To Typically Developing Individuals Research Articles

Spontaneous instrumental approach-avoidance learning in social contexts in autism

BackgroundIndividuals with Autism Spectrum Condition (ASC) are characterized by atypicalities in social interactions, compared to Typically Developing individuals (TD). The social motivation theory posits that these difficulties stem from diminished anticipation, reception, and/or learning from social rewards. Although learning from socioemotional outcomes is core to the theory, studies to date have been sparse and inconsistent. This possibly arises from a combination of theoretical, methodological and sample-related issues. Here, we assessed participants’ ability to develop a spontaneous preference for actions that lead to desirable socioemotional outcomes (approaching/avoiding of happy/angry individuals, respectively), in an ecologically valid social scenario. We expected that learning abilities would be impaired in ASC individuals, particularly in response to affiliative social feedback.MethodWe ran an online social reinforcement learning task, on two large online cohorts with (n = 274) and without (n = 290) ASC, matched for gender, age and education. Participants had to indicate where they would sit in a waiting room. Each seat was associated with different probabilities of approaching/avoiding emotional individuals. Importantly, the task was implicit, as participants were not instructed to learn, and emotional expressions were never mentioned. We applied both categorical analyses contrasting the ASC and TD groups and dimensional factor analysis on affective questionnaires.ResultsContrary to our hypothesis, participants showed spontaneous learning from socioemotional outcomes, regardless of their diagnostic group. Yet, when accounting for dimensional variations in autistic traits, as well as depression and anxiety, two main findings emerged among females who failed to develop explicit learning strategies: (1) autism severity in ASC correlated with reduced learning to approach happy individuals; (2) anxiety-depression severity across both ASC and TD participants correlated with reduced learning to approach/avoid happy/angry individuals, respectively.ConclusionsImplicit spontaneous learning from socioemotional outcomes is not generally impaired in autism but may be specifically associated with autism severity in females with ASC, when they do not have an explicit strategy for adapting to their social environment. Clinical diagnosis and intervention ought to take into account individual differences in their full complexity, including the presence of co-morbid anxiety and depression, when dealing with social atypicalities in autism.

Cortico-basal ganglia white matter microstructure is linked to restricted repetitive behavior in autism spectrum disorder

BackgroundRestricted repetitive behavior (RRB) is one of two behavioral domains required for the diagnosis of autism spectrum disorder (ASD). Neuroimaging is widely used to study brain alterations associated with ASD and the domain of social and communication deficits, but there has been less work regarding brain alterations linked to RRB.MethodsWe utilized neuroimaging data from the National Institute of Mental Health Data Archive to assess basal ganglia and cerebellum structure in a cohort of children and adolescents with ASD compared to typically developing (TD) controls. We evaluated regional gray matter volumes from T1-weighted anatomical scans and assessed diffusion-weighted scans to quantify white matter microstructure with free-water imaging. We also investigated the interaction of biological sex and ASD diagnosis on these measures, and their correlation with clinical scales of RRB.ResultsIndividuals with ASD had significantly lower free-water corrected fractional anisotropy (FAT) and higher free-water (FW) in cortico-basal ganglia white matter tracts. These microstructural differences did not interact with biological sex. Moreover, both FAT and FW in basal ganglia white matter tracts significantly correlated with measures of RRB. In contrast, we found no significant difference in basal ganglia or cerebellar gray matter volumes.LimitationsThe basal ganglia and cerebellar regions in this study were selected due to their hypothesized relevance to RRB. Differences between ASD and TD individuals that may occur outside the basal ganglia and cerebellum, and their potential relationship to RRB, were not evaluated.ConclusionsThese new findings demonstrate that cortico-basal ganglia white matter microstructure is altered in ASD and linked to RRB. FW in cortico-basal ganglia and intra-basal ganglia white matter was more sensitive to group differences in ASD, whereas cortico-basal ganglia FAT was more closely linked to RRB. In contrast, basal ganglia and cerebellar volumes did not differ in ASD. There was no interaction between ASD diagnosis and sex-related differences in brain structure. Future diffusion imaging investigations in ASD may benefit from free-water estimation and correction in order to better understand how white matter is affected in ASD, and how such measures are linked to RRB.

Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome

BackgroundThe 1.6 Mb 3q29 deletion is associated with neurodevelopmental and neuropsychiatric phenotypes, including a 19-fold increased risk for autism spectrum disorder (ASD). Previous work by our team identified elevated social disability in this population via parent-report questionnaires. However, clinical features of ASD in this population have not been explored in detail.MethodsThirty-one individuals with 3q29 deletion syndrome (3q29del, 61.3% male) were evaluated using two gold-standard clinical ASD evaluations: the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), and the Autism Diagnostic Interview, Revised (ADI-R). Four matched comparators for each subject were ascertained from the National Database for Autism Research. Item-level scores on the ADOS-2 and ADI-R were compared between subjects with 3q29del and matched comparators.ResultsSubjects with 3q29del and no ASD (3q29del-ASD) had greater evidence of social disability compared to typically developing (TD) comparison subjects across the ADOS-2. Subjects with 3q29del and ASD (3q29del + ASD) were largely indistinguishable from non-syndromic ASD (nsASD) subjects on the ADOS-2. 3q29del + ASD performed significantly better on social communication on the ADI-R than nsASD (3q29 + ASD mean = 11.36; nsASD mean = 15.70; p = 0.01), and this was driven by reduced deficits in nonverbal communication (3q29 + ASD mean = 1.73; nsASD mean = 3.63; p = 0.03). 3q29del + ASD reported significantly later age at the first two-word phrase compared to nsASD (3q29del + ASD mean = 43.89 months; nsASD mean = 37.86 months; p = 0.01). However, speech delay was not related to improved nonverbal communication in 3q29del + ASD.LimitationsThere were not enough TD comparators with ADI-R data in NDAR to include in the present analysis. Additionally, our relatively small sample size made it difficult to assess race and ethnicity effects.Conclusions3q29del is associated with significant social disability, irrespective of ASD diagnosis. 3q29del + ASD have similar levels of social disability to nsASD, while 3q29del-ASD have significantly increased social disability compared to TD individuals. However, social communication is reasonably well preserved in 3q29del + ASD relative to nsASD. It is critical that verbal ability and social disability be examined separately in this population to ensure equal access to ASD and social skills evaluations and services.

A Critical Review of Spatial Abilities in Down and Williams Syndromes: Not All Space Is Created Equal.

Down syndrome (DS, Trisomy 21) and Williams syndrome (WS) are two neurodevelopmental disorders of genetic origin that are accompanied by mild to moderate intellectual disability but exhibit distinct cognitive profiles. In this review we discuss our recent work characterizing the real-world spatial learning and memory abilities of adult individuals with DS and WS. We used several different paradigms in which participants locomote freely and have access to coherent input from all sensory modalities to investigate their fundamental egocentric (body-centered or viewpoint-dependent) and allocentric (world-centered or viewpoint-independent) spatial abilities. We found unequivocal evidence that most individuals with DS exhibit low-resolution egocentric and allocentric spatial learning and memory abilities similar to typically developing (TD) children in the same mental age range. In contrast, most individuals with DS exhibit impaired high-resolution allocentric spatial learning and facilitated response learning as compared to TD children. In comparison, whereas most individuals with WS also exhibit facilitated response learning, their low-resolution allocentric spatial learning and memory abilities are severely impaired as compared to both TD children and individuals with DS. Together with work from other laboratories using real-world or virtual reality paradigms, these findings indicate that in order to navigate in their environment most individuals with DS may use either egocentric route learning that does not integrate individual landmarks, or a low-resolution allocentric spatial representation that encodes the relationships between different locations (i.e., cognitive mapping). In contrast, since most individuals with WS are unable to build or use a low-resolution allocentric or configural representation of the environment they may use visually and verbally encoded landmarks as beacons to learn routes. Finally, we discuss the main neural structures implicated in these different spatial processes and explain how the relative preservation or impairment of specific brain functions may engender the unique cognitive profiles observed in individuals with these neurodevelopmental disorders.

The N170 event-related potential reflects delayed neural response to faces when visual attention is directed to the eyes in youths with ASD.

