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Genetic research can help advance our knowledge of autism and positively impact the progress of care for individuals with autism. Asian American and Pacific Islander (AAPI) and Black participants remain significantly underrepresented in genetic research in autism in the United States, including nationwide, multisite, genetic consortiums like Simons Foundation Powering Autism Research for Knowledge (SPARK). Few studies have explored the unique motivators and barriers that influence participation in genetics research across underrepresented groups with autism and strategies to increase participation. Therefore, the aim of this study was to understand the perspectives of AAPI and Black parents of individuals with autism about participating in genetic research, specifically motivators (e.g., desire to know more about the relationship between autism and genetics) and/or barriers (e.g., mistrust of research staff) that may impact their decision to participate in genetic research. Using a mixed-methods approach, we collected surveys (n = 134) across the United States and conducted three focus groups with parents of individuals with autism (n = 16) who identified as AAPI and Black from two large metropolitan cities. No significant differences were observed in the survey data but findings from the focus groups elucidate shared motivators for participation (e.g., to help advance the autism field for future generations) and nuanced differences in barriers that influence Black and AAPI parents decision to participate (e.g., different beliefs about the source of autism). Practical suggestions to improve outreach and study engagement in genetic research in autism were identified and discussed.

Despite important advancements into the early detection of autism, there are still few empirically supported interventions for children under the age of two years who are showing early signs. Caregiver-mediated interventions have gained in popularity as a method for delivering support to the child and family. The current study builds on current work by enrolling a comparatively large cohort of infants (ages 12-22 months of age) displaying early signs of autism into a randomized controlled intervention program. Infants and parents received a group-based program using a standard early childhood curriculum. In addition, all families were randomly assigned to receive parent training in the form of either parent-mediated Joint Attention Symbolic Play Engagement and Regulation (JASPER) training or psychoeducation. Infants in both classrooms made substantial gains in social-communication, play, and cognition during a brief, 8-week period. All infants gained over an average of 10 points in DQ and increased in standardized measures of social-communication and play, with these gains maintaining at a 2-month follow-up visit. The classroom that also received JASPER increased in child initiated joint engagement and play level during dyadic interactions with their parents, while the classroom that received psychoeducation increased in joint attention during a standardized assessment delivered by an independent assessor. Infant familial risk for autism (older sibling with autism) also moderated the effect of treatment on child initiated joint engagement where infants in the JASPER classroom without familial risk made the most gains from baseline to exit of the program. This study highlights the promise of intervening at the earliest stages to promote positive outcomes for children and families.

Abstract Urban green areas contribute to climate change mitigation, support biodiversity and host a wide range of social values important for urban residents. Understanding the interplay between social values, biodiversity and carbon flow in urban green areas is vital for socially sustainable urban climate and biodiversity policy, but relationships between the three remain poorly explored. We assessed spatial and non‐spatial relationships between relational and intrinsic social values, biodiversity and carbon flow, in green areas across Helsinki, Finland, using logistic regression and spatial overlap analyses. To achieve this, we utilized pre‐existing datasets on modelled biodiversity and carbon flow, and a public participation GIS (PPGIS) survey dataset depicting over 16,000 spatially referenced social values for green areas mapped by a sample of 3237 residents of Helsinki. We found that non‐spatial relationships between social values, biodiversity and carbon flow are value‐specific and diverse in terms of strength, shape and direction. Spatial overlap between priority areas of social values and those of biodiversity and carbon flow was moderate and variable across different urban contexts. This diversity was further nuanced by the result that urban residents of different socio‐economic contexts valued green areas in different ways. Policy implications. Our findings imply that successfully leveraging urban green areas for simultaneous benefits to climate, biodiversity and social outcomes depends strongly on the surrounding social and ecological urban context. Key to maximizing synergies and balancing trade‐offs between the three are inclusive and participatory planning processes that jointly assess the social and ecological values of green areas. Read the free Plain Language Summary for this article on the Journal blog.

