Mind reading dysfunctions in patients with obstructive sleep apnoea: A neuropsychological approach.

Obstructive sleep apnoea syndrome (OSAS) is a prevalent sleep-related breathing disorder that has been extensively studied for its effects on cognitive functions. However, little attention has been given to investigating Mind Reading (MR) skills in patients with OSAS. In this study, we employed a neuropsychological approach to thoroughly assess various facets of MR skills in patients with OSAS. Forty-two patients with untreated moderate or severe OSAS (AHI ≥15; 30 men, 12 women) and 16 healthy controls (7 men and 9 women), matched by age, were enrolled. To assess MR skills, we used: (i) The Story-based Empathy Task (SET), which includes three experimental conditions: identifying intentions (SET-IA), emotional states (SET-EA), and a control condition for inferring causality reactions (SET-CI); (ii) the Ekman 60 Faces Test (Ek60), which measures emotion recognition from facial expressions. Our findings revealed that patients with OSAS exhibit deficits in emotion-related MR skills, while their ability to make inferences about the cognitive states of social partners remains largely preserved. This finding corroborates previous evidence indicating that social cognition, particularly MR skills, may be one of the cognitive domains affected by OSAS. It emphasizes the significance of investigating social cognition and the relationship between MR skills and social functioning as a new and intriguing area of research in patients with OSAS.

Impact of sleep disorders on behavioral issues in preschoolers with autism spectrum disorder.

Background: Sleep disorders are one of the most common problems in children with Autism Spectrum Disorder (ASD). However, they often tend to be underdiagnosed and incorrectly treated in clinical practice. This study aims to identify sleep disorders in preschool children with ASD and to explore their relationship with the core symptoms of autism, the child's developmental and cognitive level as well as the psychiatric comorbidities. Methods: We recruited 163 preschool children with a diagnosis of ASD. The Children's Sleep Habits Questionnaire (CSHQ) assessed sleep conditions. Multiple standardized tests were used to evaluate intellectual abilities, the presence of repetitive behaviors (through the Repetitive Behavior Scale-Revised), as well as the emotional-behavioral problems and the psychiatric comorbidities (through the Child Behavior Checklist -CBCL 11/2-5). Results: The results showed that poor disorders had consistently higher scores in all areas assessed by the CSHQ and on the CBCL across all domains. The correlational analysis showed that severe sleep disorders were associated with higher scores in internalizing, externalizing, and total problems at the CBCL syndromic scales, and in all DSM-oriented CBCL subscales. Moreover, we found that the association between sleep disorders and restricted and repetitive behaviors (RRBs) is explained by the anxiety-related symptoms. Conclusion: Based on these findings, the study recommends that screening for sleep problems followed by early intervention should constitute a routine part of clinical practice for children with ASD.

High-Risk Siblings without Autism: Insights from a Clinical and Eye-Tracking Study.

Joint attention (JA)-the human ability to coordinate our attention with that of other people-is impaired in the early stage of Autism Spectrum Disorder (ASD). However, little is known about the JA skills in the younger siblings of children with ASD who do not develop ASD at 36 months of age [high-risk (HR)-noASD]. In order to advance our understanding of this topic, a prospective multicenter observational study was conducted with three groups of toddlers (age range: 18-33 months): 17 with ASD, 19 with HR-noASD and 16 with typical development (TD). All subjects underwent a comprehensive clinical assessment and an eye-tracking experiment with pre-recorded stimuli in which the visual patterns during two tasks eliciting initiating joint attention (IJA) were measured. Specifically, fixations, transitions and alternating gaze were analyzed. Clinical evaluation revealed that HR-noASD subjects had lower non-verbal cognitive skills than TD children, while similar levels of restricted and repetitive behaviors and better social communication skills were detected in comparison with ASD children. Eye-tracking paradigms indicated that HR-noASD toddlers had visual patterns resembling TD in terms of target-object-to-face gaze alternations, while their looking behaviors were similar to ASD toddlers regarding not-target-object-to-face gaze alternations. This study indicated that high-risk, unaffected siblings displayed a shared profile of IJA-eye-tracking measures with both ASD patients and TD controls, providing new insights into the characterization of social attention in this group of toddlers.

Contextual Information Modulates Pupil Size in Autistic Children.

