1. Accardo AL, Pontes NMH, Pontes MCF. Heightened Anxiety and Depression Among Autistic Adolescents with ADHD: Findings From the National Survey of Children’s Health 2016-2019. Journal of autism and developmental disorders. 2022: 1-14.

Data from the National Survey of Children’s Health 2016-2019 was used to examine the co-occurrence of autism and ADHD and the impact on anxiety and depression among adolescents age 12-17. Rates of anxiety and depression were up to ten-fold the prevalence of adolescents not diagnosed with autism or ADHD. Over half of autistic females (57%) and nearly half of autistic males (49%) are also diagnosed with ADHD. Autistic females with ADHD had the highest co-occurrence of anxiety at 72% followed by autistic males with ADHD at 69%. The prevalence of depression was highest among autistic adolescents with ADHD yet was consistent across genders (male/female) at 38-39%. Adolescents diagnosed with autism and/or ADHD are at heightened risk for anxiety and depression.

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2. Anderson C, Iampieri A, Franklin L, Daniels A, Diehl K, Law JK. Re-Consenting Pediatric Research Participants as Legal Adulthood Approaches: Lessons from the SPARK Autism Study. Journal of autism and developmental disorders. 2022.

To explore issues surrounding re-consenting youth in longitudinal studies as they reach legal adulthood interviews were conducted with 46 parents plus 13 autistic teens enrolled in the Simons Foundation Powering Autism Research for Knowledge (SPARK) study. Qualitative analysis focused on family sensitivities regarding guardianship decisions, transition concerns, and the re-consenting process. Questions regarding guardianship were difficult for parents unsure of a teen’s future status. Mothers were key facilitators of re-consenting for soon-to-be-independent teens. As legal adulthood approached, parents were willing to assist teens with re-consenting but needed support, asking for multiple contacts, transition resources, and explanatory materials from the research team. Most teens were not cognizant of SPARK but willing to continue participation once made aware.

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3. Asta L, Persico AM. Differential Predictors of Response to Early Start Denver Model vs. Early Intensive Behavioral Intervention in Young Children with Autism Spectrum Disorder: A Systematic Review and Meta-Analysis. Brain sciences. 2022; 12(11).

The effectiveness of early intensive interventions for Autism Spectrum Disorder (ASD) is now well-established, but there continues to be great interindividual variability in treatment response. The purpose of this systematic review is to identify putative predictors of response to two different approaches in behavioral treatment: Early Intensive Behavioral Interventions (EIBI) and the Early Start Denver Model (ESDM). Both are based upon the foundations of Applied Behavioral Analysis (ABA), but the former is more structured and therapist-driven, while the latter is more naturalistic and child-driven. Four databases (EmBase, PubMed, Scopus and WebOfScience) were systematically screened, and an additional search was conducted in the reference lists of relevant articles. Studies were selected if participants were children with ASD aged 12-48 months at intake, receiving either EIBI or ESDM treatment. For each putative predictor, p-values from different studies were combined using Fisher’s method. Thirteen studies reporting on EIBI and eleven on ESDM met the inclusion criteria. A higher IQ at intake represents the strongest predictor of positive response to EIBI, while a set of social cognitive skills, including intention to communicate, receptive and expressive language, and attention to faces, most consistently predict response to ESDM. Although more research will be necessary to reach definitive conclusions, these findings begin to shed some light on patient characteristics that are predictive of preferential response to EIBI and ESDM, and may provide clinically useful information to begin personalizing treatment.

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4. Avieli H, Band-Winterstein T, Zamir A. Juggling between caregiving and self-actualization: Older parents’ lifelong experience of caring for an adult child with developmental disabilities. PloS one. 2022; 17(11): e0276779.

Recently, the number of adults with Developmental Disabilities (DD) who live with their parents has increased. This study aims to explore how parents report retrospectively and interpret their experience in the context of self-actualization in the long-term care of a child with a developmental disability. Four forms of parents’ experiences emerged from the analysis: « This child is my whole world »-Total devotion; « I Can Do Both »-Actualizing personal and familial goals as well as caregiving issues; « It’s a mission, it’s a calling, it’s a full-time job »-Self-actualization through caregiving; and « Disability will not stop me »-Emphasizing self-actualization. While prior studies have created a distinct separation between caregiving and self-actualization, the current study focuses on the complex dynamics of lifelong parental caregiving for a child with DD, illustrating the parents’ ways of actualizing their life goals in the context of caregiving over the years.

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5. 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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6. Brosnan M, Ashwin C. Thinking, fast and slow on the autism spectrum. Autism : the international journal of research and practice. 2022: 13623613221132437.