Evidence suggests autistic individuals at elevated familial likelihood of autism spectrum disorder (by virtue of having an autistic sibling) have stronger cognitive abilities on average than autistic individuals with no family history of the condition, who have a low familial likelihood of autism. Investigating phenotypic differences between community-referred infants and toddlers with autism symptoms at elevated or low familial likelihood of autism may provide important insight into heterogeneity in the emerging autism phenotype. This study compared behavioral, cognitive, and language abilities of community-referred infants and toddlers with confirmed autism symptoms at elevated (EL) or low familial likelihood of autism (LL). Participants were 121 children aged 12 to 36 months who participated in two larger randomized trials of parent-mediated interventions for children with autism symptoms. Behavioral phenotypes were compared across three groups: children with at least one autistic sibling (EL-Sibs, n = 30), those with at least one older, non-autistic sibling and no family history of autism (LL-Sibs, n = 40), and first-born children with no family history of autism (LL-FB, n = 51). EL-Sibs had less severe autism symptoms and stronger cognitive abilities than children in LL groups. While the rate of receptive language delay was similar across groups, the rate of expressive language delay was markedly lower among EL-Sibs. After controlling for age and nonverbal cognitive ability, EL-Sibs were significantly less likely to present with expressive language delay than LL-Sibs. Familial likelihood of autism may play an important role in shaping the emerging autism phenotype in infancy and toddlerhood.

Addressing factors that make it more likely for families to attrite from early intervention trials will allow researchers to ensure that families reap the full benefits of participation. This study was an analysis of 78 children (Mage = 18.38 months, SD = 5.78) at risk for autism participating in a university-based randomized controlled trial of two 8-week long early intervention programs. Overall, attrition through 8-weeks was low, approximately 13%, however by the one-year follow-up attrition rates were approximately 50%. The most consistent predictor of attrition was the distance that families had to travel to the university. These data highlight the importance of providing services and support (e.g., financial and logistic) during follow-up to families to maximize their participation.

BackgroundParents of autistic children experience increased levels of caregiver strain and adverse mental health outcomes, even in comparison to parents of children with other neurodevelopmental disabilities. Previous studies have largely attributed these increased levels of mental health concerns to their child behavioral concerns and autism symptomatology, but less attention has been given to other potential child factors, such as child adaptive functioning. Additionally, little is known about potential protective factors, such as parents' emotion regulation (ER) abilities, that may ameliorate the experience of caregiver strain, anxiety, and depression.ObjectiveThe current study examined the impact of child characteristics (restricted and repetitive behaviors, adaptive functioning and behavioral concerns) on parent mental health outcomes (caregiver strain, anxiety, depression and wellbeing). Additionally, we explore parents' ER abilities as a moderator of the impact of child characteristic on parents' mental health outcomes.ResultsResults of linear mixed effect models indicated a significant relationship between parents' ER abilities and all four parent outcomes. Additionally, children's adaptive functioning abilities and repetitive behaviors (RRBs) were significant predictors of caregiving strain. Parents' ER abilities were a significant moderator of the effect of children's repetitive behaviors and adaptive functioning challenges on caregiver strain, such that better ER abilities mitigated the impact of child clinical factors on caregiver strain. Finally, a significant difference was detected for mothers' and fathers' mental health, with mothers reporting higher caregiver strain, and more symptoms of anxiety and depression than did fathers.ConclusionThis study leveraged a large sample of autistic children and their biological parents to examine the relationship between children's clinical characteristics and parents' psychological wellbeing. Results indicate that, although parents of autistic children do experience high rates of internalizing mental health concerns that relate to child adaptive functioning and RRBs, parent ER abilities act as a protective factor against parents' adverse mental health outcomes. Further, mothers in our sample reported significantly higher rates of depression, anxiety, and caregiver strain, as compared with fathers.

