1. Alò R, Olivito I, Fazzari G, Zizza M, Di Vito A, Avolio E, Mandalà M, Bruno R, Tullio B, Canonaco M, Facciolo RM. Correlation of Distinct Behaviors to the Modified Expression of Cerebral Shank1,3 and BDNF in Two Autistic Animal Models. Behav Brain Res. 2021 : 113165.

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder featuring altered neuronal circuitry and consequently impaired social interactions, restrictive interests plus repetitive stereotypic activities. In the present study, differentiated behaviors of valproic (VPA) and propionic (PPA) acid-mediated autism rats were correlated to cerebral scaffolding proteins (Shank1,3) and BDNF expression variations. Sprague-Dawley offspring that received VPA during pregnancy displayed a notably diminished permanence (-78%, p < 0.01) in light chamber of light dark (LD) test, reduced exploratory tasks, i.e. grooming (-90%) and rearing (-65%). Moreover, they executed extremely greater climbing intervals (+300%, p < 0.001) in novel cage (NC) test, plus exhibited an extremely reduced (-331%) discrimination index in novel object recognition (NOR) test when compared to controls. PPA-treated postnatal days (PND) 12-16 rats also displayed anxiety-like behaviors, although in a less evident manner, as indicated by a moderate time (+55% ; p < 0.05) spent in dark chamber along with notable and moderate decreases in digging (-78%) plus grooming (-52%), respectively. Contextually, VPA- more than PPA supplied opposite Shank1,3 expression changes in cerebellum (CB ; -62% ; +78%), dorsomedial prefrontal cortex (DM-PFC ; +95% -76%), respectively, while resulting extremely upregulated in hippocampus (HIP ; +125% - +155%). Even BDNF resulted to be substantially and notably diminished in HIP (-85%) and DM-PFC (-72%), respectively, of VPA rats while it was only moderately reduced (-35% to -45%) in these same areas of PPA rats. The early altered brain-specific expression levels accounting for different behavioral performances may provide useful diagnostic indications and constitute valuable therapeutic strategies for autistic patients.

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2. Amor AM, Navas P, Verdugo M, Crespo M. Perceptions of people with intellectual and developmental disabilities about COVID-19 in Spain : a cross-sectional study. J Intellect Disabil Res. 2021.

BACKGROUND : As the world battles COVID-19, there is a need to study the perceptions of people with intellectual and developmental disabilities (IDD) about the effects of the pandemic and associated lockdown on their lives. This work explores the perceptions of Spaniards with IDD during the lockdown with respect to four topics : access to information, emotional experiences, effects on living conditions and access to support. METHODS : The topics were explored using a subset of 16 closed-ended questions from an online survey. In total, 582 participants with IDD completed the survey. The frequencies and percentages of responses to the questions were calculated, and chi-square tests performed to explore the relationship between participants’ sociodemographic characteristics and responses. Given that people differed in the way in which they completed the survey, the relationship between participants’ responses and completion method was also analysed. RESULTS : Participants reported that the pandemic and subsequent lockdown have had a deleterious effect on their emotional well-being (around 60.0% of participants) and occupations (48.0% of students and 72.7% of workers). Although access to information and support was reportedly good overall, being under the age of 21 years and studying were associated with perceptions reflecting poorer access to information (V = .20 and V = .13, respectively) and well-being support (V = .15 and V = .13, respectively). Being supported by a third party to complete the survey was consistently related to perceptions of worse outcomes. CONCLUSIONS : The study yielded data on the perceptions of people with IDD regarding the effects that COVID-19 and the subsequent lockdown have had on their lives. Suggestions on how to overcome the difficulties reported and future lines of research are discussed.

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3. Bölte S. « We believe in good jobs, fair jobs, dignifying jobs that give you a good sense of identity » : Career and job guidance counseling in autism. Autism. 2021 : 1362361321990325.

