1. Correction to: Advancing the Personalization of Assessment and Intervention in Autistic Adolescents and Young Adults by Targeting Self-Determination and Executive Processes by Shogren, et al. Autism Adulthood 2021;3(4):289-299; doi: 10.1089/aut.2021.0010. Autism in adulthood : challenges and management. 2022; 4(2): 177.

[This corrects the article DOI: 10.1089/aut.2021.0010.].

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2. Autism. Journal of the Canadian Academy of Child and Adolescent Psychiatry = Journal de l’Academie canadienne de psychiatrie de l’enfant et de l’adolescent. 2023; 32(1): 53-5.

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3. Abubakare O. An Unexpected Autistic. Autism in adulthood : challenges and management. 2022; 4(4): 268-70.

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4. Armin JS, Williamson HJ, Rothers J, Lee MS, Baldwin JA. An Adapted Cancer Screening Education Program for Native American Women With Intellectual and Developmental Disabilities and Their Caregivers: Protocol for Feasibility and Acceptability Testing. JMIR research protocols. 2023; 12: e37801.

BACKGROUND: Women with intellectual and developmental disabilities (IDD) do not undergo breast and cervical cancer screening at the same rate as women without IDD. IDDs are diagnosed in childhood, are lifelong, and involve difficulties in adaptive behaviors and intellectual functioning. Native American women also experience disparities in breast and cervical cancer screenings. Despite known disparities, women with IDD are often not included in health promotion programs, and there is a need for evidence-based programming for those with intersectional identities, such as Native American women with IDD. OBJECTIVE: This study aims to assess the feasibility and acceptability of My Health My Choice (MHMC), an adaptation of the Women Be Healthy 2 program. There are 2 parts to the study: adaptation of the Women Be Healthy 2 program and feasibility and acceptability testing of MHMC. METHODS: Individuals aged over 18 years who identify as Native American females with IDD and their caregivers (N=30 women-caregiver dyads) are eligible for the study. Participants, who are affiliated with 2 partnering sites in Arizona (1 rural and 1 urban), complete pre- and postsurveys assessing knowledge, self-efficacy, and screening expectations before and immediately after completing the program. In addition, all participants complete brief satisfaction surveys after each of the 6 educational sessions. A subsample of Native American women with an IDD (n=12), caregivers (n=12), and community health educators (n=2) who participate in the MHMC program will provide semistructured qualitative input regarding the content, delivery, and cultural relevance of the program. RESULTS: The adaptation of the culturally responsive MHMC program was completed in August 2021. In November 2021, the project team began recruitment for feasibility and acceptability studies. Feasibility will be examined using participation metrics, and acceptability will be measured using satisfaction measures. Pre- and postmeasures in cancer screening knowledge, self-efficacy, and screening expectations will examine improvements among participants. CONCLUSIONS: The results of feasibility and acceptability testing of MHMC will guide future implementation studies of the program. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/37801.

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5. Belaïdouni Y, Diabira D, Brosset-Heckel M, Valsamides V, Graziano JC, Santos C, Menuet C, Wayman GA, Gaiarsa JL. Leptin antagonism improves Rett syndrome phenotype in symptomatic male Mecp2-null mice. bioRxiv : the preprint server for biology. 2023.

Rett syndrome (RTT) is a severe neurodevelopmental disorder that arise from de novo mutations in the X-linked gene MECP2 (methyl-CpG-binding protein 2). Circulating levels of the adipocyte hormone leptin are elevated in RTT patients and rodent models of the disease. Leptin targets a large number of brain structures and regulates a wide range of developmental and physiological functions which are altered in RTT. We hypothesized that elevated leptin levels might contribute to RTT pathogenesis. Accordingly, we show that pharmacological antagonism of leptin or genetic reduction of leptin production prevents the degradation of health status, weight loss and the progression of breathing and locomotor deficits. At the neuronal level, the anti-leptin strategies rescue the hippocampal excitatory/inhibitory imbalance and synaptic plasticity impairment. Targeting leptin might therefore represent a new approach for RTT treatment.

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6. Belcher HL. On Being Autistic and in Mental Health Crisis Care. Autism in adulthood : challenges and management. 2022; 4(3): 179-82.

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7. Bertamini G, Perzolli S, Bentenuto A, Paolizzi E, Furlanello C, Venuti P. Child-therapist interaction features impact Autism treatment response trajectories. Research in developmental disabilities. 2023; 135: 104452.

BACKGROUND: Identifying mechanisms of change in Autism treatment may help explain response variability and maximize efficacy. For this, the child-therapist interaction could have a key role as stressed by developmental models of intervention, but still remains under-investigated. AIMS: The longitudinal study of treatment response trajectories considering both baseline and child-therapist interaction features by means of predictive modeling. METHODS AND PROCEDURES: N = 25 preschool children were monitored for one year during Naturalistic Developmental Behavioral Intervention. N = 100 video-recorded sessions were annotated with an observational coding system at four time points, to extract quantitative interaction features. OUTCOMES AND RESULTS: Baseline and interaction variables were combined to predict response trajectories at one year, and achieved the best predictive performance. The baseline developmental gap, therapist’s efficacy in child engagement, respecting children’s timing after fast behavioral synchronization, and modulating the interplay to prevent child withdrawal emerged as key factors. Further, changes in interaction patterns in the early phase of the intervention were predictive of the overall response to treatment. CONCLUSIONS AND IMPLICATIONS: Clinical implications are discussed, stressing the importance of promoting emotional self-regulation during intervention and the possible relevance of the first period of intervention for later response.

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8. Cohen SR, Joseph K, Levinson S, Blacher J, Eisenhower A. « My Autism Is My Own »: Autistic Identity and Intersectionality in the School Context. Autism in adulthood : challenges and management. 2022; 4(4): 315-27.

BACKGROUND: School is an important context for identity development across childhood and adolescence. These formative experiences impact adulthood. Minimal research has examined first-person autistic perspectives of how school experiences shape autistic identity as well as other intersecting identities. In this study, we examined the school messages that autistic individuals received and how individuals engaged with these external messages to formulate their identities. METHODS: Ten U.S.-based autistic adolescents and adults ages 15-35 participated in qualitative interviews about their elementary through secondary school experiences, interactions with teachers and peers, and how these shaped their identities. Two interviewees also engaged in three follow-up interviews each for member checking and further data gathering. Using a critical constructivist approach informed by grounded theory, we coded interviews inductively. We ensured the trustworthiness of data through peer debriefing, reflexive journaling, memoing, and member checking. RESULTS: In the school context, autistic students received stigmatizing messages from teachers and peers regarding their autism. These messages varied in relation to students’ other identities, including race and gender. Participants felt that, following autism disclosure, teachers viewed them narrowly through an autism lens. Participants actively resisted these negative messages from teachers and peers by reclaiming their autistic identity. They reframed and redefined their autistic identity, embraced their autism-related strengths, and actively made choices about how, when, and to whom to disclose their autism. Decisions around autism disclosure intersected with decisions to emphasize other identities such as race or mental health, especially when these identities were more visible or more acceptable to others. CONCLUSIONS: The school context conveyed powerful, stigmatizing messages around autism. In response, autistic students actively reclaimed and shaped their identities to prioritize a positive, empowered sense of self. Findings show a need for educators to model positive perceptions of autism, build an inclusive school community, and advocate for autistic representation in schools to facilitate autism-affirming messages. WHAT WAS THE PURPOSE OF THIS STUDY? This study examined how autistic adolescents’ and adults’ school experiences affected their identities including autism, race, gender, and sexuality. We explored how teachers’ and peers’ messages impacted autistic students’ views of themselves and how participants’ experiences with autism differed by race, gender, mental health, and other identities. WHAT DID THE RESEARCHERS DO? We interviewed 10 autistic adolescents and adults ages 15–35 in the United States and conducted 3 follow-up interviews with 2 participants. Participants had diverse identities across gender, race, and sexuality. Participants answered questions about their autistic identity, their school experiences, and interactions with teachers and peers. We read and analyzed interviews to look for common themes. WHAT WERE THE RESULTS OF THE STUDY? Participants reported receiving negative messages about autism from teachers and peers in school. Participants felt that teachers often treated them differently than other students, seeing only their autism and not seeing other aspects of their identity. Autistic students’ gender and race seemed to also affect how their teachers and peers treated them. For example, autistic women and people of color often described negative experiences related to their teachers’ biases about gender or race. At the same time, autistic participants resisted these negative ideas. They held positive views and saw autism as bringing strengths, such as helping them learn. Participants believed that autistic identity looks different for each person and they were careful in deciding when to tell someone that they were autistic. They emphasized their autistic identity less than other identities that were more visible (e.g., race) or more acceptable to others (e.g., mental health problems). WHAT DO THESE FINDINGS ADD TO WHAT WAS ALREADY KNOWN? Participants were vocal in rejecting negative messages from teachers and peers. They formed their own positive opinions about autism. Most past research does not look at autistic people’s other identities, such as race and gender, but we did: we found that autistic students with other stigmatized identities, such as girls and people of color, reported especially negative treatment in school. WHAT ARE POTENTIAL WEAKNESSES IN THE STUDY? With a small sample, we could not find patterns by gender or race. We did not always ask every participant about how their other identities, such as sexuality, race, or gender, were related to their autistic identity. If we had done so, we may have heard more details from some participants. We also did not have any participants with high communication support needs, and so, we could not include their experiences. As the researchers are all nonautistic, we may have interpreted people’s responses differently from autistic people’s experiences. HOW WILL THESE FINDINGS HELP AUTISTIC ADULTS NOW OR IN THE FUTURE? Teacher and peer messages can negatively affect how autistic youth view themselves and their autistic identity. Teachers should be trained to affirm and support autistic students. Findings also showed that autistic students and their peers learn negative ideas about autism early. To address these biases, we need to educate all students about autism. eng.