What is already known about the topicDaniel Kahneman wrote a highly influential book titled ‘thinking, fast and slow’. He proposes that people usually think in a rapid, automatic, intuitive style. When people realise their intuitive thinking may be wrong, a slower, effortful, deliberative style of thinking takes over. It has recently been proposed that thinking in autistic individuals can be characterised as usually thinking in the deliberative style (rather than the intuitive style that non-autistic people usually think in).What this paper addsAs intuitive thinking is fast and deliberative thinking is slow, this research manipulated the time available to complete a series of reasoning questions. These questions have been developed to have intuitive answers (which are incorrect) and deliberative answers (which are correct). For the first time, a fast time manipulation (you must answer quickly) and slow (you must think about your answer before responding) was undertaken with autistic individuals. Autistic participants did produce more deliberative answers than the non-autistic participants. However, both groups produced comparably more intuitive answers and less deliberative answers in the fast condition. This shows that while autistic people tend not to use their intuition, autistic people can be encouraged to use their intuition.Implications for practice, research or policyUsing rapid intuition can be useful in fast-changing contexts, such as some social situations. Future research can explore how to support autistic individuals to use their intuition when the need arises. In addition, the propensity for deliberation resulting in unbiased, correct responses reflects a strengths-based account of autism. This requires more mental effort and is less susceptible to bias and errors. This is called ‘Dual Process Theory’.

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7. 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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8. Chen S, Zhang Y, Zhao M, Du X, Wang Y, Liu X. Effects of Therapeutic Horseback-Riding Program on Social and Communication Skills in Children with Autism Spectrum Disorder: A Systematic Review and Meta-Analysis. International journal of environmental research and public health. 2022; 19(21).

Animal-assisted therapy has become a fast-growing and effective approach for remediating core impairments of children with ASD; however, recent systematic review studies on the effects of AAT in children with ASD have some limitations, including referral to a variety of animal-assisted interventions rather than to horseback-riding therapy alone and the absence of any meta-analysis in systematic reviews. A complete systematic review of the studies that describe the use of THR as an intervention is needed to specifically target the core impairments of children with ASD. The purpose of this study was to employ the systematic review method to synthesize research findings regarding the effects of THR programs on the social interaction and communication skills of children with ASD. We conducted a structured search in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. We searched for potentially relevant studies in five databases (Web of Science, PubMed, CINAHL, Scopus, and SPORTDiscus) from inception until February 2022. In addition, we manually searched the bibliographies of the included studies to find articles that might otherwise have been missed. We considered articles eligible or ineligible if they satisfied specific inclusion or exclusion criteria. Our results showed that the THR program is an effective direct and alternative therapeutic program that can considerably improve the social behaviors and communication skills of children with ASD and can effectively impact autistic impairments in areas such as social awareness, social cognition, social motivation, and social communication. These findings are in line with those of previous studies; however, we did not find statistical evidence of any effect of THR on the autistic behaviors of irritability, stereotypy, and inappropriate speech. In conclusion, the findings produced by this meta-analysis study provide evidence that THR programs can considerably improve the social behaviors and communication skills of children with ASD.

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9. Chen T, Shur-Fen Gau S, Wu YY, Chou TL. Neural substrates of theory of mind in adults with autism spectrum disorder: An fMRI study of the social animation task. Journal of the Formosan Medical Association = Taiwan yi zhi. 2022.

BACKGROUND: Although the neural mechanisms of the theory of mind (ToM) in children with autism spectrum disorder (ASD) through fMRI using the social animation task have been investigated, little is known in adults with ASD. Therefore, the present study aimed to explore the neural substrates of ToM in adults with ASD. Moreover, we aimed to elucidate the relationship between brain activation and behavior of social interaction in adults with ASD. METHODS: Twenty-four healthy controls and 24 adults with the clinical diagnosis of ASD were recruited. Participants were asked to complete the social animation task in functional magnetic resonance imaging. The imaging analyses of within (whole brain analysis) and between (5 regions of interest) group comparisons were conducted to explore the process of ToM. The correlation analyses were further conducted to explore the relationship between neural activations associated with ToM and social interaction abilities assessed by ADI-R. RESULTS: The ASD group showed greater activation in the left precuneus and right superior temporal gyrus (STG) than the control group. For correlation analyses, greater right STG activation was positively correlated with autistic symptoms assessed by the ADI-R in the ASD group. CONCLUSION: ASD adults might spend a lot of effort on identification processing, thereby influencing social communication skills. Also, the neural deficits of ToM in ASD adults might be associated with their social interaction difficulties.

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10. Chezan LC, McCammon MN, Wolfe K, Drasgow E, Tabacu LM. Teachers’ Familiarity, Confidence, Training, and Use of Problem Behavior Interventions for Learners with Autism Spectrum Disorder in School Settings. Journal of developmental and physical disabilities. 2022: 1-25.

Our main purpose in this study was to investigate the levels of and the relationship between familiarity, confidence, training, and use of problem behavior interventions by special education teachers working with learners with autism spectrum disorder (ASD) in school settings. A total of 80 special education teachers in South Carolina and Virginia completed an online survey. Results indicate a positive correlation between teachers’ familiarity, confidence, training, and use of problem behavior interventions. Across all intervention categories, providing choices, prompting, modeling, and direct instruction received the highest rankings for familiarity, confidence, and use. In addition, our results reveal that familiarity and confidence in implementing these interventions differs across groups of special education teachers based on years of experience. The most frequently reported factors that limit the use of problem behavior interventions in school settings were competing responsibilities, the need to involve multiple people, the amount of time required, and the difficulty using interventions during typical routines. Implications for research and practice are discussed. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10882-022-09885-2.

