and II) including 35 males/35 females with ASD and 86 male/86 female typical-controls (TCs). We examined the sex-related changes in ASD in gray matter asymmetry measures (i.e., asymmetry index, AI) derived from voxel-based morphometry using a 2 (diagnosis: ASD vs. TC) ×  2 (sex: female vs. male) factorial design. A diagnosis-by-sex interaction effect was identified in the planum temporale/Heschl’s gyrus: (i) compared to females, males exhibited decreased AI (indicating more leftward brain asymmetry) in the TC group, whereas AI was greater (indicating less leftward brain asymmetry) for males than for females in the ASD group; and (ii) females with ASD showed reduced AI (indicating more leftward brain asymmetry) compared to female TCs, whereas there were no differences between ASDs and TCs in the male group. This interaction pattern supports the FPE theory in showing greater brain structure changes (masculinization) in females with ASD. LAY SUMMARY: To understand the neural mechanisms underlying male predominance in autism spectrum disorder (ASD), we investigated the sex differences in ASD-related alterations in brain asymmetry. We found greater changes in females with ASD compared with males with ASD, revealing a female protective effect. These findings provide novel insights into the neurobiology of sex differences in ASD.

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6. Direito B, Mouga S, Sayal A, Simões M, Quental H, Bernardino I, Playle R, McNamara R, Linden DE, Oliveira G, Castelo Branco M. Training the social brain: Clinical and neural effects of an 8-week real-time functional magnetic resonance imaging neurofeedback Phase IIa Clinical Trial in Autism. Autism : the international journal of research and practice. 2021; 25(6): 1746-60.

Neurofeedback is an emerging therapeutic approach in neuropsychiatric disorders. Its potential application in autism spectrum disorder remains to be tested. Here, we demonstrate the feasibility of real-time functional magnetic resonance imaging volitional neurofeedback in targeting social brain regions in autism spectrum disorder. In this clinical trial, autism spectrum disorder patients were enrolled in a program with five training sessions of neurofeedback. Participants were able to control their own brain activity in this social brain region, with positive clinical and neural effects. Larger, controlled, and blinded clinical studies will be required to confirm the benefits.

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7. Harris L, Gilmore D, Longo A, Hand BN. Short report: Patterns of US federal autism research funding during 2017-2019. Autism : the international journal of research and practice. 2021; 25(7): 2135-9.

In 2017, an advisory board consisting of autism researchers and community members recommended that funders of autism research prioritize research projects on: (1) treatments/interventions, (2) evidence-based services, and (3) lifespan issues. To describe funding in these areas since this recommendation was made, we searched the databases of the three largest federal funders of autism research in the United States. We found that the largest portion of federal funding during 2017-2019 was awarded to research on the biology of autism (32.59%) and treatments and interventions for autism (22.87%). Less funds were awarded to research areas that are high funding priorities by the Interagency Autism Coordinating Committee budget recommendation including services (5.02%) and lifespan issues (2.51%). Our findings emphasize that autism research funding is not consistent with the Interagency Autism Coordinating Committee budget recommendation to increase funding particularly to services and lifespan issues. We recommend that funding patterns should shift to better align with these priorities so that autism research may better serve the needs of the autism community.

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8. Higazi AM, Kamel HM, Abdel-Naeem EA, Abdullah NM, Mahrous DM, Osman AM. Expression analysis of selected genes involved in tryptophan metabolic pathways in Egyptian children with Autism Spectrum Disorder and learning disabilities. Scientific reports. 2021; 11(1): 6931.

Autism Spectrum Disorder (ASD) and learning disabilities are neurodevelopmental disabilities characterized by dramatically increasing incidence rates, yet the exact etiology for these disabilities is not identified. Impairment in tryptophan metabolism has been suggested to participate in the pathogenesis of ASD, however, further validation of its involvement is required. Additionally, its role in learning disabilities is still uninvestigated. Our objective was to evaluate some aspects of tryptophan metabolism in ASD children (N = 45) compared to children with learning disabilities (N = 44) and healthy controls (N = 40) by measuring the expression levels of the MAOA, HAAO and AADAT genes using real-time RT-qPCR. We also aimed to correlate the expression patterns of these genes with parental ages at the time of childbirth, levels of serum iron, and vitamin D3 and zinc/copper ratio, as possible risk factors for ASD. Results demonstrated a significant decrease in the expression of the selected genes within ASD children (p < 0.001) relative to children with learning disabilities and healthy controls, which significantly associated with the levels of our targeted risk factors (p < 0.05) and negatively correlated to ASD scoring (p < 0.001). In conclusion, this study suggests that the expression of the MAOA, HAAO and AADAT genes may underpin the pathophysiology of ASD.

