1. Corrigendum for ‘Longitudinal development of manual motor ability in autism spectrum disorder from childhood to mid-adulthood relates to adaptive daily living skills’ by Travers et al. (2017). Dev Sci;2022 (Jun 24):e13299.

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2. Abdellaoui A, Verweij KJH. [Genetics and psychiatry]. Tijdschr Psychiatr;2022;64(5):260-265.

For centuries, it has been suspected that the vulnerability to psychiatric problems might be heritable. In the 20th century, this was confirmed through twin and family studies, with heritability estimates ranging from ~30-40% for posttraumatic stress disorder and major depression to ~80 for schizophrenia and autism. In the 21st century, genome-wide association studies (GWASs) were introduced, a hypothesis-free design capable of locating DNA associations.

AIM: To describe the development of genetic research in psychiatry.

METHOD: Overview of selected literature.

RESULTS: Increasingly larger GWASs show that the risk for psychiatric disorders is influenced by a combination of environmental factors and the sum of many genetic variants with small effects that combine to explain much variation. A substantial proportion of these genetic effects overlap between psychiatric disorders, but also with positive outcomes, such as IQ and educational attainment.

CONCLUSION: We are experiencing a revolution in genetics, in which the sample size, and thus the predictive value of DNA, is growing faster than our understanding of the complexity of the inherited risk for psychiatric problems.
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3. Abubakar A, Kipkemoi P. Early intervention in autism spectrum disorder: The need for an international approach. Dev Med Child Neurol;2022 (Jun 23)

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4. Alghamdi MA, Al-Ayadhi L, Hassan WM, Bhat RS, Alonazi MA, El-Ansary A. Bee Pollen and Probiotics May Alter Brain Neuropeptide Levels in a Rodent Model of Autism Spectrum Disorders. Metabolites;2022 (Jun 18);12(6)

Neuropeptides play a major role in maintaining normal brain development in children. Dysfunction of some specific neuropeptides can lead to autism spectrum disorders (ASD) in terms of social interaction and repetitive behavior, but the exact underlying etiological mechanisms are still not clear. In this study, we used an animal model of autism to investigate the role of bee pollen and probiotic in maintaining neuropeptide levels in the brain. We measured the Alpha-melanocyte-stimulating hormone (α-MSH), Beta-endorphin (β-End), neurotensin (NT), and substance P (SP) in brain homogenates of six studied groups of rats. Group I served as control, given only PBS for 30 days; Group II as an autistic model treated with 250 mg PPA/kg BW/day for 3 days after being given PBS for 27 days. Groups III-VI were denoted as intervention groups. G-III was treated with bee pollen (BP) 250 mg/kg body weight/day; G-IV with Lactobacillus paracaseii (LB) (109 CFU/mL) suspended in PBS; G-V with 0.2 g/kg body weight/day Protexin(®), a mixture of probiotics (MPB); and G-VI was transplanted with stool from normal animals (FT) for 27 days prior to the induction of PPA neurotoxicity on the last 3 days of study (days 28-30). The obtained data were analyzed through the use of principal component analysis (PCA), discriminant analysis (DA), hierarchical clustering, and receiver operating characteristic (ROC) curves as excellent statistical tools in the field of biomarkers. The obtained data revealed that brain levels of the four measured neuropeptides were significantly reduced in PPA-treated animals compared to healthy control animals. Moreover, the findings demonstrate the ameliorative effects of bee pollen as a prebiotic and of the pure or mixed probiotics. This study proves the protective effects of pre and probiotics against the neurotoxic effects of PPA presented as impaired levels of α-MSH, β-End, NT, and SP.

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5. Ayaz A, Gezdirici A, Yilmaz Gulec E, Ozalp O, Koseoglu AH, Dogru Z, Yalcintepe S. Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers. Medeni Med J;2022 (Jun 23);37(2):180-193.

OBJECTIVE: This study aimed to demonstrate the diagnostic value of microarray testing in autism spectrum disorder, intellectual disability, and multiple congenital anomalies of unknown etiology, as well as to report some potential candidate genes for autism. METHODS: Microarray analysis records between January 2016 and December 2017 from two Genetic Diagnostic Centers in Turkey, Kanuni Sultan Suleyman and Adana Numune Training and Research Hospital, were compiled. Detected copy number variations (CNVs) were classified as benign, likely benign, variants of uncertain significance (VUS), likely pathogenic, and pathogenic according to American College of Medical Genetics and Genomics guidelines. The clinical findings of the some patients and the literature data were compared. RESULTS: In 109 (24.5%) of 445 patients, a total of 163 CNVs with reporting criterion feature were detected. Sixty-nine (42%) and 8 (5%) of these were evaluated as pathogenic and likely pathogenic, respectively. Fifteen (9%) CNVs were also evaluated as VUS. Pathogenic or likely pathogenic CNVs were detected in 61 (13.6%) of 445 patients. CONCLUSIONS: We found that the probability of elucidating the etiology of microarray method in autism spectrum disorder, intellectual disability, and multiple congenital anomalies is 13.6% with a percentage similar to the literature. We suggest that the MYT1L, PXDN, TPO, and AUTS2 genes are all strong candidate genes for autism spectrum disorders. We detailed the clinical findings of the cases and reported that some CNV regions in the genome may be associated with autism.

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6. Bathelt J, Geurts HM, Borsboom D. More than the sum of its parts: Merging network psychometrics and network neuroscience with application in autism. Netw Neurosci;2022 (Jun);6(2):445-466.

Network approaches that investigate the interaction between symptoms and behaviours have opened new ways of understanding psychological phenomena in health and disorder in recent years. In parallel, network approaches that characterise the interaction between brain regions have become the dominant approach in neuroimaging research. In this paper, we introduce a methodology for combining network psychometrics and network neuroscience. This approach utilises the information from the psychometric network to obtain neural correlates that are associated with each node in the psychometric network (network-based regression). Moreover, we combine the behavioural variables and their neural correlates in a joint network to characterise their interactions. We illustrate the approach by highlighting the interaction between the triad of autistic traits and their resting-state functional connectivity associations. To this end, we utilise data from 172 male autistic participants (10-21 years) from the autism brain data exchange (ABIDE, ABIDE-II) that completed resting-state fMRI and were assessed using the autism diagnostic interview (ADI-R). Our results indicate that the network-based regression approach can uncover both unique and shared neural correlates of behavioural measures. For instance, our example analysis indicates that the overlap between communication and social difficulties is not reflected in the overlap between their functional brain correlates.

