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PurposeDaily mood can be influenced by a range of experiences. Identifying everyday life experiences that make autistic adults happy and unhappy holds potential to foster positive mood and tackle mental health problems amongst this group.MethodsA total of 293 autistic adults between the ages of 18 to 35 years old (mean age of 26.51 years old (SD = 4.62); 43.3% female gender, 4.8% nonbinary) provided open-text responses regarding everyday sources of happiness and unhappiness. Using an iterative process of inductive coding, 14 happy themes and 22 unhappy themes of mood-changing life experiences were identified based on self-report qualitative data.ResultsCommon themes across the happy and unhappy domain involved social partners, social interactions, and engagement in recreational and employment activities, with additional distinct themes specific to happy or unhappy mood. Top themes identified in the happy domain emphasizes encouraging quality relationships and positive interactions with others and cultivating supportive work/societal environments to build a sense of achievement and value. Meanwhile, emotional tolls accompanied negative relationships and interactions, underscoring the necessity to provide autistic adults with conflict resolution and coping skills to increase feelings of happiness.ConclusionOverall, the wide range of sources of happy and unhappy everyday experiences highlights the importance of considering personal preferences in engagement with others and activities in treatment.

Adults with autism spectrum disorder (ASD) experience high rates of both unemployment and depression. Though job loss predicts increased risk of depression in the general population, studies have yet to directly examine this relationship among individuals with ASD. With the backdrop of rising unemployment due to COVID-19, we used a longitudinal design to examine whether employment changes predicted increasing depressive symptoms among young adults with ASD. Online surveys were collected from young adults with ASD at two times: just before widespread social distancing measures were adopted in the United States, and again 10 weeks later. Both time points included measurement of depressive symptoms (Beck Depression Inventory-2). At Time 2, COVID-related employment changes and the perceived impact of those changes on well-being were collected. Of the young adults who were employed at Time 1 (n=144), over one-third (37.5%) reported employment changes during the first 2 months of COVID-19. Most of this change was job loss or reductions in hours or pay ("job loss/reduction"). Controlling for Time 1 depressive symptoms, young adults who experienced job loss/reduction had significantly higher depressive symptoms at Time 2 than those without an employment change. Individuals' perceived impact of employment change also predicted depressive symptoms. These findings suggest that losing a job or experiencing reductions in hours or pay leads to worsening depressive symptoms among adults with ASD. Better supporting autistic adults in the workplace may not only decrease the likelihood of job loss, but also combat the exceedingly high rates of depression in this group. LAY SUMMARY: Though unemployment has been linked to mental health problems in the general population, this relationship is seldom considered among adults with autism. In this study, we found that adults on the autism spectrum who lost their jobs or experienced reductions in pay or hours during the first 2 months of COVID-19 had worsening depression compared to adults who did not have job changes. Our findings suggest that increasing access to employment may help alleviate poor mental health among autistic adults.

The COVID‐19 pandemic has posed unique challenges for families and caregivers, as well as for autism‐focused clinicians, who are faced with providing a thorough and accurate evaluation of children's specific needs and diagnoses in the absence of in‐person assessment tools. The shift to telehealth assessments has challenged clinicians to reconsider approaches and assumptions that underlie the diagnostic assessment process, and to adopt new ways of individualizing standard assessments according to family and child needs. Mandates for physical distancing have uncovered deficiencies in diagnostic practices for suspected autism and have illuminated biases that have posed obstacles preventing children and families from receiving the services that they truly need. This Commentary outlines several considerations for improving diagnostic practices as we move forward from the current pandemic and continue to strive to build an adaptable, sustainable, equitable, and family‐centered system of care. Lay Summary Physical distancing and the abrupt end to in‐person services for many children on the autism spectrum has forced clinicians to examine the existing challenges with autism spectrum disorder (ASD) diagnostic assessment and consider things they want to keep and things that should be changed in the years ahead. New approaches such as telehealth both alleviated and exacerbated existing disparities, and brought into stark focus the importance of equitable and timely access to family‐centered care. This commentary suggests ways of improving clinical practices related to ASD assessment to continue along this path.

Symptoms of autism spectrum disorder and attention-deficit/hyperactivity disorder often co-occur, challenging timely, and accurate diagnosis. We assessed the performance of three parent-report measures in discriminating autism spectrum disorder from attention-deficit/hyperactivity disorder without autism spectrum disorder (ADHDw/oASD) in school-age verbally fluent children. We examined the Autism Symptom Interview – School-Age and two widely used parent questionnaires: Social Responsiveness Scale – 2nd Edition and Social Communication Questionnaire – Lifetime. Receiver operating characteristic curves assessed each instrument’s performance against the best-estimate clinician Diagnostic and Statistical Manual of Mental Disorders, 5th Edition diagnosis of autism spectrum disorder or of ADHDw/oASD ( n = 74, n = 102, respectively; 6–11 years). These yielded moderate accuracies: area under the curve = 0.85, 0.79, and 0.78 for Social Communication Questionnaire – Lifetime, Autism Symptom Interview, and Social Responsiveness Scale – 2nd Edition, respectively. Area under the curve pairwise comparisons reached our statistical significance ( p w/oASD. Lay abstract We tested the ability of a short, recently developed parent interview and two widely used parent-report questionnaires to discriminate school-age verbal children with autism spectrum disorder from those with attention-deficit/hyperactivity disorder without autism spectrum disorder (ADHDw/oASD). These measures included the Autism Symptom Interview – School-Age, the Social Responsiveness Scale – 2nd Edition, and the Social Communication Questionnaire – Lifetime. The classification accuracy of all three parent screeners fell in the moderate range. Accuracy varied by instrument, and the Social Communication Questionnaire – Lifetime questionniare showed the highest accuracy. Children with autism spectrum disorder who were incorrectly classified by all parent screeners did not differ from those correctly classified in regard to demographics, intellectual abilities, nor in any specific clinical area beyond general parent concerns. These findings showed that there are valid screening options for assessing school-age verbal children with autism spectrum disorder versus ADHDw/oASD. They also underscore the need to assess multiple sources of information for increased accuracy.

