1. Adamou M, Jones SL, Wetherhill S. Predicting diagnostic outcome in adult autism spectrum disorder using the autism diagnostic observation schedule, second edition. BMC Psychiatry ;2021 (Jan 10) ;21(1):24.

BACKGROUND : The Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) module four assessment for diagnosing autism spectrum disorder in adults has shown good sensitivity and specificity in research settings. METHOD : This study aimed to evaluate the predictive accuracy of the ADOS-2 module four by investigating the components of the assessment, in relation to diagnostic outcome in a clinical setting. Data from 88 service users referred to a Specialist Adult Autism Service was explored. RESULTS : ADOS-2 scores failed to predict the diagnostic outcome (overall sensitivity = 92%, specificity = 57%). Interestingly, scores from the ‘restricted interests’ component of the ADOS-2 have the potential to predict diagnostic outcome, despite this domain not been included in the scoring algorithm. CONCLUSIONS : Based on our findings, we recommend clinicians are cautious when interpreting results of the ADOS-2 assessment.

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2. Alonso-Gonzalez A, Calaza M, Amigo J, González-Peñas J, Martínez-Regueiro R, Fernández-Prieto M, Parellada M, Arango C, Rodriguez-Fontenla C, Carracedo A. Exploring the biological role of postzygotic and germinal de novo mutations in ASD. Sci Rep ;2021 (Jan 11) ;11(1):319.

De novo mutations (DNMs), including germinal and postzygotic mutations (PZMs), are a strong source of causality for Autism Spectrum Disorder (ASD). However, the biological processes involved behind them remain unexplored. Our aim was to detect DNMs (germinal and PZMs) in a Spanish ASD cohort (360 trios) and to explore their role across different biological hierarchies (gene, biological pathway, cell and brain areas) using bioinformatic approaches. For the majority of the analysis, a combined ASD cohort (N = 2171 trios) was created using previously published data by the Autism Sequencing Consortium (ASC). New plausible candidate genes for ASD such as FMR1 and NFIA were found. In addition, genes harboring PZMs were significantly enriched for miR-137 targets in comparison with germinal DNMs that were enriched in GO terms related to synaptic transmission. The expression pattern of genes with PZMs was restricted to early mid-fetal cortex. In contrast, the analysis of genes with germinal DNMs revealed a spatio-temporal window from early to mid-fetal development stages, with expression in the amygdala, cerebellum, cortex and striatum. These results provide evidence of the pathogenic role of PZMs and suggest the existence of distinct mechanisms between PZMs and germinal DNMs that are influencing ASD risk.

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3. Behzadpoor S, Pouretemad H. Some comments on cognitive behavioral therapy for anxiety in children with autism. Asian J Psychiatr ;2021 (Jan 11) ;56:102553.

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4. Choueiri R, Lindenbaum A, Ravi M, Robsky W, Flahive J, Garrison W. Improving Early Identification and Access to Diagnosis of Autism Spectrum Disorder in Toddlers in a Culturally Diverse Community with the Rapid Interactive screening Test for Autism in Toddlers. J Autism Dev Disord ;2021 (Jan 9)

The objective of this study was to test a screening model that employs the Rapid Interactive Screening Test for Autism in Toddlers (RITA-T), in an underserved community to improve ASD detection. We collaborated with a large Early Intervention (EI) program and trained 4 providers reliably on the RITA-T. Toddlers received the Modified Checklist for Autism in Toddlers (MCHAT-R/F), the RITA-T, developmental and autism testing, and a best-estimate clinical diagnosis. Eighty-One toddlers were enrolled : 57 with ASD and 24 with Developmental Delay (DD) non-ASD. Wait-time for diagnosis was on average 6 weeks. The RITA-T correlated highly with autism measures and EI staff integrated this model easily. The RITA-T significantly improved the identification and wait time for ASD in this underserved community.

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5. Conti E, Chericoni N, Costanzo V, Lasala R, Mancini A, Prosperi M, Tancredi R, Muratori F, Calderoni S, Apicella F. Moving Toward Telehealth Surveillance Services for Toddlers at Risk for Autism During the COVID-19 Pandemic. Front Psychiatry ;2020 ;11:565999.

