Autism Diagnostic Interview-Revised Research Articles

Assessment of Psychotic Risk in a Sample of Children and Adolescents with Autism Spectrum Disorder Compared to a Group of "Clinical High Risk" Patients: A Preliminary Study.

Autism spectrum disorder and psychotic risk show several overlapping symptoms, so differential diagnosis is often difficult. In addition, there is a high rate of comorbidity between the two conditions, which further complicates the work of clinicians. We evaluated the presence of subthreshold psychotic symptoms and/or defined psychotic risk syndromes in autistic children and adolescents; we compared the prevalence, type, and severity of psychotic risk symptoms with those of a group of non-autistic patients at clinical high risk for psychosis (CHR-P). 2. In total, 23 autistic patients and 14 CHR-P patients without autism (aged 8-17) were enrolled in the study. The main assessment was made through clinical interviews for autism (Autism Diagnostic Observation Schedule, Second Edition-ADOS-2, Autism Diagnostic Interview, Revised-ADI-R) and psychotic risk (Schizophrenia Proneness Instrument, Child and Youth version-SPI-CY, Structured Interview for Psychosis Risk Syndromes-SIPS). 3. No above-threshold psychotic risk symptoms were detected in our autistic patients, but subthreshold psychotic symptoms were identified in all areas. Specific items from all four dimensions of SIPS appear to be more specific for psychotic risk than autism without comorbidity. 4. An a priori screening of psychotic risk in neurodiverse populations is fundamental to prevent more severe conditions. Research should clarify the effective specificity of the available tools to modify them to improve their detection capability.

A Preliminary Trial of an Early Surveillance Program for Autism and Developmental Delays within General Practices

AbstractThere are inequities in engagement with established early childhood developmental surveillance programs, eclipsing disadvantaged families. The current study sought to address this by dovetailing developmental surveillance with immunization visits and other opportunistic contacts with children at general practices). While 53 General Practices were recruited, significant COVID-19 disruptions resulted in only 81 children being screened (both parent-administered and GP completed). Of the 81 children, 11 screened positive and all of them along with 5% of screen negatives (i.e. 4 children) received clinician-administered reference-standard assessment for autism and developmental delay (DD) using Autism Diagnostic Observation Schedule (ADOS), Autism Diagnostic Interview Schedule –Revised (ADI-R), and Mullen Scales of Early Learning (MSEL). All children found by reference-standard assessment to have probable autism and/or DD had screened positive during the screening process, and 90.9% of children who screened positive were found by reference-standard assessment to have probable DD or autism. The findings provide early evidence for the feasibility and usefulness of parent completed and GP administered developmental measures during opportunistic contacts with GPs as a promising method to facilitate early identification of DD or autism.

Experiences and concerns of parents of children with a 16p11.2 deletion or duplication diagnosis: a reflexive thematic analysis

Background16p11.2 proximal deletion and duplication syndromes (Break points 4–5) (593KB, Chr16; 29.6-30.2mb - HG38) are observed to have highly varied phenotypes, with a known propensity for lifelong psychiatric problems. This study aimed to contribute to a research gap by qualitatively exploring the challenges families with 16p11.2 deletion and duplication face by answering three research questions: (1) What are parents’ perceptions of the ongoing support needs of families with children who have 16p11.2 living in the UK?; (2) What are their experiences in trying to access support?; (3) In these regards, do the experiences of parents of children with duplication converge or vary from those of parents of children with 16p11.2 deletion?Methods33 parents with children (aged 7–17 years) with 16p11.2 deletion or duplication participated in structured interviews, including the Autism Diagnostic Interview– Revised (ADI-R). Their answers to the ADI-R question ‘what are your current concerns’ were transcribed and subsequently analysed using Braun and Clarke’s six step reflexive thematic analysis framework.ResultsThree themes were identified: (1) Child is Behind Peers (subthemes: developmentally; academically; socially; emotionally); (2) Metabolism and Eating Patterns and; (3) Support (subthemes: insufficient support available; parent has to fight to access support; COVID-19 was a barrier to accessing support; 16p11.2 diagnosis can be a barrier to support, child is well-supported).ConclusionsParents of children with either 16p11.2 deletion or duplication shared similar experiences. However, metabolism concerns were specific to parents of children with 16p11.2 deletion. The theme Child is Behind Peers echoed concerns raised in previous Neurodevelopmental Copy Number Variant research. However, there were some key subthemes relating to research question (2) which were specific to this study. This included parents’ descriptions of diagnostic overshadowing and the impact of a lack of eponymous name and scant awareness of 16p11.2.

