1. Asbury K, Toseeb U. A longitudinal study of the mental health of autistic children and adolescents and their parents during COVID-19: Part 2, qualitative findings. Autism : the international journal of research and practice. 2022: 13623613221086997.

We know that autistic children and young people, and their caregivers, are at increased risk of mental ill health. We asked whether the first 6 months of COVID-19 exacerbated that risk, and whether the implications were different for autistic pupils and their caregivers, than for those with other special educational needs and difficulties. In a linked paper, we found that caregivers of autistic pupils reported higher levels of depression and anxiety symptoms in their children than parents of children with other special educational needs and difficulties (Toseeb & Asbury, 2022). For pupils with other special educational needs and difficulties, their parent-reported anxiety symptoms eased over time while remaining high throughout for autistic pupils. There were no differences in mental health and wellbeing between caregivers of autistic pupils and those with other special educational needs and difficulties. Here, we used parents’ written descriptions of their own and their child’s mental health during the first 6 months of COVID-19 to explore these linked findings in greater depth. We identified strong evidence of worry and distress for all, but most prominently autistic children and young people. Our finding that worry and distress declined over time for pupils with other special educational needs and difficulties, but not for autistic pupils, was supported and we observed a few differences between caregivers. We also found evidence of wellbeing throughout the sample, and examples of some (mainly autistic) pupils benefitting from a reduction in demands (e.g. going to school). This has implications for our understanding of the school experience for autistic pupils. Findings suggest that the mental health of autistic children and young people may have been disproportionately affected during the first 6 months of COVID-19 and that careful consideration of optimal support, from both health and education perspectives, is vital.

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2. Bolbocean C, Rhidenour KB, McCormack M, Suter B, Holder JL. COVID-19 Induced Environments, Health-Related Quality of Life Outcomes and Problematic Behaviors: Evidence from Children with Syndromic Autism Spectrum Disorders. Journal of autism and developmental disorders. 2022.

Between July 2020 and January 2021, 230 principal caregivers completed a questionnaire to measure proxy-assessed health-related quality of life outcomes (HRQoL), behavioral outcomes in children with syndromic autism spectrum disorders and COVID-19 induced changes to lifestyle and environments. HRQoL and behavioral outcomes reported earlier during the pandemic were generally worse compared to those reported later. COVID-19 induced reduction to a caregiver’s mental health appointments, and hours spent watching TV were associated with decreases in HRQoL and increased the likelihood of problematic behaviors. Increasing time outdoors and time away from digital devices were positively associated with HRQoL and behaviors and might protect children from COVID-19 induced restrictions.

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3. Cameron LA, Tonge BJ, Howlin P, Einfeld SL, Stancliffe RJ, Gray KM. Social and community inclusion outcomes for adults with autism with and without intellectual disability in Australia. Journal of intellectual disability research : JIDR. 2022.

BACKGROUND: Research suggests that adults with autism tend to have poor outcomes. Outcomes have mostly been defined using summary outcome ratings, with less focus on specific outcomes such as employment, living situation, social satisfaction, loneliness, and friendships. This study aimed to explore social and community outcomes, including employment, education, living arrangements, friendships, and social satisfaction, for autistic adults with and without intellectual disability. METHOD: Eighty-four adults with autism (mean age 34.2 years, SD = 4.5; 67% with co-occurring intellectual disability), recruited as children and adolescents, participated in the current study. Adult social and community inclusion outcomes were explored through interview and questionnaire, both parent/carer-report and self-report. RESULTS: Participants predominantly lived with family or in supported accommodation, did not pursue higher education, and mostly participated in day activity programmes. Most had limited friendships as reported by parents/carers; however, self-report data (n = 28) indicated that adults were largely satisfied with their social relationships. Overall outcome was poor for 57%, and good/very good for 34%. Adults with intellectual disability generally had poorer outcomes. CONCLUSION: Autistic adults encountered numerous difficulties in leading an independent life. Adults with co-occurring intellectual disability were most likely to experience difficulties; however, outcomes ranged from poor to very good for adults without intellectual disability. Discrepancies in parent/carer-report and self-reported experiences of friendships highlight the need to ensure individual experiences are captured in addition to parent/carer-report. Appropriate resources and programmes are crucial for adults with autism to support them to have the choice to live independently.

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4. Chen X, Yao T, Cai J, Fu X, Li H, Wu J. Systemic inflammatory regulators and 7 major psychiatric disorders: A two-sample Mendelian randomization study. Progress in neuro-psychopharmacology & biological psychiatry. 2022; 116: 110534.

