Socio-communicative Impairments Research Articles

Atypical cerebellar functional connectivity at 9 months of age predicts delayed socio-communicative profiles in infants at high and low risk for autism.

While the cerebellum is traditionally known for its role in sensorimotor control, emerging research shows that particular subregions, such as right Crus I (RCrusI), support language and social processing. Indeed, cerebellar atypicalities are commonly reported in autism spectrum disorder (ASD), a neurodevelopmental disorder characterized by socio-communicative impairments. However, the cerebellum's contribution to early socio-communicative development remains virtually unknown. Here, we characterized functional connectivity within cerebro-cerebellar networks implicated in language/social functions in 9-month-old infants who exhibit distinct 3-year socio-communicative developmental profiles. We employed a data-driven clustering approach to stratify our sample of infants at high (n = 82) and low (n = 37) familial risk for ASD into three cohorts-Delayed, Late-Blooming, and Typical-who showed unique socio-communicative trajectories. We then compared the cohorts on indices of language and social development. Seed-based functional connectivity analyses with RCrusI were conducted on infants with fMRI data (n = 66). Cohorts were compared on connectivity estimates from a-priori regions, selected on the basis of reported coactivation with RCrusI during language/social tasks. The three trajectory-based cohorts broadly differed in social communication development, as evidenced by robust differences on numerous indices of language and social skills. Importantly, at 9 months, the cohorts showed striking differences in cerebro-cerebellar circuits implicated in language/social functions. For all regions examined, the Delayed cohort exhibited significantly weaker RCrusI connectivity compared to both the Late-Blooming and Typical cohorts, with no significant differences between the latter cohorts. We show that hypoconnectivity within distinct cerebro-cerebellar networks in infancy predicts altered socio-communicative development before delays overtly manifest, which may be relevant for early detection and intervention. As the cerebellum is implicated in prediction, our findings point to probabilistic learning as a potential intermediary mechanism that may be disrupted in infancy, cascading into alterations in social communication.

Motor synergies: Evidence for a novel motor signature in autism spectrum disorder

In autism spectrum disorder (ASD), socio-communicative impairments and stereotypical behaviours are paralleled by sensorimotor deficits. Individuals with ASD show an altered selection of motor parameters, resulting in clumsy and fragmented actions. Here, we investigated inter-joint coordination and motor synergies as a potential substrate of motor control problems in ASD. Synergies enable co-controlling redundant motor degrees of freedom (DoF, e.g. joint angles, muscles) by mapping behavioural goals into a flexible and low-dimensional set of variables. This mechanism simplifies motor control and helps to find unambiguous solutions for motor tasks. In a reaching-grasping paradigm, children with ASD showed reduced coupling between DoF, which correlated with socio-communicative symptoms severity. Impaired synergies may help to frame well-established motor problems in ASD, including impaired motor sequencing and abnormal trial-to-trial motor variability. On the other hand, synergies also provide an effective and compact coding system of observed actions. Impaired synergies may thus jeopardize motor interaction by initiating bottom-up cascade effects, leading to pervasive impairments of social behaviour. Finally, we trained an automatic classification algorithm to distinguish between ASD and typically developing (TD) participants based on reaching-grasping kinematics. Classification accuracy reached up to 0.947. This result corroborates and expands previous accounts claiming that motor-based early recognition is feasible and effective in ASD.

P.318 Neurobiological marker and intervention for socio-communicative impairments in autism spectrum disorders

P.318 Neurobiological marker and intervention for socio-communicative impairments in autism spectrum disorders

Heterogeneity of Visual Preferences for Biological and Repetitive Movements in Children With Autism Spectrum Disorder.