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7. Bowsher-Murray C, Gerson S, von dem Hagen E, Jones CRG. The Components of Interpersonal Synchrony in the Typical Population and in Autism: A Conceptual Analysis. Front Psychol;2022;13:897015.

Interpersonal synchrony – the tendency for social partners to temporally co-ordinate their behaviour when interacting – is a ubiquitous feature of social interactions. Synchronous interactions play a key role in development, and promote social bonding and a range of pro-social behavioural outcomes across the lifespan. The process of achieving and maintaining interpersonal synchrony is highly complex, with inputs required from across perceptual, temporal, motor, and socio-cognitive domains. In this conceptual analysis, we synthesise evidence from across these domains to establish the key components underpinning successful non-verbal interpersonal synchrony, how such processes interact, and factors that may moderate their operation. We also consider emerging evidence that interpersonal synchrony is reduced in autistic populations. We use our account of the components contributing to interpersonal synchrony in the typical population to identify potential points of divergence in interpersonal synchrony in autism. The relationship between interpersonal synchrony and broader aspects of social communication in autism are also considered, together with implications for future research.

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8. Cervin M. Developmental signs of ADHD and autism: a prospective investigation in 3623 children. Eur Child Adolesc Psychiatry;2022 (Jun 24)

Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are neurodevelopmental disorders with an early onset. Guidelines recommend a careful evaluation of developmental history when assessing the disorders, but it is unclear how children with ADHD and ASD differ from their peers growing up. In this study, physical, family, psychological, social, and educational information were examined in 3623 ethnically diverse children that were prospectively followed from birth to age 15 as part of the Fragile Families and Child Wellbeing Study. Fifteen-thousand variables were screened, and 506 variables included in the final analyses. Accuracy of the most indicative information to predict ADHD and ASD diagnoses in adolescence was evaluated. Adolescents with ADHD (n = 627) and ASD (n = 91) differed from their peers on a plethora of developmental signs, with signs closely related to the core symptoms of the disorders after age 5 being most indicative of the disorders. Predictive models correctly identified 66% of individuals with ADHD and 81% of those with ASD, but 62-88% of identified cases were false positives. The mean proportion of developmental deviations was 18.7% in the ADHD group, 20.0% in the ASD group, and 15.6% in peers; youth with both ADHD and ASD (n = 50) deviated on 21.8% of all developmental signs and had more pronounced deviations than those with ADHD or ASD alone. ADHD and ASD are characterized by broad and non-specific developmental deviations. Developmental information alone cannot be used to accurately predict diagnostic status in adolescence and false positives are likely if the diagnostic process relies heavily on such information. Developmental deviations are part of normal development and common in children without ADHD and ASD. Etiological heterogeneity and considerable temporal fluctuation in the core characteristics of ADHD and ASD may explain the lack of distinct developmental patterns.

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9. Chua B, Neoh M, Jeon M, Joyce A, Iandolo G, Hayton J, Esposito G, Dimitriou D. Impact of sleep on attention in primary school-aged autistic children: Exploratory cross-cultural comparison between Singapore and UK children. Res Dev Disabil;2022 (Jun 24);128:104271.

BACKGROUND: There is a growing body of research studying the impact sleep has on attention among typically developing (TD) children, but research is lacking among autistic children. AIMS: The present study aimed to explore, for the first time, differences in (1) attention, (2) sleep parameters among primary school-aged Singaporean autistic children (N = 26) and Singaporean TD children (N = 20), and with UK autistic (N = 11) and UK TD children (N = 16), and (3) the impact of sleep on attention. METHODS AND PROCEDURES: Actigraphy was used to objectively assess sleep, and a Continuous Performance Task was used to measure attentional domains. OUTCOMES AND RESULTS: There were inconclusive findings indicating that autistic children had poorer sustained attention than TD children. Although autistic children did not display more sleep difficulties than TD children, they showed shorter actual sleep duration (Singapore ASD = 7:00 h, UK ASD = 7:35 h, p < .01) and longer sleep latency (Singapore ASD = 30:15 min, UK ASD = 60:00 min, p < .01) than clinical recommendations. Sleep difficulties were also present among Singaporean and UK TD children. Both TD groups had less actual sleep duration than recommended (Singapore TD = 6:32 h, UK TD = 8:07 h). Singaporean TD children had sleep efficiency below recommended criterion (78.15%). Sleep impacted attention across all groups, but effects were different for autistic and TD groups. CONCLUSIONS AND IMPLICATIONS: The study highlighted the importance for practitioners and carers to adopt a child-centred approach to assessing sleep and attentional difficulties, especially among autistic children due to the high variability in performance within the group. The impact of cultural and school-setting differences on sleep was also raised.

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10. Constable PA, Marmolejo-Ramos F, Gauthier M, Lee IO, Skuse DH, Thompson DA. Discrete Wavelet Transform Analysis of the Electroretinogram in Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder. Front Neurosci;2022;16:890461.

BACKGROUND: To evaluate the electroretinogram waveform in autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) using a discrete wavelet transform (DWT) approach. METHODS: A total of 55 ASD, 15 ADHD and 156 control individuals took part in this study. Full field light-adapted electroretinograms (ERGs) were recorded using a Troland protocol, accounting for pupil size, with five flash strengths ranging from -0.12 to 1.20 log photopic cd.s.m(-2). A DWT analysis was performed using the Haar wavelet on the waveforms to examine the energy within the time windows of the a- and b-waves and the oscillatory potentials (OPs) which yielded six DWT coefficients related to these parameters. The central frequency bands were from 20-160 Hz relating to the a-wave, b-wave and OPs represented by the coefficients: a20, a40, b20, b40, op80, and op160, respectively. In addition, the b-wave amplitude and percentage energy contribution of the OPs (%OPs) in the total ERG broadband energy was evaluated. RESULTS: There were significant group differences (p < 0.001) in the coefficients corresponding to energies in the b-wave (b20, b40) and OPs (op80 and op160) as well as the b-wave amplitude. Notable differences between the ADHD and control groups were found in the b20 and b40 coefficients. In contrast, the greatest differences between the ASD and control group were found in the op80 and op160 coefficients. The b-wave amplitude showed both ASD and ADHD significant group differences from the control participants, for flash strengths greater than 0.4 log photopic cd.s.m(-2) (p < 0.001). CONCLUSION: This methodological approach may provide insights about neuronal activity in studies investigating group differences where retinal signaling may be altered through neurodevelopment or neurodegenerative conditions. However, further work will be required to determine if retinal signal analysis can offer a classification model for neurodevelopmental conditions in which there is a co-occurrence such as ASD and ADHD.