Age at initial diagnosis of autism spectrum disorders: a retrospective comparison of screening techniques between the southern and northwestern regions of Switzerland.

Early diagnosis of autism spectrum disorders (ASD) offers the possibility of early intervention and, in turn, gains in adaptive behaviour, language and cognition. The aim of the present study was to analyse whether age at diagnosis of autism spectrum disorders decreased in two regions of Switzerland from 2006 to 2016 following the implementation of different screening and referral techniques. In southern Switzerland, systematic paediatric screening using the Modified Checklist for Autism (M-CHAT) in toddlers was implemented in 2013, whereas in northwestern Switzerland, periodic trainings were used to increase paediatrician awareness of ASD. We investigated which method was associated with a younger average age at diagnosis. We conducted a retrospective, two-centre study searching clinical records of children and adolescents (aged 0-16 years) diagnosed with ASD in two neuropaediatric departments at Swiss hospitals between January 2006 and December 2016. All patients were diagnosed via a standardised evaluation based on two approved diagnostic tests: the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and the Autism Diagnostic Interview-Revised (ADI-R). In southern Switzerland, training and subsequent widespread use of the M-CHAT among paediatricians appeared to contribute to a significantly younger age at diagnosis. Age at diagnosis did not significantly decrease during the same period in northwestern Switzerland. Our results point to the possibility of successfully reducing age at diagnosis in specific geographic areas through the implementation of screening questionnaires, such as the M-CHAT, at year 2 well-baby visits.

Autism spectrum disorder prevalence in Italy: a nationwide study promoted by the Ministry of Health

BackgroundThis nationwide study aimed to estimate Autism Spectrum Disorder (ASD) prevalence in 7–9-year-old Italian children. Promoted by Italy's Ministry of Health and coordinated by the National Observatory for Autism at the National Institute of Health, it covered schools in northern (Lecco and Monza-Brianza), central (Rome and its province), and southern (Palermo and its province) regions from February 24, 2016, to February 23, 2018, using a multi-stage approach defined by the European Union's ASD network.MethodsPhase one identified ASD-diagnosed children in mainstream schools through local Ministry of Education (MoE) disability registries. Phase two had a subset of schools screen 7–9-year-olds using the Social Communication Questionnaire-Life version (SCQ-L). Those with SCQ-L scores of 15 + underwent clinical consultation for ASD symptoms, cognitive abilities, and life skills. To counter potential false negatives, 20% scoring 11–14 were randomly assessed via Autism Diagnostic Interview-Revised (ADI-R).ResultsMoE data revealed 9.8 per 1000 certified ASD children in the north, 12.2 in the central, and 10.3 in the south. In phase two, 35,823 SCQ-L questionnaires were distributed across 198 schools (northern: 11,190 in 49 schools, central: 13,628 in 87 schools, southern: 11,005 in 62 schools). Of SCQ-L respondents, 2.4% (n = 390) scored above the 15 cutoff. Among these, 100 had ASD diagnoses, and 50 had other diagnoses. Among 115 families assessed, 16.5% (n = 19) received ASD diagnoses.ConclusionsThe estimated prevalence of ASD in Italy was 13.4 (11.3–16.0) per 1,000 children aged 7–9 years, with a male-to-female ratio of 4.4:1. It will guide national policies in enhancing services tailored to the specific needs of autistic children.