Recent Bayesian models suggest that perception is more "data-driven" and less dependent on contextual information in autistic individuals than others. However, experimental tests of this hypothesis have given mixed results, possibly due to the lack of objectivity of the self-report methods typically employed. Here we introduce an objective no-report paradigm based on pupillometry to assess the processing of contextual information in autistic children, together with a comparison clinical group. After validating in neurotypical adults a child-friendly pupillometric paradigm, in which we embedded test images within an animation movie that participants watched passively, we compared pupillary response to images of the sun and meaningless control images in children with autism vs. age- and IQ-matched children presenting developmental disorders unrelated to the autistic spectrum. Both clinical groups showed stronger pupillary constriction for the sun images compared with control images, like the neurotypical adults. However, there was no detectable difference between autistic children and the comparison group, despite a significant difference in pupillary light responses, which were enhanced in the autistic group. Our report introduces an objective technique for studying perception in clinical samples and children. The lack of statistically significant group differences in our tests suggests that autistic children and the comparison group do not show large differences in perception of these stimuli. This opens the way to further studies testing contextual processing at other levels of perception.

Reduced 2D form coherence and 3D structure from motion sensitivity in developmental dyscalculia.

Developmental dyscalculia (DD) is a specific learning disability affecting the development of numerical and arithmetical skills. The origin of DD is typically attributed to the suboptimal functioning of key regions within the dorsal visual stream (parietal cortex) which support numerical cognition. While DD individuals are often impaired in visual numerosity perception, the extent to which they also show a wider range of visual dysfunctions is poorly documented. In the current study we measured sensitivity to global motion (translational and flow), 2D static form (Glass patterns) and 3D structure from motion in adults with DD and control subjects. While sensitivity to global motion was comparable across groups, thresholds for static form and structure from motion were higher in the DD compared to the control group, irrespective of associated reading impairments. Glass pattern sensitivity predicted numerical abilities, and this relation could not be explained by recently reported differences in visual crowding. Since global form sensitivity has often been considered an index of ventral stream function, our findings could indicate a cortical dysfunction extending beyond the dorsal visual stream. Alternatively, they would fit with a role of parietal cortex in form perception under challenging conditions requiring multiple element integration.

Differential Diagnosis in Children with Autistic Symptoms and Subthreshold ADOS Total Score: An Observational Study.

BACKGROUND: Children with autism spectrum disorder (ASD) share some symptoms with children with other neurodevelopmental disorders (ie, intellectual disability or communication disorders or language disorders). These similarities can make difficult to obtain an accurate diagnosis, which is essential to give targeted treatments to the patients. We aim to verify in our study if children with autistic traits who undergo to Autism Diagnostic Observation Schedule had specific clinical diagnosis. PATIENTS AND METHODS: We selected 73 children tested with ADOS-G or ADOS-2, for the presence of autistic symptoms. The whole sample did not reach the cut-off of ADOS and did not receive the ASD diagnosis, according to DSM-5. RESULTS: Results of this study showed that in order of frequency and early diagnosis, communication disorders (CD), mild intellectual disability (mID) and the attention deficit hyperactivity disorders (ADHD) represent the most common final clinical diagnosis in children with autistic traits. CONCLUSION: Our results showed as the CD was the common diagnosis of these children and that often associated with younger age. Moreover, analyses of ADOS domains and the difference of individual items between groups did not show the capacity to differentiate between different neurodevelopmental disorders in terms of differential diagnosis, and this confirms the need for integrating multiple sources of information during the diagnostic process.

Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report.

Autism is a neurodevelopmental disorder presenting in the first 3 years of life. Deficits occur in the core areas of social communication and interaction and restricted, repetitive patterns of behavior, interests or activities. The causes of autism are unknown, but clinical genetic studies show strong evidence in favor of the involvement of genetic factors in etiology. Molecular genetic studies report some associations with candidate genes, and candidate regions have emerged from several genome-wide linkage studies. Here, we report a clinical case of autism in a 6-year-old boy with double duplication on 10q11.22q11.23 with ASD (Autism Spectrum Disorder), intellectual disability, developmental delay, hypotonia, gross-motor skills deficit, overgrowth and mild dysmorphic features. In the literature, only five cases of ASD with 10q11.21q11.23 duplication are reported. This is the first extensive clinical description of an ASD subject with 10q11.22q11.23 duplication. Our findings suggest that 10q11.21q11.23 microduplication could represent a copy number variant that predisposes to autism.

Objective pupillometry shows that perceptual styles covary with autistic-like personality traits.