Systemic inflammation has been thought to play a considerable part in psychiatric disorders. However, the causal relationships between systemic inflammation and psychiatric disorders and the directions of the causal effects remain elusive and need further investigation. By leveraging the summary statistics of genome-wide association studies, the standard inverse variance weighted method was applied to assess the causal associations among 41 systemic inflammatory regulators and 7 major psychiatric disorders, including attention-deficit/hyperactivity disorder (ADHD), anorexia nervosa (AN), autism spectrum disorder (ASD), bipolar disorder (BIP), major depression disorder (MDD), obsessive-compulsive disorder (OCD), and schizophrenia (SCZ), within a two-sample bidirectional Mendelian randomization analysis. Additionally, the weighted median test and the Mendelian randomization pleiotropy residual sum and outlier test were conducted for sensitivity analyses. The results suggested a total of 15 unique systemic inflammatory regulators might be causally associated with disease risk, including 2 for ADHD, 4 for AN, 2 for ASD, 2 for MDD, 2 for OCD, and 5 for SCZ. Among them, the genetically predicted concentration of basic fibroblast growth factor was significantly related to AN at the Bonferroni-corrected threshold (Odds ratio = 0.403, 95% confidence interval = (0.261, 0.622), P = 4.03 × 10(-5)). Furthermore, the concentrations of 9 systemic inflammatory regulators might be influenced by neuropsychiatric disorders, including 2 by ADHD, 2 by BIP, 3 by MDD, and 2 by SCZ, and the causal effects of ASD, AN, and OCD need to be further assessed when more significant genetic variants are identified in the future. Overall, this study provides additional insights into the relationships between systemic inflammation and psychiatric disorders and may provide new clues regarding the aetiology, diagnosis and treatment of psychiatric disorders.

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5. Davis SA, Howard K, Ellis AR, Jonas DE, Carey TS, Morrissey JP, Thomas KC. Feasibility of a best-worst scaling exercise to set priorities for autism research. Health expectations : an international journal of public participation in health care and health policy. 2022.

BACKGROUND: The preferences of autism stakeholders regarding the top priorities for future autism research are largely unknown. OBJECTIVE: This study had two objectives: First, to examine what autism stakeholders think new research investments should be and the attributes of investment that they consider important, and second, to explore the feasibility, acceptability and outcomes of two prioritization exercises among autism stakeholders regarding their priorities for future research in autism. DESIGN: This was a prospective stakeholder-engaged iterative study consisting of best-worst scaling (BWS) and direct prioritization exercise. SETTING AND PARTICIPANTS: A national snowball sample of 219 stakeholders was included: adults with autism, caregivers, service providers and researchers. MAIN OUTCOME MEASURES: The main outcomes measures were attributes that participants value in future research investments, and priority research investments for future research. RESULTS: Two hundred and nineteen participants completed the exercises, of whom 11% were adults with autism, 58% were parents/family members, 37% were service providers and 21% were researchers. Among stakeholders, the BWS exercises were easier to understand than the direct prioritization, less frequently skipped and yielded more consistent results. The proportion of children with autism affected by the research was the most important attribute for all types of stakeholders. The top three priorities among future research investments were (1) evidence on which child, family and intervention characteristics lead to the best/worst outcomes; (2) evidence on how changes in one area of a child’s life are related to changes in other areas; and (3) evidence on dietary interventions. Priorities were similar for all stakeholder types. CONCLUSIONS: The values and priorities examined here provide a road map for investigators and funders to pursue autism research that matters to stakeholders. PATIENT OR PUBLIC CONTRIBUTION: Stakeholders completed a BWS and direct prioritization exercise to inform us about their priorities for future autism research.

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6. Di Rezze B, Gentles SJ, Hidecker MJC, Zwaigenbaum L, Rosenbaum P, Duku E, Georgiades S, Roncadin C, Fang H, Tajik-Parvinchi D, Viveiros H. Adaptation, Content Validity and Reliability of the Autism Classification System of Functioning for Social Communication: From Toddlerhood to Adolescent-Aged Children with Autism. Journal of autism and developmental disorders. 2022.

The Autism Classification System of Functioning: Social Communication (ACSF) describes social communication functioning levels. First developed for preschoolers with ASD, this study tests an expanded age range (2-to-18 years). The ACFS rates the child’s typical and best (i.e., capacity) performance. Qualitative methods tested parent and clinician perspectives of the ACSF age expansion using content analysis. The ACSF was used twice by parents and professionals for the same child/youth. Reliabilities were assessed using weighted kappa. Content validity supported the ACSF’s applicability, clarity, and usability. The ACSF adaptations did not change its original construct. Reliability were calculated from 90 parent and professional Time-1 and Time-2 ratings for children/youth (2.1-15.6 years). Results showed good-to-very good intra-rater agreement (typical) and good inter-rater agreement (capacity).

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7. Dollion N, Grandgeorge M, Saint-Amour D, Hosein Poitras Loewen A, François N, Fontaine NMG, Champagne N, Plusquellec P. Emotion Facial Processing in Children With Autism Spectrum Disorder: A Pilot Study of the Impact of Service Dogs. Frontiers in psychology. 2022; 13: 869452.

