Children with ASD establish joint attention during free-flowing toy play without face looks

Children’s ability to share attention with another person (i.e., achieve joint attention) is critical for learning about their environments in general1-3 and supporting language and object word learning in particular.1,4-14 While joint attention (JA) as it pertains to autism spectrum disorder (ASD) is often more narrowly operationalized as arising from eye gaze or explicit pointing cues alone,2,5,10,15-19 recent evidence demonstrates that JA in natural environments can be achieved more broadly through multiple other pathways beyond gaze and gestures.2,4,20-31 Here, we use dual head-mounted eye tracking to examine pathways into and characteristics of JA episodes during free-flowing parent-child toy play, comparing children with ASD to typically developing (TD) children. Moments of JA were defined objectively as both the child’s and parent’s gaze directed to the same object at the same time. Consistent with previous work in TD children,4,21,25,30-32 we found that both TD and ASD children rarely look at their parent’s face in this unstructured free play context. Nevertheless, both groups achieved similarly high rates of JA that far exceeded chance, suggesting the use of alternative pathways into JA. We characterize these alternate pathways, find they occur at similar levels across both groups, and achieve similar ends: namely, for both groups, targets of JA are named more frequently by parents in those moments than non-jointly attended objects. These findings broaden the conceptualization of JA abilities and impairment in ASD and raise questions regarding the mechanistic role of the face-gaze-mediated JA pathway in ASD.

Keywords: autism; development; dyadic interaction; eye tracking; joint attention; naturalistic play; social interaction.

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.

Acquisition of pronominal forms by children with autism spectrum disorder (ASD) continues to garner significant attention due to the unusual ways that such children produce and comprehend them. In particular, pronoun reversal errors (e.g., using the 2nd-person pronoun “you” to refer to oneself) have been noted in the speech of children with ASD since the very first report of the disorder. In more recent years, investigations of the signing of deaf children with ASD have documented a different phenomenon: palm orientation reversals, such that signs typically produced with an outward-facing palm are produced with the palm towards the signer, or vice versa. At the same time, true pronoun reversals have yet to be documented in the signing of deaf children on the autism spectrum. These two curious facts have led us to ask if there is evidence that palm orientation reversals in signed languages and pronoun reversals in spoken languages could be surface manifestations of the same underlying differences present in ASD. In this paper we seek to establish whether there is evidence for such an analogy, by comparing the ages at which the two phenomena appear in both typically-developing (TD) children and those with ASD, the frequency and consistency with which they appear, and their relationships with other linguistic and cognitive skills. Data are presented from a fingerspelling task given to a sample of 17 native-signing children with ASD and 24 native-signing TD children. We conclude that there are provocative parallels between pronoun reversals in spoken languages and palm reversals in signed languages, though more research is needed to definitively answer these questions.

Keywords: ASL; autism spectrum disorder; fingerspelling; modality; pronouns.

Parent-focused interventions have been designed to provide training and support to caregivers who are essential in achieving positive outcomes for children with intellectual and developmental disabilities (IDD). In 2020, significant crises, including the COVID-19 pandemic and continued racial tensions, profoundly impacted the livelihood of children with IDD and their families. Many ongoing efforts to address disparities among this population were halted temporarily and required further adaptations. Researchers adapted interventions and support to address the disparities impacting children with IDD and their families with limited guidance. We provide a descriptive case analysis of four parent-focused interventions that responded to the global crises to continue serving children with IDD and their families. The four distinct programs were based on applied behavior analysis and naturalistic, developmental-behavioral paradigms that were culturally adapted for families of young children with IDD from diverse cultural and socioeconomic backgrounds. We present the qualitative reports on the challenges and benefits that arose with adapting the four parent-focused interventions for telehealth implementation. We focused specifically on adaptations made in recruitment and retention, instrumentation and measurement, research staff training, and intervention delivery. We synthesize our experience with challenges and solutions in adapting parent-focused interventions for racially/ethnically and socioeconomically diverse children with IDD and their families. We conclude with recommendations for researchers and practitioners on methods for adapting parent-focused interventions to address the significant health disparities that impact racially, ethnically, and socioeconomically diverse children with IDD and their families.

Keywords: COVID-19; autism; intellectual disability; parent-focused interventions; practice; racial/ethnic diversity.

