Profile Of Autism Spectrum Disorder Research Articles

Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1.

Studying Autism Spectrum Disorder (ASD) heterogeneity in biologically homogeneous samples may increase our knowledge of ASD etiology. Fragile X syndrome (FXS), Angelman syndrome (AS), Tuberous Sclerosis Complex (TSC), and Neurofibromatosis type 1 (NF1) are monogenic disorders with high a prevalence of ASD symptomatology. This study aimed to identify ASD symptom profiles in a large group of children and adolescents (0;9-28 years) with FXS, AS, TSC, and NF1. Data on ASD symptomatology (Autism Diagnostic Observation Scale (ADOS-2) & Social Responsiveness Scale (SRS-2)) were collected from children and adolescents with FXS (n = 54), AS (n = 93), TSC (n = 112), and NF1 (n = 278). To identify groups of individuals with similar ASD profiles, we performed two latent profile analyses. We identified a four-profile model based on the ADOS-2, with a (1) 'Non-spectrum symptom profile', (2) 'Social Affect symptom profile', (3)'Restricted/Repetitive Behaviors symptom profile', and (4)'ASD symptom profile'. We also identified a four-profile model based on the SRS, with a (1)'Non-clinical symptom profile', (2)'Mild symptom profile', (3)'Moderate symptom profile', and (4)'Severe symptom profile'. Although each syndrome group exhibited varying degrees of severity, they also displayed heterogeneity in the profiles in which they were classified. We found distinct ASD symptom profiles in a population consisting of children and adolescents with FXS, AS, TSC, and NF1. Our study highlights the importance of a personalized approach to the identification and management of ASD symptoms in rare genetic syndromes. Future studies should aim to include more domains of functioning and investigate the stability of latent profiles over time.

Inefficient and unique processing of social–emotional interference in school-aged children with high-functioning autism spectrum disorder

IntroductionInterest is growing in investigating the ability of children with autism spectrum disorder (ASD) to process social information under conflicting and complex environments. However, few studies have employed objective behavioral measures to directly explore the underlying profile of social–emotional interference control.MethodsIn the current study, 53 children with ASD and 53 typically developing (TD) control, aged 6–12 years, completed a set of modified flanker tasks involving arrows, schematic faces, same real faces (with facial interference by the same person), and different real faces (with facial interference by different people), respectively. Response time in incongruent (RTInc) and congruent conditions (RTCon), percentage of errors in incongruent (%ErrorInc) and congruent conditions (%ErrorCon), and flanker effect calculated by ΔRT = (RTInc − RTCon)/RTCon and Δ%Error = %ErrorInc − %ErrorCon were used as outcome metrics.ResultsWe obtained three major results: (1) the ASD group had longer RTInc and RTCon compared to the TD group in the arrow, schematic face, and same real-face tasks; (2) compared with the performance in the arrow flanker task, both groups exhibited longer RTs and reduced ΔRTs in the same real-face task; however, in the schematic-face task, longer RT and reduced ΔRT were exhibited in the TD group, but not in the ASD group; and (3) in the different real-face task, ASD group had higher %Error than the TD group, and %Error was negatively correlated with RT only in the ASD group.ConclusionThe current study delineates the inefficient processing of social–emotional interference in school-aged children with ASD and further suggests that these children might adopt a relatively optimized strategy like symbolization when dealing with emotional conflict. However, such compensatory cognitive strategies may be exhausted along with the increase in information load. These findings provide new perspectives of considering the difference more than difficulty in the cognitive profile of ASD, which will benefit the development of targeted behavioral interventions.

Autism spectrum disorder profiles in RASopathies: Asystematic review.

RASopathies are associated with an increased risk of autism spectrum disorder (ASD). For neurofibromatosis type 1 (NF1) there is ample evidence for this increased risk, while for other RASopathies this association has been studied less. No specific ASD profile has been delineated so far for RASopathies or a specific RASopathy individually. We conducted a systematic review to investigate whether a specific RASopathy is associated with a specific ASD profile, or if RASopathies altogether have a distinct ASD profile compared to idiopathic ASD (iASD). We searched PubMed, Web of Science, and Open Grey for data about ASD features in RASopathies and potential modifiers. We included 41 articles on ASD features in NF1, Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Individuals with NF1, NS, CS, and CFC on average have higher ASD symptomatology than healthy controls and unaffected siblings, though less than people with iASD. There is insufficient evidence for a distinct ASD phenotype in RASopathies compared to iASD or when RASopathies are compared with each other. We identified several potentially modifying factors of ASD symptoms in RASopathies. Our systematic review found no convincing evidence for a specific ASD profile in RASopathies compared to iASD, or in a specific RASopathy compared to other RASopathies. However, we identified important limitations in the research literature which may also account for this result. These limitations are discussed and recommendations for future research are formulated.