Since 2016, the project « Early Bird Diagnostic Protocol for Autism Spectrum Disorders (ASD) » funded by the Italian Ministry of Health has been operative at IRCCS Fondazione Stella Maris (FSM), Pisa (IT), with the main aim of developing early age-specific diagnostic protocols by longitudinally enrolling two different populations at risk for ASD : (i) toddlers with older siblings with ASD (FR) and (ii) toddlers referred by a child psychiatrist or pediatrician for suspected ASD (CR). On January 30, 2020, when the World Health Organization declared the outbreak of coronavirus disease 2019 (COVID-19), 136 patients (85 FR ; 51 CR ; 93 males ; 43 females) had been enrolled in the project with 324 completed time points and 64 still missing. Considering both the huge psychological burden on families with toddlers at risk for ASD during the lockdown and the longitudinal studies reporting the positive « surveillance effect » in terms of a better outcome in at-risk toddlers, our priority has been to maintain regular contact and support to enrolled families. To do this, the research team, being authorized for smart-working research activities, has set up a detailed remote surveillance protocol (RSP). The RSP includes three online interviews and one online video registration of parent-child play. In the current community case study, the authors report the telehealth procedure and discuss possible future directions in developing remote assessment and new evaluation modalities for ecological parent-child play video recordings in at-risk populations. Hopefully, the surveillance protocol will further improve our ability to detect risk and activate early tailored intervention.

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6. Crutel V, Lambert E, Penelaud PF, Albarrán Severo C, Fuentes J, Rosier A, Hervás A, Marret S, Oliveira G, Parellada M, Kyaga S, Gouttefangeas S, Bertrand M, Ravel D, Falissard B. Correction to : Bumetanide Oral Liquid Formulation for the Treatment of Children and Adolescents with Autism Spectrum Disorder : Design of Two Phase III Studies (SIGN Trials). J Autism Dev Disord ;2021 (Jan 9)

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7. Eleftheriadou M, Medici-van den Herik E, Stuurman K, van Bever Y, Hellebrekers D, van Slegtenhorst M, Ruijter G, Barakat TS. Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing : A case report. Mol Genet Genomic Med ;2021 (Jan 11):e1595.

BACKGROUND : Isobutyryl-CoA dehydrogenase (IBD) is a mitochondrial enzyme catalysing the third step in the degradation of the essential branched-chain amino acid valine and is encoded by ACAD8. ACAD8 mutations lead to isobutyryl-CoA dehydrogenase deficiency (IBDD), which is identified by increased C4-acylcarnitine levels. Affected individuals are either asymptomatic or display a variety of symptoms during infancy, including speech delay, cognitive impairment, failure to thrive, hypotonia, and emesis. METHODS : Here, we review all previously published IBDD patients and describe a girl diagnosed with IBDD who was presenting with autism as the main disease feature. RESULTS : To assess whether a phenotype-genotype correlation exists that could explain the development or absence of clinical symptoms in IBDD, we compared CADD scores, in silico mutation predictions, LoF tolerance scores and C4-acylcarnitine levels between symptomatic and asymptomatic individuals. Statistical analysis of these parameters did not establish significant differences amongst both groups. CONCLUSION : As in our proband, trio whole exome sequencing did not establish an alternative secondary genetic diagnosis for autism, and reported long-term follow-up of IBDD patients is limited, it is possible that autism spectrum disorders could be one of the disease-associated features. Further long-term follow-up is suggested in order to delineate the full clinical spectrum associated with IBDD.

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8. Feinberg E, Augustyn M, Broder-Fingert S, Bennett A, Weitzman C, Kuhn J, Hickey E, Chu A, Levinson J, Sandler Eilenberg J, Silverstein M, Cabral HJ, Patts G, Diaz-Linhart Y, Rosenberg J, Miller JS, Guevara JP, Fenick AM, Blum NJ. Effect of Family Navigation on Diagnostic Ascertainment Among Children at Risk for Autism : A Randomized Clinical Trial From DBPNet. JAMA Pediatr ;2021 (Jan 11)

