Autism Spectrum Disorder Screening Research Articles

Early childhood educators’ knowledge and attitudes about developmental screening for Autism Spectrum Disorder

ABSTRACT The importance of early intervention for developmental disabilities, such as Autism Spectrum Disorder, is increasingly recognized as critical to children’s later success, making it necessary to better understand how professionals who work regularly with young children view the use of developmental screening in their professional practice. This study examined knowledge and attitudes toward developmental screening practices among 130 early childcare and education providers. Survey methodology was used to collect and analyze information on providers’ perceptions of administering developmental screening, barriers to using screening in early childhood education settings, and differences in perceived barriers among providers with varying knowledge of autism spectrum disorder. Providers reported little knowledge of common screening tools but a willingness to use these tools if trained to do so. Ratings of perceived barriers to screening aligned with the behavior intentions and perceived behavioral control constructs of the Theory of Planned Behavior, illustrating reasons why providers may or may not view screening as feasible in their respective settings. Knowledge of Autism Spectrum Disorder was not related to perceived barriers to screening, suggesting that other factors need to be considered when designing early childhood screening programs. These and other implications are discussed in relation to future research and practice.

Tackling healthcare access barriers for individuals with autism from diagnosis to adulthood.

Most individuals with autism spectrum disorder (ASD)—a complex, life-long developmental disorder—do not have access to the care required to address their diverse health needs. Here, we review: (1) common barriers to healthcare access (shortage/cost of services; physician awareness; stigma); (2) barriers encountered primarily during childhood (limited screening/diagnosis; unclear referral pathways), transition to adulthood (insufficient healthcare transition services; suboptimal physician awareness of healthcare needs) and adulthood (shortage of services/limited insurance; communication difficulties with physicians; limited awareness of healthcare needs of aging adults); and (3) advances in research/program development for better healthcare access. A robust understanding of barriers to accessing healthcare across the lifespan of autistic individuals is critical to ensuring the best use of healthcare resources to improve social, physical, and mental health outcomes. Stakeholders must strengthen healthcare service provision by coming together to: better understand healthcare needs of underserved populations; strengthen medical training on care of autistic individuals; increase public awareness of ASD; promote research into/uptake of tools for ASD screening, diagnosis, and treatment; understand specific healthcare needs of autistic individuals in lower resource countries; and conduct longitudinal studies to understand the lifetime health, social, and economic impacts of ASD and enable the evaluation of novel approaches to increasing healthcare access.Impact Despite the growing body of evidence, our understanding of barriers to healthcare encountered by individuals with ASD remains limited, particularly beyond childhood and in lower resource countries.We describe current and emerging barriers to healthcare access encountered by individuals with ASD across the lifespan.We recommend that stakeholders develop evidence-informed policies, programs, and technologies that address barriers to healthcare access for individuals with ASD and consider broad, equitable implementation to maximize impact.

A Taxonomy of Reported Harms in Pediatric Autism Spectrum Disorder Screening: Provider and Parent Perspectives.

The U.S. Preventive Services Task Force (USPSTF) report on screening for Autism Spectrum Disorder (ASD) highlighted the need for research that examines the harms potentially associated with screening so as to assess the overall net benefit of universal screening. In response, this study engages qualitative, semi-structured interviews to generate a taxonomy outlining potential harms reported by parents and providers (pediatricians and Early Intervention providers) with experience in screening young children for ASD. Potential harms emerged including: physical, psychological, social, logistical/financial, opportunity cost, attrition, and exacerbation of non-targeted disparities. Respondents reported harms being experienced by the toddlers, parents, and providers. The harms reported highlight opportunities for providers to offer resources that mitigate the potential for these unintended consequences.

Early and Repeated Screening Detects Autism Spectrum Disorder

To evaluate timing and accuracy of early and repeated screening for autism spectrum disorder (ASD) during well-child visits. Using a longitudinal study design, toddlers (n=5784) were initially screened at 12 (n=1504), 15 (n=1228), or 18 (n=3052) months during well-child visits, and rescreened at 18, 24, and 36months. Of those screened, 368 toddlers attended an ASD evaluation after a positive screen and/or a provider concern for ASD at any visit. Screens initiated at 12months yielded an ASD diagnosis significantly earlier than at 15months (P=.003, d=0.99) and 18months (P<.001, d=0.97). Cross-group overall sensitivity of the initial screen was .715 and specificity was .959. Repeat screening improves sensitivity (82.1%), without notably decreasing specificity (all >93.5%). Screening at 18months resulted in significantly higher positive predictive value than at 12months (X2 (1, n = 221)=9.87, P=.002, OR=2.60) and 15months (X2 (1, n=208)=14.57, P<.001, OR=3.67). With repeat screening, positive predictive value increased for all screen groups, but the increase was not significant. Screening as early as 12months effectively identifies many children at risk for ASD. Children screened at 12months receive a diagnosis of ASD significantly earlier than peers who are first screened at later ages, facilitating earlier intervention. However, as the sensitivity is lower for a single screen, screening needs to be repeated.