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9. Coulter D, Lynch C, Joosten AV. ‘Exploring the perspectives of young adults with developmental disabilities about sexuality and sexual health education’. Australian occupational therapy journal. 2023.

BACKGROUND: Sexuality is important in everyday lives; it contributes to a sense of self. Everyone has a right to access sexual experiences, form relationships, and obtain sexual health education. There is limited literature from the perspective of people with developmental disabilities about their sexuality and particularly how, or if, societal attitudes influence their sexuality and their opinions about sexual health education. The aim of this study was to explore the experiences of young adults with developmental disabilities about their sexuality, their perceptions about how their sexuality was viewed by the community, and about the sexual education that is required and how it should be delivered. METHOD: A qualitative interpretative phenomenological approach using a purposive sample was used to explore the perspectives of young adults, aged between 18 and 32 years old with developmental disabilities, to explore their perspectives on their sexuality, societal attitudes, and access to sexual health education. Seven semi-structured interviews were conducted and analysed using an interpretative phenomenological approach. RESULTS: Five main themes were developed from the data: (1) sexuality is multidimensional and important, (2) the challenges and fear of expressing sexuality, (3) societal views need to change, (4) close support enables sexuality, and (5) sexual health education needs to be individualised. CONCLUSION: Participants suggested that sexuality was important to them, and they had the same expectations about sexuality and relationships as many young adults. However, their autonomy and self-determination to set sexuality goals were constrained by societal attitudes. Supportive family and friends enabled opportunities, but they believed the knowledge and attitudes about disability, and about disability and sexuality, of community members, service providers, funders, and educators needed to change to enable increased opportunity to express their sexuality. Participants reported a need for individualised sexual health education provided by professionals with expertise.

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10. Davis A, Solomon M, Belcher H. Examination of Race and Autism Intersectionality Among African American/Black Young Adults. Autism in adulthood : challenges and management. 2022; 4(4): 306-14.

BACKGROUND: African American/Black (AA/B) young adults with diagnoses of autism spectrum disorders rarely are studied in a way that acknowledges both their racial identity and their autism diagnosis. Little is known about intersectional oppression in the lives of these young adults. Early adulthood is a time when a young people of color may come to terms with a society that may not treat them fairly and equally due to their race. Autistic AA/B young adults may be even more vulnerable to stress and psychological disempowerment due to the added impact of negative experiences of being Black and having an autism diagnosis. METHODS: Thirty-two autistic and 30 non-autistic AA/B young adults took part in an online survey examining risk factors of everyday discrimination, perceived stress and potential protective factors of psychological empowerment, and Black identity. Differences in score measures for the autistic and non-autistic samples were examined along with the predictors of perceived stress assessed. Frequencies of intersectional discrimination experiences were also examined. RESULTS: Autistic AA/B participants reported significantly less everyday discriminatory experiences than non-autistic AA/B participants, whereas perceived stress was not significantly different between the two groups. The majority of non-autistic AA/B participants endorsed race as their prime source of experiences of discrimination, whereas autistic AA/B participants also cited being autistic as a major contributor to reports of discrimination. Although the autistic group had significantly lower reports of self-determination, they reported higher on the Black identity, private regard scale, pertaining to feelings about group membership, which can be considered a protective factor. There is heterogeneity in reasons for discriminatory experiences for autistic AA/B young adults whereby some of the participants (12%-30%) endorsed race + disability as dual reasons for experiencing regular discrimination. CONCLUSIONS: Mental health clinicians and other direct service providers working with autistic AA/B young adults should understand that intersecting identities of race and disability may be at play when they are working with these individuals, and that treatment should consider these factors. WHY IS THIS AN IMPORTANT ISSUE? The experiences of autistic African American/Black adults need more attention. There is not much research looking at intersecting identities of race and disability. WHAT WAS THE PURPOSE OF THIS STUDY? The purpose of this study was to examine race + disability intersectionality in discrimination experiences and to examine how risk factors and protective factors vary between autistic and non-autistic African American/Black young adults. WHAT DID THE RESEARCHERS DO? The researchers conducted an online study comparing the experiences of autistic and non-autistic young adults who identified as African American/Black. Thirty-two autistic and 30 non-autistic African American/Black young adults took part in the study looking at experiences of discrimination, stress, Black identity, and self-determination. WHAT WERE THE RESULTS OF THE STUDY? Autistic African American/Black participants reported fewer everyday discriminatory experiences than non-autistic African American/Black participants, but perceived stress was not different between the two groups. Most of the non-autistic African American/Black participants listed race as their prime source of discrimination experiences, whereas autistic African American/Black participants also cited being autistic as a major contributor to reports of discrimination. Reasons for discriminatory experiences for autistic African American/Black young adults are varied, with up to 30% relating to experiences of discrimination being dual issues of race and disability. WHAT DO THESE FINDINGS ADD TO WHAT WAS ALREADY KNOWN? There is a lot of research on the experiences of African African/Black people facing social adversities due to race. This study adds to what is known by shedding light on discrimination experiences of autistic African American/Black young adults. The findings show the need for both societal change and trauma-informed practices with autistic individuals who are negatively impacted by a society that views them through a racialized lens. WHAT ARE POTENTIAL WEAKNESSES IN THE STUDY? This study is not reflective of all autistic African American/Black people. Individuals who took part in the study may have self-selected due to interest in the topic. In addition, gender was not taken into account for this study. HOW WILL THESE FINDINGS HELP AUTISTIC ADULTS NOW OR IN THE FUTURE? Knowing more about autistic African American/Black young adults’ experiences can help inform advocacy to reduce discrimination and interventions to promote resiliency. The results of this study also highlight the importance of studying intersectionality in disability research. More research is needed about the experiences of autistic African American/Black young adults. eng.

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11. Digard BG, Davis R, Stanfield A, Sorace A, Fletcher-Watson S. « The Languages That You Know Draw the Boundary of Your World »: A Thematic Analysis of the Experiences of Autistic Bilingual Adults Living in the United Kingdom. Autism in adulthood : challenges and management. 2022; 4(4): 328-39.