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4. Cerullo S, Fulceri F, Muratori F, Contaldo A. Acting with shared intentions : A systematic review on joint action coordination in Autism Spectrum Disorder. Brain and cognition. 2021 ; 149 : 105693.

BACKGROUND : Joint actions, described as a form of social interaction in which individuals coordinate their actions in space and time to bring about a change in the environment, rely on sensory-motor processes that play a role in the development of social skills. Two brain networks, associated with « mirroring » and « mentalizing », are engaged during these actions : the mirror neuron and the theory of mind systems. People with autism spectrum disorder (ASD) showed impairment in interpersonal coordination during joint actions. Studying joint action coordination in ASD will contribute to clarify the interplay between sensory-motor and social processes throughout development and the interactions between the brain and the behavior. METHOD : This review focused on empirical studies that reported behavioral and kinematic findings related to joint action coordination in people with ASD. RESULTS : Literature on mechanisms involved in the joint action coordination impairment in ASD is still limited. Data are controversial. Different key-components of joint action coordination may be impaired, such as cooperative behavior, temporal coordination, and motor planning. CONCLUSIONS : Interpersonal coordination during joint actions relies on early sensory-motor processes that have a key role in guiding social development. Early intervention targeting the sensory-motor processes involved in the development of joint action coordination could positively support social skills.

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5. Chen J, Strodl E, Huang LH, Chen JY, Liu XC, Yang JH, Chen WQ. Associations between Prenatal Education, Breastfeeding and Autistic-Like Behaviors in Pre-Schoolers. Children (Basel, Switzerland). 2021 ; 8(2).

This study aimed to investigate the association between prenatal education and autistic-like behaviors of preschoolers as well as the mediating role of breastfeeding in their associations. A cross-sectional study via a structured questionnaire was conducted with 67,578 preschool children and parents from Longhua District of Shenzhen, China. Hierarchical logistic regression models were performed to explore the associations between maternal participation in prenatal education and autistic-like behaviors in preschoolers, as well as the mediating effect of breastfeeding in the associations. After controlling for potential confounders, logistic regression analysis indicated that maternal participation in prenatal education could significantly increase the prevalence of breastfeeding, and the strength of the association was enhanced with the increase frequency of prenatal education visits (ORs ranging from 1.191 to 1.899). While both maternal participation in prenatal education (ORs ranging from 0.732 to 0.798) and breastfeeding (OR = 0.773) were significantly associated with the lower presence of autistic-like behaviors in preschoolers. The crossover analysis indicated that children with both maternal prenatal education and breastfeeding had the lower risk of presence of autistics-like behaviors (OR = 0.569). Furthermore, mediation analysis illustrated that breastfeeding mediated the association between maternal participation in prenatal education and the presence of autistic-like behaviors in preschoolers, with a mediating effect of approximately 14.3%. Our findings suggest that maternal participation in prenatal education is significantly associated with a decreased risk of autistic-like behaviors in preschool children through increased breastfeeding in the mothers who attended prenatal education.

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6. Critchley E, Cuadros M, Harper I, Smith-Howell H, Rogish M. A parent-sibling dyadic interview to explore how an individual with Autism Spectrum Disorder can impact family dynamics. Res Dev Disabil. 2021 ; 111 : 103884.

BACKGROUND : Autism Spectrum Disorder (ASD) is a life-long condition which affects the individual and their family system. Little research understands the impact of an ASD upon families, how this may change over time and how COVID-19 has impacted these dynamics. AIMS : To explore the impact of an ASD on the lived experiences of parents and neurotypical adult siblings, including during the UK COVID-19 lockdown. METHODS : Eight parent-sibling dyads (16 individuals) completed semi-structured interviews discussing their family before, during and after receiving the ASD diagnosis, and in relation to the first UK lockdown. Interview transcripts were analysed using Interpretative Phenomenological Analysis. RESULTS : Three super-ordinate themes were identified : Dominated by ASD ; Family Cohesion ; and the Need for Support. CONCLUSIONS : The data suggested a closeness within the families and an adoration towards the individual with ASD (IWA). Dyads were, to an extent, consumed by the diagnosis both presently and in the future, implicating the need for a stretch in services to support parents and neurotypical siblings. In terms of the first UK lockdown, the IWA added an extra layer of difficulty to the dyads work-life balance yet there was an essence of family cohesion. Future research should consider longitudinal methods and explore the impact of ASD co-morbidities upon family dynamics.