Sleep quality relates to language impairment in children with autism spectrum disorder without intellectual disability

ObjectivesThis study aimed to identify sleep quality profiles of children with autism spectrum disorder (ASD), to compare these profiles with those of typically developing (TD) children, and to verify whether there are differences between them in terms of language skills. MethodsWe evaluated the sleep quality and language skills of 47 children with ASD without intellectual disability (ID) and 32 children with TD. Using a hierarchical cluster analysis, we identified two sleep quality ASD profiles (poor and good). We then performed a series of MANCOVAs and ANOVAs to compare the sleep quality and language skills of the two ASD clusters and the TD group. ResultsA main group effect (TD, “poor” cluster, and “good” cluster) was found in the total sleep quality and all its dimensions. Significant differences were revealed between the “good” and “poor” clusters in the total structural language score (F1,46 = 10.75, p < 0.001) and three of its subscales (speech: F1,46 = 9.19, p < 0.001; syntax, F1,46 = 8.61, p = 0.001; coherence: F1,46 = 11.36, p < 0.001); the total pragmatic language score (F1,46 = 7.00, p = 0.001) and three of its subscales (inappropriate initiation: F1,46 = 8.02, p = 0.001; use of context: F1,46 = 8.07, p = 0.001; nonverbal communication: F1,46 = 7.35, p = 0.001); and the social relations score (F1,46 = 9.97, p = 0.003). ConclusionsSleep quality in children with ASD (especially a subgroup) is worse than in children with TD. There is an association between sleep quality and language skills, both at the pragmatic and structural levels.

Des-Arg(9) bradykinin as a causal metabolite for autism spectrum disorder.

Early diagnosis and therapeutic interventions can greatly enhance the developmental trajectory of children with autism spectrum disorder (ASD). However, the etiology of ASD is not completely understood. The presence of confounding factors from environment and genetics has increased the difficulty of the identification of diagnostic biomarkers for ASD. To estimate and interpret the causal relationship between ASD and metabolite profile, taking into consideration both genetic and environmental influences. A two-sample Mendelian randomization (MR) analysis was conducted using summarized data from large-scale genome-wide association studies (GWAS) including a metabolite GWAS dataset covering 453 metabolites from 7824 European and an ASD GWAS dataset comprising 18381 ASD cases and 27969 healthy controls. Metabolites in plasma were set as exposures with ASD as the main outcome. The causal relationships were estimated using the inverse variant weight (IVW) algorithm. We also performed leave-one-out sensitivity tests to validate the robustness of the results. Based on the drafted metabolites, enrichment analysis was conducted to interpret the association via constructing a protein-protein interaction network with multi-scale evidence from databases including Infinome, SwissTargetPrediction, STRING, and Metascape. Des-Arg(9)-bradykinin was identified as a causal metabolite that increases the risk of ASD (β = 0.262, SE = 0.064, PIVW = 4.64 × 10-5). The association was robust, with no significant heterogeneity among instrument variables (PMR Egger = 0.663, PIVW = 0.906) and no evidence of pleiotropy (P = 0.949). Neuroinflammation and the response to stimulus were suggested as potential biological processes mediating the association between Des-Arg(9) bradykinin and ASD. Through the application of MR, this study provides practical insights into the potential causal association between plasma metabolites and ASD. These findings offer perspectives for the discovery of diagnostic or predictive biomarkers to support clinical practice in treating ASD.