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.

Depression is a common problem for adults on the autism spectrum, but little is known about depression-related service receipt in this group. To understand depression diagnostic and treatment status better, we collected information on current depressive symptoms, depression diagnosis, and treatment status of 315 young adults with a childhood diagnosis of autism from the Simons Foundation Powering Autism Research for Knowledge registry. About two-thirds (65.4%) of the adults had been diagnosed with depression, and 46.7% currently met clinical cut-offs for depression on depressive symptoms measures. Among the currently depressed, the majority (83.0%) had a formal depression diagnosis. Despite being no more likely than males to be currently depressed, females (biological sex) were more likely to have received a depression diagnosis. As for depression treatment, 58.5% of currently depressed adults were currently being treated, and 68% had previously received treatment. Medication was the most common form of treatment, followed by individual therapy. Likelihood of receiving depression treatment was higher among those with a formal depression diagnosis and with higher levels of education. Adults reported several barriers to accessing treatment for depression, including financial and insurance issues, accessibility to appropriate care, and professionals’ lack of understanding about depression in autism. Lay abstract Depression is common among adults on the autism spectrum, but little is known about the extent to which these adults living in the community access diagnostic and treatment services for depression. To address this gap, we surveyed 315 adults on the autism spectrum on depression symptoms, diagnosis, and services. About half of the sample had scores on standard depression measures that suggested they were currently depressed ( n = 147, 46.7%). Among the currently depressed, most of them had received a depression diagnosis from a professional. Depressed females were about 3.5 times more likely than depressed males to have a depression diagnosis. More than half of the currently depressed adults on the autism spectrum reported receiving depression treatment at the time of the study, while about two-thirds had previously received treatment. Those with a depression diagnosis were more likely to have received treatment, and those who had some education beyond high school were more likely to be currently receiving treatment. Financial and insurance issues were the most common barriers that adults reported in accessing treatment for depression.

This study examined COVID-19-related distress among adults with autism spectrum disorder and its associations with demographic and mental health information. A sample of 275 adults (ages 18–35) in the United States, all capable of providing self-reports, was recruited from a large national registry. Adults completed online surveys of mental health symptoms just before COVID-19 was declared a pandemic. Two months later, they completed the same surveys of mental health symptoms, and also reported about distress they had experienced as a result of the COVID-19 pandemic. Nearly two-thirds (65.9%) endorsed some form of COVID-related distress with a little over half reporting any individual form of distress. Although depressive and anxiety symptoms did not change from Time 1 to Time 2 on average, higher levels of COVID-related distress was associated with an increase in depressive and anxiety symptoms between Time 1 and Time 2. In addition, women and those who reported higher anxiety symptoms before the pandemic were more likely to report some form of COVID-related distress. The findings suggest that as this global crisis continues to unfold, it will be critical to ensure that adults with autism spectrum disorder who were experiencing mental health challenges prior to the pandemic receive appropriate monitoring. Lay abstract This study used data collected from 275 adults in the United States with autism spectrum disorder both before the pandemic and then 10 weeks into the pandemic to assess COVID-19-related distress and its impact. Two-thirds of those surveyed reported some type of distress related to the pandemic (i.e. difficulty coping or negative impact on emotional and mental health). While there were no changes in depressive and anxiety symptoms from prior to COVID-19 to 10 week later in the group as a whole, self-reported distress predicted increases in both anxiety and depression across the two timepoints. Furthermore, adults with higher levels of anxiety prior to the pandemic were more likely to report distress, and women were more likely to report a negative impact of the pandemic on their emotional and mental health. Findings highlight the importance of monitoring with adults with autism spectrum disorder to assess their need for mental health support, and providing ongoing support to those who already experience anxiety even before the pandemic.