While previous work has identified the early predictors of language skills in infants at elevated familial risk (ER) and low familial risk (LR) for autism spectrum disorder (ASD), no studies to date have explored whether these predictors vary based on diagnostic outcome of ASD or no ASD. The present study used a large, multisite dataset to examine associations between a set of commonly studied predictor variables (infant gesture abilities, fine motor skills, nonverbal cognition, and maternal education level), measured at 12 months, and language skills, measured at 3 years, across three diagnostic outcome groups-infants with ASD (“ASD”), ER infants without ASD (“ER-no ASD”), and LR infants without ASD (“LR-no ASD”). Findings revealed that the predictors of language skills differed across groups, as gesture abilities were positively associated with language skills in the ER-no ASD group but negatively associated with language skills in the ASD group. Furthermore, maternal education level was positively associated with language skills in the ASD and LR-no ASD groups only. Variability in these early predictors may help explain why language skills are heterogeneous across the autism spectrum, and, with further study, may help clinicians identify those in need of additional and/or specialized intervention services that support language development. LAY SUMMARY: The present study identified predictors of language skills in infants with and without autism spectrum disorder (ASD). Maternal education level and 12-month gesture abilities predicted 3-year language skills in infants with ASD. Measuring these predictors early in life may help identify infants and families in need of additional and/or specialized intervention services that support language development.

Keywords: gesture; infant sibling; language; maternal education; motor; nonverbal cognition.

Assessment of autism spectrum disorder (ASD) relies on expert clinician observation and judgment, but objective measurement tools have the potential to provide additional information on ASD symptom severity. Diagnostic evaluations for ASD typically include the autism diagnostic observation schedule (ADOS-2), a semi-structured assessment composed of a series of social presses. The current study examined associations between concurrent objective features of child vocalizations during the ADOS-2 and examiner-rated autism symptom severity. The sample included 66 children (49 male; M = 40 months, SD = 10.58) evaluated in a university-based clinic, 61 of whom received an ASD diagnosis. Research reliable administration of the ADOS-2 provided social affect (SA) and restricted and repetitive behavior (RRB) calibrated severity scores (CSS). Audio was recorded from examiner-worn eyeglasses during the ADOS-2 and child and adult speech were differentiated with LENA SP Hub. PRAAT was used to ascertain acoustic features of the audio signal, specifically the mean fundamental vocal frequency (F0) of LENA-identified child speech-like vocalizations (those with phonemic content), child cry vocalizations, and adult speech. Sphinx-4 was employed to estimate child and adult phonological features indexed by the average consonant and vowel count per vocalization. More than a quarter of the variance in ADOS-2 RRB CSS was predicted by the combination of child phoneme count per vocalization and child vocalization F0. Findings indicate that both acoustic and phonological features of child vocalizations are associated with expert clinician ratings of autism symptom severity. LAY SUMMARY: Determination of the severity of autism spectrum disorder is based in part on expert (but subjective) clinician observations during the ADOS-2. Two characteristics of child vocalizations-a smaller number of speech-like sounds per vocalization and higher pitched vocalizations (including cries)-were associated with greater autism symptom severity. The results suggest that objectively ascertained characteristics of children’s vocalizations capture variance in children’s restricted and repetitive behaviors that are reflected in clinician severity indices.

Keywords: audio processing; objective measurement; vocalization.

Competitive interactions have a vital role in the ecology of most animal species1-3 and powerfully influence the behaviour of groups4,5. To succeed, individuals must exert effort based on not only the resources available but also the social rank and behaviour of other group members2,6,7. The single-cellular mechanisms that precisely drive competitive interactions or the behaviour of social groups, however, remain poorly understood. Here we developed a naturalistic group paradigm in which large cohorts of mice competitively foraged for food as we wirelessly tracked neuronal activities across thousands of unique interactions. By following the collective behaviour of the groups, we found neurons in the anterior cingulate that adaptively represented the social rank of the animals in relation to others. Although social rank was closely behaviourally linked to success, these cells disambiguated the relative rank of the mice from their competitive behaviour, and incorporated information about the resources available, the environment, and past success of the mice to influence their decisions. Using multiclass models, we show how these neurons tracked other individuals within the group and accurately predicted upcoming success. Using neuromodulation techniques, we also show how the neurons conditionally influenced competitive effort-increasing the effort of the animals only when they were more dominant to their groupmates and decreasing it when they were subordinate-effects that were not observed in other frontal lobe areas. Together, these findings reveal cingulate neurons that serve to adaptively drive competitive interactions and a putative process that could intermediate the social and economic behaviour of groups.

