1. Bölte S. A more holistic approach to autism using the International Classification of Functioning: The why, what, and how of functioning. Autism : the international journal of research and practice. 2022: 13623613221136444.

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2. Cai Q, Zhou Z, Luo R, Yu T, Li D, Yang F, Yang Z. Novel GRIA2 variant in a patient with atypical autism spectrum disorder and psychiatric symptoms: a case report. BMC pediatrics. 2022; 22(1): 629.

BACKGROUND: As sequencing technology has advanced in recent years, a series of synapse-related gene variants have been reported to be associated with autism spectrum disorders (ASDs). The α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor is a subtype of the ionotropic glutamate receptor, whose number or composition changes can regulate the strength and plasticity of synapses. CASE PRESENTATION: Here, we report a de novo GRIA2 variant (NM_001083619.3: c.2308G > A, p.Ala770Thr) in a patient with obvious behavior regression and psychiatric symptoms. It encodes GluA2, which is the crucial subunit of the AMPA receptor, and the missense variation is predicted to result in instability of the protein structure. CONCLUSIONS: The association between GRIA2 variants and onset of ASD symptoms is rare, and our study expands the spectrum of phenotypic variations. For patients with an unexplained etiology of ASD accompanied by psychiatric symptoms, genetic causes should be considered, and a complete genetic evaluation should be performed.

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3. Cao M, Li L, Raat H, Van Grieken A, Wang X, Lin L, Chen Q, Jing J. Socioeconomic factors and autism among 16- to 30-month-old children: Evidence from a national survey of China. Autism : the international journal of research and practice. 2022: 13623613221132743.

Does being born in a family of high socioeconomic status mean a higher risk of being diagnosed with autism? The evidence from the Asian area is lacking. This research was conducted among 6049 toddlers who went through an evaluation-diagnose procedure of autism and whose parents were surveyed during the national survey of China, 2016-2017. Parents reported their education levels, occupations, family income, and ethnic background. We recruited the toddlers and parents from kindergartens, communities, and hospitals in five geographically representative areas of China. On average, these toddlers were 23 months of age. We found toddlers whose mothers had less than 9 years of education (junior middle school or below) had 2.46 times the chance to get a diagnosis of autism, compared with toddlers whose mothers had more than 15 years of education (college or above). We also found that 1.17 toddlers could be diagnosed with autism in each 100 Chinese toddlers. These findings have important implications for providing support to families that have low socioeconomic status, especially families with a mother who did not complete 9 years of education. Early detection programs focused on children from low socioeconomic backgrounds should be promoted.

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4. Donaldson AL, Corbin E, Zisk AH, Eddy B. Promotion of Communication Access, Choice, and Agency for Autistic Students. Language, speech, and hearing services in schools. 2022: 1-16.

PURPOSE: Families and professionals often consider augmentative and alternative communication (AAC) a « last resort » for persons with communication challenges; however, speaking autistic adults have reported that they would have benefited from access to AAC as children. This tutorial discusses the history of this « last resort » practice and its perpetuation within the medical model of disability. The tutorial focuses on communication access, choice, and agency for autistic students. METHOD: We provide a brief overview of the AAC community and their preferred terminology, review the history of traditional approaches to research on AAC and autism, and then examine the relationship between disability models and ableism to views of spoken language as a priority of intervention. Studies on this topic are rare, and resisting ableism requires acknowledging and honoring disabled people’s experiences and expertise. Therefore, we promote autistic expertise within the framework of evidence-based practice and discuss the experiences of autistic people and spoken language. Finally, we consider the role of the speech-language pathologist (SLP) in assessment and offer autistic-based strategies and recommendations for communication support. CONCLUSIONS: Speaking autistic students who could benefit from AAC may not have access to AAC due to the prioritization of spoken language and lack of awareness of the benefit of AAC. We recommend that SLPs and school-based professionals support and facilitate access, communicative choice, and agency by implementing multimodal communication strategies to include AAC use for autistic students regardless of their spoken language status. Promoting all types of communication and ensuring opportunities for communication across multiple modalities are paramount to a child’s agency and self-determination, as is normalization of AAC.