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7. Croall ID, Hoggard N, Hadjivassiliou M. Gluten and Autism Spectrum Disorder. Nutrients. 2021 ; 13(2).

An expanding body of literature is examining connections between Autism Spectrum Disorder (ASD) and dietary interventions. While a number of specialist diets have been suggested as beneficial in ASD, gluten has received particularly close attention as a potentially exacerbating factor. Reports exist suggesting a beneficial effect of the gluten-free diet (GFD) in ameliorating behavioural and intellectual problems associated with ASD, while epidemiological research has also shown a comorbidity between ASD and coeliac disease. However, both caregivers and clinicians have expressed an uncertainty of the value of people with ASD going gluten-free, and as the GFD otherwise receives considerable public attention a discussion which focuses specifically on the interaction between ASD and gluten is warranted. In this review we discuss the historical context of ASD and gluten-related studies, and expand this to include an overview of epidemiological links, hypotheses of shared pathological mechanisms, and ultimately the evidence around the use and adoption of the GFD in people with ASD.

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8. Dai L, Weiss RB, Dunn DM, Ramirez A, Paul S, Korenberg JR. Core Transcriptional Networks in Williams Syndrome : IGF1-PI3K-AKT-mTOR, MAPK and Actin Signaling at the Synapse Echo Autism. Hum Mol Genet. 2021.

Gene networks for disorders of social behavior provide the mechanisms critical for identifying therapeutic targets and biomarkers. Large behavioral phenotypic effects of small human deletions make the positive sociality of Williams syndrome (WS) ideal for determining transcriptional networks for social dysfunction currently based on DNA variations for disorders such as Autistic spectrum disorder (ASD). Consensus on WS networks has been elusive due to the need for larger cohort size, sensitive genome wide detection, and analytic tools. We report a core set of WS network perturbations in a cohort of 58 individuals (34 with typical, six atypical deletions and 18 controls). Genome-wide exon-level expression arrays robustly detected changes in differentially expressed gene (DEG) transcripts from WS deleted genes that ranked in the top 11 of 12 122 transcripts, validated by qRT-PCR, RNASeq and Western blots. WS DEG’s were strictly dosed in the full but not the atypical deletions that revealed a breakpoint position effect on non-deleted CLIP2, a caveat for current phenotypic mapping based on CNV. Network analyses tested the role of the top WS DEG’s in the dendritic spine, employing GeneMANIA to harmonize WS DEGs with comparable query gene-sets. The results indicate perturbed actin cytoskeletal signaling analogous to the excitatory dendritic spine. Independent Protein-Protein Interaction analyses of top WS DEGs generated a 100-node graph annotated topologically revealing three interacting pathways, MAPK, IGF1-PI3K-AKT-mTOR/insulin, and actin signaling at the synapse. The results indicate striking similarity of WS transcriptional networks to GWAS-based ASD risk suggesting common network dysfunction for these disorders of divergent sociality.

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9. Davis R, Crompton CJ. What Do New Findings About Social Interaction in Autistic Adults Mean for Neurodevelopmental Research ?. Perspectives on psychological science : a journal of the Association for Psychological Science. 2021 : 1745691620958010.