Most genetic studies consider autism spectrum disorder (ASD) and developmental disorder (DD) separately despite overwhelming comorbidity and shared genetic etiology. Here, we analyzed de novo variants (DNVs) from 15,560 ASD (6,557 from SPARK) and 31,052 DD trios independently and also combined as broader neurodevelopmental disorders (NDDs) using three models. We identify 615 NDD candidate genes (false discovery rate [FDR] < 0.05) supported by ≥1 models, including 138 reaching Bonferroni exome-wide significance (P < 3.64e-7) in all models. The genes group into five functional networks associating with different brain developmental lineages based on single-cell nuclei transcriptomic data. We find no evidence for ASD-specific genes in contrast to 18 genes significantly enriched for DD. There are 53 genes that show mutational bias, including enrichments for missense (n = 41) or truncating (n = 12) DNVs. We also find 10 genes with evidence of male- or female-bias enrichment, including 4 X chromosome genes with significant female burden (DDX3X, MECP2, WDR45, and HDAC8). This large-scale integrative analysis identifies candidates and functional subsets of NDD genes.

Traditional longitudinal modeling approaches require normally distributed data and do not account for sample heterogeneity. Parenting stress, in particular, can be difficult to model across time without transforming the data as it is usually high for caregivers of children with ASD. This study used novel linear quantile mixed models (LQMMs) to model non-normal parent stress scores across two caregiver-mediated interventions involving toddlers with ASD. The sample included 86 caregiver-child dyads who were randomized to either a parent-only psychoeducational intervention or hands-on parent training in a naturalistic developmental intervention. Child and parent-related domains of the Parenting Stress Index (PSI) were the primary outcomes in this study. The PSI was collected at entry, 10-week exit, 3-month follow-up, and 6-month follow-up periods. Separate LQMMs were used to model five specific quantiles ( τ=0.1,0.25,0.5,0.75,and0.9) of the two PSI domains across the complete intervention timeline. These five quantiles effectively modeled the entire conditional distribution of parenting stress scores. The LQMMs indicated that child-related parenting stress decreased across all quantiles within both interventions, with no difference in the rate of parenting stress change between the intervention groups. For parent-related parenting stress, the effect of intervention depended on the group's stress level; some parents increased their perceived stress within the hands-on intervention at the 3-month follow-up. Overall, this study demonstrated that the use of LQMMs yielded additional information, beyond traditional longitudinal models, regarding the relationship between parenting stress within two caregiver-mediated intervention protocols. This study also discussed the methodological contributions and potential future applications of LQMMs. LAY SUMMARY: This study used a newer longitudinal modeling technique to examine how parenting stress changed across two caregiver-mediated interventions for toddlers with ASD. Results showed that certain parents in the JASPER condition might require additional support as they exit the study and enter into their first follow-up period. It was also determined that this new modeling technique could be a valuable tool to analyze highly variable data often present in ASD intervention studies.

Lay abstractChildren with autism spectrum disorder sometimes have challenges with regulating their negative emotions. These difficulties can impact children's social outcomes and how well they respond to intervention. We know that caregivers of children with autism spectrum disorder can help their children regulate negative emotions in a process known as co-regulation, but not much is known about how child and caregiver strategy use impacts children's negativity in real time. In this study, 71 caregivers of toddlers with autism spectrum disorder were asked to encourage their child to unlock a locked toy box, a task which is designed to elicit frustration. Video observations of the participants completing the task were used to examine whether specific child and caregiver behaviors increased or decreased the likelihood that the child will become upset. No child strategies were predictive of a decreased likelihood of a child becoming upset, but when children used high-energy behaviors that did not serve a purpose, such as running back and forth, they were more likely to then show signs of being upset a few seconds later. The way that caregivers responded to their child was a potent caregiver predictor of the likelihood of children's negativity, with caregivers' unresponsiveness and proactiveness both emerging as salient predictor of increased likelihood of the child being upset a few moments later. These findings give insight into how children with autism spectrum disorder and their caregiver navigate challenging and frustrating tasks, and have the potential to influence clinical practice by giving an indication off which parent and child behaviors are most effective in reducing children's negativity while interacting with parents and caregivers.