Processing and recognizing facial expressions are key factors in human social interaction. Past research suggests that individuals with autism spectrum disorder (ASD) present difficulties to decode facial expressions. Those difficulties are notably attributed to altered strategies in the visual scanning of expressive faces. Numerous studies have demonstrated the multiple benefits of exposure to pet dogs and service dogs on the interaction skills and psychosocial development of children with ASD. However, no study has investigated if those benefits also extend to the processing of facial expressions. The aim of this study was to investigate if having a service dog had an influence on facial expression processing skills of children with ASD. Two groups of 15 children with ASD, with and without a service dog, were compared using a facial expression recognition computer task while their ocular movements were measured using an eye-tracker. While the two groups did not differ in their accuracy and reaction time, results highlighted that children with ASD owning a service dog directed less attention toward areas that were not relevant to facial expression processing. They also displayed a more differentiated scanning of relevant facial features according to the displayed emotion (i.e., they spent more time on the mouth for joy than for anger, and vice versa for the eyes area). Results from the present study suggest that having a service dog and interacting with it on a daily basis may promote the development of specific visual exploration strategies for the processing of human faces.

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8. Donnard E, Shu H, Garber M. Single cell transcriptomics reveals dysregulated cellular and molecular networks in a fragile X syndrome model. PLoS genetics. 2022; 18(6): e1010221.

Despite advances in understanding the pathophysiology of Fragile X syndrome (FXS), its molecular basis is still poorly understood. Whole brain tissue expression profiles have proved surprisingly uninformative, therefore we applied single cell RNA sequencing to profile an FMRP deficient mouse model with higher resolution. We found that the absence of FMRP results in highly cell type specific gene expression changes that are strongest among specific neuronal types, where FMRP-bound mRNAs were prominently downregulated. Metabolic pathways including translation and respiration are significantly upregulated across most cell types with the notable exception of excitatory neurons. These effects point to a potential difference in the activity of mTOR pathways, and together with other dysregulated pathways, suggest an excitatory-inhibitory imbalance in the Fmr1-knock out cortex that is exacerbated by astrocytes. Our data demonstrate that FMRP loss affects abundance of key cellular communication genes that potentially affect neuronal synapses and provide a resource for interrogating the biological basis of this disorder.

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9. Elnahas EM, Abuelezz SA, Mohamad MI, Nabil MM, Abdelraouf SM, Bahaa N, Hassan GAM, Aboul-Fotouh S. Novel role of peroxisome proliferator activated receptor-α in valproic acid rat model of autism: Mechanistic study of risperidone and metformin monotherapy versus combination. Progress in neuro-psychopharmacology & biological psychiatry. 2022; 116: 110522.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder of heterogenous etiology exhibiting a challenge in understanding its exact neuro-pathophysiology. Recently, peroxisome proliferator activated receptor (PPAR)-α activation was found to play a fundamental role in neuroprotection and improving autistic-like-behaviors in experimental animal models of ASD through alleviating neuroinflammation, oxidative-stress, astrocyte reactivity, tauopathy in addition to its favorable role in metabolic regulation, thus attracting attention as a possible target in treatment of ASD. This study aimed to investigate the role of PPAR-α, astrocytic dysfunction and tauopathy in ASD and detect the possible neuroprotective effects of metformin (MET), through PPAR-α activation, and risperidone (RIS) either monotherapy or in combination in alleviating autistic-like-changes at behavioral and neurobiological levels in male Wistar rats. Pregnant female Wistar rats received valproic-acid (VPA) to induce autistic-like-behavioral and neurobiological alterations in their offspring. Chronic intra-peritoneal MET (100 mg/kg/day) and RIS (1 mg/kg/day) either monotherapy or in combination started from postnatal day (PND) 24 till PND61 (38 days). Prenatal VPA exposure simulated the autistic core behaviors associated with neurochemical and histopathological neurodevelopmental degenerative changes. Both MET and RIS either monotherapy or in combination were able to reverse these changes. The effect of MET was comparable to RIS. Moreover, MET was able to alleviate the RIS induced weight gain and improve cognitive functions highlighting its promising adjunctive role in alleviating ASD pathophysiology. Our study highlighted the favorable effects of MET and RIS both in monotherapy and in combination in alleviating the autistic-like-changes and proposed PPAR-α activation along with restoring astrocytes homeostasis as promising targets in novel therapeutic strategies in ASD.

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10. Frawley P, Wilson NJ, David J, O’Shea A, Areskoug Josefsson K. Access to Sexual Health Services and Support for People with Intellectual and Developmental Disabilities: an Australian Cross-sector Survey. Sexuality research & social policy : journal of NSRC : SR & SP. 2022: 1-9.

INTRODUCTION: People with intellectual and developmental disabilities under the United Nations Convention on the Rights of Persons with Disabilities (UNCRPD) have the right to access sexual health services including information, education, and support. Little is known about the capacity of sexual health professionals to provide these services. METHODS: Using an observational research design, this study utilised a descriptive survey tool (PASH-Ext) that also encompassed a standardised measure, with a cross-sectional purposive sample of 52 Australian sexual health professionals. Data was collected in 2020. RESULTS: Just over half of the participants reported having received training in their preservice education to work with people with intellectual and developmental disabilities, of these 60% held the view that people with intellectual and developmental disabilities would not feel embarrassed receiving sexual health information and support. CONCLUSION: The study found that training is both important to the professionals’ preparedness to work with people with intellectual and developmental disabilities, and that these professionals advocate for the continuation of this training in pre-service courses and additional training in post service education for sexual health workers. POLICY IMPLICATIONS: To progressively realise Article 25 of the UNCRPD signatory, countries need to ensure sexual health services are accessible to people with intellectual and developmental disabilities. This study recommends that sexual health policy addresses equity of access for people with intellectual and developmental disability by ensuring all staff are prepared and supported to provide these services.

