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Abstract Background Canonical babbling—producing syllables with a mature consonant, full vowel, and smooth transition—is an important developmental milestone that typically occurs in the first year of life. Some studies indicate delayed or reduced canonical babbling in infants at high familial likelihood for autism spectrum disorder (ASD) or who later receive an ASD diagnosis, but evidence is mixed. More refined characterization of babbling in the first year of life in infants with high likelihood for ASD is needed. Methods Vocalizations produced at 6 and 12 months by infants (n = 267) taking part in a longitudinal study were coded for canonical and non-canonical syllables. Infants were categorized as low familial likelihood (LL), high familial likelihood diagnosed with ASD at 24 months (HL-ASD) or not diagnosed (HL-Neg). Language delay was assessed based on 24-month expressive and receptive language scores. Canonical babble ratio (CBR) was calculated by dividing the number of canonical syllables by the number of total syllables. Generalized linear (mixed) models were used to assess the relationship between group membership and CBR, controlling for site, sex, and maternal education. Logistic regression was used to assess whether canonical babbling ratios at 6 and 12 months predict 24-month diagnostic outcome. Results No diagnostic group differences in CBR were detected at 6 months, but HL-ASD infants produced significantly lower CBR than both the HL-Neg and LL groups at 12 months. HL-Neg infants with language delay also showed reduced CBR at 12 months. Neither 6- nor 12-month CBR was significant predictors of 24-month diagnostic outcome (ASD versus no ASD) in logistic regression. Limitations Small numbers of vocalizations produced by infants at 6 months may limit the reliability of CBR estimates. It is not known if results generalize to infants who are not at high familial likelihood, or infants from more diverse racial and socioeconomic backgrounds. Conclusions Lower canonical babbling ratios are apparent by the end of the first year of life in ASD regardless of later language delay, but are also observed for infants with later language delay without ASD. Canonical babbling may lack specificity as an early marker when used on its own.

Abstract Background Restricted and repetitive behavior (RRB) is one of the characteristic features of Autism Spectrum Disorder. This domain of symptoms includes a broad range of behaviors. There is a need to study each behavior individually to better understand the role of each in the development of autistic children. Moreover, there are currently no longitudinal studies investigating change in these behaviors over development. Methods The goal of the present study was to explore the association between age and non-verbal IQ (NVIQ) on 15 RRB symptoms included in the Autism Diagnostic Interview-Revised (ADI-R) over time. A total of 205 children with ASD were assessed using the ADI-R at time of diagnosis, at age 6 years, and at age 11 years, and with the Wechsler Intelligence Scales for Children—Fourth Edition (WISC-IV) at age 8 years. Results The proportion of children showing each RRB tended to diminish with increasing age, except for sensitivity to noise and circumscribed interests, where the proportion increased over time. Although there was no significant main effect of NVIQ, there was a significant interaction between age and NVIQ. This was mainly driven by Difficulties with change in routine, for which higher NVIQ was associated with the behavior remaining relatively stable with age, while lower NVIQ was associated with the behavior becoming more prevalent with age. Limitations The study focused on the presence/absence of each RRB but did not account for potential changes in frequency or severity of the behaviors over development. Furthermore, some limitations are inherent to the measures used. The ADI-R relies on parent report and hence has some level of subjectivity, while the Wechsler intelligence scales can underestimate the intellectual abilities of some autistic children. Conclusions These results confirm that specific RRB are differentially linked to age and NVIQ. Studying RRB individually is a promising approach to better understanding how RRB change over the development of autistic children and are linked to other developmental domains.

Siblings of those with autism spectrum disorder (ASD) have increased likelihood of ASD or related subclinical traits. Here, studying 253 ASD families, D’Abate et al. test the predictive value of genomic copy number variation involving ASD-associated loci, with confirmation in a second cohort.

Objectives: Emotional dysregulation is a common and debilitating problem for autistic children and their families. However, we know little about early-onset patterns of dysregulation, associated risk factors, and child and family outcomes. We aimed to characterize trajectories of emotional dysregulation in an inception cohort of autistic preschoolers., Method: Caregivers reported on the emotional dysregulation of 396 autistic children using the Aberrant Behavior Checklist (ABC) irritability and hyperactivity scales at 6 timepoints from shortly after ASD diagnosis (ages 2-4 years) to pre-adolescence (10-11 years). Covariance pattern mixture modeling was used to characterize the number and shape of latent dysregulation trajectories that best fit underlying data. Child and family correlates were measured at baseline and ages 10-11 years to characterize early risk factors and pre-adolescent profiles associated with distinct latent trajectories., Results: Three distinct trajectory classes best fit the data: persistently self-regulated (18% of sample); moderate and declining (54%), and persistently dysregulated (28%). Children classified in the persistently dysregulated trajectory lived with more depressed caregivers and in families reporting greater relationship problems and lower household incomes compared to lower-risk trajectories. Few associations were found with baseline child characteristics. Persistent dysregulation problems were associated with significantly worse child mental health and functional outcomes during pre-adolescent years., Conclusion: Risk of persistent severe emotional dysregulation may be identifiable at time of early autism diagnosis. Diagnostic assessments should include contextual risk factors and links to evidence-based family supports and interventions., (Copyright © 2024. Published by Elsevier Inc.)

Although autism is highly prevalent, no single care center has enough patients to produce generalizable knowledge of optimal care; this slows the pace of quality improvement research. The Autism Care Network (ACNet) is a learning health network (LHN) dedicated to developing the most effective approach to care for autistic children and adolescents through integrating clinical and research data. Given that most autistic patients receive care in the community, expanding ACNet to include community providers is essential to improve autism care. Our objectives were to: (1) understand the current data collection practices, learning needs, capacity, and overall interest of community clinicians in participating in an autism LHN; (2) identify their perspectives on participating in a LHN and ways in which their engagement and interest can be cultivated. Participants were purposively sampled from community physicians who participated in ASD-focused educational programming. In-depth semi-structured interviews were conducted. Analysis of 29 participant interviews yielded five primary themes: Navigating Administrative Challenges, Improving Data Collection Practices, Increasing Provider Confidence and Competence, Breaking Down Silos, and System and Societal Barriers to Achieving Best Practices. This study provides a rich and nuanced understanding of the experiences of community providers regarding the challenges of ASD care provision in the community. Overall, these findings suggest that LHNs have the potential to address several of the issues in community autism care highlighted by community providers., Competing Interests: Declarations Conflict of Interest The authors have no interests to declare that are relevant to the content of this article., (© 2024. The Author(s).)

Currently there is a severe lack of research on autism and Indigenous people in Canada. This scoping review explores this literature gap and assesses the same literature from an Indigenous perspective. Scoping reviews are an effective means to explore the literature in a specific area, in this case, autism and Indigenous people in Canada. We explored existing literature as it pertains to Indigenous populations and autism in Canada. To support this review, the Indigenous Quality Assessment Tool (QAT) was adapted to appraise the quality of literature. In total, there were a total of 212 articles identified of which 24 met the inclusion criteria: (1) some focus on autism, (2) a component specific to Indigenous people, and (3) specific to Canada. Of the 24 articles and reports, 15 were peer-reviewed and the rest considered grey literature. Most articles focused on program delivery with some literature using primary data (quantitative and/or qualitative). Overall, the quality of the research was appraised as poor, as determined by the QAT. Findings reaffirm the critical need for research that addresses autism in Indigenous communities within Canada and show the importance of having research done in full partnership with, or led by, Indigenous people., (© 2023. The Author(s).)

