1. Autism 101 Commentaries. Autism Res;2022 (Sep 6)

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2. Agarwal R, Wuyke G, Sharma U, Burke SL, Howard M, Li T, Sanchez M, Bastida E. Stress and Anxiety Among Parents of Transition-Aged Children with Autism Spectrum Disorder: a Systematic Review of Interventions and Scales. Rev J Autism Dev Disord;2022 (Sep 1):1-23.

The period between adolescence to young adulthood can be stressful for parents of transition-aged children (14 to 22 years old) with autism spectrum disorder. A systematic review was undertaken to examine if existing interventions address the unique parental stressors of this phase and if the scales used to measure parental stress and anxiety are suitable for this group. Of the 9813 studies screened, only 13 studies met the inclusion criteria. Findings indicated that interventions focused on mindfulness, social functioning, or multiple components, of which only two addressed the transition period and only three specifically targeted parents of this age group. Moreover, of the six scales which assessed stress or anxiety, none were designed for these parents. Findings highlight the urgent need for more suitable scales and targeted interventions.

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3. Bonuck K, Iadarola S, Gao Q, Siegel JF. COVID-19 Vaccines for Children with Developmental Disabilities: Survey of New York State Parents’ Willingness and Concerns. J Dev Behav Pediatr;2022 (Sep 2)

OBJECTIVE: While 1 in 6 US children have a developmental disability (DD), and such children are disproportionately affected by COVID-19, little is known about their vaccination status. We surveyed New York State parents of children with DDs to ascertain willingness and concerns regarding COVID-19 vaccines. METHODS: An online survey was distributed to statewide DD networks from June to September 2021 (vaccines were authorized for adolescents in May 2021). We report associations between vaccine willingness and concerns and race/ethnicity, child age, in-person schooling, routine/flu vaccinations, and DD diagnoses. Willingness was categorized as « got/will get ASAP » (high), « wait and see/only if required, » or « definitely not. » RESULTS: A total of 352 parents (49.1% White) responded. Willingness differed by age (p < 0.001). High willingness was reported for 73.9%, 50.0%, and 36.0% of children aged 12 to 17, 6 to 11, and 0 to 5 years, respectively. Willingness differed by autism diagnosis (p < 0.01) and routine and flu vaccination status (p < 0.001). Predominant concerns included side effects (89%) and children with disabilities not being in trials (80%). Less common concerns were COVID not serious enough in children to warrant vaccine (23%) and misinformation (e.g., microchips, 5G, DNA changes) (24%). Concerns about vaccine safety differed by age (p < 0.01) and were highest for older and then the youngest children. In age-stratified adjusted models, attention-deficit/hyperactivity disorder was negatively associated with high willingness for age 5 or younger (OR = 0.02, 95% confidence interval, <0.001-0.622). CONCLUSION: Parents of children with DD in New York seemed highly willing for them to receive COVID-19 vaccines. Although few factors predicted willingness to vaccinate, addressing safety and developmental concerns regarding young children is warranted. Given their increased vulnerability, improved COVID-19 surveillance for children with DD is warranted.

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4. Chavers TN, Schlosser RW, Cheng C, Koul R. Effects of Interventions Involving Speech Output Technologies on Communication Outcomes for Individuals With Developmental Disabilities: A Scoping Review. Am J Speech Lang Pathol;2022 (Sep 7);31(5):2248-2267.

PURPOSE: This scoping review aimed to map the literature on the effects of interventions involving speech output technologies on communication outcomes for individuals with developmental disabilities other than autism spectrum disorder. METHOD: A scoping review methodology was used to limit bias in searching, selecting, coding, and synthesizing relevant intervention studies. This involved a multifaceted search for studies conducted between 1991 and March 2021 using various electronic databases, ancestry searches, and forward citation searches from selected articles. Studies had to meet stringent inclusion criteria. Each study was summarized in terms of authors, purpose, participants, design, speech output, outcomes, effectiveness, and quality appraisal. RESULTS: Twenty-five single-case experimental design studies (88 participants) and one group design studies (62 participants) qualified for inclusion. Most of the participants had multiple diagnoses followed by a diagnosis of cerebral palsy and Down syndrome. Most studies focused on requesting behaviors and to a much lesser extent on syntactic structure and word identification. A dearth of high-quality studies was identified. CONCLUSIONS: Overall, there is a paucity of high-quality research investigating the effects of speech output technologies for children with developmental disabilities. Additionally, several directions for future research are posited. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.20468928.

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5. Chen GZ, Chang WL, Tan WW, Lin YY, Huang LL, Chen M, Jiang JS, Chang TY, Shi Y. Research on PEP-3 psychological education evaluation system for disabled children and autistic children in minority areas. Eur Rev Med Pharmacol Sci;2022 (Aug);26(16):5786-5792.