To better understand the associations between social activities and depressive symptoms in adolescents and young adults with autism spectrum disorder, this study utilized interpersonal theories of depression by accounting for both frequency of various social activities and perceptions of how well their time spent in these activities meet their needs and testing the indirect effects of loneliness in this association. To test these ideas, 321 participants who were recruited from the Simons Foundation Powering Autism Research for Knowledge (SPARK) research match registry and completed online measures of social activities, depressive symptoms, and loneliness. While the specific pattern was different for individual activities, it was found that those who felt that their current frequency of activities did not meet their needs had higher rates of depressive symptoms than those who felt they did meet their needs and that loneliness help to understand the indirect effects of the association between social activities and depressive symptoms. Overall, the findings suggest that how individuals feel about the time they are spending in social activities, such as with friends and in general social activities, could impact outcomes such as depression and loneliness. Lay Abstract Previous studies have found that social activities and depressive symptoms in adolescents and young adults with autism spectrum disorder are related. To better understand the relationship between these issues, this study examined the frequency of various types of social activities as well as if the participants felt that the frequency of time spent in the activity met their personal needs. In addition, the role of loneliness was tested as a possible way to understand the relationship between activities and depressive symptoms. To test these ideas, 321 participants who were recruited from the Simons Foundation Powering Autism Research for Knowledge (SPARK) research match registry and completed online measures of social activities, depressive symptoms, and loneliness. While the specific pattern was different for individual activities, it was found that those who felt that their current frequency of activities did not meet their needs had higher rates of depressive symptoms than those who felt they did meet their needs. Also, loneliness helps to understand relationship between social activities and depressive symptoms. The findings were discussed in light of previous study findings, interpersonal theories of depression, and clinical implications.

The performance of most speaker diarization systems with x-vector embeddings is both vulnerable to noisy environments and lacks domain robustness. Earlier work on speaker diarization using generative adversarial network (GAN) with an encoder network (ClusterGAN) to project input x-vectors into a latent space has shown promising performance on meeting data. In this paper, we extend the ClusterGAN network to improve diarization robustness and enable rapid generalization across various challenging domains. To this end, we fetch the pre-trained encoder from the ClusterGAN and fine-tune it by using prototypical loss (meta-ClusterGAN or MCGAN) under the meta-learning paradigm. Experiments are conducted on CALLHOME telephonic conversations, AMI meeting data, DIHARD II (dev set) which includes challenging multi-domain corpus, and two child-clinician interaction corpora (ADOS, BOSCC) related to the autism spectrum disorder domain. Extensive analyses of the experimental data are done to investigate the effectiveness of the proposed ClusterGAN and MCGAN embeddings over x-vectors. The results show that the proposed embeddings with normalized maximum eigengap spectral clustering (NME-SC) back-end consistently outperform Kaldi state-of-the-art z-vector diarization system. Finally, we employ embedding fusion with x-vectors to provide further improvement in diarization performance. We achieve a relative diarization error rate (DER) improvement of 6.67% to 53.93% on the aforementioned datasets using the proposed fused embeddings over x-vectors. Besides, the MCGAN embeddings provide better performance in the number of speakers estimation and short speech segment diarization as compared to x-vectors and ClusterGAN in telephonic data., Comment: Submitted to IEEE/ACM TRANSACTIONS ON AUDIO SPEECH AND LANGUAGE PROCESSING

ImportanceHeterogeneous mental health outcomes during the COVID-19 pandemic are recognized in the general population, but it has not been systematically assessed in youth with neurodevelopmental disorders (NDD), including autism spectrum (ASD).ObjectiveIdentify subgroups of youth with ASD/NDD based on the pandemic impact on symptoms and service changes, as well as predictors of outcomes.Design, Setting, and ParticipantsThis is a naturalistic observational study conducted across 14 North American and European clinical and/or research sites. Parent responses on the Coronavirus Health and Impact Survey Initiative (CRISIS) adapted for Autism and Related Neurodevelopmental Conditions (AFAR) were cross-sectionally collected from April to October 2020. The sample included 1275, 5-21 year-old youth with ASD and/or NDD who were clinically well-characterized prior to the pandemic.Main Outcomes and MeasuresTo identify impact subgroups, hierarchical clustering analyzed eleven AFAR factors measuring pre- to pandemic changes in clinically relevant symptoms and service access. Random forest classification assessed the relative contribution in predicting subgroup membership of 20 features including socio-demographics, pre-pandemic service, and clinical severity along with indices of COVID-19 related experiences and environments empirically-derived from AFAR parent responses and global open sources.ResultsClustering analyses revealed four ASD/NDD impact subgroups. One subgroup - broad symptom worsening only (20% of the aggregate sample) - included youth with worsening symptoms that were above and beyond that of their ASD/NDD peers and with similar service disruptions as those in the aggregate average. The three other subgroups showed symptom changes similar to the aggregate average but differed in service access: primarily modified services (23%), primarily lost services (6%), and average services/symptom changes (53%). Pre-pandemic factors (e.g., number of services), pandemic environments and experiences (e.g., COVID-19 cases, related restrictions, COVID-19 Worries), and age emerged in unique combinations as distinct protective or risk factors for each subgroup. Together they highlighted the role of universal risk factors, such as risk perception, and the protective role of services before and during the pandemic, in middle childhood.Conclusions and RelevanceConcomitant assessment of changes in both symptoms and services access is critical to understand heterogeneous impact of the pandemic on ASD/NDD youth. It enabled the delineation of pathways to risk and resilience that include universal and ASD/NDD specific contributors.

