UNASSIGNED: Individuals with broad autism phenotype (BAP) showed a diminished ability to recognize emotion. This study aims to examine whether their decline in emotion recognition ability could be more clearly identified as task complexity increased and whether their decline could be influenced by their eye-gaze patterns.
UNASSIGNED: 41 individuals with BAP and 40 healthy controls performed two types of emotion recognition tasks. After confirming conditions wherein the BAP group did not perform well compared to the control group, we compared gaze proportion on faces and context between groups when performing the conditions.
UNASSIGNED: The more difficult the task, the clearer the significant relationships between the level of autistic traits and emotion recognition ability. The BAP group showed lower accuracy compared to the control group when a face with mild emotional intensity was presented with context. In terms of gaze proportion, the BAP group looked less at faces when recognizing emotions compared to the control group.
UNASSIGNED: These findings indicate that diminished emotion recognition ability in individuals with BAP may be influenced by face gaze.

OBJECTIVE: We primarily aimed to investigate the attention network function among parents of children with autism spectrum disorder (ASD) using the Attention Network Test (ANT). The secondary objective was to observe whether the three attention networks of all participants were related to each other.
METHODS: We included 28 parents of children with ASD and 28 well-matched parents of typically developing children. All participants underwent the neuropsychological assessment and ANT test. The three distinct attention networks, including alerting, orienting, and executive control, were also measured.
RESULTS: Compared with controls, parents of children with ASD showed less-efficient alerting and executive control network (all p<0.05), but not orienting network (p=0.74). No significant correlation was found between the alerting, orienting, and executive control network for either group.
CONCLUSIONS: Our findings showed that parents of children with ASD had deficits in alerting and executive control attention functions. The deficits are indications of a broad autism phenotype.

Sensory symptoms are a major source of distress for many autistic people, causing anxiety, stress, and avoidance. Sensory problems are thought to be passed on genetically together with other autistic characteristics, such as social preferences. This means that people who report cognitive rigidity and autistic-like social function are more likely to suffer from sensory issues. We do not know what role the individual senses, such as vision, hearing, smell, or touch, play in this relationship, because sensory processing is generally measured with questionnaires that target general, multisensory issues. This study aimed to investigate the individual importance of the different senses (vision, hearing, touch, smell, taste, balance, and proprioception) in the correlation with autistic traits. To ensure the results were replicable, we repeated the experiment in two large groups of adults. The first group contained 40% autistic participants, whereas the second group resembled the general population. We found that problems with auditory processing were more strongly predictive of general autistic characteristics than were problems with the other senses. Problems with touch were specifically related to differences in social interaction, such as avoiding social settings. We also found a specific relationship between proprioceptive differences and autistic-like communication preferences. The sensory questionnaire had limited reliability, so our results may underestimate the contribution of some senses. With that reservation in mind, we conclude that auditory differences are dominant over other modalities in predicting genetically based autistic traits and may therefore be of special interest for further genetic and neurobiological studies.

UNASSIGNED: Atypical 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.
UNASSIGNED: Pupillary 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.
UNASSIGNED: Parents 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.
UNASSIGNED: Differences 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.

Individuals with broad autism phenotype (BAP) have a tendency not to integrate emotional stimuli with the surrounding context. They have also shown different patterns and abilities in processing positive and negative emotions. This study aimed to examine whether the effect of context on target stimuli could vary depending on the type of target emotion in individuals with BAP. Based on the Broad Autism Phenotype Questionnaire (BAPQ) and Autism-Spectrum Quotient (AQ), 36 individuals with BAP and 33 healthy controls were selected. All the participants performed an overlap-emotional task consisting of six conditions: 2 (congruence: congruent and incongruent) × 3 (emotion: fearful, sad, and happy). Reaction time and accuracy were measured as dependent variables. The results revealed that the individuals with BAP showed no difference in reaction time between the condition of congruence and incongruence, but that the control group was faster to categorize facial expression on the condition of congruence than that of incongruence regardless of the type of target emotion. There were no differences between the two groups in any of the conditions with regard to accuracy. These findings indicate that individuals with BAP tend not to integrate target emotions with contextual information, a feature that could worsen the speed of emotional recognition in individuals with BAP. This study confirmed that the individuals with BAP have different cognition patterns in emotional recognition than the control group.

Efficient neural encoding of sound plays a critical role in speech and language, and when impaired, may have reverberating effects on communication skills. This study investigated disruptions to neural processing of temporal and spectral properties of speech in individuals with ASD and their parents and found evidence of inefficient temporal encoding of speech sounds in both groups. The ASD group further demonstrated less robust neural representation of spectral properties of speech sounds. Associations between neural processing of speech sounds and language-related abilities were evident in both groups. Parent-child associations were also detected in neural pitch processing. Together, results suggest that atypical neural processing of speech sounds is a heritable ingredient contributing to the ASD language phenotype.