Atypical neural response to faces is thought to contribute to social deficits in autism spectrum disorder (ASD). Compared to typically developing (TD) controls, individuals with ASD exhibit delayed brain responses to upright faces at a face-sensitive event-related potential (ERP), the N170. Given observed differences in patterns of visual attention to faces, it is not known whether slowed neural processing may simply reflect atypical looking to faces. The present study manipulated visual attention to facial features to examine whether directed attention to the eyes normalizes N170 latency in ASD. ERPs were recorded in 30 children and adolescents with ASD as well as 26 TD children and adolescents. Results replicated prior findings of shorter N170 latency to the eye region of the face in TD individuals. In contrast, those with ASD did not demonstrate modulation of N170 latency by point of regard to the face. Group differences in latency were most pronounced when attention was directed to the eyes. Results suggest that well-replicated findings of N170 delays in ASD do not simply reflect atypical patterns of visual engagement with experimental stimuli. These findings add to a body of evidence indicating that N170 delays are a promising marker of atypical neural response to social information in ASD. LAY SUMMARY: This study looks at how children's and adolescents' brains respond when looking at different parts of a face. Typically developing children and adolescents processed eyes faster than other parts of the face, whereas this pattern was not seen in ASD. Children and adolescents with ASD processed eyes more slowly than typically developing children. These findings suggest that observed inefficiencies in face processing in ASD are not simply reflective of failure to attend to the eyes.

Duration judgments in children and adolescents with and without mild intellectual disability

BackgroundWhile the ability to measure time correctly is crucial for adaptation to the external physical and social environment, to date, research on timing ability and its development in individuals with intellectual disability (ID) is unfortunately remarkably scarce. AimsIn the present study, we investigated the ability of individuals with mild ID to estimate durations and the development of this ability from 11 to 19 years, in comparison to typically developing (TD) individuals. Methods and proceduresParticipants with mild ID and TD participants matched on chronological age completed two temporal tasks: (1) a temporal bisection of auditory stimuli, in which they had to decide whether arbitrary stimulus duration was more similar to the short (200 ms) or the long (800 ms) standard previously learned, and (2) a temporal categorization of familiar actions, in which short, medium or long target durations had to be paired with one of three comparison action durations. Outcomes and resultsTemporal performance was systematically impaired in participants with mild ID. Moreover, the temporal impairment increased with age in the bisection task but not in the categorization task. Conclusions and implicationsThese findings suggest that the ability to estimate durations develops at a slower pace in individuals with mild ID compared to TD individuals.

Emotional face recognition in autism and in cerebral visual impairments: In search for specificity.

Autism spectrum disorder (ASD) is characterized by difficulties in the social domain, but also by hyper- and hypo-reactivity. Atypical visual behaviours and processing have often been observed. Nevertheless, several similar signs are also identified in other clinical conditions including cerebral visual impairments (CVI). In the present study, we investigated emotional face categorization in groups of children with ASD and CVI by comparing each group to typically developing individuals (TD) in two tasks. Stimuli were either non-filtered or filtered by low- and high-spatial frequencies (LSF and HSF). All participants completed the autism spectrum quotient score (AQ) and a complete neurovisual evaluation. The results show that while both clinical groups presented difficulties in the emotional face recognition tasks and atypical processing of filtered stimuli, they did not differ from one another. Additionally, autistic traits were observed in the CVI group and symmetrically, some visual disturbances were present in the ASD group as measured via the AQ score and a neurovisual evaluation, respectively. The present study suggests the relevance of comparing ASD to CVI by showing that emotional face categorization difficulties should not be solely considered as autism-specific but merit investigation for potential dysfunction of the visual processing neural network. These results are of interest in both clinical and research perspectives, indicating that systematic visual examination is warranted for individuals with ASD.