IMPORTANCE : Early identification of autism spectrum disorder (ASD) is associated with improved cognitive and behavioral outcomes. Targeted strategies are needed to support equitable access to diagnostic services to ensure that children from low-income and racial/ethnic minority families receive the benefits of early ASD identification and treatment. OBJECTIVE : To test the efficacy of family navigation (FN), an individually tailored, culturally informed care management strategy, to increase the likelihood of achieving diagnostic ascertainment among young children at risk for ASD. DESIGN, SETTING, AND PARTICIPANTS : This randomized clinical trial of 249 families of children aged 15 to 27 months who had positive screening results for possible ASD was conducted in 11 urban primary care sites in 3 cities. Data collection occurred from February 24, 2015, through November 5, 2018. Statistical analysis was performed on an intent-to-treat basis from November 5, 2018, to July 27, 2020. INTERVENTIONS : Families were randomized to FN or conventional care management (CCM). Families receiving FN were assigned a navigator who conducted community-based outreach to families to address structural barriers to care and support engagement in recommended services. Families receiving CCM were assigned to a care manager, who did limited telephone outreach. Families received FN or CCM after positive initial screening results and for 100 days after diagnostic ascertainment. MAIN OUTCOMES AND MEASURES : The primary outcome, diagnostic ascertainment, was measured as the number of days from randomization to completion of the child’s clinical developmental evaluation, when a diagnosis of ASD or other developmental disorder was determined. RESULTS : Among 250 families randomized, 249 were included in the primary analysis (174 boys [69.9%] ; mean [SD] age, 22.0 [3.5] months ; 205 [82.3%] publicly insured ; 233 [93.6%] non-White). Children who received FN had a greater likelihood of reaching diagnostic ascertainment over the course of 1 year (FN, 108 of 126 [85.7%] ; CCM, 94 of 123 [76.4%] ; unadjusted hazard ratio [HR], 1.39 [95% CI, 1.05-1.84]). Site (Boston, New Haven, and Philadelphia) and ethnicity (Hispanic vs non-Hispanic) moderated the effect of FN (treatment × site interaction ; P = .03 ; Boston : HR, 2.07 [95% CI, 1.31-3.26] ; New Haven : HR, 1.91 [95% CI, 0.94-3.89] ; and Philadelphia : HR, 0.91 [95% CI, 0.60-1.37]) (treatment × ethnicity interaction ; P < .001 ; Hispanic families : HR, 2.81 [95% CI, 2.23-3.54] vs non-Hispanic families : HR, 1.49 [95% CI, 1.45-1.53]). The magnitude of FN's effect was significantly greater among Hispanic families than among non-Hispanic families (diagnostic ascertainment among Hispanic families : FN, 90.9% [30 of 33], and CCM, 53.3% [16 of 30] ; vs non-Hispanic families : FN, 89.7% [35 of 39], and CCM, 77.5% [31 of 40]). CONCLUSIONS AND RELEVANCE : Family navigation improved the likelihood of diagnostic ascertainment among children from racial/ethnic minority, low-income families who were detected as at risk for ASD in primary care. Results suggest differential effects of FN by site and ethnicity. TRIAL REGISTRATION : ClinicalTrials.gov Identifier : NCT02359084.

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9. Hermaszewska S, Sin J. End-user perspectives on the development of an online intervention for parents of children on the autism spectrum. Autism ;2021 (Jan 11):1362361320984895.

Parent caregivers play an essential role in the lives of individuals on the autism spectrum. The demands of caregiving can have negative effects on the mental and physical wellbeing of parents. Different types of formal support have been developed to help parents to cope with caregiving ; however, many parents struggle to access services due to limited availability and busy schedules. The Internet could offer parents more accessible and flexible support. We asked 17 parents what content they would like to include in an online resource. Parents told us about their experiences trying to access and use existing formal support and websites. They overwhelmingly supported the development of an online resource informed by their suggestions. Parents emphasised the need for easier access to information through educational components and direct access to healthcare professionals online. Parents also wanted help with finding existing services and reliable, locally relevant information. Parents stressed the need for a safe environment to meet and chat with other parents online. This research forms the first stage in the development process of an online health resource for parents.