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11. Conner C, Henry AR, Solari EJ, Zajic MC. Conducting oral and written language adapted tele-assessments with early elementary-age children with autism spectrum disorder. Autism & developmental language impairments. 2022; 7: 23969415221133268.

BACKGROUND AND AIMS: Due to the COVID-19 pandemic, tele-health has gained popularity for both providing services and delivering assessments to children with disabilities. In this manuscript, we discuss the process of collecting standardized oral language, reading, and writing tele-assessment data with early elementary children with autism spectrum disorder (ASD) and offer preliminary findings related to child and parent engagement and technology issues. METHODS: The data presented are from pretest assessments during an efficacy study examining the electronic delivery of a listening comprehension intervention for children with ASD. Pretest sessions included a battery of standardized language, reading, and writing assessments, conducted over Zoom. The authors operationalized and developed a behavioral codebook of three overarching behavioral categories (parent involvement, child disengagement, and technology issues). Researchers coded videos offline to record frequencies of indicated behaviors across participants and assessment subtests. RESULTS: Involvement from parents accounted for the highest number of codes. Children showed some disengagement during assessment sessions. Technology issues were minimal. Behavioral categories appeared overall limited but varied across participants and assessments. CONCLUSIONS: Parent involvement behaviors made up approximately two-thirds of the coded behaviors. Child disengagement behaviors made up approximately one-fourth of the coded behaviors, and these behaviors occurred more frequently across many different participants (with lower frequencies but greater coverage across children). Technology problems specific to responding to assessment items were relatively uncommon. IMPLICATIONS: Clear guidelines including assessment preparation, modification of directions, and guidelines for parents who remain present are among the implications discussed. We also provide practical implications for continued successful adapted tele-assessments for children with ASD.

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12. Dell’Osso L, Amatori G, Massimetti G, Nardi B, Gravina D, Benedetti F, Bonelli C, Luciano M, Berardelli I, Brondino N, De Gregorio M, Deste G, Nola M, Reitano A, Muscatello MRA, Pompili M, Politi P, Vita A, Carmassi C, Maj M. Investigating the relationship between autistic traits and symptoms and Catatonia Spectrum. European psychiatry : the journal of the Association of European Psychiatrists. 2022; 65(1): e81.

BACKGROUND: In recent years, numerous studies have highlighted the overlap between autism spectrum disorder (ASD) and catatonia, both from a clinical and pathophysiological perspective. This study aimed to investigate the relationship between the autism spectrum (autistic traits and ASD signs, symptoms, and behavioral manifestation) and Catatonia Spectrum (CS). METHODS: A total sample of 376 subjects was distributed in four diagnostic groups. Subjects were assessed with the Structured Clinical Interview for DSM-5, Research Version, the Adult Autism Subthreshold Spectrum (AdAS Spectrum), and CS. In the statistical analyses, the total sample was also divided into three groups according to the degree of autism severity, based on the AdAS Spectrum total score. RESULTS: A statistically significant positive correlation was found between AdAS Spectrum and CS total score within the total sample, the gender subgroups, and the diagnostic categories. The AdAS Spectrum domains found to be significantly and strongly correlated with the total CS score were hyper-hypo reactivity to sensory input, verbal communication, nonverbal communication, restricted interests and rumination, and inflexibility and adherence to routine. The three groups of different autistic severity were found to be distributed across all diagnostic groups and the CS score increased significantly from the group without autistic traits to the group with ASD. CONCLUSIONS: Our study reports a strong correlation between autism spectrum and CS.

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13. 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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14. Gandal MJ, Haney JR, Wamsley B, Yap CX, Parhami S, Emani PS, Chang N, Chen GT, Hoftman GD, de Alba D, Ramaswami G, Hartl CL, Bhattacharya A, Luo C, Jin T, Wang D, Kawaguchi R, Quintero D, Ou J, Wu YE, Parikshak NN, Swarup V, Belgard TG, Gerstein M, Pasaniuc B, Geschwind DH. Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD. Nature. 2022; 611(7936): 532-9.

Neuropsychiatric disorders classically lack defining brain pathologies, but recent work has demonstrated dysregulation at the molecular level, characterized by transcriptomic and epigenetic alterations^1-3. In autism spectrum disorder (ASD), this molecular pathology involves the upregulation of microglial, astrocyte and neural-immune genes, the downregulation of synaptic genes, and attenuation of gene-expression gradients in cortex^1,2,4-6. However, whether these changes are limited to cortical association regions or are more widespread remains unknown. To address this issue, we performed RNA-sequencing analysis of 725 brain samples spanning 11 cortical areas from 112 post-mortem samples from individuals with ASD and neurotypical controls. We find widespread transcriptomic changes across the cortex in ASD, exhibiting an anterior-to-posterior gradient, with the greatest differences in primary visual cortex, coincident with an attenuation of the typical transcriptomic differences between cortical regions. Single-nucleus RNA-sequencing and methylation profiling demonstrate that this robust molecular signature reflects changes in cell-type-specific gene expression, particularly affecting excitatory neurons and glia. Both rare and common ASD-associated genetic variation converge within a downregulated co-expression module involving synaptic signalling, and common variation alone is enriched within a module of upregulated protein chaperone genes. These results highlight widespread molecular changes across the cerebral cortex in ASD, extending beyond association cortex to broadly involve primary sensory regions.

