Validation of an Enhanced Telehealth Platform for Toddlers at Increased Likelihood for a Diagnosis of Autism Spectrum Disorder (ASD).

Use of telehealth assessments for toddlers at increased likelihood of autism spectrum disorder (ASD) began prior to the global COVID-19 pandemic; however, the value of telehealth assessments as an alternative to in-person assessment (IPA) became clearer during the pandemic. The Naturalistic Observation Diagnosis Assessment (NODA™), previously demonstrated as a valid and reliable tool to evaluate asynchronous behaviors for early diagnosis, was enhanced to add synchronous collection of behaviors to assist clinicians in making a differential diagnosis of ASD. This study was conducted to validate the information gathered through NODA-Enhanced (NODA-E™) as compared to a gold standard IPA. Forty-nine toddlers aged 16.0-32.1 months of age, recruited through community pediatric offices and a tertiary ASD clinic, participated in both NODA-E and IPA assessments. There was high agreement between the two assessment protocols for overall diagnosis (46 of 49 cases; 93.6%; κ = .878), specific diagnostic criteria for social communication and social interaction (SCI; range 95.9-98%; κ = .918-.959), and for two of four criteria specified for restricted and repetitive behaviors (RRB; range 87.8-98%; κ = .755 and .959). There was lower agreement for two subcategories of RRBs (range 65.3-67.3%; κ = .306 and .347). NODA-E is a tool that can assist clinicians in making reliable and valid early ASD diagnoses using both asynchronous and synchronous information gathered via telehealth and offers an additional tool within a clinician's assessment toolbox.

Development of an interactive tool of early social responsiveness to track autism risk in infants and toddlers.

AIM: To evaluate the psychometric properties of a 4-minute assessment designed to identify early autism spectrum disorder (ASD) status through evaluation of early social responsiveness (ESR). METHOD: This retrospective, preliminary study included children between 13 and 24 months (78 males, 79 females mean age 19.4mo, SD 3.1) from two independent data sets (an experimental/training sample [n=120] and a validation/test sample [n=37]). The ESR assessment examined social behaviors (e.g. eye contact, smiling, ease-of-social-engagement) across five common play activities (e.g. rolling a ball, looking at a book). Data analyses examined reliability and accuracy of the assessment in identifying ESR abilities and in discriminating children with and without ASD. RESULTS: Results indicated adequate internal consistency and test-retest reliability of the ESR assessment. Receiver operator curve analysis identified a cutoff score that discriminated infants with ASD-risk from peers in the training sample. This score yielded moderate sensitivity and high specificity for best-estimate ASD diagnosis in the validation sample. INTERPRETATION: Preliminary findings indicated that brief, systematic observation of ESR may assist in discriminating infants with and without ASD, providing concrete evidence to validate or supplement parents', pediatricians', or clinicians' concerns. Future studies could examine the utility of ESR 'growth curves'.

The Role of Diagnostic Instruments in Dual and Differential Diagnosis in Autism Spectrum Disorder Across the Lifespan.

The heterogeneity inherent in autism spectrum disorder (ASD) makes the identification and diagnosis of ASD complex. We survey a large number of diagnostic tools, including screeners and tools designed for in-depth assessment. We also discuss the challenges presented by overlapping symptomatology between ASD and other disorders and the need to determine whether a diagnosis of ASD or another diagnosis best explains the individual's symptoms. We conclude with a call to action for the next steps necessary for meeting the diagnostic challenges presented here to improve the diagnostic process and to help understand each individual's particular ASD profile.

Diagnosis of Autism Spectrum Disorder Across the Lifespan.

Although autism spectrum disorder (ASD) is one of the most common neurodevelopmental disorders it is also one of the most heterogeneous conditions, making identification and diagnosis complex. The importance of a stable and consistent diagnosis cannot be overstated. An accurate diagnosis is the basis for understanding the individual and establishing an individualized treatment plan. We present those elements that should be included in any assessment for ASD and describe the ways in which ASD typically manifests itself at various developmental stages. The implications and challenges for assessment at different ages and levels of functioning are discussed.

Diagnosis of Autism Spectrum Disorder Across the Lifespan.

Although autism spectrum disorder (ASD) is one of the most common neurodevelopmental disorders it is also one of the most heterogeneous conditions, making identification and diagnosis complex. The importance of a stable and consistent diagnosis cannot be overstated. An accurate diagnosis is the basis for understanding the individual and establishing an individualized treatment plan. We present those elements that should be included in any assessment for ASD and describe the ways in which ASD typically manifests itself at various developmental stages. The implications and challenges for assessment at different ages and levels of functioning are discussed.