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10. Ivanov I, Pacheva I, Timova E, Iordanova R, Galabova F, Gaberova K, Petkova A, Kotetarov V, Panova M, Tonchev N, Franz L. The Route to Autism Spectrum Diagnosis in Pediatric Practice in Bulgaria. Diagnostics (Basel) ;2021 (Jan 11) ;11(1)

Diagnosis of autism spectrum disorder (ASD) before the age of three years is a challenge. Analyzing the present practice may help reaching that goal. AIM : To investigate developmental abnormalities and diagnostic pathway of ASD patients in pediatric practice. METHODS : Retrospective cross-sectional study of 192 children aged 13 months to 17 years 11 months (average 4 years 9 months), investigated in an outpatient and hospital setting from January 2015 to June 2018 by a semi-structured history and clinical examination, and diagnosed with ASD by Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) criteria. RESULTS : Behavioral peculiarities were detected in the history of the first two years of life in 74.8% of the subjects. The first developmental abnormalities were noticed by the parents at ages from 8 to 36 months (mean 15.6 months) and were predominantly in speech (in 94.6%) and non-verbal communication (11.3%). Developmental regression was reported in 42.1% of the patients occurring between the ages of 6 and 50 months (mean 17.9 months), affecting most commonly speech (88.4% of cases), non-verbal communication (29.2%), and behavior (12.8%). By history, the first manifestations of ASD were noticed at ages from 8 months to 84 months (mean 18.5 months), and were disorders of expressive speech (in 66.7% of cases), receptive speech (in 45.8%), non-verbal communication (35.4%), behavior (27.6%), play (8.9%), socialization (5.7%), and joint attention (2.1%). The most common motive for specialized consultation was delay in language development-in 84.6% of children. The age of ASD diagnosis varied between 12 and 132 months (mean 39.7 months), and the time period between first ASD manifestations and diagnosis was in the range of 0 to 79 months (mean 23.3 months). Many symptoms of abnormal social communication, unnoticed by parents, were detected objectively in more than 95% of the cases-absent or rare spontaneous or reciprocal smile ; lack of sharing of interest or affect ; abnormal eye contact ; lack of finger pointing ; lack of gaze to a pointed object ; poor facial expressions ; lack of imaginary play, etc. Conclusions : Almost two years are needed for diagnosing abnormal development in other domains besides speech in ASD patients. Diagnosis before the age of three years can be achieved by focusing parents’ and pediatricians’ attention on social communication and behavior in patients with speech delay or developmental regression.

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11. Jhun M, Panwar A, Cordner R, Irvin DK, Veiga L, Yeager N, Pechnick RN, Schubloom H, Black KL, Wheeler CJ. CD103 Deficiency Promotes Autism (ASD) and Attention-Deficit Hyperactivity Disorder (ADHD) Behavioral Spectra and Reduces Age-Related Cognitive Decline. Front Neurol ;2020 ;11:557269.

The incidence of autism spectrum disorders (ASD) and attention deficit hyperactivity disorder (ADHD), which frequently co-occur, are both rising. The causes of ASD and ADHD remain elusive, even as both appear to involve perturbation of the gut-brain-immune axis. CD103 is an integrin and E-cadherin receptor most prominently expressed on CD8 T cells that reside in gut, brain, and other tissues. CD103 deficiency is well-known to impair gut immunity and resident T cell function, but it’s impact on neurodevelopmental disorders has not been examined. We show here that CD8 T cells influence neural progenitor cell function, and that CD103 modulates this impact both directly and potentially by controlling CD8 levels in brain. CD103 knockout (CD103KO) mice exhibited a variety of behavioral abnormalities, including superior cognitive performance coupled with repetitive behavior, aversion to novelty and social impairment in females, with hyperactivity with delayed learning in males. Brain protein markers in female and male CD103KOs coincided with known aspects of ASD and ADHD in humans, respectively. Surprisingly, CD103 deficiency also decreased age-related cognitive decline in both sexes, albeit by distinct means. Together, our findings reveal a novel role for CD103 in brain developmental function, and identify it as a unique factor linking ASD and ADHD etiology. Our data also introduce a new animal model of combined ASD and ADHD with associated cognitive benefits, and reveal potential therapeutic targets for these disorders and age-related cognitive decline.