Autism spectrum disorder (ASD), a heritable neurodevelopmental disorder, confers genetic liability that is often expressed among relatives through subclinical, genetically-meaningful traits, or endophenotypes. For instance, relative to controls, parents of individuals with ASD differ in language-related skills, with differences emerging in childhood. To examine ASD-related endophenotypes, this study investigated developmental academic profiles among clinically unaffected siblings of individuals with ASD (n = 29). Lower performance in language-related skills among siblings mirrored previously-reported patterns among parents, which were also associated with greater subclinical ASD-related traits in themselves and their parents, and with greater symptom severity in their sibling with ASD. Findings demonstrated specific phenotypes, derived from standardized academic testing, that may represent childhood indicators of genetic liability to ASD in first-degree relatives.

Difficulties with pragmatic language (i.e., language in social contexts, such as conversational ability) are a noted characteristic of the language profiles of both fragile X syndrome (FXS) and autism spectrum disorder (ASD), conditions which show significant phenotypic overlap. Understanding the origins and developmental course of pragmatic language problems in FXS and other developmental conditions associated with language impairment is a critical step for the development of targeted interventions to promote communicative competence across the lifespan. This study examined pragmatic language in the context of parent-child interactions in school-age children with FXS (who did and did not meet ASD criteria on the ADOS; n = 85), idiopathic ASD (n = 32), Down syndrome (DS; n = 38), and typical development (TD; n = 39), and their parents. Parent-child communicative interactions were examined across multiple contexts, across groups, and in relationship to pragmatic language outcomes assessed 2 years later. Results showed both overlapping and divergent patterns across the FXS-ASD and idiopathic ASD child and parent groups, and also highlighted key differences in pragmatic profiles based on situational context, with more pragmatic language difficulties occurring for both ASD groups in less structured interactions. Differences in parental language styles during parent-child interactions were associated with child language outcomes, likely reflecting the complex interplay of discourse style inherent to a parent, with the inevitable influence of child characteristics on parent language as well. Together, findings help delineate the dynamic and multifactorial nature of impaired pragmatic skills among children with FXS and other neurodevelopmental disorders associated with language impairment, with potential implications for the development of targeted interventions for pragmatic communication skills.

Greater facial asymmetry has been consistently found in children with autism spectrum disorder (ASD) relative to children without ASD. There is substantial evidence that both facial structure and the recurrence of ASD diagnosis are highly heritable within a nuclear family. Furthermore, sub-clinical levels of autistic-like behavioural characteristics have also been reported in first-degree relatives of individuals with ASD, commonly known as the \'broad autism phenotype\'. Therefore, the aim of the current study was to examine whether a broad autism phenotype expresses as facial asymmetry among 192 biological parents of autistic individuals (134 mothers) compared to those of 163 age-matched adults without a family history of ASD (113 females). Using dense surface-modelling techniques on three dimensional facial images, we found evidence for greater facial asymmetry in parents of autistic individuals compared to age-matched adults in the comparison group (p = 0.046, d = 0.21 [0.002, 0.42]). Considering previous findings and the current results, we conclude that facial asymmetry expressed in the facial morphology of autistic children may be related to heritability factors. LAY ABSTRACT: In a previous study, we showed that autistic children presented with greater facial asymmetry than non-autistic children. In the current study, we examined the amount of facial asymmetry shown on three-dimensional facial images of 192 parents of autistic children compared to a control group consisting of 163 similarly aged adults with no known history of autism. Although parents did show greater levels of facial asymmetry than those in the control group, this effect is statistically small. We concluded that the facial asymmetry previously found in autistic children may be related to genetic factors.

The FMR1 gene in its premutation (PM) state has been linked to a range of clinical and subclinical phenotypes among FMR1 PM carriers, including some subclinical traits associated with autism spectrum disorder (ASD). This study attempted to further characterize the phenotypic profile associated with the FMR1 PM by studying a battery of assessments examining clinical-behavioral traits, social-cognitive, and executive abilities in women carrying the FMR1 PM, and associations with FMR1-related variability. Participants included 152 female FMR1 PM carriers and 75 female controls who were similar in age and IQ, and screened for neuromotor impairments or signs of fragile X-associated tremor/ataxia syndrome. The phenotypic battery included assessments of ASD-related personality and language (i.e., pragmatic) traits, symptoms of anxiety and depression, four different social-cognitive tasks that tapped the ability to read internal states and emotions based on different cues (e.g., facial expressions, biological motion, and complex social scenes), and a measure of executive function. Results revealed a complex phenotypic profile among the PM carrier group, where subtle differences were observed in pragmatic language, executive function, and social-cognitive tasks that involved evaluating basic emotions and trustworthiness. The PM carrier group also showed elevated rates of ASD-related personality traits. In contrast, PM carriers performed similarly to controls on social-cognitive tasks that involved reliance on faces and biological motion. The PM group did not differ from controls on self-reported depression or anxiety symptoms. Using latent profile analysis, we observed three distinct subgroups of PM carriers who varied considerably in their performance across tasks. Among PM carriers, CGG repeat length was a significant predictor of pragmatic language violations. Results suggest a nuanced phenotypic profile characterized by subtle differences in select clinical-behavioral, social-cognitive, and executive abilities associated with the FMR1 PM in women.