Risk factors and clinical profile of autism spectrum disorder in southern Brazil

In Brazil, as in other countries, it is expected a significant variation of epidemiological and clinical characteristics among individuals with autism spectrum disorder (ASD). This study was performed to explore maternal risk factors and clinical characteristics of children with ASD in a population located in southern Brazil. Data were collected from medical records and analyzed to explore biomarkers associated with ASD. Out of 321 children with ASD, 86.5% were males with a male-to-female ratio of 5.7:1, 50.7% were mild/moderate while 49.3% presented severe ASD. Between the risk factors investigated, gestational infection was significantly associated with severe ASD patients. There was also an association between epilepsy and severe autism. Several gastrointestinal (GI) symptoms were significantly associated with severe ASD. Obesity, followed by lower levels of cholesterol, were also significant factors associated with an ASD diagnosis when compared to age-matched controls. Finally, severe ASD was associated with significantly higher serum serotonin levels when compared to age-matched controls and mild/moderate ASD cases. Our findings demonstrate that our population shares many features associated with ASD around the world, such as GI symptoms, epilepsy, and high serotonin levels. It is worth highlighting the low cholesterol levels associated with obesity as an unusual feature that deserves more attention.

44 Functional Connectivity In The Default Mode Network Of ASD and ADHD

Objective:Autism Spectrum Disorders (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) are neurodevelopmental disorders with overlapping symptomatology and shared genetic makeup. Numerous previous studies have investigated ASD and ADHD using resting state functional networks. One functional network of particular interest is the Default Mode Network (DMN), as it has been shown to be abnormal in several mental disorders. Previous studies have investigated the DMN in ASD and ADHD separately but reported mixed trends of increased and decreased functional connectivity (FC) in the DMN in ASD and increased FC in ADHD. Additionally, little studies have investigated executive and attentional network dysfunction in the DMN for ASD and ADHD populations. To better understand the shared characteristics between ASD and ADHD, this study analyzed the DMN FC in children with ASD and ADHD.Participants and Methods:Archival datasets from Autism Brain Imaging Data Exchange (ABIDE)-I and ADHD-200 datasets were used, with 33 ADHD, 35 ASD, and 32 typically developing (TD) males (ages = 7-17 years). After applying a standard pre-processing pipeline, 11 regions of interest (ROIs) from the Dosenbach-160 atlas were examined with 55 ROI pairs generated for the 100 subjects.Results:Significant differences were noted between ASD-ADHD groups in attentional networks and executive functioning networks. Specifically, significant Group x VIQ interactions were noted for FC between the following pairs of regions: medial prefrontal cortex - ventromedial prefrontal cortex, anterior cingulate cortex -ventromedial prefrontal cortex, inferior temporal lobe - ventromedial prefrontal cortex, angular -ventromedial prefrontal cortex, angular -anterior cingulate cortex, inferior temporal lobe -ventrolateral prefrontal cortex, angular -superior frontal lobe, and intraparietal sulcus -superior frontal lobe. In the above FC pairs, FC in ADHD was negatively correlated with VIQ, with no correlation for ASD and positive correlation for TD. Previous literature has indicated that ADHD individuals demonstrate increased executive functioning deficits compared to ASD individuals. This study provides evidence at a neural level for these findings by demonstrating decreased FC trends in ADHD in attentional and executive functioning networks compared to ASD individuals. Group and VIQ main effects demonstrated mixed patterns across the three groups, as well as shared decreased FC in attention/executive networks for both ASD and ADHD groups.Conclusions:In summary, this study found similar findings from previous studies regarding mixed connectivity patterns, as well as shared dysfunction between ASD and ADHD groups. These results help in solidifying the theory that ASD and ADHD share clinical and neural patterns which need to be examined further. Future directions include utilizing more ASD+ADHD comorbid individuals in studies comparing ASD and ADHD FC trends as well as seeking to further understand the neuropsychological and neuroimaging profiles in ASD and ADHD.

Prevalence and Characteristics of Adolescents with Autism Spectrum Disorder in the New York-New Jersey Metropolitan Area.