0789 Sleep Spindle Density is Associated with Core Symptom Severity in Autism Spectrum Disorder

Abstract Introduction Converging evidence suggests that dysregulation of thalamocortical interactions, mediated by the thalamic reticular nucleus (TRN), contributes to the expression of autism spectrum disorder (ASD). Risk genes for ASD have been found to affect the TRN early in development. Two hallmarks of NREM sleep –slow oscillations (SO) and sleep spindles– reflect TRN function and distinct thalamic/thalamocortical circuits. While studies demonstrate disrupted sleep quality that correlates with symptoms in children with ASD, studies of spindles in ASD have produced inconsistent findings. It is yet unclear if and how spindle properties are associated with ASD symptoms. Herein, based on studies implicating TRN-mediated thalamocortical dysregulation in ASD, we hypothesized that 1) sleep spindles are reduced in ASD; 2) spindle abnormalities correlate with worse clinical symptoms and cognition. Methods Forty participants with ASD (32 males, age: 11.8 ± 3.2; range 6-15) and 46 typically developing (TD) controls (32 males, age: 11.2 ± 2.3; range 6-15) participated in the study. All participants underwent ambulatory overnight polysomnography (PSG) for sleep assessment after systematic desensitization. The Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R) were used to assess core behavioral symptoms. Results Spindle density was significantly lower in ASD compared to TD participants (ASD: 2.5 ± 2.0; TD: 3.0 ± 2.1; d= 0.45, p=0.01). In the ASD group, less spindle density was associated with more severe behavioral symptoms, as measured by the total ADOS score (R2=0.15, p=0.01) and the three main subscales of the ADI-R (reciprocal social interaction: R2=0.22, p=0.002; communication and language: R2=0.19, p=0.003; and restricted and repetitive, stereotyped interests and behaviors: R2=0.14, p=0.01). Conclusion Alterations in the maturational trajectory of spindles are related to the core symptoms of ASD individuals. The results have the potential to identify novel biomarkers that index distinct aspects of ASD pathophysiology and point to multiple neural mechanisms underlying disease heterogeneity. The study may contribute to producing novel evidence to elucidate the bidirectional relationship between sleep and ASD. Support (if any) Simons Foundation Autism Research Initiative grant (177986).

Stratifying ASD and characterizing the functional connectivity of subtypes in resting-state fMRI

Although stratifying autism spectrum disorder (ASD) into different subtypes is a common effort in the research field, few papers have characterized the functional connectivity alterations of ASD subgroups classified by their clinical presentations. This is a case-control rs-fMRI study, based on large samples of open database (Autism Brain Imaging Data Exchange, ABIDE). The rs-MRI data from n=415 ASD patients (males n=357), and n=574 typical development (TD) controls (males n=410) were included. Clinical features of ASD were extracted and classified using data from each patient's Autism Diagnostic Interview-Revised (ADI-R) evaluation. Each subtype of ASD was characterized by local functional connectivity using regional homogeneity (ReHo) for assessment, remote functional connectivity using voxel-mirrored homotopic connectivity (VMHC) for assessment, the whole-brain functional connectivity, and graph theoretical features. These identified imaging properties from each subtype were integrated to create a machine learning model for classifying ASD patients into the subtypes based on their rs-fMRI data, and an independent dataset was used to validate the model. All ASD participants were classified into Cluster-1 (patients with more severe impairment) and Cluster-2 (patients with moderate impairment) according to the dimensional scores of ADI-R. When compared to the TD group, Cluster-1 demonstrated increased local connection and decreased remote connectivity, and widespread hyper- and hypo-connectivity variations in the whole-brain functional connectivity. Cluster-2 was quite similar to the TD group in both local and remote connectivity. But at the level of whole-brain functional connectivity, the MCC-related connections were specifically impaired in Cluster-2. These properties of functional connectivity were fused to build a machine learning model, which achieved ~75% for identifying ASD subtypes (Cluster-1 accuracy = 81.75%; Cluster-2 accuracy = 76.48%). The stratification of ASD by clinical presentations can help to minimize disease heterogeneity and highlight the distinguished properties of brain connectivity in ASD subtypes.

