1. Adams RE, Zheng S, Taylor JL, Bishop SL. Ten weeks in: COVID-19-related distress in adults with autism spectrum disorder. Autism : the international journal of research and practice. 2021; 25(7): 2140-5.

This study used data collected from 275 adults in the United States with autism spectrum disorder both before the pandemic and then 10 weeks into the pandemic to assess COVID-19-related distress and its impact. Two-thirds of those surveyed reported some type of distress related to the pandemic (i.e. difficulty coping or negative impact on emotional and mental health). While there were no changes in depressive and anxiety symptoms from prior to COVID-19 to 10 week later in the group as a whole, self-reported distress predicted increases in both anxiety and depression across the two timepoints. Furthermore, adults with higher levels of anxiety prior to the pandemic were more likely to report distress, and women were more likely to report a negative impact of the pandemic on their emotional and mental health. Findings highlight the importance of monitoring with adults with autism spectrum disorder to assess their need for mental health support, and providing ongoing support to those who already experience anxiety even before the pandemic.

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2. Adamson LB, Suma K, Bakeman R, Kellerman A, Robins DL. Auditory joint attention skills: Development and diagnostic differences during infancy. Infant behavior & development. 2021; 63: 101560.

To date, joint attention skill assessments have focused on children’s responses to multimodal bids (RJA) and their initiation of bids (IJA) to multimodal spectacles. Here we gain a systematic view of auditory joint attention skills using a novel assessment that measures both auditory and multimodal RJA and IJA. In Study 1, 47 typically developing (TD) children were tested 5 times from 12 to 30 months to document auditory joint attention skill development. In Study 2, 113 toddlers (39 TD, 33 autism spectrum disorder [ASD], and 41 non-ASD developmental disorders [DD]; average age 22.4 months) were tested to discern the effects of ASD. Our findings fit well within the established depiction of joint attention skills with one important caveat: auditory items were far more difficult to execute than multimodal ones. By 24 months, TD children passed multimodal RJA items at the near-ceiling level, an accomplishment not reached even by 30 months for auditory RJA items. Intentional communicative IJA bids also emerged more slowly to auditory spectacles than to multimodal spectacles. Toddlers with DD outperformed toddlers with ASD on multimodal RJA items but toddlers in both groups rarely passed any auditory RJA items. Toddlers with ASD often monitored their partner’s attention during IJA items, albeit less often than toddlers with DD and TD toddlers, but they essentially never produced higher-level IJA bids, regardless of modality. Future studies should investigate further how variations in bids and targets affect auditory joint attention skills and probe the relation between these skills and language development.

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3. Dudukina E, Horváth-Puhó E, Sørensen HT, Ehrenstein V. Long-term risk of epilepsy, cerebral palsy and attention-deficit/hyperactivity disorder in children affected by a threatened abortion in utero. International journal of epidemiology. 2021; 50(5): 1540-53.

BACKGROUND: The birth of a child affected by a threatened abortion (TAB) in utero is associated with autism spectrum disorder; association with other neurological disorders is unknown. METHODS: This nationwide registry-based cohort study included singletons live-born in Denmark (1979-2010), followed through 2016. The outcomes were epilepsy, cerebral palsy (CP) and attention-deficit/hyperactivity disorder (ADHD). We used Cox regression to compute hazard ratios (HRs), adjusted for birth year, birth order, parental age, morbidity, medication use and maternal socio-economic factors. To remove time-invariant family-shared confounding, we applied sibling analyses. RESULTS: The study population included 1 864 221 singletons live-born in 1979-2010. Among the TAB-affected children (N = 59 134) vs TAB-unaffected children, at the end of follow-up, the cumulative incidence was 2.2% vs 1.6% for epilepsy, 0.4% vs 0.2% for CP and 5.5% vs 4.2% for ADHD (for children born in 1995-2010). The adjusted HRs were 1.25 [95% confidence interval (CI) 1.16-1.34] for epilepsy, 1.42 (95% CI 1.20-1.68) for CP and 1.21 (95% CI 1.14-1.29) for ADHD. In the sibling design, the adjusted HRs were unity for epilepsy (full siblings: 0.96, 95% CI 0.82-1.12; maternal: 1.04, 95% CI 0.90-1.20; paternal: 1.08, 95% CI 0.93-1.25) and ADHD (full: 1.08, 95% CI 0.92-1.27; maternal: 1.04, 95% CI 0.90-1.20; paternal: 1.08, 95% CI 0.93-1.25). For CP, HRs shifted away from unity among sibling pairs (full: 2.92, 95% CI 1.33-6.39; maternal: 2.03, 95% CI 1.15-3.57; paternal: 3.28, 95% CI 1.36-7.91). CONCLUSIONS: The birth of a child affected by TAB in utero was associated with a greater risk of CP, but not epilepsy or ADHD.