Almost all epidemiologic studies estimating autism spectrum disorder (ASD) prevalence have focused on school-age children. This study provides the first population-based data on the prevalence and expression of ASD among adolescents in a large US metropolitan region. Active multiple source ASD surveillance of adolescents aged 16-years was conducted according to the Autism and Developmental Disabilities Monitoring (ADDM) Network method in a four-county New Jersey metropolitan region. Prevalence estimates are provided, characteristics are described and comparison of the distribution and characteristics of ASD is offered for this cohort, at 8 and 16-years. ASD prevalence was 17.7 per 1000 (95% CI: 16.3-19.2)]. One-in-55 males and one in 172 females were identified with ASD. High-SES was positively associated with ASD and White adolescents had higher ASD prevalence (22.2 per 1000) than Hispanic adolescents (13.1 per 1000). One in four study-confirmed individuals with ASD did not have an ASD diagnosis. A majority of ASD adolescents (58.8%) had a co-occurring neuropsychiatric disorder. White and High-SES individuals had greater likelihood of co-occurring disorder. The demographic distribution and functional profile of ASD was similar in this cohort at 8 and 16-years. Approximately one-in-55 adolescents in our area had ASD, in 2014, and one-in-4 16-year-olds with ASD was not diagnosed. A majority (3-in-5) of the adolescents with ASD had a co-occurring neuropsychiatric disorder. ASD under-identification and the high frequency of co-disorders in adolescents with ASD pose significant challenges to care and support.

Characterizing the autism spectrum phenotype in DYRK1A-related syndrome.

Likely gene-disrupting (LGD) variants in DYRK1A are causative of DYRK1A syndrome and associated with autism spectrum disorder (ASD) and intellectual disability (ID). While many individuals with DYRK1A syndrome are diagnosed with ASD, they may present with a unique profile of ASD traits. We present a comprehensive characterization of the ASD profile in children and young adults with LGDs in DYRK1A. Individuals with LGD variants in DYRK1A (n = 29) were compared to children who had ASD with no known genetic cause, either with low nonverbal IQ (n = 14) or average or above nonverbal IQ (n = 41). ASD was assessed using the ADOS-2, ADI-R, SRS-2, SCQ, and RBS-R. Quantitative score comparisons were conducted, as were qualitative analyses of clinicians' behavioral observations. Diagnosis of ASD was confirmed in 85% and ID was confirmed in 89% of participants with DYRK1A syndrome. Individuals with DYRK1A syndrome showed broadly similar social communication behaviors to children with idiopathic ASD and below-average nonverbal IQ, with specific challenges noted in social reciprocity and nonverbal communication. Children with DYRK1A syndrome also showed high rates of sensory-seeking behaviors. Phenotypic characterization of individuals with DYRK1A syndrome may provide additional information on mechanisms contributing to co-occurring ASD and ID and contribute to the identification of genetic predictors of specific ASD traits.

Distinct patterns of GABAergic interneuron pathology in autism are associated with intellectual impairment and stereotypic behaviors.

Autism spectrum disorder is a neurodevelopmental condition characterized by deficits in sociability and communication and the presence of repetitive behaviors. How specific pathological alterations of the brain contribute to the clinical profile of autism spectrum disorder remains unknown. We previously found that a specific type of inhibitory interneuron is reduced in number in the autism spectrum disorder prefrontal cortex. Here, we assessed the relationship between interneuron reduction and autism spectrum disorder symptom severity. We collected clinical records from autism spectrum disorder (n = 20) and assessed the relationship between the severity of symptoms and interneuron number. We found that the reduced number of inhibitory interneurons that we previously reported is linked to specific symptoms of autism spectrum disorder, particularly stereotypic movements and intellectual impairments.

Metal Profiles in Autism Spectrum Disorders: A Crosstalk between Toxic and Essential Metals

Since hundreds of years ago, metals have been recognized as impacting our body's physiology. As a result, they have been studied as a potential cure for many ailments as well as a cause of acute or chronic poisoning. However, the link between aberrant metal levels and neuropsychiatric illnesses such as schizophrenia and neurodevelopmental disorders, such as autism spectrum disorders (ASDs), is a relatively new finding, despite some evident ASD-related consequences of shortage or excess of specific metals. In this review, we will summarize past and current results explaining the pathomechanisms of toxic metals at the cellular and molecular levels that are still not fully understood. While toxic metals may interfere with dozens of physiological processes concurrently, we will focus on ASD-relevant activity such as inflammation/immune activation, mitochondrial malfunction, increased oxidative stress, impairment of axonal myelination, and synapse formation and function. In particular, we will highlight the competition with essential metals that may explain why both the presence of certain toxic metals and the absence of certain essential metals have emerged as risk factors for ASD. Although often investigated separately, through the agonistic and antagonistic effects of metals, a common metal imbalance may result in relation to ASD.