Background: Numerous studies have shown that racial/ethnic minority and under-resourced families face barriers that delay timely access to autism services. These barriers include lack of resources and information about autism, financial hardship, mistrust in the service system, cultural and language mismatch, and other factors that have yet to be identified. Method: The current study aimed to examine additional caregiver and system-level factors that could be associated with early service access using a diverse sample from four study sites (Los Angeles, CA; Philadelphia, PA; Sacramento, CA; and Rochester, NY). Partnering with community agencies that serve traditionally underrepresented groups, the research team recruited 118 caregivers of young children with autism who were low-income, English, Spanish or Korean speaking and had not accessed autism-specific services. Results: Regression analyses revealed that the total number of services accessed were associated with caregiver social network size (p = 0.011) but not by race, autism knowledge and caregiver agency. Among families receiving at least one non-autism specific service, a marginally significant interaction effect of site and primary language on total services received was observed (p = 0.06). Conclusion: Findings suggest that caregivers’ social network connections are crucial in early service access, and future interventions could target increasing social networks to improve families’ service engagement. More attention for non-English speaking families, especially those living in areas with few supports in their native languages, is needed.

Research investigating how urban greenery contributes toward carbon sequestration and storage (CSS) is mushrooming, and evidence-based design, management, and planning approaches are increasingly guiding the implementation of carbon-oriented nature-based solutions (NBS) in cities. However, the long-term success of NBS will largely depend on their social acceptability to residents, which in-turn is informed by their perceptions of the environmental issues at stake. In this study, we investigate residents’ perceptions of CSS in urban greenery and examine its influence on social acceptability of carbon-oriented NBS. We administered a survey containing nine hypothetical carbon-oriented NBS policies, and open-ended descriptions of the perceptions of CSS in urban greenery to 1,600 adult residents in Helsinki, Finland. Findings show that residents’ perceptions of CSS are primarily built on ecological dimensions (i.e., ecology of carbon and the carbon cycling in natural and semi-natural ecosystems) rather than socio-political ones (i.e., how humans, social, and political systems influence carbon cycling and dynamics in urban greenery). This finding shows an informational and perceptual gap among the public on how to design, manage, and plan urban greenery for CSS. We observed that females and those with higher levels of education and access to forest and natural areas tended to be more comfortable and familiar with CSS and believed urban greenery was effective in CSS. Lastly, we observed that socio-political and ineffectiveness CSS perceptual dimensions were more strongly related to social acceptability of carbon-oriented NBS. We conclude by discussing how public perceptions of CSS can enhance the social acceptance of carbon-oriented NBS, and we put forward strategies to integrate transformative learning about these NBS into urban greenery.

Tuberous sclerosis complex (TSC) is a rare genetic syndrome that confers risk for neurodevelopmental disorders, including autism spectrum disorder and intellectual disability. Delays in social communication and early cognitive abilities are observable as early as 9 months of age in children with TSC; however, there have been no studies of early behavioral intervention in TSC. We conducted a pilot study of an evidence-based, parent-mediated behavioral intervention focused on improving early social communication and play skills in 5 children with TSC (aged 1-3 years). Participants showed maintenance and sometimes gains in developmental abilities, relative to peers, following intervention. Parents generally found the intervention to be helpful and were able to administer the intervention with fidelity. Preliminary results demonstrate initial feasibility of an early play-based, parent-mediated intervention and support the need for a large-scale, randomized clinical trial in TSC.