BACKGROUND: Although being bilingual (knowing two or more languages) is becoming a more common experience globally, little is known about the combined experience of bilingualism and autism. Research currently available focuses on quantifying language and cognitive development, and the only two qualitative accounts of first-hand experiences are from either bilingual children or highly multilingual adults (with four languages or more), which may not represent the wider autistic bilingual population. All other accounts focus on parents or practitioners. This qualitative study reports the experiences of autistic bi- and multilingual adults, focusing on barriers and enablers to language learning and the reported benefits of bilingualism. METHODS: Thirty-nine U.K.-based autistic bilingual adults (41% female, mean age = 33.2 years, range = 16-61) with knowledge of two to seven languages (mean = 3.6, standard deviation = 1.4) completed an online Demographic and Language Questionnaire, including three open-ended questions about the interplay between autism and bilingualism. A thematic analysis was conducted on the responses to these open-ended questions. RESULTS: Participants perceived many opportunities and benefits brought by bilingualism, in terms of relationships, hobbies, mobility, employment, education, and cultural insight. Respondents reported social communication as being a major benefit of being bilingual, and discussed how bilingualism had broadened their mindset, while identifying factors that had enabled or challenged their language learning journey. CONCLUSIONS: This study builds upon the few reports available to highlight the experiences that are shared by autistic bilingual people regardless of the number of languages they know. It is the first study to report the perspectives of U.K.-based autistic bilingual adults who, in most cases, grew up in a bilingual environment. Accounts of the factors that can facilitate or hinder language learning will inform the development of strategies to better support autistic people. These findings have implications for bilingual families and practitioners supporting autistic bilingual people. WHY IS THIS AN IMPORTANT ISSUE? At least half the world’s population is bilingual or lives in a bilingual environment. However, the experiences of autistic bilingual people are rarely represented or acknowledged. So far, research in this field has concentrated primarily on parent perspectives and on the effects of bilingualism for autistic children’s skills. Only one study to date has focused on understanding the experiences of autistic bilingual adults themselves, but this research focused on multilinguals with four or more languages. It is essential to represent the whole autistic bi- or multilingual community, including those with two or three languages. WHAT WAS THE PURPOSE OF THIS STUDY? The study explored the experiences of autistic bilingual people, focusing on the perceived benefits of bilingualism; the shared experiences of autism, bilingualism, especially regarding identity; and the elements that make language learning easier or more difficult. WHAT DID THE RESEARCHERS DO? Thirty-nine autistic bilingual adults completed an online questionnaire. The questionnaire included quantitative questions about the participants’ language profile, and open-ended questions about their experiences of being autistic and bilingual. The answers were analyzed and summarized using a method called thematic analysis. WHAT WERE THE RESULTS OF THE STUDY? Participants reported that being bilingual had shaped their ability to communicate socially; it had helped them to understand the perspectives of others, and better express themselves. Participants also identified many additional opportunities and benefits of bilingualism in terms of relationships, hobbies, mobility, employment, education, and cultural insight. They discussed how bilingualism had influenced their self-understanding in terms of increased awareness of their own skills, and it had contributed to a broadened mindset. Participants also listed several difficulties in becoming bilingual that they considered linked to being autistic. Participants highlighted several elements that had made their language learning easier or harder, including the learning environment, opportunities for practice, or specific language competencies. WHAT DO THESE FINDINGS ADD TO WHAT WAS ALREADY KNOWN? Previous studies describing the experiences of autistic bilingual people only represented people with four or more languages, and most of these studies only involved one or two people. This study is more representative of the wider autistic bilingual population. It shows that autistic people benefit from bilingualism in their daily life, even when they know “only” two languages. It highlights that being bilingual is a part of autistic bilingual people’s identity. It reports that different autistic people need different learning strategies to best learn additional languages. WHAT ARE POTENTIAL WEAKNESSES IN THE STUDY? Participants answered our pre-set questions online, and our questions had very few prompts. As a result, it is possible that many topics were not mentioned. Future research should build upon the topics presented here to describe them more specifically. HOW WILL THESE FINDINGS HELP AUTISTIC ADULTS NOW OR IN THE FUTURE? There are still many barriers to equal access to additional language learning for autistic people. This study shows how valuable autistic people find bilingualism, and it supports autistic people’s advocacy movement for equal rights and opportunities. eng.

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12. Doyle N, McDowall A, Waseem U. Intersectional Stigma for Autistic People at Work: A Compound Adverse Impact Effect on Labor Force Participation and Experiences of Belonging. Autism in adulthood : challenges and management. 2022; 4(4): 340-56.

BACKGROUND: Little research addresses the experiences of autistic people at work, yet employment prospects remain bleak. The extant literature takes a largely remedial perspective and does not focus on harnessing this population’s considerable talents. In global organizational practice, several programs purposefully target autistic people for their abilities. However, preliminary evidence suggests that such programs are inadvertently attracting mainly White males, to the exclusion of other demographics. Therefore, stigma surrounding autism at work remains, creating potential compound adverse impacts by marginalizing identities, including gender, race, ethnicity, sexuality, and socioeconomic status. We explored the intersection of autism with other marginalizing identities in the context of work. The research focused on labor force participation for autistic people and, for those in employment, perceptions of exclusion and inclusion. We compared the aforementioned variables by gender identity, racial identity, sexuality, socioeconomic background, and geographic origin. METHODS: We undertook a global cross-sectional survey, advertised through various social media platforms and promoted directly to relevant organizations. The survey included a range of validated measures as well as demographic information. We analyzed the data with frequencies, cross tabulations, chi-square tests, and non-parametric, group-wise comparisons. RESULTS: We found preliminary evidence of reduced rates of employment participation by race and geographic location. Females and non-binary people had lower perceptions of inclusion and belonging at work. The perception of accommodation provision had a strong association with inclusion and belonging; more so than incidental provision of flexibility in environment and scheduling not framed as a specific accommodation. CONCLUSIONS: The findings highlight the relational aspects of accommodation and a more universal inclusion perspective. We urge practitioners and researchers to monitor employment participation and levels of inclusion/exclusion using intersectional demographic identification. We appeal for cross-cultural collaboration with academic institutions outside the anglosphere to improve our knowledge of global programs and their impact. WHY IS THIS AN IMPORTANT ISSUE? Employment data show that autistic people find it harder to get and keep work. This study focuses on understanding whether multiple identities and people’s background make a difference. WHAT IS THE PURPOSE OF THIS STUDY? We asked a group of Autistic people about gender and race, as well as being gay lesbian, bisexual, transgender or queer (LGBTQ). We asked where people live, their education, parents’ education and whether they had any diagnoses in addition to autism. We predicted that these things would have a negative effect on autistic employment rates. We thought they would also affect how autistic people felt at work. WHAT WE DID? An online survey was completed by 576 autistic people. We analyzed whether their identities and backgrounds made it more or less likely that they were in work. We then asked the 387 employed people within this group about their experiences at work. We compared their experiences by identity and background to see whether these made a positive or negative difference. WHAT WE FOUND? We found that White Autistic people living in western countries such as the United States and Europe were more likely to have jobs. They were also more likely to have jobs specifically designed for Autistic people. We found that women, non-binary, and transgender autistic people felt less included at work. We also found that feeling that someone cares is more important than any adjustments to work scheduling such as flexible working to support people. WHAT DO THESE FINDINGS ADD TO WHAT WAS ALREADY KNOWN? It is already known that autistic people are less likely to be in work than non-autistic people. This study shows that these overall numbers are masking important differences arising from gender, race, and ethnicity. WHAT ARE THE POTENTIAL WEAKNESSES IN THE STUDY? The survey was taken at one point in time, which does not explain how these differences happened. Most people who completed the study were highly educated. We did not have enough people from the non-western countries or communities of color. Therefore, the sample is not large or diverse enough to draw firm conclusions. HOW WILL THE STUDY HELP AUTISTIC PEOPLE NOW OR IN THE FUTURE? We hope that the study inspires people to think about different identities and additional stigma for autism at work programs. We have provided a sample of baseline data from all over the world that shows a difference by location. Even though this is just a trend, it might spark more research looking at the crossover between autism, identities, and backgrounds. It provides a starting point to help researchers who want to do longer studies that test interventions to improve autistic participation and experiences in work. eng.