Heterogeneity and imbalance of reading profiles in Autism Spectrum Disorders

This study aimed to identify distinct reading profiles in 4–11-year-old Chinese autistic and neurotypical (NT) children and to examine the unique characteristics of each group. Forty-five autistic children and 45 NT comparisons matched on nonverbal IQ and age were assessed in a comprehensive reading battery including word reading, listening comprehension, and reading-related language skills. Using latent profile analysis, four reading profiles of autistic children emerged: readers with good decoding and listening comprehension skills (GDGL, 33.3 %), good decoders with poor listening comprehension skills (GDPL, 35.7 %), readers with average decoding and listening comprehension skills (ADAL, 20 %), and readers with poor decoding and listening comprehension skills (PDPL, 20 %). Furthermore, the results indicated an imbalanced pattern of reading profiles with over 50 % of autistic children performing well in certain reading abilities but poorly in other skills. The findings highlight the urgent need for designing individualized reading supports for autistic children.

1H-NMR-Based Metabolomics in Autism Spectrum Disorder and Pediatric Acute-Onset Neuropsychiatric Syndrome

We recently described a unique plasma metabolite profile in subjects with pediatric acute-onset neuropsychiatric syndrome (PANS), suggesting pathogenic models involving specific patterns of neurotransmission, neuroinflammation, and oxidative stress. Here, we extend the analysis to a group of patients with autism spectrum disorder (ASD), as a consensus has recently emerged around its immune-mediated pathophysiology with a widespread involvement of brain networks. This observational case-control study enrolled patients referred for PANS and ASD from June 2019 to May 2020, as well as neurotypical age and gender-matched control subjects. Thirty-four PANS outpatients, fifteen ASD outpatients, and twenty-five neurotypical subjects underwent physical and neuropsychiatric evaluations, alongside serum metabolomic analysis with 1H-NMR. In supervised models, the metabolomic profile of ASD was significantly different from controls (p = 0.0001), with skewed concentrations of asparagine, aspartate, betaine, glycine, lactate, glucose, and pyruvate. Metabolomic separation was also observed between PANS and ASD subjects (p = 0.02), with differences in the concentrations of arginine, aspartate, betaine, choline, creatine phosphate, glycine, pyruvate, and tryptophan. We confirmed a unique serum metabolomic profile of PANS compared with both ASD and neurotypical subjects, distinguishing PANS as a pathophysiological entity per se. Tryptophan and glycine appear as neuroinflammatory fingerprints of PANS and ASD, respectively. In particular, a reduction in glycine would primarily affect NMDA-R excitatory tone, overall impairing downstream glutamatergic, dopaminergic, and GABAergic transmissions. Nonetheless, we found metabolomic similarities between PANS and ASD that suggest a putative role of N-methyl-D-aspartate receptor (NMDA-R) dysfunction in both disorders. Metabolomics-based approaches could contribute to the identification of novel ASD and PANS biomarkers.

Multi-angle meta-analysis of the gut microbiome in Autism Spectrum Disorder: a step toward understanding patient subgroups

Observational studies have shown that the composition of the human gut microbiome in children diagnosed with Autism Spectrum Disorder (ASD) differs significantly from that of their neurotypical (NT) counterparts. Thus far, reported ASD-specific microbiome signatures have been inconsistent. To uncover reproducible signatures, we compiled 10 publicly available raw amplicon and metagenomic sequencing datasets alongside new data generated from an internal cohort (the largest ASD cohort to date), unified them with standardized pre-processing methods, and conducted a comprehensive meta-analysis of all taxa and variables detected across multiple studies. By screening metadata to test associations between the microbiome and 52 variables in multiple patient subsets and across multiple datasets, we determined that differentially abundant taxa in ASD versus NT children were dependent upon age, sex, and bowel function, thus marking these variables as potential confounders in case–control ASD studies. Several taxa, including the strains Bacteroides stercoris t__190463 and Clostridium M bolteae t__180407, and the species Granulicatella elegans and Massilioclostridium coli, exhibited differential abundance in ASD compared to NT children only after subjects with bowel dysfunction were removed. Adjusting for age, sex and bowel function resulted in adding or removing significantly differentially abundant taxa in ASD-diagnosed individuals, emphasizing the importance of collecting and controlling for these metadata. We have performed the largest (n = 690) and most comprehensive systematic analysis of ASD gut microbiome data to date. Our study demonstrated the importance of accounting for confounding variables when designing statistical comparative analyses of ASD- and NT-associated gut bacterial profiles. Mitigating these confounders identified robust microbial signatures across cohorts, signifying the importance of accounting for these factors in comparative analyses of ASD and NT-associated gut profiles. Such studies will advance the understanding of different patient groups to deliver appropriate therapeutics by identifying microbiome traits germane to the specific ASD phenotype.