Children with autism spectrum disorder (ASD) have varying degrees of language impairment across multiple domains, which may include deficits in syntactic, pragmatic, and/or semantic skills. The heterogeneity of language profiles within ASD, coupled with the limited scope of existing standardized language measures, makes a comprehensive assessment of language impairments in ASD challenging. The Observation of Spontaneous Expressive Language (OSEL) is a new measure developed to capture children's spontaneous use of language in a naturalistic setting. The current study used the OSEL to examine the patterns of spontaneous expressive language abilities of 87 clinically ascertained children with ASD from 2 to 12 years. As expected, children with ASD were significantly more impaired in their spontaneous use of language compared to typically developing peers. Syntax and narrative skills continued to increase with age from toddler to elementary school years in cross-sectional comparisons. Pragmatic skills improved form toddler to preschool years but remained stable from preschool to elementary school years. Preliminary data also demonstrated significant improvements in OSEL syntax scores over time for a subset of children followed longitudinally (n = 8). Children with ASD consistently showed more impairments in spontaneous expressive language captured on the OSEL compared to language skills measured by other more structured standardized assessments, despite moderate convergent validity among those measures. Results suggest that impairments in the spontaneous and functional use of expressive language persist into middle childhood for many children with ASD, and a comprehensive assessment approach can lead to more precisely targeted treatment addressing specific language profiles. LAY SUMMARY: This study aimed to examine the variable language profiles in children with ASD. Children with ASD were shown to have impairments in the structure, meaning, and social use of language. These challenges were captured best by a measure that was created to assess the spontaneous use of language in a naturalistic environment. The results of this study emphasize the importance of a comprehensive assessment of language in ASD to inform treatment. Autism Res 2021, 14: 720-732. © 2020 International Society for Autism Research and Wiley Periodicals LLC.

The goal of the current study was to test associations between various ASD-related behavior problems and negative peer experiences in adolescents with ASD. Data were obtained from the Bullying and School Experiences of Children with ASD Survey completed by parents in the Interactive Autism Network (IAN). The current study focused on data from 279 parents of 7th-11th graders with ASD who spent at least half of the school day in a general education setting. Logistic regression analyses found that frequent meltdowns, poor hygiene, rigid rule-keeping, and self-injury were associated with negative peer experiences. Surprisingly, repetitive behaviors and verbal tics were associated with a lower likelihood of experiencing verbal victimization.

Studies have shown that Autism Spectrum Disorder (ASD) screening and diagnostic instruments may be affected by the presence of emotional and behavior problems (EBPs). This study assessed the impact of EBPs on the Modified Checklist for Autism in Toddlers, Revised with Follow-up (M-CHAT-R/F). Participants included 290 children, 18–48 months of age, referred for ASD-related concerns. Those diagnosed with ASD had significantly lower externalizing EBPs compared to those who were not diagnosed with ASD. More externalizing symptoms and younger age were significantly predictive of an M-CHAT-R/F final score. Sensitivity and specificity was impacted by the age of the child. These results suggest that combining measures that assess EBPs and autism core symptoms may improve accuracy in this referred population.

Autistic individuals are at an increased risk for both sleep disturbances and depression. While studies in the general population and in autistic adults have drawn general links between sleep disturbances and mental health, few studies have examined the extent to which specific sleep problems may be implicated in the extremely high rates of depression among autistic adults. This study aimed to describe the patterns of sleep disturbances in autistic young adults, and their associations with depressive symptoms while controlling for relevant demographic factors. A sample of 304 legally independent adults (age 18-35 years old) with a childhood diagnosis of autism spectrum disorder self-reported on their average sleep behaviors during the past week and depressive symptoms on the Beck Depressive Inventory-II. A significant proportion (86.01%) of autistic young adults experienced at least one of the primary sleep disturbances of interest, including short total sleep time (39.59%), poor sleep efficiency (60.07%), and delayed sleep phase (36.18%). Additionally, lower sleep efficiency and delayed sleep phase were both associated with higher depressive symptoms. The associations between sleep and depressive symptoms identified in our study suggest that sleep treatments may hold potential for ameliorating depressive symptoms in autistic adults who also experience sleep problems. Further research using daily sleep diaries and objective measures of sleep behaviors, as well as longitudinal studies, are needed to understand how changes in sleep may relate to changes in depressive symptoms in autistic adults.

Objective To identify and summarize clinical practice guidelines for autism spectrum disorder (ASD) and intellectual disability (ID) for the Package of Interventions for Rehabilitation for the World Health Organization (WHO). Data Sources Academic databases, Google Scholar, guideline databases, and professional society websites were searched using the general criteria “ASD/ID” AND “rehabilitation” AND “guideline,” restricted to English-only guidelines. Study Selection Work group members independently screened titles and abstracts (1952 ASD; 1027 ID) and excluded articles if not (1) a guideline; (2) about rehabilitation; (3) published since 2008; or (4) about ASD/ID. Full-text screening (29 ASD; 5 ID) involved 3 additional exclusion criteria: (1) contained conflict of interest; (2) lacked information on strength of recommendation; or (3) failed the Appraisal of Guidelines for Research and Evaluation II instrument. Six guidelines (4 ASD: 2 on youth, 1 on adults, 1 on all ages; 2 ID: 1 on challenging behaviors, 1 on mental health) resulted. Data Extraction Work group members extracted 524 recommendations (386 ASD; 138 ID) from the guidelines including the level of evidence, diagnostic and age group, recommendation type (assessment, intervention, service), target, and valence. Data Synthesis Of the 270 intervention recommendations (212 ASD; 58 ID), only 36 for ASD and 47 for ID were empirically based. Most comprised biomedical (23%), pharmacologic (29%), and psychosocial (21%) interventions for ASD and behavioral (14%), pharmacologic (29%), and psychological (14%) interventions for ID. Intervention recommendations primarily targeted coexisting conditions (56% ASD; 93% ID), whereas core symptoms received much less attention (26% ASD). Conclusions Clinical practice guidelines reviewed for ASD and ID primarily contained recommendations based on expert opinion, with the plurality of recommendations relating to pharmacologic treatment. Vital next steps include identifying relevant interventions for inclusion in the WHO Package and continuing to conduct rigorous intervention research, particularly on core symptoms of these conditions, to extend recommendations for high-quality guidelines.