Background: Emerging biomarker technologies (e.g., MRI, EEG, digital phenotyping, eye-tracking) have potential to move the identification of autism into the first year of life. We investigated the perspectives of parents about the anticipated utility and impact of predicting later autism diagnosis from a biomarker-based test in infancy., Methods: Parents of infants were interviewed to ascertain receptiveness and perspectives on early (6-12 months) prediction of autism using emerging biomarker technologies. One group had experience parenting an older autistic child (n=30), and the other had no prior autism parenting experience (n=25). Parent responses were analyzed using inductive qualitative coding methods., Results: Almost all parents in both groups were interested in predictive testing for autism, with some stating they would seek testing only if concerned about their infant's development. The primary anticipated advantage of testing was to enable access to earlier intervention. Parents also described the anticipated emotions they would feel in response to test results, actions they might take upon learning their infant was likely to develop autism, attitudes towards predicting a child's future support needs, and the potential impacts of inaccurate prediction., Conclusion: In qualitative interviews, parents of infants with and without prior autism experience shared their anticipated motivations and concerns about predictive testing for autism in the first year of life. The primary reported motivators for testing-to have more time to prepare and intervene early-could be constrained by familial resources and service availability. Implications for ethical communication of results, equitable early intervention, and future research are discussed., (© 2024. The Author(s).)

To explore the benefits of a brief autism education intervention on peer engagement and inclusion of autistic children at day camps. A convergent, parallel, two-arm (intervention/no intervention), non-randomized, mixed-methods design was used. The individualized, peer-directed, 5-10 min intervention included four components: (1) diagnostic label, (2) description and purpose of unique behaviors, (3) favorite activities and interests, and (4) strategies to engage. A timed-interval behavior-coding system was used to evaluate engagement between each autistic camper and their peers based on videos taken at camp (days 1, 2, 5). Interviews with campers and camp staff explored why changes in targeted outcomes may have occurred. Percent intervals in which the autistic campers were jointly engaged with peers improved in the intervention group (n = 10) and did not change in the control group (n = 5). A large between group intervention effect occurred by day 5 (Z = - 1.942, η 2  = 0.29). Interviews (5 autistic campers, 34 peers, 18 staff) done on the last day of camp in the intervention group garnered three themes: (1) Changed behavioral attribution, (2) Knowledge facilitates understanding and engagement, and (3) (Mis)perceptions of increased inclusion. A brief educational intervention that includes individualized explanatory information and strengths-based strategies might improve peers' understanding of and social engagement with autistic children in community programs such as camps., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Objectives: Autism spectrum disorder (ASD) is estimated to be ∼10 times higher in children with versus without an autistic sibling in population-based studies. Prospective studies of infant siblings have revealed even higher familial recurrence rates. In the current prospective longitudinal study, we provide updated estimates of familial ASD recurrence using a multinational database of infants with older autistic siblings., Methods: Data were collated across 18 sites of the Baby Siblings Research Consortium, an international network studying the earliest manifestations of ASD. A total of 1605 infants with an older autistic sibling were followed from early in life to 3 years, when they were classified as ASD or non-ASD. Hierarchical generalized linear modeling, with site as a random effect, was used to examine predictors of recurrence in families and calculate likelihood ratios., Results: A total of 20.2% of siblings developed ASD, which is not significantly higher than the previously reported rate of 18.7%. Male infant sex and >1 older affected sibling were significant predictors of familial recurrence. Proband sex also influenced recurrence rates, with siblings of female probands significantly more likely to develop ASD than siblings of male probands. Race and maternal education were also associated with recurrence in families., Conclusions: The familial recurrence rate of ASD, as measured in infant sibling studies, has not changed appreciably since previous estimates were made in 2011. Younger siblings of autistic children, particularly those who are male, have an affected female sibling, multiple affected siblings, or are impacted by social inequities, should be closely monitored and promptly referred for diagnostic evaluation., (Copyright © 2024 by the American Academy of Pediatrics.)

White matter (WM) fiber tract differences are present in autism spectrum disorder (ASD) and could be important markers of behavior. One of the earliest phenotypic differences in ASD are language atypicalities. Although language has been linked to WM in typical development, no work has evaluated this association in early ASD. Participants came from the Infant Brain Imaging Study and included 321 infant siblings of children with ASD at high likelihood (HL) for developing ASD; 70 HL infants were later diagnosed with ASD (HL-ASD), and 251 HL infants were not diagnosed with ASD (HL-Neg). A control sample of 140 low likelihood infants not diagnosed with ASD (LL-Neg) were also included. Infants contributed expressive language, receptive language, and diffusion tensor imaging data at 6-, 12-, and 24 months. Mixed effects regression models were conducted to evaluate associations between WM and language trajectories. Trajectories of microstructural changes in the right arcuate fasciculus were associated with expressive language development. HL-ASD infants demonstrated a different developmental pattern compared to the HL-Neg and LL-Neg groups, wherein the HL-ASD group exhibited a positive association between WM fractional anisotropy and language whereas HL-Neg and LL-Neg groups showed weak or no association. No other fiber tracts demonstrated significant associations with language. In conclusion, results indicated arcuate fasciculus WM is linked to language in early toddlerhood for autistic toddlers, with the strongest associations emerging around 24 months. To our knowledge, this is the first study to evaluate associations between language and WM development during the pre-symptomatic period in ASD., (© 2024. The Author(s), under exclusive licence to Springer Nature Limited.)

This study investigated the extent to which sensory responsivity in infancy contributes to adaptive behavior development among toddlers at high-familial likelihood for autism. Prospective, longitudinal data were analyzed for 218 children, 58 of whom received an autism diagnosis. Results indicated that sensory profiles at age one year (hyperresponsivity, sensory seeking) were negatively associated with later adaptive behavior, particularly for socialization, at age 3 years regardless of diagnostic status. These results suggest that early differences in sensory responsivity may have downstream developmental consequences related to social development among young children with high-familial likelihood for autism., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Purpose: The impacts of the COVID-19 pandemic on autistic children/youth and their families and on service providers are not yet well-understood. This study explored the lived experiences of families with an autistic child and service providers who support them regarding the impacts of the pandemic on service delivery and well-being., Methods: In this qualitative study, families and service providers (e.g., early intervention staff, service providers, school personnel) supporting autistic children/youth were interviewed. Participants were recruited from a diagnostic site and two service organizations that support autistic children/youth., Results: Thirteen parents and 18 service providers participated in either an individual or group interview. Findings indicate challenges associated with pandemic restrictions and resulting service shifts. These challenges generally imposed negative experiences on the daily lives of autistic children/youth and their families, as well as on service providers. While many were adversely affected by service delivery changes, families and service agencies/providers pivoted and managed challenges. Shifts have had varied impacts, with implications to consider in pandemic planning and post-pandemic recovery., Conclusion: Results highlight the need for autism-focused supports, as well as technology and pandemic preparedness capacity building within health, therapeutic and educational sectors in order to better manage shifts in daily routines during emergencies such as a pandemic. Findings also offer instructive consideration in service delivery post-pandemic., (© 2024. The Author(s).)