Differences in Romantic Relationship Experiences for Individuals with an Autism Spectrum Disorder

Individuals with an autism spectrum disorder (ASD) experience varying difficulties, for many this includes romantic relationships. Existing research in this area is mixed and suggests that compared to typically developing (TD) individuals, those with ASD have a similar level of romantic interest, but less relationship success and lower satisfaction with romantic connections. We aimed to explore one of the many pathways to positive relationship experience, and how these may differ for individuals with an ASD. We recruited 459 individuals (232 diagnosed with ASD) internationally, with 64% being female, a result of the internet-based sampling method. Each participant completed an online battery including the Sexual Behaviour Scale—third edition. Compared to TD individuals, those with ASD reported a similar level of interest in relationships, but reported fewer opportunities to meet potential new partners, had shorter relationship duration, and greater concern about their future relationships. Peer social engagement was found to partially mediate the relationship between diagnostic status and relationship difficulties. This was true for both males and females. Additionally, those with ASD reported learning less about sexuality from their peers and experiencing greater anxiety when meeting a potential partner. The current study identifies some factors and pathways that lead to positive relationship functioning among those with ASD. This will be useful for clinician’s who support individuals on the autism spectrum, as it will assist those individuals seeking to establish or maintain positive romantic relationships.

Electrophysiology of Inhibitory Control in the Context of Emotion Processing in Children With Autism Spectrum Disorder.

Autism Spectrum Disorder (ASD) is an increasingly common developmental disorder that affects 1 in 59 children. Despite this high prevalence of ASD, knowledge regarding the biological basis of its associated cognitive difficulties remains scant. In this study, we aimed to identify altered neurophysiological responses underlying inhibitory control and emotion processing difficulties in ASD, together with their associations with age and various domains of cognitive and social function. This was accomplished by assessing electroencephalographic recordings during an emotional go/nogo task alongside parent rating scales of behavior. Event related potential (ERP) N200 component amplitudes were reduced in children with ASD compared to typically developing (TD) children. No group differences were found, however, for task performance, P300 amplitude or latency, or N170 amplitude or latency, suggesting that individuals with ASD may only present conflict monitoring abnormalities, as reflected by the reduced N200 component, compared to TD individuals. Consistent with previous findings, increased age correlated with improved task performance scores and reduced N200 amplitude in the TD group, indicating that as these children develop, their neural systems become more efficient. These associations were not identified in the ASD group. Results also showed significant associations between increased N200 amplitudes and improved executive control abilities and decreased autism traits in TD children only. The newly discovered findings of decreased brain activation in children with ASD, alongside differences in correlations with age compared to TD children, provide a potential neurophysiological indicator of atypical development of inhibitory control mechanisms in these individuals.

Self-Reported Autism Spectrum Disorder Symptoms Among Adults Referred to a Gender Identity Clinic.

The purpose of this study was to (1) investigate autism spectrum disorder (ASD) symptoms in a sample of adults referred for gender dysphoria (GD) compared to typically developing (TD) populations, (2) see whether males assigned at birth with GD (MaBGDs) and females assigned at birth with GD (FaBGDs) differ in ASD symptom levels, (3) study the role of sexual orientation, and (4) investigate ASD symptoms' correlation with GD symptoms. The Autism-Spectrum Quotient (AQ) was used to measure ASD symptoms, and the Utrecht Gender Dysphoria Scale (UGDS) was used to measure the intensity of GD. Mean AQ scores of adults referred for GD (n = 326; 191 MaBGD and 135 FaBGD) were compared to three TD populations taken from the literature (n = 1316; 667 male and 644 female, 5 birth-assigned sex unknown). The mean AQ score in individuals referred for GD was similar to the TD samples. FaBGDs showed higher mean AQ scores than MaBGDs, and they had mean scores similar to TD individuals of the same experienced gender (TD males). After selecting individuals with an UGDS score indicative of GD, a positive association between ASD and GD symptoms was found. The co-occurrence of GD and ASD in adults may not be as prevalent as previously suggested. Attenuation of sex differences in ASD might explain FaBGDs' and MaBGDs' ASD symptoms' similarity to those of TD individuals of the same experienced gender. Intensity of ASD symptoms might be correlated with intensity of GD symptoms, warranting further studies to elaborate on their potential co-occurrence.