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11. Grant JE, Chamberlain SR. Autistic traits in trichotillomania. Brain and behavior. 2022: e2663.

INTRODUCTION: Although many variables have been examined as potentially contributing to the manifestation of trichotillomania (TTM), little research has focused on problems in social interactions. Hair pulling has many similarities to the stereotypies seen in autism spectrum disorders (ASD), and thus the present study examined autistic traits in adults with trichotillomania. METHODS: Fifty nontreatment-seeking adults with DSM-5 TTM were recruited. Participants completed standard diagnostic interviews, basic demographic information, and symptom inventories about TTM. Autistic traits were quantified using the Brief Autism- Spectrum Quotient (AQ-10) which screens for autistic traits. RESULTS: The sample comprised 50 participants, mean (standard deviation) age of 30.2 (5.6) years, 10% being male, 86% female, and 4% nonbinary. Eight of the participants had a history of major depressive disorder and six had a history of an anxiety disorder. No one had current or lifetime obsessive-compulsive disorder. The mean AQ10 score was 3.5 (2.0), with 14.6% scoring 6 or greater. Autism scores correlated significantly only with family dysfunction and not with symptom severity or impulsivity. CONCLUSIONS: This study examined autistic traits in a community-based sample of adults with TTM and found elevated rates of probable ASD (based on a self-report screening tool) among those with TTM. These results highlight the need to carefully screen for autistic traits in those with TTM. To what extent these traits may influence response to treatment, however, remains unclear.

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12. Gray HL, Pang T, Agazzi H, Shaffer-Hudkins E, Kim E, Miltenberger RG, Waters KA, Jimenez C, Harris M, Stern M. A nutrition education intervention to improve eating behaviors of children with autism spectrum disorder: Study protocol for a pilot randomized controlled trial. Contemporary clinical trials. 2022: 106814.

Autism spectrum disorder (ASD) is a developmental disorder that affects communication and social behaviors. Children with ASD often experience mealtime behavior challenges and selective eating behaviors. They also tend to consume fewer fruits and vegetables and more high-energy dense foods, compared to neurotypical peers. A nutrition intervention was designed to prevent the development of feeding disorders and the long-term negative health impacts associated with poor dietary intake. This randomized controlled trial will evaluate the feasibility and preliminary efficacy of the nutrition education intervention for children with ASD and their parents through the Early Intervention (EI) services. We will recruit EI providers and parent-child dyads (n = 48) from EI programs, and randomly assign them into Autism Eats intervention (n = 24) or enhance usual care (EUC) comparison group (n = 24). The Autism Eats is 10 weekly sessions delivered individually as part of EI, while the EUC group will receive only 1 nutrition education session and then weekly parent handouts. The Autism Eats integrates ASD-specific feeding strategies and behaviorally-focused intervention strategies such as goal setting. Feasibility indicators include reach/participation, attrition, completion, fidelity, compatibility, and qualitative participant feedback. Outcome measures include dietary intakes and mealtime behaviors of children with ASD using 3-day food records and a validated questionnaire, the Brief Autism Mealtime Behavior Inventory (BAMBI). We will examine whether there are differences in children’s food intakes, variety, diet quality, and mealtime behaviors between Autism Eats and EUC groups at post-intervention and 5-month follow-up assessment. This study will provide critical data to inform a full-scale randomized controlled trial.

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13. Huang Y, Cheng CH, Law WW, Wong T, Leung OK, So WC. Gesture Development in Chinese-Speaking Preschool Children With Autism and the Roles of Parental Input and Child-Based Factors. Journal of speech, language, and hearing research : JSLHR. 2022; 65(6): 2309-26.

PURPOSE: Children with autism are found to have delayed and heterogeneous gesture abilities. It is important to understand the growth of gesture abilities and the underlying factors affecting its growth. Addressing these issues can help to design effective intervention programs. METHOD: Thirty-five Chinese-speaking preschoolers with autism spectrum disorder (M (age) = 4.89 years, SD = 0.91; four girls) participated in four play sessions with their parents over 9 months. Their child-based factors including autism severity, intellectual functioning, and expressive language abilities were assessed. The gestures (deictic, iconic, and conventional) of the children and their parents were coded. Growth curve analyses were conducted to examine individual growth trajectories and the roles of child-based factors and parental input in shaping the children’s gesture development. RESULTS: Child-based factors and parental input predicted gesture development differently. Parents’ gestures positively predicted their children’s gestures of the same type. Autism severity negatively predicted iconic and conventional gestures. Overall growth was found in deictic rather than iconic and conventional gestures. Subgroup variation was also found. Specifically, children with better expressive language ability showed a decrease in deictic gestures. An increase in iconic and conventional gestures was found in children with more severe autism and those with poorer expressive language ability and intellectual functioning, respectively. CONCLUSIONS: Different types of gestures may have different growth trajectories and be predicted by different child-based factors. Particular attention should be given to children who never produced iconic gestures, which is more challenging and may not develop over a short period, and hence require direct instruction.