OBJECTIVE: Rehabilitation of disabled children with autism has become a challenge for current rehabilitation centres. This study conducted psychological investigations on disabled children and analysed the symptoms and characteristics of autism in these children to develop more reasonable rehabilitation treatment plans that would help the children receive psychological counselling and effective rehabilitation. SUBJECTS AND METHODS: This study investigated 107 disabled children from the Disabled Rehabilitation Research Centre of the South China Minority Autonomous Region. Using the PEP-3 scale as a research tool, a questionnaire was developed to investigate and collect data on the mental health of disabled children. The survey was conducted from 2017 to 2021, and 107 children’s mental health data were collected in the form of questionnaires based on PEP-3 evaluation indicators. After cleaning the data, the questionnaire data were screened and processed. Descriptive statistical and correlation analysis tools were used for model analysis to understand the overall data distribution and the potential relationships among various data variables. RESULTS: The results of correlation analysis showed that cognition, language expression, language understanding, emotion, and social interaction in the subtest of developmental behaviour were the main indicators of the degree of autism in children. These indicators had a strong and significant correlation with the comprehensive score. Moreover, these indicators had a significant correlation with the individual self-care and adaptive behaviours reported by the children’s caregivers. Small muscles, big muscles, and imitation (vision and movement) indicators had a significant correlation with problematic behaviours and physical fitness, and language and cognitive indicators also had a strong correlation with emotion and social interaction. CONCLUSIONS: Emphasis should be placed on the improvement of the language and cognitive abilities of disabled children with autism, and corresponding rehabilitation plans, and training can be formulated according to children with different degrees of illness to get a better rehabilitation outcome. Further, identification of key indicators of autism will be of help in aiding the development of rehabilitation treatment for disabled children with autism and formulation of long-term rehabilitation plans.

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6. Doostparast Torshizi A, Wang K. Tissue-wide cell-specific proteogenomic modeling reveals novel candidate risk genes in autism spectrum disorders. NPJ Syst Biol Appl;2022 (Sep 6);8(1):31.

Autism spectrum disorders (ASD) are a set of complex neurodevelopmental diseases characterized with repetitive behavioral patterns and communication disabilities. Using a systems biology method called MAPSD (Markov Affinity-based Proteogenomic Signal Diffusion) for joint modeling of proteome dynamics and a wide array of omics datasets, we identified a list of candidate ASD risk genes. Leveraging the collected biological signals as well as a large-scale protein-protein interaction network adjusted based on single cell resolution proteome properties in four brain regions, we observed an agreement between the known and the newly identified candidate genes that are spatially enriched in neuronal cells within cerebral cortex at the protein level. Moreover, we created a detailed subcellular localization enrichment map of the known and the identified genes across 32 micro-domains and showed that neuronal cells and neuropils share the largest fraction of signal enrichment in cerebral cortex. Notably, we showed that the identified genes are among the transcriptional biomarkers of inhibitory and excitatory neurons in human frontal cortex. Intersecting the identified genes with a single cell RNA-seq data on ASD brains further evidenced that 20 candidate genes, including GRIK1, EMX2, STXBP6, and KCNJ3 are disrupted in distinct cell-types. Moreover, we showed that ASD risk genes are predominantly distributed in certain human interactome modules, and that the identified genes may act as the regulator for some of the known ASD loci. In summary, our study demonstrated how tissue-wide cell-specific proteogenomic modeling can reveal candidate genes for brain disorders that can be supported by convergent lines of evidence.

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7. Drapalik KN, Grodberg D, Ventola P. Feasibility and Acceptability of Delivering Pivotal Response Treatment for Autism Spectrum Disorder via Telehealth: Pilot Pre-Post Study. JMIR Pediatr Parent;2022 (Sep 6);5(3):e32520.

BACKGROUND: Pivotal response treatment (PRT), an evidence-based and parent-delivered intervention, is designed to improve social communication in autistic individuals. OBJECTIVE: The aim of this study was to assess the feasibility, acceptability, and clinical effects of an online model of PRT delivered via MindNest Health, a telehealth platform that aims to provide self-directed and engaging online modules, real-time coaching and feedback, and accessible stepped-care to large populations of parents seeking resources for their autistic children. METHODS: Male and female autistic children, aged 2-7 years with single-word to phrase-level speech, and their parents were eligible to participate in the study. Families were randomized to the online parent training condition or control condition. The online component of the intervention consisted of eight 20-minute online courses of content describing parent training principles in PRT. Four 1-hour videoconferences were held after course 1, course 3, course 5, and course 8. Parents were given 1-2 weeks to complete each course. Parents completed the Client Credibility Questionnaire (CCQ) at week 2 and at the study endpoint, as well as the Behavioral Intervention Rating Scale (BIRS) at the study endpoint to assess parental expectancies, and treatment acceptability and effectiveness. RESULTS: Nine of 14 participants completed the study curriculum in the online parent training condition, and 6 of 12 participants completed the control condition. Thus, a total of 58% (15/26) participants across both groups completed the study curriculum by study closure. Within the online parent training condition, there was a significant increase in mean CCQ total scores, from 25.38 (SD 3.25) at baseline to 27.5 (SD 3.74) at study endpoint (P=.04); mean CCQ confidence scores, from 6.0 (SD 1.07) at baseline to 6.75 (SD 0.89) at study endpoint (P=.02); and mean CCQ other improvement scores, from 5.25 (SD 0.89) at baseline to 6.25 (SD 1.28) at study endpoint (P=.009). Within the control condition, a modest increase in mean CCQ scores was noted (Confidence, difference=+0.25; Recommend, difference=+0.25; Total Score, difference=+0.50), but the differences were not statistically significant (Confidence P=.38, Recommend P=.36, Total Score P=.43). Among the 11 parents who completed the BIRS at the study endpoint, 82% (n=9) endorsed that they slightly agree or agree with over 93% of the Acceptability factor items on the BIRS. CONCLUSIONS: The feasibility of this online treatment is endorsed by the high rate of online module completion and attendance to videoconferences within the online parent training group. Acceptability of treatment is supported by strong ratings on the CCQ and significant improvements in scores, as well as strong ratings on the BIRS. This study’s small sample size limits the conclusions that can be drawn; however, the PRT MindNest Health platform holds promise to support parents of autistic children who are unable to access traditional, in-person parent-mediated interventions for their child.