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4. Ford ALB, Johnson LD. The Use of Generalizability Theory to Inform Sampling of Educator Language Used With Preschoolers With Autism Spectrum Disorder. Journal of speech, language, and hearing research : JSLHR. 2021; 64(5): 1748-57.

Purpose A myriad features can impact the nature, frequency, and length of adult-child interactions important for language learning. Empirical investigations of language learning opportunities for young children with autism spectrum disorder (ASD) provide limited generalizable insight, with inferences more constrained to the sample than is often considered. The aim of this study was to explore a multidimensional understanding of reliability and define optimal measurement procedures for a measurement approach used to examine the language of preschool educators interacting with children with ASD. Method We employed the logic of Generalizability Theory to differentiate sources of error for two measurement facets, occasion and observer. We video-recorded four 15-min occasions of educator-child interactions for 11 participants with ASD during free-play in their respective inclusive preschool classrooms. Two trained observers coded all videos for six educator language variables: open-ended questions/statements, choice questions, yes/no questions, imitation prompts, statements, and other talk. Results The generalizability studies illustrated that, across all variables measured, observer accounted for little to no error. Occasion, however, accounted for much of the error for all language variables. To determine the number of occasions needed to achieve stable estimates of the variables, we manipulated occasion in the decision study. Five to more than 15 occasions were needed to achieve stability in educator language variables. Conclusion To advance our understanding of the language learning environments of preschool classrooms that serve children with ASD, researchers must understand how aspects of the measurement design in those environments, such as occasion, impact the inferences they make.

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5. He Q, Wang Q, Wu Y, Yi L, Wei K. Automatic classification of children with autism spectrum disorder by using a computerized visual-orienting task. PsyCh journal. 2021; 10(4): 550-65.

Early screening and diagnosis of autism spectrum disorder (ASD) primarily rely on behavioral observations by qualified clinicians whose decision process can benefit from the combination of machine learning algorithms and sensor data. We designed a computerized visual-orienting task with gaze-related or non-gaze-related directional cues, which triggered participants’ gaze-following behavior. Based on their eye-movement data registered by an eye tracker, we applied the machine learning algorithms to classify high-functioning children with ASD (HFA), low-functioning children with ASD (LFA), and typically developing children (TD). We found that TD children had higher success rates in obtaining rewards than HFA children, and HFA children had higher rates than LFA children. Based on raw eye-tracking data, our machine learning algorithm could classify the three groups with an accuracy of 81.1% and relatively high sensitivity and specificity. Classification became worse if only data from the gaze or nongaze conditions were used, suggesting that « less-social » directional cues also carry useful information for distinguishing these groups. Our findings not only provide insights about visual-orienting deficits among children with ASD but also demonstrate the promise of combining classical behavioral paradigms with machine learning algorithms for aiding the screening for individuals with ASD.