Deficit-based accounts of social and communication abilities continue to dominate autism research. However, emerging findings suggest that this view may be overly simplistic and discount the two-way nature of interaction. Here we discuss the reconceptualization of social cognition to consider such difficulties as examples of bidirectional, multifaceted misattunement between autistic and nonautistic individuals. Aligned with progressive theoretical frameworks, emerging empirical research indicates that mismatches in communication styles can contribute to autistic social difficulties and the important role that nonautistic difficulties play. We highlight two areas of future research with the aim of providing empirical support for the views that the autistic community has proposed over the past 2 decades. We discuss the impact of such a paradigm shift on a number of levels, including how bridging the gap between different interaction styles can reduce stigma and increase understanding. Adopting such a framework will provide radical opportunities for transformative societal changes and education around inclusion.

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10. de Korte MWP, van den Berk-Smeekens I, Buitelaar JK, Staal WG, van Dongen-Boomsma M. Pivotal Response Treatment for School-Aged Children and Adolescents with Autism Spectrum Disorder : A Randomized Controlled Trial. J Autism Dev Disord. 2021.

Pivotal Response Treatment (PRT) is promising for children with Autism Spectrum Disorder (ASD), but more methodologically robust designed studies are needed. In this randomized controlled trial, forty-four children with ASD, aged 9-15 years, were randomly allocated to PRT (n = 22) or treatment-as-usual (TAU ; n = 22). Measurements were obtained after 12- and 20-weeks treatment, and 2-month follow-up. PRT resulted in significant greater improvements on parent-rated social-communicative skills after 12 weeks treatment (p = .004, partial η(2) = 0.22), compared to TAU. Furthermore, larger gains in PRT compared to TAU were observed on blindly rated global functioning, and parent-rated adaptive socialization skills and attention problems. Implications for clinical practice and suggestions for future research are discussed.

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11. Hillier A, Poto N, Schena D, 2nd, Dorey J, Buckingham A, Santangelo M, Frye A. Overview of a Life Skills Coaching Program for Adults on the Autism Spectrum : Coaches’ Perspectives. Psychological reports. 2021 : 33294121991021.

There is considerable need to identify effective service provision models to support adults on the autism spectrum as they seek to lead independent lives. This study outlines an individualized life skills coaching program for adults with autism, « LifeMAP », and the experiences and perspectives of the coaches. Responses on a tailored questionnaire provided detailed insight into how the coaches were performing their job, the strategies they utilized, reasons for client success and difficulty, challenges faced by the coaches, and ways they were supported by program staff. Coaches’ job self-efficacy and satisfaction were also examined. This study serves as a preliminary examination of individualized coaching for adults with autism from the coaches’ perspective.

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12. Holyfield C. Comparative Effects of Picture Symbol With Paired Text and Text-Only Augmentative and Alternative Communication Representations on Communication From Children With Autism Spectrum Disorder. American journal of speech-language pathology. 2021 : 1-14.

Purpose Technology features that maximize communicative benefit while minimizing learning demands must be identified and prioritized to amplify the efficiency and effectiveness of augmentative and alternative communication (AAC) intervention. Picture symbols with paired text are a common representation feature in AAC systems for children with autism spectrum disorder (ASD) who are preliterate, yet little research about their comparative benefit exists. Method Four school-age children with ASD and limited speech who were preliterate participated in two single-subject studies. In one study, communication of high imageability words (e.g., nouns) on an AAC app during a book-reading activity was compared across two representation conditions : picture symbols with paired text and text only. In the second study, communication of low imageability words (e.g., verbs) was compared. Both studies had baseline, intervention, generalization, and maintenance phases. Results Prior to intervention, participants communicated across both representation conditions at low rates except two participants who were relatively successful using picture symbol with paired text representations of high imageability words. In response to intervention, all participants demonstrated increases in communication across representation conditions and maintained the increases. Participants demonstrated generalization in the text-only representation condition. Conclusions Children with ASD who were preliterate acquired communication at comparable rates regardless of whether an AAC app utilized picture symbol with paired text or text-only representation. Therefore, while larger scale research is needed, clinicians and technology developers could consider increasing the use of text in AAC representation given the inherent value associated with learning to recognize written words. Supplemental Material https://doi.org/10.23641/asha.13661357.