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5. Enav Y, Knudtson MV, Hardan AY, Gross JJ. Maladaptive behaviors in children with autism and parental hopelessness: The moderating role of parental reflective functioning. Autism research : official journal of the International Society for Autism Research. 2022.

Hopelessness in parents has implications for parents’ own well-being as well as their ability to meet the needs of their children. In the present study, we examined the effect of maladaptive behaviors in children with autism on parental hopelessness, with particular attention to whether parental reflective functioning would moderate the effect of maladaptive behaviors on parental hopelessness. Our sample included 68 parents of children with autism between the ages of 3 and 18. Findings revealed a significant positive relationship between maladaptive behaviors in the children and hopelessness in the parents. Moreover, parental reflective functioning moderated the effect of child maladaptive behaviors on parental hopelessness, such that children’s maladaptive behaviors were positively associated with parental hopelessness in parents with low (but not high) reflective functioning. Findings suggest parental reflective functioning may be a protective factor against parental hopelessness, and thus a possible target for interventions for hopelessness in parents whose children with autism exhibit greater maladaptive behaviors.

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6. Garcia JM, Hahs-Vaughn D, Shurack R. Health behaviors, psychosocial factors, and academic engagement in youth with autism spectrum disorder: A latent class analysis. Autism research : official journal of the International Society for Autism Research. 2022.

The purpose of this study was to identify behavioral and health-related profiles of children with autism spectrum disorder (ASD), based on the 2016 National Survey of Children’s Health. A sample of 894 children with ASD (weighted sample N = 768,181) were included in the analysis. All data were parent-reported and included measures on current diagnosis of ASD, general child health, weight status, physical activity (PA), screen time (ST), sleep duration, academic engagement, and social engagement. Latent class analysis, estimated with Mplus v. 8.4, was used to identify latent profiles of children with ASD. A three-profile solution was the best fitting model, per model fit criteria. Children in profile 1 had overall more positive attributes (better health and weight, PA, more engaged in school, little difficulty in making friends, and modest ST) relative to children in either profiles 2 or 3. Children in profile 2 had distinctly increased ST and more difficulty in making friends when compared with children in either other profile. A greater proportion of children in profiles 2 and 3 were receiving behavioral treatment compared to profile 1; however, no differences were observed among profiles according to ASD severity, medication status, or additional health conditions. Studies should examine causal mechanisms among health behaviors, academic achievement, and social engagement in youth with ASD.

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7. Godoy PBG, Sumiya FM, Seda L, Shephard E. A systematic review of observational, naturalistic, and neurophysiological outcome measures of nonpharmacological interventions for autism. Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999). 2022; 44(5): 532-47.

OBJECTIVE: Naturalistic and neurophysiological assessments are relevant as outcome measures in autism intervention trials because they provide, respectively, ecologically valid information about functioning and underlying neurocognitive mechanisms. We conducted a systematic review to highlight which specific neurophysiological techniques, experimental tasks, and naturalistic protocols have been used to assess neural and behavioral functioning in autism intervention studies. METHODS: Studies were collected from four electronic databases between October 2019 and February 2020: MEDLINE (via PubMed), PsycINFO, LILACS, and Web of Science, and were included if they used structured observational, naturalistic, or neurophysiological measures to assess the efficacy of a nonpharmacological intervention for ASD. RESULTS: Fourteen different measures were used by 64 studies, with the Autism Diagnostic Observation Schedule the most frequently used instrument. Thirty-seven different coding systems of naturalistic measures were used across 51 studies, most of which used different protocols. Twentyfour neurophysiological measures were used in 16 studies, with different experimental paradigms and neurophysiological components used across studies. CONCLUSIONS: Cross-study variability in assessing the outcomes of autism interventions may obscure comparisons and conclusions about how different behavioral interventions affect autistic social communication and underlying neurophysiological mechanisms.