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9. Kodesh A, Levine SZ, Khachadourian V, Rahman R, Schlessinger A, O’Reilly PF, Grove J, Schendel D, Buxbaum JD, Croen L, Reichenberg A, Sandin S, Janecka M. Maternal health around pregnancy and autism risk: a diagnosis-wide, population-based study. Psychological medicine. 2021: 1-9.

BACKGROUND: Many studies have reported an increased risk of autism spectrum disorder (ASD) associated with some maternal diagnoses in pregnancy. However, such associations have not been studied systematically, accounting for comorbidity between maternal disorders. Therefore our aim was to comprehensively test the associations between maternal diagnoses around pregnancy and ASD risk in offspring. METHODS: This exploratory case-cohort study included children born in Israel from 1997 to 2008, and followed up until 2015. We used information on all ICD-9 codes received by their mothers during pregnancy and the preceding year. ASD risk associated with each of those conditions was calculated using Cox proportional hazards regression, adjusted for the confounders (birth year, maternal age, socioeconomic status and number of ICD-9 diagnoses during the exposure period). RESULTS: The analytic sample consisted of 80 187 individuals (1132 cases, 79 055 controls), with 822 unique ICD-9 codes recorded in their mothers. After extensive quality control, 22 maternal diagnoses were nominally significantly associated with offspring ASD, with 16 of those surviving subsequent filtering steps (permutation testing, multiple testing correction, multiple regression). Among those, we recorded an increased risk of ASD associated with metabolic [e.g. hypertension; HR = 2.74 (1.92-3.90), p = 2.43 × 10-8], genitourinary [e.g. non-inflammatory disorders of cervix; HR = 1.88 (1.38-2.57), p = 7.06 × 10-5] and psychiatric [depressive disorder; HR = 2.11 (1.32-3.35), p = 1.70 × 10-3] diagnoses. Meanwhile, mothers of children with ASD were less likely to attend prenatal care appointment [HR = 0.62 (0.54-0.71), p = 1.80 × 10-11]. CONCLUSIONS: Sixteen maternal diagnoses were associated with ASD in the offspring, after rigorous filtering of potential false-positive associations. Replication in other cohorts and further research to understand the mechanisms underlying the observed associations with ASD are warranted.

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10. Malik-Soni N, Shaker A, Luck H, Mullin AE, Wiley RE, Lewis MES, Fuentes J, Frazier TW. Tackling healthcare access barriers for individuals with autism from diagnosis to adulthood. Pediatric research. 2021: 1-8.

Most individuals with autism spectrum disorder (ASD)-a complex, life-long developmental disorder-do not have access to the care required to address their diverse health needs. Here, we review: (1) common barriers to healthcare access (shortage/cost of services; physician awareness; stigma); (2) barriers encountered primarily during childhood (limited screening/diagnosis; unclear referral pathways), transition to adulthood (insufficient healthcare transition services; suboptimal physician awareness of healthcare needs) and adulthood (shortage of services/limited insurance; communication difficulties with physicians; limited awareness of healthcare needs of aging adults); and (3) advances in research/program development for better healthcare access. A robust understanding of barriers to accessing healthcare across the lifespan of autistic individuals is critical to ensuring the best use of healthcare resources to improve social, physical, and mental health outcomes. Stakeholders must strengthen healthcare service provision by coming together to: better understand healthcare needs of underserved populations; strengthen medical training on care of autistic individuals; increase public awareness of ASD; promote research into/uptake of tools for ASD screening, diagnosis, and treatment; understand specific healthcare needs of autistic individuals in lower resource countries; and conduct longitudinal studies to understand the lifetime health, social, and economic impacts of ASD and enable the evaluation of novel approaches to increasing healthcare access. IMPACT: Despite the growing body of evidence, our understanding of barriers to healthcare encountered by individuals with ASD remains limited, particularly beyond childhood and in lower resource countries. We describe current and emerging barriers to healthcare access encountered by individuals with ASD across the lifespan. We recommend that stakeholders develop evidence-informed policies, programs, and technologies that address barriers to healthcare access for individuals with ASD and consider broad, equitable implementation to maximize impact.

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11. Maltman N, Friedman L, Lorang E, Sterling A. Brief Report: Linguistic Mazes and Perseverations in School-Age Boys with Fragile X Syndrome and Autism Spectrum Disorder and Relationships with Maternal Maze Use. Journal of autism and developmental disorders. 2022; 52(2): 897-907.

Autism spectrum disorder (ASD) and fragile X syndrome (FXS) are neurodevelopmental disorders with overlapping pragmatic language impairments. Prior work suggests pragmatic language differences may run in families. This study examined specific pragmatic difficulties (i.e., linguistic mazes and perseverations) in boys (9-18 years) with idiopathic ASD (n = 26) and FXS+ASD (n = 29), and relationships with maternal maze use. Language samples were obtained separately for boys and mothers. Nonparametric analyses suggested that boys largely did not differ in their rates of mazes, but that boys with FXS+ASD exhibited more perseverations. Mazes were correlated between fragile X dyads. Maternal mazes were correlated with child perseverations among idiopathic ASD dyads. These findings have implications for the etiological significance of ASD-related language phenotypes.