OBJECTIVE: Autism spectrum disorder (ASD) is currently considered an early-onset, neurodevelopmental condition. Follow-up studies of clinic-ascertained autism suggest that autistic symptoms typically decline with age, although symptom improvement is limited for some. To date there have been no population-based prospective studies investigating the natural history of autistic symptoms from childhood to adulthood. This study aimed to characterize the development and heterogeneity of autistic symptoms in a UK population-based cohort from childhood to age 25 years. METHOD: Data were analyzed in a prospective UK population-based cohort (ALSPAC). Trajectories were derived using five-assessments of parentrated Social Communication Disorders Checklist (SCDC) spanning ages 7-25 years. Additional measures were used to validate symptom trajectories. RESULTS: We identified three distinct SCDC trajectory classes: low (88.5%), declining (5.0%) and late‐emerging (6.5%). Both the declining and late-emerging classes were associated with child and adult ASD measures, low IQ, communication problems, peer problems and worse adult functioning, compared to the low class. Male sex was associated with an increased likelihood of being in the declining trajectory class (OR=2.84, 95% CI=2.19-3.69). This sex difference was not observed in the late-emerging group (OR=1.00, 95% CI=0.80-1.24) compared to the low class. CONCLUSIONS: ASD symptom levels emerged early and tended to decline across development although impairment was still present in adulthood for some. For others, autistic symptoms emerged across adolescence and adulthood. This challenges our current understanding that ASD symptoms inevitably first manifest early in development.

The importance of extensive genetic testing of autism spectrum disorder (ASD) cases has been demonstrated repeatedly in research settings but such testing in clinical settings remains sporadic. Determining which individuals should be prioritized for expensive tests remains a challenge. Several guidelines have been released relating to clinical genetic evaluations and testing in the context of ASD and these guidelines may be informed by the results of genetic testing in large research cohorts. The current study summarizes findings from over 2,000 individuals with ASD who received genetic testing, including microarray and exome testing, through the Simons Simplex Consortium. A returnable genetic result is identified in 10% of cases, however, this yield increases based on four readily accessible phenotypes: female sex and the presence of intellectual disability, seizures or delayed walking. Combinations of these factors increase return rate further, with some combinations yielding a return rate over 50%. In conclusion, these four phenotypes provide a simple approach to prioritize genetic testing in a clinical setting and inform future clinical guidelines. Providing a systematic approach to decisions about who to test removes barriers for, and therefore decrease disparities in, reimbursable genetic testing for individuals diagnosed with ASD.

Objective Social communication deficits associated with autism spectrum disorder (ASD) are commonly represented as a single behavioral domain. However, increased precision of measurement of social communication is needed to promote more nuanced phenotyping, both within the autism spectrum and across diagnostic boundaries. Method A large sample (N = 1,470) of 4- to 10-year-old children was aggregated from across 4 data sources, and then randomly split into testing and validation samples. A total of 57 selected social communication items from 3 widely used autism symptom measures (the Autism Diagnostic Observation Scale [ADOS], Autism Diagnostic Interview−Revised [ADI-R], and Social Responsiveness Scale [SRS]) were analyzed in the multi-trait/multi-method factor analysis framework. The selected model was then confirmed with the validation sample. Results The 4−substantive factor model, with 3 orthogonal method factors, was selected using the testing sample based on fit indices and then confirmed with the validation sample. Two of the factors, “Basic Social Communication Skills” and “Interaction Quality,” were similar to those identified in a previous analysis of the ADOS, Module 3. Two additional factors, “Peer Interaction and Modification of Behavior” and “Social Initiation and Affiliation,” also emerged. Factor scores showed nominal correlations with age and verbal IQ. Conclusion Identification of subdimensions could inform the creation of better conceptual models of social communication impairments, including mapping of how the cascading effects of social communication deficits unfold in ASD versus other disorders. Especially if extended to include both older and younger age cohorts and individuals with more varying developmental levels, these efforts could inform phenotype-based exploration for biological and genetic mechanisms by pinpointing specific mechanisms that contribute to various types of social communication deficits.

Machine learning (ML) models have demonstrated the power of utilizing clinical instruments to provide tools for domain experts in gaining additional insights toward complex clinical diagnoses. In this context these tools desire two additional properties: interpretability, being able to audit and understand the decision function, and robustness, being able to assign the correct label in spite of missing or noisy inputs. This work formulates diagnostic classification as a decision-making process and utilizes Q-learning to build classifiers that meet the aforementioned desired criteria. As an exemplary task, we simulate the process of differentiating Autism Spectrum Disorder from Attention Deficit-Hyperactivity Disorder in verbal school aged children. This application highlights how reinforcement learning frameworks can be utilized to train more robust classifiers by jointly learning to maximize diagnostic accuracy while minimizing the amount of information required.