The Role of Diagnostic Instruments in Dual and Differential Diagnosis in Autism Spectrum Disorder Across the Lifespan.

The heterogeneity inherent in autism spectrum disorder (ASD) makes the identification and diagnosis of ASD complex. We survey a large number of diagnostic tools, including screeners and tools designed for in-depth assessment. We also discuss the challenges presented by overlapping symptomatology between ASD and other disorders and the need to determine whether a diagnosis of ASD or another diagnosis best explains the individual's symptoms. We conclude with a call to action for the next steps necessary for meeting the diagnostic challenges presented here to improve the diagnostic process and to help understand each individual's particular ASD profile.

Epigenetic modification of the oxytocin receptor gene: implications for autism symptom severity and brain functional connectivity.

The role of oxytocin in social cognition has attracted tremendous interest in social neuroscience and psychiatry. Some studies have reported improvement in social symptoms following oxytocin treatment in autism spectrum disorders (ASD), while others point to endogenous factors influencing its efficiency and to mixed results in terms of long-term clinical benefits. Epigenetic modification to the oxytocin receptor gene (OXTR) in ASD could be an informative biomarker of treatment efficacy. Yet, little is known about the relationship between OXTR methylation, clinical severity, and brain function in ASD. Here, we investigated the relationship between OXTR methylation, ASD diagnosis (in N = 35 ASD and N = 64 neurotypical group), measures of social responsiveness, and resting-state functional connectivity (rsFC) between areas involved in social cognition and reward processing (in a subset of ASD, N = 30). Adults with ASD showed higher OXTR methylation levels in the intron 1 area compared with neurotypical subjects. This hypermethylation was related to clinical symptoms and to a hypoconnectivity between cortico-cortical areas involved in theory of mind. Methylation at a CpG site in the exon 1 area was positively related to social responsiveness deficits in ASD and to a hyperconnectivity between striatal and cortical brain areas. Taken together, these findings provide initial evidence for OXTR hypermethylation in the intron area as a potential biomarker for adults with ASD with less severe developmental communication deficits, but with impairments in theory of mind and self-awareness. Also, OXTR methylation in the exon 1 area could be a potential biomarker of sociability sensitive to life experiences.

Disparities in Documented Diagnoses of Autism Spectrum Disorder Based on Demographic, Individual, and Service Factors.

The objectives of our study were to (a) report how many children met an autism spectrum disorder (ASD) surveillance definition but had no clinical diagnosis of ASD in health or education records and (b) evaluate differences in demographic, individual, and service factors between children with and without a documented ASD diagnosis. ASD surveillance was conducted in selected areas of Arizona, Arkansas, Colorado, Georgia, Maryland, Minnesota, Missouri, New Jersey, North Carolina, Tennessee, and Wisconsin. Children were defined as having ASD if sufficient social and behavioral deficits and/or an ASD diagnosis were noted in health and/or education records. Among 4,498 children, 1,135 (25%) had ASD indicators without having an ASD diagnosis. Of those 1,135 children without a documented ASD diagnosis, 628 (55%) were not known to receive ASD services in public school. Factors associated with not having a clinical diagnosis of ASD were non-White race, no intellectual disability, older age at first developmental concern, older age at first developmental evaluation, special education eligibility other than ASD, and need for fewer supports. These results highlight the importance of reducing disparities in the diagnosis of children with ASD characteristics so that appropriate interventions can be promoted across communities. Autism Res 2020, 13: 464-473. © 2019 International Society for AutismResearch,Wiley Periodicals, Inc. LAY SUMMARY: Children who did not have a clinical diagnosis of autism spectrum disorder (ASD) documented in health or education records were more likely to be non-White and have fewer developmental problems than children with a clinical diagnosis of ASD. They were brought to the attention of healthcare providers at older ages and needed fewer supports than children with a clinical diagnosis of ASD. All children with ASD symptoms who meet diagnostic criteria should be given a clinical diagnosis so they can receive treatment specific to their needs.

I Wanna Play Too: Factors Related to Changes in Social Behavior for Children With and Without Autism Spectrum Disorder After Implementation of a Structured Outdoor Play Curriculum.

