1. Arnold M, Netson R, Vyshedskiy A. Combinatorial Language parent-report Scores Differ Significantly Between Typically Developing Children and Those with Autism Spectrum Disorders. Journal of autism and developmental disorders. 2022.

Prefrontal synthesis (PFS) is a component of constructive imagination. It is defined as the process of mentally juxtaposing objects into novel combinations. For example, to comprehend the instruction « put the cat under the dog and above the monkey, » it is necessary to use PFS in order to correctly determine the spatial arrangement of the cat, dog, and monkey with relation to one another. The acquisition of PFS hinges on the use of combinatorial language during early childhood development. Accordingly, children with developmental delays exhibit a deficit in PFS, and frequent assessments are recommended for such individuals. In 2018, we developed the Mental Synthesis Evaluation Checklist (MSEC), a parent-reported evaluation designed to assess PFS and combinatorial language comprehension. In this manuscript we use MSEC to identify differences in combinatorial language acquisition between ASD (N = 29,138) and neurotypical (N = 111) children. Results emphasize the utility of the MSEC in distinguishing language deficits in ASD from typical development as early as 2 years of age (p < 0.0001).

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2. Bernard S, Grosjean B, Caravallah L. Neurodiversity and Early Autism. JAMA pediatrics. 2022.

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3. Burnham Riosa P, Randhawa A, Muskat B. Autism Comes to the Pediatric Hospital: Perspectives of Child Life Specialists. Journal of autism and developmental disorders. 2022.

The hospital setting may be especially difficult for pediatric patients on the autism spectrum and their families compared to those not on the spectrum. Child life specialists are healthcare professionals specifically trained to support parents and their children and help prepare them for hospital procedures. Because of this specialized skill set, these professionals likely have a wealth of expertise to share relevant to caring for autistic patients. This study aimed to understand 21 child life specialists’ experiences working with patients on the spectrum. Our findings highlighted the following themes: Parents are the Experts, Proactive and Individualized Care, Disclosure, and Hospital-Wide Suggestions to Improve Patient Care. We discuss the practice implications of these findings on the healthcare experiences of pediatric patients on the spectrum.

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4. Carruthers S, Mleczko N, Page S, Ahuja S, Ellis C, Howlin P, Leadbitter K, Taylor L, Slonims V, Charman T. Using implementation science frameworks to explore barriers and facilitators for parents’ use of therapeutic strategies following a parent-mediated autism intervention. Autism : the international journal of research and practice. 2022: 13623613221125630.

Many early autism interventions teach parents therapeutic strategies to help them adjust their communication style with their children. Research has shown that this behaviour change in parents leads to improvements in child communication. It is, therefore, important to learn what factors support or hinder parents in their use of therapeutic strategies learned in such interventions. This study set out to interview parents who had participated in a research trial of the Paediatric Autism Communication Therapy-Generalised intervention. We interviewed 27 caregivers and explored their use of the strategies up to 2 years after the end of the research trial. Qualitative frameworks were used to inform interview questions and data analysis. These frameworks focused on a range of contextual factors, including parents’ characteristics, their context and features of the intervention. Parents reported barriers and facilitators to using Paediatric Autism Communication Therapy-Generalised strategies across three themes: Motivating Factors; Opportunity and Support; Parent Characteristics. One of these themes, Motivating Factors, was further divided into the subthemes Compatibility and Buy-In and Alignment of Goals and Outcomes. Almost all parents reported continued use of the Paediatric Autism Communication Therapy-Generalised strategies. Facilitators included parental confidence in using the strategies and barriers included child’s behaviour. Consideration of these factors can inform ways to better support parents in future autism interventions.

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5. Chalkiadaki K, Hooshmandi M, Lach G, Statoulla E, Simbriger K, Amorim IS, Kouloulia S, Zafeiri M, Pothos P, Bonneil É, Gantois I, Popic J, Kim SH, Wong C, Cao R, Komiyama NH, Atlasi Y, Jafarnejad SM, Khoutorsky A, Gkogkas CG. Mnk1/2 kinases regulate memory and autism-related behaviours via Syngap1. Brain : a journal of neurology. 2022.