Differential diagnosis of autism is very complex. Best practice guidelines in the US encourage the use of specialized tools by a highly trained provider. The need for this comprehensive evaluation, coupled with the increase in autism prevalence and awareness, has led to alarmingly long wait times for diagnostic evaluations. Several solutions are currently being researched to remedy this problem and relieve the pressure, including testing new devices or procedures that can speed up the diagnostic process. Creative solutions are welcomed; however, we urge caution in the use of new devices and methods without being fully vetted. Moreover, a quality assessment provides much more than just a designation of whether or not autism is present. Thus, even in cases when alternative means could be used to more quickly arrive at a diagnosis, a comprehensive assessment with a trained clinician is needed to guide recommendations and ongoing care.

BACKGROUND: Recent large-scale initiatives have led to systematically collected phenotypic data for several rare genetic conditions implicated in autism spectrum disorder (ASD). The onset of developmentally expected skills (e.g. walking, talking) serve as readily quantifiable aspects of the behavioral phenotype. This study’s aims were: (a) describe the distribution of ages of attainment of gross motor and expressive language milestones in several rare genetic conditions, and (b) characterize the likelihood of delays in these conditions compared with idiopathic ASD. METHODS: Participants aged 3 years and older were drawn from two Simons Foundation Autism Research Initiative registries that employed consistent phenotyping protocols. Inclusion criteria were a confirmed genetic diagnosis of one of 16 genetic conditions (Simons Searchlight) or absence of known pathogenic genetic findings in individuals with ASD (SPARK). Parent-reported age of acquisition of three gross motor and two expressive language milestones was described and categorized as on-time or delayed, relative to normative expectations. RESULTS: Developmental milestone profiles of probands with genetic conditions were marked by extensive delays (including nonattainment), with highest severity in single gene conditions and more delays than idiopathic ASD in motor skills. Compared with idiopathic ASD, the median odds of delay among the genetic groups were higher by 8.3 times (IQR 5.8–16.3) for sitting, 12.4 times (IQR 5.3–19.5) for crawling, 26.8 times (IQR 7.7–41.1) for walking, 2.7 times (IQR 1.7–5.5) for single words, and 5.7 times (IQR 2.7–18.3) for combined words. CONCLUSIONS: Delays in developmental milestones, particularly in gross motor skills, are frequent and may be among the earliest indicators of differentially affected developmental processes in specific genetically defined conditions associated with ASD, as compared with those with clinical diagnoses of idiopathic ASD. The possibility of different developmental pathways leading to ASD-associated phenotypes should be considered when deciding how to employ specific genetic conditions as models for ASD.

BackgroundSeveral recent initiatives have sought to better understand characteristic behaviors of rare genetic conditions associated with autism spectrum disorder (ASD). The onset of developmentally expected skills, such as walking and talking, serve as readily quantifiable aspects of the behavioral phenotype. The goals of this study were to describe attainment of major motor and language milestones in genetic conditions implicated in the etiology of ASD and other neurodevelopmental disorders and to compare those phenotypes to idiopathic ASD.MethodsParticipants ages 3 years and older were drawn from two Simons Foundation Autism Research Initiative-funded registries with consistent phenotyping protocols. Inclusion criteria consisted of a confirmed genetic diagnosis for one of 16 specific genetic conditions (Simons Searchlight), and absence of pathogenic genetic findings in idiopathic ASD controls (SPARK). Parent-reported age of acquisition of three motor and two language milestones was described and quantified as on-time or delayed relative to normative expectations.ResultsDelay was more common among participants with rare genetic conditions than idiopathic ASD for all milestones. Compared to the idiopathic ASD group, the median odds of delay among the genetic groups were 8.3 times (IQR 5.8-16.3) higher for sitting, 12.4 times (IQR 5.3-19.5) higher for crawling, 26.8 times (IQR 7.7-41.1) higher for walking, 2.7 times (IQR 1.7-5.5) higher for single words, and 5.7 times (IQR 2.8-18.3) higher for combined words.ConclusionDelays in major developmental milestones, particularly in motor skills, may be among the earliest clues that developmental processes may be differentially affected in specific genetically defined conditions versus a behaviorally defined disorder such as idiopathic ASD.

Current conceptualizations of social competency often focus on value judgments (e.g., appropriateness) that are influenced by a combination of individual and environmental factors, such as a social partner’s understanding of autism. We posit that social performance is an understudied, but critical contributor to adult social functioning and present the Application of Skills and Knowledge (ASK) model to stimulate research in this area. The ASK model aims to separate social performance from other factors that may promote or adversely impact social functioning, therefore allowing for identification of treatment targets that do not solely rest on the individual. This framework can be used to accelerate future instrument and intervention development efforts to support well-being and community participation for autistic adults.