The amygdala undergoes a period of overgrowth in the first year of life, resulting in enlarged volume by 12 months in infants later diagnosed with ASD. The overgrowth of the amygdala may have functional consequences during infancy. We investigated whether amygdala connectivity differs in 12-month-olds at high likelihood (HL) for ASD (defined by having an older sibling with autism), compared to those at low likelihood (LL). We examined seed-based connectivity of left and right amygdalae, hypothesizing that the HL and LL groups would differ in amygdala connectivity, especially with the visual cortex, based on our prior reports demonstrating that components of visual circuitry develop atypically and are linked to genetic liability for autism. We found that HL infants exhibited weaker connectivity between the right amygdala and the left visual cortex, as well as between the left amygdala and the right anterior cingulate, with evidence that these patterns occur in distinct subgroups of the HL sample. Amygdala connectivity strength with the visual cortex was related to motor and communication abilities among HL infants. Findings indicate that aberrant functional connectivity between the amygdala and visual regions is apparent in infants with genetic liability for ASD and may have implications for early differences in adaptive behaviors., (© The Author(s) 2024. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Introduction: The developmentally variable nature of autism poses challenges in providing timely services tailored to a child's needs. Despite a recent focus on longitudinal research, priority-setting initiatives with stakeholders highlighted the importance of studying a child's day-to-day functioning and social determinants of health to inform clinical care. To address this, we are conducting a pragmatic multi-site, patient-oriented longitudinal investigation: the Pediatric Autism Research Cohort ( PARC) Study . In young children (<7 years of age) newly diagnosed with autism, we will: (1) examine variability in trajectories of adaptive functioning from the point of diagnosis into transition to school; and (2) identify factors associated with trajectories of adaptive functioning., Methods and Analysis: We aim to recruit 1300 children under 7 years of age with a recent (within 12 months) diagnosis of autism from seven sites: six in Canada; one in Israel. Participants will be followed prospectively from diagnosis to age 8 years, with assessments at 6-month intervals. Parents/caregivers will complete questionnaires administered via a customized online research portal. Following each assessment timepoint, families will receive a research summary report describing their child's progress on adaptive functioning and related domains. Analysis of the longitudinal data will map trajectories and examine child, family and service characteristics associated with chronogeneity (interindividual and intraindividual heterogeneity over time) and possible trajectory turning points around sensitive periods like the transition to school., Ethics and Dissemination: Ethics approvals have been received by all sites. All parents/respondents will provide informed consent when enrolling in the study. Using an integrated knowledge translation approach, where stakeholders are directly engaged in the research process, the PARC Study will identify factors associated with trajectories of functioning in children with autism. Resulting evidence will be shared with government policy makers to inform provincial and national programs. Findings will be disseminated at conferences and published in peer-reviewed journals., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Exposure to industrial pollutants is a potential risk factor not fully explored in ASD with regression (ASD+R). We studied geographical collocation patterns of industrial air chemical emissions and the location of homes of children with ASD+R at different exposure times, compared with ASD cases without regression (ASD-R). Fifteen of 111 emitted chemicals collocated with ASD+R, and 65 with ASD-R. ASD+R collocated more strongly with different neurotoxicants/immunotoxicants a year before diagnosis, whereas ASD-R were moderately collocated with chemicals across all exposure periods. This preliminary exploratory analysis of differences in exposure patterns raises a question regarding potential pathophysiological differences between the conditions.

Amygdala function is implicated in the pathogenesis of autism spectrum disorder (ASD) and anxiety. We investigated associations between early trajectories of amygdala growth and anxiety and ASD outcomes at school age in two longitudinal studies: high- and low-familial likelihood for ASD, Infant Brain Imaging Study (IBIS, n = 257) and typically developing (TD) community sample, Early Brain Development Study (EBDS, n = 158). Infants underwent MRI scanning at up to 3 timepoints from neonate to 24 months. Anxiety was assessed at 6-12 years. Linear multilevel modeling tested whether amygdala volume growth was associated with anxiety symptoms at school age. In the IBIS sample, children with higher anxiety showed accelerated amygdala growth from 6 to 24 months. ASD diagnosis and ASD familial likelihood were not significant predictors. In the EBDS sample, amygdala growth from birth to 24 months was associated with anxiety. More anxious children had smaller amygdala volume and slower rates of amygdala growth. We explore reasons for the contrasting results between high-familial likelihood for ASD and TD samples, grounding results in the broader literature of variable associations between early amygdala volume and later anxiety. Results have the potential to identify mechanisms linking early amygdala growth to later anxiety in certain groups., Competing Interests: Declaration of Competing Interest The authors report no financial or personal relationships that influenced their work., (Copyright © 2023 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Literature examining emotional regulation in infants with autism spectrum disorder (ASD) has focused on parent report. We examined behavioral and physiological responses during an emotion-evoking task designed to elicit emotional states in infants. Infants at an increased likelihood for ASD (IL; have an older sibling with ASD; 96 not classified; 29 classified with ASD at age two) and low likelihood (LL; no family history of ASD; n = 61) completed the task at 6, 12, and 18 months. The main findings were (1) the IL-ASD group displayed higher levels of negative affect during toy removal and negative tasks compared to the IL non-ASD and LL groups, respectively, (2) the IL-ASD group spent more time looking at the baseline task compared to the other two groups, and (3) the IL-ASD group showed a greater increase in heart rate from baseline during the toy removal and negative tasks compared to the LL group. These results suggest that IL children who are classified as ASD at 24 months show differences in affect, gaze, and heart rate during an emotion-evoking task, with potential implications for understanding mechanisms related to emerging ASD.

Pre-diagnostic deficits in social motivation are hypothesized to contribute to autism spectrum disorder (ASD), a heritable neurodevelopmental condition. We evaluated psychometric properties of a social motivation index (SMI) using parent-report item-level data from 597 participants in a prospective cohort of infant siblings at high and low familial risk for ASD. We tested whether lower SMI scores at 6, 12, and 24 months were associated with a 24-month ASD diagnosis and whether social motivation's course differed relative to familial ASD liability. The SMI displayed good internal consistency and temporal stability. Children diagnosed with ASD displayed lower mean SMI T-scores at all ages and a decrease in mean T-scores across age. Lower group-level 6-month scores corresponded with higher familial ASD liability. Among high-risk infants, strong decline in SMI T-scores was associated with 10-fold odds of diagnosis. Infant social motivation is quantifiable by parental report, differentiates children with versus without later ASD by age 6 months, and tracks with familial ASD liability, consistent with a diagnostic and susceptibility marker of ASD. Early decrements and decline in social motivation indicate increased likelihood of ASD, highlighting social motivation's importance to risk assessment and clarification of the ontogeny of ASD.