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12. Mellema CJ, Treacher A, Nguyen KP, Montillo A. Architectural configurations, atlas granularity and functional connectivity with diagnostic value in Autism Spectrum Disorder. Proceedings IEEE International Symposium on Biomedical Imaging. 2020; 2020: 1022-5.

Currently, the diagnosis of Autism Spectrum Disorder (ASD) is dependent upon a subjective, time-consuming evaluation of behavioral tests by an expert clinician. Non-invasive functional MRI (fMRI) characterizes brain connectivity and may be used to inform diagnoses and democratize medicine. However, successful construction of predictive models, such as deep learning models, from fMRI requires addressing key choices about the model’s architecture, including the number of layers and number of neurons per layer. Meanwhile, deriving functional connectivity (FC) features from fMRI requires choosing an atlas with an appropriate level of granularity. Once an accurate diagnostic model has been built, it is vital to determine which features are predictive of ASD and if similar features are learned across atlas granularity levels. Identifying new important features extends our understanding of the biological underpinnings of ASD, while identifying features that corroborate past findings and extend across atlas levels instills model confidence. To identify aptly suited architectural configurations, probability distributions of the configurations of high versus low performing models are compared. To determine the effect of atlas granularity, connectivity features are derived from atlases with 3 levels of granularity and important features are ranked with permutation feature importance. Results show the highest performing models use between 2-4 hidden layers and 16-64 neurons per layer, granularity dependent. Connectivity features identified as important across all 3 atlas granularity levels include FC to the supplementary motor gyrus and language association cortex, regions whose abnormal development are associated with deficits in social and sensory processing common in ASD. Importantly, the cerebellum, often not included in functional analyses, is also identified as a region whose abnormal connectivity is highly predictive of ASD. Results of this study identify important regions to include in future studies of ASD, help assist in the selection of network architectures, and help identify appropriate levels of granularity to facilitate the development of accurate diagnostic models of ASD.

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13. Nachman BR, McDermott CT, Cox BE. Brief Report: Autism-Specific College Support Programs: Differences Across Geography and Institutional Type. Journal of autism and developmental disorders. 2022; 52(2): 863-70.

Many postsecondary institutions have begun their own Autism-Specific College Support Programs (ASPs) to integrate the emergence of autistic students into college and offer supports aiding their success (Longtin in J Postsecond Educ Disabil 27(1):63-72, 2014), yet little is known about these programs. We conducted an exhaustive, year-long search of all postsecondary institutions in the United States to identify all ASPs. Although we identified a total of 74 programs located in 29 states, our analyses suggest these are unavailable to students in large portions of the country. When they are available, these programs appear to be disproportionately located at 4-year institutions, public institutions, and in the Mid-East. Our study highlights inequities based on institutional type and geography, as well as offers a complete public list of ASPs.

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14. Renteria-Vazquez T, Brown WS, Kang C, Graves M, Castelli F, Paul LK. Social Inferences in Agenesis of the Corpus Callosum and Autism: Semantic Analysis and Topic Modeling. Journal of autism and developmental disorders. 2022; 52(2): 569-83.

Impoverished capacity for social inference is one of several symptoms that are common to both agenesis of the corpus callosum (AgCC) and Autism Spectrum Disorder (ASD). This research compared the ability of 14 adults with AgCC, 13 high-functioning adults with ASD and 14 neurotypical controls to accurately attribute social meaning to the interactions of animated triangles. Descriptions of the animations were analyzed in three ways: subjective ratings, Linguistic Inquiry and Word Count, and topic modeling (Latent Dirichlet Allocation). Although subjective ratings indicated that all groups made similar inferences from the animations, the index of perplexity (atypicality of topic) generated from topic modeling revealed that inferences from individuals with AgCC or ASD displayed significantly less social imagination than those of controls.

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15. Sandoval Poveda A, Hernández Montoya D. Digital Fabrication and Theater: Developing Social Skills in Young Adults With Autism Spectrum Disorder. Frontiers in psychology. 2021; 12: 615786.

An action research project was carried out, using theater workshops and basic digital fabrication technology workshops to improve social skills-such as the expression of emotions, communication, self-control, and teamwork-in a group of 10 young individuals with autism spectrum disorder (ASD). This article focuses on the digital fabrication workshops, where participants worked on the fundamentals of electronics and programming, as well as 3D design and printing, to make props that were later used on stage in the theatrical performances in which they participated. These workshops were systematized through observation guides. According to the results, it was evident that the participants not only enjoyed and gained technological knowledge, but that their social skill development needs were addressed. Professionals from the Special Education Faculty and the Fab Lab Kä Träre, both from Universidad Estatal a Distancia in Costa Rica, were in charge of the study during its first phase, executed in 2016 and 2017.