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6. Maenner MJ, Graves SJ, Peacock G, Honein MA, Boyle CA, Dietz PM. Comparison of 2 Case Definitions for Ascertaining the Prevalence of Autism Spectrum Disorder Among 8-Year-Old Children. American journal of epidemiology. 2021; 190(10): 2198-207.

The Autism and Developmental Disabilities Monitoring (ADDM) Network conducts population-based surveillance of autism spectrum disorder (ASD) among 8-year-old children in multiple US communities. From 2000 to 2016, investigators at ADDM Network sites classified ASD from collected text descriptions of behaviors from medical and educational evaluations which were reviewed and coded by ADDM Network clinicians. It took at least 4 years to publish data from a given surveillance year. In 2018, we developed an alternative case definition utilizing ASD diagnoses or classifications made by community professionals. Using data from surveillance years 2014 and 2016, we compared the new and previous ASD case definitions. Compared with the prevalence based on the previous case definition, the prevalence based on the new case definition was similar for 2014 and slightly lower for 2016. Sex and race/ethnicity prevalence ratios were nearly unchanged. Compared with the previous case definition, the new case definition’s sensitivity was 86% and its positive predictive value was 89%. The new case definition does not require clinical review and collects about half as much data, yielding more timely reporting. It also more directly measures community identification of ASD, thus allowing for more valid comparisons among communities, and reduces resource requirements while retaining measurement properties similar to those of the previous definition.

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7. Myers AK, Talbot CF, Del Rosso LA, Maness AC, Simmons SMV, Garner JP, Capitanio JP, Parker KJ. Assessment of medical morbidities in a rhesus monkey model of naturally occurring low sociality. Autism research : official journal of the International Society for Autism Research. 2021; 14(7): 1332-46.

People with autism spectrum disorder (ASD) exhibit a variety of medical morbidities at significantly higher rates than the general population. Using an established monkey model of naturally occurring low sociality, we investigated whether low-social monkeys show an increased burden of medical morbidities compared to their high-social counterparts. We systematically reviewed the medical records of N = 152 (n = 73 low-social; n = 79 high-social) rhesus macaques (Macaca mulatta) to assess the number of traumatic injury, gastrointestinal, and inflammatory events, as well as the presence of rare medical conditions. Subjects’ nonsocial scores, determined by the frequency they were observed in a nonsocial state (i.e., alone), and macaque Social Responsiveness Scale-Revised (mSRS-R) scores were also used to test whether individual differences in social functioning were related to medical morbidity burden. Medical morbidity type significantly differed by group, such that low-social monkeys incurred higher rates of traumatic injury compared to high-social monkeys. Nonsocial scores and mSRS-R scores also significantly and positively predicted traumatic injury rates, indicating that monkeys with the greatest social impairment were most impacted on this health measure. These findings from low-social monkeys are consistent with well-documented evidence that people with ASD incur a greater number of traumatic injuries and receive more peer bullying than their neurotypical peers, and add to growing evidence for the face validity of this primate model. LAY SUMMARY: People with autism exhibit multiple medical problems at higher rates than the general population. We conducted a comprehensive medical record review of monkeys that naturally exhibit differences in sociality and found that low-social monkeys are more susceptible to traumatic injuries than high-social monkeys. These results are consistent with reports that people with autism also incur greater traumatic injury and peer bullying and add to growing evidence for the validity of this monkey model.

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8. Nadeau MV, Richard E, Wallace GL. The Combination of Food Approach and Food Avoidant Behaviors in Children with Autism Spectrum Disorder: « Selective Overeating ». Journal of autism and developmental disorders. 2022; 52(3): 987-94.

Based on parent questionnaires, we demonstrate the presence of an eating pattern among children with autism spectrum disorder (ASD) that is characterized by both food selectivity and eating in the absence of hunger. Children with ASD were categorized as engaging in eating patterns of selective overeating, selective eating only, overeating only, or typical eating. Group differences were found in the areas of diet composition, body mass index, and behavioral flexibility. Both the selective overeating group and selective eating only group were prone to favor calorie-dense, nutrient-deficient diets as compared to other groups. Eating groups also presented with differing profiles of everyday behavioral flexibility. These results suggest that selective overeating in ASD may present unique challenges and require tailored interventions.