MAPK (mitogen-activated protein kinase) interacting protein kinases 1 and 2 (Mnk1/2) regulate a plethora of functions, presumably via phosphorylation of their best characterised substrate, eukaryotic translation initiation factor 4E (eIF4E) on Ser209. Here, we show that whereas deletion of Mnk1/2 (Mnk DKO) impairs synaptic plasticity and memory in mice, ablation of phosho-eIF4E (Ser209) does not affect these processes, suggesting that Mnk1/2 possess additional downstream effectors in the brain. Translational profiling revealed only a small overlap between Mnk1/2- and phospho-eIF4E(Ser209)-regulated translatome. We identified the synaptic Ras GTPase activating protein 1 (Syngap1), encoded by a syndromic autism gene, as a downstream target of Mnk1 since Syngap1 immunoprecipitated with Mnk1 and showed reduced phosphorylation (S788) in Mnk DKO mice. Knock-down of Syngap1 reversed memory deficits in Mnk DKO mice, and pharmacological inhibition of Mnks rescued autism-related phenotypes in Syngap1+/- mice. Thus, Syngap1 is a downstream effector of Mnk1, and the Mnks-Syngap1 axis regulates memory formation and autism-related behaviours.

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6. Chan AJS, Engchuan W, Reuter MS, Wang Z, Thiruvahindrapuram B, Trost B, Nalpathamkalam T, Negrijn C, Lamoureux S, Pellecchia G, Patel RV, Sung WWL, MacDonald JR, Howe JL, Vorstman J, Sondheimer N, Takahashi N, Miles JH, Anagnostou E, Tammimies K, Zarrei M, Merico D, Stavropoulos DJ, Yuen RKC, Fernandez BA, Scherer SW. Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder. Nature communications. 2022; 13(1): 6463.

Defining different genetic subtypes of autism spectrum disorder (ASD) can enable the prediction of developmental outcomes. Based on minor physical and major congenital anomalies, we categorize 325 Canadian children with ASD into dysmorphic and nondysmorphic subgroups. We develop a method for calculating a patient-level, genome-wide rare variant score (GRVS) from whole-genome sequencing (WGS) data. GRVS is a sum of the number of variants in morphology-associated coding and non-coding regions, weighted by their effect sizes. Probands with dysmorphic ASD have a significantly higher GRVS compared to those with nondysmorphic ASD (P = 0.03). Using the polygenic transmission disequilibrium test, we observe an over-transmission of ASD-associated common variants in nondysmorphic ASD probands (P = 2.9 × 10(-3)). These findings replicate using WGS data from 442 ASD probands with accompanying morphology data from the Simons Simplex Collection. Our results provide support for an alternative genomic classification of ASD subgroups using morphology data, which may inform intervention protocols.

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7. Chaxiong P, Dimian AF, Wolff JJ. Restricted and repetitive behavior in children with autism during the first three years of life: A systematic review. Frontiers in psychology. 2022; 13: 986876.

Restricted and repetitive behavior (RRB) is a core diagnostic feature of autism spectrum disorder (ASD). Previous research shows that RRB is prevalent early in life and observed in neurotypical development as well. Less is known, however, about early RRB patterns, developmental trajectories, and the relation to outcomes for autistic children. The purpose of this systematic review was to synthesize findings from studies examining RRB in autistic children from birth through age 3. A detailed protocol was designed a priori based on PRISMA guidelines for systematic reviews. From the published literature, 41 peer reviewed journal articles were identified and included in this review. Our synthesis of the literature suggests that differences in RRB are evident prior to age 2 in children with or who go onto be diagnosed with autism. These differences were evident for both frequency and intensity of RRB across multiple topographies. There were mixed results regarding functional outcomes associated with early RRB, such as cognitive and adaptive behavior, though relations appeared to become stronger as children aged beyond toddlerhood. Notably, level of RRB appears unrelated to autism severity in young autistic children. A wide range of RRB have been reported to be elevated in autistic children during the first years of life, including repetitive motor behaviors, atypical sensory behaviors, insistence on sameness (IS), and self-injurious behaviors (SIBs). In contrast to studies of older children, RRB in very young autistic children do not appear to be associated with functional outcomes but may be valuable to include in early screening efforts. SYSTEMATIC REVIEW REGISTRATION: https://osf.io/huzf3, unique identifier: doi: 10.17605/OSF.IO/HUZF3.