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13. Duan K, Eyler L, Pierce K, Lombardo M, Datko M, Hagler D, Taluja V, Zahiri J, Campbell K, Barnes C, Arias S, Nalabolu S, Troxel J, Courchesne E. Language, Social, and Face Regions Are Affected in Toddlers with Autism and Predictive of Language Outcome. Research square. 2023.

Identifying prognostic early brain alterations is crucial for autism spectrum disorder (ASD). Leveraging structural MRI data from 166 ASD and 109 typical developing (TD) toddlers and controlling for brain size, we found that, compared to TD, ASD toddlers showed larger or thicker lateral temporal regions; smaller or thinner frontal lobe and midline structures; larger callosal subregion volume; and smaller cerebellum. Most of these differences were replicated in an independent cohort of 38 ASD and 37 TD toddlers. Moreover, the identified brain alterations were related to ASD symptom severity and cognitive impairments at intake, and, remarkably, they improved the accuracy for predicting later language outcome beyond intake clinical and demographic variables. In summary, brain regions involved in language, social, and face processing were altered in ASD toddlers. These early-age brain alterations may be the result of dysregulation in multiple neural processes and stages and are promising prognostic biomarkers for future language ability.

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14. Eldeeb SY, Ludwig NN, Wieckowski AT, Dieckhaus MF, Algur Y, Ryan V, Dufek S, Stahmer A, Robins DL. Sex differences in early autism screening using the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up (M-CHAT-R/F). Autism : the international journal of research and practice. 2023: 13623613231154728.

This study examined a widely used autism screening tool, the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up to identify differences in screening for autism between toddler males and females. Examining sex differences in screening for autism in toddlerhood is important as it determines who will be referred for evaluations and receive diagnoses, which is critical for access to autism-specific early intervention. This study found that females were less likely to screen positive and be invited for evaluations compared with males. Females at high likelihood for autism were less likely to be diagnosed with autism, which decreases confidence in the screener’s results. Importantly, the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up accurately identified both males and females with autism. Future research should examine ways to improve accuracy in screening results for females.

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15. Fuentes-Alvarez R, Morfin-Santana A, Ibañez K, Chairez I, Salazar S. Energetic optimization of an autonomous mobile socially assistive robot for autism spectrum disorder. Frontiers in robotics and AI. 2022; 9: 1053115.

The usage of socially assistive robots for autism therapies has increased in recent years. This novel therapeutic tool allows the specialist to keep track of the improvement in socially assistive tasks for autistic children, who hypothetically prefer object-based over human interactions. These kinds of tools also allow the collection of new information to early diagnose neurodevelopment disabilities. This work presents the integration of an output feedback adaptive controller for trajectory tracking and energetic autonomy of a mobile socially assistive robot for autism spectrum disorder under an event-driven control scheme. The proposed implementation integrates facial expression and emotion recognition algorithms to detect the emotions and identities of users (providing robustness to the algorithm since it automatically generates the missing input parameters, which allows it to complete the recognition) to detonate a set of adequate trajectories. The algorithmic implementation for the proposed socially assistive robot is presented and implemented in the Linux-based Robot Operating System. It is considered that the optimization of energetic consumption of the proposal is the main contribution of this work, as it will allow therapists to extend and adapt sessions with autistic children. The experiment that validates the energetic optimization of the proposed integration of an event-driven control scheme is presented.

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16. Habermann-Horstmeier L. [The situation of people with intellectual and developmental disabilities in the COVID-19 pandemic-risk factors, problem areas, and measures]. Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz. 2023: 1-9.

Many people with intellectual and developmental disabilities (IDD) were much more affected by COVID-19 than the average population. The morbidity in this population group was significantly higher due to the form of their housing and care as well as disability-associated health factors (such as Down’s syndrome). This led, among other things, to a higher incidence of inpatient settings, a higher mortality rate among hospitalized patients, and a higher case fatality rate among certain subgroups. Risk factors were co-diseases such as dysphagia, epilepsy, or mental disorders. In addition, there were health consequences from restrictive exposure prophylaxis measures at the beginning of the COVID-19 pandemic.This overview article describes the main developments in the care of people with IDD since the beginning of the pandemic. New mental problems or an increase in existing mental problems occurred more frequently in people with IDD who were cared for on an outpatient basis or by relatives. People with IDD in inpatient residential facilities were less frequently affected. The main reasons for psychological problems were lack of social contacts, lost work and employment opportunities, the frightening pandemic situation, and the major structural and personnel changes in the facilities at the beginning of the pandemic. During the pandemic, there were also problems with the implementation of therapeutic and preventive measures. On the other hand, especially in the inpatient area, the « slowing down of life » associated with the restrictions at the beginning of the pandemic also had a stress-reducing effect on some of the people with IDD and was perceived by them as something positive. Caregivers had more time for the genuine (i.e., pedagogical) work. Overall, it was shown that health-promoting measures must also take into account the great heterogeneity of the people with IDD and their living conditions during the pandemic.

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17. He Q, Wang Y, Liu Z, Xia J, Yin H, Qiu Z, Wang H, Xu W, Xu Z, Xie J. Analysis of salivary steroid hormones in boys with autism spectrum disorder. BMC psychiatry. 2023; 23(1): 105.

BACKGROUND: Autism spectrum disorders (ASD) is a neurodevelopmental disorder with high incidence rate and difficult diagnosis. The purpose of this study was to explore whether salivary cortisol, dehydroepiandrosterone (DHEA) and pregnenolone can be used as biomarkers of ASD children. METHODS: The saliva samples of 55 boys with ASD were collected as the experimental group, and the saliva samples of 24 neurotypical boys were collected as the control group. The Child Behavior Checklist (CBCL), Autism Behavior Checklist (ABC), Social Responsiveness Scale (SRS), Repetitive Behavior Scale (RBS) were used to assess the severity of symptoms in boys with ASD. Cortisol, DHEA and pregnenolone concentrations in saliva were measured using an ABSSCIEX QTRAP® 6500 + LC/MS/MS system. SPSS 23.0 was used for statistical analysis. Comparisons between the two groups which conform to normal distribution were performed by T-test, and those which don’t conform to normal distribution were performed by Mann-Whitney U test. Correlation analysis between two variables was performed using Spearman’s correlation analysis. Receiver operating characteristic curve (ROC) analysis was performed to evaluate the discriminatory sensitivity of each hormone between ASD and normal control groups. Logistic regression models were used to analyze whether DHEA and salivary pregnenolone can be used as a biomarker of ASD. RESULTS: There were no significant differences in age, and weight between the ASD group and the normal control group. The ABC, SRS, RBS and CBCL scale scores in the ASD group were significantly higher than those in the normal control group. The salivary DHEA and pregnenolone concentrations in the ASD group were significantly higher than those in the normal control group, but there was no significant difference in cortisol. Spearman’s correlation analysis showed that only pregnenolone associated with ABC. Logistic regression model analysis suggested that pregnenolone in saliva was an independent predictor of ASD. ROC analysis found that pregnenolone had good discrimination sensitivity between ASD and normal controls. CONCLUSION: Gave salivary preoperative a space for utilization as biomarker as number of cases are limited to this high expectation.

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18. Jiao Y, Wang M, Li H, Jia Q, Xu L, Zhong L, Huang J, Li L, Xiang W, Yao P. Prenatal Exposure of Diabetes and Progestin-Mediated Autistic Biomarker in Peripheral Blood Mononuclear Cells. The European journal of neuroscience. 2023.

Despite the importance of early diagnosis and intervention, the diagnosis of autism spectrum disorders (ASD) remains delayed as it is mostly based on clinical symptoms and abnormal behaviors appearing after 2 years of age. Identification of autistic markers remains a top priority in achieving an early and effective ASD diagnosis. We have previously reported that prenatal exposure of hormones or diabetes triggers epigenetic changes and oxidative stress, resulting in gene suppression with autism-like behaviors in offspring. Here, a potential biomarker for ASD diagnosis was established through gene analysis in peripheral blood mononuclear cells (PBMC). The study from in vivo mouse showed that prenatal hormone exposure or maternal diabetes suppresses mRNA expression of ERRα, SOD2, GPER and RORA in the brain as well as oxidative stress and mitochondrial dysfunction, subsequently triggering autism-like behavior in mouse offspring. Also, similar gene suppression was found in hematopoietic stem cells (HSC) and PBMC, with inherited epigenetic changes being identified on the related promoters. The human case-control study found that mRNA levels of ERRα, SOD2, GPER and RORA were significantly reduced in PBMC from ASD subjects (n=132) compared with typically developing (n=135) group. The Receiver Operating Characteristic curve showed a 0.869 ± 0.021 of Area Under the Curve for ASD subjects with 95% confidence interval of 0.829-0.909, together with 1.000 of sensitivity and 0.856 of specificity. In conclusion, the combined mRNA expression in PBMC based on prenatal factor exposure-mediated gene suppression could be a potential biomarker for ASD diagnosis.