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14. Kandeel M, El-Deeb W. The Application of Natural Camel Milk Products to Treat Autism-Spectrum Disorders: Risk Assessment and Meta-Analysis of Randomized Clinical Trials. Bioinorganic chemistry and applications. 2022; 2022: 6422208.

Camel milk is better tolerated than the milk of other ruminants, potentially expanding its consumer appeal. It also contains essential vitamins, minerals, and immunoglobulins, providing the milk with antioxidant, antibacterial, and antiviral properties. These properties may reduce oxidative stress in camel milk consumers, ameliorating many conditions, including those of the CNS, such as autism spectrum disorders (ASDs). We performed a meta-analysis of randomized controlled trials (RCTs) in which camel milk administration (boiled or raw) was examined as an ASD treatment intervention. The primary endpoint was participants’ total autism scores, determined using the Childhood Autistic Responsiveness Scale (CARS). A comparison of the responsiveness in these ASD intervention groups yielded a mean difference (MD) of 1.99 (0.89, 3.08) in those consuming boiled camel milk, MD = 2.77 (1.92, 3.61) in raw camel milk consumers, and MD = -1.02 (-0.10, 2.13) in cow milk consumers. Heterogeneity was notably low among the examined studies. Treatment of ASD with raw and boiled camel milk resulted in significantly lower CARS scores than the placebo. Our findings support the development of larger, more populated RCTs to establish camel milk’s overall potential as a therapeutic intervention for CNS disorders.

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15. Lau JCY, Patel S, Kang X, Nayar K, Martin GE, Choy J, Wong PCM, Losh M. Cross-linguistic patterns of speech prosodic differences in autism: A machine learning study. PloS one. 2022; 17(6): e0269637.

Differences in speech prosody are a widely observed feature of Autism Spectrum Disorder (ASD). However, it is unclear how prosodic differences in ASD manifest across different languages that demonstrate cross-linguistic variability in prosody. Using a supervised machine-learning analytic approach, we examined acoustic features relevant to rhythmic and intonational aspects of prosody derived from narrative samples elicited in English and Cantonese, two typologically and prosodically distinct languages. Our models revealed successful classification of ASD diagnosis using rhythm-relative features within and across both languages. Classification with intonation-relevant features was significant for English but not Cantonese. Results highlight differences in rhythm as a key prosodic feature impacted in ASD, and also demonstrate important variability in other prosodic properties that appear to be modulated by language-specific differences, such as intonation.

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16. Lee J, Lee TS, Lee S, Jang J, Yoo S, Choi Y, Park YR. Development and Application of a Metaverse-Based Social Skills Training Program for Children With Autism Spectrum Disorder to Improve Social Interaction: Protocol for a Randomized Controlled Trial. JMIR research protocols. 2022; 11(6): e35960.

BACKGROUND: Autism spectrum disorder (ASD) is characterized by abnormalities in social communication and limited and repetitive behavioral patterns. Children with ASD who lack social communication skills will eventually not interact with others and will lack peer relationships when compared to ordinary people. Thus, it is necessary to develop a program to improve social communication abilities using digital technology in people with ASD. OBJECTIVE: We intend to develop and apply a metaverse-based child social skills training program aimed at improving the social interaction abilities of children with ASD aged 7-12 years. We plan to compare and analyze the biometric information collected through wearable devices when applying the metaverse-based social skills training program to evaluate emotional changes in children with ASD in stressful situations. METHODS: This parallel randomized controlled study will be conducted on children aged 7-12 years diagnosed with ASD. A metaverse-based social skills training program using digital technology will be administered to children who voluntarily wish to participate in the research with consent from their legal guardians. The treatment group will participate in the metaverse-based social skills training program developed by this research team once a week for 60 minutes per session for 4 weeks. The control group will not intervene during the experiment. The treatment group will use wearable devices during the experiment to collect real-time biometric information. RESULTS: The study is expected to recruit and enroll participants in March 2022. After registering the participants, the study will be conducted from March 2022 to May 2022. This research will be jointly conducted by Yonsei University and Dobrain Co Ltd. Children participating in the program will use the internet-based platform. CONCLUSIONS: The metaverse-based Program for the Education and Enrichment of Relational Skills (PEERS) will be effective in improving the social skills of children with ASD, similar to the offline PEERS program. The metaverse-based PEERS program offers excellent accessibility and is inexpensive because it can be administered at home; thus, it is expected to be effective in many children with ASD. If a method can be applied to detect children’s emotional changes early using biometric information collected through wearable devices, then emotional changes such as anxiety and anger can be alleviated in advance, thus reducing issues in children with ASD. TRIAL REGISTRATION: Clinical Research Information Service KCT0006859; https://tinyurl.com/4r3k7cmj. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/35960.