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12. Medda JE, Kitzerow J, Schlitt S, Berndt K, Schwenck C, Uhlmann L, Freitag CM. Pre-Post Effects of the Psychoeducational, Autism-Specific Parent Training FAUT-E. Z Kinder Jugendpsychiatr Psychother ;2021 (Jan 11):1-10.

Objective : Psychoeducational parent training is an economic way to provide care for parents of children newly diagnosed with an autism spectrum disorder (ASD). This study explores pre-post effect sizes of the manualized autism-specific parent training FAUT-E (Frankfurter Autismus-Elterntraining). Method : Two behaviorally trained therapists worked with 6-10 parents in eight group sessions. Twenty-four parents of 24 children with ASD participated in the study. Outcomes were child- and parent-related measures obtained at T0 (first measurement), T1 (second measurement), T2 (postintervention), and T3 (3 months after intervention). Results : Children showed improved behavior in the parent-rated Aberrant Behavior Checklist (ABC) total score after therapy (p = .001 ; ES T1T2 = .73) and at T3 (p = .018 ; ES T1-T3 = -.51), and a lower intensity of parent-rated problem behavior at T3 (p = .031 ; ES T1-T3 = -.46). Parental measures did not change. Conclusions : This study found medium pre-post effects on the child’s behavior by FAUT-E between T1 and T2/T3 ; these were not observed between the measurements T0-T1. FAUT-E was easy to implement and did not increase parental stress. This is in line with results of studies on other training programs to teach parents to use effective behavioral strategies with ASD.

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13. Mitchell RA, Barton SM, Harvey AS, Ure AM, Williams K. Factors associated with autism spectrum disorder in children with tuberous sclerosis complex : a systematic review and meta-analysis. Dev Med Child Neurol ;2021 (Jan 11)

AIM : To investigate associations between clinical factors and the development of autism spectrum disorder (ASD) in children with tuberous sclerosis complex (TSC), specifically seizures, electroencephalogram abnormalities, tubers and other neurostructural abnormalities, and genetic factors. METHOD : MEDLINE, Embase, PubMed, the Cochrane Library, and Web of Science were searched until January 2019. Studies that considered the predefined factors for development of ASD in children with TSC were included, following PRISMA-P guidelines. Two authors independently reviewed titles, abstracts, and full texts, extracted data, and assessed risk of bias. RESULTS : Forty-two studies with 3542 children with TSC were included. ASD was associated with a history of seizures (odds ratio [OR] 3.79, 95% confidence interval [CI] 1.77-8.14), infantile spasms compared with other seizure types (OR 3.04, 95% CI 2.17-4.27), onset of any seizure type during infancy (OR 2.65, 95% CI 1.08-6.54), and male sex (OR 1.62, 95% CI 1.23-2.14). There was no association with tuber number, tuber location, or genotype. INTERPRETATION : While a causal link between seizures and ASD in children with TSC cannot be inferred, a strong association between seizures and ASD in children with TSC, particularly with seizure onset during infancy and specifically infantile spasms, is present. Children with TSC and infant-onset seizures should be monitored for emerging features of ASD.

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14. Muscatello RA, Vandekar SN, Corbett BA. Evidence for decreased parasympathetic response to a novel peer interaction in older children with autism spectrum disorder : a case-control study. J Neurodev Disord ;2021 (Jan 9) ;13(1):6.