Previous studies have repeatedly reported atypical visual preferences to repetitive movements and deficient perception of biological movements in individuals with autism spectrum disorder (ASD). However, limited research has investigated the heterogeneity of the visual preferences in individuals with ASD. In the current study, we explored the visual preferences to different movement types (repetitive, biological, and random) in children with ASD using a paired preferential looking paradigm. Thirty-nine children with ASD and 37 typically developing (TD) children participated in our study, with their eye movements recorded as the index of visual preferences. We examined the differences of visual preferences between the ASD and TD group, and the heterogeneity of visual preferences within the ASD group. We found group differences between children with ASD and TD children: Overall, the ASD group preferred repetitive movements while the TD group preferred biological movements. We also detected heterogeneity of visual preferences within the ASD group: Although the majority of children with ASD preferred repetitive movements as previous studies reported, 9 out of 39 children with ASD preferred biological movements similarly as their TD peers. Moreover, the visual preference patterns were correlated with autistic symptoms, especially the socio-communicative impairments. Our study provided evidence of heterogeneity of visual attention and main visual preference to repetitive movements in children with ASD. The findings add to the body of literature of the heterogeneous behavioral symptoms and the atypical visual preferences in individuals with ASD. LAY SUMMARY: The current study examined visual preferences to biological, repetitive, and random movements in children with Autism Spectrum Disorder (ASD). We showed a pair of two videos representing two types of movements (random, repetitive, or biological movements) to children with ASD and typically developing children. We found the main visual preferences for repetitive movements and heterogeneity of visual attention within the ASD group. Our findings provide theoretical and methodological implications for future study of the heterogeneity in the ASD population.

Deletion of Autism Risk Gene Shank3 Disrupts Prefrontal Connectivity.

Mutations in the synaptic scaffolding protein SHANK3 are a major cause of autism and are associated with prominent intellectual and language deficits. However, the neural mechanisms whereby SHANK3 deficiency affects higher-order socio-communicative functions remain unclear. Using high-resolution functional and structural MRI in adult male mice, here we show that loss of Shank3 (Shank3B-/-) results in disrupted local and long-range prefrontal and frontostriatal functional connectivity. We document that prefrontal hypoconnectivity is associated with reduced short-range cortical projections density, and reduced gray matter volume. Finally, we show that prefrontal disconnectivity is predictive of social communication deficits, as assessed with ultrasound vocalization recordings. Collectively, our results reveal a critical role of SHANK3 in the development of prefrontal anatomy and function, and suggest that SHANK3 deficiency may predispose to intellectual disability and socio-communicative impairments via dysregulation of higher-order cortical connectivity.SIGNIFICANCE STATEMENT Mutations in the synaptic scaffolding protein SHANK3 are commonly associated with autism, intellectual, and language deficits. Previous research has linked SHANK3 deficiency to basal ganglia dysfunction, motor stereotypies, and social deficits. However, the neural mechanism whereby Shank3 gene mutations affects cortical functional connectivity and higher-order socio-communicative functions remain unclear. Here we show that loss of SHANK3 in mice results in largely disrupted functional connectivity and abnormal gray matter anatomy in prefrontal areas. We also show that prefrontal connectivity disruption is tightly linked to socio-communicative deficits. Our findings suggest that SHANK3 is a critical orchestrator of frontocortical function, and that disrupted connectivity of prefrontal areas may underpin socio-communicative impairments observed in SHANK3 mutation carriers.

Atypical Response to Caregiver Touch in Infants at High Risk for Autism Spectrum Disorder.

Atypical response to tactile input is associated with greater socio-communicative impairments in individuals with autism spectrum disorder (ASD). The current study examined overt orienting to caregiver-initiated touch in 12-month-olds at high risk for ASD (HRA) with (HRA+) and without (HRA-) a later diagnosis of ASD compared to low-risk comparison infants. Findings indicate that infants that go on to receive a diagnosis of ASD may more frequently fail to shift their attention in response to caregiver touch and when they do, they may be more likely to orient away from touch. Additionally, failure to respond to touch predicts ADOS severity scores at outcome suggesting that atypical response to touch may be an early indicator of autism severity.

Autism Scientists\u2019 Reflections on the Opportunities and Challenges of Public Engagement: A Qualitative Analysis

This article draws upon qualitative interviews in order to examine how UK based research psychologists understand public engagement activities and interactions with autistic advocates. Researchers describe public engagement as difficult and understand these difficulties as stemming from autistic impairments. In particular, it is reported that a heterogeneity of autism impairments means there is little agreement on the form research should take, while socio-communicative impairments make interactions difficult. Conversely, researchers describe autistic individuals as having the capacity to positively influence research. In this paper we discuss the nature of these claims and stress the need for autism-specific modes of engagement to be developed.