A case-control study along with an epidemiological approach to CNTNAP2 polymorphism among Bangladeshi ASD children

ASD (Autism Spectrum Disorder) is a neuropsychiatric disorder with a hereditary component, and its prevalence in South Asia was assessed 1, out of every 93 children. Moreover, recent studies suggested that the etiology of autism is thought to be linked to anomalies in the synapse, where mutation or deletion of synaptic gene CNTNAP2 is responsible. Therefore, this research was aimed to find out specific signs and symptoms of ASD individuals as well as the distribution pattern of the CNTNAP2 allelic variant (rs7794745) as a genetic risk factor in the Bangladeshi population. A case-control study including an epidemiological survey to investigate the association and pathophysiology of CNTNAP2 (rs7794745) with ASD for the Bangladeshi population has been studied, where PCR-RFLP analysis and Sanger sequencing were used for 180 individuals (90 ASD samples and 90 healthy controls). Our retrieved data speculated a diverse clinical profile of ASD, in comparison to the control group (n=110); where 80.9% (p ≤0.001) of ASD patients (n =100) had severe social interaction difficulties, 50% (p ≤0.001) had language impairments, and 40.9% (p ≤0.001) had behavioral abnormalities. Furthermore, findings from Pearson’s chi-square test (p = 0.001) as well as logistic regression analysis of co-dominant (p = 0.0083), and recessive model (p = 0.0075) confirmed significant association between rs7794745 and in our studied sample. This research demonstrates the genetic variation of CNTNAP2 found in our studied population could open a new clue to identifying a reliable biomarker for early diagnosis of ASD though it is recommended that more study is needed with a larger group population. Asian J. Med. Biol. Res. 2022, 8 (2), 79-93

Exploring the selective gray matter profile of autism spectrum disorder through Bayes Factor Modeling

IntroductionDespite decades of brain MRI research demonstrating atypical neuroanatomical substrate in patients with autism spectrum disorder (ASD), it remains unclear whether and to what extent disorder-selective neuroanatomical abnormalities occur in this spectrum. This, and the fact that multiple brain disorders report a common neuroanatomical substrate, makes transference and the application of neuroimaging findings into the clinical setting an open challenge.ObjectivesTo investigate the selective neuroanatomical alteration profile of the ASD brain, we employed a meta-analytic, data-driven, and reverse inference-based approach (i.e.; Bayes fACtor mOdeliNg).MethodsEligible voxel-based morphometry data were extracted by a standardized search on BrainMap and MEDLINE databases (849 published experiments, 131 brain disorders, 22747 clinical subjects, 16572 x-y-z coordinates). Two distinct datasets were generated: the ASD dataset, composed of ASD-related data; and the non-ASD dataset, composed of all other clinical conditions data. Starting from the two unthresholded activation likelihood estimation (ALE) maps, the calculus of the Bayes fACtor mOdeliNg was performed. This allowed us to obtain posterior probability distributions on the evidence of brain alteration specificity in ASD.ResultsWe revealed both cortical and cerebellar areas of neuroanatomical alteration selectivity in ASD. Eight clusters showed a selectivity value ≥ 90%, namely the bilateral precuneus, the right inferior occipital gyrus, left lobule IX, left Crus II, right Crus I, and the right lobule VIIIA (Fig. 1).ConclusionsThe identification of this neuroanatomical pattern provides new insights into the complex pathophysiology of ASD, opening attractive prospects for future neuroimaging-based interventions.DisclosureNo significant relationships.

Comparing executive functions profiles in anorexia nervosa and autism spectrum disorder in adolescence.