Background: Social ABCs is a caregiver-mediated Naturalistic Developmental Behavioral Intervention for toddlers with confirmed/suspected Autism Spectrum Disorder (ASD), with evidence in controlled research settings. Information is lacking on implementation in community settings. We reported on the treatment effectiveness of this program within a community setting, and the current paper describes the implementation phase of this work. Distinguishing between treatment and implementation effectiveness is critical for transporting interventions from laboratory to community., Objectives: Describe the implementation of Social ABCs through a large public autism service, supported by a research-community partnership., Methods: We describe this project through the Exploration, Preparation, Implementation, Sustainment (EPIS) framework as it focuses on implementation of evidence-based practices in publicly funded services. We apply this framework to the reporting stage. This project took place in the context of a 3-year government-funded pilot at a hospital-based publicly funded autism service. Participants: Program developers; Autism Service team; toddlers with suspected/confirmed ASD aged 14-34 months ( M  = 25.18 months) and their caregivers. Training/supervision: Provided by program developers at tapering intensity. Evaluation: Caregivers completed the Caregiver Diary and satisfaction surveys. We explored training processes, intervention uptake, acceptability, adaptations to fit community context, appropriateness, perceived impact, and facilitators/barriers., Results: Six coaches were trained to fidelity, and three of these were further trained as Site Trainers. 183 clinically referred families enrolled and 89.4% completed the 12-week program. Caregivers reported increases in adherence and competence, high satisfaction and perceived benefits for their children. Coaches reported high satisfaction. Toddlers were appropriately identified to receive the intervention. Referral processes improved, including decreased referral age, and increased family readiness for diagnostic assessment and subsequent services., Conclusions: Social ABCs was successfully implemented in a community service through a research-community partnership. The program was feasible, acceptable, and appropriate within a community context. Drivers of success included funding, institutional support, shared decision-making, adaptations to fit context, leadership support, perceived positive impact, and commitment to evaluation., Competing Interests: JB and SB co-developed the Social ABCs intervention. Neither party receives any royalties from its use, but we recognize the potential for reputational bias. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2024 Drmic, Brian, Roncadin, Shaver, Pase, Rugajs, Tofano, Dowds, Zwaigenbaum, Smith and Bryson.)

This study examined educators' descriptions of the positive character traits of students with autism spectrum disorder at ages 7-8 and 10-11, using an adapted version of the Values in Action (VIA) Classification of Strengths. The most commonly endorsed strengths at both age intervals were kindness, specific skills, self-regulation, and perseverance. Higher scores for challenging behavior were associated with a lower likelihood of endorsement for Happiness and Courage traits. Higher autism symptom severity scores were associated with a lower likelihood of endorsement for Courage traits. Few significant differences were found for endorsement of trait categories by students' educational placement or the type of curriculum they received. Results may have implications for student-teacher relationships, educational assessments, and school-based interventions that emphasize strengths and resilience., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background: Previous research has demonstrated heterogeneous adaptive outcomes across the autism spectrum; however, the current literature remains limited in elucidating turning points and associated factors for longitudinal variability (chronogeneity). To address these empirical gaps, we aimed to provide a finer-grained characterization of trajectories of adaptive functioning from early childhood to adolescence in autism., Methods: Our sample ( N  = 406) was drawn from an inception cohort of children diagnosed Autistic at ages 2-5. Adaptive functioning was assessed with Vineland Adaptive Behavior Scales (VABS, 2 nd Edition) across 6 visits from the time of diagnosis by age 18. Parallel-process latent growth curve modeling were used to estimate domain-level VABS trajectories, followed by latent class growth analysis to identify trajectory subgroups. Child characteristics at diagnosis, family demographics, and participation outcomes at adolescence were compared across subgroups., Results: Piecewise latent growth models best described VABS trajectories with two turning points identified at around ages 5-6 and 9-10, respectively reflecting transitions into school age and early adolescence. We parsed four VABS trajectory subgroups that vary by level of functioning and change rate for certain domains and periods. Around 16% of the sample exhibited overall adequate functioning (standard score >85) with notable early growth and social adaptation during adolescence. About 21% showed low adaptive functioning (standard score ≤70), with decreasing slopes by age 6 followed by improvements in communication and daily-living skills by age 10. The other two subgroups (63% in total) were characterized by adaptive functioning between low and adequate levels, with relatively stable trajectories entering school age. These subgroups differed most in their cognitive ability at diagnosis, household income, and social participation in adolescence., Conclusions: We identified key individual and family characteristics and time windows associated with distinct adaptive functioning trajectories, which have important implications for providing timely and tailored supports to Autistic people across developmental stages., Competing Interests: Dr. Peter Szatmari has received royalties from Guilford Press and Simon & Schuster. The remaining authors declare that they have no competing or potential conflicts of interest., (© 2023 The Authors. JCPP Advances published by John Wiley & Sons Ltd on behalf of Association for Child and Adolescent Mental Health.)

Background: Mental health problems are elevated in autistic individuals but there is limited evidence on the developmental course of problems across childhood. We compare the level and growth of anxious-depressed, behavioral and attention problems in an autistic and typically developing (TD) cohort., Methods: Latent growth curve models were applied to repeated parent-report Child Behavior Checklist data from age 2-10 years in an inception cohort of autistic children (Pathways, N = 397; 84% boys) and a general population TD cohort (Wirral Child Health and Development Study; WCHADS; N = 884, 49% boys). Percentile plots were generated to quantify the differences between autistic and TD children., Results: Autistic children showed elevated levels of mental health problems, but this was substantially reduced by accounting for IQ and sex differences between the autistic and TD samples. There was small differences in growth patterns; anxious-depressed problems were particularly elevated at preschool and attention problems at late childhood. Higher family income predicted lower base-level on all three dimensions, but steeper increase of anxious-depressed problems. Higher IQ predicted lower level of attention problems and faster decline over childhood. Female sex predicted higher level of anxious-depressed and faster decline in behavioral problems. Social-affect autism symptom severity predicted elevated level of attention problems. Autistic girls' problems were particularly elevated relative to their same-sex non-autistic peers., Conclusions: Autistic children, and especially girls, show elevated mental health problems compared to TD children and there are some differences in predictors. Assessment of mental health should be integrated into clinical practice for autistic children.

Emerging evidence suggests that the higher prevalence of autism in individuals who are assigned male than assigned female at birth results from both biological factors and identification biases. Autistic individuals who are assigned female at birth (AFAB) and those who are gender diverse experience health disparities and clinical inequity, including late or missed diagnosis and inadequate support. In this Viewpoint, an international panel of clinicians, scientists, and community members with lived experiences of autism reviewed the challenges in identifying autism in individuals who are AFAB and proposed clinical and research directions to promote the health, development, and wellbeing of autistic AFAB individuals. The recognition challenges stem from the interplay between cognitive differences and nuanced or different presentations of autism in some AFAB individuals; expectancy, gender-related, and autism-related biases held by clinicians; and social determinants. We recommend that professional development for clinicians be supported by health-care systems, professional societies, and governing bodies to improve equitable access to assessment and earlier identification of autism in AFAB individuals. Autistic AFAB individuals should receive tailored support in education, identity development, health care, and social and professional sense of belonging., Competing Interests: Declaration of interests M-CL has received research funding support from the Canadian Institutes of Health Research Sex and Gender Science Chair (GSB 171373), and editorial honorarium from SAGE Publications. SB has received royalties from Western Psychological Services for sales of the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), consulting fees from Janssen, and honoraria for trainings on best diagnostic practices for autism, as well as trainings on use of the ADOS-2 and the Autism Diagnostic Interview-Revised (ADI-R). MGO is supported by the Ford Foundation and Next for Autism. AH is an employee of the Autism Science Foundation, has received honoraria for serving as a reviewer for the US Centers for Disease Control and Prevention, has received travel support from Emory University, serves as the Chair of a Data Safety Monitoring Board for a project at Drexel University, and is a member of both the Phelan McDermid Syndrome Foundation and the Interagency Autism Coordinating council (both unpaid). CH has received research funding support from the US National Institute of Child and Human Development, US National Center for Advancing Translational Sciences, the Eagles Autism Foundation, the Autism Science Foundation, and the Organization for Autism Research, and has received honoraria for serving as a reviewer for the US National Institutes of Health and US Department of Defense. CWN has received research funding support from the US National Institute of Mental Health (R01MH127046). ABR has received research funding support from the US National Institute of Mental Health (R01MH10028–12). CS has received royalties from Pearson Assessments for the Vineland Adaptive Behavior Scales, Third Edition and Wiley for two books related to autism and adaptive behaviour. KS has received research funding support from the US National Institutes of Health, Department of Defense, Missouri Department of Mental Health, Autism Speaks, and Cognoa; grants or contracts from the American Board of Pediatrics, University of Idaho, and University of New Mexico; consulting fees from Autism Navigator and Quadrant Biosciences; honoraria from WebMD/Medscape; payment for expert testimony from Missouri Board of Healing Arts; and has a leadership or fiduciary role in the American Academy of Pediatrics. LZ has received funding support from the Stollery Children's Hospital Foundation Chair in Autism. All other authors declare no competing interests., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