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15. Gilmore D, Harris L, Hanks C, Coury D, Moffatt-Bruce S, Garvin JH, Hand BN. « Giving the patients less work »: A thematic analysis of telehealth use and recommendations to improve usability for autistic adults. Autism : the international journal of research and practice. 2022: 13623613221132422.

Real-time telehealth visits, called « virtual visits, » are live video chats between patients and healthcare professionals. There are lots of steps involved in setting up a virtual visit, which may be difficult for some autistic adults. We interviewed 7 autistic adults, 12 family members of autistic adults, and 6 clinic staff from one clinic in the United States. Our goal was to understand their experiences with virtual visits and see how we can make virtual visits easier to use. We re-read text from the interviews to organize experiences and advice that was shared into topics. We found that autistic adults (or their family members) had to connect with clinic staff many times by phone or online over several days to set up a virtual visit. Participants said that having more experience with technology and using the online patient portal made virtual visits easier to use. But, having issues with technology before the visit could make autistic adults and family members anxious. Clinic staff said it was hard for them to meet the needs of people who were using virtual visits and those who were being seen in person at the clinic. Participants recommended reducing the number of calls between staff and autistic adults or family members using the online patient portal instead. Participants also recommended reminder messages, instruction videos, and approximate wait-times to help autistic adults and family members know what to expect for the virtual visit. Our results are based on peoples’ experiences at one clinic, but could help other clinics make virtual visits easier to use for autistic adults and their family members.

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16. Gios TS, Mecca TP, Kataoka LE, Rezende TCB, Lowenthal R. Sleep Problems Before and During the COVID-19 Pandemic in Children with Autism Spectrum Disorder, Down Syndrome, and Typical Development. Journal of autism and developmental disorders. 2022: 1-10.

Sleep problems are common in children and adolescents, particularly those with Neurodevelopmental Disorders. With the changes in daily habits resulting from the COVID-19 pandemic, we have analyzed sleep characteristics, during social isolation, in Brazilian children and adolescents aged between 4 and 12 years with Autism Spectrum Disorder (N = 267), Down Syndrome (N = 74), and typical development (N = 312). The ASD group presented with worse indicators of sleep habits in the Children’s Sleep Habits Questionnaire (CSHQ-BR) and fell asleep later during the pandemic. The entire group started fall asleep and waking up later during the pandemic – as well as waking up more often during the night. These results may contribute to parental guidance and sleep habit-related interventions during and after the COVID-19 pandemic.

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17. Greer JMH, Sood SSM, Metcalfe DR. Perceptions of autism spectrum disorder among the Swahili community on the Kenyan coast. Research in developmental disabilities. 2022; 131: 104370.

BACKGROUND: In high-income and Western societies there is great understanding and awareness of autism spectrum disorder (ASD); however, for many low-middle income countries, research and knowledge is notably lacking. In Africa, there is a growing prevalence of ASD due to increased diagnosis, yet it is still a poorly understood condition. AIMS: Emerging literature has emphasised how cultural and societal beliefs underpin the level of understanding of ASD, and which typically results in lack of awareness and acceptance. As such it is important to investigate the cultural perceptions towards ASD within low-middle income communities of African culture, to further understand the challenges and barriers individuals with ASD face. The aim of the current study was to probe participants from the Swahili community, on the coast of Kenya, of their cultural views towards ASD. METHOD: Semi-structured interviews were conducted with seven participants, and the data analysed using thematic analysis. RESULTS: Three key themes developed from the data; stigma, lack of awareness, and Government responsibility. CONCLUSION: Cultural perceptions negatively impacted awareness and are exacerbated by lack of directive from the Government in providing appropriate diagnostic and educational support.

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18. Hampton S, Man J, Allison C, Aydin E, Baron-Cohen S, Holt R. A qualitative exploration of autistic mothers’ experiences I: Pregnancy experiences. Autism : the international journal of research and practice. 2022: 13623613221132435.

Little is known about how autistic people experience pregnancy. We interviewed 24 autistic and 21 non-autistic women during pregnancy to find out about their experiences. Autistic participants had more physical difficulties, such as nausea and pain, during pregnancy than non-autistic participants. They also sometimes felt that healthcare professionals, such as midwives, did not have a good understanding of autism and they did not always feel comfortable telling professionals about their autism diagnosis. Autistic participants told us that they needed professionals to communicate with them clearly and to make changes during appointments such as dimming lights. This research shows that autistic people would benefit from changes to pregnancy appointments and that more training about autism would help maternity care professionals to support autistic people during pregnancy.

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19. 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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20. 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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21. Jaisle EM, Groves NB, Black KE, Kofler MJ. Linking ADHD and ASD Symptomatology with Social Impairment: The Role of Emotion Dysregulation. Research on child and adolescent psychopathology. 2022.