Children with autism spectrum disorder exhibit challenges in regulating negativity and modifying emotional responses, a process known as emotion regulation. Such challenges affect social outcomes and response to intervention in children with autism spectrum disorder. Caregivers of children with autism spectrum disorder facilitate children's emotion regulation through a process known as co-regulation, but there have been no attempts to describe how dyadic use of strategies interact to impact the likelihood of negativity in real time. This study used video observations of 71 toddlers (mean age = 31.2 months) with autism spectrum disorder and their caregivers engaged in a frustrating, goal-oriented task. A mixed-effects logistic regression revealed that caregivers' use of co-regulation strategies was not a significant predictor of changes in the likelihood children's expressed negativity. Caregiver unresponsiveness and proactiveness, however, predicted increased likelihood of children's subsequent negativity. Children's use of high energy, non-instrumental behaviors (tension release), was also a robust predictor of increased likelihood of subsequent negativity. These findings shed a light on the effectiveness of child and caregiver strategies in facilitating emotion regulation in toddlers with autism spectrum disorder.

Intergenerational justice (IGJ) has long been utilized in academic contexts such as philosophy and political theory. However, IGJ has increasingly become politicized. That is, it has been translated into more tangible ideas and discourses for public scrutiny, contestation, and action. This politicization is strongly represented by youth activism, which has utilized the concept to demand urgent political action and to defend the right to be included and represented in decision-making processes, particularly regarding climate change-related issues. The central topic of discussion in this perspective article is the strategic identification of youth inclusion with IGJ, and specifically the risks involved in accepting this identification. In this article we focus on urban environmental planning and argue that it is important to separate the practice of youth inclusion and the concept of IGJ to address these concerns and explore alternative strategies for incorporating IGJ in urban environmental planning. We then proceed to explore potential urban environmental planning approaches that are more intergenerationally just and conclude by critically reflecting on how the current political economy enables or hinders a more intergenerationally just approach to urban environmental planning.

IntroductionChildren with autism spectrum disorder (ASD) benefit when their caregivers can effectively advocate for appropriate services. Barriers to caregiver engagement such as provider mistrust, cultural differences, stigma, and lack of knowledge can interfere with timely service access. We describe Mind the Gap (MTG), an intervention that provides education about ASD, service navigation, and other topics relevant to families whose children have a new ASD diagnosis. MTG was developed via community partnerships and is explicitly structured to reduce engagement barriers (e.g., through peer matching, meeting flexibility, culturally-informed practices). We also present on the results of a pilot of MTG, conducted in preparation for a randomized controlled trial.MethodsMTG was evaluated using mixed methods that included qualitative analysis and pre/post-test without concurrent comparison group. Participants (n=9) were primary caregivers of children (ages 2-7 years) with a recent ASD diagnosis and whose annual income was at or below 185% of the federal poverty level. In order to facilitate trust and relationship building, peer coaches delivered MTG. The coaches were parents of children with ASD who we trained to deliver the intervention. MTG consisted of up to 12 meetings between coaches and caregivers over the course of 18 weeks. Coaches delivered the intervention in homes and other community locations. Coaches shared information about various "modules," which were topics identified as important for families with a new ASD diagnosis. Coaches worked with families to answer questions, set weekly goals, assess progress, and offer guidance. For the pilot, we focused on three primary outcomes: feasibility, engagement, and satisfaction. Feasibility was measured via enrollment and retention data, as well as coach fidelity (i.e., implementation of MTG procedures). Engagement was measured via number of sessions attended and percentage completion of the selected outcome measures. For completers (n=7), satisfaction was measured via a questionnaire (completed by caregivers) and open-ended interviews (completed by caregivers and coaches).ResultsWe enrolled 56% of referred caregivers and 100% of eligible families. Retention was high (78%). Coaches could deliver the intervention with fidelity, completing, on average, 83% of program components. Engagement also was high; caregivers attended an average of 85% of total possible sessions and completed 100% of their measures. Caregivers indicated moderately high satisfaction with MTG. Qualitative data indicated that caregivers and coaches were positive about intervention content, and the coach-caregiver relationship was important. They also had suggestions for changes.ConclusionMind the Gap demonstrates evidence of feasibility, and data from the pilot suggest that it addresses intervention engagement barriers for a population that is under-represented in research. The results and suggestions from participants were used to inform a large-scale RCT, which is currently underway. Overall, MTG shows promise as an intervention that can be feasibly implemented with under-resourced and ethnic minority families of children with ASD.Trial registrationThis study is registered with ClinicalTrials.gov: NCT03711799.