We examined the relationship between weight status, appetite regulating hormones, and mealtime behaviors among children, (5-12 years old), diagnosed with Autism Spectrum Disorder (ASD) in a cross-sectional study. All (N = 21) completed anthropometry measurements and (n = 18) provided blood samples for hormone analysis. Mealtime behavior, dietary, physical activity, puberty stage, and social impairment data were collected. Under fasting conditions, overweight/obese (OWOB) participants, (n = 6), had higher leptin concentrations (p < 0.02) and more feeding challenges (p < 0.05) than normal weight (n = 15). Higher leptin levels and disruptions in mealtime behaviors may exist among OWOB children in this study. Future longitudinal studies that examine appetite regulating hormones and mealtime behaviors may inform our understanding of the role of these markers in the development of obesity in ASD., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

We examined the narrative abilities of bilingual and monolingual children on the autism spectrum (AS), whether bilinguals presented stronger social and pragmatic language abilities compared to monolinguals, and the link between narrative, social, and pragmatic language abilities.The narrative, social, and pragmatic language skills of school-aged bilinguals (n = 54) and monolinguals (n = 80) on the AS were assessed using normed measures. Language exposure was estimated through a parent questionnaire.Bilinguals performed similarly to monolinguals on measures of narrative, social, and pragmatic language skills. However, balanced bilinguals performed better on a nonliteral language task.Overall, results indicate that bilingual children on the AS can become as proficient in using language as monolinguals and may enjoy a bilingual advantage., (© 2022. The Author(s).)

Autistic children experience high rates of anxiety. Insistence on sameness behaviour (IS) is a core feature of autism that appears correlated with anxiety severity. The objective of this study was to examine the longitudinal relations between anxiety and IS in autistic children using a developmental cascade model. A longitudinal cohort of 421 autistic children was followed between 4 and 11 years of age. Anxiety was quantified using items from the Anxiety Problems subscale of the Child Behavior Checklist; sameness behaviours were measured using the Repetitive Behavior Scale-Revised, Ritualistic/sameness subscale (both parent-report measures). Structural equation modelling was used to examine the longitudinal and directional associations between anxiety and IS at four time-points, through cross-lagged panel models (CLPM) with and without a random-intercepts component (RI-CLPM). Both the CLPM and the RI-CLPM had good fit. Significant directional associations were detected whereby elevated or increasing IS preceded elevated or increasing anxiety symptoms 1-2 years later, respectively. Stable baseline tendencies towards anxiety and IS as between-person traits (intercepts) were strongly associated (standardized estimate = 0.69, p < 0.001). The magnitude of the cross-sectional associations between anxiety and IS appeared to lessen with age. IS and anxiety symptoms in autism are closely related. They appear to be shared traits that mirror each other particularly in younger children. Increasing IS may be a sign of emerging future anxiety. Interventions that target IS to reduce or prevent anxiety amongst school-aged autistic children merit further study., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.)

The objectives were to compare patterns of visual attention in toddlers diagnosed with autism spectrum disorder (ASD) as compared to their sex- and age-matched neurotypical (NT) peers. Participants included 23 toddlers with ASD and 19 NT toddlers (mean age: 25.52 versus 25.21 months, respectively) assessed using computerized tasks to measure sustained attention, disengaging attention, and cognitive control, as well as an in-person task to assess joint attention. Toddlers in the ASD group showed increased looking durations on the sustained attention task, as well as reduced frequencies of responding to and initiating joint attention compared to NT peers, but showed no differences on tasks of disengaging attention and cognitive control. The results suggest that toddlers with ASD have attentional strengths that may provide a foundation for building attention, communicative, and ultimately, academic skills., (© 2023 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals LLC.)

Infants at increased likelihood for autism spectrum disorder (ASD) exhibit more negative affect and avoidance behaviour than typically developing infants, and children with ASD express fear differently than typically developing peers. We examined behavioural reactions to emotion-evoking stimuli in infants at increased familial likelihood for ASD. Participants included 55 increased likelihood (IL) infants (i.e., siblings of children diagnosed with ASD) and 27 typical likelihood (TL) infants (i.e., no family history of ASD). At 18 months, we showed infants two masks that commonly elicit fearful responses in older children and examined potential behavioural differences in approach, avoidance, 'freezing', crying, gaze aversion, and smiling. At 24 months, infants were assessed with the Toddler Module of the Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2). Results of video-based coding showed that (1) IL infants exhibited more intense avoidance behaviour than TL infants in response to masks, and (2) intensity of avoidance and duration of freezing were positively correlated with ADOS-2 symptom severity scores. Findings suggest that differences in response to emotion-eliciting stimuli may predict later ASD symptoms. Such behavioural differences may inform early detection and intervention in ASD., Competing Interests: Declaration of Competing Interest The authors declare that they have no competing interests., (Copyright © 2023 Elsevier Inc. All rights reserved.)