The Neurogenetics of Functional Connectivity Alterations in Autism: Insights From Subtyping in 657 Individuals

BackgroundThere is little consensus and controversial evidence on anatomical alterations in the brains of people with autism spectrum disorder (ASD), due in part to the large heterogeneity present in ASD, which in turn is a major drawback for developing therapies. One strategy to characterize this heterogeneity in ASD is to cluster large-scale functional brain connectivity profiles. MethodsA subtyping approach based on consensus clustering of functional brain connectivity patterns was applied to a population of 657 autistic individuals with quality-assured neuroimaging data. We then used high-resolution gene transcriptomic data to characterize the molecular mechanism behind each subtype by performing enrichment analysis of the set of genes showing a high spatial similarity with the profiles of functional connectivity alterations between each subtype and a group of typically developing control participants. ResultsTwo major stable subtypes were found: subtype 1 exhibited hypoconnectivity (less average connectivity than typically developing control participants) and subtype 2, hyperconnectivity. The 2 subtypes did not differ in structural imaging metrics in any of the analyzed regions (68 cortical and 14 subcortical) or in any of the behavioral scores (including IQ, Autism Diagnostic Interview, and Autism Diagnostic Observation Schedule). Finally, only subtype 2, comprising about 43% of ASD participants, led to significant enrichments after multiple testing corrections. Notably, the dominant enrichment corresponded to excitation/inhibition imbalance, a leading well-known primary mechanism in the pathophysiology of ASD. ConclusionsOur results support a link between excitation/inhibition imbalance and functional connectivity alterations, but only in one ASD subtype, overall characterized by brain hyperconnectivity and major alterations in somatomotor and default mode networks.

Web-based autism screening using facial images and convolutional neural network

Developmental disabilities such as autism spectrum disorder (ASD) affect a person’s ability to interact socially, and communicate effectively and also cause behavioral issues. Children with ASD cannot be cured but they might benefit from early intervention to enhance their cognitive abilities, favorite their growth , and affect their lives and families in a positive way. Multiple standard ASD screening tools are used such as the autism diagnostic observational schedule (ADOS) and the autism diagnostic interview (ADI), which are known to be lengthy and challenging without specialist training to administrate and score. The process of ASD assessment can be time-consuming and costly, and the growing number of autistic cases worldwide indicates an urgent need for a quick, simple, and dependable self-administered autism screening tool that may be used if a child displays some of the common signs of autism, and to ensure whether or not he should seek professional full ASD diagnosis. According to a number of studies, ASD individuals exhibit facial phenotypes that are distinct from those of normally developing children. Furthermore, convolutional neural networks (CNN) have mostly found utility in image classification applications due to their high classification accuracy. Using facial images, a dense convolutional network (Densenet) model, and cloud-based advantages, in this paper we proposed a practical, fast, and easy-to-use ASD online screening approach. Easily available through the internet via the link “https://asd-detector.herokuapp.com/”, our suggested web-based screening instrument may be a practical and trustworthy tool for practitioners in their ASD diagnostic procedures with a 98 percent testing dataset classification accuracy.