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9. Quan J, Panaccione N, Jeong J, Underwood FE, Coward S, Windsor JW, Ronksley PE, Gidrewicz D, deBruyn J, Turner JM, Lebwohl B, Kaplan GG, King JA. Association Between Celiac Disease and Autism Spectrum Disorder: A Systematic Review. Journal of pediatric gastroenterology and nutrition. 2021; 72(5): 704-11.

OBJECTIVE: The aim of the study was to perform a systematic review assessing the research investigating the association between celiac disease (CD) and autism spectrum disorder (ASD). METHODS: A literature search of MEDLINE and EMBASE was performed without limits placed on year or language. Observational studies reporting on the occurrence of CD among patients with ASD and/or the occurrence of ASD among patients with CD were included. Study design, characteristics, diagnostic criteria for ASD and CD, and the frequency of positive cases in the studied sample were recorded. Study quality was assessed using an adapted Newcastle-Ottawa Quality Assessment Scale. Due to substantial heterogeneity between studies, a meta-analysis was not performed. RESULTS: Of the 298 unique citations identified within our search strategy, 17 articles evaluating the association between CD and ASD were included. Of those articles, 13 observed samples of patients with ASD, and 6 observed samples of patients with CD. Overall, most studies had small sample sizes and reported no evidence for an association between the 2 conditions. However, a limited number of population-based studies of higher quality suggested a potential association between CD and ASD. CONCLUSIONS: Most studies assessing an association between CD and ASD are at risk for systematic and/or random error. A potential link has, however, been shown in a handful of high-quality studies, and, therefore, this comorbidity cannot be ruled out. Future studies should recruit larger sample sizes, include precise definitions of CD and ASD, and exclude patients with ASD on a gluten-free diet.

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10. Quiñones-Camacho LE, Fishburn FA, Belardi K, Williams DL, Huppert TJ, Perlman SB. Dysfunction in interpersonal neural synchronization as a mechanism for social impairment in autism spectrum disorder. Autism research : official journal of the International Society for Autism Research. 2021; 14(8): 1585-96.

Social deficits in autism spectrum disorder (ASD) have been linked to atypical activation of the mentalizing network. This work, however, has been limited by a focus on the brain activity of a single person during computerized social tasks rather than exploring brain activity during in vivo interactions. The current study assessed neural synchronization during a conversation as a mechanism for social impairment in adults with ASD (n = 24) and matched controls (n = 26). Functional near-infrared spectroscopy (fNIRS) data were collected from the prefrontal cortex (PFC) and tempoparietal junction (TPJ). Participants self-reported on their social communication and videos of the interaction were coded for utterances and conversational turns. As expected, controls showed more neural synchrony than participants with ASD in the TPJ. Also as expected, controls showed less social communication impairment than participants with ASD. However, participants with ASD did not have fewer utterances compared with control subjects. Overall, less neural synchrony in the TPJ was associated with higher social impairment and marginally fewer utterances. Our findings advance our understanding of social difficulties in ASD by linking them to decreased neural synchronization of the TPJ. LAY SUMMARY: The coordination of brain responses is important for efficient social interactions. The current study explored the coordination of brain responses in neurotypical adults and adults with ASD to investigate if difficulties in social interactions are related to difficulties coordinating brain responses in ASD. We found that participants with ASD had more difficulties coordinating brain responses during a conversation with an interacting partner. Additionally, we found that the level of coordination in brain responses was linked to problems with social communication.