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8. Fox L, Asbury K, Code A, Toseeb U. Parents’ perceptions of the impact of COVID-19 and school transition on autistic children’s friendships. Autism;2022 (Sep 6):13623613221123734.

Research shows that moving schools can be a challenging time for autistic children and young people. One factor that has been found to support successful transition is friendships. However, there is little research exploring how transition between schools affects autistic children’s friendships, and even less on how children’s relationships during transition have been impacted by COVID-19. Fourteen parents of autistic children and young people were interviewed about their child’s move to a new school and the impact they felt this had on their friendships. Parents described how moving with existing friends helped some children to find the transition less challenging. Others had differing experiences, with their children’s friendships playing a much smaller role in the move. Differences were also seen with regard to the impact of COVID-19, with some parents speaking of how hard being away from friends was for their child, while others found the social restrictions a welcome break from interacting with peers. The study highlights how different the experiences of autistic individuals, and their parents, can be and the importance of a child-centred approach to transition support.

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9. Fredskild MU, Engell R, Kessing LV. [Bipolar affective disorder in autism spectrum disorder]. Ugeskr Laeger;2022 (Aug 15);184(33)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a global prevalence of approximately 1%. This review summarises new evidence of association between bipolar disorder (BD) and ASD. The mood episodes of BD can present atypically in people with ASD, potentially leading to misdiagnosis. Anamnesis regarding family history of affective disorders as well as previous mood episode is important among people with ASD to capture the BD diagnosis. Precaution with SSRI-treatment among people with ASD is crucial as the treatment can potentially trigger a mood episode of an underlying BD.

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10. Freeman M, Crawford A, Gough L, Rianto M, Yakubov R, Rampton G, FitzGerald E, Fang H, Di Rezze B. Examining the development and utilization of infection control policies to safely support adults with intellectual and developmental disabilities in congregate living settings during COVID-19. Can J Public Health;2022 (Sep 6):1-12.

OBJECTIVE: Congregate living settings supporting individuals with intellectual and developmental disabilities (IDD) have experienced unprecedented challenges during the COVID-19 pandemic. This study aimed to explore the development and utilization of infection control policies in congregate living settings supporting individuals with IDD during the COVID-19 pandemic. METHODS: This qualitative study employed an interpretive description using semi-structured interviews involving administrative personnel from agencies assisting those with IDD residing in Developmental Services congregate living settings in Ontario, Canada. RESULTS: Twenty-two semi-structured interviews were conducted with individuals from 22 agencies. Thematic analysis revealed three categories: Development of infection control policies, Implementation of infection control policies, and Impact of infection control policies. Each category yielded subsequent themes. Themes from the Development of infection control policies category included New responsibilities and interpreting the grey areas, and Feeling disconnected and forgotten. Four themes within the Implementation of infection control policies category included, « It’s their home » (i.e. difficulty balancing public health guidance and organizational values), Finding equipment and resources (e.g. supports and barriers), Information overload (i.e. challenges agencies faced when implementing policies), and Emerging vaccination (i.e. perspective of agencies as they navigate vaccination for clients and staff). The category of Impact of infection control policies had one theme-Fatigue and burnout, capturing the impact of policies on stakeholders in congregate living settings. CONCLUSION: Agencies experienced difficulties developing and implementing infection control policies, impacting the clients they serve and their families and staff. Public health guidance should be tailored to each congregate living setting rather than generally applied.

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11. Galán-Vidal J, Socuéllamos PG, Baena-Nuevo M, Contreras L, González T, Pérez-Poyato MS, Valenzuela C, González-Lamuño D, Gandarillas A. A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism. Orphanet J Rare Dis;2022 (Sep 6);17(1):345.

BACKGROUND: Novel developmental mutations associated with disease are a continuous challenge in medicine. Clinical consequences caused by these mutations include neuron and cognitive alterations that can lead to epilepsy or autism spectrum disorders. Often, it is difficult to identify the physiological defects and the appropriate treatments. RESULTS: We have isolated and cultured primary cells from the skin of a patient with combined epilepsy and autism syndrome. A mutation in the potassium channel protein Kv10.2 was identified. We have characterised the alteration of the mutant channel and found that it causes loss of function (LOF). Primary cells from the skin displayed a very striking growth defect and increased differentiation. In vitro treatment with various carbonic anhydrase inhibitors with various degrees of specificity for potassium channels, (Brinzolamide, Acetazolamide, Retigabine) restored the activation capacity of the mutated channel. Interestingly, the drugs also recovered in vitro the expansion capacity of the mutated skin cells. Furthermore, treatment with Acetazolamide clearly improved the patient regarding epilepsy and cognitive skills. When the treatment was temporarily halted the syndrome worsened again. CONCLUSIONS: By in vitro studying primary cells from the patient and the activation capacity of the mutated protein, we could first, find a readout for the cellular defects and second, test pharmaceutical treatments that proved to be beneficial. The results show the involvement of a novel LOF mutation of a Potassium channel in autism syndrome with epilepsy and the great potential of in vitro cultures of primary cells in personalised medicine of rare diseases.