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13. Miniscalco C, Carlsson E. A longitudinal case study of six children with autism and specified language and non-verbal profiles. Clinical linguistics & phonetics. 2021 : 1-19.

Language skills as well as general cognitive skills show a considerable variation in children with autism spectrum disorder (ASD). In previous studies, at least three profiles based on these skills have been suggested ; autism with language and non-verbal cognitive skills within the average/normal range (ALN), autism with language disorder (ALD) without concurrent non-verbal cognitive disability, and autism with language disorder and cognitive disability, i.e. autism with a more general delay (AGD). The aim of the present longitudinal case study is to illustrate these three groups more thorough by presenting the developmental trajectories of children belonging to each profile. Six children were chosen based on their language and cognitive profiles from the first age 3-year assessment. They came from a larger group of children with ASD identified by autism screening at child health-care centres at age 2.5 years. These six children represent one boy and one girl from each of the three subgroups ALN, ALD and AGD, and were assessed a second time at age 5 and a third time at age 8 years, regarding expressive and receptive language skills, autistic severity and non-verbal cognitive skills. Although preliminary, our results indicate a rather stable developmental trajectory from age 3 to 8 years characterising children with autism based on language and non-verbal cognitive functioning. Thus, in order to help intervention planning and increase predictions of outcome, it seems important to specify both linguistic and cognitive level already at the first assessment in children with ASD.

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14. Parma V, Cellini N, Guy L, McVey AJ, Rump K, Worley J, Maddox BB, Bush J, Bennett A, Franklin M, Miller JS, Herrington J. Profiles of Autonomic Activity in Autism Spectrum Disorder with and without Anxiety. J Autism Dev Disord. 2021.

Both anxiety and autism spectrum disorder (ASD) are associated with atypical physiological activity. Few studies have systematically assessed the resting physiological activity in ASD with co-occurring anxiety disorders. We tested 75 participants divided in four groups : youth with ASD, with (ASD + Anxiety = 22, 6F, 12.29 ± 2.83 years old) and without co-occurring anxiety (ASD Alone = 15, 6F, 11.59 ± 2.85 years old) and compared their physiological profile with that of matched typically developing controls (TDC) with (Anxiety Alone = 16, 6F, 11.24 ± 3.36 years old) and without co-occurring anxiety disorders (TDC = 22, 8F, 11.88 ± 2.88 years old). Results indicated reduced sympathetic and parasympathetic activity at rest in ASD as compared to TDC youth. ASD + Anxiety and Anxiety Alone groups showed different sympathetic, but similar parasympathetic activity. These findings suggest that autonomic profile-based approaches may advance research, diagnosis, and treatment of ASD and anxiety.

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15. Williams ZJ, Suzman E, Woynaroski TG. Prevalence of Decreased Sound Tolerance (Hyperacusis) in Individuals With Autism Spectrum Disorder : A Meta-Analysis. Ear and hearing. 2021.