Children with attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) often experience social impairments. These children also frequently struggle with emotion regulation, and extant literature suggests that emotion dysregulation predicts social impairment in both clinical and neurotypical populations. However, the evidence base linking ADHD/ASD with social impairment comes primarily from samples meeting full diagnostic criteria for ADHD and/or ASD despite evidence that both syndromes reflect extreme ends of natural continuums that are normally distributed across the general population. To our knowledge, the present study is the first to concurrently examine unique and overlapping relations among ADHD/ASD symptoms, emotion regulation, and social difficulties using multi-informant measures (parent, teacher) with a clinically-evaluated sample of 108 children ages 8-13 (40 girls; 66% White/Non-Hispanic) with and without clinically-elevated ASD and ADHD symptoms and other common clinical disorders. Bias-corrected, bootstrapped conditional effects modeling revealed that ADHD-inattentive (β=-0.23) and ASD-social communication (β=-0.20) symptoms predicted social impairment directly, whereas ADHD-hyperactive/impulsive (β=-0.06) and ASD-restricted/repetitive behavior/interests (β=-0.06) symptoms predicted social impairment only via their shared associations with emotion dysregulation. Sensitivity analyses revealed that most relations were robust to control for item overlap across measures. In contrast, only the ADHD-inattention/social impairment link was robust to control for mono-informant bias, highlighting the importance of multi-informant methods and the potential for different determinants of social functioning across settings. Overall, this study implicates emotion regulation skills and all four ADHD/ASD symptom clusters as potential influences on children’s social functioning, albeit with a more nuanced and potentially setting-specific pattern than suggested by prior work.

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22. Korošec K, Osika W, Bojner-Horwitz E. « It is more Important than food sometimes »; Meanings and Functions of Music in the Lives of Autistic Adults Through a hermeneutic-phenomenological Lense. Journal of autism and developmental disorders. 2022.

Subjective experiences of autistic adults remain under-researched, especially in the field of art. To learn more about their uses and functions of music, we interviewed 13 autistic adults and through a hermeneutic-phenomenological analysis found four overarching themes: Well-being, Identity and self-development, Connectedness, and Negative experiences. Findings show a broad and deep meaning of music in their lives, spanning from seemingly trivial functions such as making chores more enjoyable, to existential questions, such as choosing to stay alive. We discuss the often-overlooked negative effects or experiences of music, noting that positive and negative effects must always be addressed together if we are to use music to lower stress and support well-being.

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23. Leitão E, Schröder C, Parenti I, Dalle C, Rastetter A, Kühnel T, Kuechler A, Kaya S, Gérard B, Schaefer E, Nava C, Drouot N, Engel C, Piard J, Duban-Bedu B, Villard L, Stegmann APA, Vanhoutte EK, Verdonschot JAJ, Kaiser FJ, Tran Mau-Them F, Scala M, Striano P, Frints SGM, Argilli E, Sherr EH, Elder F, Buratti J, Keren B, Mignot C, Héron D, Mandel JL, Gecz J, Kalscheuer VM, Horsthemke B, Piton A, Depienne C. Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nature communications. 2022; 13(1): 6570.

Disease gene discovery on chromosome (chr) X is challenging owing to its unique modes of inheritance. We undertook a systematic analysis of human chrX genes. We observe a higher proportion of disorder-associated genes and an enrichment of genes involved in cognition, language, and seizures on chrX compared to autosomes. We analyze gene constraints, exon and promoter conservation, expression, and paralogues, and report 127 genes sharing one or more attributes with known chrX disorder genes. Using machine learning classifiers trained to distinguish disease-associated from dispensable genes, we classify 247 genes, including 115 of the 127, as having high probability of being disease-associated. We provide evidence of an excess of variants in predicted genes in existing databases. Finally, we report damaging variants in CDK16 and TRPC5 in patients with intellectual disability or autism spectrum disorders. This study predicts large-scale gene-disease associations that could be used for prioritization of X-linked pathogenic variants.

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24. Li L, Wen G, Cao P, Liu X, O RZ, Yang J. Exploring interpretable graph convolutional networks for autism spectrum disorder diagnosis. International journal of computer assisted radiology and surgery. 2022.

PURPOSE: Finding the biomarkers associated with autism spectrum disorder (ASD) is helpful for understanding the underlying roots of the disorder and can lead to earlier diagnosis and more targeted treatments. In essence, we are faced with two challenges (i) how to learn a node representation and a clean graph structure from original graph data with high dimensionality and (ii) how to jointly model the procedure of node representation learning, structure learning and graph classification. METHODS: We propose FSL-BrainNet, an interpretable graph convolution network (GCN) model for jointly Learning of node Features and clean Structures in brain networks for automatic brain network classification and interpretation. We formulate an end-to-end trainable and interpretable framework for graph classification and biomarkers (salient brain regions and potential subnetworks) identification. RESULTS: The experimental results on the ABIDE dataset show that our proposed methods not only achieve improved prediction performance compared with the state-of-the-art methods, but also find a compact set of highly suggestive biomarkers including relevant brain regions and subnetworks to ASD. CONCLUSION: Through node feature learning and structure learning, our model can simultaneously select important brain regions and identify subnetworks.