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12. Ghirardo S, Sabatini L, Onofri A, Testa MBC, Paglietti MG, Diodato D, Travaglini L, Stregapede F, Ciofi Degli Atti ML, Cherchi C, Cutrera R. Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome. Ital J Pediatr;2022 (Sep 7);48(1):167.

BACKGROUND: Breathing disturbances are often a primary clinical concern especially during wakefulness of the classic form of Rett syndrome, but data for atypical forms are lacking. CASE PRESENTATION: We report the case of a 20-month-old female affected by Rett syndrome with congenital variant-like onset, characterized by severe hypotonia and neurodevelopment impairment. She presented hypoventilation, persistent periodic breathing, and sustained desaturation during sleep, without obstructive or mixed events. Pulse oximetry and capnography during wakefulness were strictly normal. To the best of our knowledge, this is the first case of a patient affected by a congenital variant of Rett syndrome presenting sleep hypercapnia. Hypotonia may play a major role in the genesis of hypoventilation and hypoxemia in our patient. Non-invasive ventilation led to quality-of-life improvements. CONCLUSIONS: Thus, we suggest screening patients with congenital-like Rett syndrome through transcutaneous bedtime carbon dioxide and oxygen monitoring. Moreover, assisted control mode was a breakthrough to achieve adequate ventilation in our case.

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13. Girolamo T, Rice ML. Language Impairment in Autistic Adolescents and Young Adults. J Speech Lang Hear Res;2022 (Sep 12);65(9):3518-3530.

PURPOSE: Little is known about the specific nature of language abilities of autistic adolescents and young adults with language impairment (LI), limiting our knowledge of developmental trajectories and ability to develop efficacious speech/language supports. An important first step is establishing proof of concept of identification of LI in this population, with considerations for feasibility of assessment. This research note describes such a study in a sample of autistic adolescents and young adults with LI. METHOD: Thirteen autistic adolescents and young adults completed an assessment protocol of age-referenced language and nonverbal cognitive assessments. Assessment took place once per year for 3 years; the first two assessments were conducted in person, and the final was conducted online due to the pandemic. All assessments included measures of overall language and morphosyntax; the third added measures of expressive and receptive vocabulary, verbal working memory, and nonverbal intelligence (NVIQ). Analysis included descriptives and comparison of individual performance with epidemiological criteria for LI. RESULTS: All participants qualified for LI, with overall receptive and expressive language scores persistently in the LI range. Other outcomes were variable. Some participants had nonword repetition and vocabulary abilities within age expectations, and some consistently showed adultlike morphosyntactic performance. NVIQ was variable, with no consistent associations with language outcomes. DISCUSSION: Our findings support the use of the current protocol, as implemented in person or online, to identify LI in autistic adolescents and young adults. This exploratory work is limited by a small sample and missing data. The findings contribute to our understanding of linguistic strengths and variability in the language skills of autistic young adults with LI.

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14. Grivas G, Frye RE, Hahn J. Maternal risk factors vary between subpopulations of children with autism spectrum disorder. Autism Res;2022 (Sep 6)

Previous work identified three subgroups of children with ASD based upon co-occurring conditions (COCs) diagnosed during the first 5 years of life. This work examines prenatal risk factors, given by maternal medical claims, for each of the three subgroups: children with a High-Prevalence of COCs, children with mainly developmental delay and seizures (DD/Seizure COCs), and children with a Low-Prevalence of COCs. While some risk factors are shared by all three subgroups, the majority of the factors identified for each subgroup were unique; infections, anti-inflammatory and other complex medications were associated with the High-Prevalence COCs group; immune deregulatory conditions such as asthma and joint disorders were associated with the DD/Seizure COCs group; and overall pregnancy complications were associated with the Low-Prevalence COCs group. Thus, we have found that the previously identified subgroups of children with ASD have distinct associated prenatal risk factors. As such, this work supports subgrouping children with ASD based upon COCs, which may provide a framework for elucidating some of the heterogeneity associated with ASD. LAY SUMMARY: Children diagnosed with autism spectrum disorder (ASD) are commonly diagnosed with co-occurring conditions (COCs) as well. Medical events that occur during a woman’s pregnancy can affect the outcome of ASD but it is unclear how these events affect COCs. Medical events during pregnancy, identified using insurance claims, were found to vary for the three subgroups of children diagnosed with ASD and grouped by COCs. This supports subgrouping children with ASD based upon their COCs.