Efforts to decrease disparity in diagnosis and treatment for under-resourced children with developmental delays, such as autism spectrum disorder, have led to increased interest in developing programs in community settings. One potential setting that has already demonstrated feasibility in conducting universal screening is the childcare setting. The current study conducted developmental screening in a total of 116 children ages 16-80 months of age in an urban low-income community childcare center. Parents of 20 children who screened positive were enrolled in the intervention phase of the study, where children received a staff-delivered targeted early intervention or a waitlist control condition. Given the small and imbalanced sample sizes, confidence intervals from mixed effect models were used to measure changes across time for each group. Of the children who received treatment, there was an average increase in child initiated joint engagement, symbolic play, and language use. This study provides initial feasibility data for the implementation of a screening and early intervention program to service a predominantly low-resource and ethnically diverse population within the childcare system in a large metropolitan city. Autism Res 2019, 12: 1423-1433. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Identifying and delivering treatment services for young children with developmental delays, such as autism spectrum disorder, may be most successful in community settings, especially for those children from under-resourced areas. This study found preliminary evidence that the childcare setting is a good place to conduct screening and deliver early interventions for children at risk for autism and other developmental delays.

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BackgroundParents of autistic children experience increased levels of caregiver strain and adverse mental health outcomes, even in comparison to parents of children with other neurodevelopmental disabilities. Previous studies have largely attributed these increased levels of mental health concerns to their child behavioral concerns and autism symptomatology, but less attention has been given to other potential child factors, such as child adaptive functioning. Additionally, little is known about potential protective factors, such as parents’ emotion regulation (ER) abilities, that may ameliorate the experience of caregiver strain, anxiety, and depression.ObjectiveThe current study examined the impact of child characteristics (restricted and repetitive behaviors, adaptive functioning and behavioral concerns) on parent mental health outcomes (caregiver strain, anxiety, depression and wellbeing). Additionally, we explore parents’ ER abilities as a moderator of the impact of child characteristic on parents’ mental health outcomes.ResultsResults of linear mixed effect models indicated a significant relationship between parents’ ER abilities and all four parent outcomes. Additionally, children’s adaptive functioning abilities and repetitive behaviors (RRBs) were significant predictors of caregiving strain. Parents’ ER abilities were a significant moderator of the effect of children’s repetitive behaviors and adaptive functioning challenges on caregiver strain, such that better ER abilities mitigated the impact of child clinical factors on caregiver strain. Finally, a significant difference was detected for mothers’ and fathers’ mental health, with mothers reporting higher caregiver strain, and more symptoms of anxiety and depression than did fathers.ConclusionThis study leveraged a large sample of autistic children and their biological parents to examine the relationship between children’s clinical characteristics and parents’ psychological wellbeing. Results indicate that, although parents of autistic children do experience high rates of internalizing mental health concerns that relate to child adaptive functioning and RRBs, parent ER abilities act as a protective factor against parents’ adverse mental health outcomes. Further, mothers in our sample reported significantly higher rates of depression, anxiety, and caregiver strain, as compared with fathers.