Children with autism spectrum disorder (ASD) have difficulties interacting with same-aged peers during unstructured play (e.g., on the playground). Thirty-five toddler and preschool children with and without ASD participated in a structured 15-min outdoor play curriculum. The intervention, the Buddy Game, used familiar songs, movement, and games to promote peer social interaction. A 2 × 3 ANOVA assessed changes in overall targeted social behaviors during baseline, the Buddy Game, and generalization to free-pay. Multiple regression analyses examined factors related to increases in social interactions. Predictors were ASD status of child and age of child. Results indicated the Buddy Game increased overall social interactions and that social interactions were influenced more by ASD status than age. Implications for practitioners are highlighted.

Brief Report: Relationship Between ADOS-2, Module 4 Calibrated Severity Scores (CSS) and Social and Non-Social Standardized Assessment Measures in Adult Males with Autism Spectrum Disorder (ASD).

The ADOS-2 Modules 1-3 now include a standardized calibrated severity score (CSS) from 1 to 10 based on the overall total raw score. Subsequent research published CSS for Module 4 (Hus, Lord, Journal of Autism and Developmental Disorders 44(8):1996-2012, 2014); however more research is needed to examine the psychometric properties of this CSS. Forty males with ASD completed an assessment battery consisting of ADOS-2 Module 4 and other clinical measures assessing core ASD symptomology and comorbidity. Pearson correlation analyses found that CSS did not correlate with measures that assessed core social deficits of ASD or general psychiatric co-morbidity, but CSS did correlate negatively with intellectual quotient. These findings provide information on the limitations and relevance of CSS to be taken into account in future clinical evaluations of ASD.

Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome.

22q11.2 deletion syndrome (22q11.2DS) is a genomic disorder reported to associate with autism spectrum disorders (ASDs) in 15-50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD diagnoses. Such wide variability in findings may arise in part due to methodological differences across studies. Our study sought to determine whether individuals with 22q11.2DS meet strict ASD diagnostic criteria using research-based guidelines from the Collaborative Programs of Excellence in Autism (CPEA), which required a gathering of information from three sources: the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observational Schedule (ADOS), and a clinician's best-estimate diagnosis. Our study examined a cohort of children, adolescents, and young adults (n = 56) with 22q11.2DS, who were ascertained irrespective of parents' behavioral or developmental concerns, and found that 17.9% (n = 10) of the participants met CPEA criteria for an ASD diagnosis, and that a majority showed some level of social-communication impairment or the presence of repetitive behaviors. We conclude that strictly defined ASDs occur in a substantial proportion of individuals with 22q11.2DS, and recommend that all individuals with 22q11.2DS be screened for ASDs during early childhood.

Racial/ethnic disparities in the identification of children with autism spectrum disorders.

OBJECTIVES: We sought to examine racial and ethnic disparities in the recognition of autism spectrum disorders (ASDs). METHODS: Within a multisite network, 2568 children aged 8 years were identified as meeting surveillance criteria for ASD through abstraction of evaluation records from multiple sources. Through logistic regression with random effects for site, we estimated the association between race/ethnicity and documented ASD, adjusting for gender, IQ, birthweight, and maternal education. RESULTS: Fifty-eight percent of children had a documented autism spectrum disorder. In adjusted analyses, children who were Black (odds ratio [OR] = 0.79; 95% confidence interval [CI] = 0.64, 0.96), Hispanic (OR = 0.76; CI = 0.56, 0.99), or of other race/ethnicity (OR = 0.65; CI = 0.43, 0.97) were less likely than were White children to have a documented ASD. This disparity persisted for Black children, regardless of IQ, and was concentrated for children of other ethnicities when IQ was lower than 70. CONCLUSIONS: Significant racial/ethnic disparities exist in the recognition of ASD. For some children in some racial/ethnic groups, the presence of intellectual disability may affect professionals' further assessment of developmental delay. Our findings suggest the need for continued professional education related to the heterogeneity of the presentation of ASD.

Autism treatment survey: services received by children with autism spectrum disorders in public school classrooms.

The Autism Treatment Survey was developed to identify strategies used in education of children with autism spectrum disorders (ASD) in Georgia. Respondents of the web-based survey included a representative sample of 185 teachers across the state, reporting on 226 children with ASD in grades preschool-12th. The top five strategies being used in Georgia (Gentle Teaching, sensory integration, cognitive behavioral modification, assistive technology, and Social Stories) are recognized as lacking a scientific basis for implementation. Analysis revealed the choice of strategies varied by grade level and classroom type (e.g., general education, special education). Results highlight clear implications for preservice and inservice educator training, and the need for continued research to document evidence-based strategy use in public schools for students with ASD.