We measured the modulation of pupil size (in constant lighting) elicited by observing transparent surfaces of black and white moving dots, perceived as a cylinder rotating about its vertical axis. The direction of rotation was swapped periodically by flipping stereo-depth of the two surfaces. Pupil size modulated in synchrony with the changes in front-surface color (dilating when black). The magnitude of pupillary modulation was larger for human participants with higher Autism-Spectrum Quotient (AQ), consistent with a local perceptual style, with attention focused on the front surface. The modulation with surface color, and its correlation with AQ, was equally strong when participants passively viewed the stimulus. No other indicator, including involuntary pursuit eye movements, covaried with AQ. These results reinforce our previous report with a similar bistable stimulus (Turi, Burr, & Binda, 2018), and go on to show that bistable illusory motion is not necessary for the effect, or its dependence on AQ.

Pupillary Responses Obey Emmert's Law and Co-vary with Autistic Traits.

We measured the pupil response to a light stimulus subject to a size illusion and found that stimuli perceived as larger evoke a stronger pupillary response. The size illusion depends on combining retinal signals with contextual 3D information; contextual processing is thought to vary across individuals, being weaker in individuals with stronger autistic traits. Consistent with this theory, autistic traits correlated negatively with the magnitude of pupil modulations in our sample of neurotypical adults; however, psychophysical measurements of the illusion did not correlate with autistic traits, or with the pupil modulations. This shows that pupillometry provides an accurate objective index of complex perceptual processes, particularly useful for quantifying interindividual differences, and potentially more informative than standard psychophysical measures.

Fast saccadic eye-movements in humans suggest that numerosity perception is automatic and direct.

Fast saccades are rapid automatic oculomotor responses to salient and ecologically important visual stimuli such as animals and faces. Discriminating the number of friends, foe, or prey may also have an evolutionary advantage. In this study, participants were asked to saccade rapidly towards the more numerous of two arrays. Participants could discriminate numerosities with high accuracy and great speed, as fast as 190 ms. Intermediate numerosities were more likely to elicit fast saccades than very low or very high numerosities. Reaction-times for vocal responses (collected in a separate experiment) were slower, did not depend on numerical range, and correlated only with the slow not the fast saccades, pointing to different systems. The short saccadic reaction-times we observe are surprising given that discrimination using numerosity estimation is thought to require a relatively complex neural circuit, with several relays of information through the parietal and prefrontal cortex. Our results suggest that fast numerosity-driven saccades may be generated on a single feed-forward pass of information recruiting a primitive system that cuts through the cortical hierarchy and rapidly transforms the numerosity information into a saccade command.

Excessive visual crowding effects in developmental dyscalculia.

Visual crowding refers to the inability to identify objects when surrounded by other similar items. Crowding-like mechanisms are thought to play a key role in numerical perception by determining the sensory mechanisms through which ensembles are perceived. Enhanced visual crowding might hence prevent the normal development of a system involved in segregating and perceiving discrete numbers of items and ultimately the acquisition of more abstract numerical skills. Here, we investigated whether excessive crowding occurs in developmental dyscalculia (DD), a neurodevelopmental disorder characterized by difficulty in learning the most basic numerical and arithmetical concepts, and whether it is found independently of associated major reading and attentional difficulties. We measured spatial crowding in two groups of adult individuals with DD and control subjects. In separate experiments, participants were asked to discriminate the orientation of a Gabor patch either in isolation or under spatial crowding. Orientation discrimination thresholds were comparable across groups when stimuli were shown in isolation, yet they were much higher for the DD group with respect to the control group when the target was crowded by closely neighbouring flanking gratings. The difficulty in discriminating orientation (as reflected by the combination of accuracy and reaction times) in the DD compared to the control group persisted over several larger target flanker distances. Finally, we found that the degree of such spatial crowding correlated with impairments in mathematical abilities even when controlling for visual attention and reading skills. These results suggest that excessive crowding effects might be a characteristic of DD, independent of other associated neurodevelopmental disorders.

'Not only faces': specialized visual representation of human hands revealed by adaptation.

Classical neurophysiological studies demonstrated that the monkey brain is equipped with neurons selectively representing the visual shape of the primate hand. Neuroimaging in humans provided data suggesting that a similar representation can be found in humans. Here, we investigated the selectivity of hand representation in humans by means of the visual adaptation technique. Results showed that participants' judgement of human-likeness of a visual probe representing a human hand was specifically reduced by a visual adaptation procedure when using a human hand adaptor but not when using an anthropoid robotic hand or a non-primate animal paw adaptor. Instead, human-likeness of the anthropoid robotic hand was affected by both human and robotic adaptors. No effect was found when using a non-primate animal paw as adaptor or probe. These results support the existence of specific neural mechanisms encoding human hand in the human's visual system.