A typical social attention behaviors and its underlying neural mechanism in individuals with autism spectrum disorder

The ability to coordinate attention to events or objects between interactive social partners, referred to as social attention, is of great significance for adaptive social behaviors and nonverbal communications in our daily life, helping us to infer other person’s inner state (e.g., intentions, goals) and learn about where important events (e.g., food, danger) occur in the environment. In recent years, many studies have demonstrated that social cues (e.g., eye gaze, head orientation and walking direction of biological motion) can trigger reflexive attentional orienting effects using adapted central cueing paradigm originally designed by Posner. However, not all of us are equally adept at directing attention to where others are focusing on, and this ability is strongly impaired in individuals with autism spectrum disorder (ASD), a highly genetic neurodevelopmental disorder marked by striking social deficits and repetitive behaviors. Here we systematically reviewed recent work on abnormal social attention behaviors and its underlying neural mechanisms in ASD. We first expatiated a typical social attention behaviors indexed by covert and overt attention in ASD. It has been documented that ASD individuals tend to show reduced reflexive orienting effect manifesting itself in both covert attention and overt eye movement compared to typically developing individuals (TD). Yet some controversies concerning the malfunction of social attention in ASD remain to be resolved, based on some evidence demonstrating comparable orienting effect between ASD and TD group. Then we summarized the development course of social attention in ASD. Crucially, atypical orienting to eye gaze is more likely to be observed in younger children but not older children or adults with ASD. It is reasonable to postulate that ASD individuals may acquire this ability through overlearning the association between social cues and targets in everyday life as they grow older. Furthermore, we discussed the neural basis of abnormal social attention behaviors in ASD. Using a combination of psychophysical paradigms and neuroimaging techniques, researchers have reported atypical neural activities in superior temporal gyrus and prefrontal cortex under the supraliminal condition as well as abnormal activation in amygdala under the subliminal condition in the brain of ASD. Moreover, the ASD group showed much less difference in activation of frontoparietal attention networks between social and nonsocial attention task than the TD group, implying disruptive social attention in ASD. Finally, several perspectives on further investigations were put forward given the controversies and insufficient evidence concerning the malfunction of social attention in ASD. Future studies should employ multiple types of social cues (e.g., eye gaze and walking direction of biological motion) in conjunction with more ecological paradigms to investigate conscious and non-conscious social attention behaviors from a developmental approach. More importantly, more neuroimaging studies are needed to explore the functional connections among several key cortical regions and subcortical regions underlying atypical social attention behaviors in ASD. Such efforts will help to facilitate the early diagnosis and intervention of ASD.

Temporal Processing Instability with Millisecond Accuracy is a Cardinal Feature of Sensorimotor Impairments in Autism Spectrum Disorder: Analysis Using the Synchronized Finger-Tapping Task.

To identify a specific sensorimotor impairment feature of autism spectrum disorder (ASD), we focused on temporal processing with millisecond accuracy. A synchronized finger-tapping task was used to characterize temporal processing in individuals with ASD as compared to typically developing (TD) individuals. We found that individuals with ASD showed more variability in temporal processing parameters than TD individuals. In addition, temporal processing instability was related to altered motor performance. Further, receiver operating characteristic(ROC) curve analyses indicated that altered temporal processing can be useful for distinguishing between individuals with and without ASD. These results suggest that instability of temporal processing with millisecond accuracy is a fundamental feature of sensorimotor impairments in ASD.

Associations between fetal testosterone and pro–social tendencies, anxiety and autistic symptoms in Williams syndrome: a preliminary study

Objective: Fetal testosterone (fT) has organizational effects on the developing human nervous system and can be reliably estimated by the ratio between the length of the second and fourth digits — 2D:4D. Previous studies reported altered patterns of fT in some developmental disabilities (e.g. ASD) relative to typically developing individuals (TD). Williams syndrome (WS) is a rare genetic disorder characterized by exacerbated empathy and social approach and heightened anxiety. Recent reports also highlight the co-occurrence of significant levels of autistic symptoms. Despite constituting an interesting model to study androgenic contributions to social behavior, no studies have sought to explore fT in WS. The main aims of this preliminary study were two-fold: (a) to compare 2D:4D in WS and TD; (b) to analyze the pattern of associations between 2D:4D and hypersociability, affective and cognitive empathy, anxiety and autistic symptoms in WS.Methods: 2D:4D were measured from digital scans of the ventral surface of the right hand. Hypersociability, empathy, anxiety and autistic symptoms were obtained from parental reports.Results: There were no significant differences in 2D:4D between WS than TD. In WS lower fT (higher 2D:4D) was significantly associated with hypersociability and affective empathy, as well as marginally associated with anxiety/depression scores. In contrast, cognitive empathy was marginally and negatively associated with 2D:4D, while levels of autistic symptoms were unrelated with this measure.Conclusion: Our results suggest that fT may be implicated in the emergence of several cardinal features of WS, namely hypersociability, affective empathy and anxiety, but not in ASD symptoms.