Atypical Local and Distal Patterns of Occipito-frontal Functional Connectivity are Related to Symptom Severity in Autism.

Autism spectrum disorders (ASDs) are increasingly prevalent neurodevelopmental disorders characterized by sociocommunicative impairments. Growing consensus indicates that neurobehavioral abnormalities require explanation in terms of interconnected networks. Despite theoretical speculations about increased local and reduced distal connectivity, links between local and distal functional connectivity have not been systematically investigated in ASDs. Specifically, it remains open whether hypothesized local overconnectivity may reflect isolated versus overly integrative processing. Resting state functional MRI data from 57 children and adolescents with ASDs and 51 typically developing (TD) participants were included. In regional homogeneity (ReHo) analyses, pericalcarine visual cortex was found be locally overconnected (ASD > TD). Using this region as seed in whole-brain analyses, we observed overconnectivity in distal regions, specifically middle frontal gyri, for an ASD subgroup identified through k-means clustering. While in this subgroup local occipital to distal frontal overconnectivity was associated with greater symptom severity, a second subgroup showed the opposite pattern of connectivity and symptom severity correlations. Our findings suggest that increased local connectivity in ASDs is region-specific and may be partially associated with more integrative long-distance connectivity. Results also highlight the need to test for subtypes, as differential patterns of brain-behavior links were observed in two distinct subgroups of our ASD cohort.

The categorisation of resistance: interpreting failure to follow a proposed line of action in the diagnosis of autism amongst young adults.

Many characteristics typical of autism, a neurodevelopmental condition characterised by socio-communicative impairments, are most evident during social interaction. Accordingly, procedures such as the Autism Diagnosis Observation Schedule (ADOS) are interactive and intended to elicit interactional impairments: a diagnosis of autism is given if interactional difficulties are attributed as a persistent quality of the individual undergoing diagnosis. This task is difficult, first, because behaviours can be interpreted in various ways and, second, because conversation breakdown may indicate a disengagement with, or resistance to, a line of conversation. Drawing upon conversation analysis, we examine seven ADOS diagnosis sessions and ask how diagnosticians distinguish between interactional resistance as, on the one hand, a diagnostic indicator and, on the other, as a reasonable choice from a range of possible responses. We find evidence of various forms of resistance during ADOS sessions, but it is a resistance to a line of conversational action that is often determined to be indicative of autism. However, and as we show, this attribution of resistance can be ambiguous. We conclude by arguing for reflexive practice during any diagnosis where talk is the problem, and for a commitment to acknowledge the potential impact of diagnostic procedures themselves upon results.

Parental report on socio-communicative behaviours in children with 22q11.2 deletion syndrome

ABSTRACTBackground Children with 22q11.2 deletion syndrome (22q11.2DS) are reported to have socio-communicative impairments. Although many of these children are diagnosed with intellectual disability (ID) and/or autism spectrum disorder (ASD), these populations are seldom used as control groups. Hence, information regarding syndrome-specific socio-communicative challenges is lacking.Method Parental concerns regarding everyday communication were investigated by means of the Children’s Communication Checklist-2-NL (Geurts, 2007). Twenty children with 22q11.2DS (chronological age: 6 years–13 years 3 months) were compared to 21 children with idiopathic ID and 23 children with idiopathic ID and comorbid ASD. All groups were matched for fluid intelligence (Gf), chronological age, and core language scores.Results Neglect or inadequate use of context information was more prevalent in children with 22q11.2DS than in children with idiopathic ID. Nonverbal communication seemed less impaired than in children with idiopathic ID + ASD.Conclusion Pragmatic language skills and developmental trajectories in children with 22q11.2DS merit further investigation.

Underconnected, But Not Broken? Dynamic Functional Connectivity MRI Shows Underconnectivity in Autism Is Linked to Increased Intra-Individual Variability Across Time.