OBJECTIVES : Hyperacusis, defined as decreased tolerance to sound at levels that would not trouble most individuals, is frequently observed in individuals with autism spectrum disorder (ASD). Despite the functional impairment attributable to hyperacusis, little is known about its prevalence or natural history in the ASD population. The objective of this study was to conduct a systematic review and meta-analysis estimating the current and lifetime prevalence of hyperacusis in children, adolescents, and adults with ASD. By precisely estimating the burden of hyperacusis in the ASD population, the present study aims to enhance recognition of this particular symptom of ASD and highlight the need for additional research into the causes, prevention, and treatment of hyperacusis in persons on the spectrum. DESIGN : We searched PubMed and ProQuest to identify peer-reviewed articles published in English after January 1993. We additionally performed targeted searches of Google Scholar and the gray literature, including studies published through May 2020. Eligible studies included at least 20 individuals with diagnosed ASD of any age and reported data from which the proportion of ASD individuals with current and/or lifetime hyperacusis could be derived. To account for multiple prevalence estimates derived from the same samples, we utilized three-level Bayesian random-effects meta-analyses to estimate the current and lifetime prevalence of hyperacusis. Bayesian meta-regression was used to assess potential moderators of current hyperacusis prevalence. To reduce heterogeneity due to varying definitions of hyperacusis, we performed a sensitivity analysis on the subset of studies that ascertained hyperacusis status using the Autism Diagnostic Interview-Revised (ADI-R), a structured parent interview. RESULTS : A total of 7783 nonduplicate articles were screened, of which 67 were included in the review and synthesis. Hyperacusis status was ascertained in multiple ways across studies, with 60 articles employing interviews or questionnaires and seven using behavioral observations or objective measures. The mean (range) age of samples in the included studies was 7.88 years (1.00 to 34.89 years). The meta-analysis of interview/questionnaire measures (k(3) = 103, nASD = 13,093) estimated the current and lifetime prevalence of hyperacusis in ASD to be 41.42% (95% CrI, 37.23 to 45.84%) and 60.58% (50.37 to 69.76%), respectively. A sensitivity analysis restricted to prevalence estimates derived from the ADI-R (k(3) = 25, nASD = 5028) produced similar values. The estimate of current hyperacusis prevalence using objective/observational measures (k(3) = 8, nASD = 488) was 27.30% (14.92 to 46.31%). Heterogeneity in the full sample of interview/questionnaire measures was substantial but not significantly explained by any tested moderator. However, prevalence increased sharply with increasing age in studies using the ADI-R (BF10 = 93.10, R2Het = 0.692). CONCLUSIONS : In this meta-analysis, we found a high prevalence of current and lifetime hyperacusis in individuals with ASD, with a majority of individuals on the autism spectrum experiencing hyperacusis at some point in their lives. The high prevalence of hyperacusis in individuals with ASD across the lifespan highlights the need for further research on sound tolerance in this population and the development of services and/or interventions to reduce the burden of this common symptom.

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16. Yardeni T, Cristancho AG, McCoy AJ, Schaefer PM, McManus MJ, Marsh ED, Wallace DC. An mtDNA mutant mouse demonstrates that mitochondrial deficiency can result in autism endophenotypes. Proceedings of the National Academy of Sciences of the United States of America. 2021 ; 118(6).

Autism spectrum disorders (ASDs) are characterized by a deficit in social communication, pathologic repetitive behaviors, restricted interests, and electroencephalogram (EEG) aberrations. While exhaustive analysis of nuclear DNA (nDNA) variation has revealed hundreds of copy number variants (CNVs) and loss-of-function (LOF) mutations, no unifying hypothesis as to the pathophysiology of ASD has yet emerged. Based on biochemical and physiological analyses, it has been hypothesized that ASD may be the result of a systemic mitochondrial deficiency with brain-specific manifestations. This proposal has been supported by recent mitochondrial DNA (mtDNA) analyses identifying both germline and somatic mtDNA variants in ASD. If mitochondrial defects do predispose to ASD, then mice with certain mtDNA mutations should present with autism endophenotypes. To test this prediction, we examined a mouse strain harboring an mtDNA ND6 gene missense mutation (P25L). This mouse manifests impaired social interactions, increased repetitive behaviors and anxiety, EEG alterations, and a decreased seizure threshold, in the absence of reduced hippocampal interneuron numbers. EEG aberrations were most pronounced in the cortex followed by the hippocampus. Aberrations in mitochondrial respiratory function and reactive oxygen species (ROS) levels were also most pronounced in the cortex followed by the hippocampus, but absent in the olfactory bulb. These data demonstrate that mild systemic mitochondrial defects can result in ASD without apparent neuroanatomical defects and that systemic mitochondrial mutations can cause tissue-specific brain defects accompanied by regional neurophysiological alterations.

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