Executive functioning and local-global visual processing: candidate endophenotypes for autism spectrum disorder?

Heterogeneity within autism spectrum disorder (ASD) hampers insight in the etiology and stimulates the search for endophenotypes. Endophenotypes should meet several criteria, the most important being the association with ASD and the higher occurrence rate in unaffected ASD relatives than in the general population. We evaluated these criteria for executive functioning (EF) and local-global (L-G) visual processing. By administering an extensive cognitive battery which increases the validity of the measures, we examined which of the cognitive anomalies shown by ASD probands also occur in their unaffected relatives (n=113) compared to typically developing (TD) controls (n=100). Microarrays were performed, so we could exclude relatives from probands with a de novo mutation in a known ASD susceptibility copy number variant, thus increasing the probability that genetic risk variants are shared by the ASD relatives. An overview of studies investigating EF and L-G processing in ASD relatives was also provided. For EF, ASD relatives - like ASD probands - showed impairments in response inhibition, cognitive flexibility and generativity (specifically, ideational fluency), and EF impairments in daily life. For L-G visual processing, the ASD relatives showed no anomalies on the tasks, but they reported more attention to detail in daily life. Group differences were similar for siblings and for parents of ASD probands, and yielded larger effect sizes in a multiplex subsample. The group effect sizes for the comparison between ASD probands and TD individuals were generally larger than those of the ASD relatives compared to TD individuals. Impaired cognitive flexibility, ideational fluency and response inhibition are strong candidate endophenotypes for ASD. They could help to delineate etiologically more homogeneous subgroups, which is clinically important to allow assigning ASD probands to different, more targeted, interventions.

Ultra-Rapid Categorization of Meaningful Real-Life Scenes in Adults With and Without ASD.

In comparison to typically developing (TD) individuals, people with autism spectrum disorder (ASD) appear to be worse in the fast extraction of the global meaning of a situation or picture. Ultra-rapid categorization [paradigm developed by Thorpe et al. (Nature 381:520-522, 1996)] involves such global information processing. We therefore tested a group of adults with and without ASD, without intellectual disability, on a set of ultra-rapid categorization tasks. Individuals with ASD performed equally well as TD individuals except when the task required the categorization of social interactions. These results argue against a general deficit in ultra-rapid gist perception in people with ASD, while suggesting a more specific problem with the fast processing of information about social relations.

Self-assessed sexuality in young adults with High-Functioning Autism

The literature has revealed that autistic persons of all ages show an interest in sexuality and relationships, but the poor social and communication skills found among those with autism hinders the experience of this. Unfortunately, most research to date in this domain has relied exclusively upon parental or caregiver reports. Thus there remains a need for research to be undertaken in this area based on direct reports from autistic individuals. We hypothesised that compared to Typically Developing (TD) persons, persons with High-Functioning Autism (HFA) would reveal lesser levels of sexual experience, lower levels of sexual and social behaviour, and less understanding of privacy on various subscales of the Sexualised Behaviour Scale. The results of this present study supported the hypothesis on all scales except Privacy and Sexualised Behaviour. Overall, compared to TD individuals, HFA individuals engaged in fewer social behaviours, had less sex education and fewer sexual experiences, had more pronounced concerns for the future, and showed similar levels of privacy knowledge and public sexualised behaviour. These findings suggest a need for specialised sex education programs for autistic populations; further, since social behaviour was significantly lower for autistic individuals and future concerns were higher, this suggests that sex education programs need to incorporate education about social rules to enhance social communication and understanding.