Autism spectrum disorder (ASD) is characterized by core sociocommunicative impairments. Atypical intrinsic functional connectivity (iFC) has been reported in numerous studies of ASD. A majority of findings has indicated long-distance underconnectivity. However, fMRI studies have thus far exclusively examined static iFC across several minutes of scanning. We examined temporal variability of iFC, using sliding window analyses in selected high-quality (low-motion) consortium datasets from 76 ASD and 76 matched typically developing (TD) participants (Study 1) and in-house data from 32 ASD and 32 TD participants. Mean iFC and standard deviation of the sliding window correlation (SD-iFC) were computed for regions of interest (ROIs) from default mode and salience networks, as well as amygdala and thalamus. In both studies, ROI pairings with significant underconnectivity (ASD<TD) were identified. Mediation analyses showed that decreased mean iFC in the ASD groups was significantly affected by increased SD-iFC. Our study is the first to identify temporal variability across time as a significant contributing factor to the common finding of static underconnectivity in ASD. Since peak connectivity across time was not significantly reduced in ASD, static underconnectivity findings may have to be reinterpreted, suggesting that connections are not actually "broken" in ASD, but subject to greater intra-individual variability across time. Our findings indicate the need for dynamic approaches to iFC in clinical functional connectivity MRI (fcMRI) investigations.

Under-reactive but easily distracted: An fMRI investigation of attentional capture in autism spectrum disorder

For individuals with autism spectrum disorder (ASD), salient behaviorally-relevant information often fails to capture attention, while subtle behaviorally-irrelevant details commonly induce a state of distraction. The present study used functional magnetic resonance imaging (fMRI) to investigate the neurocognitive networks underlying attentional capture in sixteen high-functioning children and adolescents with ASD and twenty-one typically developing (TD) individuals. Participants completed a rapid serial visual presentation paradigm designed to investigate activation of attentional networks to behaviorally-relevant targets and contingent attention capture by task-irrelevant distractors. In individuals with ASD, target stimuli failed to trigger bottom-up activation of the ventral attentional network and the cerebellum. Additionally, the ASD group showed no differences in behavior or occipital activation associated with contingent attentional capture. Rather, results suggest that to-be-ignored distractors that shared either task-relevant or irrelevant features captured attention in ASD. Results indicate that individuals with ASD may be under-reactive to behaviorally-relevant stimuli, unable to filter irrelevant information, and that both top-down and bottom-up attention networks function atypically in ASD. Lastly, deficits in target-related processing were associated with autism symptomatology, providing further support for the hypothesis that non-social attentional processes and their neurofunctional underpinnings may play a significant role in the development of sociocommunicative impairments in ASD.

Gaze performance during face-to-face communication: A live eye tracking study of typical children and children with autism

Autism Spectrum Disorder (ASD) is characterized by socio-communicative impairments, and limited attention to other people's faces is thought to be an important underlying mechanism. Here, non-invasive eye-tracking technology was used to quantify the amount of time spent looking at another person's face during face-to-face communication in children with ASD (n=13, age 6 years) and age and IQ-matched neurotypical children (n=27, 6 years). We found that in one context of high ecological relevance – listening to an adult telling a children's story – children with ASD showed a markedly reduced tendency to look at the adult's face. In interactions between typical children and the adult, the amount of gaze to the other's face aligned between the two individuals. No such relation was found when the ASD group interacted with the adult. Despite these differences in the storytelling context, we also observed that social looking atypicalities did not generalize to another and more structured context, implying that social looking cannot not be considered fundamentally disrupted in children with ASD.

Fronto-temporal connectivity is preserved during sung but not spoken word listening, across the autism spectrum.