ObjectiveExecutive functions (EFs) inefficiencies in anorexia nervosa (AN), especially in set‐shifting and central coherence, suggest a link between AN and autism spectrum disorders (ASDs). This study aimed at comparing EF profiles in AN and ASD, and investigating clinical variables associated with the identified EF difficulties.MethodOne hundred and sixty‐two adolescents with AN or ASD completed self‐report questionnaires assessing depression, anxiety and autism symptoms. Parents completed the behaviour rating of executive functions parent‐form (BRIEF‐P). Besides comparing EFs in AN and ASD, we also analysed clinical variables scoring below and above the mean age score across the all sample. We additionally examined the relationship between clinical variables and the BRIEF‐P indexes in AN.ResultsParticipants with ASD had greater EF difficulties than participants with AN on all BRIEF‐P scales. In the whole sample, higher autistic features were related to poorer EF. In AN, lower body mass index and particularly higher autism‐spectrum quotient (BRI: Beta = 0.55; p < 0.001 and GEC: Beta = 0.50; p < 0.001) were most strongly associated with poorer EF.ConclusionAlthough participants with ASD showed greater difficulties, autistic traits were related to alter EFs in AN. Exploring further this dimension can undeniably allow better adaptive cognitive remediation programs.

"Sequencing Matters": Investigating Suitable Action Sequences in Robot-Assisted Autism Therapy.

Social robots have been shown to be promising tools for delivering therapeutic tasks for children with Autism Spectrum Disorder (ASD). However, their efficacy is currently limited by a lack of flexibility of the robot’s social behavior to successfully meet therapeutic and interaction goals. Robot-assisted interventions are often based on structured tasks where the robot sequentially guides the child towards the task goal. Motivated by a need for personalization to accommodate a diverse set of children profiles, this paper investigates the effect of different robot action sequences in structured socially interactive tasks targeting attention skills in children with different ASD profiles. Based on an autism diagnostic tool, we devised a robotic prompting scheme on a NAO humanoid robot, aimed at eliciting goal behaviors from the child, and integrated it in a novel interactive storytelling scenario involving screens. We programmed the robot to operate in three different modes: diagnostic-inspired (Assess), personalized therapy-inspired (Therapy), and random (Explore). Our exploratory study with 11 young children with ASD highlights the usefulness and limitations of each mode according to different possible interaction goals, and paves the way towards more complex methods for balancing short-term and long-term goals in personalized robot-assisted therapy.

Clinical characteristics of adults suffering from high-functioning autism and comorbid obsessive-compulsive disorder

Autism spectrum disorder (ASD) is a very heterogeneous disorder. Obsessive compulsive disorder (OCD) comorbidity, frequent in ASD, could be useful to define a specific ASD subtype. Our objective was to explore if adults with ASD and comorbid OCD could present a specific clinical profile of ASD in 89 high functioning-adult ASD patients. We found that adults with ASD and comorbid OCD showed a lower verbal IQ and a more severe impairments in social cognition. ASD with comorbid OCD present a specific clinical profile which could constitute a possible subtype of ASD.

Revealing the Selectivity of Neuroanatomical Alteration in Autism Spectrum Disorder via Reverse Inference

BackgroundAlthough neuroimaging research has identified atypical neuroanatomical substrates in individuals with autism spectrum disorder (ASD), it is at present unclear whether and to what extent disorder-selective gray matter alterations occur in this spectrum of conditions. In fact, a growing body of evidence shows a substantial overlap between the pathomorphological changes across different brain diseases, which may complicate identification of reliable neural markers and differentiation of the anatomical substrates of distinct psychopathologies. MethodsUsing a novel data-driven and Bayesian methodology with published voxel-based morphometry data (849 peer-reviewed experiments and 22,304 clinical subjects), this study performs the first reverse inference investigation to explore the selective structural brain alteration profile of ASD. ResultsWe found that specific brain areas exhibit a >90% probability of gray matter alteration selectivity for ASD: the bilateral precuneus (Brodmann area 7), right inferior occipital gyrus (Brodmann area 18), left cerebellar lobule IX and Crus II, right cerebellar lobule VIIIA, and right Crus I. Of note, many brain voxels that are selective for ASD include areas that are posterior components of the default mode network. ConclusionsThe identification of these spatial gray matter alteration patterns offers new insights into understanding the complex neurobiological underpinnings of ASD and opens attractive prospects for future neuroimaging-based interventions.