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8. Coulter KL, Moreno P, Barton M, Dumont-Mathieu T, Robins DL, Fein DA. Validity of the Toddler Autism Symptom Inventory in Non-Hispanic White and Black Toddlers. Journal of autism and developmental disorders. 2022.

Racial disparities exist in autism diagnosis, and yet, the development of most diagnostic tools has not explicitly examined measurement equity between racial and ethnic groups. We examined the validity of the Toddler Autism Symptom Inventory (TASI), a semi-structured interview developed for diagnosis of toddlers, in non-Hispanic Black/African American and non-Hispanic White children. After controlling for group differences in socio-economic status, no differences in diagnosis, age at diagnosis, mean developmental level, or autism severity were found. TASI ROC curves for both groups, in the overall sample, and in samples stratified by SES, showed high AUC values. Validity of two cutoff scores was acceptable. Lack of significant differences in TASI score or responses to individual items suggests similar symptomatology. These results provide early support for the use of the TASI in diagnostic evaluations of Black and White children.

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9. Dawson G, Franz L, Brandsen S. Neurodiversity and Early Autism-Reply. JAMA pediatrics. 2022.

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10. Del Hoyo Soriano L, Sterling A, Edgin J, Hamilton DR, Berry-Kravis E, Dimachkie Nunnally A, Thurman AJ, Abbeduto L. Associations Among Sex, Cognitive Ability, and Autism Symptoms in Individuals with Down Syndrome. Journal of autism and developmental disorders. 2022.

This study explores sex-differences in (a) rates and profiles of autism symptoms as well as in (b) the contribution of intellectual quotient (IQ) to autism symptom presentation in Down syndrome (DS). Participants were 40 males and 38 females with DS, aged 6 to 23 years. Autism symptoms were rated through the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). Results show no sex differences in the ADOS-2 Calibrated Severity Scores (CSS). However, only females with DS who are classified as DS-Only have higher scores on verbal IQ than those classified as DS + autism. Furthermore, associations between IQ and all CSSs are found for females, but not for males. Findings suggest that verbal cognition may play differential roles for females and males with DS.

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11. Eigsti IM, Girolamo T, Fein D. Neurodiversity and Early Autism. JAMA pediatrics. 2022.

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12. Hannah KE, Brown KS, Hall-Bruce M, Stevenson RA, McRae K. Knowledge of the temporal structure of events in relation to autistic traits and social ability. Acta psychologica. 2022; 231: 103779.

Event knowledge, a person’s understanding of patterns of activities in the world, is crucial for everyday social interactions. Social communication differences are prominent in autism, which may be related to atypical event knowledge, such as atypical knowledge of the sequences of activities that comprise the temporal structure of events. Previous research has found that autistic individuals have atypical event knowledge, but research in this area is minimal, particularly regarding autistic individuals’ knowledge of the temporal structure of events. Furthermore, no studies have investigated the link between event knowledge and autistic traits in a non-clinical sample. We investigated relationships between event knowledge and autistic traits in individuals from the general population with varying degrees of autistic traits. We predicted that atypical ordering of event activities is related to autistic traits, particularly social communication abilities, but not other clinical traits. In Study 1, atypical ordering of event activities correlated with social ability, but not with most measures of repetitive behaviours and restricted interests. In Study 2, the typicality of activity ordering varied by participants’ social ability and the social nature of the events. Relationships were not found between event activity ordering and other clinical traits. These findings suggest a relationship between autistic traits, specifically social abilities, and knowledge of the temporal structure of events in a general population sample.