Psychometric properties of the Mandarin version of the autism diagnostic observation Schedule-Generic

The diagnosis of autism spectrum disorder (ASD), involving multiple components of clinical assessments, is challenging. The Autism Diagnostic Observation Schedule-Generic (ADOS-G), one of the standardized and validated instruments for ASD diagnostic evaluation, has been widely used in many countries. With the preparation of the Mandarin version of the ADOS-G (Mandarin-ADOS-G), this study aims to examine its psychometric properties, including reliability and validity. The sample included 554 individuals clinically diagnosed with ASD (477 males, 86.1%) and 50 typically developing (TD) individuals (29 males, 58.0%) who were assessed with different modules of the Mandarin-ADOS-G between 4.1 and 34.0 years old with a mean age of 13.0 years (Module 1, n=40; Module 2, n=46; Module 3, n=275; Module 4, n=243). We evaluated the inter-rater reliability, test-retest reliability, internal consistency, and concurrent validity with the Chinese Autism Diagnostic Interview-Revised (ADI-R) and Social Responsiveness Scale (SRS) caregiver-report and self-report forms. The discriminative validity of Mandarin-ADOS-G was also examined. The Mandarin-ADOS-G demonstrated good inter-rater reliability (agreement of ADOS classification 0.91), good test-retest reliability (intraclass correlations 0.55-0.73), and low to high good internal consistency (Cronbach's alpha 0.27-0.86). The concurrent validity showed significant correlations with ADI-R (Pearson correlations 0.22-0.37) and the SRS caregiver-report form (Pearson correlations 0.15-0.23). Moreover, all Mandarin-ADOS-G domains successfully differentiated autistic individuals from TD individuals (all p-values <0.001). The Mandarin-ADOS-G is a reliable and valid instrument for assisting the diagnosis of ASD in the Mandarin-speaking population.

Gray matter asymmetry atypical patterns in subgrouping minors with autism based on core symptoms.

Abnormal gray matter (GM) asymmetry has been verified in autism spectrum disorder (ASD), which is characterized by high heterogeneity. ASD is distinguished by three core symptom domains. Previous neuroimaging studies have offered support for divergent neural substrates of different core symptom domains in ASD. However, no previous study has explored GM asymmetry alterations underlying different core symptom domains. This study sought to clarify atypical GM asymmetry patterns underlying three core symptom domains in ASD with a large sample of 230 minors with ASD (ages 7-18 years) and 274 matched TD controls from the Autism Brain Imaging Data Exchange I (ABIDE I) repository. To this end, the scores of the revised autism diagnostic interview (ADI-R) subscales were normalized for grouping ASD into three core-symptom-defined subgroups: social interaction (SI), verbal communication (VA), and restricted repetitive behaviors (RRB). We investigated core-symptom-related GM asymmetry alterations in ASD resulting from advanced voxel-based morphometry (VBM) by general linear models. We also examined the relationship between GM asymmetry and age and between GM asymmetry and symptom severity assessed by the Autism Diagnostic Observation Schedule (ADOS). We found unique GM asymmetry alterations underlying three core-symptom-defined subgroups in ASD: more rightward asymmetry in the thalamus for SI, less rightward asymmetry in the superior temporal gyrus, anterior cingulate and caudate for VA, and less rightward asymmetry in the middle and inferior frontal gyrus for RRB. Furthermore, the asymmetry indexes in the thalamus were negatively associated with ADOS_SOCIAL scores in the general ASD group. We also showed significant correlations between GM asymmetry and age in ASD and TD individuals. Our results support the theory that each core symptom domain of ASD may have independent etiological and neurobiological underpinnings, which is essential for the interpretation of heterogeneity and the future diagnosis and treatment of ASD.