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19. Lohiya N, Srivastava L, Lohiya N, Kalrao V. Stress among mothers of children with autism spectrum disorder in comparison to children with & without special health care needs. Journal of pediatric rehabilitation medicine. 2023.

PURPOSE: Parenting a child with special health care needs (SHCN) is often stressful. This study aimed to measure and compare stress among mothers of children with (a) Autism Spectrum Disorder (ASD) – ASD group, (b) Developmental delay without ASD group, (c) SHCN without developmental delay group, and (d) Typically developing group. To assess factors associated with maternal stress in children with developmental disorders. METHODS: A cross-sectional analytical study was performed with children aged 2-12 years and their mothers. The study population was classified into four groups as defined above help of detailed history, developmental & behavioral assessments, psychological assessments, and Child Special Health Care Needs Screener (CSHCN). Parental Stress Scale (PSS) Questionnaire was administered. The main outcome measurement was the PSS and various factors affecting it. RESULTS: The mothers of the ASD group reported a high stress score (50.4±11.4) compared to SHCN without developmental delay group (38.2±8.8) and the Typically developing group (22.3±3.3) (p < 0.05) and higher but not significant stress than Developmental delay without ASD group (45.3±9.6, p > 0.05). Maladaptive behavioral issues and irregular interventions were the factors contributing to higher parental stress in the ASD group (p < 0.05). A moderate positive correlation was observed in rewarding and challenging scores of PSS among mothers of the ASD group, Developmental delay without ASD group, and SHCN without developmental delay group. CONCLUSION: Mothers of the ASD group perceived higher stress as compared to SHCN without developmental delay group and Typically developing group. Evaluation of stress and stressors is crucial for holistic management of ASD.

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20. Lopez K. Intersectionality on the Horizon: Exploring Autism in Adulthood from a Unique Vantage Point. Autism in adulthood : challenges and management. 2022; 4(4): 255-7.

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21. Lopez K, Nicolaidis C, Garcia A, Waisman TC, Cascio MA, Feng B. An Expert Roundtable Discussion on Intersectionality and Autism in Adulthood. Autism in adulthood : challenges and management. 2022; 4(4): 258-64.

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22. Luginsland LA, Haegele JA, Bennett HJ. Lower extremity joint stiffness of autistic adolescents during running at dual speeds. Journal of biomechanics. 2023; 149: 111478.

Running is one of the most common forms of physical activity for autistic adolescents. However, research examining their lower extremity dynamics is sparse. In particular, no information exists regarding lower extremity joint stiffness in autistic adolescents. This study compared knee and ankle joint stiffness during the absorption phase of running between autistic adolescents and non-autistic controls. Motion capture and ground reaction forces were recorded for 22 autistic adolescents and 17 non-autistic age, sex, and BMI matched peers who ran at self-selected and standardized (3.0 m/s) speeds. Group × speed knee and ankle joint stiffness, change in moment, and range of motion were compared using mixed-model ANOVAs. There were no group × speed interactions for any variable. Autistic adolescents presented with significant (12 % and 19 %) reduced knee and ankle joint stiffness, respectively. In addition, autistic adolescents had significant reduced changes in knee and ankle joint moments by 11 % and 21 %, respectively, compared to their non-autistic peers. Only knee joint stiffness and knee joint moments were sensitive to running speed, each significantly increasing with speed by 6 %. Current literature suggests joint stiffness is an important mechanism for stability and usage of the stretch shortening cycle (or elastic recoil); as such, it is possible that the reduced ankle plantar flexor and knee extensor stiffness found in autistic adolescents in this study could be indicative of reduced efficiency during running. As group differences existed across both speeds, autistic adolescents may benefit from therapeutic and/or educational interventions targeting efficient running mechanics.

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23. Lussier-Desrochers D, Massé L, Simonato I, Lachapelle Y, Godin-Tremblay V, Lemieux A. Evaluation of the Effect of a Serious Game on the Performance of Daily Routines by Autistic and ADHD Children. Advances in neurodevelopmental disorders. 2023: 1-13.

OBJECTIVES: Learning and performing new routines are difficult for children with neurodevelopmental disorders. Studies have shown that consistency in child reinforcement and parental support are effective. For example, digital solutions such as serious games can be used to support parents and children in developing these life skills. The objective of this study was to evaluate the effect of a serious game on the performance of daily routines by autistic and ADHD children. METHODS: A total of 201 families (parents and children) participated in the study. The study used a combined 3 (intervention) × 3 (diagnosis) × 3 (time) research design with repeated measures. Participants were randomly assigned to three intervention groups (serious game, parental support, and a combination of serious game and parental support) based on their diagnosis (ASD, ADHD, neurotypical). Latent growth modeling and repeated ANOVAS were performed to analyze routine scores collected at three moments (baseline, midpoint, persistence) over an 8-week period. RESULTS: Results show a moderating effect of diagnosis on child routine trajectory. For ADHD participants, we observed a very important significant clinical effect for two interventions (parental support alone and combination of serious game and parental support) where for ASD children, this effect is observed for only one treatment (combination of serious game and parental support). For neurotypical children, results indicate a very important and significant clinical effect when they use the serious game alone. CONCLUSIONS: Results show that the serious game can improve children’s routines. However, for some neurodevelopmental profiles (ASD or ADHD), the addition of parental support produces greater clinical improvements.

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24. Mallipeddi NV, VanDaalen RA. Intersectionality Within Critical Autism Studies: A Narrative Review. Autism in adulthood : challenges and management. 2022; 4(4): 281-9.

The aim of this narrative review was to examine intersectionality within critical autism studies. A growing body of evidence has demonstrated the importance of intersectional frameworks in highlighting the diverse experiences of marginalized communities. Many disability studies researchers investigated intersectionality to elucidate the impact of race, gender, sexuality, class, and other constructs on disability identification. Within critical autism studies, a field that emerged to challenge the deficit-laden, pathologizing autism discourses favored by the medical community, intersectionality has started to become an integral component of the literature. This review highlights intersectional frameworks utilized to explore autism in both academic and nonacademic contexts, to provide a foundation for future study. Upon analysis, we found overarching themes regarding the explicit, implicit, and descriptive approaches to intersectionality, racial and gender biases within critical autism studies, and the multidisciplinary nature of intersectionality and critical autism studies. We finish the review with recommendations for how to more fully address the experiences of all autistic people-particularly of racial, gender, and sexual minority individuals-in future study. Our recommendations include utilizing intersectionality as an analytical lens for describing previously overlooked phenomena and questioning central tenets of methodology and processes, including developing research questions, analyzing data, and writing results. WHY IS THIS TOPIC IMPORTANT? Intersectionality means that many different social influences make up a person’s experiences. Examples of these social influences are gender and sexism, ethnicity and racism, and disability and ableism. This topic is important because different autistic people may have different experiences depending on these other social factors. Studying intersectionality helps us to understand these differences and better serve those autistic communities that may be ignored. WHAT IS THE PURPOSE OF THIS ARTICLE? We looked at how authors of published studies and community projects have thought about intersectionality in autistic communities. WHAT PERSONAL OR PROFESSIONAL PERSPECTIVES DO THE RESEARCHERS BRING TO THIS TOPIC? Both authors have invisible disabilities. We have both done research on disability and social influences, and we have worked with people in disability communities, including autistic communities. We have also noticed how our gender, race, and sexual orientation have affected how we experience our disabilities. WHAT RESULTS DID THE RESEARCHERS FIND? We found three main ways that authors talked about intersectionality. (1) Sometimes authors directly talk about intersectionality. This means that some authors use the idea of intersectionality to help them think of a research question or to help them understand their data. In these cases, authors use the word “intersectionality” in their articles. (2) Sometimes authors talk about intersectionality, but not directly. This means that some authors do not use the word “intersectionality” to talk about their research, but they still use similar ideas. For example, sometimes authors looked at what it is like to be an autistic woman. This topic is intersectional because it talks about two different social influences (autism and gender). However, the authors did not directly write that it was intersectional. (3) Finally, sometimes authors do not talk about intersectionality, but their study can be used as a starting point for talking about intersectionality later. For example, sometimes authors look at differences in whether people are diagnosed with autism, based on their race. Research such as this can be helpful because other researchers can use it to make studies to learn about why differences between autistic groups happen. WHAT DO THE RESEARCHERS RECOMMEND? We recommend that researchers in many fields and people working with autistic communities think about how intersectionality and social influences affect autistic people. They can do this when thinking of research questions, understanding their data, and writing about their results. We also recommend that researchers think more about racial, gender, and sexual minority group experiences within the autistic community. This is important because sometimes researchers or stakeholders have forgotten about certain groups of autistic people. HOW WILL THESE RECOMMENDATIONS HELP AUTISTIC ADULTS NOW OR IN THE FUTURE? Thinking about intersectionality can help people understand autistic people’s different experiences, especially in terms of how these experiences are affected by social influences. We hope that our article leads to research that makes life better for all autistic people and fits better for autistic people who have been ignored or forgotten about in some research or advocacy projects. eng.