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11. Dai Y, Liu Y, Zhang L, Ren T, Wang H, Yu J, Liu X, Chen Z, Deng L, Tao M, Tan H, Huang CC, Zhang J, Luo Q, Feng J, Cao M, Li F. Shanghai Autism Early Development: An Integrative Chinese ASD Cohort. Neurosci Bull;2022 (Jun 23)

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12. Fiori S, Scaramuzzo RT, Moretti E, Amador C, Controzzi T, Martinelli A, Filippi L, Guzzetta A, Gargagni L. LUNCH-Lung Ultrasound for early detection of silent and apparent aspiratioN in infants and young CHildren with cerebral palsy and other developmental disabilities: study protocol of a randomized controlled trial. BMC Pediatr;2022 (Jun 23);22(1):360.

BACKGROUND: Children with neurological impairment may have dysphagia and/or gastro-esophageal reflux disease (GERD), which predispose to complications affecting the airways, increasing risk for aspiration-induced acute and chronic lung disease, or secondarily malnutrition, further neurodevelopmental disturbances, stressful interactions with their caregivers and chronic pain. Only multidisciplinary clinical feeding evaluation and empirical trials are applied to provide support to the management of feeding difficulties related to dysphagia or GERD, but no standardized feeding or behavioral measure exists at any age to assess aspiration risk and support the indication to perform a videofluoroscopic swallowing study (VFSS) or a fibre-optic endoscopic examination of swallowing (FEES), in particular in newborns and infants with neurological impairments. Lung ultrasound (LUS) has been proposed as a non-invasive, radiation-free tool for the diagnosis of pulmonary conditions in infants, with high sensitivity and specificity. METHODS: A RCT will be conducted in infants aged between 0 and 6 years having, or being at risk for, cerebral palsy, or other neurodevelopmental disease that determines abnormal muscular tone or motor developmental delay assessed by a quantitative scale for infants or if there is the suspicion of GERD or dysphagia based on clinical symptoms. Infants will be allocated in one of 2 groups: 1) LUS-monitored management (LUS-m); 2) Standard care management (SC-m) and after baseline assessment (T0), both groups will undergo an experimental 6-months follow-up. In the first 3 months, infants will be evaluated a minimum of 1 time per month, in-hospital, for a total of 3 LUS-monitored meal evaluations. Primary and secondary endpoint measures will be collected at 3 and 6 months. DISCUSSION: This paper describes the study protocol consisting of a RCT with two main objectives: (1) to evaluate the benefits of the use of LUS for monitoring silent and apparent aspiration in the management of dysphagia and its impact on pulmonary illness and growth and (2) to investigate the impact of the LUS management on blood sample and bone metabolism, pain and interaction with caregivers. TRIAL REGISTRATION: Trial registration date 02/05/2020; ClinicalTrials.gov Identifier: NCT04253951 .

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13. Godoy PBG, Sumiya FM, Seda L, Shephard E. A systematic review of observational, naturalistic, and neurophysiological outcome measures of nonpharmacological interventions for autism. Braz J Psychiatry;2022 (Jun 24)

OBJECTIVE: Naturalistic and neurophysiological assessments are relevant as outcome measures in autism intervention trials because they provide, respectively, ecologically valid information about functioning and underlying neurocognitive mechanisms. We conducted a systematic review to highlight which specific neurophysiological techniques, experimental tasks, and naturalistic protocols have been used to assess neural and behavioral functioning in autism intervention studies. METHODS: Studies were collected from four electronic databases between October 2019 and February 2020: MEDLINE (via PubMed), PsycINFO, LILACS, and Web of Science, and were included if they used structured observational, naturalistic, or neurophysiological measures to assess the efficacy of a nonpharmacological intervention for ASD. RESULTS: Fourteen different measures were used by 64 studies, with the Autism Diagnostic Observation Schedule the most frequently used instrument. Thirty-seven different coding systems of naturalistic measures were used across 51 studies, most of which used different protocols. Twentyfour neurophysiological measures were used in 16 studies, with different experimental paradigms and neurophysiological components used across studies. CONCLUSIONS: Cross-study variability in assessing the outcomes of autism interventions may obscure comparisons and conclusions about how different behavioral interventions affect autistic social communication and underlying neurophysiological mechanisms.

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14. Harris HA, Bowling A, Santos S, Greaves-Lord K, Jansen PW. Child ADHD and autistic traits, eating behaviours and weight: A population-based study. Pediatr Obes;2022 (Jun 24):e12951.

BACKGROUND: Children with Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD) have an increased obesity risk. Although these conditions commonly co-occur, shared factors relating to obesity risk are unknown. OBJECTIVES: To examine the shared and unique associations of ADHD and autistic traits with eating behaviours and BMI. METHODS: Children (N = 4134) from the population-based Generation R Study were categorized into subgroups based on parent-reported ADHD and autistic traits scores at 6 years: ADHD(High) , ASD(High) , ADHD+ASD(High) and REF (reference group: ADHD+ASD(Low) ). Multiple linear regressions examined the associations between subgroups and eating behaviours (at 10 years) and BMIz (at 14 years), relative to REF. Mediation analyses tested the indirect effect of subgroup and BMIz through eating behaviours. RESULTS: ADHD + ASD(High) children expressed both food approach (increased food responsiveness and emotional overeating) and avoidant eating behaviours (increased emotional undereating, satiety responsiveness/ slowness in eating and picky eating, and decreased enjoyment in food). ASD(High) children were more food avoidant, while ADHD(High) children had more food approach behaviours and greater BMIz. ADHD(High) and BMIz were indirectly associated with food responsiveness and emotional overeating. CONCLUSIONS: ADHD and autistic trait phenotypes show distinct associations with potential obesity risk factors, and further research is needed to improve targeted early intervention.