BACKGROUND : Individuals with autism spectrum disorder (ASD) often experience elevated stress during social interactions and may have difficulty forming and maintaining peer relationships. The autonomic nervous system (ANS) directs physiological changes in the body in response to a number of environmental stimuli, including social encounters. Evidence suggests the flexibility of the ANS response is an important driving factor in shaping social behavior. For youth with ASD, increased stress response and/or atypical ANS regulation to benign social encounters may therefore influence social behaviors, and, along with developmental and experiential factors, shape psychological outcomes. METHODS : The current study measured ANS response to a peer-based social interaction paradigm in 50 typically developing (TD) children and 50 children with ASD (ages 10-13). Respiratory sinus arrhythmia (RSA), a cardiac measure of parasympathetic influence on the heart, and pre-ejection period (PEP), a sympathetic indicator, were collected. Participants engaged in a friendly, face-to-face conversation with a novel, same-aged peer, and physiological data were collected continuously before and during the interaction. Participants also reported on state anxiety following the interaction, while parents reported on the child’s social functioning and number of social difficulties. RESULTS : Linear mixed models revealed that, while there were no diagnostic effects for RSA or PEP, older youth with ASD appeared to demonstrate a blunted parasympathetic (RSA) response. Further, increased severity of parent-reported social symptoms was associated with lower RSA. Youth with ASD reported more anxiety following the interaction ; however, symptoms were not related to RSA or PEP response based on linear mixed modeling. CONCLUSIONS : Physiological regulation, age, and social functioning likely influence stress responses to peer interactions for youth with ASD. Parasympathetic functioning, as opposed to sympathetic arousal, may be especially important in behavioral regulation, as older youth with ASD demonstrated atypical regulation and response to the social interaction paradigm. Future studies should help to further elucidate the developmental factors contributing to stress responses in ASD, the impact of physiological response on observable social behavior, and potential long-term consequences of chronic social stress in youth with ASD.

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15. O’Brien AM, Schlosser RW, Shane H, Wendt O, Yu C, Allen AA, Cullen J, Benz A, O’Neill L. Providing visual directives via a smart watch to a student with Autism Spectrum Disorder : an intervention note. Augment Altern Commun ;2020 (Dec) ;36(4):249-257.

Smart watches are discreet and wearable tools that may be repurposed to improve directive-following for individuals with autism spectrum disorder (ASD). Specifically, a mentor can transmit just-in-time (JIT) visual supports (e.g., video clips, photographs, text) that depict an upcoming directive to a learner’s smart watch to prompt the learner as needed from a distance. Using a single-case multiple probe design across settings, this investigation evaluated the effectiveness of providing text-based prompts on an Apple Watch (1) to a child with ASD within a school setting. A mentor transmitted 2-step written directives via text message to the participant’s Apple Watch. The participant was instructed to attend to, read, and follow directives received on the watch. Results demonstrated that the intervention improved directive-following as well as increased the instructor’s distance from the learner. It is proposed that JIT supports sent to a learner’s smart watch may reduce the obtrusiveness of traditional prompting while also maintaining the naturalness of ongoing social or academic interactions. Clinical limitations and implications are discussed.

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16. Rodin RE, Dou Y, Kwon M, Sherman MA, D’Gama AM, Doan RN, Rento LM, Girskis KM, Bohrson CL, Kim SN, Nadig A, Luquette LJ, Gulhan DC, Park PJ, Walsh CA. The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. Nat Neurosci ;2021 (Jan 11)

We characterize the landscape of somatic mutations-mutations occurring after fertilization-in the human brain using ultra-deep ( 250×) whole-genome sequencing of prefrontal cortex from 59 donors with autism spectrum disorder (ASD) and 15 control donors. We observe a mean of 26 somatic single-nucleotide variants per brain present in ≥4% of cells, with enrichment of mutations in coding and putative regulatory regions. Our analysis reveals that the first cell division after fertilization produces 3.4 mutations, followed by 2-3 mutations in subsequent generations. This suggests that a typical individual possesses 80 somatic single-nucleotide variants present in ≥2% of cells-comparable to the number of de novo germline mutations per generation-with about half of individuals having at least one potentially function-altering somatic mutation somewhere in the cortex. ASD brains show an excess of somatic mutations in neural enhancer sequences compared with controls, suggesting that mosaic enhancer mutations may contribute to ASD risk.

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17. Rose AJ, Kelley KR, Raxter A. Effects of PEERS(®) Social Skills Training on Young Adults with Intellectual and Developmental Disabilities During College. Behav Modif ;2021 (Jan 11):145445520987146.