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15. Guo BQ, Li HB, Zhai DS, Yang LQ. Prevalence of autism spectrum disorder diagnosis by birth weight, gestational age, and size for gestational age: a systematic review, meta-analysis, and meta-regression. Eur Child Adolesc Psychiatry;2022 (Sep 6)

We aimed to comprehensively pool the prevalence of autism spectrum disorder (ASD) diagnosis by birth weight, gestational age, and size for gestational age. PubMed, EMBASE, Web of Science, Ovid PsycINFO, and Cochrane Library were searched up to December 22, 2021. We pooled data using the random-effects model and quantified heterogeneity using the I(2) statistic. Of 66 643 records initially identified, 75 studies were included in the meta-analysis. The pooled prevalence estimates of ASD diagnosis are as follows: very-low-birth weight, 3.1% (912 ASD/66,445 individuals); low-birth weight, 2.3% (5672 ASD/593,927 individuals); normal-birth weight, 0.5% (17,361 ASD/2,378,933 individuals); high-birth weight, 0.6% (4505 ASD/430,699 individuals); very preterm, 2.8% (2113 ASD/128,513 individuals); preterm, 2.1% (19 672 ASD/1 725 244 individuals); term, 0.6% (113,261 ASD/15,297,259 individuals); postterm, 0.6% (9419 ASD/1,138,215 individuals); small-for-gestational-age, 1.9% (6314 ASD/796,550 individuals); appropriate-for-gestational-age, 0.7% (21,026 ASD/5,936,704 individuals); and large-for-gestational-age, 0.6% (2607 ASD/635,666 individuals). Compared with the reference prevalence (those in normal-birth weight, term, and appropriate-for-gestational-age individuals), the prevalence estimates of ASD diagnosis in very-low-birth weight, low-birth weight, very preterm, preterm, and small-for-gestational-age individuals increased significantly, while those in high-birth weight, postterm, and large-for-gestational-age individuals did not change significantly. There were geographical differences in the prevalence estimates. This meta-analysis provided reliable estimates of the prevalence of ASD diagnosis by birth weight, gestational age, and size for gestational age, and suggested that low-birth weight (especially very-low-birth weight), preterm (especially very preterm), and small-for-gestational-age births, rather than high-birth weight, postterm, and large-for-gestational-age births, were associated with increased risk of ASD diagnosis. However, in view of marked between-study heterogeneity in most conditions, unknown effects of certain important confounders associated with ASD due to limited information in original articles, and included studies from a relatively small number of countries, the findings of this study should be interpreted with caution.

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16. Jensen JM, Nielsen US, Bayat A, Rasmussen MB, Møller RS, Bisgaard AM, Hammer TB. [Genetic testing in autism spectrum disorder]. Ugeskr Laeger;2022 (Aug 22);184(34)

Autism spectrum disorders (ASD) have a complex genetic component comprising both frequent polygenic and rare monogenic factors. Research is conducted in methods used to calculate polygenic risk scores, which are not applicable in clinical practice. Advances in genomic technology have identified several monogenic causes, and genetic testing may be offered to persons with ASD where a monogenic etiology is suspected. Herein, we provide an overview of the current knowledge and present the first national recommendation regarding genetic testing in ASD.

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17. Kato Y, Yokokura M, Iwabuchi T, Murayama C, Harada T, Goto T, Tamayama T, Kameno Y, Wakuda T, Kuwabara H, Benner S, Senju A, Tsukada H, Nishizawa S, Ouchi Y, Yamasue H. Lower Availability of Mitochondrial Complex I in Anterior Cingulate Cortex in Autism: A Positron Emission Tomography Study. Am J Psychiatry;2022 (Sep 7):appiajp22010014.

OBJECTIVE: Mitochondrial dysfunction has been implicated in the pathophysiology of autism spectrum disorder (ASD) in previous studies of postmortem brain or peripheral samples. The authors investigated whether and where mitochondrial dysfunction occurs in the living brains of individuals with ASD and to identify the clinical correlates of detected mitochondrial dysfunction. METHODS: This case-control study used positron emission tomography (PET) with 2-tert-butyl-4-chloro-5-{6-[2-(2-[(18)F]fluoroethoxy)-ethoxy]-pyridin-3-ylmethoxy}-2H-pyridazin-3-one ([(18)F]BCPP-EF), a radioligand that binds to the mitochondrial electron transport chain complex I, to examine the topographical distribution of mitochondrial dysfunction in living brains of individuals with ASD. Twenty-three adult males with high-functioning ASD, with no psychiatric comorbidities and free of psychotropic medication, and 24 typically developed males with no psychiatric diagnoses, matched with the ASD group on age, parental socioeconomic background, and IQ, underwent [(18)F]BCPP-EF PET measurements. Individuals with mitochondrial disease were excluded by clinical evaluation and blood tests for abnormalities in lactate and pyruvate levels. RESULTS: Among the brain regions in which mitochondrial dysfunction has been reported in postmortem studies of autistic brains, participants with ASD had significantly decreased [(18)F]BCPP-EF availability specifically in the anterior cingulate cortex compared with typically developed participants. The regional specificity was revealed by a significant interaction between diagnosis and brain regions. Moreover, the lower [(18)F]BCPP-EF availability in the anterior cingulate cortex was significantly correlated with the more severe ASD core symptom of social communication deficits. CONCLUSIONS: This study provides direct evidence to link in vivo brain mitochondrial dysfunction with ASD pathophysiology and its communicational deficits. The findings support the possibility that mitochondrial electron transport chain complex I is a novel therapeutic target for ASD core symptoms.

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18. Kim SY, Gillespie-Lynch K. Do Autistic People’s Support Needs and Non-Autistic People’s Support for the Neurodiversity Movement Contribute to Heightened Autism Stigma in South Korea vs. the US?. J Autism Dev Disord;2022 (Sep 7):1-15.