The purpose of this review was to estimate the impact of parent engagement strategies tested with underrepresented families of young children with social, emotional, or behavioral disorders, and describe the combinations in which these strategies are commonly used together. We conducted a systematic review using the PracticeWise Engagement Coding System to identify which strategies had the strongest empirical support for engaging underrepresented (i.e., minority race or ethnicity, or low income) families receiving psychosocial services for their children. Social network analyses were used to identify the frequency of strategy use and how strategies were combined to engage underrepresented families. Linear regression was used to estimate the impact of each strategy on parent engagement, using attrition as a proxy for non-engagement. Thirty-five studies met inclusion criteria. Parent attrition was predicted by larger sample sizes, lower maternal education, interventions that were more community or home-based, less therapist monitoring, positive reinforcement from therapists, and more pairing families with peers. Social network analyses suggested that more effective strategies were more frequently implemented alone and less effective strategies were commonly combined with each other. Our findings suggest that researchers and practitioners require guidance in selecting engagement strategies to reduce attrition of underrepresented families in treatment. Although we identified promising strategies for improving parent engagement in treatment for underrepresented children with social, emotional, or behavioral disorders, the frequent combining of engagement strategies in research means that there is little data on the independent effects of interventions to increase parent engagement for this population.

The Simons Foundation Autism Research Initiative (SFARI) has launched SPARKForAutism.org, a dynamic platform that is engaging thousands of individuals with autism spectrum disorder (ASD) and connecting them to researchers. By making all data accessible, SPARK seeks to increase our understanding of ASD and accelerate new supports and treatments for ASD.

Restricted and repetitive behaviors (RRBs) are a core feature of autism spectrum disorder (ASD). Compared to the social-communication impairments, we know considerably less about why children engage in RRBs and if and how to intervene with these behaviors. As a result, early intervention has typically focused on social-communication. In this study, we were interested in understanding how child RRBs changed following an intervention targeting social-communication behaviors and if caregiver training changed how they responded to their childs RRBs. Eighty-six toddlers with ASD and their caregivers received one of two interventions: caregivers were either actively coached while playing with their child (JASPER) or attended information sessions about ASD. On three different occasions (when they entered the study, following 10 weeks of intervention and 6-months after) caregivers were filmed playing with their child. From these recordings, we coded child RRBs and caregiver responses to these behaviors. Child RRBs remained relatively stable following intervention in both groups, but increased when the children returned at 6-months. Caregivers who received one-on-one coaching (JASPER) responded to a greater number of their childs RRBs and their responses were rated as more successful. Our study showed that a short-term social-communication intervention delivered through caregivers had spillover effects on how they also responded to their childs RRBs. Interventions targeting social-communication behaviors should also examine how these treatments affect child RRBs and how caregiver responses to these behaviors may change following training. Autism Res 2017, 10: 983-992. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

BackgroundOne of the most common genetic variants associated with autism spectrum disorder (ASD) are duplications of chromosome 15q11.2-q13.1 (Dup15q syndrome). To identify distinctive developmental and behavioral features in Dup15q syndrome, we examined the social communication, adaptive, and cognitive skills in clinic-referred subjects and compared the characteristics of children with Dup15q syndrome to age/IQ-matched children with non-syndromic ASD. Behavior and development were also analyzed within the Dup15q group for differences related to copy number or epilepsy.MethodsParticipants included 13 children with Dup15q syndrome and 13 children with non-syndromic ASD, matched on chronological and mental age, ages 22 months-12 years. In the Dup15q group, ten participants had isodicentric and three had interstitial duplications. Four children had active epilepsy (all isodicentric). Participants were assessed for verbal and non-verbal cognition, ASD characteristics based on the Autism Diagnostic Observation Schedule (ADOS), and adaptive function based on the Vineland Adaptive Behavior Scales (VABS). Group comparisons were performed between Dup15q and ASD participants, as well as within the Dup15q group based on duplication type and epilepsy status.ResultsAll children with Dup15q syndrome met the criteria for ASD; ASD severity scores were significantly lower than children in the non-syndromic ASD group. ADOS profiles demonstrated a relative strength in items related to social interest. Children with Dup15q syndrome also demonstrated significantly more impairment in motor and daily living skills. Within the Dup15q group, children with epilepsy demonstrated significantly lower cognitive and adaptive function than those without epilepsy.ConclusionsThe relative strength observed in social interest and responsiveness in the context of impaired motor skills represents an important avenue for intervention, including aggressive treatment of epilepsy, early and consistent focus on motor skills, and intervention targeting joint attention and language within a play context, in order to build on social interest to further develop social communication abilities. Longitudinal research beginning in early development will elucidate the temporal relationships between developmental domains and neurological comorbidities in these children at high risk for neurodevelopmental disorders.

