Deconstructing the repetitive behaviour phenotype in Autism Spectrum Disorder 1 through a large population-based analysis

Objective Restricted and repetitive pattern of behaviours and interests (RRB) are a cardinal feature of autism spectrum disorder (ASD), but there remains uncertainty about how these diverse behaviours vary according to individual characteristics. This study provided the largest exploration to date of the relationship between Repetitive Motor Behaviours, Rigidity/Insistence on Sameness and Circumscribed Interests with other individual characteristics in newly diagnosed individuals with ASD. Method Participants (N = 3,647; 17.7% females; Mage = 6.6 years [SD = 4.7]) were part of the Western Australian (WA) Register for ASD, an independent, prospective collection of demographic and diagnostic data of newly diagnosed cases of ASD in WA. Diagnosticians rated each of the DSM‐IV‐TR criteria on a 4‐point Likert severity scale, and here we focused on the Repetitive Motor Behaviours, Insistence on Sameness and Circumscribed Interests symptoms. Results The associations between RRB domains, indexed by Kendall's Tau, were weak, ranging from non‐significant for both Circumscribed Interests and Repetitive Motor Behaviours to significant (.20) for Insistence on Sameness and Repetitive Motor Behaviours. Older age at diagnosis was significantly associated with lower Circumscribed Interests and significantly associated with higher Insistence on Sameness and Repetitive Motor Behaviours. Male sex was significantly associated with higher Repetitive Motor Behaviours but not Insistence on Sameness or Circumscribed Interests. Conclusions The pattern of associations identified in this study provides suggestive evidence for the distinctiveness of Repetitive Motor Behaviours, Insistence on Sameness and Circumscribed Interests, highlighting the potential utility of RRB domains for stratifying the larger ASD population into smaller, more phenotypically homogeneous subgroups that can help to facilitate efforts to understand diverse ASD aetiology and inform design of future interventions

The emergence of autism spectrum disorder: insights gained from studies of brain and behaviour in high-risk infants.

Purpose of reviewWe review studies of infants at risk for autism spectrum disorder (ASD), proposing that the earliest manifestations of disrupted brain development can shed light on prebehavioural markers of risk and mechanisms underlying the heterogeneity of ASD.Recent findingsProspective, longitudinal studies of infants at risk for ASD have revealed that behavioural signs of ASD are generally not observed until the second year of life. The developmental signs within the first year are often subtle and rooted in processes outside the core diagnostic domains of ASD, such as motor and visual perceptual function. However, studies examining early brain development and function have identified a myriad of atypicalities within the first year that are associated with risk for ASD.SummaryLongitudinal studies of high-risk infants provide a unique opportunity to identify and quantify the sources of the atypical development and developmental heterogeneity of ASD. Integration of assays of behaviour and brain in the first year of life, expansion of the definition of high risk, and coordinated efforts in multisite investigations to adequately power integrative studies will lead to new insights into mechanisms of atypical development and, ultimately, the ideal timing and target for interventions that aim to attenuate delays or impairments

The emergence of autism spectrum disorder: insights gained from studies of brain and behaviour in high-risk infants.

Purpose of reviewWe review studies of infants at risk for autism spectrum disorder (ASD), proposing that the earliest manifestations of disrupted brain development can shed light on prebehavioural markers of risk and mechanisms underlying the heterogeneity of ASD.Recent findingsProspective, longitudinal studies of infants at risk for ASD have revealed that behavioural signs of ASD are generally not observed until the second year of life. The developmental signs within the first year are often subtle and rooted in processes outside the core diagnostic domains of ASD, such as motor and visual perceptual function. However, studies examining early brain development and function have identified a myriad of atypicalities within the first year that are associated with risk for ASD.SummaryLongitudinal studies of high-risk infants provide a unique opportunity to identify and quantify the sources of the atypical development and developmental heterogeneity of ASD. Integration of assays of behaviour and brain in the first year of life, expansion of the definition of high risk, and coordinated efforts in multisite investigations to adequately power integrative studies will lead to new insights into mechanisms of atypical development and, ultimately, the ideal timing and target for interventions that aim to attenuate delays or impairments