We examined stigma towards vignette characters representing diverse autistic characteristics (social, non-speaking, or repetitive interests or restricted behaviors; RIRB) among 259 South Korean and 240 American participants (age range = 18 ~ 74). Within each domain, participants were randomized to read a vignette depicting low or high support needs. Koreans reported greater stigma towards autistic characteristics and less awareness of and support for the neurodiversity movement than Americans. Autistic characters’ support needs and rater characteristics (autism knowledge, neurodiversity endorsement, and contact quantity) predicted stigma in at least one domain, and after accounting for these variables, participants’ nationality was suggestively associated only with stigma towards social characteristics and RIRB. Findings highlight the need for culturally adapted-training that provides contact with diverse autistic people.

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19. Konrad J, Marrus N, Lang CE. A Feasibility Study of Bilateral Wrist Sensors for Measuring Motor Traits in Children With Autism. Percept Mot Skills;2022 (Sep 6):315125221125275.

Direct, quantitative measures of hyperactivity and motor coordination, two motor characteristics associated with impairment in autism, are limited. Wearable sensors can objectively index real-world movement variables that may relate to these behaviors. Here, we explored the feasibility of bilateral wrist accelerometers for measuring upper limb activity in 3-10-year-olds with autism (n = 22; 19 boys, 3 girls; M age = 5.64, SD = 2.73 years) and without autism (n = 26; 15 boys, 11 girls; M age = 6.26, SD = 2.47 years). We investigated the relationships between movement characteristics related to duration, intensity, complexity, and symmetry on the one hand and parent-reported hyperactivity and motor coordination on the other. Participants with and without autism wore the sensors for 12-hour periods. Sensor variables varied by age but not sex, with movement intensity and complexity moderately related to motor coordination. These findings lend preliminary support to wearable sensors as a means of providing ecologically-valid metrics of motor characteristics that impact adaptive function in children with autism.

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20. Krepischi ACV, Villela D, da Costa SS, Mazzonetto PC, Schauren J, Migliavacca MP, Milanezi F, Santos JG, Guida G, Guarischi-Sousa R, Campana G, Kok F, Schlesinger D, Kitajima JP, Campagnari F, Bertola DR, Vianna-Morgante AM, Pearson PL, Rosenberg C. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil. Sci Rep;2022 (Sep 7);12(1):15184.

Chromosomal microarray analysis (CMA) has been recommended and practiced routinely since 2010 both in the USA and Europe as the first-tier cytogenetic test for patients with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. However, in Brazil, the use of CMA is still limited, due to its high cost and complexity in integrating the results from both the private and public health systems. Although Brazil has one of the world’s largest single-payer public healthcare systems, nearly all patients referred for CMA come from the private sector, resulting in only a small number of CMA studies in Brazilian cohorts. To date, this study is by far the largest Brazilian cohort (n = 5788) studied by CMA and is derived from a joint collaboration formed by the University of São Paulo and three private genetic diagnostic centers to investigate the genetic bases of neurodevelopmental disorders and congenital abnormalities. We identified 2,279 clinically relevant CNVs in 1886 patients, not including the 26 cases of UPD found. Among detected CNVs, the corresponding frequency of each category was 55.6% Pathogenic, 4.4% Likely Pathogenic and 40% VUS. The diagnostic yield, by taking into account Pathogenic, Likely Pathogenic and UPDs, was 19.7%. Since the rational for the classification is mostly based on Mendelian or highly penetrant variants, it was not surprising that a second event was detected in 26% of those cases of predisposition syndromes. Although it is common practice to investigate the inheritance of VUS in most laboratories around the world to determine the inheritance of the variant, our results indicate an extremely low cost-benefit of this approach, and strongly suggest that in cases of a limited budget, investigation of the parents of VUS carriers using CMA should not be prioritized.

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21. Lee T, Lee H, Kim S, Park KJ, An JY, Kim HW. Brief Report: Risk Variants Could Inform Early Neurodevelopmental Outcome in Children with Developmental Disabilities. J Autism Dev Disord;2022 (Sep 7)

The aim of this study was to examine genetic variations underlying the early neurodevelopmental outcome of developmental disabilities (DDs). The study cohort consisted of 191 children with DDs. Diagnosis was assessed at baseline and at the index age (72-84 months). Exome sequencing was conducted and putative risk variants were identified. According to the diagnostic improvement, children were categorized into the improvement group (n = 19) and the non-improvement group (n = 172). Compared to the non-improvement group, the improvement group had lower number of risk variants in known DD genes and haploinsufficient genes, and lower number of overall putative risk variants. Our results may serve as a preliminary basis for developing a model that informs clinical outcome by sequencing analysis.

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22. Maes P, Weyland M, Kissine M. Describing (pre)linguistic oral productions in 3- to 5-year-old autistic children: A cluster analysis. Autism;2022 (Sep 7):13623613221122663.