Currently available treatments for depression show limited effectiveness in adults with autism spectrum disorders (ASD) based on measures of symptom changes and clinician impressions. Perceived helpfulness is another metric that has been found to be useful for understanding treatment outcomes in the general population, but it has not yet been explored in adults with ASD. Thus, the current study collected online survey data to examine patient-perceived treatment helpfulness in a sample of 144 adults with ASD who reported that they were currently receiving community-based treatment for depression. Findings indicate that while there was variability in the levels of perceived helpfulness for both medication and individual therapy, most adults with ASD perceived treatment to be at least moderately helpful. Notably, adults with ASD reported having been in treatment for a prolonged duration (5 to 6 years). Ordinal logistic regression models showed that adults with more depressive symptoms perceived treatments to be less helpful (i.e., medications: odds ratio [OR] = 0.92, 95% confidence interval[CI] = 0.89-0.95; individual therapy: OR = 0.95, 95% CI = 0.92-0.99). Moreover, women perceived medication as more helpful than men (OR = 2.33, 95% CI = 1.13-4.82). Other individual (i.e., age, race, education level) and treatment (i.e., treatment length, concurrent treatment) characteristics were not significantly associated with perceived helpfulness. These findings suggest that future studies may want to use perceived helpfulness, in addition to traditionally used objective outcomes, to understand patients' treatment experience and evaluate depression treatments for adults with ASD. LAY SUMMARY: Adults with autism are much more likely to be depressed than those without autism; therefore, effective depression treatments are necessary to improve mental health outcomes in this group. This online survey study found that most adults with autism felt that the depression treatments they were receiving in the community (i.e., medication and individual therapy) were helpful. Females and those with fewer symptoms of depression felt treatments were more helpful compared with males and those with more symptoms of depression. Our findings suggest that when examining whether treatments for depression are effective, it may be important to measure adults' feelings about the helpfulness of the treatments in addition to measuring changes in symptoms of depression.

Symptoms of autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) often co-occur, challenging timely and accurate diagnosis. We assessed the performance of three parent-report measures in discriminating ASD from ADHD without ASD (ADHDw/oASD) in school-age verbally fluent children. We examined the Autism Symptom Interview (ASI) School-Age and two widely used parent questionnaires: Social Responsiveness Scale-2nd Edition (SRS-2) and Social Communication Questionnaire-Lifetime (SCQ-L). Receiver operating characteristic curves assessed each instrument’s performance against the best-estimate clinician DSM-5 diagnosis of ASD or of ADHDw/oASD (n=74, n=102, respectively; 6-11 years). These yielded moderate accuracies: AUC=0.85, 0.79, 0.78 for SCQ-L, ASI, SRS-2, respectively. AUC pairwise comparisons reached our statistical significance (p

Objective: Approximately 50% of children with autism exhibit severe tantrums, defiance, and/or aggression. We propose that the Disruptive Behavior Diagnostic Observation Schedule (DB-DOS)-a standardized clinical observation modeled after, and complementary to, the Autism Diagnostic Observation Schedule (ADOS)-could enhance earlier identification of disruptive behavior (DB) in autism populations and inform treatment planning. Methods: We adapted the DB-DOS for children with autism based on expert input and preliminary feasibility testing to accommodate varying cognitive and social communication capacities and increase the likelihood of observing DB in this population. Thereafter, we concurrently administered the modified DB-DOS and the ADOS to 12 children with autism aged 36 to 50 months. Results: Overall, children exhibited greater DB, especially behavioral regulation challenges, during the DB-DOS than during the ADOS. Conclusion: The use of a developmentally sensitive standardized observation tool that presses for DB to complement standardized observations such as the ADOS shows promise for enabling more precise research on targeted DB interventions. Such a tool holds promise as a reliable and efficient method of identifying comorbid DB disorders in the autism population.

Supplemental material, sj-docx-1-aut-10.1177_13623613211008276 for Depression in independent young adults on the autism spectrum: Demographic characteristics, service use, and barriers by Shuting Zheng, Ryan Adams, Julie Lounds Taylor, Florencia Pezzimenti and Somer L Bishop in Autism

Objective Children in Flint, Michigan, have experienced myriad sociodemographic adversities exacerbated by the Flint water crisis. To help inform child-focused prevention and intervention efforts, we aimed to describe patterns of neurodevelopmental outcomes among preschoolers who experienced the Flint water crisis before age 2 years. Method Participants were 170 preschoolers who completed a comprehensive neurodevelopmental assessment battery, including directly administered measures of cognitive and executive functioning and maternal-report of adaptive skills and behavioral problems. We used latent profile analysis to derive subgroups. Multivariate multinomial logistic regression was conducted to examine the predictors of profile memberships, including child sex and maternal/family-level factors selected from an array of measured exposures using least absolute shrinkage and selection operator regression. Results Three latent profiles were identified: Profile 1—relative weakness in all domains (50%); Profile 2—normative functioning in all domains (34.1%); and Profile 3—relative strengths in executive function and behavior (15.9%). Profile 1 showed lower scores across cognitive and behavioral domains. Profile 2 demonstrated abilities within the normal range across domains. Profile 3 showed relative strength in executive functioning with few behavior problems, despite lower cognitive performance. Children across all profiles showed adaptive behavior in the adequate range. Child sex and maternal IQ were significant predictors of profile membership. Conclusions Children in Flint demonstrated diverse patterns of development in the face of sociodemographic and environmental adversities. Comprehensive screening and neurodevelopmental profiling of children in this at-risk population are needed to identify areas of needs and inform appropriate service delivery.