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25. Malone KM, Pearson JN, Palazzo KN, Manns LD, Rivera AQ, Mason Martin DL. The Scholarly Neglect of Black Autistic Adults in Autism Research. Autism in adulthood : challenges and management. 2022; 4(4): 271-80.

Black autistic individuals, regardless of age, have not been centered in autism research. Instead, they often exist on the margins-on the periphery of autism research. In fact, Black autistic adults are largely absent from the literature. Most participants in autism research are majority-white autistic individuals and families. In this conceptual article, we use intersectionality and Dis/ability Studies and Critical Race Theory theories to contextualize Black autistic adults’ experiences. Second, we argue that systemic disparities and methodological concerns are two contributors to the scholarly neglect of Black autistic adults in autism research. Third, we provide guidelines to support researchers in moving from neglect to inclusive research with Black autistic adults. WHY IS THIS TOPIC IMPORTANT? The experiences of Black autistic adults are not well represented in research. The lack of cultural responsiveness in autism research ignores the nuanced experiences of Black autistic adults, which limits the ability to understand their experiences and effectively meet their needs. WHAT IS THE PURPOSE OF THIS ARTICLE? The purpose of this article is to highlight the void in autism research concerning Black autistic adults. This article is a call to action for research that is inclusive of Black autistic adults. Specifically, we (1) use intersectionality and Dis/ability Studies and Critical Race Theory theories to contextualize Black autistic adults’ experiences, (2) describe the systemic disparities (e.g., health care) that contribute to the scholarly neglect of Black autistic adults, and (3) provide guidelines to support researchers in moving from neglect to inclusive research with Black autistic adults. WHAT PERSONAL OR PROFESSIONAL PERSPECTIVES DO THE AUTHORS BRING TO THIS TOPIC? The first author identifies as a white, non-binary, doctoral student in Applied Developmental Science and Special Education. The second author identifies as a Black, cisgender female, Assistant Professor of Special Education. The third author identifies as a white, non-binary, autistic autism researcher. The fourth author identifies as a Black, cisgender male, doctoral student in Educational Equity. The fifth author identifies as a black, cisgender female, doctoral student in Educational Equity. The sixth author identifies as a Black, cisgender female, dual-licensed special education teacher, and doctoral student in Educational Equity. Although none of the authors embody the lived experience of being both Black and autistic, our research team is committed to supporting and advocating for Black autistic individuals through our ongoing professional development and dedication to strength-based, and identity-centered research. WHAT IS ALREADY KNOWN ABOUT THIS TOPIC? Although we know about disparities in Black autistic children, little research has focused on the experiences of Black autistic adults. Most of what we know about autistic adults is based on the experiences of white participants. WHAT DO THE AUTHORS RECOMMEND? First, we recommend that researchers work to understand how their own perspectives, values, and experiences shape their research (e.g., cultural reciprocity). Second, we recommend that researchers intentionally include the perspectives and experiences of Black autistic adults. This can include collaborating on research with Black autistic scholars and highlighting autistic and Black autistic led research. Finally, we advocate for systemic changes in institutions of higher education (e.g., reduce barriers to admission) and in communities (e.g., culturally responsive supports) to better address the inequities that impact the representation of Black autistic adults in autism research. HOW WILL THESE RECOMMENDATIONS HELP AUTISTIC ADULTS NOW OR IN THE FUTURE? These recommendations will prepare researchers with strategies to effectively build partnerships with Black autistic adults in ways that honor their knowledge and contributions to the field. As a result, Black autistic adults will have more representation in autism research, both as participants and as leading scholars in the field. We hope that more inclusive representation of Black autistic adults will lead to more culturally responsive approaches in adult autism research. eng.

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26. O’Flanagan S, Nicolson R. Survey results on training in developmental disabilities in Canadian psychiatry residency programs. Journal of the Canadian Academy of Child and Adolescent Psychiatry = Journal de l’Academie canadienne de psychiatrie de l’enfant et de l’adolescent. 2023; 32(1): 4-13.

OBJECTIVE: Mental health problems in children, adolescents, and adults with developmental disabilities (DD) are an underserviced clinical area. Although the Royal College of Physicians and Surgeons of Canada requires that experiences with patients with DD must be included during psychiatry residency training, the type and extent of this experience is not specified. The purpose of this study was to examine the current educational opportunities regarding DD in Canadian psychiatry residency programs. METHODS: A survey asking about training in DD was sent to psychiatry residency directors at all 17 medical schools in Canada. The survey consisted of three sections focused on didactic teaching and clinical rotations (required and elective) in DD for residents. RESULTS: Program directors of all psychiatry residency programs noted that their program included didactic teaching specific to DD, although the time dedicated to this differed greatly, ranging from 2 to 20 hours. Although 13 programs offered electives in DD, only five programs required residents to complete a clinical rotation specific to DD. Two programs did not have required or elective rotations in DD. CONCLUSION: These results suggest that training specific to DD is probably inadequate for most residents. This is likely to result in limitations in knowledge and skills required to assess and treat people with DD, decreased comfort working with them, and ultimately reduced quality and availability of psychiatric care for this underserved population. More specific and comprehensive training requirements and opportunities are needed to ensure that residents receive appropriate training in this area.

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27. Orekhova EV, Manyukhina VO, Galuta IA, Prokofyev AO, Goiaeva DE, Obukhova TS, Fadeev KA, Schneiderman JF, Stroganova TA. Gamma oscillations point to the role of primary visual cortex in atypical motion processing in autism. PloS one. 2023; 18(2): e0281531.

Neurophysiological studies suggest that abnormal neural inhibition may explain a range of sensory processing differences in autism spectrum disorders (ASD). In particular, the impaired ability of people with ASD to visually discriminate the motion direction of small-size objects and their reduced perceptual suppression of background-like visual motion may stem from deficient surround inhibition within the primary visual cortex (V1) and/or its atypical top-down modulation by higher-tier cortical areas. In this study, we estimate the contribution of abnormal surround inhibition to the motion-processing deficit in ASD. For this purpose, we used a putative correlate of surround inhibition-suppression of the magnetoencephalographic (MEG) gamma response (GR) caused by an increase in the drift rate of a large annular high-contrast grating. The motion direction discrimination thresholds for the gratings of different angular sizes (1° and 12°) were assessed in a separate psychophysical paradigm. The MEG data were collected in 42 boys with ASD and 37 typically developing (TD) boys aged 7-15 years. Psychophysical data were available in 33 and 34 of these participants, respectively. The results showed that the GR suppression in V1 was reduced in boys with ASD, while their ability to detect the direction of motion was compromised only in the case of small stimuli. In TD boys, the GR suppression directly correlated with perceptual suppression caused by increasing stimulus size, thus suggesting the role of the top-down modulations of V1 in surround inhibition. In ASD, weaker GR suppression was associated with the poor directional sensitivity to small stimuli, but not with perceptual suppression. These results strongly suggest that a local inhibitory deficit in V1 plays an important role in the reduction of directional sensitivity in ASD and that this perceptual deficit cannot be explained exclusively by atypical top-down modulation of V1 by higher-tier cortical areas.