Co-occurrence of preserved musical function with language and socio-communicative impairments is a common but understudied feature of Autism Spectrum Disorders (ASD). Given the significant overlap in neural organization of these processes, investigating brain mechanisms underlying speech and music may not only help dissociate the nature of these auditory processes in ASD but also provide a neurobiological basis for development of interventions. Using a passive-listening functional magnetic resonance imaging paradigm with spoken words, sung words and piano tones, we found that 22 children with ASD, with varying levels of functioning, activated bilateral temporal brain networks during sung-word perception, similarly to an age and gender-matched control group. In contrast, spoken-word perception was right-lateralized in ASD and elicited reduced inferior frontal gyrus (IFG) activity which varied as a function of language ability. Diffusion tensor imaging analysis reflected reduced integrity of the left hemisphere fronto-temporal tract in the ASD group and further showed that the hypoactivation in IFG was predicted by integrity of this tract. Subsequent psychophysiological interactions revealed that functional fronto-temporal connectivity, disrupted during spoken-word perception, was preserved during sung-word listening in ASD, suggesting alternate mechanisms of speech and music processing in ASD. Our results thus demonstrate the ability of song to overcome the structural deficit for speech across the autism spectrum and provide a mechanistic basis for efficacy of song-based interventions in ASD.

The use of virtual characters to assess and train non-verbal communication in high-functioning autism.

High-functioning autism (HFA) is a neurodevelopmental disorder, which is characterized by life-long socio-communicative impairments on the one hand and preserved verbal and general learning and memory abilities on the other. One of the areas where particular difficulties are observable is the understanding of non-verbal communication cues. Thus, investigating the underlying psychological processes and neural mechanisms of non-verbal communication in HFA allows a better understanding of this disorder, and potentially enables the development of more efficient forms of psychotherapy and trainings. However, the research on non-verbal information processing in HFA faces several methodological challenges. The use of virtual characters (VCs) helps to overcome such challenges by enabling an ecologically valid experience of social presence, and by providing an experimental platform that can be systematically and fully controlled. To make this field of research accessible to a broader audience, we elaborate in the first part of the review the validity of using VCs in non-verbal behavior research on HFA, and we review current relevant paradigms and findings from social-cognitive neuroscience. In the second part, we argue for the use of VCs as either agents or avatars in the context of “transformed social interactions.” This allows for the implementation of real-time social interaction in virtual experimental settings, which represents a more sensitive measure of socio-communicative impairments in HFA. Finally, we argue that VCs and environments are a valuable assistive, educational and therapeutic tool for HFA.

Maternal communicative style in interaction with infant siblings of children with Autism

Functional aspects of infant-directed speech (IDS) in face-to-face interaction play a central role in infant development (Venuti et al. 2012b) and are important in shaping infant responsiveness (Goldstein et al. 2003), yet have rarely been examined and there is little consensus on specific infant outcomes. Infant siblings of children with autism are at increased risk of developing this disorder characterised by socio-communicative impairments and present particular challenges for parents in interaction. Using a prospective video analysis design, we had two objectives: to investigate maternal functional speech styles in interaction with these infant siblings, and to analyse the relationship between maternal functional style and infants’ cognitive, language and socio-communicative development. We found significantly lower rates of maternal responsive-contingent utterances to the infant siblings and significant associations between maternal IDS and infant test scores only for the typical dyads.

Anterior Prefrontal Hemodynamic Connectivity in Conscious 3- to 7-Year-Old Children with Typical Development and Autism Spectrum Disorder

Socio-communicative impairments are salient features of autism spectrum disorder (ASD) from a young age. The anterior prefrontal cortex (aPFC), or Brodmann area 10, is a key processing area for social function, and atypical development of this area is thought to play a role in the social deficits in ASD. It is important to understand these brain functions in developing children with ASD. However, these brain functions have not yet been well described under conscious conditions in young children with ASD. In the present study, we focused on the brain hemodynamic functional connectivity between the right and the left aPFC in children with ASD and typically developing (TD) children and investigated whether there was a correlation between this connectivity and social ability. Brain hemodynamic fluctuations were measured non-invasively by near-infrared spectroscopy (NIRS) in 3- to 7-year-old children with ASD (n = 15) and gender- and age-matched TD children (n = 15). The functional connectivity between the right and the left aPFC was assessed by measuring the coherence for low-frequency spontaneous fluctuations (0.01 – 0.10 Hz) during a narrated picture-card show. Coherence analysis demonstrated that children with ASD had a significantly higher inter-hemispheric connectivity with 0.02-Hz fluctuations, whereas a power analysis did not demonstrate significant differences between the two groups in terms of low frequency fluctuations (0.01 – 0.10 Hz). This aberrant higher connectivity in children with ASD was positively correlated with the severity of social deficit, as scored with the Autism Diagnostic Observation Schedule. This is the first study to demonstrate aberrant brain functional connectivity between the right and the left aPFC under conscious conditions in young children with ASD.