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17. Lundy KM, Wenzbauer MA, Illapperuma CR, Fischer AJ, Feng MJ, Jensen RL, Maldonado AF, Mathis SN, Meservy JO, Heller HN. Evaluating the Acceptability and Social Validity of a Caregiver-Led Technology-Based Menstrual Hygiene Management Intervention for Youth on the Autism Spectrum. Advances in neurodevelopmental disorders. 2022: 1-16.

OBJECTIVES: Menstrual hygiene management (MHM) is a critical area of daily living skills for neurodiverse menstruators in which few evidence-based interventions exist. This study evaluated the acceptability and social validity of a caregiver-mediated intervention for youth on the autism spectrum utilizing behavior skills training, animated video modeling, task analysis, and telehealth services to improve changing a menstrual pad. METHODS: The consultant recruited three youth and caregiver dyads to test the intervention and collect acceptability and social validity assessments. Materials varied based on the phase of the study; however, a typical trial required data collection sheets, youth’s underwear, a menstrual pad, and, during intervention, the video model and hardware technology. A multiple baseline design across participants and reversal design were used to demonstrate experimental effects. Due to the sensitive nature of the study, independence and accuracy data were collected by caregivers and analyzed later by the consultant through visual analysis. RESULTS: Overall, youth participants improved their percentage of independent and accurate steps of changing a menstrual pad. Furthermore, caregivers reported moderate to high levels of acceptability of the telehealth service delivery and animated video modeling, as well as the overall MHM training program measured by the Technology Acceptability Model-Fast Form (FF-TAM) and the Behavior Intervention Rating Scale (BIRS), respectively. Youth reported high levels of acceptability of the MHM training program as measured by the Child Intervention Rating Profile (CIRP). CONCLUSIONS: Results suggest that a technology-based, caregiver-mediated MHM intervention for neurodiverse youth would be considered acceptable and socially valid by caregiver and youth participants. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s41252-022-00261-x.

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18. Neale M, Landers E, Sajjadi NB, Mazur-Mosiewicz A, Hartwell M. The impact of COVID-19 on autism research: A cross-sectional analysis of discontinued or suspended clinical trials. Autism research : official journal of the International Society for Autism Research. 2022.

Due to uncertainties associated with the COVID-19 public health crisis, several clinical trials had to be withdrawn or postponed. Our investigation aimed to assess the rate of discontinuation of clinical trials focusing on Autism Spectrum Disorder. Of the 197 registered trials included in our systematic review, 15 (7.6%) were discontinued, with nearly half of these explicitly citing COVID-19 as their reason for discontinuation. Pharmacological trials were six times more likely to be discontinued during the pandemic than non-pharmacological studies. The difference between the likelihood of discontinuation was statistically significant (OR: 6.13; 95% CI: 1.22-30.71). There was no evidence of association between funding source and reasons for discontinuation. Limitations, along with implications for future trials are discussed. LAY SUMMARY: We investigated the impact of the COVID-19 pandemic on the discontinuation rate of autism clinical trials. We found that drug trials were six times more likely to be discontinued during the pandemic compared to behavioral, diagnostic, and nutritional trials. The overall discontinuation rate was notably lower in autism clinical trials than in other areas of medical research. We recommend an examination of the methodology of the continued autism trials to assess their applicability in other fields.

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19. Patel SP, Winston M, Guilfoyle J, Nicol T, Martin GE, Nayar K, Kraus N, Losh M. Neural Processing of Speech Sounds in ASD and First-Degree Relatives. Journal of autism and developmental disorders. 2022.

Efficient neural encoding of sound plays a critical role in speech and language, and when impaired, may have reverberating effects on communication skills. This study investigated disruptions to neural processing of temporal and spectral properties of speech in individuals with ASD and their parents and found evidence of inefficient temporal encoding of speech sounds in both groups. The ASD group further demonstrated less robust neural representation of spectral properties of speech sounds. Associations between neural processing of speech sounds and language-related abilities were evident in both groups. Parent-child associations were also detected in neural pitch processing. Together, results suggest that atypical neural processing of speech sounds is a heritable ingredient contributing to the ASD language phenotype.

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20. Sandham V, Hill AE, Hinchliffe F. The perspectives of Australian speech pathologists in providing evidence-based practices to children with autism. International journal of language & communication disorders. 2022.