The Program for the Education and Enrichment of Relational Skills (PEERS(®)) was used to provide weekly social skills training to a group of 10 college students with intellectual and developmental disabilities (IDD) between ages 18 and 26 attending an inclusive residential postsecondary college program. Additionally, Circles curriculum was used to supplement the PEERS curriculum for teaching social relationship boundaries. An average of 12 sessions per semester of PEERS(®) training sessions were conducted over each academic year. The present study examines the impact of the program on social skills, friendship qualities, and conversational skills. Results showed increased social skill knowledge, friendship quality, and conversational skills from pretest to posttest intervention. In this paper, we discuss the training program, results, implications for practice, limitations, and future research needs.

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18. Şahan AK, Öztürk N, Demir N, Karaduman AA, Serel Arslan S. A Comparative Analysis of Chewing Function and Feeding Behaviors in Children with Autism. Dysphagia ;2021 (Jan 11)

The present study was aimed to compare chewing performance level and feeding behaviors of children with autism to their typically developing peers. A total of 56 children (37 children with autism, 19 typically developing children) participated in the study. Feeding-related characteristics and observational oral-motor characteristics of children were recorded. The Karaduman Chewing Performance Scale (KCPS) was used to assess chewing performance level, the Behavioral Pediatrics Feeding Assessment Scale (BPFAS) was used to assess feeding behaviors of children, and the Turkish version of the Feeding/Swallowing Impact Survey (T-FS-IS) was used to evaluate the effect of the child’s feeding and swallowing problem on their parents. Results showed that transition time to solid food intake for children with autism was later than typically developing children (p = 0.014), and they had more tongue thrusting (p = 0.009). There were differences between groups in terms of KCPS (p = 0.002), BPFAS (Total frequency score, p = 0.008 ; Child frequency score, p = 0.017 ; Parent frequency score, p = 0.021 ; Restriction score, p = 0.004), and T-FS-IS (Daily activities, p = 0.004 ; Worry, p = 009 ; Feeding difficulties, p = 0.031 ; Total score, p = 0.001). The present study shows that children with autism had worse chewing function and worse mealtime functioning compared to typically developing children. Their parents perceived mealtime behavior as more problematic, and parents’ quality of life related to feeding/swallowing disorders was worse compared to parents of typically developing children. The study results reveal the importance of early assessment and intervention of chewing function and feeding behaviors in children with autism.

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19. Sánchez Pérez P, Nordahl-Hansen A, Kaale A. The Role of Context in Language Development for Children With Autism Spectrum Disorder. Front Psychol ;2020 ;11:563925.

Parent and preschool teacher ratings of the 10 noun categories of MacArthur-Bates Communication Development Inventory (CDI) were used to study expressive language in 2-4-year-old children with autism spectrum disorder (ASD) (N = 58) across the home and preschool context. There was no significant difference in the total number of words the children said in the two contexts, but the children said significantly more words in the noun categories « Furniture and rooms » and « People » at home. Only one third of the words the children said were said both at home and in the preschool, while the other two thirds were said only at home or only in preschool. This suggests that what words the children use across contexts differ substantially and that their vocabulary is larger than it seems when measured only in one context. This novel study highlights the importance of assessing the language in children with ASD in multiple contexts in order to better measure their vocabulary and to design appropriate language interventions.

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20. Sherman MA, Rodin RE, Genovese G, Dias C, Barton AR, Mukamel RE, Berger B, Park PJ, Walsh CA, Loh PR. Large mosaic copy number variations confer autism risk. Nat Neurosci ;2021 (Jan 11)

Although germline de novo copy number variants (CNVs) are known causes of autism spectrum disorder (ASD), the contribution of mosaic (early-developmental) copy number variants (mCNVs) has not been explored. In this study, we assessed the contribution of mCNVs to ASD by ascertaining mCNVs in genotype array intensity data from 12,077 probands with ASD and 5,500 unaffected siblings. We detected 46 mCNVs in probands and 19 mCNVs in siblings, affecting 2.8-73.8% of cells. Probands carried a significant burden of large (>4-Mb) mCNVs, which were detected in 25 probands but only one sibling (odds ratio = 11.4, 95% confidence interval = 1.5-84.2, P = 7.4 × 10(-4)). Event size positively correlated with severity of ASD symptoms (P = 0.016). Surprisingly, we did not observe mosaic analogues of the short de novo CNVs recurrently observed in ASD (eg, 16p11.2). We further experimentally validated two mCNVs in postmortem brain tissue from 59 additional probands. These results indicate that mCNVs contribute a previously unexplained component of ASD risk.