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8. Holeva V, Nikopoulou VA, Lytridis C, Bazinas C, Kechayas P, Sidiropoulos G, Papadopoulou M, Kerasidou MD, Karatsioras C, Geronikola N, Papakostas GA, Kaburlasos VG, Evangeliou A. Effectiveness of a Robot-Assisted Psychological Intervention for Children with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2022: 1-17.

Difficulties with social interaction characterise children with Autism Spectrum Disorders and have a negative impact in their everyday life. Integrating a social-humanoid robot within the standard clinical treatment has been proven promising. The main aim of this randomised controlled study was to evaluate the effectiveness of a robot-assisted psychosocial intervention and the secondary aim was to investigate potential differences between a robot-assisted intervention group and a control group receiving intervention by humans only. The analysis of the results showed that robot-assisted intervention could be beneficial by improving children’s psychosocial skills. This improvement was highlighted by neuropsychological testing and parent reporting. Group comparison only presented minimal statistically significant differences. The study underpins the potential of robot-assisted interventions to augment standard care.

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9. Kulasinghe K, Whittingham K, Mitchell AE. Emotional availability in the mother-child relationship for families of young children with autism spectrum disorder in Australia: A cross-sectional survey. Research in developmental disabilities. 2022; 131: 104365.

BACKGROUND: In families of children with autism spectrum disorder (ASD) the mother-child relationship can be affected by many factors; however, the impacts of maternal broad autism phenotype (BAP) and attachment styles are unknown. This study investigated predictors of emotional availability in the mother-child relationship in families of children with ASD. METHODS: Mothers (N = 231) of children with ASD living in Australia completed questionnaires assessing emotional availability in the parent-child relationship (mutual attunement, child involvement, affect quality) and mothers’ BAP, mental health, adult attachment style and parenting experiences. Hierarchical multiple regressions and a mediation analysis were conducted. RESULTS: Parent-reported positive parenting experiences was the greatest predictor of mutual attunement, child involvement and affect quality in the parent-child relationship. Maternal stress and anxiety predicted poorer mutual attunement, stress and depressive symptoms predicted less child involvement and anxiety predicted worse affect quality. Negative parenting experiences, maternal anxiety and stress mediated the relationship between BAP and mutual attunement. CONCLUSION: Interventions combining mental health and parenting support for mothers of children with ASD to bolster emotional availability within the mother-child relationship may be warranted.

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10. Leung CNW, Leung CSY, Chan RWS, Leung PWL. Can the UK AQ-10 be applicable to Chinese samples with autism spectrum disorder in Hong Kong? Cross-cultural similarities and differences. Autism research : official journal of the International Society for Autism Research. 2022.

The current study aimed at testing and developing alternative short versions of autism spectrum quotient (AQ-10) (adult [self-report], adult [parent-report], adolescent, and child versions) for use in Hong Kong. First, the various versions of AQ-10 developed in the United Kingdom (the AQ-10-UK) were applied to Hong Kong Chinese samples and demonstrated satisfactory discriminative power (AUCs 0.77-0.94). Second, the Hong Kong Chinese versions of AQ-10 (AQ-10-HK) were developed, using the same methodology as in the original UK study. There were some changes in the choice of items and cut-offs. The AQ-10-HK demonstrated slightly greater discriminative power (AUCs 0.88-0.97) to that of the AQ-10-UK, but the differences in AUCs were not statistically significant. Compared to the corresponding full-length versions, both the UK and HK short forms did not seem to lose any significant discriminative power. Yet, the various versions of AQ, be they the full-length or AQ-10, appeared to consistently exhibit slightly smaller AUCs with the Hong Kong Chinese samples than with the UK samples. So, this study found both cross-cultural similarities and differences. The AQ-10-HK was recommended for local practice to maximize the advantage gained. Yet, for international multi-site research collaboration, involving the UK and HK, the original AQ-10-UK can be used for direct comparison of data.