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13. Heiman T, Avissar G. Facilitators and impediments in inclusive education for students with intellectual developmental disability: Perceptions of school staff and parents in Israel. Journal of intellectual disabilities : JOID. 2022: 17446295221136355.

Students with intellectual developmental disability (IDD) may have impairments in conceptual, social, and daily life areas that will require support when these students are included in mainstream settings. In order to examine the facilitators and impediments involved in inclusion of students with IDD in regular schools in Israel, we interviewed six parents of students with IDD who were enrolled in inclusive classes, five teachers of inclusive classes, one teaching assistant and two school principals. Analysis of the interview transcripts revealed the perceptions regarding the included students, by their parents and the school staff. The school staff perceived family involvement and the connection between them and the parents as the most important. Parents perceived the possibility of studying in an inclusive class as an opportunity for social integration and scholastic advancement. All the participants indicated the social aspect as crucial to the inclusion of students with IDD.

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14. Iskandar K, Triono A, Sunartini, Dwianingsih EK, Indraswari BW, Kirana IR, Ivana G, Sutomo R, Patria SY, Herini ES, Gunadi. Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy. PloS one. 2022; 17(10): e0276640.

INTRODUCTIONS: Duchenne muscular dystrophy (DMD) is an X-linked recessive progressive muscular disease marked by developmental delays due to mutations in the DMD gene, which encodes dystrophin. Brain comorbidity adds to the burden of limited mobility and significantly impacts patients’ quality of life and their family. The changes of expression of dystrophin isoforms in the brain due to DMD gene mutations are thought to be related to the cognitive and neurobehavior profiles of DMD. OBJECTIVES: This cross-sectional study aimed to characterize cognitive and neurodevelopmental profiles of patients with DMD and to explore underlying genotype-phenotype associations. METHODS: Patients with DMD aged 5-18 years from Dr Sardjito Hospital and Universitas Gadjah Mada Academic Hospital from 2017-2022 were included. Multiplex ligation-dependent probe amplification and whole exome sequencing were used to determine mutations in the DMD genes. Cognitive function was measured by intelligence quotient testing using the Wechsler Intelligence Scale for Children and adaptive function tests with Vineland Adaptive Behavior Scales. The Autism Mental Status Exam and Abbreviated Conner’s Rating Scale were used to screen for autism spectrum disorder (ASD) and attention deficit and hyperactivity disorder (ADHD), respectively. RESULTS: The mean total IQ score of DMD patients was lower than that of the general population (80.6 ± 22.0 vs 100 ± 15), with intellectual disability observed in 15 boys (29.4%). Of the 51 patients with DMD, the Dp71 group had the lowest cognitive performance with a total IQ score (46 ± 24.8; p = 0.003), while the Dp427 group and Dp140 group’s total IQ scores were 83.0 ± 24.6 and 84.2 ± 17.5 respectively. There were no DMD patients with ASD, while 4 boys (7.8%) had comorbidity with ADHD. CONCLUSION: Boys with DMD are at higher risk of intellectual disability. The risk appears to increase with mutations at the 3′ end of the gene (Dp71 disruption). Moreover, Dp71 disruption might not be associated with ADHD and ASD in patients with DMD.

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15. Jodra M, García-Villamisar D. The Impact of the COVID-19 Pandemic Quarantine on Adults with Autism Spectrum Disorders and Intellectual Disability: A Longitudinal Study. Journal of autism and developmental disorders. 2022: 1-8.