This study examined the construct validity of the Autism Classification System of Functioning: Social Communication (ACSF). Participants included 145 parents of children with autism (2-19 years). The degree of convergent and discriminant validity between parent reported ACSF and subscales from Social Responsiveness Scale 2nd edition and Behavior Assessment System for Children, 3rd Edition were examined against a priori hypotheses. We examined construct validity in the entire sample as well as in specific age cohorts. Our findings suggest that ACSF can provide a valid classification system of social communication ability in children with autism 2-19 years of age, and its two subscales may be used to examine different aspects of social communication ability., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Decades of research have established that the home language environment, especially quality of caregiver speech, supports language acquisition during infancy. However, the neural mechanisms behind this phenomenon remain under studied. In the current study, we examined associations between the home language environment and structural coherence of white matter tracts in 52 typically developing infants from English speaking homes in a western society. Infants participated in at least one MRI brain scan when they were 3, 6, 12, and/or 24 months old. Home language recordings were collected when infants were 9 and/or 15 months old. General linear regression models indicated that infants who heard the most adult words and participated in the most conversational turns at 9 months of age also had the lowest fractional anisotropy in the left posterior parieto-temporal arcuate fasciculus at 24 months. Similarly, infants who vocalized the most at 9 months also had the lowest fractional anisotropy in the same tract at 6 months of age. This is one of the first studies to report significant associations between caregiver speech collected in the home and white matter structural coherence in the infant brain. The results are in line with prior work showing that protracted white matter development during infancy confers a cognitive advantage., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Background: Heterogeneity in adaptive behavior abilities among people with autism spectrum disorder (ASD) is expressed not only as uneven levels of impairment across domains, but also in the developmental trajectories of adaptive skills. We studied the question of whether, after accounting for global adaptive behavior development, we find evidence of heterogeneity in the trajectories of specific domains of adaptive behavior., Methods: A sample of 504 children with ASD was obtained by combining data from two independent natural history studies conducted in North America. We used a factor of curves model to explain growth between 36 and 138 months in Vineland Adaptive Behavior Scales, Second Edition (VABS) age equivalents as a function of domain-specific and global growth processes., Results: The domain-specific trajectories in all three domains (Communication, Daily Living Skills, and Socialization) reflected impairment relative to age expectations as well as slower-than-expected growth with age, and the parameters of these trajectories were moderately-to-strongly correlated across domains. The global adaptive behavior trajectory had an initial (36-41 months of age) developmental level of about 22 age-equivalent months, and eventually slowed after initially increasing by about 6 months each year. The global trajectory accounted for the majority of variance in the domain-level processes; however, additional variance remained (14%-38%) in the domain-level intercepts, slopes, and quadratic processes., Conclusions: These results extend existing theoretical and empirical support for the hierarchical structure of adaptive behavior to include its development over time in clinical samples of children with ASD. A latent global trajectory may be sufficient to describe the growth of adaptive behavior in children with ASD; however, the remaining domain-specific variability after accounting for global adaptive behavior development allows for the possibility that differential effects of intervention on specific domains may be possible and detectable., (© 2022 Association for Child and Adolescent Mental Health. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.)

Background: Behavioral symptom trajectories are informative of the development of young children at increased likelihood for autism spectrum disorder (ASD)., Methods: Developmental trajectories of early signs were examined in a cohort of siblings of children diagnosed with ASD (n = 502) from 6 to 18 months using the Autism Observation Scale for Infants (AOSI), and from 18 months to 5-7 years using the Autism Diagnostic Observation Schedule (ADOS). Diagnostic outcomes for ASD at age 3 confirmed diagnosis for 137 children. We further analyzed the conditional probability of a switch from a trajectory measured with the AOSI to a trajectory measured with the ADOS as well as predictors from age 6 months., Results: We derived three early trajectories of behavioral signs ("Low," "Intermediate," and "Increasing") from 6 to 18 months using the AOSI. We then derived three similar, distinct trajectories for the evolution of symptom severity between 18 and 60-84 months of age (Low, Intermediate, Increasing) using the ADOS. Globally, the Low trajectory included children showing fewer ASD signs or symptoms and the Increasing trajectory included children showing more severe symptoms. We also found that most children in the Low AOSI trajectory stayed in the corresponding ADOS trajectory, whereas children in an Increasing AOSI trajectory tended to transition to an Intermediate or Increasing ADOS trajectory. Developmental measures taken at 6 months (early signs of ASD, Fine Motor, and Visual Reception skills) were predictive of trajectory membership., Conclusions: Results confirm substantial heterogeneity in the early emergence of ASD signs in children at increased likelihood for ASD. Moreover, we showed that the way those early behavioral signs emerge in infants is predictive of later symptomatology. Results yield clear clinical implications, supporting the need to repeatedly assess infants at increased likelihood for ASD as this can be highly indicative of their later development and behavior., (© 2022 Association for Child and Adolescent Mental Health.)

Lay Abstract: Currently, our understanding of the adolescent period for autistic youth has relied on the expertise of researchers, clinicians, parents, and teachers, yet rarely involves their unique first-person experiences. Our study attempted to understand the experiences and perspectives of autistic adolescents in their home, school, and community environments using the Autism Voices protocol, a semi-structured interview specifically designed and tailored to engage with autistic youth with various language and intellectual levels. The analysis of the 31 interviews conducted with autistic adolescents aged 11-18 years highlighted six themes: (1) autistic identities, (2) thinking about the future, (3) seeking social connection on their own terms, (4) seeking autonomy, (5) school as both a stressor and social facilitator, and (6) experiences of stress and anxiety. These results highlight similarities and differences in the adolescent experiences of autistic youth compared to their typically developing peers. Our findings suggest that by removing assumptions about the experiences of autistic individuals and investing in inclusive interview methods, we can faithfully capture the experiences of autistic youth regardless of their communication and cognitive abilities. Being able to capture and amplify these diverse voices will facilitate the active involvement of autistic communities in research and clinical and policy decisions that impact them.

Importance: Children with autism and their siblings exhibit executive function (EF) deficits early in development, but associations between EF and biological sex or early brain alterations in this population are largely unexplored., Objective: To investigate the interaction of sex, autism likelihood group, and structural magnetic resonance imaging alterations on EF in 2-year-old children at high familial likelihood (HL) and low familial likelihood (LL) of autism, based on having an older sibling with autism or no family history of autism in first-degree relatives., Design, Setting, and Participants: This prospective cohort study assessed 165 toddlers at HL (n = 110) and LL (n = 55) of autism at 4 university-based research centers. Data were collected from January 1, 2007, to December 31, 2013, and analyzed between August 2021 and June 2022 as part of the Infant Brain Imaging Study., Main Outcomes and Measures: Direct assessments of EF and acquired structural magnetic resonance imaging were performed to determine frontal lobe, parietal lobe, and total cerebral brain volume., Results: A total of 165 toddlers (mean [SD] age, 24.61 [0.95] months; 90 [54%] male, 137 [83%] White) at HL for autism (n = 110; 17 diagnosed with ASD) and LL for autism (n = 55) were studied. The toddlers at HL for autism scored lower than the toddlers at LL for autism on EF tests regardless of sex (mean [SE] B = -8.77 [4.21]; 95% CI, -17.09 to -0.45; η2p = 0.03). With the exclusion of toddlers with autism, no group (HL vs LL) difference in EF was found in boys (mean [SE] difference, -7.18 [4.26]; 95% CI, 1.24-15.59), but EF was lower in HL girls than LL girls (mean [SE] difference, -9.75 [4.34]; 95% CI, -18.32 to -1.18). Brain-behavior associations were examined, controlling for overall cerebral volume and developmental level. Sex differences in EF-frontal (B [SE] = 16.51 [7.43]; 95% CI, 1.36-31.67; η2p = 0.14) and EF-parietal (B [SE] = 17.68 [6.99]; 95% CI, 3.43-31.94; η2p = 0.17) associations were found in the LL group but not the HL group (EF-frontal: B [SE] = -1.36 [3.87]; 95% CI, -9.07 to 6.35; η2p = 0.00; EF-parietal: B [SE] = -2.81 [4.09]; 95% CI, -10.96 to 5.34; η2p = 0.01). Autism likelihood group differences in EF-frontal (B [SE] = -9.93 [4.88]; 95% CI, -19.73 to -0.12; η2p = 0.08) and EF-parietal (B [SE] = -15.44 [5.18]; 95% CI, -25.86 to -5.02; η2p = 0.16) associations were found in girls not boys (EF-frontal: B [SE] = 6.51 [5.88]; 95% CI, -5.26 to 18.27; η2p = 0.02; EF-parietal: B [SE] = 4.18 [5.48]; 95% CI, -6.78 to 15.15; η2p = 0.01)., Conclusions and Relevance: This cohort study of toddlers at HL and LL of autism suggests that there is an association between sex and EF and that brain-behavior associations in EF may be altered in children at HL of autism. Furthermore, EF deficits may aggregate in families, particularly in girls.