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15. Herrera Mejía J, Ramos-Jiménez A, Jiménez Vega F, Campos Vega R, González Córdova AF, Wall-Medrano A. [Functional feeding to alleviate gastrointestinal disorders associated with autism spectrum disorders: A systematic review]. Nutr Hosp;2022 (Jun 24);39(3):663-677.

Background: gastrointestinal disorders (GIDs) are common comorbidities in patients with autism spectrum disorders (ASD); treatments with gluten- and casein-free (LGLC) diets or prebiotic/probiotic supplements may reduce the severity of GIDs. Objective: to integrate and discuss the evidence on the effectiveness of LGLC diet therapies and prebiotic/probiotic supplements on GIDs in patients with ASD. Methodology: the guidelines for the publication of systematic reviews and meta-analyses (PRISMA) were used. Participant characteristics, dietary interventions, prebiotic/prebiotic supplementation, effects of interventions on GIDs, risk of bias, and safety of treatments were analyzed. Results: fifteen investigations were analyzed; the prevalence of GIDs among patients with ASD was high (58 %; range, 27-83 %). In more than 20 % of the patients managed with LGLC diets or supplements GID severity decreased (mainly constipation, diarrhea, and abdominal pain). Increases in the counts of beneficial bacteria and a decrease in the proportion of pathogenic bacteria were reported after supplement use. However, all these investigations had significant methodological biases. Conclusions: although reductions in the frequency and severity of some GIDs have been found, the effectiveness of these treatments has not been proven yet. Given the methodological differences in the investigations, the design of rigorous studies to evaluate the therapeutic effects of these treatments on gastrointestinal health in patients with ASD is warranted.

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16. Hickman AR, Selee B, Pauly R, Husain B, Hang Y, Feltus FA. Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study. J Autism Dev Disord;2022 (Jun 23)

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by challenges in social communication as well as repetitive or restrictive behaviors. Many genetic associations with ASD have been identified, but most associations occur in a fraction of the ASD population. Here, we searched for eQTL-associated DNA variants with significantly different allele distributions between ASD-affected and control. Thirty significant DNA variants associated with 174 tissue-specific eQTLs from ASD individuals in the SPARK project were identified. Several significant variants fell within brain-specific regulatory regions or had been associated with a significant change in gene expression in the brain. These eQTLs are a new class of biomarkers that could control the myriad of brain and non-brain phenotypic traits seen in ASD-affected individuals.

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17. Hocking DR, Ardalan A, Abu-Rayya HM, Farhat H, Andoni A, Lenroot R, Kachnowski S. Correction to: Feasibility of a virtual reality-based exercise intervention and low-cost motion tracking method for estimation of motor proficiency in youth with autism spectrum disorder. J Neuroeng Rehabil;2022 (Jun 24);19(1):62.

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18. Kawabe K, Horiuchi F, Hosokawa R, Nakachi K, Soga J, Ueno SI. Influence of an Esports Program on Problematic Gaming in Children with Autistic Spectrum Disorder: A Pilot Study. Behav Sci (Basel);2022 (May 31);12(6)

Esports (electronic sports) programs are a variant of competitive gaming and have expanded worldwide in recent years. The prevalence of problematic gaming and gaming disorders (GD) is predicted to increase in adolescents. Children with autism spectrum disorder (ASD) have a high rate of digital gaming use, and their characteristics, such as social communication deficits and restricted interests, might contribute to problematic gaming. In this study, we aimed to examine whether participation in an Esports program would lead to problematic gaming or GD in children with ASD. The Internet Gaming Disorder Test (IGD-20) scores, Kid-KINDL scores, and gaming time at home were assessed in eight children with ASD before beginning the Esports program and at the three-month follow-up timepoint. The program was held once a week at the welfare service center, where the participants played a set game for 60 min. The results indicated there was no significant worsening in any of the scores after the program. Our program provided the participation time and frequency of Esports, type of game, and motivation of the participants are adequately considered. Even though this pilot study is limited by the small sample size, we concluded that the risk of these activities leading to problematic gaming might be low.

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19. Khanna A, Smith LD, Parish SL, Mitra M. Pregnancy recommendations from women with intellectual and developmental disabilities to their peers. Disabil Health J;2022 (May 22):101343.

BACKGROUND: As recent as the mid-twentieth century, eugenics practices on women with intellectual and developmental disabilities were commonplace. Deinstitutionalization has led to an increasing proportion of women with intellectual and developmental disabilities living in the community and becoming pregnant. Previous research has reported barriers to maternal health care (i.e., perceived provider stigma, inadequate communication, stress surrounding child protective services involvement, and financial strain). Research shows that this population is at increased risk of adverse outcomes including preterm delivery, low birth weight babies, and maternal mortality. OBJECTIVE/HYPOTHESIS: This study aimed to explore recommendations from mothers with intellectual and developmental disabilities for other women to potentially improve pregnancy experiences for this population. METHODS: We conducted semi-structured individual interviews among 16 women with intellectual and developmental disabilities. Data were coded using a content analysis process and iteratively analyzed using inductive and deductive techniques to determine emergent themes. RESULTS: Participants offered recommendations for navigating pregnancy to their peers who are pregnant, or thinking about becoming pregnant. Themes included: (1) planning for birth; (2) advocating at the point-of-care; (3) seeking supports and services; (4) interacting with child protective services; (5) communicating with providers; and (6) exhibiting resilience. CONCLUSION: Our study highlights recommendations for improving pregnancy experiences of women with intellectual and developmental disabilities. Informed by the lived pregnancy experiences of our participants, these recommendations can inform clinician training, new guidelines, and services to support and improve pregnancy experiences for women with intellectual and developmental disabilities.

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20. Khogeer AA, AboMansour IS, Mohammed DA. The Role of Genetics, Epigenetics, and the Environment in ASD: A Mini Review. Epigenomes;2022 (Jun 19);6(2)

According to recent findings, variances in autism spectrum disorder (ASD) risk factors might be determined by several factors, including molecular genetic variants. Accumulated evidence has also revealed the important role of biological and chemical pathways in ASD aetiology. In this paper, we assess several reviews with regard to their quality of evidence and provide a brief outline of the presumed mechanisms of the genetic, epigenetic, and environmental risk factors of ASD. We also review some of the critical literature, which supports the basis of each factor in the underlying and specific risk patterns of ASD. Finally, we consider some of the implications of recent research regarding potential molecular targets for future investigations.