Excitatory/inhibitory imbalance in autism: the role of glutamate and GABA gene-sets in symptoms and cortical brain structure

The excitatory/inhibitory (E/I) imbalance hypothesis posits that imbalance between excitatory (glutamatergic) and inhibitory (GABAergic) mechanisms underlies the behavioral characteristics of autism. However, how E/I imbalance arises and how it may differ across autism symptomatology and brain regions is not well understood. We used innovative analysis methods—combining competitive gene-set analysis and gene-expression profiles in relation to cortical thickness (CT) to investigate relationships between genetic variance, brain structure and autism symptomatology of participants from the AIMS-2-TRIALS LEAP cohort (autism = 359, male/female = 258/101; neurotypical control participants = 279, male/female = 178/101) aged 6–30 years. Using competitive gene-set analyses, we investigated whether aggregated genetic variation in glutamate and GABA gene-sets could be associated with behavioral measures of autism symptoms and brain structural variation. Further, using the same gene-sets, we corelated expression profiles throughout the cortex with differences in CT between autistic and neurotypical control participants, as well as in separate sensory subgroups. The glutamate gene-set was associated with all autism symptom severity scores on the Autism Diagnostic Observation Schedule-2 (ADOS-2) and the Autism Diagnostic Interview-Revised (ADI-R) within the autistic group. In adolescents and adults, brain regions with greater gene-expression of glutamate and GABA genes showed greater differences in CT between autistic and neurotypical control participants although in opposing directions. Additionally, the gene expression profiles were associated with CT profiles in separate sensory subgroups. Our results suggest complex relationships between E/I related genetics and autism symptom profiles as well as brain structure alterations, where there may be differential roles for glutamate and GABA.

Review of Progress in Diagnostic Studies of Autism Spectrum Disorder Using Neuroimaging.

This review article summarizes the recent advances in the diagnostic studies of autism spectrum disorders (ASDs) considering some of the most influential research articles from the last two decades. ASD is a heterogeneous neurodevelopmental disorder characterized by abnormalities in social interaction, communication, and behavioral patterns as well as some unique strengths and differences. The current diagnosis systems are based on autism diagnostic observation schedule (ADOS) or autism diagnostic interview-revised (ADI-R), but biological markers are also important for an effective diagnosis of ASDs. The amalgamation of neuroimaging techniques, such as structural and functional magnetic resonance imaging (sMRI and fMRI), with machine-learning and deep-learning approaches helps throw new light on typical biological markers of ASDs at the early stage of life. To assess the performance of a deep neural network, we develop a light-weighted CNN model for ASD classification. The overall accuracy, precision, and F1-score of the proposed model are 99.92%, 99.93% and 99.92%, respectively. All the neuroimaging studies we have reviewed can be divided into 3 categories, viz. thickness, volume and functional connectivity-based studies. We conclude with a discussion of the major findings of considered studies and promising directions for future research in this field.

Comparing autism phenotypes in children born extremely preterm and born at term.

Children born preterm are at increased risk for autism spectrum disorder (ASD). There is limited knowledge about whether ASD phenotypes in children born preterm differ from children born at term. The objective of this study was to compare ASD core symptoms and associated characteristics among extremely preterm (EP) and term-born children with ASD. EP participants (n=59) from the Extremely Low Gestational Age Newborn Study who met diagnostic criteria for ASD at approximately 10 years of age were matched with term-born participants from the Simons Simplex Collection on age, sex, spoken language level, and nonverbal IQ. Core ASD symptomatology was evaluated with the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS). Developmental milestones, anthropometrics, seizure disorder, and psychiatric symptoms were also investigated. The EP group had lower parent-reported symptom scores on ADI-R verbal communication, specifically stereotyped language, and restricted, repetitive behaviors. There were no between-group differences on ADI-R nonverbal communication and ADI-R reciprocal social interaction or with direct observation on the ADOS-2. The EP group was more likely to have delayed speech milestones and lower physical growth parameters. Results from female-only analyses were similar to those from whole-group analyses. In sum, behavioral presentation was similar between EP and IQ- and sex-matched term-born children assessed at age 10 years, with the exception of less severe retrospectively reported stereotyped behaviors, lower physical growth parameters, and increased delays in language milestones among EP-born children with ASD.