ObjectiveTo determine the extent to which deficits associated with autism spectrum disorder (ASD) in toddlers with tuberous sclerosis complex (TSC) overlap with those in toddlers with nonsyndromic ASD (nsASD) and to examine cognitive function and epilepsy severity in toddlers with TSC and comorbid ASD. This is the endpoint analysis from a longitudinal investigation of ASD risk factors in children with TSC.MethodsMeasures included the Autism Diagnostic Observation Schedule (ADOS), the Mullen Scales of Early Learning, and clinical epilepsy variables. A repeated-measures analysis of variance was performed with between-subjects factor of group (typically developing, TSC/no ASD, TSC/ASD, nsASD) and within-subjects factors of individual ADOS item scores in the social communication and repetitive behavior/restricted interest domains. Within the TSC group, comparisons of epilepsy characteristics and cognitive domains were performed using independent-samples t tests.ResultsChildren with TSC/ASD demonstrated a profile of social communication impairment that had complete convergence with nsASD. Measured social communication impairments included gestures, pointing, eye contact, responsive social smile, and shared enjoyment. This convergence was observed despite the high comorbidity between ASD and cognitive impairment in TSC.ConclusionsThis study supports the clinical diagnosis of ASD in young children with TSC and demonstrates remarkable convergence of autism symptoms between TSC/ASD and nsASD. Our results strongly suggest the need for early intervention in toddlers with TSC, with treatment strategies targeting social communication function as well as broader developmental domains, before the onset of autism symptoms.

Enhancing immediate and contingent responding by caregivers to children's signals is an important strategy to support social interactions between caregivers and their children with autism. Yet, there has been limited examination of parents' responsive behaviour in association with children's social behaviour post caregiver-mediated intervention. Eighty-five dyads were randomized to one of two 10-week caregiver-training interventions. Parent-child play interactions were coded for parental responsivity and children's joint engagement. Significant gains in responsivity and time jointly engaged were found post JASPER parent-mediated intervention over a psychoeducation intervention. Further, combining higher levels of responsive behaviour with greater adoption of intervention strategies was associated with greater time jointly engaged. Findings encourage a focus on enhancing responsive behaviour in parent-mediated intervention models.

BackgroundBehavioral interventions are commonplace in the treatment of autism spectrum disorders, yet relatively little is known about how and why these interventions work. This study tests the relationship between isolated core components of a packaged social communication intervention and the primary outcome, joint engagement, to better understand how the intervention is affecting change in individuals.MethodsA total of 86 toddlers and their parents were enrolled in the study and randomized to one of two treatments, the joint attention, symbolic play, engagement, and regulation (JASPER) parent-mediated intervention or a psychoeducational intervention. Measures regarding the parent's use of intervention strategies were collected before and after the 10-week intervention. Additional measures of child and parent joint engagement were also collected.ResultsA significant effect of treatment was found for all four of the core strategies of the intervention, favoring a larger increase in the JASPER condition. A hierarchical linear regression revealed several individual predictors of joint engagement, including parent-rated buy-in, interventionist-rated parent involvement, and parental use of strategies. To complement the hierarchical analysis, we also tested the potential mediating effect the strategies may have on the relationship between treatment and joint engagement. Results showed that the strategy of mirrored pacing mediated the relationship between treatment and joint engagement in the positive direction.ConclusionsThese results strongly suggest that the mirrored pacing strategy is an active ingredient of the JASPER treatment.