Large-scale genomic studies have identified over 100 genes associated with autism spectrum disorder (ASD); however, important phenotypic variables are captured inconsistently. In many cases, the resources required for comprehensive characterization hinder the feasibility of collecting critical information, such as intellectual ability. Thus, electronic collection of important phenotypes would greatly facilitate large-scale data collection efforts. This study assessed the utility of two electronic assessments as a proxy of cognitive ability relative to clinician-administered cognitive assessments. Ninety-two participants completed the study, including individuals with ASD (probands, n = 19), parents of probands (n = 46), and siblings without ASD (n = 27). Participants were administered the electronic-Peabody Picture Vocabulary Test, Fourth Edition (e-PPVT-4), an electronic visual reasoning (VR) test, and a clinician-administered Wechsler Abbreviated Scales of Intelligence, Second Edition (WASI-II). Probands also completed a full, in-person, cognitive assessment and Vineland Adaptive Behavior Scales, 2nd Edition. Correlations between scores on electronic and clinician-administered measures were examined. Classification accuracy of individual scores based on 95% confidence intervals and score range (below average, average, above average) were also assessed. Moderate to strong correlations were identified between both electronic measures and the clinician-administered WASI-II (ρ = 0.606–0.712). Mean difference between standard scores ranged from 10.7 to 14.8 for the cohort. Classification accuracy based on WASI-II 95% confidence interval was consistently low (27.5%–47.3%). Classification accuracy by score range (below average, average, above average) was variable, ranging from 33% to 86% for probands. All participants unable to complete the electronic assessments met DSM-5 criteria for intellectual disability. e-PPVT-4 and VR scores were strongly correlated with scores on the WASI-II full-scale IQ (ρ = 0.630, 0.712), indicating utility of these measures at the group level in large-scale genomic studies. However, the poor precision of measurement across both measures suggests that the e-PPVT-4 and VR are not useful alternatives to in-person testing for the purpose of clinical assessment of an individual’s IQ score.

Lay Summary

Large-scale studies designed to identify genes associated with autism have been successful in identifying over 100 genes. However, important clinical information about participants with autism and their family members is often missed—including cognitive functioning. Cognitive testing requires in-person administration by a trained clinician and therefore can be burdensome and often reduces feasibility of diverse samples. Here, we assessed whether electronic assessments could take the place of in-person cognitive testing. We found that at the group level, for large-scale studies, electronic measures added valuable information; however, they were not accurate enough to be used on an individual level (i.e., to offer feedback about an individual’s predicted IQ score).

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

Keywords: delayed phase; depression; sleep; sleep efficiency; young adults.


Importance: Presence of developmental delays in autism is well established, yet few studies have characterized variability in developmental milestone attainment in this population.

Objective: To characterize variability in the age at which autistic individuals attain key developmental milestones based on co-occurring intellectual disability (ID), presence of a rare disruptive genetic variant associated with neurodevelopmental disorders (NDD), age at autism diagnosis, and research cohort membership.

Design: The study team harmonized data from 4 cross-sectional autism cohorts: the Autism Genetics Research Exchange (n = 3284; 1997-2015), The Autism Simplex Collection (n = 694; 2008-2011), the Simons Simplex Collection (n = 2753; 2008-2011), and the Simons Foundation Powering Autism Research for Knowledge (n = 10 367; 2016-present). The last sample further included 4145 siblings without an autism diagnosis or ID.

Participants: Convenience sample of 21 243 autistic individuals or their siblings without an autism diagnosis aged 4 to 17 years.

Main outcomes and measures: Parents reported ages at which participants attained key milestones including smiling, sitting upright, crawling, walking, spoon-feeding self, speaking words, speaking phrases, and acquiring bladder and bowel control. A total of 5295 autistic individuals, and their biological parents, were genetically characterized to identify de novo variants in NDD-associated genes. The study team conducted time-to-event analyses to estimate and compare percentiles in time with milestone attainment across autistic individuals, subgroups of autistic individuals, and the sibling sample.

Results: Seventeen thousand ninety-eight autistic individuals (mean age, 9.15 years; 80.8% male) compared with 4145 siblings without autism or ID (mean age, 10.2 years; 50.2% female) showed delays in milestone attainment, with median (IQR) delays ranging from 0.7 (0.3-1.6) to 19.7 (11.4-32.2) months. More severe and more variable delays in autism were associated with the presence of co-occurring ID, carrying an NDD-associated rare genetic variant, and being diagnosed with autism by age 5 years. More severe and more variable delays were also associated with membership in earlier study cohorts, consistent with autism’s diagnostic and ascertainment expansion over the last 30 years.