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 Review of Autism Spectrum Disorder Diagnostic Tools

This is an overview of diagnostic tools implemented worldwide for Autism Spectrum Disorder (ASD). In this analysis, the benefits and disadvantages of each autism spectrum disorder diagnosis diagnostic technique are discussed. Pediatrists and psychiatric professionals who are focused on linguistic delay, brain function, or behavioural problems such as aggression, tantrum, etc. have currently noted the extent of impairments. The defects are assessed using multiple diagnostic tools. This review contrasts the seven forms of testing devices, including the Autism Diagnostic Observation Schedule (ADOS), Autism Diagnostic Interview-Revised (ADI-R), Childhood Autism Rating Scale (CARS), Gillian Autism Rating Scale (GARS), Diagnostic Interview for Social and Communication Disorder (DISCO), Developmental, Dimensional &amp; Diagnostic Interview (3DI), and Diagnostic and Statistical Manual of Mental Disorder (DSM). The advantages and limitations of each tool are discussed in detail.

RJAfinder: An automated tool for quantification of responding to joint attention behaviors in autism spectrum disorder using eye tracking data.

Deficits in responding to joint attention (RJA) are early symptoms of autism spectrum disorder (ASD). Currently, no automated tools exist for identifying and quantifying RJA behaviors. A few eye tracking studies have investigated RJA in ASD children but have produced conflicting results. In addition, little is known about the trajectory of RJA development through developmental age. Here, a new video was designed including 12 clips of an actor pointing to or looking at an object. Eye tracking technology was used to monitor RJA in three groups: 143 ASD children assessed with the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) (4-7 years old), 113 age- and gender-matched typically developing children (TDC), and 43 typically developing adults (TDA) (19-32 years old). RJAfinder was developed in R and MATLAB to quantify RJA events from the eye tracking data. RJA events were compared among the three groups. Spearman correlation coefficients between total number of RJA events in ASD and the Social Responsiveness Scale (SRS) scores were calculated. A logistic regression model was built using the average valid sampling rate and the total number of RJA events as two predictive variables to classify ASD and TDC groups. ASD children displayed statistically significantly less RJA events than the TDC and TDA groups with medium-to-large-sized effects. ASD and TDC children both displayed more RJA events in response to pointing stimuli than to looking stimuli. Our logistic regression model predicted ASD tendency with 0.76 accuracy in the testing set. RJA ability improved more slowly between the ages of 4-7 years old in the ASD group than in the TDC group. In ASD children, RJA ability showed negative correlation with SRS total T-score as well as the scores of five subdomains. Our study provides an automated tool for quantifying RJA and insights for the study of RJA in ASD children, which may help improve ASD screening, subtyping, and behavior interventions.

Sleep architecture is associated with core symptom severity in autism spectrum disorder.

While caregiver-reported sleep disturbances are common in children and adolescents with autism spectrum disorder (['), few studies have measured objective sleep in ASD compared to controls, and their findings are mixed. We investigated (1) differences in sleep architecture, specifically slow-wave sleep (SWS) and rapid eye movement (REM) sleep, between ASD and typically developing controls (TD); and (2) if any observed differences in sleep were associated with core ASD symptoms. We used ambulatory polysomnography (PSG) in 53 participants with ASD (ages 4-18) and 66 age-matched TD in their home sleeping environment. The primary outcome measures were SWS and REM sleep. Core behavioral ASD symptoms were assessed using the Autism Diagnostic Interview-Revised (ADI-R). Spectral power bands during sleep, and additional behavioral measures, were examined in exploratory analyses. Compared to TD, participants with ASD exhibited a higher SWS ratio and lower REM sleep ratio. Within the ASD group, higher SWS was associated with more severe symptoms on the Restricted, Repetitive, and Stereotyped Behaviors subscale of the ADI-R. No association was observed between REM sleep ratio and any ASD symptom. Increased SWS and reduced REM sleep ratio differentiated ASD from TD. However, only increased SWS was associated with more severe core ASD symptoms. Increased SWS may reflect neuronal immaturity specific to ASD in this age group. These findings may inform the underlying mechanisms of clinical symptoms observed in children and adolescents with ASD.