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11. Linder J, Koplik SE, Kundaje A, Seelig G. Deciphering the impact of genetic variation on human polyadenylation using APARENT2. Genome biology. 2022; 23(1): 232.

BACKGROUND: 3′-end processing by cleavage and polyadenylation is an important and finely tuned regulatory process during mRNA maturation. Numerous genetic variants are known to cause or contribute to human disorders by disrupting the cis-regulatory code of polyadenylation signals. Yet, due to the complexity of this code, variant interpretation remains challenging. RESULTS: We introduce a residual neural network model, APARENT2, that can infer 3′-cleavage and polyadenylation from DNA sequence more accurately than any previous model. This model generalizes to the case of alternative polyadenylation (APA) for a variable number of polyadenylation signals. We demonstrate APARENT2’s performance on several variant datasets, including functional reporter data and human 3′ aQTLs from GTEx. We apply neural network interpretation methods to gain insights into disrupted or protective higher-order features of polyadenylation. We fine-tune APARENT2 on human tissue-resolved transcriptomic data to elucidate tissue-specific variant effects. By combining APARENT2 with models of mRNA stability, we extend aQTL effect size predictions to the entire 3′ untranslated region. Finally, we perform in silico saturation mutagenesis of all human polyadenylation signals and compare the predicted effects of [Formula: see text] million variants against gnomAD. While loss-of-function variants were generally selected against, we also find specific clinical conditions linked to gain-of-function mutations. For example, we detect an association between gain-of-function mutations in the 3′-end and autism spectrum disorder. To experimentally validate APARENT2’s predictions, we assayed clinically relevant variants in multiple cell lines, including microglia-derived cells. CONCLUSIONS: A sequence-to-function model based on deep residual learning enables accurate functional interpretation of genetic variants in polyadenylation signals and, when coupled with large human variation databases, elucidates the link between functional 3′-end mutations and human health.

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12. Sigar P, Uddin LQ, Roy D. Altered global modular organization of intrinsic functional connectivity in autism arises from atypical node-level processing. Autism research : official journal of the International Society for Autism Research. 2022.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by restricted interests and repetitive behaviors as well as social-communication deficits. These traits are associated with atypicality of functional brain networks. Modular organization in the brain plays a crucial role in network stability and adaptability for neurodevelopment. Previous neuroimaging research demonstrates discrepancies in studies of functional brain modular organization in ASD. These discrepancies result from the examination of mixed age groups. Furthermore, recent findings suggest that while much attention has been given to deriving atlases and measuring the connections between nodes, within node information may also be crucial in determining altered modular organization in ASD compared with typical development (TD). However, altered modular organization originating from systematic nodal changes are yet to be explored in younger children with ASD. Here, we used graph-theoretical measures to fill this knowledge gap. To this end, we utilized multicenter resting-state fMRI data collected from 5 to 10-year-old children-34 ASD and 40 TD obtained from the Autism Brain Image Data Exchange (ABIDE) I and II. We demonstrate that alterations in topological roles and modular cohesiveness are the two key properties of brain regions anchored in default mode, sensorimotor, and salience networks, and primarily relate to social and sensory deficits in children with ASD. These results demonstrate that atypical global network organization in children with ASD arises from nodal role changes, and contribute to the growing body of literature suggesting that there is interesting information within nodes providing critical markers of functional brain networks in autistic children.

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13. Tesfaye R, Courchesne V, Mirenda P, Mitchell W, Nicholas D, Singh I, Zwaigenbaum L, Elsabbagh M. Autism voices: Perspectives of the needs, challenges, and hopes for the future of autistic youth. Autism : the international journal of research and practice. 2022: 13623613221132108.