Sex Differences in Autism Spectrum Disorder: An Investigation on Core Symptoms and Psychiatric Comorbidity in Preschoolers.

Findings regarding sex differences in autism spectrum disorder (ASD), as far as core symptoms and psychiatric comorbidities (PC) are concerned, are inconsistent, inconclusive, or conflicting among studies. The lower prevalence of ASD in females than in males and the age and intelligence quotient (IQ) heterogeneity among samples made it difficult to investigate these differences. This case-control study tries to deepen the impact of sex differences on core symptoms of autism and PC in 214 preschoolers with ASD (mean age, 45.26) without impairment in non-verbal IQ (nvIQ ≥70). A total of 107 ASD females (mean age, 44.51 ± 13.79 months) were matched one by one with 107 males (mean age, 46.01 ± 13.42 months) for chronological age (±6 months) and nvIQ (±6 points). We used the Autism Diagnostic Observation Schedule 2 (ADOS-2) and the Child Behavior Checklist (CBCL) 1.5-5 to explore autism severity and PC. The results highlight that ASD females did not significantly differ from ASD males regarding the severity of autism. Statistically significant lower levels of emotionally reactive (p = 0.005, η2 = 0.04), anxious-depressed (p = 0.001, η 2 = 0.05), internalizing problems (p = 0.04, η 2 = 0.02), and DSM-Oriented Scales anxiety problems (p = 0.02, η 2 = 0.04) in ASD females than in ASD males were also detected. Our findings of no difference in the autism severity and lower internalizing problems in females than males with ASD extend the knowledge of autism in females during preschool years. Compared to other similar studies on this topic, we can state that these results are not supported by differences in nvIQ between sexes nor by the presence of cognitive impairment. It confirms the need for clinicians to consider sex differences when describing autism psychopathology.

How Attention to Faces and Objects Changes Over Time in Toddlers with Autism Spectrum Disorders: Preliminary Evidence from An Eye Tracking Study.

Further understanding of the longitudinal changes in visual pattern of toddlers with autism spectrum disorders (ASDs) is needed. We examined twelve 19 to 33-month-old toddlers at their first diagnosis (mean age: 25.1 months) and after six months (mean age: 31.7 months) during two initiating joint attention (IJA) tasks using eye tracking. Results were compared with the performance of age-matched typically developing (TD) toddlers evaluated at a single time-point. Autistic toddlers showed longitudinal changes in the visual sensory processing of the IJA tasks, approaching TD performance with an improvement in the ability to disengage and to explore the global space. Findings suggest the use of eye tracking technology as an objective, non-intrusive, adjunctive tool to measure outcomes in toddlers with ASD.

Parental Perspectives on Psychiatric Comorbidity in Preschoolers With Autism Spectrum Disorders Receiving Publicly Funded Mental Health Services.

An increased prevalence of psychiatric comorbidity (PC) in individuals with Autism Spectrum Disorders (ASD) is consistently reported. While several studies have examined PC in school-aged children, adolescents and adults with ASD, investigations on PC in preschoolers are less common. In this study, we explore the prevalence and the type of PC in a sample of 989 preschoolers with ASD through the DSM-Oriented Scales (DOS) of the Child Behavior Checklist (CBCL 1½-5) and their possible links with the core features of ASD and cognitive functioning. Results indicated that 37.8% of the sample had at least one PC in addition to ASD; these subjects displayed significantly higher Total score (p = 0.02) and Social Affect score (p = 0.003) on the ADOS-based calibrated severity scores (CSS), as well as lower (p ≤ 0.0001) performance IQ (pIQ) compared to ASD individuals without PC. As far as the specific DOS, Affective Problems (AP) were detected in 23.4% of the whole sample, ADHD Problems (ADHD) in 17.3%, Anxiety Problems (AXP) in 16.7%, and Oppositional Problems (OP) in 7.9%. These different comorbidities were isolated in 195 subjects (Mono-comorbid group: 19.7% of the whole sample), while 179 subjects (18.1% of the whole sample) had two or more types of PC (Multi-comorbid group). One-way ANOVA revealed that subjects with multi-comorbidity have statistically significant lower pIQ and higher Total score and Social Affect score on CSS-ADOS. Specific differences for each type of comorbidity and gender differences were also discussed. Taken together, results indicate a considerable presence of PC in preschoolers with ASD that should be accurately considered during the assessment and diagnosis process in order to plan a tailored intervention based not only on core symptoms of ASD, but also on comorbid psychiatric condition since preschool age.