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11. Rosenfeld JA, Xiao R, Bekheirnia MR, Kanani F, Parker MJ, Koenig MK, van Haeringen A, Ruivenkamp C, Rosmaninho-Salgado J, Almeida PM, Sá J, Pinto Basto J, Palen E, Oetjens KF, Burrage LC, Xia F, Liu P, Eng CM, Yang Y, Posey JE, Lee BH. Heterozygous variants in SPTBN1 cause intellectual disability and autism. American journal of medical genetics Part A. 2021; 185(7): 2037-45.

Spectrins are common components of cytoskeletons, binding to cytoskeletal elements and the plasma membrane, allowing proper localization of essential membrane proteins, signal transduction, and cellular scaffolding. Spectrins are assembled from α and β subunits, encoded by SPTA1 and SPTAN1 (α) and SPTB, SPTBN1, SPTBN2, SPTBN4, and SPTBN5 (β). Pathogenic variants in various spectrin genes are associated with erythroid cell disorders (SPTA1, SPTB) and neurologic disorders (SPTAN1, SPTBN2, and SPTBN4), but no phenotypes have been definitively associated with variants in SPTBN1 or SPTBN5. Through exome sequencing and case matching, we identified seven unrelated individuals with heterozygous SPTBN1 variants: two with de novo missense variants and five with predicted loss-of-function variants (found to be de novo in two, while one was inherited from a mother with a history of learning disabilities). Common features include global developmental delays, intellectual disability, and behavioral disturbances. Autistic features (4/6) and epilepsy (2/7) or abnormal electroencephalogram without overt seizures (1/7) were present in a subset. Identification of loss-of-function variants suggests a haploinsufficiency mechanism, but additional functional studies are required to fully elucidate disease pathogenesis. Our findings support the essential roles of SPTBN1 in human neurodevelopment and expand the knowledge of human spectrinopathy disorders.

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12. Saez-Suanes GP, García-Villamisar D, Armentia ADP, Dattilo J. Corrigendum to « Emotional dysregulation and uncertainty intolerance as transdiagnostic mediators of anxiety in adults with autism spectrum disorders and intellectual disability » [Research in Developmental Disabilities 106 (2020) 103784]. Research in developmental disabilities. 2021; 113: 103909.

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13. Trabacca A, Craig F. Social distancing and social interaction in children with autism spectrum disorder during the Covid-19 pandemic: a clinical oxymoron. Minerva pediatrics. 2021.

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14. Vasilyev SA, Skryabin NA, Kashevarova AA, Tolmacheva EN, Savchenko RR, Vasilyeva OY, Lopatkina ME, Zarubin AA, Fishman VS, Belyaeva EO, Filippova MO, Shorina AR, Maslennikov AB, Shestovskikh OL, Gayner TA, Čulić V, Vulić R, Nazarenko LP, Lebedev IN. Differential DNA Methylation of the IMMP2L Gene in Families with Maternally Inherited 7q31.1 Microdeletions is Associated with Intellectual Disability and Developmental Delay. Cytogenetic and genome research. 2021; 161(3-4): 105-19.

Most copy number variations (CNVs) in the human genome display incomplete penetrance with unknown underlying mechanisms. One such mechanism may be epigenetic modification, particularly DNA methylation. The IMMP2L gene is located in a critical region for autism susceptibility on chromosome 7q (AUTS1). The level of DNA methylation was assessed by bisulfite sequencing of 87 CpG sites in the IMMP2L gene in 3 families with maternally inherited 7q31.1 microdeletions affecting the IMMP2L gene alone. Bisulfite sequencing revealed comparable levels of DNA methylation in the probands, healthy siblings without microdeletions, and their fathers. In contrast, a reduced DNA methylation index and increased IMMP2L expression were observed in lymphocytes from the healthy mothers compared with the probands. A number of genes were upregulated in the healthy mothers compared to controls and downregulated in probands compared to mothers. These genes were enriched in components of the ribosome and electron transport chain, as well as oxidative phosphorylation and various degenerative conditions. Differential expression in probands and mothers with IMMP2L deletions relative to controls may be due to compensatory processes in healthy mothers with IMMP2L deletions and disturbances of these processes in probands with intellectual disability. The results suggest a possible partial compensation for IMMP2L gene haploinsufficiency in healthy mothers with the 7q31.1 microdeletion by reducing the DNA methylation level. Differential DNA methylation of intragenic CpG sites may affect the phenotypic manifestation of CNVs and explain the incomplete penetrance of chromosomal microdeletions.