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21. Lee J, Kaat AJ, Roberts MY. Involving Caregivers of Autistic Toddlers in Early Intervention: Common Practice or Exception to the Norm?. Am J Speech Lang Pathol;2022 (Jun 24):1-16.

PURPOSE: Family-centered practice (FCP) is a core component of early intervention (EI) associated with improved child and family outcomes, but little is known about community-based speech-language pathologists’ (SLPs’) inclusion of families in EI. Many caregivers of autistic children experience caregiving-related stress, making these intervention principles especially critical to the provision of optimal services. This study aimed to characterize EI SLPs’ use of FCP coaching strategies and the quality of caregiver-SLP relationships. METHOD: Participants included 25 families with an autistic toddler and their EI SLP. One intervention session for each SLP-family dyad was recorded and coded for the SLP’s use of FCP coaching strategies. Caregivers and SLPs completed surveys about their working alliance, caregiver perceptions of family-centered care, and SLPs’ approach to FCP. RESULTS: SLPs primarily use child-directed strategies without caregiver involvement. When involving caregivers, SLPs infrequently use coaching strategies that are important for caregiver learning and collaboration (e.g., joint planning and guided practice with feedback). However, caregivers perceived their child’s services to be highly family-centered, and caregivers and SLPs rated their working alliance to be of high quality. CONCLUSIONS: The presence of strong caregiver-SLP working alliances alongside infrequent usage of effective coaching strategies indicates that SLPs may engage caregivers in ways that are perceived to be highly collaborative but are not optimal for caregiver involvement in all aspects of their child’s services (goal setting and implementation of intervention). Consideration of family preferences and SLP beliefs about FCP will inform ways to disseminate FCPs needed to optimize families’ capacities to support their child’s development. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.20113550.

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22. Li C, Haegele JA, Sun F, Alves MLT, Ang SHC, Lee J, Ng K, Dos Santos Alves I, Healy S, Huang WY, Rintala P, Tan JSY, Wu Y, Yang H, Kärnä E, Maeng H, Schliemann AL, Ding D. Meeting the 24-h movement guidelines and health-related outcomes among youth with autism spectrum disorder: a seven-country observational study. Child Adolesc Psychiatry Ment Health;2022 (Jun 23);16(1):50.

BACKGROUND: Meeting daily guidelines for physical activity, screen time, and sleep duration is associated with a host of health indicators for youth. In this cross-sectional observational study, we investigated the associations between adherence to the movement guidelines and health-related outcomes among youth with autism spectrum disorder (ASD). METHODS: Parents of youth with ASD (10-17 years) from seven countries and regions were invited to provide online proxy-reports for child’s movement behaviors (i.e., physical activity, sleep and screen time), and health-related outcomes (i.e., body mass index [BMI], general health, and quality of life). A series of multiple linear regression analyses were used to examine the associations between meeting movement guidelines and health-related outcomes, adjusted for covariates. RESULTS: The final sample consisted of 1165 youth with ASD. Compared with youth meeting all three guidelines, a higher BMI z-score was observed in those who met no guidelines (B = 0.62, P = 0.04), « sedentary time only » (B = 0.60, P = 0.047), and « physical activity plus sleep only » (B = 0.85, P = 0.04). Compared with meeting all three guidelines, meeting no guidelines was associated with poorer general health (B = - 0.46, P = 0.02). Further, compared with youth meeting all three guidelines, a lower quality of life score was observed in those who met no guidelines (B = - 0.47, P = 0.02) and « physical activity only » (B = - 0.62, P = 0.03). Lastly, there were dose-response associations between the number of guidelines met and all three health-related outcomes (all P(trend) < 0.05). CONCLUSIONS: In conclusion, meeting more 24-h movement guidelines was generally associated with more favorable health-related outcomes in youth with ASD. The low level of adherence to all three guidelines (2.0%) suggests the urgent need to promote the adoption of all the guidelines in this group.

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23. Miller HL, Thomi M, Patterson RM, Nandy K. Effects of Intersectionality Along the Pathway to Diagnosis for Autistic Children With and Without Co-occurring Attention Deficit Hyperactivity Disorder in a Nationally-Representative Sample. J Autism Dev Disord;2022 (Jun 24)

Children with complex behavioral profiles (e.g., ASD + ADHD) may experience delays in obtaining a final diagnosis. Low-resource or underrepresented groups may be at even greater risk for delayed diagnosis. We assessed the effect of sociodemographic factors, symptom complexity and co-occurring conditions, and identifier of first symptoms on diagnostic trajectories among children aged 3-17 years diagnosed with ASD (n = 52) or ASD + ADHD (n = 352) from a nationally-representative sample. Race/ethnicity and gender disparities were evident in both groups. Race, symptom complexity, and co-occuring conditions predicted age of final diagnosis and wait time between first concern and final diagnosis, both of which were staggeringly high. Results suggest a complex influence of sociodemographic factors on the diagnostic pathway, and risk of health disparities as a function of intersectionality.

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24. Nimbley E, Golds L, Sharpe H, Gillespie-Smith K, Duffy F. Sensory processing and eating behaviours in autism: A systematic review. Eur Eat Disord Rev;2022 (Jun 23)

OBJECTIVES: The aim of this study was to assess the relationship between sensory processing and a broad range of eating behaviours across the lifespan. METHODS: Five electronic databases of published and unpublished quantitative studies were systematically searched, evaluated for risk of bias and synthesised according to identified eating outcomes. RESULTS: Across 25 studies, there was consistent evidence of a relationship between sensory processing and a range of eating behaviours. There was early evidence for the particular role of taste/smell sensitivities, as well as hypersensitivities, although future research is needed looking at different sensory patterns and modalities. There was also tentative evidence to suggest this relationship extends across development. DISCUSSION: Study findings are discussed in relation to implications for sensory-based eating and feeding interventions and the development of eating disorders. Methodological and conceptual limitations are discussed and suggestions for future research are made to address these limitations. A broader investigation of multi-sensory issues and clearly defined eating behaviours, including disordered eating in clinically diagnosed samples, will allow for a more comprehensive and robust understanding of the relationship between sensory processing and eating behaviours in autism.