For most autistic children, spoken language emergence and development happen after the age of 3. Once they start developing and using spoken language, some eventually manage to reach typical levels of language abilities, while others remain minimally speaking into adulthood. It is therefore difficult to consider young autistic preschoolers as a homogeneous group in terms of spoken language levels. In our study, we breakdown a representative and inclusive group of children on the spectrum aged from 3 to 5 into five subgroups that correspond to different linguistic profiles. To do so, we qualitatively described children’s (pre)verbal productions elicited during interactions with a parent and with an experimenter. We then used a type of statistical analysis called cluster analysis to group together the children that had a similar expressive (pre)linguistic behavior. Using this analysis, we were able to delineate five linguistic profiles with qualitatively different patterns of vocal production. Two of these profiles are composed of speaking children; the three others are composed of non- or minimally speaking children. Our findings show that traditional binary division of speaking versus nonspeaking autistic children is not precise enough to describe the heterogeneity of early spoken language in young autistic children. They also support the use of qualitative descriptions of vocal productions and speech to accurately document children’s level of language, which could, in turn, help design very finely tailored language intervention specific to each child.

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23. Marchezan J, Deckmann I, da Fonseca GC, Margis R, Riesgo R, Gottfried C. Resveratrol Treatment of Autism Spectrum Disorder-A Pilot Study. Clin Neuropharmacol;2022 (Sep 7)

OBJECTIVES: Considering autism spectrum disorder (ASD) as a neurodevelopmental condition associated with immune system impairments, we aimed to evaluate the potential benefits, efficacy, tolerability, and safety of the anti-inflammatory, antioxidant, and neuroprotective trans-resveratrol (RSV) in behavioral impairments and in a set of 8 microRNAs (miR) related to the immune system in pediatric subjects with ASD. METHODS: This is an open-label pilot trial over a 3 months (90 days) study follow-up period designed to assess the effect of 200 mg/d RSV on 5 boys aged 10 to 13 (11.8 ± 1.1) years diagnosed with ASD according to Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. RESULTS: The RSV treatment significantly reduced the Aberrant Behavior Checklist total score (P = 0.042) and Irritability (P = 0.041), with no alteration in Stereotypical Behavior (P = 0.066), Hyperactivity (P = 0.068), and Lethargy/Social Withdrawal (P = 0.078) subscales. On the Clinical Global Impression scale, 3 individuals showed marked improvement in behavior; one showed mild improvement, and the other had no changes. The RSV treatment increased the miR-195-5p (P = 0.043), an important modulator of targets related to inflammatory and immunological pathways. RSV administration did not present adverse effects and did not alter clinical laboratory results. CONCLUSIONS: RSV is a safe molecule for administrating in the pediatric population, able to modulate behavior alterations and molecules associated with the immune system, becoming a promising therapeutic strategy for large-scale studies in ASD, to investigate both behavioral and molecular approaches.

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24. Montazeri F, Buitelaar JK, Oosterling IJ, de Bildt A, Anderson GM. Network Structure of Autism Spectrum Disorder Behaviors and Its Evolution in Preschool Children: Insights from a New Longitudinal Network Analysis Method. J Autism Dev Disord;2022 (Sep 6)

Network modeling of the social, communication and restrictive/repetitive behaviors (RRBs) included in the definition of Autism Spectrum Disorder was performed. The Autism Diagnostic Interview-Revised (ADI-R) assessed behaviors in 139 pre-school cases at two cross-sections that averaged 34.8 months apart. Cross-sectional networks were based on the correlation matrix of the ADI-R behavioral items and the « bootCross » method was developed and enabled the estimation of a longitudinal network. At both stages, RRB items/nodes formed a consistent peripheral cluster, while social and communication nodes formed a core cluster that diverged with time. These differences in the nature and evolution of the RRB and socio-communicative dimensions indicate that their inter-behavior dynamics are very different. The most central behaviors across stages are proposed as prime targets for efficient therapeutic intervention.

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25. Munagala N, Saravanan V, Almukhtar FH, Jhamat N, Kafi N, Khan S. Supervised Approach to Identify Autism Spectrum Neurological Disorder via Label Distribution Learning. Comput Intell Neurosci;2022;2022:4464603.

Autism Spectrum Disorder (ASD) is a complicated collection of neurodevelopmental illnesses characterized by a variety of developmental defects. It is a binary classification system that cannot cope with reality. Furthermore, ASD, data label noise, high dimension, and data distribution imbalance have all hampered the existing classification algorithms. As a result, a new ASD was proposed. This strategy employs label distribution learning (LDL) to deal with label noise and uses support vector regression (SVR) to deal with sample imbalance. The experimental results show that the proposed method balances the effects of majority and minority classes on outcomes. It can effectively deal with imbalanced data in ASD diagnosis, and it can help with ASD diagnosis. This study presents a cost-sensitive approach to correct sample imbalance and uses a support vector regression (SVR)-based method to remove label noise. The label distribution learning approach overcomes high-dimensional feature classification issues by mapping samples to the feature space and then diagnosing multiclass ASD. This technique outperforms previous methods in terms of classification performance and accuracy, as well as resolving the issue of unbalanced data in ASD diagnosis.

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26. Munsell EGS, Coster WJ. How have Participation Outcomes of Autistic Young Adults been Measured? A Scoping Review. J Autism Dev Disord;2022 (Sep 7)

Autistic young adults experience challenges participating in the workforce, post-secondary schooling, and living in the community. We examined how participation outcomes have been measured in autistic young adults. Articles (n = 113) were identified through database searches and citation tracking. Guided by current models in the literature, data were extracted for each measure of participation. Results include a description of the studies in the review, the extent to which participation across life situations has been addressed, and a critical analysis of the measures used to describe participation. While there is some breadth in the investigation of participation across diverse life situations, there is limited depth in what the measures capture and many measures used lack psychometric support.