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16. Schulz SE, Stevenson RA. Convergent Validity of Behavioural and Subjective Sensitivity in Relation to Autistic Traits. Journal of autism and developmental disorders. 2022; 52(2): 758-70.

Sensory issues are highly prevalent in autism and previous findings support a relationship between questionnaires of sensitivity and autistic symptoms and traits, whereas studies that examine this relationship through behavioural assessments of sensitivity are less consistent. The current study explores these differences and suggests that behavioural thresholds for sensitivity and subjective sensitivity are distinct constructs. One hundred and eighteen adults completed a visual and auditory detection task and questionnaires on sensory processing and autistic traits. Visual thresholds and subjective visual sensitivity were not correlated, but both were related to autistic traits. Auditory thresholds and subjective auditory sensitivity were also unrelated. Overall, sensitivity is highly associated with autistic traits, however, behavioural and questionnaire assessments lack convergent validity and therefore, likely assess distinct constructs.

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17. Shih W, Shire S, Chang YC, Kasari C. Joint engagement is a potential mechanism leading to increased initiations of joint attention and downstream effects on language: JASPER early intervention for children with ASD. Journal of child psychology and psychiatry, and allied disciplines. 2021; 62(10): 1228-35.

BACKGROUND: Social communication interventions benefit children with ASD in early childhood. However, the mechanisms behind such interventions have not been rigorously explored. This study examines the mechanism underlying a naturalistic developmental behavioral intervention, JASPER (Joint Attention, Symbolic Play, Engagement, and Regulation), delivered by educators in the community. Specifically, the analyses focus on the mediating effect of joint engagement on children’s initiations of joint attention (IJA) skills and whether IJA postintervention are associated with later gains in children’s receptive and expressive language. METHODS: One hundred seventy-nine children, age 2-5 years, were randomized to immediate JASPER treatment or waitlist (treatment as usual) control. Independent assessors blinded to time and treatment coded children’s time jointly engaged and IJA during a 10-min teacher-child interaction at baseline, exit, and follow-up. Age-equivalent receptive and expressive language scores from the Mullen Scales of Early Learning were collected at baseline and follow-up. Mediation analyses with linear mixed models were used to explore the potential mediating effect of joint engagement on IJA. RESULTS: Joint engagement significantly mediated 69% of the intervention effect on young children’s IJA and IJA predicted improvements in standardized language scores. CONCLUSIONS: Small but sustained changes in child-initiated joint engagement improved IJA, a core challenge in children with ASD, which in turn led to improvements in language.

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18. Varala S, George R, Mathew L, Russell P, Koshy B, Oommen SP, Thomas M, Muthusamy K, Yoganathan S, Jeyaseelan L, Muliyil J. The Diagnostic Value of Congenital and Nevoid Cutaneous Lesions Associated with Autism Spectrum Disorders in Indian Children- A Case-Control Study. Indian dermatology online journal. 2021; 12(1): 84-9.

BACKGROUND AND AIMS: Cutaneous lesions are the defining features of several neurocutaneous syndromes like neurofibromatosis1(NF1), tuberous sclerosis complex (TSC), and Sturge Weber syndrome to name a few. With this background, we explored the possibility of identifying congenital and nevoid cutaneous markers that may help in the early recognition of autism spectrum disorders (ASD) in Indian children. The objective of this study was to measure the strength of association between congenital and nevoid cutaneous lesions and ASD among Indian children. METHODS: A case-control study was conducted from January 2018 to June 2018. 132 children (18 months-16 years of age) with ASD and equal number of age and sex-matched children without autism were studied. Diagnosis of ASD was based on DSM-5 criteria. All the children were examined for cutaneous lesions with special attention to nevoid and congenital conditions. The strength of association was measured using the diagnostic odds ratio (OR). RESULTS: The prevalence of congenital and nevoid lesions were higher in ASD group (OR = 3.12, P = 0.0001). Among them, pigmentary mosaicism of hyperpigmented type (OR = 2.76, P = 0.02) and café-au-lait macules (CALMs) (OR = 2.40, P = 0.001) were the most prevalent with hyperpigmented pigmentary mosaicism showing a higher association with autism. Atypical CALMs (OR = 2, P = 0.09) were also more prevalent in the ASD group though not statistically significant. CONCLUSION: The presence of hyperpigmented pigmentary mosaicism and CALMs warrant closer surveillance by the caregivers and physicians for evolving features of autism. Larger multicentric studies are required to validate these findings.

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