Innovative approaches to the study of social phenotypes in neurodevelopmental disorders: an introduction to the research topic

R01 HD033470 - NICHD NIH HH

Assessing the prosody of minimally to nonverbal children with autism

A procedure for assessing basic prosodic perception and production abilities of minimally to nonverbal children and adolescents with autism spectrum disorder is described (AP: Assessment of Prosody). The procedure consists of three sections: an optional primer phase, a learning phase, and an assessment phase. It includes the assessment of both the perception of basic pitch accent structure distinctions (low versus high) as well as elicits expressive productions of these contrasts. The goal of the procedure is to evaluate the extent to which this population can perceive and produce prosodic distinctions. The overarching aim is to create a pre and post assessment to quantify prosodic competence and performance of minimally to nonverbal children and adolescents who are eligible for music-motor based intervention therapies (i.e. AMMT: Auditory Motor Mapping Therapy). Current and future versions of the assessment are discussed.Published versio

A multimeasure approach to investigating affective appraisal of social information in Williams syndrome

People with Williams syndrome (WS) have been consistently described as showing heightened sociability, gregariousness, and interest in people, in conjunction with an uneven cognitive profile and mild to moderate intellectual or learning disability. To explore the mechanisms underlying this unusual social–behavioral phenotype, we investigated whether individuals with WS show an atypical appraisal style and autonomic responsiveness to emotionally laden images with social or nonsocial content. Adolescents and adults with WS were compared to chronological age-matched and nonverbal mental age-matched groups in their responses to positive and negative images with or without social content, using measures of self-selected viewing time (SSVT), autonomic arousal reflected in pupil dilation measures, and likeability ratings. The participants with WS looked significantly longer at the social images compared to images without social content and had reduced arousal to the negative social images compared to the control groups. In contrast to the comparison groups, the explicit ratings of likeability in the WS group did not correlate with their SSVT; instead, they reflected an appraisal style of more extreme ratings. This distinctive pattern of viewing interest, likeability ratings, and autonomic arousal to images with social content in the WS group suggests that their heightened social drive may be related to atypical functioning of reward-related brain systems reflected in SSVT and autonomic reactivity measures, but not in explicit ratings

Prevalence and Correlates of Psychiatric Symptoms in Minimally Verbal Children and Adolescents With ASD

Despite many studies documenting the prevalence of various co-occurring psychiatric symptoms in children and adults with ASD, less is known about how these symptoms relate to subtypes defined by particular phenotypic features within the ASD population. We examined the severity and prevalence of comorbid symptoms of psychopathology, emotion dysregulation, and maladaptive behaviors, as well as adaptive functioning, in a group of 65 minimally verbal children (n = 33) and adolescents (n = 32) with ASD. On the Child and Adolescent Symptom Inventory (CASI-5), for all the symptom classifications except oppositional defiant disorder and conduct disorder, more participants in our sample showed elevated or clinically concerning severity scores relative to the general population. On the Emotion Dysregulation Inventory (EDI), the mean scores for Reactivity and Dysphoria factors in our sample were lower than in the autism calibration sample, which included a large number of inpatient youth with ASD. Overall, few differences were found between the children and adolescents within this severely impaired group of ASD individuals based on clinical cutoff scores on the CASI-5 and EDI factor scores. Psychiatric comorbidities and emotion dysregulation measures were not correlated with autism symptom severity or with measures of adaptive functioning, and were largely unrelated to IQ in our sample. The number of clinically significant psychiatric symptoms on the CASI-5 emerged as the main predictor of maladaptive behaviors. Findings suggest a wide range of co-occurring psychopathology and high degree of maladaptive behavior among minimally verbal children and adolescents with ASD, which are not directly attributable to autism symptom severity, intellectual disability or limitations in adaptive functioning

Exploring face perception in disorders of development: evidence from Williams syndrome and autism

Individuals with Williams syndrome (WS) and autism are characterized by different social phenotypes but have been said to show similar atypicalities of face-processing style. Although the structural encoding of faces may be similarly atypical in these two developmental disorders, there are clear differences in overall face skills. The inclusion of both populations in the same study can address how the profile of face skills varies across disorders. The current paper explored the processing of identity, eye-gaze, lip-reading, and expressions of emotion using the same participants across face domains. The tasks had previously been used to make claims of a modular structure to face perception in typical development. Participants with WS (N=15) and autism (N=20) could be dissociated from each other, and from individuals with general developmental delay, in the domains of eye-gaze and expression processing. Individuals with WS were stronger at these skills than individuals with autism. Even if the structural encoding of faces appears similarly atypical in these groups, the overall profile of face skills, as well as the underlying architecture of face perception, varies greatly. The research provides insights into typical and atypical models of face perception in WS and autism

Interpretation of ambiguous situations: evidence for a dissociation between social and physical threat in Williams syndrome

There is increasing evidence that Williams syndrome (WS) is associated with elevated anxiety that is non-social in nature, including generalised anxiety and fears. To date very little research has examined the cognitive processes associated with this anxiety. In the present research, attentional bias for non-social threatening images in WS was examined using a dot-probe paradigm. Participants were 16 individuals with WS aged between 13 and 34 years and two groups of typically developing controls matched to the WS group on chronological age and attentional control ability respectively. The WS group exhibited a significant attention bias towards threatening images. In contrast, no bias was found for group matched on attentional control and a slight bias away from threat was found in the chronological age matched group. The results are contrasted with recent findings suggesting that individuals with WS do not show an attention bias for threatening faces and discussed in relation to neuroimaging research showing elevated amygdala activation in response to threatening non-social scenes in WS

Uncommon genetic syndromes and narrative production - Case Studies with Williams, Smith-Magenis and Prader- Willi Syndromes

This study compares narrative production among three syndromes with genetic microdeletions: Williams syndrome (WS), Smith-Magenis syndrome (SMS), and Prader-Willi syndrome (PWS), characterized by intellectual disabilities and relatively spared language abilities. Our objective is to study the quality of narrative production in the context of a common intellectual disability. To elicit a narrative production, the task Frog! Where Are You was used. Then, structure, process, and content of the narrative process were analysed in the three genetic disorders:WS (n52), SMS (n52), and PWS (n52). Data show evidence of an overall low narrative quality in these syndromes, despite a high variability within different measures of narrative production. Results support the hypothesis that narrative is a highly complex cognitive process and that, in a context of intellectual disability, there is no evidence of particular ‘hypernarrativity’ in these syndromes.This research was supported by the grants FEDER –

Exploring different explanations for performance on a theory of mind task in Williams syndrome and Autism using eye movements

The current study explored the looking behaviours of young children with Autism Spectrum Disorders (ASD), Williams syndrome (WS), and typically developing (TD) children while they were administered a low-verbal Theory of Mind (ToM) task. Although ToM performance in both clinical groups was impaired, only participants with WS showed small differences in looking behaviour at the start of the video. Furthermore, while TD children who passed the ToM task looked longer at the original hiding place there was no such contrast in the clinical groups. This shows that looking behaviour in ASD and WS is not necessarily atypical when saliency aspects such as language, background, and colour are removed and that differences in looking behaviour cannot explain ToM performance