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21. Vyshedskiy A. Imagination in Autism : A Chance to Improve Early Language Therapy. Healthcare (Basel) ;2021 (Jan 11) ;9(1)

Children with autism often have difficulties in imaginative play, Theory of Mind, and playing out different scenarios in their minds. Research shows that the root of these problems may be the voluntary imagination network that involves the lateral prefrontal cortex and its long frontoposterior connections to the temporal-parietal-occipital area. Previously disconnected visuospatial issues (stimulus overselectivity and tunnel vision) and language issues (lack of comprehension of spatial prepositions and complex recursive sentences) may be explained by the same voluntary imagination deficit. This review highlights the new insights into the mechanism of voluntary imagination, its difference from involuntary imagination, and its unusually strong critical period. Clearer developmental terminology and a better understanding of voluntary imagination have the potential to facilitate communication between therapists and parents, and improve therapy outcomes in children.

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22. Wu J, Dai YC, Lan XY, Zhang HF, Bai SZ, Hu Y, Han SP, Han JS, Zhang R. Postnatal AVP treatments prevent social deficit in adolescence of valproic acid-induced rat autism model. Peptides ;2021 (Jan 7) ;137:170493.

Studies have shown that arginine-vasopressin (AVP) is an important neuropeptide regulating social behaviors. The present work aimed to detect changes in the AVP numbers and level in a valproic acid (VPA)-induced rat model of autism and the underlying mechanism of its pathogenesis. Our results indicated that infants exposed to VPA showed obviously impaired communication and repetitive behaviors with reduced number of AVP-ir cells in paraventricular nucleus (PVN) and cerebrospinal fluid (CSF). The postnatal subcutaneous injection of AVP can alleviate social preference deficits and stereotyped behaviors, accompanied with the increase of the AVP concentrations in the CSF. We concluded that AVP system was involved in etiology of VPA-induced autism-like symptoms and postnatal AVP treatment rescued the behavioral deficits,which could be a promising treatment for autism.

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23. Zürcher NR, Walsh EC, Phillips RD, Cernasov PM, Tseng CJ, Dharanikota A, Smith E, Li Z, Kinard JL, Bizzell JC, Greene RK, Dillon D, Pizzagalli DA, Izquierdo-Garcia D, Truong K, Lalush D, Hooker JM, Dichter GS. A simultaneous [(11)C]raclopride positron emission tomography and functional magnetic resonance imaging investigation of striatal dopamine binding in autism. Transl Psychiatry ;2021 (Jan 11) ;11(1):33.

The social motivation hypothesis of autism posits that autism spectrum disorder (ASD) is characterized by impaired motivation to seek out social experience early in life that interferes with the development of social functioning. This framework suggests that impaired mesolimbic dopamine function underlies compromised responses to social rewards in ASD. Although this hypothesis is supported by functional magnetic resonance imaging (fMRI) studies, no molecular imaging study has evaluated striatal dopamine functioning in response to rewards in ASD. Here, we examined striatal functioning during monetary incentive processing in ASD and controls using simultaneous positron emission tomography (PET) and fMRI. Using a bolus + infusion protocol with the D2/D3 dopamine receptor antagonist [(11)C]raclopride, voxel-wise binding potential (BP(ND)) was compared between groups (controls = 12, ASD = 10) in the striatum. Striatal clusters showing significant between-group BP(ND) differences were used as seeds in whole-brain fMRI general functional connectivity analyses. Relative to controls, the ASD group demonstrated decreased phasic dopamine release to incentives in the bilateral putamen and left caudate, as well as increased functional connectivity between a PET-derived right putamen seed and the precuneus and insula. Within the ASD group, decreased phasic dopamine release in the putamen was related to poorer theory-of-mind skills. Our findings that ASD is characterized by impaired striatal phasic dopamine release to incentives provide support for the social motivation hypothesis of autism. PET-fMRI may be a suitable tool to evaluate novel ASD therapeutics targeting the striatal dopamine system.

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