Empathic deficits in schizophrenia : the potential role of rapid facial mimicry

Emotional facial expressions evoke rapid, involuntary, and covert facial reactions in the perceiver that are consistent with the emotional valence of the observed expression. These responses are believed to be an important low-level mechanism contributing to the experience of empathy, which some have argued rely on a simulation mechanism subserved by the human mirror neuron system (MNS). Because schizophrenia is associated with pervasive social cognitive difficulties which have been linked to structural abnormalities in the MNS network, the aim of the present study was to provide the first assessment of how rapid facial mimicry reactions (within 1000 ms poststimulus onset) are affected in schizophrenia. Activity in the corrugator supercilii and zygomaticus major muscle regions was quantified using electromyography while individuals with schizophrenia ( n = 25) and controls ( n = 25) viewed images of happy and angry facial expressions. In contrast to controls, individuals with schizophrenia demonstrated atypical facial mimicry reactions which were not associated with any clinical features of the disorder. These data provide evidence for a low-level disruption that may be contributing to empathizing deficits in schizophrenia and are discussed in relation to neuropsychological models of empathy and schizophrenia

Right frontal cortical lesions disrupt anger mimicry

The current study investigates the neural substrates of facial expression mimicry by assessing individuals with right and left lateralised frontal cortical lesions. Electromyography was used to measure spontaneous changes in electrical activity over the corrugator supercilii (brow) and zygomaticus major (cheek) muscle regions in response to happy and angry facial expressions. Individuals with right (n= 4) and left (n= 5) frontal cortical lesions and demographically matched controls (n= 9) were compared. It was shown that while all three groups mimic happy facial expressions, only controls and individuals with left frontal lesions mimic angry expressions. These data are consistent with evidence for right frontal cortical specialisation for the processing of anger

Putting Technology Into Youth Mental Health Practice

Although young people aged 16 to 25 are particularly susceptible to mental ill-health, they are difficult to engage in ongoing treatment. Meanwhile, young people are more engaged with digital technologies than ever before, with the Internet and mobile technologies reaching ubiquity in young lives. Despite this, it is unclear from the literature how young people’s high technology use may be harnessed for the better management of youth mental health problems in face-to-face treatment. To explore young people’s opinions on how technology can be used for treatment engagement and as a complement to mental health treatment, a total of 21 participants aged 16 to 25 years were consulted in two focus groups. Transcripts were analyzed using thematic analysis, with consensus coding by two independent raters. Participants were positive about the integration of technology into youth mental health practice, but indicated that identifying the client’s preferred technology was the most reliable means of engagement. They reported already using technology as an informal complement to treatment, and asserted that formal technology integration must have a clear benefit to treatment while not replacing face-to-face time. Technology use to provide support beyond discharge and between sessions was suggested as a useful means for continuity of care and to prevent relapse. While various technologies were described as engaging, easy-to-access, informative, and empowering, their benefits are not yet being harnessed in youth health services to their full potential. More research is required to better understand how to best put technology into youth mental health practice

A role for affectivity in rapid facial mimicry: an electromyographic study

Emotional expressions evoke rapid facial reactions in the perceiver that are consistent with the valence of the observed expression. We aimed to investigate whether this robust facial reaction is purely a motor matching response or instead represents underlying affective processes. Participants' (N\ua0=\ua060) corrugator supercilii and zygomaticus major muscle activity was quantified using facial electromyography (EMG) while they viewed three sets of images; (i) upright happy and angry facial expressions, (ii) inverted happy and angry facial expressions, and (iii) sad and happy eyes and mouth expressions. Participants displayed patterns of EMG responding that were consistent with the affective valence of the emotional expression, as opposed to merely matching the observed stimuli (i.e. a motor matching response). Using a novel methodological approach, these findings provide evidence for the contention that affective processing underlies rapid facial mimicry reactions

EEG power at 3 months in infants at high familial risk for autism

Background: Alterations in brain development during infancy may precede the behavioral manifestation of developmental disorders. Infants at increased risk for autism are also at increased risk for other developmental disorders, including, quite commonly, language disorders. Here we assess the extent to which electroencephalographic (EEG) differences in infants at high versus low familial risk for autism are present by 3 months of age, and elucidate the functional significance of EEG power at 3 months in predicting later development. Methods: EEG data were acquired at 3 months in infant siblings of children with autism (high risk; n = 29) and infant siblings of typically developing children (low risk; n = 19) as part of a prospective, longitudinal investigation. Development across multiple domains was assessed at 6, 9, 12, 18, 24, and 36 months. Diagnosis of autism was determined at 18–36 months. We assessed relationships between 3-month-olds’ frontal EEG power and autism risk, autism outcome, language development, and development in other domains. Results: Infants at high familial risk for autism had reduced frontal power at 3 months compared to infants at low familial risk for autism, across several frequency bands. Reduced frontal high-alpha power at 3 months was robustly associated with poorer expressive language at 12 months. Conclusions: Reduced frontal power at 3 months may indicate increased risk for reduced expressive language skills at 12 months. This finding aligns with prior studies suggesting reduced power is a marker for atypical brain function, and infants at familial risk for autism are also at increased risk for altered developmental functioning in non-autism-specific domains