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27. Pope L, Light J, Franklin A. Black Children With Developmental Disabilities Receive Less Augmentative and Alternative Communication Intervention Than Their White Peers: Preliminary Evidence of Racial Disparities From a Secondary Data Analysis. Am J Speech Lang Pathol;2022 (Sep 7);31(5):2159-2174.

PURPOSE: Ensuring equitable access to augmentative and alternative communication (AAC) intervention services for children with complex communication needs (CCN) is crucial. Evidence suggests that racial disparities exist in access to communication interventions, disadvantaging Black children. However, no research has investigated specifically the evidence for racial disparities in AAC services for children with developmental disabilities and CCN. METHOD: The current study applied post hoc data analysis methods within a preexisting, open-access data set to explore preliminary evidence of racial disparities in AAC intervention. Amount of AAC intervention was compared for Black versus white (1) preschool students at study initiation (M (age) = 3;8 [years;months]) and 2 years later at study completion (M (age) = 5;10). RESULTS: Black preschool students were reported to receive significantly less AAC intervention per week as compared to their white peers, both at study initiation and 2 years later. By study end, 75% of the Black children were receiving less than 60 min of AAC intervention per week, an inadequate amount to achieve meaningful gains given their significant disabilities. CONCLUSIONS: It is unclear what mechanisms may contribute to the observed disparities; however, it is critical that concrete steps are taken by individual speech-language pathologists, school districts, preservice preparation programs, and researchers to identify inequities in AAC services and take actions to rectify them. Future research is essential to investigate the potential factors contributing to inequalities and determine effective interventions to address them.

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28. Vivanti G. What does it mean for an autism intervention to be evidence-based?. Autism Res;2022 (Sep 6)

Although there is consensus in the field that individuals on the autism spectrum should receive interventions that are evidence-based, the concept of « evidence-based » is multifaceted and subject to ongoing development and debate. In this commentary, we review historical developments, methodological approaches, as well as areas of controversies and research directions in the establishment of an evidence base for autism intervention. LAY SUMMARY: What does it mean for an autism intervention to be evidence-based? In this commentary, we address this complex issue by examining historical developments, methodological approaches, as well as areas of ongoing debate in the establishment of evidence-based interventions for autism.

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29. Weiland RF, Polderman TJ, Smit DJ, Begeer S, Van der Burg E. No differences between adults with and without autism in audiovisual synchrony perception. Autism;2022 (Sep 7):13623613221121414.

It has been known for a long time that individuals diagnosed with autism spectrum disorder perceive the world differently. In this study, we investigated how people with or without autism perceive visual and auditory information. We know that an auditory and a visual stimulus do not have to be perfectly synchronous for us to perceive them as synchronous: first, when the two are within a certain time window (temporal binding window), the brain will tell us that they are synchronous. Second, the brain can also adapt quickly to audiovisual asynchronies (rapid recalibration). Although previous studies have shown that people with autism spectrum disorder have different temporal binding windows, and less rapid recalibration, we did not find these differences in our study. However, we did find that both processes develop over age, and since previous studies tested only young people (children, adolescents, and young adults), and we tested adults from 18 to 55 years, this might explain the different findings. In the end, there might be quite a complex story, where people with and without autism spectrum disorder perceive the world differently, even dependent on how old they are.

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30. Zemestani M, Hoseinpanahi O, Salehinejad MA, Nitsche MA. The impact of prefrontal transcranial direct current stimulation (tDCS) on theory of mind, emotion regulation and emotional-behavioral functions in children with autism disorder: A randomized, sham-controlled, and parallel-group study. Autism Res;2022 (Sep 7)

Advances in our knowledge about the neuropsychological mechanisms underlying core deficits in autism spectrum disorder (ASD) have produced several novel treatment modalities. One of these approaches is modulation of activity of the brain regions involved in ASD symptoms. This study examined the effects of transcranial direct current stimulation (tDCS) over the dorsolateral prefrontal cortex (DLPFC) on autism symptom severity, theory of mind, emotion regulation strategies, and emotional-behavioral functions in children with ASD. Thirty-two children (M(age) = 10.16, SD = 1.93, range 7-12 years) diagnosed with ASD were randomly assigned to active (N = 17) or sham stimulation (N = 15) groups in a randomized, sham-controlled, parallel-group design. Participants underwent 10 sessions of active (1.5 mA, 15 min, bilateral left anodal/right cathodal DLPFC, 2 sessions per week) or sham tDCS. Autism symptom severity, theory of mind, emotion regulation strategies, and emotional-behavioral functioning of the patients were assessed at baseline, immediately after the intervention, and 1 month after the intervention. A significant improvement of autism symptom severity (i.e., communication), theory of mind (i.e., ToM 3), and emotion regulation strategies was observed for the active as compared to the sham stimulation group at the end of the intervention, and these effects were maintained at the one-month follow-up. The results suggest that repeated tDCS with anodal stimulation of left and cathodal stimulation of right DLPFC improves autism symptom severity as well as social cognition and emotion regulation in ASD.

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