Currently, our understanding of the adolescent period for autistic youth has relied on the expertise of researchers, clinicians, parents, and teachers, yet rarely involves their unique first-person experiences. Our study attempted to understand the experiences and perspectives of autistic adolescents in their home, school, and community environments using the Autism Voices protocol, a semi-structured interview specifically designed and tailored to engage with autistic youth with various language and intellectual levels. The analysis of the 31 interviews conducted with autistic adolescents aged 11-18 years highlighted six themes: (1) autistic identities, (2) thinking about the future, (3) seeking social connection on their own terms, (4) seeking autonomy, (5) school as both a stressor and social facilitator, and (6) experiences of stress and anxiety. These results highlight similarities and differences in the adolescent experiences of autistic youth compared to their typically developing peers. Our findings suggest that by removing assumptions about the experiences of autistic individuals and investing in inclusive interview methods, we can faithfully capture the experiences of autistic youth regardless of their communication and cognitive abilities. Being able to capture and amplify these diverse voices will facilitate the active involvement of autistic communities in research and clinical and policy decisions that impact them.

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14. Wolff N, Kohls G, Mack JT, Vahid A, Elster EM, Stroth S, Poustka L, Kuepper C, Roepke S, Kamp-Becker I, Roessner V. A data driven machine learning approach to differentiate between autism spectrum disorder and attention-deficit/hyperactivity disorder based on the best-practice diagnostic instruments for autism. Scientific reports. 2022; 12(1): 18744.

Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are two frequently co-occurring neurodevelopmental conditions that share certain symptomatology, including social difficulties. This presents practitioners with challenging (differential) diagnostic considerations, particularly in clinically more complex cases with co-occurring ASD and ADHD. Therefore, the primary aim of the current study was to apply a data-driven machine learning approach (support vector machine) to determine whether and which items from the best-practice clinical instruments for diagnosing ASD (ADOS, ADI-R) would best differentiate between four groups of individuals referred to specialized ASD clinics (i.e., ASD, ADHD, ASD + ADHD, ND = no diagnosis). We found that a subset of five features from both ADOS (clinical observation) and ADI-R (parental interview) reliably differentiated between ASD groups (ASD & ASD + ADHD) and non-ASD groups (ADHD & ND), and these features corresponded to the social-communication but also restrictive and repetitive behavior domains. In conclusion, the results of the current study support the idea that detecting ASD in individuals with suspected signs of the diagnosis, including those with co-occurring ADHD, is possible with considerably fewer items relative to the original ADOS/2 and ADI-R algorithms (i.e., 92% item reduction) while preserving relatively high diagnostic accuracy. Clinical implications and study limitations are discussed.

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15. Yamane N, Snow AD, Fein D, Naigles L, Goldman S. Brief report: Parent-guided movements during play with children with autism spectrum disorder. Research in autism spectrum disorders. 2022; 94.

BACKGROUND: Children with autism spectrum disorder (ASD) demonstrate social and communication impairments from an early age. While researchers have long investigated parenting behaviors in relation to children’s social and communication development, fewer studies have examined the relevance of movement-based parenting behaviors to facilitating communication and social engagement with young children. The present study aimed to investigate: (1) parent-guided movements (PGMs) within dyads of parents and typically developing (TD) children and children with ASD; and (2) children’s ASD diagnostic and receptive language scores as predictors of PGM frequency. METHOD: Video-recorded play interactions of 33 TD dyads (mean age: 20.4 months) and 31 dyads with ASD (mean age: 32.6 months) were matched on child’s expressive language. Data were obtained from a longitudinal study on developmental language trajectories in ASD and coded for PGMs. RESULTS: Overall, parents of children with ASD initiated PGMs more frequently than parents of TD children during play (U = 269.00, z = – 3.58, p < 0.001). PGM frequency was predicted by children's ADOS scores (X (2) = 5.46, p = 0.02, OR = 1.26, 95% CI [1.04, 1.54]) and receptive language (X (2) = 4.15, p = 0.04, OR = 5.43, 95% CI [1.10, 27.67]). CONCLUSIONS: Findings suggest that parents of children with ASD and low receptive language may utilize more movement-based strategies to compensate for their children's impaired social engagement and verbal comprehension. This study offers insight on a particular movement-based modality characterizing ASD dyads that can be used as a measure in parent-mediated interventions.

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