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15. Yan W, Siegert RJ, Zhou H, Zou X, Wu L, Luo X, Li T, Huang Y, Guan H, Chen X, Mao M, Xia K, Zhang L, Li E, Li C, Zhang X, Zhou Y, Shih A, Fombonne E, Zheng Y, Han J, Sun Z, Jiang YH, Wang Y. Psychometric properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch analysis. Autism : the international journal of research and practice. 2021; 25(7): 1872-84.

The Autism Spectrum Rating Scale is a behavioural rating scale completed by parents and teachers that is useful for identifying children with an autism spectrum disorder. The development of a modified Autism Spectrum Rating Scale suitable for use in China is important for the identification of children in China with an autism spectrum disorder. In this study, we examined the Modified Chinese Autism Spectrum Rating Scale using a statistical technique known as Rasch analysis. Rasch analysis tests whether the questionnaire meets the standards for modern scientific measurement. We used Rasch analysis to examine data from 2013 children in China including 420 diagnosed with an autism spectrum disorder who had been rated by a parent or grandparent. After removing a small number of items (questions), the Modified Chinese Autism Spectrum Rating Scale met the stringent criteria for Rasch measurement. The availability of a reliable and precise tool for assessing behaviours characteristic of an autism spectrum disorder in Chinese children will improve the identification and diagnosis of autism spectrum disorder in China, thus enabling better provision of support services.

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16. Zhang XH, Chen WJ, Gao XR, Li Y, Cao J, Qiu SJ. Predicting the developmental outcomes of very premature infants via ultrasound classification: A CONSORT – clinical study. Medicine. 2021; 100(15): e25421.

OBJECTIVE: This study aimed to assess the accuracy of ultrasonic grading in determining brain injury in very premature infants and analyze the affecting factors of these neonatal morbidity and mortality, and to investigate the relationship between serial cranial ultrasound (cUS) classification and Mental Developmental Index (MDI)/Psychomotor Developmental Index (PDI) in premature infants. METHODS: A total of 129 very preterm infants (Gestational Age ≤ 28 weeks) were subjected to serial cUS until 6 months or older and classified into 3 degrees in accordance with classification standards. The MDI and PDI (Bayley test) of the infants were measured until the infants reached the age of 24 months or older. The consistency between Term Equivalent Age (TEA)-cUS and TEA- magnetic resonance imaging (MRI) was calculated. Ordinal regression was performed to analyze the relationship among severe disease, early cUS classifications, psychomotor and mental development, and death. Operating characteristic curve were used to analyze the relationship between serial cUS grades and MDI/PDI scores. RESULTS: The mortality and survival rates of 129 very preterm infants were 32.8% and 67.3%, respectively. Among the 86 surviving infants, 20.9% developed mild cerebral palsy (CP) and 5.8% to 6.9% developed severe CP. The consistency between TEA-cUS and TEA-MRI was 88%. Grades 2 and 3 at first ultrasound were associated with adverse mental (OR = 3.2, OR = 3.78) and motor (OR = 2.25, OR = 2.59) development. cUS classification demonstrated high sensitivity (79%-96%). Among all cUS classifications, the specificity of the first cUS was the lowest and that of TEA-cUS was the highest (57% for PDI and 48% for MDI). CONCLUSIONS: Moderate and severe brain injury at first ultrasound is the most important factor affecting the survival rate and brain development of very premature infants. The cUS classification had high sensitivity and high specificity for the prediction of CP, especially in TEA-cUS.

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