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28. Parker TC, Zhang X, Noah JA, Tiede M, Scassellati B, Kelley M, McPartland JC, Hirsch J. Neural and visual processing of social gaze cueing in typical and ASD adults. medRxiv : the preprint server for health sciences. 2023.

Atypical eye gaze in joint attention is a clinical characteristic of autism spectrum disorder (ASD). Despite this documented symptom, neural processing of joint attention tasks in real-life social interactions is not understood. To address this knowledge gap, functional-near infrared spectroscopy (fNIRS) and eye-tracking data were acquired simultaneously as ASD and typically developed (TD) individuals engaged in a gaze-directed joint attention task with a live human and robot partner. We test the hypothesis that face processing deficits in ASD are greater for interactive faces than for simulated (robot) faces. Consistent with prior findings, neural responses during human gaze cueing modulated by face visual dwell time resulted in increased activity of ventral frontal regions in ASD and dorsal parietal systems in TD participants. Hypoactivity of the right dorsal parietal area during live human gaze cueing was correlated with autism spectrum symptom severity: Brief Observations of Symptoms of Autism (BOSA) scores (r = −0.86). Contrarily, neural activity in response to robot gaze cueing modulated by visual acquisition factors activated dorsal parietal systems in ASD, and this neural activity was not related to autism symptom severity (r = 0.06). These results are consistent with the hypothesis that altered encoding of incoming facial information to the dorsal parietal cortex is specific to live human faces in ASD. These findings open new directions for understanding joint attention difficulties in ASD by providing a connection between superior parietal lobule activity and live interaction with human faces. LAY SUMMARY: Little is known about why it is so difficult for autistic individuals to make eye contact with other people. We find that in a live face-to-face viewing task with a robot, the brains of autistic participants were similar to typical participants but not when the partner was a live human. Findings suggest that difficulties in real-life social situations for autistic individuals may be specific to difficulties with live social interaction rather than general face gaze.

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29. Potter SN, Bullard L, Banasik A, Feigles RT, Nguyen V, McDuffie A, Thurman AJ, Hagerman R, Abbeduto L. Family and Caregiver Characteristics Contribute to Caregiver Change in Use of Strategies and Growth in Child Spoken Language in a Parent-Implemented Language Intervention in Fragile X Syndrome. Perspectives of the ASHA special interest groups. 2022; 7(6): 1630-44.

PURPOSE: This study examined relationships among family characteristics, caregiver change in use of strategies, and child growth in spoken language over the course of a parent-implemented language intervention (PILI) that was developed to address some of the challenges associated with the fragile X syndrome (FXS) phenotype. METHOD: Participants were 43 parent-child dyads from two different PILI studies, both of which taught parents various language facilitation strategies to support child language. Before starting the intervention, parents reported on their mental health, parenting stress, and parenting competence. This study focused on potential barriers to treatment gains by examining correlations between the measures of parent well-being and (a) parent change in use of intervention strategies taught in the PILI and (b) changes in child language outcomes from preto post-intervention. RESULTS: Parents in this study had elevated mental health symptoms across several domains and increased rates of parenting stress. Furthermore, although PILI resulted in treatment gains for both parents and children, a variety of parent mental health symptoms were found to be significantly and negatively associated with change in use of strategies and growth in child language over the course of the intervention. Some inconsistent findings also emerged regarding the relationships between parenting stress and competence and change in parent strategy use and growth in child language. CONCLUSIONS: This study provides preliminary evidence that parents who are experiencing significant mental health challenges may have a more difficult time participating fully in PILIs and that there may be subsequent effects on child outcomes. Future PILIs could benefit from addressing parent well-being as a substantial part of the intervention program.

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30. Rose K, Michael C. Re: Older Age Autism Research: A Rapidly Growing Field, but Still a Long Way to Go by Mason et al.; DOI: 10.1089/aut.2021.0041 (Previously titled: The Rising Tide of « Gerontautism »). Autism in adulthood : challenges and management. 2022; 4(2): 173-5.

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31. Uddin LQ. Exceptional abilities in autism: Theories and open questions. Current directions in psychological science. 2022; 31(6): 509-17.

The vast majority of research on autism spectrum disorder (ASD) focuses on characterizing and addressing the social communication deficits and restricted, repetitive patterns of behavior that constitute the diagnostic criteria for the disorder. Yet, a small but significant portion of individuals diagnosed with ASD exhibit exceptional cognitive abilities in one or more domains. These « twice-exceptional » individuals often have unique skills that enable them to make significant contributions to the workforce, while at the same time facing unique challenges during the transition to independent living due to a lack of services and broad public misperceptions regarding their condition. Here we review the current literature on cognitive divergence in ASD, focusing on cognitive theories, neural substrates, and clinical and societal implications for increasing understanding of this phenomenon.

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32. van der Westhuizen ET. Single nucleotide variations encoding missense mutations in G protein-coupled receptors may contribute to autism. British journal of pharmacology. 2023.

Autism is a neurodevelopmental condition with a range of symptoms that vary in intensity and severity from person to person. Genetic sequencing has identified thousands of genes containing mutations in autistic individuals, which may contribute to the development of autistic symptoms. Several of these genes encode G protein-coupled receptors (GPCRs) which are cell surface expressed proteins that transduce extracellular messages to the intracellular space. Mutations in GPCRs can impact their function, resulting in aberrant signalling within cells, and across neurotransmitter systems in the brain. This review summarises the current knowledge on autism-associated single nucleotide variations encoding missense mutations in GPCRs, and the impact of these genetic mutations on GPCR function. For some autism-associated mutations, changes in GPCR expression levels, ligand affinity, potency and efficacy have been observed; however, for many the functional consequences remain unknown. Thus, further work to characterise the functional impacts of the genetically identified mutations is required.

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33. Vibert B, Segura P, Gallagher L, Georgiades S, Pervanidou P, Thurm A, Alexander L, Anagnostou E, Aoki Y, Birken CS, Bishop SL, Boi J, Bravaccio C, Brentani H, Canevini P, Carta A, Charach A, Costantino A, Cost KT, Cravo EA, Crosbie J, Davico C, Donno F, Fujino J, Gabellone A, Geyer CT, Hirota T, Kanne S, Kawashima M, Kelley E, Kim H, Kim YS, Kim SH, Korczak DJ, Lai MC, Margari L, Marzulli L, Masi G, Mazzone L, McGrath J, Monga S, Morosini P, Nakajima S, Narzisi A, Nicolson R, Nikolaidis A, Noda Y, Nowell K, Polizzi M, Portolese J, Riccio MP, Saito M, Schwartz I, Simhal AK, Siracusano M, Sotgiu S, Stroud J, Sumiya F, Tachibana Y, Takahashi N, Takahashi R, Tamon H, Tancredi R, Vitiello B, Zuddas A, Leventhal B, Merikangas K, Milham MP, Di Martino A. CRISIS AFAR: an international collaborative study of the impact of the COVID-19 pandemic on mental health and service access in youth with autism and neurodevelopmental conditions. Molecular autism. 2023; 14(1): 7.