Do you have a question for me? How children with Williams syndrome respond to ambiguous referential communication during a joint activity

Research on language in individuals with Williams syndrome (WS) has been fueled by persistent theoretical controversies for two decades. These shifted from initial focus on dissociations between language and cognition functions, to examining the paradox of socio-communicative impairments despite high sociability and relatively proficient expressive language. We investigated possible sources of communicative difficulties in WS in a collaborative referential communication game. Five- to thirteen-year-old children with WS were compared to verbal mental age- and to chronological age-matched typically developing children in their ability to consider different types of information to select a speaker's intended referent from an array of items. Significant group differences in attention deployment to object locations, and in the number and types of clarification requests, indicated the use of less efficient and less mature strategies for reference resolution in WS than expected based on mental age, despite learning effects similar to those of the comparison groups, shown as the game progressed.

Altered integration of speech and gesture in children with autism spectrum disorders

The presence of gesture during speech has been shown to impact perception, comprehension, learning, and memory in normal adults and typically developing children. In neurotypical individuals, the impact of viewing co-speech gestures representing an object and/or action (i.e., iconic gesture) or speech rhythm (i.e., beat gesture) has also been observed at the neural level. Yet, despite growing evidence of delayed gesture development in children with autism spectrum disorders (ASD), few studies have examined how the brain processes multimodal communicative cues occurring during everyday communication in individuals with ASD. Here, we used a previously validated functional magnetic resonance imaging (fMRI) paradigm to examine the neural processing of co-speech beat gesture in children with ASD and matched controls. Consistent with prior observations in adults, typically developing children showed increased responses in right superior temporal gyrus and sulcus while listening to speech accompanied by beat gesture. Children with ASD, however, exhibited no significant modulatory effects in secondary auditory cortices for the presence of co-speech beat gesture. Rather, relative to their typically developing counterparts, children with ASD showed significantly greater activity in visual cortex while listening to speech accompanied by beat gesture. Importantly, the severity of their socio-communicative impairments correlated with activity in this region, such that the more impaired children demonstrated the greatest activity in visual areas while viewing co-speech beat gesture. These findings suggest that although the typically developing brain recognizes beat gesture as communicative and successfully integrates it with co-occurring speech, information from multiple sensory modalities is not effectively integrated during social communication in the autistic brain.

Functional connectivity for an “Island of sparing” in autism spectrum disorder: An fMRI study of visual search

Although autism is usually characterized with respect to sociocommunicative impairments, visual search is known as a domain of relative performance strength in this disorder. This study used functional MRI during visual search in children with autism spectrum disorder (n = 19; mean age = 13;10) and matched typically developing children (n = 19; mean age = 14;0). We selected regions of interest within two attentional networks known to play a crucial role in visual search processes, such as goal-directed selective attention, filtering of irrelevant distractors, and detection of behaviorally-relevant information, and examined activation and connectivity within and between these attentional networks. Additionally, based on prior research suggesting links between visual search abilities and autism symptomatology, we tested for correlations between sociocommunicative impairments and behavioral and neural indices of search. Contrary to many previous functional connectivity magnetic resonance imaging studies of autism that reported functional underconnectivity for task domains of weakness, we found atypically increased connectivity within and between attentional networks in autism. Additionally, we found increased functional connectivity for occipital regions, both locally and for long-distance connections with frontal regions. Both behavioral and neural indices of search were correlated with sociocommunicative impairment in children with autism. This association suggests that strengths in nonsocial visuospatial processing may be related to the development of core autistic sociocommunicative impairments.