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25. Pearson A, Rose K, Rees J. ‘I felt like I deserved it because I was autistic’: Understanding the impact of interpersonal victimisation in the lives of autistic people. Autism;2022 (Jun 23):13623613221104546.

Research suggests that autistic people are more likely to be hurt by someone they know (e.g. a friend or a family member) compared to non-autistic people. In this study, we wanted to know how being hurt by someone you know affects autistic people, and what might help them recover. In total, 102 autistic people took part in an interview, where we asked questions like how being hurt by people they know had made them feel and whether anyone they had asked for help had done a good job of supporting them. We analysed what they had said using thematic analysis, which involved reading what everyone said and looking for common themes. Our findings showed that a lot of autistic people think it is normal to be hurt by people you know because it has happened to them so much. This makes many autistic people feel like they need to mask parts of themselves to stay safe, but this also makes them really exhausted. It took some people a long time to realise what had happened to them was wrong, and it was hard to ask for help. People who did ask for help often had bad experiences with professionals (e.g. police) who did not know much about autistic people. They said better support would come from creating more autistic-run support groups and educating people about autism. These findings are important for working out how to help people who have been hurt by people they know.

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26. Sanders JS, Pillai RLI, Sturley R, Sillau S, Asato MR, Aravamuthan BR, Bonuck K, Cervenka MC, Hammond N, Siegel JF, Siasoco V, Margolis BA. Impact of the COVID-19 Pandemic on the Behavioral Health of People With Intellectual and Developmental Disabilities. Psychiatr Serv;2022 (Jun 23):appips202100524.

OBJECTIVE: The authors examined how the COVID-19 pandemic affected the behavioral health of people with intellectual and developmental disabilities (IDD). METHODS: A modified version of the Coronavirus Health Impact Survey-Adapted for Autism and Related Neurodevelopmental Conditions was sent to the authors’ clinical networks and IDD-affiliated organizations from March to June 2021. RESULTS: In total, 437 people with IDD or their caregivers responded to the survey. Diagnoses included intellectual disability (51%) and autism spectrum disorder (48%). More than half (52%) of respondents reported worsened mental health. Losing access to services correlated with declining mental health. Interventions suggested to improve behavioral health included more time with friends and family (68%), more time outdoors (61%), and access to community activities (59%). CONCLUSIONS: COVID-19 affected the behavioral health of individuals with IDD. Survey results highlight the opportunity to leverage physical activity and pandemic-safe social supports as accessible means to mitigate gaps in services.

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27. Shiota Y, Hirosawa T, Yoshimura Y, Tanaka S, Hasegawa C, Iwasaki S, Sano M, An KM, Yokoyama S, Kikuchi M. Effect of CNTNAP2 polymorphism on receptive language in children with autism Spectrum disorder without language developmental delay. Neuropsychopharmacol Rep;2022 (Jun 22)

AIM: The receptive language ability of individuals with autism spectrum disorder (ASD) seems to lag behind expressive language ability. Several autism-related genes may influence this developmental delay. Polymorphism of one such gene, namely, the contactin-associated protein-like 2 gene (CNTNAP2), affects receptive language in individuals with language delay. However, the association between CNTNAP2 polymorphism and receptive language in individuals with no language delay remains unclear. METHODS: We included 59 children with ASD and 57 children with typical development in this study and investigated this association using coarse-grained exact matching. RESULTS: We present the first evidence of an association between CNTNAP2 rs2710102 (A-allele carrier) and reduced receptive language ability in children with ASD whose language development was not delayed. Similarly, among children with typical development, A-allele carriers had lower receptive language ability, but the difference was non-significant. CONCLUSIONS: It is possible that the effect of rs2710102 on receptive language ability is larger in the presence of autism-related genes. Consequently, we speculate that the effect of rs2710102 on receptive language ability would be exerted in combination with other genes. These findings provide new insights into the genetic interactions between mutations associated with common language disorders and ASD and identify molecular mechanisms and risk alleles that contribute to receptive vocabulary. These findings also provide practical guidance in terms of providing candidate genetic markers that may provide opportunities for targeted early intervention to stratify risk and improve prognosis for poor receptive language development in children with ASD.

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28. van Amelsvoort T, Swillen A. [Monogenetic causes of psychiatric disorders: a review]. Tijdschr Psychiatr;2022;64(5):291-294.

BACKGROUND: Because of rapid developments in genetic technology, more underlying genetic causes of psychiatric disorders can be detected which may contribute to better monitoring and treatment of co-morbidities than previously. AIM: Review of monogenetic causes of psychiatric disorders. METHODE: Review of the literature. RESULTATS: Research in people with monogenetic disorders will generate new knowledge and insights on psychopathology and cognitive function in general and pave the way to new treatment targets. In this article we discuss four monogenetic disorders that are relevant for clinical psychiatry and (educational) psychology: fragile X syndrome, tuberous sclerosis, Rett Syndrome, and Huntington’s disease. CONCLUSION: Given the multisystem nature of these genetic disorders, a well-coordinated, multidisciplinary approach by specialized expert centers is highly recommended.

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29. Veatch OJ, Mazzotti DR, Schultz RT, Abel T, Michaelson JJ, Brodkin ES, Tunc B, Assouline SG, Nickl-Jockschat T, Malow BA, Sutcliffe JS, Pack AI. Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data. J Neurodev Disord;2022 (Jun 24);14(1):39.