BACKGROUND: Bridging the research-practice gap in autism communication services is an identified priority for improving services. Limited research has investigated the views of practitioners regarding this research-practice gap. Investigation of the barriers experienced and facilitators used in clinical practice may assist to identify scalable and sustainable strategies to increase use of evidence-based practices (EBPs) in the delivery of communication services to children with autism. AIMS: To elucidate how Australian speech pathologists engage with external evidence and how communication outcomes are measured to demonstrate the effectiveness of service provision to children with autism. METHODS & PROCEDURES: A total of 15 Australian speech pathologists, with experience ranging from less than 1 to more than 16 years, participated in three focus groups. Data from focus groups were analysed using reflexive thematic analysis within an interpretive phenomenological paradigm. OUTCOMES & RESULTS: Seven themes were identified. Participants reported on the diversity of individuals with autism, their experiences of resource constraints, seeking collegial advice and accessing a diverse range of evidence sources, the role of clinical expertise in translating evidence to practice, the barriers experienced in outcome measurement and use of stakeholders to facilitate data collection to demonstrate outcomes. CONCLUSIONS & IMPLICATIONS: Individual practitioner skill and beliefs are facilitators to translating research to practice. Interventions to improve clinician use of EBP should address the skill and belief barriers, aiming to increase a clinician’s EBP self-efficacy and increasing their expectation that investing in EBP activities will result in improved services for children with autism. Modelling and reflective practice are two strategies that may have an application as interventions to improve EBP use in clinical practice. WHAT THIS PAPER ADDS: What is already known on the subject Constrained resources, especially lack of time, is a barrier to routine uptake of best available evidence in clinical services for children with autism. What this paper adds to existing knowledge In this study, the perception that speech pathologists lacked time to engage in EBP activities was linked with the speech pathologist’s research skill and their beliefs about the benefits of engaging in EBP. Speech Pathologists reported using a range of information sources, as « evidence » but also reported feeling uneasy when using evidence of disputable, or unknown quality. Accessibility and relevance to their individual client were highly prioritised in selecting evidence. Clinical expertise was an essential skill for research translation. What are the potential or actual clinical implications of this work? Interventions which target professional beliefs and research translation capability are requisite for motivating speech pathologists to improve their use of EBP. Modelling of EBP use, individual reflective practice and collegial active listening to facilitate reflective practice, might be useful strategies which target beliefs and capability of individual speech pathologists; thereby changing their EBP use.

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21. Smith M, Arthur B, Cikowski J, Holt C, Gonzalez S, Fisher NM, Vermudez SAD, Lindsley CW, Niswender CM, Gogliotti RG. Clinical and Preclinical Evidence for M(1) Muscarinic Acetylcholine Receptor Potentiation as a Therapeutic Approach for Rett Syndrome. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 2022.

Rett syndrome (RTT) is a neurodevelopmental disorder that is characterized by developmental regression, loss of communicative ability, stereotyped hand wringing, cognitive impairment, and central apneas, among many other symptoms. RTT is caused by loss-of-function mutations in a methyl-reader known as methyl-CpG-binding protein 2 (MeCP2), a protein that links epigenetic changes on DNA to larger chromatin structure. Historically, target identification for RTT has relied heavily on Mecp2 knockout mice; however, we recently adopted the alternative approach of performing transcriptional profiling in autopsy samples from RTT patients. Through this mechanism, we identified muscarinic acetylcholine receptors (mAChRs) as potential therapeutic targets. Here, we characterized a cohort of 40 temporal cortex samples from individuals with RTT and quantified significantly decreased levels of the M(1), M(2), M(3), and M(5) mAChRs subtypes relative to neurotypical controls. Of these four subtypes, M(1) expression demonstrated a linear relationship with MeCP2 expression, such that M(1) levels were only diminished in contexts where MeCP2 was also significantly decreased. Further, we show that M(1) potentiation with the positive allosteric modulator (PAM) VU0453595 (VU595) rescued social preference, spatial memory, and associative memory deficits, as well as decreased apneas in Mecp2(+/-) mice. VU595’s efficacy on apneas in Mecp2(+/-) mice was mediated by the facilitation of the transition from inspiration to expiration. Molecular analysis correlated rescue with normalized global gene expression patterns in the brainstem and hippocampus, as well as increased Gsk3β inhibition and NMDA receptor trafficking. Together, these data suggest that M(1) PAMs could represent a new class of RTT therapeutics.

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22. Toseeb U, Asbury K. A longitudinal study of the mental health of autistic children and adolescents and their parents during COVID-19: Part 1, quantitative findings. Autism : the international journal of research and practice. 2022: 13623613221082715.

Autistic children and adolescents, and their parents/carers, tend to experience more symptoms of anxiety and depression compared to those with other special educational needs and disabilities. The rapid change in society as a result of the COVID-19 pandemic is likely to have disproportionately affected autistic young people and their parents/carers. We investigated how the mental health of autistic young people, and their parents/carers, developed during the first lockdown in the United Kingdom and how it changed once schools fully reopened for face-to-face teaching approximately 6 months later. Parents/carers completed online standardised questionnaires about their own and their child’s mental health at four time points between March 2020 and October 2020. We found that, throughout this period, autistic young people experienced more symptoms of anxiety and depression compared to those with other special educational needs and disabilities. Anxiety levels decreased as lockdown progressed and schools reopened for face-to-face teaching but only for those with other special educational needs and disabilities. For autistic young people, both anxiety and depression symptoms remained high throughout. There were no differences in the mental health of parents/carers of autistic children compared to those with other special educational needs and disabilities. These findings suggest that the mental health of autistic children and adolescents is likely to have been disproportionately affected during and after the first lockdown in the United Kingdom. In the second part of this article (Asbury & Toseeb, 2022), we attempt to explain these trends using qualitative data provided by parents during the same period.