Lay Abstract: What people do or engage in in their daily lives, or daily life participation, is often linked to their state of being happy and healthy, as well as potential for living independently. To date, little research has been conducted on daily activity participation by autistic youth at home, at school or in the community. Learning more about individual differences in participation levels and what might influence them can help to create custom supports for autistic youth and their families. In this study, 158 caregivers of autistic youth were asked how often their children took part in 25 common activities at two assessments, about one year apart. The analysis showed three profiles for each of the home and school settings and two profiles for the community setting. These profiles reflected distinct patterns in how often autistic youth took part in various daily activities, particularly in doing homework, school club activities and community gatherings. Most autistic youth were in profiles marked by often taking part at home but less often at school and in the community, and about three-fourths of them tended to stay in the same profile over time. Autistic youth with limited participation profiles were more likely to have lower scores on measures of cognitive ability and daily life skills and more challenging behaviour, and faced more barriers in their environment. These findings show how important it is to think about each autistic person's strengths and weaknesses, and changing needs, to better support their daily life participation.

Lay Abstract: Sibling relationship quality is important for the well-being of children on the autism spectrum and their siblings. Little is known, however, about how varied behavior and abilities of children on the autism spectrum may be associated with parent perceptions of domains of sibling relationship quality. We drew data from a subsample of 119 children on the autism spectrum (ages 10-11 years), participating in an ongoing longitudinal study. We looked at how three clinical characteristics (autism symptoms, behavioral difficulties, and communication ability) related to four areas of parent-reported sibling relationship quality (warmth/closeness, conflict, relative status/power, and rivalry). We also examined whether the strength of the association between behavioral difficulties and parent-reported sibling relationship quality was influenced by communication ability. We found that more severe autism symptoms were associated with less conflict and rivalry, and higher communication ability was associated with more relative status/power. We also found that children on the autism spectrum with more behavioral difficulties and weaker communication ability had less warmth/closeness in their sibling relationships. Our findings highlight that it is important to consider autism symptoms, behavioral difficulties, and communication ability, as well as multiple domains of relationship quality, to better understand how parents view the relationships between autistic children and their siblings. Clinically, methods for improving sibling relationships may include teaching conflict resolution strategies to children on the autism spectrum with stronger communication abilities and their siblings, and fostering sibling connection for those with lower communication abilities.

In the general population, irritability is associated with later depression. Despite irritability being more prevalent in autistic children, the long-term sequelae are not well explored. We tested whether irritability in early childhood predicted depression symptoms in autistic adolescents, and whether associations could be explained by difficulties in peer relationships and lower educational engagement. Analyses tested the longitudinal associations between early childhood irritability (ages 3-5) and adolescent depression symptoms (age 14) in a prospective inception cohort of autistic children ( N = 390), followed from early in development shortly after they received a clinical diagnosis. Mediators were measured in mid-childhood (age 10) by a combination of measures, from which latent factors for peer relationships and educational engagement were estimated. Results showed early childhood irritability was positively associated with adolescent depression symptoms, and this association remained when adjusting for baseline depression. A significant indirect pathway through peer relationships was found, which accounted for around 13% of the association between early childhood irritability and adolescent depression, suggesting peer problems may partially mediate the association between irritability and later depression. No mediation effects were found for education engagement. Results highlight the importance of early screening and intervention for co-occurring irritability and peer problems in young autistic children.

Background: Children with autism spectrum disorder (ASD) receive a wide range of services., Aims: To examine the association between behavioural services received by children with ASD between ages 2 and 5 years and outcomes during primary school years., Methods: A total of 414 preschool-aged children diagnosed with ASD were enrolled at five Canadian sites and were assessed within four months of diagnosis (T1), six months later (T2), 12 months later (T3), at school entry (T4), and then annually (T5-T8) to 11 years of age. The association between the receipt of behavioural services during T1 to T3 and T8 outcomes related to adaptive behaviour and behavioural problems was modelled using linear regressions adjusted for immigrant status, family income, child's age at diagnosis, site, sex assigned at birth, and baseline (T1) outcome., Results: Children who received behavioural services during at least one time period from T1 to T3 did not have significantly different outcomes at T8 than children who did not receive any behavioural services., Implications: Pre-school use of behavioural services was not found to affect outcomes during later childhood. Numerous challenges accompany studies of the association between pre-school service use and later outcomes in a heterogeneous ASD sample. Recommendations for study design are provided., Competing Interests: Declarations of Competing Interest None., (Copyright © 2022 Elsevier Ltd. All rights reserved.)

Evidence supports early intervention for toddlers with ASD, but barriers to access remain, including system costs, workforce constraints, and a range of family socio-demographic factors. An urgent need exists for innovative models that maximize resource efficiency and promote widespread timely access. We examined uptake and outcomes from 82 families participating in a parent-mediated intervention comprising group-based learning and individual coaching, delivered either in-person (n = 45) or virtually (n = 37). Parents from diverse linguistic, ethnic, and educational backgrounds gained intervention skills and toddlers evidenced significant social-communication gains. Few differences emerged across socio-demographic factors or delivery conditions. Findings highlight the feasibility, acceptability, and promise of group-based learning when combined with individual coaching, with added potential to increase program reach via virtual delivery., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