Conclusions and relevance: As the largest summary to date of developmental milestone attainment in autism, to our knowledge, this study demonstrates substantial developmental variability across different conditions and provides important context for understanding the phenotypic and etiological heterogeneity of autism.


Autism spectrum disorder (ASD) is a neurodevelopmental disorder diagnosed based on social impairment, restricted interests, and repetitive behaviors. Contemporary theories posit that cerebellar pathology contributes causally to ASD by disrupting error-based learning (EBL) during infancy. The present study represents the first test of this theory in a prospective infant sample, with potential implications for ASD detection.


Data from the Infant Brain Imaging Study (n = 94, 68 male) were used to examine 6-month cerebellar functional connectivity magnetic resonance imaging in relation to later (12/24-month) ASD-associated behaviors and outcomes. Hypothesis-driven univariate analyses and machine learning–based predictive tests examined cerebellar–frontoparietal network (FPN; subserves error signaling in support of EBL) and cerebellar–default mode network (DMN; broadly implicated in ASD) connections. Cerebellar-FPN functional connectivity was used as a proxy for EBL, and cerebellar-DMN functional connectivity provided a comparative foil. Data-driven functional connectivity magnetic resonance imaging enrichment examined brain-wide behavioral associations, with post hoc tests of cerebellar connections.


Cerebellar-FPN and cerebellar-DMN connections did not demonstrate associations with ASD. Functional connectivity magnetic resonance imaging enrichment identified 6-month correlates of later ASD-associated behaviors in networks of a priori interest (FPN, DMN), as well as in cingulo-opercular (also implicated in error signaling) and medial visual networks. Post hoc tests did not suggest a role for cerebellar connections.


We failed to identify cerebellar functional connectivity–based contributions to ASD. However, we observed prospective correlates of ASD-associated behaviors in networks that support EBL. Future studies may replicate and extend network-level positive results, and tests of the cerebellum may investigate brain-behavior associations at different developmental stages and/or using different neuroimaging modalities.

Background: Differences in face processing in individuals with ASD is hypothesized to impact the development of social communication skills. This study aimed to characterize the neural correlates of face processing in 12-month-old infants at familial risk of developing ASD by (1) comparing face-sensitive event-related potentials (ERP) (Nc, N290, P400) between high-familial-risk infants who develop ASD (HR-ASD), high-familial-risk infants without ASD (HR-NoASD), and low-familial-risk infants (LR), and (2) evaluating how face-sensitive ERP components are associated with development of social communication skills.

Methods: 12-month-old infants participated in a study in which they were presented with alternating images of their mother’s face and the face of a stranger (LR = 45, HR-NoASD = 41, HR-ASD = 24) as EEG data were collected. Parent-reported and laboratory-observed social communication measures were obtained at 12 and 18 months. Group differences in ERP responses were evaluated using ANOVA, and multiple linear regressions were conducted with maternal education and outcome groups as covariates to assess relationships between ERP and behavioral measures.

Results: For each of the ERP components (Nc [negative-central], N290, and P400), the amplitude difference between mother and stranger (Mother-Stranger) trials was not statistically different between the three outcome groups (Nc p = 0.72, N290 p = 0.88, P400 p = 0.91). Marginal effects analyses found that within the LR group, a greater Nc Mother-Stranger response was associated with better expressive language skills on the Mullen Scales of Early Learning, controlling for maternal education and outcome group effects (marginal effects dy/dx = 1.15; p < 0.01). No significant associations were observed between the Nc and language or social measures in HR-NoASD or HR-ASD groups. In contrast, specific to the HR-ASD group, amplitude difference between the Mother versus Stranger P400 response was positively associated with expressive (dy/dx = 2.1, p < 0.001) and receptive language skills at 12 months (dy/dx = 1.68, p < 0.005), and negatively associated with social affect scores on the Autism Diagnostic Observation Schedule (dy/dx = – 1.22, p < 0.001) at 18 months.

Conclusions: In 12-month-old infant siblings with subsequent ASD, increased P400 response to Mother over Stranger faces is positively associated with concurrent language and future social skills.