BackgroundDelayed walking is common in intellectual disability (ID) but may be less common when ID occurs with autism spectrum disorder (ASD). Previous studies examining this were limited by reliance on clinical samples and exclusion of children with severe motor deficits.ObjectiveTo examine in a population-based sample if age of walking is differentially related to intellectual ability in children with ASD versus other neurodevelopmental disorders (NDD).MethodsParticipants were from the nested Autism Birth Cohort Study of the Norwegian Mother, Father and Child Cohort Study (MoBa). Cox proportional hazards regression assessed if diagnosis (ASD n=212 vs. NDD n=354), continuous nonverbal IQ, and their interaction, were associated with continuous age of walking.ResultsThe relationship between nonverbal IQ and age of walking was stronger for NDD than for ASD (Group×nonverbal IQ interaction, χ2 =13.93, p=.0002). This interaction was characterized by a 21% decrease in the likelihood of walking onset at any given time during the observation period per 10-point decrease in nonverbal IQ (hazard ratio=0.79, 95% CI: 0.78-0.85) in the NDD group compared to 8% (hazard ratio=0.92, 95% CI: 0.86-0.98) in the ASD group.ConclusionsThe finding that age of walking is less strongly related to low intellectual ability in children with ASD than in children without other NDDs supports the hypothesis that ID in ASD may result from heterogeneous developmental pathways. Late walking may be a useful stratification variable in etiological research focused on ASD and other NDDs.

Expressive language impairment is one of the most frequently associated clinical features of 16p11.2 copy number variations (CNV). However, our understanding of the language profiles of individuals with 16p11.2 CNVs is still limited. This study builds upon previous work in the Simons Variation in Individuals Project (VIP, now known as Simons Searchlight), to characterize language abilities in 16p11.2 deletion and duplication carriers using comprehensive assessments. Participants included 110 clinically ascertained children and family members (i.e., siblings and cousins) with 16p11.2 BP4-BP5 deletion and 58 with 16p11.2 BP4-BP5 duplication between the ages of 2-23 years, most of whom were verbal. Regression analyses were performed to quantify variation in language abilities in the presence of the 16p11.2 deletion and duplication, both with and without autism spectrum disorder (ASD) and cognitive deficit. Difficulties in pragmatic skills were equally prevalent in verbal individuals in both deletion and duplication groups. NVIQ had moderate quantifiable effects on language scores in syntax and semantics/pragmatics (a decrease of less than 1 SD) for both groups. Overall, language impairments persisted even after controlling for ASD diagnosis and cognitive deficit. Language impairment is one of the core clinical features of individuals with 16p11.2 CNVs even in the absence of ASD and cognitive deficit. Results highlight the need for more comprehensive and rigorous assessment of language impairments to maximize outcomes in carriers of 16p11.2 CNVs.

International audience; We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate of 0.1 or less. Of these genes, 49 show higher frequencies of disruptive de novo variants in individuals ascertained to have severe neurodevelopmental delay, whereas 53 show higher frequencies in individuals ascertained to have ASD; comparing ASD cases with mutations in these groups reveals phenotypic differences. Expressed early in brain development, most risk genes have roles in regulation of gene expression or neuronal communication (i.e., mutations effect neurodevelopmental and neurophysiological changes), and 13 fall within loci recurrently hit by copy number variants. In cells from the human cortex, expression of risk genes is enriched in excitatory and inhibitory neuronal lineages, consistent with multiple paths to an excitatory-inhibitory imbalance underlying ASD.

There is relatively little information about prospectively reported developmental milestones from caregivers of children who go on to be diagnosed with neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD). The current study examined rates of early skill attainment in 5-year-old children who participated in a comprehensive in-person assessment for NDDs in Hirosaki in Japan. Developmental milestone data were extracted from their Maternal and Child Health Handbook (MCHH), a booklet distributed to all pregnant women as part of universal health care. Seven hundred and twenty children underwent the assessment, among whom 455 received one or more NDD diagnoses (ASD: n = 124, non-ASD NDD: n = 331). Developmental skills were organized into four domains (motor, social interaction, communication, self-help), and the cumulative number of potential delays in each domain was calculated for each participant within three different age ranges (by 12 months, by 24 months, and by 36 months). Even by age 12 months, children with ASD/NDDs showed more potential delays across domains compared to those who received no NDD diagnosis. However, differences between those with ASD and those with non-ASD NDDs were not apparent until 24 months for social interaction and communication, and 36 months for self-help. These findings provide insights into specific behaviors that could be used to screen for ASD and other NDDs. In addition, the present study indicates the potential utility of the MCHH as a broadband screening tool to educate parents about what to look for in charting their child's early development. LAY SUMMARY: The present study examined prospectively charted developmental milestones from home-based records used as part of universal health care in 720 5-year-old children from Hirosaki, Japan. All children participated in a comprehensive evaluation to determine if they met criteria for a neurodevelopmental disorder (NDD), including autism spectrum disorder (ASD). Compared to those who received no NDD diagnosis, children with NDDs exhibited higher rates of potential delays across developmental domains, including social interaction, communication, and self-help. For some children, these delays were apparent before the age of 12 months. Differences between diagnostic groups became even more pronounced by 24 and 36 months, well before the average age of diagnosis. This suggests that home-based records can be useful tools to educate caregivers about what to look for in charting their child's early development and could assist with early screening efforts.