The Autism Classification System of Functioning: Social Communication (ACSF) describes social communication functioning levels. First developed for preschoolers with ASD, this study tests an expanded age range (2-to-18 years). The ACFS rates the child's typical and best (i.e., capacity) performance. Qualitative methods tested parent and clinician perspectives of the ACSF age expansion using content analysis. The ACSF was used twice by parents and professionals for the same child/youth. Reliabilities were assessed using weighted kappa. Content validity supported the ACSF's applicability, clarity, and usability. The ACSF adaptations did not change its original construct. Reliability were calculated from 90 parent and professional Time-1 and Time-2 ratings for children/youth (2.1-15.6 years). Results showed good-to-very good intra-rater agreement (typical) and good inter-rater agreement (capacity)., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background: The co-presentation of severe obesity (SO) and global developmental delay (GDD) in Canadian preschool children has not been examined. However, SO and GDD may require syndromic diagnoses and unique management considerations., Objectives: To determine (1) minimum incidence; (2) age of onset and risk factors; and (3) health care utilization for co-presenting SO and GDD., Methods: Through the Canadian Paediatric Surveillance Program (CPSP), a monthly form was distributed to participants from February 2018 to January 2020 asking for reports of new cases of SO and GDD among children ≤5 years of age. We performed descriptive statistics for quantitative questions and qualitative content analysis for open-ended questions., Results: Forty-seven cases (64% male; 51% white; mean age: 3.5 ± 1.2 years) were included. Age of first weight concern was 2.5 ± 1.3 years and age of GDD diagnosis was 2.7 ± 1.4 years. Minimum incidence of SO and GDD was 3.3 cases per 100,000 for ≤5 years of age per year. Identified problems included school and/or behavioural problems (n = 17; 36%), snoring (n = 14; 30%), and asthma/recurrent wheeze (n = 10; 21%). Mothers of 32% of cases (n = 15) had obesity and 21% of cases (n = 10) received neonatal intensive care. Microarray was ordered for 57% (n = 27) of children. A variety of clinicians and services were accessed. As reported by CPSP participants, challenges faced by families and health service access were barriers to care., Conclusion: Children with SO and GDD have multiple comorbidities, and require early identification and referral to appropriate services. These cases may also benefit from additional testing to rule out known genetic obesity syndromes., Competing Interests: WTG received research funding from the Canadian Institutes of Health Reearch. AMH is a member of the Clinical Advisory Board, Setmelanotide for BBS/Alstrom’s disease, Rhythm Pharmaceuticals; Chair, Scientific Advisory Board, PWS USA and PI for clinical trials with Rhythm pharmaceuticals and Levo Therapeutics. KMM has served as a member of an advisory board for Novo Nordisk and is on a Data Safety Monitoring committee for Novartis. She has received research funding from the Canadian Institutes of Health Research and McMaster University. JH has consulted for Novo Nordisk and the Pediatric Obesity National Advisory Board. She has received funding from Mead Johnson, Levo Therapeutics, and the Foundation for Prader-Willi Research. MH holds a Fonds de la recherche du Québec – Santé (FRQS) Junior 2 Clinical Research Scholar Award and is the recipient of the 2019 Canadian Society for Endocrinology and Metabolism Young Investigator Award. She is member of Canada’s Children’s Hospitals Foundation (CCHF) and Sun Life Child and Youth Type 2 Diabetes Prevention Initiative. She has received research funding from the Canadian Institutes of Health Research, the Heart and Stroke Foundation of Canada, Diabète Québec, the Fonds de Recherche du Québec – Santé, the Quebec Cardiometabolic Health, Diabetes and Obesity Network and the Quebec Network on Nursing Intervention Research, as well as through the Canada’s Children’s Hospitals Foundation (CCHF)/Sun Life initiative. GDCB served as a member of a national advisory board with Novo Nordisk Canada. He received research funding from the Canadian Institutes of Health Research, Public Health Agency of Canada, Alberta Health Services, Alberta Innovates, and the Women and Children’s Health Research Institute (UAlberta). All authors have submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Conflicts that the editors consider relevant to the content of the manuscript have been disclosed., (© The Author(s) 2022. Published by Oxford University Press on behalf of the Canadian Paediatric Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with ASD and 6,212 non-ASD parents and siblings (total n = 11,312). Examining a wide variety of genetic variants in MSSNG and the Simons Simplex Collection (SSC; n = 9,205), we identified ASD-associated rare variants in 718/5,100 individuals with ASD from MSSNG (14.1%) and 350/2,419 from SSC (14.5%). Considering genomic architecture, 52% were nuclear sequence-level variants, 46% were nuclear structural variants (including copy-number variants, inversions, large insertions, uniparental isodisomies, and tandem repeat expansions), and 2% were mitochondrial variants. Our study provides a guidebook for exploring genotype-phenotype correlations in families who carry ASD-associated rare variants and serves as an entry point to the expanded studies required to dissect the etiology in the ∼85% of the ASD population that remain idiopathic., Competing Interests: Declaration of interests E. Anagnostou has received consultation fees from Roche, Quadrant, and Oron; grant funding from Roche; in-kind supports from AMO Pharma and CRR; editorial honoraria from Wiley; and book royalties from APPI and Springer. She co-holds a patent for the device Anxiety Meter (patent # US20160000365A1). S.W.S. is on the Scientific Advisory Committee of Population Bio and serves as a Highly Cited Academic Advisor for King Abdulaziz University, and intellectual property from aspects of his research held at The Hospital for Sick Children are licensed to Athena Diagnostics and Population Bio. These relationships did not influence data interpretation or presentation during this study but are disclosed for potential future considerations., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Background: Language regression, broadly defined as the loss of acquired language skills in early childhood, is a distinctive feature of autism. Little is known about the factors underlying regression or the prognosis of children who exhibit regression. We examine potential predictors of language regression and test its association with language development in a prospective longitudinal sample of children with autism spectrum disorder (ASD) from diagnosis to age 10 years., Methods: We analysed data from Pathways in ASD, a prospective longitudinal study of 421 children enrolled around the time of an autism diagnosis between 2 and 5 years. Autism Diagnostic Interview-Revised data were available for 408 children, of whom 90 (22%) were classified as having language regression., Results: Demographic and other health factors including caregiver education, family income, child sex, reported seizures, and age of enrolment did not differ between children with and without language regression. Children with language regression walked earlier and attained first words sooner than those without regression. However, both groups attained phrase speech at comparable ages. Those with regression exhibited greater delays in expressive and receptive communication over the follow-up period, although this effect was attenuated when accounting for baseline differences in motor and cognitive ability. Overall, those with language regression continued to exhibit expressive but not receptive communication delay compared to those without regression. Communication trajectories were heterogeneous to age 10 years, irrespective of regression status., Conclusions: Although language regression can be alarming, our findings confirm that its occurrence does not necessarily foreshadow worse developmental outcomes relative to those without regression. Although a discrepancy in age-equivalent communication skills may persist, this can be expected to be of less practical importance with rising average levels of skills. Future studies need to account for the significant variability in language trajectories by considering factors beyond developmental regression., (© 2022 The Authors. Journal of Child Psychology and Psychiatry published by John Wiley & Sons Ltd on behalf of Association for Child and Adolescent Mental Health.)

Background: Sex differences in the prevalence of neurodevelopmental disorders are particularly evident in autism spectrum disorder (ASD). Heterogeneous symptom presentation and the potential of measurement bias hinder early ASD detection in females and may contribute to discrepant prevalence estimates. We examined trajectories of social communication (SC) and restricted and repetitive behaviors (RRBs) in a sample of infant siblings of children with ASD, adjusting for age- and sex-based measurement bias. We hypothesized that leveraging a prospective elevated familial likelihood sample, deriving data-driven behavioral constructs, and accounting for measurement bias would reveal less discrepant sex ratios than are typically seen in ASD., Methods: We conducted direct assessments of ASD symptoms at 6 to 9, 12 to 15, 24, and 36 to 60 months of age (total n observations  = 1254) with infant siblings of children with ASD (n = 377) and a lower ASD-familial-likelihood comparison group (n = 168; n observations  = 527). We established measurement invariance across age and sex for separate models of SC and RRB. We then conducted latent class growth mixture modeling with the longitudinal data and evaluated for sex differences in trajectory membership., Results: We identified 2 latent classes in the SC and RRB models with equal sex ratios in the high-concern cluster for both SC and RRB. Sex differences were also observed in the SC high-concern cluster, indicating that girls classified as having elevated social concerns demonstrated milder symptoms than boys in this group., Conclusions: This novel approach for characterizing ASD symptom progression highlights the utility of assessing and adjusting for sex-related measurement bias and identifying sex-specific patterns of symptom emergence., (Copyright © 2022 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.)