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25. Mayer AV, Preckel K, Ihle K, Piecha FA, Junghanns K, Reiche S, Rademacher L, Müller-Pinzler L, Stolz DS, Kamp-Becker I, Stroth S, Roepke S, Küpper C, Engert V, Singer T, Kanske P, Paulus FM, Krach S. Assessment of Reward-Related Brain Function After a Single Dose of Oxytocin in Autism: A Randomized Controlled Trial. Biological psychiatry global open science. 2022; 2(2): 136-46.

BACKGROUND: Autism spectrum disorder (ASD) is characterized by difficulties in social communication and interaction, which have been related to atypical neural processing of rewards, especially in the social domain. As intranasal oxytocin has been shown to modulate activation of the brain’s reward circuit, oxytocin might ameliorate the processing of social rewards in ASD and thus improve social difficulties. METHODS: In this randomized, double-blind, placebo-controlled, crossover functional magnetic resonance imaging study, we examined effects of a 24-IU dose of intranasal oxytocin on reward-related brain function in 37 men with ASD without intellectual impairment and 37 age- and IQ-matched control participants. Participants performed an incentive delay task that allows the investigation of neural activity associated with the anticipation and receipt of monetary and social rewards. RESULTS: Nonsignificant tests suggested that oxytocin did not influence neural processes related to the anticipation of social or monetary rewards in either group. Complementary Bayesian analyses indicated moderate evidence for a null model, relative to an alternative model. Our results were inconclusive regarding possible oxytocin effects on amygdala responsiveness to social rewards during reward consumption. There were no significant differences in reward-related brain function between the two groups under placebo. CONCLUSIONS: Our results do not support the hypothesis that intranasal oxytocin generally enhances activation of reward-related neural circuits in men with and without ASD.

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26. Ming Y, Deng Z, Tian X, Jia Y, Ning M, Cheng S. m6A Methyltransferase METTL3 Reduces Hippocampal Neuron Apoptosis in a Mouse Model of Autism Through the MALAT1/SFRP2/Wnt/β-catenin Axis. Psychiatry investigation. 2022; 19(10): 771-87.

OBJECTIVE: Hippocampal neuron apoptosis contributes to autism, while METTL3 has been documented to possess great potentials in neuron apoptosis. Our study probed into the role of METTL3 in neuron apoptosis in autism and to determine the underlying mechanism. METHODS: Bioinformatics analysis was used to analyze expressed genes in autism samples. Institute of Cancer Research mice were treated with valproic acid to develop autism models. The function of METTL3 in autism-like symptoms in mice was analyzed with behavioral tests and histological examination of their hippocampal tissues. Primary mouse hippocampal neurons were extracted for in vitro studies. Downstream factors of METTL3 were explored and validated. RESULTS: METTL3, MALAT1, and Wnt/β-catenin signaling were downregulated, while SFRP2 was upregulated in the hippocampal tissues of a mouse model of autism. METTL3 stabilized MALAT1 expression by promoting m6A modification of MALAT1. MALAT1 promoted SFRP2 methylation and led to reduced SFRP2 expression by recruiting DNMT1, DNMT3A, and DNMT3B to the promoter region of SFRP2. Furthermore, SFRP2 facilitated activation of the Wnt/β-catenin signaling. By this mechanism, METTL3 suppressed autism-like symptoms and hippocampal neuron apoptosis. CONCLUSION: This research suggests that METTL3 can reduce autism-like symptoms and hippocampal neuron apoptosis by regulating the MALAT1/SFRP2/Wnt/β-catenin axis.

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27. Nestorowich DL, Lupien SP, Madaus Knapp V. Perceptions of Behaviors Associated with ASD in Others: Knowledge of the Diagnosis Increases Empathy and Improves Perceptions of Warmth and Competence. European journal of investigation in health, psychology and education. 2022; 12(11): 1594-606.

Individuals with Autism Spectrum Disorder (ASD) often exhibit atypical social behaviors that some may perceive as odd or discomforting. Given that ASD is largely invisible, it may be difficult to understand why a person is displaying these atypical behaviors, leading to less favorable attitudes. The current study aimed to examine if having an explanation for an individual exhibiting behaviors associated with ASD could improve perceptions of warmth and competence, as well as the amount of empathy felt towards the individual. Participants (n = 82) were presented with a scenario involving two people, one of whom exhibited behaviors consistent with ASD. ASD diagnosis information was manipulated, such that half of the participants were told that the target was diagnosed with ASD, and the other half were given no diagnostic information. Afterwards, participants rated the target. Results indicated that having an explanation for the ASD-related behaviors led to higher ratings of warmth and competence and greater feelings of empathy. Furthermore, empathy mediated the relationship between having the diagnostic information and target ratings. Thus, having an explanation for someone’s behavior may lead to greater feelings of empathy and improve perceptions and understanding. This has important implications for improving education and awareness about behaviors associated with ASD as well as for making the decision of whether or not to disclose one’s diagnosis.

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28. Olivas AN, Kendall MR, Parada A, Manning R, Eggleston JD. Children with autism display altered ankle strategies when changing speed during over-ground gait. Clinical biomechanics (Bristol, Avon). 2022; 100: 105804.