47 Prevalence of and Factors Associated with Language Impairment in Canadian Children with ASD

Abstract Background Autism Spectrum Disorder (ASD) is a life-long neurodevelopmental disorder affecting 1 in 66 Canadians aged 5-17, and language impairment is a common comorbidity in this population. We aimed to determine the relative prevalence of diagnosed language impairment in children with ASD. We also examined factors associated with language impairment in children with ASD. Objectives 1 – To determine the relative prevalence of language impairment in children diagnosed with ASD. 2 – To identify factors associated with language impairment in children with ASD. Design/Methods Our study sample included 6,862 children aged 0-19 years, assessed for ASD (61% diagnosed with ASD) between 2010-2017 in British Columbia, Canada. ASD was diagnosed by a provincially qualified specialist and the assessment included the use of the Autism Diagnostic Observation Schedule (ADOS-2) and Autism Diagnostic Interview-Revised (ADI-R). We also looked for associations between language impairment and gender, age, intellectual disability (ID), family history of language disorders, and attention deficit hyperactivity disorder (ADHD), using chi-square analyses. Results The overall prevalence of language impairment in children diagnosed with ASD (n = 1820, 44%) was similar to those not diagnosed (n = 1199, 44%). There was more mixed receptive/expressive (80% vs 65%) and less expressive only (22% vs 29%) language impairment in children diagnosed with ASD than without. Looking only at the children diagnosed with ASD, there was no significant difference when evaluating gender (boys 44%, girls 41%; p = 0.094), but younger age was positively associated with language impairment (age &amp;lt;6y 53%, ≥6y 24%; p &amp;lt; 0.01). Increasing severity of ID was negatively associated with language impairment (mild: 44%, p = 0.911; moderate: 33%, p = 0.001; severe: 21%, p &amp;lt; 0.001). Family history of speech language disorder was positively associated with language impairment (no family history 12%, family history 20%; p &amp;lt; 0.01). Presence of comorbid ADHD was negatively associated with language impairment (no ADHD 47%, ADHD 28%; p &amp;lt; 0.01). Conclusion In children who have been referred for an ASD assessment, the prevalence of language impairment is similar in those with and without ASD. Children with ASD are more likely to be diagnosed with mixed language impairment than expressive only language impairment, although this difference may in part be due to challenges in fully assessing a child with ASD’s receptive language.

Efficiency of attentional processes in attention network theory and autistic symptoms in adolescents with autism spectrum disorder.

BackgroundAttentional impairments in children with Autism Spectrum Disorder (ASD) have been studied extensively, particularly in toddlers and young children. Attentional processes in teenagers with ASD are not fully understood, nor are the relationships between attentional deficits and ASD symptoms in this group.MethodThe aim of this study was to measure the attentional characteristics that attention network theory posits as being related to attention processes: alerting, orientating, and executive attention. We included 37 adolescents (aged 12–20) with ASD and Wechsler IQ in the normal range (≥70) and 37 neurotypical counterparts (NT) matched in terms of age, gender, and IQ. Symptoms of ASD were measured using the Autism Diagnostic Observation Schedule – Second Edition (ADOS-2) and Autism Diagnostic Interview – Revised (ADI-R).ResultsThe adolescents with ASD reacted more slowly in all task conditions of the Attention Network Test and committed more errors in six of seven task conditions of this test. There were no group differences in the effects of alerting, orienting, and executive attention. We found moderate correlations of the effect of executive attention with three scales of ADOS-2 (communication, social functioning, and restricted behavior), as well as with the social scale and restricted behavior of ADI-R.ConclusionThe results indicate that adolescents with ASD performed tasks requiring alerting and orienting attention less efficiently than their counterparts in terms of correctness and reaction time. The relationships between executive attention measures and communication and social affect is discussed.