BACKGROUND: Numerous genes are implicated in autism spectrum disorder (ASD). ASD encompasses a wide-range and severity of symptoms and co-occurring conditions; however, the details of how genetic variation contributes to phenotypic differences are unclear. This creates a challenge for translating genetic evidence into clinically useful knowledge. Sleep disturbances are particularly prevalent co-occurring conditions in ASD, and genetics may inform treatment. Identifying convergent mechanisms with evidence for dysfunction that connect ASD and sleep biology could help identify better treatments for sleep disturbances in these individuals. METHODS: To identify mechanisms that influence risk for ASD and co-occurring sleep disturbances, we analyzed whole exome sequence data from individuals in the Simons Simplex Collection (n = 2380). We predicted protein damaging variants (PDVs) in genes currently implicated in either ASD or sleep duration in typically developing children. We predicted a network of ASD-related proteins with direct evidence for interaction with sleep duration-related proteins encoded by genes with PDVs. Overrepresentation analyses of Gene Ontology-defined biological processes were conducted on the resulting gene set. We calculated the likelihood of dysfunction in the top overrepresented biological process. We then tested if scores reflecting genetic dysfunction in the process were associated with parent-reported sleep duration. RESULTS: There were 29 genes with PDVs in the ASD dataset where variation was reported in the literature to be associated with both ASD and sleep duration. A network of 108 proteins encoded by ASD and sleep duration candidate genes with PDVs was identified. The mechanism overrepresented in PDV-containing genes that encode proteins in the interaction network with the most evidence for dysfunction was cerebral cortex development (GO:0,021,987). Scores reflecting dysfunction in this process were associated with sleep durations; the largest effects were observed in adolescents (p = 4.65 × 10(-3)). CONCLUSIONS: Our bioinformatic-driven approach detected a biological process enriched for genes encoding a protein-protein interaction network linking ASD gene products with sleep duration gene products where accumulation of potentially damaging variants in individuals with ASD was associated with sleep duration as reported by the parents. Specifically, genetic dysfunction impacting development of the cerebral cortex may affect sleep by disrupting sleep homeostasis which is evidenced to be regulated by this brain region. Future functional assessments and objective measurements of sleep in adolescents with ASD could provide the basis for more informed treatment of sleep problems in these individuals.

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30. Vitale SR, Schneider H, Gardner L, Alessandri M, Marker C. Challenging Behavior and Parental Depression: The Effects of Everyday Stressors and Benefit Finding for Parents of Children with Autism Spectrum Disorder. J Autism Dev Disord;2022 (Jun 24)

Children with autism spectrum disorder present with challenging behaviors that can impact caregivers by increasing parental perceived stress and risk for depression. However, positive coping strategies have also been identified as protective factors for parents of children with ASD. The present study examined parental perceived daily stressors and positive coping strategies (i.e., benefit finding) as mediators to depression for parents of children with ASD. A latent profile analysis identified three classes of behavior severity for children with ASD. Across all classes, higher levels of perceived daily stressors predicted increased parental depression, while benefit finding predicted lower parental depression. Results support interventions that increase positive coping strategies to decrease levels of depression in parents of children with ASD.

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31. Walker R, Swain J, Pellicano E. « It’s about sharing a moment »: Parents’ views and experiences of home reading with their autistic children with moderate-to-severe intellectual disabilities. Res Dev Disabil;2022 (Jun 24);128:104289.

BACKGROUND: The home literacy environment plays a critical role in the development of children’s literacy and language development. Little is known, however, about the home literacy environment of autistic children, especially those with moderate-to-severe intellectual disabilities. AIMS: The current study used a sequential mixed-methods design to understand how parents attempt to engage their autistic children in reading activities and support them in learning to read. METHODS AND PROCEDURE: First, 63 parents (53 mothers) whose autistic children attended an autism-specific special school completed a bespoke questionnaire about the home literacy environments for their children (n = 69, age range = 3-11 years, 61 boys, 8 girls). Second, a subsample of parents (n = 19, 15 mothers) participated in focus groups to understand in-depth their views and experiences of home reading with their children (n = 20, age range = 3-11 years, 19 boys, 1 girl). We used reflexive thematic analysis to analyse the focus group data. OUTCOMES AND RESULTS: Across questionnaire and focus group methods, parents were united in considering reading to be an important life skill, a sentiment that was reflected both by their often literacy-rich homes and the ingenuity in their efforts to engage their children in shared home-reading activities – even when such engagement could be challenging. They also emphasised, however, the importance of valuing these activities as an opportunity to « catch a moment » with their child. CONCLUSIONS AND IMPLICATIONS: Parents and teachers should work together to identify ways to enhance autistic children’s engagement in shared home-reading activities, listening to and learning from each other’s experiences and expertise, and to show what is possible within each learning context.

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32. Wehman P, Schall C, Avellone L, McDonough J, Whittenburg H, Dubois T, Broda M. Effects of a 9-Month Military-Base Internship on the Competitive Integrated Employment of Military Dependent and Connected Youth with ASD. J Autism Dev Disord;2022 (Jun 23):1-17.

This waitlist-controlled cluster randomized clinical trial presents the results of PS + ASD for military dependent and connected youth with ASD. Following earlier findings regarding PS + ASD, this study expands upon that previous work by including a new population, military dependent and connected transition aged youth with ASD. Findings indicate that military dependent and connected youth who participated in PS + ASD gained competitive integrated employment at 60% despite the impact of the COVID-19 pandemic and economic downturn. In addition, these youth worked a mean of 24.42 h weekly and earned an average hourly wage of $9.38 at one year post baseline while the waitlist control group participants did not gain CIE. In addition, by 18 months, 58.3% of participants gained positions in federal employment. Implications of the study are discussed.

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33. Weng Z, Yue Z, Zhu Y, Chen JY. DEMA: a distance-bounded energy-field minimization algorithm to model and layout biomolecular networks with quantitative features. Bioinformatics;2022 (Jun 24);38(Suppl 1):i359-i368.

SUMMARY: In biology, graph layout algorithms can reveal comprehensive biological contexts by visually positioning graph nodes in their relevant neighborhoods. A layout software algorithm/engine commonly takes a set of nodes and edges and produces layout coordinates of nodes according to edge constraints. However, current layout engines normally do not consider node, edge or node-set properties during layout and only curate these properties after the layout is created. Here, we propose a new layout algorithm, distance-bounded energy-field minimization algorithm (DEMA), to natively consider various biological factors, i.e., the strength of gene-to-gene association, the gene’s relative contribution weight and the functional groups of genes, to enhance the interpretation of complex network graphs. In DEMA, we introduce a parameterized energy model where nodes are repelled by the network topology and attracted by a few biological factors, i.e., interaction coefficient, effect coefficient and fold change of gene expression. We generalize these factors as gene weights, protein-protein interaction weights, gene-to-gene correlations and the gene set annotations-four parameterized functional properties used in DEMA. Moreover, DEMA considers further attraction/repulsion/grouping coefficient to enable different preferences in generating network views. Applying DEMA, we performed two case studies using genetic data in autism spectrum disorder and Alzheimer’s disease, respectively, for gene candidate discovery. Furthermore, we implement our algorithm as a plugin to Cytoscape, an open-source software platform for visualizing networks; hence, it is convenient. Our software and demo can be freely accessed at http://discovery.informatics.uab.edu/dema. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

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34. Wiscons LZ. Particularizing the picture: Features and uses of instantiation stories told by clinicians doing autism diagnosis. Soc Sci Med;2022 (Jun 24);306:115163.