BACKGROUND: Examining gait mechanics when altering speed has been used in various clinical populations to understand the pervasiveness of neurological impairments. Few studies have examined whether different gait mechanics exist when altering speed in children with Autism Spectrum Disorder, although autism may present as a movement disorder due to abnormalities in the central nervous system. Most autism gait-related research has used preferred walking speed, while different speeds may yield discernible patterns that can be used for future interventions. The purpose of this study was to examine kinematic strategies used by children with autism in preferred, fast, and slow walking speeds. METHODS: Three-dimensional kinematic data were obtained on 14 children (aged 8-17 years) during preferred, fast, and slow walking. Hip, knee, and ankle angular joint positions were examined at loading response, pre-swing, and terminal swing sub-phases due to their importance on forward propulsion and weight transfer. Repeated measures analyses of variance (α = 0.05) were used to test for statistical differences and effect sizes were interpreted with Cohen’s d. FINDINGS: Although significant differences were observed for each joint and sub-phase, the left and right ankle joints during pre-swing displayed the most consistent differences among conditions (p < 0.001, and p < 0.001), respectively. Additionally, the left ankle displayed a moderate effect size (η(2) = 0.71) and the right ankle displayed a large effect size (η(2) = 0.80). INTERPRETATIONS: These findings reveal that the ankle joint, during pre-swing, is the primary kinematic strategy used by children with autism when altering gait speed, whereas previous evidence suggests that the hip joint was the primary strategy.

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29. Paketçi C, Ermiş Ç, Şişman AR, Hız S, Baykara B, Yiş U. Blood neurofilament light chain and thrombospondin-1 levels of patients with autism spectrum disorder. Turkish journal of medical sciences. 2022; 52(4): 1041-9.

BACKGROUND: Neurofilaments are intermediary filaments associated with neurodegenerative processes. Thrombospondin-1 (TSP-1) is a biological marker playing a role in synaptogenesis. This study aimed to investigate serum neurofilament light chain (NFL), and TSP1 levels of patients with autism spectrum disorder (ASD) compared to typically developing (TD) children. METHODS: Forty-three patients with ASD and forty-five TD children were included. Serum biomarker levels were measured using the sandwich ELISA technique. The Childhood Autism Rating Scale (CARS) was implemented to measure the severity of ASD. RESULTS: NFL and TSP1 levels did not differ between study groups (For NFL, ASD = 47.8 ± 11.4 vs. TD = 48.2 ± 15.3 pg/mL, p = 0.785; for TSP1, ASD = 224.4 ± 53.7 vs. TD = 224.7 ± 69.0 ng/mL, p = 0.828). Stereotyped behavior and sensory sensitivity domain of the CARS scale was negatively correlated with serum TSP-1 (r = -0.390, p = 0.010) and NFL (r = -0.377, p = 0.013) levels. Age was also positively correlated with NFL levels (r = 0.332, p = 0.030) in the ASD groups but not in the TD group. DISCUSSION: Our results did not support the neurodegenerative process of ASD. Future studies are needed to investigate neuroprogression in a longitudinal follow-up.

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30. Quetsch LB, Bradley RS, Theodorou L, Newton K, McNeil CB. Community-based Agency Delivery of Parent-Child Interaction Therapy: Comparing Outcomes for Children with and Without Autism Spectrum Disorder and/or Developmental Delays. Journal of autism and developmental disorders. 2022.

While externalizing behaviors are common among children with autism spectrum disorder (ASD), there is a shortage of specialist community-based clinicians to provide treatment. Parent-Child Interaction Therapy (PCIT), an intervention designed to reduce child disruptive behaviors, may be effective for families of children with ASD but has rarely been studied outside of university-based research settings. We examined the effectiveness of PCIT delivered for children with (N = 109) and without (N = 2,324) ASD/developmental delays (DD) across community-based agencies in Oregon. Findings revealed significant reductions in disruptive behavior and positive changes in the parent-child relationship in both groups. These findings support PCIT as an efficacious intervention for children with ASD/DD and demonstrate PCIT’s promise in community-based agencies with non-specialized clinicians.

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31. 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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32. Simmons DH, Busch SE, Titley HK, Grasselli G, Shih J, Du X, Wei C, Gomez CM, Piochon C, Hansel C. Sensory Over-responsivity and Aberrant Plasticity in Cerebellar Cortex in a Mouse Model of Syndromic Autism. Biological psychiatry global open science. 2022; 2(4): 450-9.

BACKGROUND: Patients with autism spectrum disorder often show altered responses to sensory stimuli as well as motor deficits, including an impairment of delay eyeblink conditioning, which involves integration of sensory signals in the cerebellum. Here, we identify abnormalities in parallel fiber (PF) and climbing fiber (CF) signaling in the mouse cerebellar cortex that may contribute to these pathologies. METHODS: We used a mouse model for the human 15q11-13 duplication (patDp/+) and studied responses to sensory stimuli in Purkinje cells from awake mice using two-photon imaging of GCaMP6f signals. Moreover, we examined synaptic transmission and plasticity using in vitro electrophysiological, immunohistochemical, and confocal microscopic techniques. RESULTS: We found that spontaneous and sensory-evoked CF-calcium transients are enhanced in patDp/+ Purkinje cells, and aversive movements are more severe across sensory modalities. We observed increased expression of the synaptic organizer NRXN1 at CF synapses and ectopic spread of these synapses to fine dendrites. CF-excitatory postsynaptic currents recorded from Purkinje cells are enlarged in patDp/+ mice, while responses to PF stimulation are reduced. Confocal measurements show reduced PF+CF-evoked spine calcium transients, a key trigger for PF long-term depression, one of several plasticity types required for eyeblink conditioning learning. Long-term depression is impaired in patDp/+ mice but is rescued on pharmacological enhancement of calcium signaling. CONCLUSIONS: Our findings suggest that this genetic abnormality causes a pathological inflation of CF signaling, possibly resulting from enhanced NRXN1 expression, with consequences for the representation of sensory stimuli by the CF input and for PF synaptic organization and plasticity.