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23. van Noorden LE, Sigafoos J, Waddington HL. Evaluating a Two-Tiered Parent Coaching Intervention for Young Autistic Children Using the Early Start Denver Model. Advances in neurodevelopmental disorders. 2022: 1-21.

OBJECTIVES: Early intervention can improve the outcomes of young autistic children, and parents may be well placed to deliver these interventions. The Early Start Denver Model (ESDM) is a naturalistic developmental behavioral intervention that can be implemented by parents with their own children (P-ESDM). This study evaluated a two-tiered P-ESDM intervention that used a group parent coaching program, and a 1:1 parent coaching program. We evaluated changes in parent use of the ESDM and parent stress, as well as child engagement, communication, and imitation. METHODS: Seven autistic or probably autistic children (< 60 months old) and their parents participated. A multiple-baseline design was used to compare individual changes between Baseline 1, Group Coaching (Tier 1), Baseline 2, and 1:1 Coaching (Tier 2). Parent and child behaviors were analyzed from weekly videos and graphed. Parenting stress was measured. RESULTS: All parents improved in their use of ESDM strategies after the Tier 1 intervention. Changes in parent fidelity during Tier 2 were mixed, but all parents maintained higher than baseline levels of fidelity. Six parents demonstrated above 75% ESDM fidelity in at least one session. There were positive changes in parent stress levels pre- post-intervention. Positive results were found for most children's levels of engagement, imitation, and communication. There were significant positive relationships between parent fidelity and both child engagement and child functional utterances. CONCLUSIONS: Group P-ESDM is a promising approach for improving parent fidelity and some child outcomes. Future randomized and controlled studies of group P-ESDM, using standardized outcome measures, are warranted. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s41252-022-00264-8.

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24. Wigham S, Ingham B, Le Couteur A, Wilson C, Ensum I, Parr JR. Consensus statements on optimal adult post-autism diagnosis support and services: Delphi process following a UK survey of autistic adults, relatives and clinicians. Autism : the international journal of research and practice. 2022: 13623613221097502.

Research has identified types of support helpful to autistic people, for example, physical and mental health interventions, psycho-education, peer support, developing positive identities and affiliation with social groups. However, accessing suitable post-autism diagnosis support and services is extremely difficult. We asked autistic adults, relatives and clinicians about their experiences of receiving and delivering post-autism diagnosis support/services. In Stage 1, 343 autistic adults and 45 relatives completed a survey. They answered questions about their experiences of UK autism post-diagnosis support/services for adults within 12 months after receiving a diagnosis. Thirty-five clinicians completed a similar survey. Just over half of adults and relatives said there was a follow-up appointment or discussion about support after diagnosis. Fewer than 40% received any support/services in 12 months after diagnosis. We used information from the surveys to create 11 statements describing characteristics of appropriate adult post-autism diagnosis support/services. In Stage 2, we asked clinicians for their views on the statements – they agreed with all of them. For example, those adults are offered an additional follow-up meeting after diagnosis and have access to mental and physical health services. We shared results with autistic adults, relatives and clinicians at two events. Some autistic adults, relatives and clinicians were positive about post-autism diagnosis support/services. However, they described many areas for improvement. The study findings can be used to define, develop and improve the types of adult post-diagnosis support services.

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25. Yates TM, Lain A, Campbell J, FitzPatrick DR, Simpson TI. Creation and evaluation of full-text literature-derived, feature-weighted disease models of genetically determined developmental disorders. Database : the journal of biological databases and curation. 2022; 2022.

There are >2500 different genetically determined developmental disorders (DD), which, as a group, show very high levels of both locus and allelic heterogeneity. This has led to the wide-spread use of evidence-based filtering of genome-wide sequence data as a diagnostic tool in DD. Determining whether the association of a filtered variant at a specific locus is a plausible explanation of the phenotype in the proband is crucial and commonly requires extensive manual literature review by both clinical scientists and clinicians. Access to a database of weighted clinical features extracted from rigorously curated literature would increase the efficiency of this process and facilitate the development of robust phenotypic similarity metrics. However, given the large and rapidly increasing volume of published information, conventional biocuration approaches are becoming impractical. Here, we present a scalable, automated method for the extraction of categorical phenotypic descriptors from the full-text literature. Papers identified through literature review were downloaded and parsed using the Cadmus custom retrieval package. Human Phenotype Ontology terms were extracted using MetaMap, with 76-84% precision and 65-73% recall. Mean terms per paper increased from 9 in title + abstract, to 68 using full text. We demonstrate that these literature-derived disease models plausibly reflect true disease expressivity more accurately than widely used manually curated models, through comparison with prospectively gathered data from the Deciphering Developmental Disorders study. The area under the curve for receiver operating characteristic (ROC) curves increased by 5-10% through the use of literature-derived models. This work shows that scalable automated literature curation increases performance and adds weight to the need for this strategy to be integrated into informatic variant analysis pipelines. Database URL: https://doi.org/10.1093/database/baac038.

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