Diagnosis is the narrative process through which professional clinicians transform experiences of illness and disability into disease (Hunter, 1991; Jutel, 2009; Kleinman et al., 1978). Maynard and Turowetz (2017a) found that the narrative structure for autism diagnosis consists of two primary story types concerning the conduct of children under assessment: (1) tendency stories about propensities or quantifications of behavior, and (2) instantiation stories that describe single instances of conduct occurring at a specific time or place. Instantiation stories represent a mechanism by which clinicians might preserve particulars about children under assessment in a way that is informative for configuring diagnoses that attend to the child’s individuality rather than as a generic autistic child. This paper constitutes an investigation into the uses and features of instantiation stories as told by clinicians doing autism diagnosis. Clinicians primarily use instantiation stories to support generalizations about the child that relate to official diagnostic criteria (Excerpt 1). Clinicians also use instantiation stories to index instances of conduct that apparently misalign with a tendency description and the diagnostic picture (Excerpt 2). In such cases, clinicians work to demonstrate how the generalization endures despite the apparent misalignment. Furthermore, clinicians may use instantiation stories to tell about humorous or otherwise « storyable » (Sacks, 1992) conduct (Excerpt 3). Finally, clinicians sometimes use instantiation stories to mitigate the delivery of a diagnosis (Excerpt 4).

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35. Wong OWH, Lam AMW, Or BPN, Mo FYM, Shea CKS, Lai KYC, Ma SL, Hung SF, Chan S, Kwong TNY, Wong S, Leung PWL. Disentangling the relationship of gut microbiota, functional gastrointestinal disorders and autism: a case-control study on prepubertal Chinese boys. Sci Rep;2022 (Jun 23);12(1):10659.

Emerging evidence of an altered gut microbiome in autism spectrum disorder (ASD) suggests a pathomechanism through the gut-brain axis despite the inconsistent microbiome profile reported across studies. One of the knowledge gaps in the existing ASD microbiota studies is the lack of systematic exploration of the role of comorbid functional gastrointestinal disorder (FGID) in the association of ASD and altered gut microbiome. Consequently, 92 ASD and 112 age-matched typically developing (TD) boys were profiled on general psychopathology, FGID status by Rome IV classification, and gut microbiota using 16S ribosomal RNA amplicon sequencing at the V4 hypervariable region. Compared to TD, a significant decrease in the within-sample abundance of taxa was observed in ASD, regardless of FGID status. The microbiota of ASD FGID+ and ASD FGID- clustered apart from the TD groups. The microbiota of ASD FGID+ also showed qualitative differences from that of ASD FGID- and had the highest-level Firmicutes: Bacteroidetes ratio, which was paralleled by elevated levels of anxiety and overall psychopathology. The altered gastrointestinal microbiota composition in ASD appeared to be independent of comorbid FGID. Further studies should address how FGID may mediate neuropsychiatric symptoms in ASD through inflammation along the microbiota-gut-brain axis.

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36. Wu JJ, Liu ZP, Xu CY, Zhang XL, Liu XW, Wang JY, Guo YF. Endoscopic Management of Recurrent Maxillary Sinus Ameloblastoma in a Child With Autism Spectrum Disorder: A Case Report. Ear Nose Throat J;2022 (Jun 23):1455613221106218.

Ameloblastomas are slow-growing, aggressive odontogenic epithelial tumors that originate from the jawbone. One of the most easily relapsing maxillofacial tumors, ameloblastomas mainly occur in the mandibular molar area and ascending branch, although they can occasionally occur in the nasal cavity and paranasal sinuses. A 14-year-old child with autism spectrum disorder underwent sinus computed tomography (CT) under anesthesia. A swollen tumor had grown in the left maxillary sinus, and the bone of the maxillary sinus was damaged. Nine months after the first operation, recurrence was observed in the left maxillary sinus. The pathological diagnosis was ameloblastoma. Due to the child’s inability to communicate and cooperate with the treatment normally, he underwent endoscopic surgery again combined with low-temperature plasma treatment. No tumor recurrence was found on reexamination 6 months after surgery.

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37. Zhang R. Oxytocin – A key to aetiology and treatment for Autism Spectrum Disorder. EBioMedicine;2022 (Jun 24);81:104126.

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38. Zhuang W, Liu H, He Z, Ju J, Gao Q, Shan Z, Lei L. miR-92a-2-5p Regulates the Proliferation and Differentiation of ASD-Derived Neural Progenitor Cells. Curr Issues Mol Biol;2022 (May 24);44(6):2431-2442.

Autism spectrum disorder (ASD) is a group of complex neurodevelopmental disorders with abnormal behavior. However, the pathogenesis of ASD remains to be clarified. It has been demonstrated that miRNAs are essential regulators of ASD. However, it is still unclear how miR-92a-2-5p acts on the developing brain and the cell types directly. In this study, we used neural progenitor cells (NPCs) derived from ASD-hiPSCs as well as from neurotypical controls to examine the effects of miR-92a-2-5p on ASD-NPCs proliferation and neuronal differentiation, and whether miR-92a-2-5p could interact with genetic risk factor, DLG3 for ASD. We observed that miR-92a-2-5p upregulated in ASD-NPCs results in decreased proliferation and neuronal differentiation. Inhibition of miR-92a-2-5p could promote proliferation and neuronal differentiation of ASD-NPCs. DLG3 was negatively regulated by miR-92a-2-5p in NPCs. Our results suggest that miR-92a-2-5p is a strong risk factor for ASD and potentially contributes to neuropsychiatric disorders.

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