Signaling of noncomprehension in communication breakdowns in fragile X syndrome, Down syndrome, and autism spectrum disorder

The ability to indicate a failure to understand a message is a critical pragmatic (social) language skill for managing communication breakdowns and supporting successful communicative exchanges. The current study examined the ability to signal noncomprehension across different types of confusing message conditions in children and adolescents with fragile X syndrome (FXS), Down syndrome (DS), autism spectrum disorder (ASD), and typical development (TD). Controlling for nonverbal mental age and receptive vocabulary skills, youth with comorbid FXS and ASD and those with DS were less likely than TD controls to signal noncomprehension of confusing messages. Youth with FXS without ASD and those with idiopathic ASD did not differ from controls. No sex differences were detected in any group. Findings contribute to current knowledge of pragmatic profiles in different forms of genetically-based neurodevelopmental disorders associated with intellectual disability, and the role of sex in the expression of such profiles

Resting state EEG abnormalities in autism spectrum disorders

Autism spectrum disorders (ASD) are a group of complex and heterogeneous developmental disorders involving multiple neural system dysfunctions. In an effort to understand neurophysiological substrates, identify etiopathophysiologically distinct subgroups of patients, and track outcomes of novel treatments with translational biomarkers, EEG (electroencephalography) studies offer a promising research strategy in ASD. Resting-state EEG studies of ASD suggest a U-shaped profile of electrophysiological power alterations, with excessive power in low-frequency and high-frequency bands, abnormal functional connectivity, and enhanced power in the left hemisphere of the brain. In this review, we provide a summary of recent findings, discuss limitations in available research that may contribute to inconsistencies in the literature, and offer suggestions for future research in this area for advancing the understanding of ASD

Resting state EEG abnormalities in autism spectrum disorders

Autism spectrum disorders (ASD) are a group of complex and heterogeneous developmental disorders involving multiple neural system dysfunctions. In an effort to understand neurophysiological substrates, identify etiopathophysiologically distinct subgroups of patients, and track outcomes of novel treatments with translational biomarkers, EEG (electroencephalography) studies offer a promising research strategy in ASD. Resting-state EEG studies of ASD suggest a U-shaped profile of electrophysiological power alterations, with excessive power in low-frequency and high-frequency bands, abnormal functional connectivity, and enhanced power in the left hemisphere of the brain. In this review, we provide a summary of recent findings, discuss limitations in available research that may contribute to inconsistencies in the literature, and offer suggestions for future research in this area for advancing the understanding of ASD

A Duck Wearing Boots?! Pragmatic Language Strategies for Repairing Communication Breakdowns Across Genetically Based Neurodevelopmental Disabilities

PurposeThe ability to repair breakdowns in communication is an important pragmatic language skill that helps to maintain clear and meaningful interactions. Examining this ability in genetically based neurodevelopmental disabilities in which pragmatics are affected can provide important information about the precise pragmatic skills impacted across different populations and also help to identify core mechanisms underlying pragmatic impairment that may inform tailored interventions.MethodIndividuals with idiopathic autism spectrum disorder (ASD-O;n= 40), fragile X syndrome with comorbid autism spectrum disorder (FXS-ASD;n= 62), FXS without ASD (FXS-O;n= 38), Down syndrome (DS;n= 43), and typical development (TD;n= 42) completed a picture description task in which an examiner prompted for clarification repeatedly to elicit communication repair attempts. Participants' response strategies were compared across diagnostic groups and by sex and examined in relationship to different cognitive abilities.ResultsRelatively few group differences were observed in responses to requests for clarification overall. Males with ASD-O responded less to clarification requests than males with FXS-ASD and FXS-O, and males with FXS-ASD responded more inappropriately than males with ASD-O and DS. All male groups became less responsive to prompts for communication repair across the series of requests. Males with TD and FXS-ASD used less effective strategies than females.ConclusionAll groups showed some proficiency in repairing communication breakdowns, although individuals with ASD-O and FXS-ASD demonstrated some key areas of difficulty, highlighting the importance of considering ASD symptomatology in assessment and treatment of males with FXS. Findings also suggest that, across groups, multiple requests for clarification may lead to disengagement from the interaction. Finally, correlated skills observed across groups could implicate different underlying skills related to communication repair abilities across groups.</jats:sec