BACKGROUND: Heterogeneous mental health outcomes during the COVID-19 pandemic are documented in the general population. Such heterogeneity has not been systematically assessed in youth with autism spectrum disorder (ASD) and related neurodevelopmental disorders (NDD). To identify distinct patterns of the pandemic impact and their predictors in ASD/NDD youth, we focused on pandemic-related changes in symptoms and access to services. METHODS: Using a naturalistic observational design, we assessed parent responses on the Coronavirus Health and Impact Survey Initiative (CRISIS) Adapted For Autism and Related neurodevelopmental conditions (AFAR). Cross-sectional AFAR data were aggregated across 14 European and North American sites yielding a clinically well-characterized sample of N = 1275 individuals with ASD/NDD (age = 11.0 ± 3.6 years; n females = 277). To identify subgroups with differential outcomes, we applied hierarchical clustering across eleven variables measuring changes in symptoms and access to services. Then, random forest classification assessed the importance of socio-demographics, pre-pandemic service rates, clinical severity of ASD-associated symptoms, and COVID-19 pandemic experiences/environments in predicting the outcome subgroups. RESULTS: Clustering revealed four subgroups. One subgroup-broad symptom worsening only (20%)-included youth with worsening across a range of symptoms but with service disruptions similar to the average of the aggregate sample. The other three subgroups were, relatively, clinically stable but differed in service access: primarily modified services (23%), primarily lost services (6%), and average services/symptom changes (53%). Distinct combinations of a set of pre-pandemic services, pandemic environment (e.g., COVID-19 new cases, restrictions), experiences (e.g., COVID-19 Worries), and age predicted each outcome subgroup. LIMITATIONS: Notable limitations of the study are its cross-sectional nature and focus on the first six months of the pandemic. CONCLUSIONS: Concomitantly assessing variation in changes of symptoms and service access during the first phase of the pandemic revealed differential outcome profiles in ASD/NDD youth. Subgroups were characterized by distinct prediction patterns across a set of pre- and pandemic-related experiences/contexts. Results may inform recovery efforts and preparedness in future crises; they also underscore the critical value of international data-sharing and collaborations to address the needs of those most vulnerable in times of crisis.

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34. Waizbard-Bartov E, Fein D, Lord C, Amaral DG. Autism severity and its relationship to disability. Autism research : official journal of the International Society for Autism Research. 2023.

Autism severity is currently defined and measured based exclusively on the severity levels of the two core symptom domains: social-communication and restricted or repetitive patterns of behaviors and interests. Autistic individuals, however, are often diagnosed with other medical, developmental, and psychological co-occurring conditions. These additional challenges such as intellectual disability, limited expressive and/or receptive language, and anxiety disorders, can have a tremendous impact on the day-to-day lives of autistic individuals, for both their adaptive functioning as well as their sense of wellbeing. Furthermore, the initial presentation of core symptoms and their likelihood of changing over time are influenced by the presence of such co-occurring conditions. In order to truly understand how a person’s autism impacts their life, both core symptoms as well as other challenges should be considered. This approach was recently taken byThe Lancet Commission on the future of care and clinical research in autism, which proposed the term « profound autism » for a subgroup of individuals presenting with high core symptom severity, co-occurring intellectual disability, and little or no language, who require extensive long-term care. Considering other individual factors such as daily living skills, specific support needs and environmental resources would also enhance the evaluation of disability in autistic individuals. As currently employed in the assessment of intellectual disability, a multidimensional approach to autism could provide a more comprehensive system for classification of impairment. At present, however, there is no formal way to designate the combined effect of these different aspects of autism on a person’s life. A comprehensive outlook that acknowledges impairments, capabilities, co-occurring conditions, and environmental factors would be useful for identifying subgroups of individuals as well as for determining individual needs and strengths in clinical assessments.

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35. Weigel B, Tegethoff JF, Grieder SD, Lim B, Nagarajan B, Liu YC, Truberg J, Papageorgiou D, Adrian-Segarra JM, Schmidt LK, Kaspar J, Poisel E, Heinzelmann E, Saraswat M, Christ M, Arnold C, Ibarra IL, Campos J, Krijgsveld J, Monyer H, Zaugg JB, Acuna C, Mall M. MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention. Molecular psychiatry. 2023.

MYT1L is an autism spectrum disorder (ASD)-associated transcription factor that is expressed in virtually all neurons throughout life. How MYT1L mutations cause neurological phenotypes and whether they can be targeted remains enigmatic. Here, we examine the effects of MYT1L deficiency in human neurons and mice. Mutant mice exhibit neurodevelopmental delays with thinner cortices, behavioural phenotypes, and gene expression changes that resemble those of ASD patients. MYT1L target genes, including WNT and NOTCH, are activated upon MYT1L depletion and their chemical inhibition can rescue delayed neurogenesis in vitro. MYT1L deficiency also causes upregulation of the main cardiac sodium channel, SCN5A, and neuronal hyperactivity, which could be restored by shRNA-mediated knockdown of SCN5A or MYT1L overexpression in postmitotic neurons. Acute application of the sodium channel blocker, lamotrigine, also rescued electrophysiological defects in vitro and behaviour phenotypes in vivo. Hence, MYT1L mutation causes both developmental and postmitotic neurological defects. However, acute intervention can normalise resulting electrophysiological and behavioural phenotypes in adulthood.

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36. Wigdor EM, Weiner DJ, Grove J, Fu JM, Thompson WK, Carey CE, Baya N, van der Merwe C, Walters RK, Satterstrom FK, Palmer DS, Rosengren A, Bybjerg-Grauholm J, Hougaard DM, Mortensen PB, Daly MJ, Talkowski ME, Sanders SJ, Bishop SL, Børglum AD, Robinson EB. The female protective effect against autism spectrum disorder. Cell genomics. 2022; 2(6): 100134.

Autism spectrum disorder (ASD) is diagnosed three to four times more frequently in males than in females. Genetic studies of rare variants support a female protective effect (FPE) against ASD. However, sex differences in common inherited genetic risk for ASD are less studied, particularly within families. Leveraging the Danish iPSYCH resource, we found siblings of female ASD cases (n = 1,707) had higher rates of ASD than siblings of male ASD cases (n = 6,270; p < 1.0 × 10(-10)). In the Simons Simplex and SPARK collections, mothers of ASD cases (n = 7,436) carried more polygenic risk for ASD than fathers of ASD cases (n = 5,926; 0.08 polygenic risk score [PRS] SD; p = 7.0 × 10(-7)). Further, male unaffected siblings under-inherited polygenic risk (n = 1,519; p = 0.03). Using both epidemiologic and genetic approaches, our findings strongly support an FPE against ASD's common inherited influences.

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37. Zhu FL, Wang SH, Liu WB, Zhu HL, Li M, Zou XB. A multimodal machine learning system in early screening for toddlers with autism spectrum disorders based on the response to name. Frontiers in psychiatry. 2023; 14: 1039293.

BACKGROUND: Reduced or absence of the response to name (RTN) has been widely reported as an early specific indicator for autism spectrum disorder (ASD), while few studies have quantified the RTN of toddlers with ASD in an automatic way. The present study aims to apply a multimodal machine learning system (MMLS) in early screening for toddlers with ASD based on the RTN. METHODS: A total of 125 toddlers were recruited, including ASD (n = 61), developmental delay (DD, n = 31), and typical developmental (TD, n = 33). Procedures of RTN were, respectively, performed by the evaluator and caregiver. Behavioral data were collected by eight-definition tripod-mounted cameras and coded by the MMLS. Response score, response time, and response duration time were accurately calculated to evaluate RTN. RESULTS: Total accuracy of RTN scores rated by computers was 0.92. In both evaluator and caregiver procedures, toddlers with ASD had significant differences in response score, response time, and response duration time, compared to toddlers with DD and TD (all P-values < 0.05). The area under the curve (AUC) was 0.81 for the computer-rated results, and the AUC was 0.91 for the human-rated results. The accuracy in the identification of ASD based on the computer- and human-rated results was, respectively, 74.8 and 82.9%. There was a significant difference between the AUC of the human-rated results and computer-rated results (Z = 2.71, P-value = 0.007). CONCLUSION: The multimodal machine learning system can accurately quantify behaviors in RTN procedures and may effectively distinguish toddlers with ASD from the non-ASD group. This novel system may provide a low-cost approach to early screening and identifying toddlers with ASD. However, machine learning is not as accurate as a human observer, and the detection of a single symptom like RTN is not sufficient enough to detect ASD.

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