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33. Stoccoro A, Gallo R, Calderoni S, Cagiano R, Muratori F, Migliore L, Grossi E, Coppedè F. Artificial neural networks reveal sex differences in gene methylation, and connections between maternal risk factors and symptom severity in autism spectrum disorder. Epigenomics. 2022; 14(19): 1181-95.

Aim and methods: Artificial neural networks were used to unravel connections among blood gene methylation levels, sex, maternal risk factors and symptom severity evaluated using the Autism Diagnostic Observation Schedule 2 (ADOS-2) score in 58 children with autism spectrum disorder (ASD). Results: Methylation levels of MECP2, HTR1A and OXTR genes were connected to females, and those of EN2, BCL2 and RELN genes to males. High gestational weight gain, lack of folic acid supplements, advanced maternal age, preterm birth, low birthweight and living in rural context were the best predictors of a high ADOS-2 score. Conclusion: Artificial neural networks revealed links among ASD maternal risk factors, symptom severity, gene methylation levels and sex differences in methylation that warrant further investigation in ASD.

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34. Yang X, Li J, Zhou Y, Zhang N, Liu J. Effect of stigma maydis polysaccharide on the gut microbiota and transcriptome of VPA induced autism model rats. Frontiers in microbiology. 2022; 13: 1009502.

Stigma maydis polysaccharide (SMPS) is a plant polysaccharide that participates in immune regulation and gastrointestinal motility. Autism spectrum disorder (ASD) refers to a group of neurodevelopmental disorders, and ASD patients often present intestinal microflora imbalance problems; however, there is no effective treatment method. This study explores the effect of SMPS intervention on the gut microbiota in autism model rats as well as the potential action pathways. Female Wistar rats were intraperitoneally injected with sodium valproic acid (VPA) or normal saline at embryonic day 12.5 to establish an autism model or normal control in their offspring. The offspring prenatally exposed to VPA were randomly assigned to the VPA and the SMPS groups. The SMPS group was administered SMPS from E0.5 to postnatal day (PND) 21. We performed 16S rRNA and transcriptomics analyses to reveal the gut microbiota (GM) and differentially expressed genes in the autism model rats in response to SMPS intervention. SMPS intervention significantly improved the diversity and structure of the GM in autism model rats compared with the VPA rats. Moreover, the relative abundance of Prevotellaceae and Lachnospiraceae_NK4A136_group was increased after SMPS intervention. Transcriptome sequencing showed that 496 differentially expressed genes (DEGs) were identified after SMPS administration compared with the VPA group. Meanwhile, gene ontology (GO) enrichment analysis of DEGs was showed that the SMPS group had significant 653 GO terms. SMPS intervention had a major influence on oxidative phosphorylation, retrograde endocannabinoid signaling, thermogenesis, ribosome, protein digestion and absorption, renin-angiotensin system, calcium signaling pathway, glycosphingolipid biosynthesis-ganglio series, and propanoate metabolism pathways. Overall, this study suggests that SMPS interventions in early life may have an impact on gut microbiota, and then affect the transcriptomics levels of the hippocampal tissue in the VPA-induced autism model rats. It provides scientific evidence for the role of the microbe-gut-brain axis in ASD research.

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35. Yoshida A, Kumazaki H, Muramatsu T, Yoshikawa Y, Ishiguro H, Mimura M. Intervention with a humanoid robot avatar for individuals with social anxiety disorders comorbid with autism spectrum disorders. Asian journal of psychiatry. 2022; 78: 103315.

For some individuals with social anxiety disorders (SAD) comorbid with autism spectrum disorders (ASD), it is difficult to speak in front of others. Herein, we report the case of a patient with SAD comorbid with ASD who could not speak in front of others until she used a humanoid robot as her avatar. During the intervention, her personality changed from shy to outgoing, which is explained by the Proteus effect. These case findings suggest that interventions with a robot avatar might improve the motivation for individuals with SAD comorbid with ASD who cannot speak in front of others to communicate.

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36. Zheng S, Kaat A, Farmer C, Thurm A, Burrows CA, Kanne S, Georgiades S, Esler A, Lord C, Takahashi N, Nowell KP, Will E, Roberts J, Bishop SL. Corrigendum: Bias in measurement of autism symptoms by spoken language level and non-verbal mental age in minimally verbal children with neurodevelopmental disorders. Frontiers in psychology. 2022; 13: 1051464.

[This corrects the article DOI: 10.3389/fpsyg.2022.927847.].

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