Measurement of Sleep Behaviors in Chromosome 15q11.2-13.1 Duplication (Dup15q Syndrome)

Abstract Duplication of chromosome 15q11.2-q13.1 (dup15q syndrome) results in hypotonia, intellectual disability (ID), and autism symptomatology. Clinical electroencephalography has shown abnormal sleep physiology, but no studies have characterized sleep behaviors. The present study used the Children's Sleep Habits Questionnaire (CSHQ) in 42 people with dup15q syndrome to examine the clinical utility of this questionnaire and quantify behavioral sleep patterns in dup15q syndrome. Individuals with fully completed forms (56%) had higher cognitive abilities than those with partially completed forms. Overall, caregivers indicated a high rate of sleep disturbance, though ratings differed by epilepsy status. Results suggest that clinicians should use caution when using standardized questionnaires and consider epilepsy status when screening for sleep problems in dup15q syndrome.</jats:p

Data_Sheet_1_Slower Peak Pupillary Response to Emotional Faces in Parents of Autistic Individuals.docx

BackgroundAtypical autonomic arousal has been consistently documented in autism spectrum disorder (ASD) and is thought to contribute to the social-communication phenotype of ASD. Some evidence suggests that clinically unaffected first-degree relatives of autistic individuals may also show subtle differences in indices of autonomic arousal, potentially implicating heritable pathophysiological mechanisms in ASD. This study examined pupillary responses in parents of autistic individuals to investigate evidence that atypical autonomic arousal might constitute a subclinical physiological marker of ASD heritability within families of autistic individuals.MethodsPupillary responses to emotional faces were measured in 47 ASD parents and 20 age-matched parent controls. Macro-level pupillary responses (e.g., mean, peak, latency to peak) and dynamic pupillary responses over the course of the stimulus presentation were compared between groups, and in relationship to subclinical ASD-related features in ASD parents. A small ASD group (n = 20) and controls (n = 17) were also included for exploratory analyses of parent–child correlations in pupillary response.ResultsParents of autistic individuals differed in the time course of pupillary response, exhibiting a later primary peak response than controls. In ASD parents, slower peak response was associated with poorer pragmatic language and larger peak response was associated with poorer social cognition. Exploratory analyses revealed correlations between peak pupillary responses in ASD parents and mean and peak pupillary responses in their autistic children.ConclusionDifferences in pupillary responses in clinically unaffected parents, together with significant correlations with ASD-related features and significant parent–child associations, suggest that pupillary responses to emotional faces may constitute an objective physiological marker of ASD genetic liability, with potential to inform the mechanistic underpinnings of ASD symptomatology.</p

A Multi-Method Investigation of Pragmatic Development in Individuals With Down Syndrome

Abstract This longitudinal study examined pragmatic language in boys and girls with Down syndrome (DS) at up to three time points, using parent report, standardized and direct assessments. We also explored relationships among theory of mind, executive function, nonverbal mental age, receptive and expressive vocabulary, grammatical complexity, and pragmatic competence. Controlling for cognitive and language abilities, children with DS demonstrated greater difficulty than younger typically developing controls on parent report and standardized assessments, but only girls with DS differed on direct assessments. Further, pragmatic skills of individuals with DS developed at a delayed rate relative to controls. Some sex-specific patterns of pragmatic impairments emerged. Theory of mind and executive function both correlated with pragmatic competence. Clinical and theoretical implications are discussed.</jats:p

Adapting the Tackling Teenage Training Sex Education Program for Autistic Adults in the US:A Pilot Study

Despite the established need for sexuality and relationship programming for autistic adults, there are extremely limited curricula for this population. This pilot study used an evidence-based sexuality and relationship education program for autistic adolescents (Tackling Teenage Training) as the basis for an adult-focused virtual psychoeducational group. Qualitative feedback, quantitative ratings of the programming, and behavioral surveys from participants were collected. Nine participants completed the program, and corresponding pre and post measures. Highly rated topics, for example gender identity and online dating, were consistent with previous research on what autistic adults want from a sexuality and relationship education program. Future programming should incorporate increased attention to themes and topics highlighted by participants, and should utilize the teaching tools (e.g., role play, peer discussions) identified as useful by the participants.</p