The impact of the pandemic is being very significant psychologically, especially for people who were already vulnerable in these aspects, such as adults with Autism Spectrum Disorders (ASD) and Intellectual Disability (ID). A longitudinal analysis of motor aspects such as balance and gait, executive functions in daily life, severity of symptoms characteristic of autism, and degree of subjective well-being was performed in 53 adults with ASD and ID. A repeated measures ANOVA was performed and three measures were taken, the first in December 2019, the second in March 2020, and the last in July 2020. The results demonstrated a significant decrease in balance on the latter measure, along with a deterioration in well-being and ASD symptoms in the period of seclusion and an improvement in executive functions after seclusion.

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16. Machalicek W, Glugatch L, Erturk B, Brafford T, Kunze M, Drew C, Douglas A, Storie S, Crowe R, Magaña S. Recommendations for Diversifying Racial and Ethnic Representation in Autism Intervention Research: A Crossover Review of Recruitment and Retention Practices in Pediatric Mental Health. Journal of clinical medicine. 2022; 11(21).

Disparities in diagnosis and access to healthcare and therapeutic services are well-documented for children with autism spectrum disorder (ASD) from minoritized races and ethnicities, but there is little empirical research to guide the selection and implementation of interventions and practices that will effectively support racially/ethnically diverse children with ASD and their families. This cross-over systematic review summarizes parent-mediated intervention research of children with or at risk for mental health disorders to identify potentially effective recruitment and retention strategies for diverse participants in parent-mediated intervention research for children with autism. Electronic database keyword, lead author name searches in PyschNet, MEDLINE, and ancestral searches were conducted to identify 68 relevant articles that used experimental designs to evaluate the effects of parent-mediated interventions on children with or at risk for mental health disorders. Articles were coded for participant demographics; intervention setting and type, recruitment and retention strategies, cultural adaptation of intervention, and reported attrition. Findings are discussed and applied to practices in autism parent-mediated intervention research. Suggestions for future research and limitations are discussed.

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17. Mirenda P, Zaidman-Zait A, Cost KT, Smith IM, Zwaigenbaum L, Duku E, Kerns C, Georgiades S, Vaillancourt T, Elsabbagh M, Bennett T, Szatmari P. Educators Describe the « Best Things » About Students with Autism at School. Journal of autism and developmental disorders. 2022.

This study examined educators’ descriptions of the positive character traits of students with autism spectrum disorder at ages 7-8 and 10-11, using an adapted version of the Values in Action (VIA) Classification of Strengths. The most commonly endorsed strengths at both age intervals were kindness, specific skills, self-regulation, and perseverance. Higher scores for challenging behavior were associated with a lower likelihood of endorsement for Happiness and Courage traits. Higher autism symptom severity scores were associated with a lower likelihood of endorsement for Courage traits. Few significant differences were found for endorsement of trait categories by students’ educational placement or the type of curriculum they received. Results may have implications for student-teacher relationships, educational assessments, and school-based interventions that emphasize strengths and resilience.

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18. Naples AJ, Foss-Feig JH, Wolf JM, Srihari VH, McPartland JC. Predictability modulates neural response to eye contact in ASD. Molecular autism. 2022; 13(1): 42.

BACKGROUND: Deficits in establishing and maintaining eye-contact are early and persistent vulnerabilities of autism spectrum disorder (ASD), and the neural bases of these deficits remain elusive. A promising hypothesis is that social features of autism may reflect difficulties in making predictions about the social world under conditions of uncertainty. However, no research in ASD has examined how predictability impacts the neural processing of eye-contact in naturalistic interpersonal interactions. METHOD: We used eye tracking to facilitate an interactive social simulation wherein onscreen faces would establish eye-contact when the participant looked at them. In Experiment One, receipt of eye-contact was unpredictable; in Experiment Two, receipt of eye-contact was predictable. Neural response to eye-contact was measured via the N170 and P300 event-related potentials (ERPs). Experiment One included 23 ASD and 46 typically developing (TD) adult participants. Experiment Two included 25 ASD and 43 TD adult participants. RESULTS: When receipt of eye-contact was unpredictable, individuals with ASD showed increased N170 and increased, but non-specific, P300 responses. The magnitude of the N170 responses correlated with measures of sensory and anxiety symptomology, such that increased response to eye-contact was associated with increased symptomology. However, when receipt of eye-contact was predictable, individuals with ASD, relative to controls, exhibited slower N170s and no differences in the amplitude of N170 or P300. LIMITATIONS: Our ASD sample was composed of adults with IQ > 70 and included only four autistic women. Thus, further research is needed to evaluate how these results generalize across the spectrum of age, sex, and cognitive ability. Additionally, as analyses were exploratory, some findings failed to survive false-discovery rate adjustment. CONCLUSIONS: Neural response to eye-contact in ASD ranged from attenuated to hypersensitive depending on the predictability of the social context. These findings suggest that the vulnerabilities in eye-contact during social interactions in ASD may arise from differences in anticipation and expectation of eye-contact in addition to the perception of gaze alone.