Hemispheric language organization after congenital left brain lesions: A comparison between functional transcranial Doppler and functional MRI.

This study investigated whether functional transcranial Doppler ultrasound (fTCD) is a suitable tool for studying hemispheric lateralization of language in patients with pre-perinatal left hemisphere (LH) lesions and right hemiparesis. Eighteen left-hemisphere-damaged children and young adults and 18 healthy controls were assessed by fTCD and fMRI to evaluate hemispheric activation during two language tasks: a fTCD animation description task and a fMRI covert rhyme generation task. Lateralization indices (LIs), measured by the two methods, differed significantly between the two groups, for a clear LH dominance in healthy participants and a prevalent activation of right hemisphere in more than 80% of brain-damaged patients. Distribution of participants in terms of left, right, and bilateral lateralization was highly concordant between fTCD and fMRI values. Moreover, right hemisphere language dominance in patients with left hemispheric lesions was significantly associated with severity of cortical and subcortical damage in LH. This study suggests that fTCD is an easily applicable tool that might be a valid alternative to fMRI for large-scale studies of patients with congenital brain lesions.

Independent adaptation mechanisms for numerosity and size perception provide evidence against a common sense of magnitude.

How numerical quantity is processed is a central issue for cognition. On the one hand the "number sense theory" claims that numerosity is perceived directly, and may represent an early precursor for acquisition of mathematical skills. On the other, the "theory of magnitude" notes that numerosity correlates with many continuous properties such as size and density, and may therefore not exist as an independent feature, but be part of a more general system of magnitude. In this study we examined interactions in sensitivity between numerosity and size perception. In a group of children, we measured psychophysically two sensory parameters: perceptual adaptation and discrimination thresholds for both size and numerosity. Neither discrimination thresholds nor adaptation strength for numerosity and size correlated across participants. This clear lack of correlation (confirmed by Bayesian analyses) suggests that numerosity and size interference effects are unlikely to reflect a shared sensory representation. We suggest these small interference effects may rather result from top-down phenomena occurring at late decisional levels rather than a primary "sense of magnitude".

Pupillometry reveals perceptual differences that are tightly linked to autistic traits in typical adults.

The pupil is primarily regulated by prevailing light levels but is also modulated by perceptual and attentional factors. We measured pupil-size in typical adult humans viewing a bistable-rotating cylinder, constructed so the luminance of the front surface changes with perceived direction of rotation. In some participants, pupil diameter oscillated in phase with the ambiguous perception, more dilated when the black surface was in front. Importantly, the magnitude of oscillation predicts autistic traits of participants, assessed by the Autism-Spectrum Quotient AQ. Further experiments suggest that these results are driven by differences in perceptual styles: high AQ participants focus on the front surface of the rotating cylinder, while those with low AQ distribute attention to both surfaces in a more global, holistic style. This is the first evidence that pupillometry reliably tracks inter-individual differences in perceptual styles; it does so quickly and objectively, without interfering with spontaneous perceptual strategies.

Reprint of "Investigating ensemble perception of emotions in autistic and typical children and adolescents".

Ensemble perception, the ability to assess automatically the summary of large amounts of information presented in visual scenes, is available early in typical development. This ability might be compromised in autistic children, who are thought to present limitations in maintaining summary statistics representations for the recent history of sensory input. Here we examined ensemble perception of facial emotional expressions in 35 autistic children, 30 age- and ability-matched typical children and 25 typical adults. Participants received three tasks: a) an 'ensemble' emotion discrimination task; b) a baseline (single-face) emotion discrimination task; and c) a facial expression identification task. Children performed worse than adults on all three tasks. Unexpectedly, autistic and typical children were, on average, indistinguishable in their precision and accuracy on all three tasks. Computational modelling suggested that, on average, autistic and typical children used ensemble-encoding strategies to a similar extent; but ensemble perception was related to non-verbal reasoning abilities in autistic but not in typical children. Eye-movement data also showed no group differences in the way children attended to the stimuli. Our combined findings suggest that the abilities of autistic and typical children for ensemble perception of emotions are comparable on average.