Quantifying Narrative Ability in Autism Spectrum Disorder: A Computational Linguistic Analysis of Narrative Coherence

Autism Spectrum Disorder (ASD) is characterized by difficulties with social communication and functioning, and ritualistic/repetitive behaviors (American Psychiatric Association, 2013). While substantial heterogeneity exists in symptom expression, impairments in language discourse skills, including narrative, are universally observed (Tager-Flusberg, Paul, & Lord, 2005). This study applied a computational linguistic tool, Latent Semantic Analysis (LSA), to objectively characterize narrative performance in ASD across two narrative contexts differing in interpersonal and cognitive demands. Results indicated that individuals with ASD produced narratives comparable in semantic content to those from controls when narrating from a picture book, but produced narratives diminished in semantic quality in a more demanding narrative recall task. Results are discussed in terms of the utility of LSA as a quantitative, objective, and efficient measure of narrative ability

Detecting Language Impairments in Autism: A Computational Analysis of Semi-structured Conversations with Vector Semantics

Many of the most significant impairments faced by individuals with autism spectrum disorder (ASD) relate to pragmatic (i.e. social) language. There is also evidence that pragmatic language differences may map to ASD-related genes. Therefore, quantifying the social-linguistic features of ASD has the potential to both improve clinical treatment and help identify gene-behavior relationships in ASD. Here, we apply vector semantics to transcripts of semi-structured interactions with children with both idiopathic and syndromic ASD. We find that children with ASD are less semantically similar to a gold standard derived from typically developing participants, and are more semantically variable. We show that this semantic similarity measure is affected by transcript word length, but that these group differences persist after removing length differences via subsampling. These findings suggest that linguistic signatures of ASD pervade child speech broadly, and can be automatically detected even in less structured interactions

Physiological Arousal in Autism and Fragile X Syndrome: Group Comparisons and Links With Pragmatic Language

This study tested the hypothesis that pragmatic (i.e., social) language impairment is linked to arousal dysregulation in autism spectrum disorder (ASD) and fragile X syndrome (FXS). Forty boys with ASD, 39 with FXS, and 28 with typical development (TD), aged 4–15 years, participated. Boys with FXS were hyperaroused compared to boys with TD but did not differ from boys with ASD. Dampened vagal tone predicted pragmatic impairment in ASD, and associations emerged between cardiac activity and receptive/expressive vocabulary across groups. Findings support autonomic dysfunction as a mechanism underlying pragmatic impairment in ASD and suggest that biophysiological profiles are shared in ASD and FXS, which has implications for understanding the role of fragile X mental retardation-1 (FMR1, the FXS gene) in the pathophysiology of ASD

A Comparison of Pragmatic Language in Boys With Autism and Fragile X Syndrome

Impaired pragmatic language (i.e., language use for social interaction) is a hallmark feature of both autism spectrum disorder (ASD) and fragile X syndrome (FXS), the most common known monogenic disorder associated with ASD. However, few cross-population comparisons of ASD and FXS have been conducted, and it is unclear whether pragmatic language profiles in these conditions overlap

Sex differences and within-family associations in the broad autism phenotype

While there is a strong sex bias in the presentation of autism, it is unknown whether this bias is also present in subclinical manifestations of autism among relatives, or the broad autism phenotype (BAP). This study examined this question, and investigated patterns of co-occurrence of BAP traits within families of individuals with autism. Pragmatic language and personality features of the BAP were studied in 42 fathers and 50 mothers of individuals with autism using direct assessment tools used in prior family studies of the BAP. Higher rates of aloof personality style were detected among fathers, while no sex differences were detected for other BAP traits. Within individuals, pragmatic language features were associated with the social personality styles of the BAP in mothers but not fathers. A number of BAP features were correlated within spousal pairs. Finally, associations were detected between paternal BAP characteristics and the severity of children’s autism symptoms in all three domains (social, communication, and repetitive behaviors). Mother-child correlations were detected for aspects of communication only. Together, findings suggest that most features of the BAP express comparably in males and females, and raise some specific questions about how such features might inform studies of the genetic basis of autism

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

Defining key features of the broad autism phenotype: A comparison across parents of multiple- and single-incidence autism families

This study examined the frequency of personality, language, and social-behavioral characteristics believed to comprise the broad autism phenotype (BAP), across families differing in genetic liability to autism. We hypothesized that within this unique sample comprised of multiple-incidence autism families (MIAF), single-incidence autism families (SIAF), and control Down syndrome families (DWNS), a graded expression would be observed for the principal characteristics conferring genetic susceptibility to autism, in which such features would express most profoundly among parents from MIAFs, less strongly among SIAFs, and least of all among comparison parents from DWNS families, who should display population base rates. Analyses detected linear expression of traits in line with hypotheses, and further suggested differential intrafamilial expression across family types. In the vast majority of MIAFs both parents displayed BAP characteristics, whereas within SIAFs, it was equally likely that one, both, or neither parent show BAP features. The significance of these findings is discussed in relation to etiologic mechanisms in autism and relevance to molecular genetic studies

Current Developments in the Genetics of Autism: From Phenome to Genome

Despite compelling evidence from twin and family studies indicating a strong genetic involvement in the etiology of autism, the unequivocal detection of autism susceptibility genes remains an elusive goal. The purpose of this review is to evaluate the current state of autism genetics research, with attention focused on new techniques and analytic approaches. We first present a brief overview of evidence for the genetic basis of autism, followed by an appraisal of linkage and candidate gene study findings and consideration of new analytic approaches to the study of complex psychiatric conditions, namely, genome-wide association studies, assessment of structural variation within the genome, and the incorporation of endophenotypes in genetic analysis

Neuropsychological Profile of Autism and the Broad Autism Phenotype

Context: Multiple articles describe a constellation of language, personality, and social-behavioral features present in relatives that mirror the symptom domains of autism, but are much milder in expression. Studies of this broad autism phenotype (BAP) may provide a potentially important complementary approach for detecting the genes causing autism and defining associated neural circuitry by identifying more refined phenotypes that can be measured quantitatively in both affected and unaffected individuals and that are tied to functioning in particular regions of the brain. Objective: To gain insight into neuropsychological features that index genetic liability to autism. Design: Case-control study. Setting: The general community. Participants: Thirty-eight high-functioning individuals with autism and parents of autistic individuals, both with and without the BAP (n = 83), as well as control individuals. Main Outcome Measures: A comprehensive battery of neuropsychological tasks assessing social cognition, executive function, and global vs local processing strategies (central coherence). Results: Both individuals with autism and parents with the BAP differed from controls on measures of social cognition, with performance in the other 2 domains being more similar to controls. Conclusions: Data suggest that the social cognitive domain may be an important target for linking phenotype to cognitive process to brain structure in autism and may ultimately provide insight into the genes involved in autism

Developmental Markers of Genetic Liability to Autism in Parents: A Longitudinal, Multigenerational Study

Genetic liability to autism spectrum disorder (ASD) can be expressed in unaffected relatives through subclinical, genetically meaningful traits, or endophenotypes. This study aimed to identify developmental endophenotypes in parents of individuals with ASD by examining parents' childhood academic development over the school-age period. A cohort of 139 parents of individuals with ASD were studied, along with their children with ASD and 28 controls. Parents' childhood records in the domains of language, reading, and math were studied from grades K-12. Results indicated that relatively lower performance and slower development of skills (particularly language related skills), and an uneven rate of development across domains predicted ASD endophenotypes in adulthood for parents, and the severity of clinical symptoms in children with ASD. These findings may mark childhood indicators of genetic liability to ASD in parents, that could inform understanding of the subclinical expression of AS