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19. Preethy S, Raghavan K, Ikewaki N, Abraham SJ. Qualitative Evaluation of α-Synuclein – A Critical Step in Unraveling the Complexities of Autism Spectrum Disorder. Medical principles and practice : international journal of the Kuwait University, Health Science Centre. 2022.

α-synuclein is a widely studied biomarker in neurodevelopmental disorders such as autism spectrum disorder (ASD) and neurodegenerative diseases (termed synucleinopathies), including Alzheimer’s disease (AD), Parkinson’s disease (PD), dementia with Lewy bodies (DLBs), and multiple system atrophy. There are conflicting reports on the levels of α-synuclein in children with ASD compared to normal matched controls, with some reporting increased plasma levels and others decreased levels. Al-Mazidi, S., et al have reported that plasma Levels of α-synuclein in ASD is an indicator of disease severity. We go a step further in extrapolating that it is more important to qualitatively evaluate the α-synuclein based on its conformation for better understanding of disease mechanisms and planning treatment strategies. This is inferred from studies that have reported increase in plasma levels of α-synuclein in ASD after supplementation with beta glucans with beneficial effects on sleep and behaviour pattern in these children.

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20. Scarpitti MR, Warrick JE, Yoder EL, Kearse MG. A non-canonical RNA-binding domain of the Fragile X protein, FMRP, elicits translational repression independent of mRNA G-quadruplexes. The Journal of biological chemistry. 2022: 102660.

Loss of functional fragile X mental retardation protein (FMRP) causes fragile X syndrome, the leading form of inherited intellectual disability and the most common monogenic cause of autism spectrum disorders. FMRP is an RNA-binding protein that controls neuronal mRNA localization and translation. FMRP is thought to inhibit translation elongation after being recruited to target transcripts via binding RNA G-quadruplexes (G4s) within the coding sequence. Here, we directly test this model and report that FMRP inhibits translation independent of mRNA G4s. Furthermore, we found that the RGG box motif together with its natural C-terminal domain forms a non-canonical RNA-binding domain (ncRBD) that is essential for translational repression. The ncRBD elicits broad RNA binding ability and binds to multiple reporter mRNAs and all four homopolymeric RNAs. Serial deletion analysis of the ncRBD identified that the regions required for mRNA-binding and translational repression overlap but are not identical. Consistent with FMRP stalling elongating ribosomes and causing the accumulation of slowed 80S ribosomes, transcripts bound by FMRP via the ncRBD co-sediment with heavier polysomes and were present in puromycin-resistant ribosome complexes. Together, this work identifies a ncRBD and translational repression domain that shifts our understanding of how FMRP inhibits translation independent of mRNA G4s.

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21. Valicenti-McDermott M, Rivelis E, Schechtman M, Seijo R, Bernstein C, Cardin MJ. Letter to the Editor: Transition to In-Person School After Remote Learning-Mental Health Concerns in Youth with Developmental Disabilities. Journal of child and adolescent psychopharmacology. 2022; 32(9): 496-7.

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