Evidence-based use of scalable biomarkers to increase diagnostic efficiency and decrease the lifetime costs of autism.

Challenges associated with the current screening and diagnostic process for autism spectrum disorder (ASD) in the US cause a significant delay in the initiation of evidence‐based interventions at an early age when treatments are most effective. The present study shows how implementing a second‐order diagnostic measure to high risk cases initially flagged positive from screening tools can further inform clinical judgment and substantially improve early identification. We use two example measures for the purposes of this demonstration; a saliva test and eye‐tracking technology, both scalable and easy‐to‐implement biomarkers recently introduced in ASD research. Results of the current cost‐savings analysis indicate that lifetime societal cost savings in special education, medical and residential care are estimated to be nearly $580,000 per ASD child, with annual cost savings in education exceeding $13.3 billion, and annual cost savings in medical and residential care exceeding $23.8 billion (of these, nearly $11.2 billion are attributable to Medicaid). These savings total more than $37 billion/year in societal savings in the US. Initiating appropriate interventions faster and reducing the number of unnecessary diagnostic evaluations can decrease the lifetime costs of ASD to society. We demonstrate the value of implementing a scalable highly accurate diagnostic in terms of cost savings to the US.Lay SummaryThis paper demonstrates how biomarkers with high accuracy for detecting autism spectrum disorder (ASD) could be used to increase the efficiency of early diagnosis. Results also show that, if more children with ASD are identified early and referred for early intervention services, the system would realize substantial costs savings across the lifespan.

Associations Among Referral Concerns, Screening Results, and Diagnostic Outcomes of Young Children Assessed in a Statewide Early Autism Evaluation Network

To examine associations between referral concerns, screening results, and diagnostic outcomes for young children evaluated across a statewide primary care network for early screening and diagnosis of autism spectrum disorder (ASD). The Early Autism Evaluation Hub system was developed to increase developmental screening and improve access to timely ASD evaluations in local communities. In 2019, 858 children (ages 18-48months; 40% diagnosed with ASD) received ASD evaluations across 12 Early Autism Evaluation Hubs. Data on primary care provider (PCP)- and caregiver-reported referral concerns, Modified Checklist for Autism in Toddlers, Revised with Follow-Up (MCHAT-R/F) and Ages and Stages Questionnaire, Third Edition (ASQ-3), and diagnostic outcome were collected. Among children evaluated, there was low concordance between PCP and caregiver referral concern. Although a positive MCHAT-R/F screen was associated with PCP but not caregiver-reported ASD referral concern, there was a significant linear relationship between MCHAT-R/F raw scores and both PCP and caregiver ASD referral concern. A different pattern of ASQ-3 delays was found to be associated with PCP-reported as compared with caregiver-reported ASD referral concern. Finally, PCP-reported ASD referral concern, positive MCHAT-R/F, and ASQ-3 Communication and Personal Social delays were associated with a significantly higher likelihood of subsequent ASD diagnosis. Understanding how community PCPs use surveillance and screening data, the extent to which PCPs and caregivers have shared understanding and engage in collaborative decision-making about evaluation referral, and how these factors relate to diagnostic outcomes has the potential to impact educational efforts for both PCPs and caregivers of young children, as well as inform the development of more efficacious early identification approaches.

Screening for Autism Spectrum Disorder

Screening for Autism Spectrum Disorder

Examining the correlation between symptoms of obsessive compulsive disorder and autism spectrum disorder in a community-based sample of adults

We examined the association between obsessive compulsive disorder (OCD) and autism spectrum disorder (ASD) symptoms among a community-based sample of adults (n = 217) that completed an OCD and ASD screening instrument. Approximately 39% of the sample that met the ASD screener cutoff criteria also met the screener cutoff criteria for OCD. The correlation between overall OCD symptoms (i.e., obsessions and compulsions) and ASD symptoms was small but statistically significant for the entire sample of participants. Similarly, obsession and compulsion subscales showed almost identical results for correlation with ASD symptoms (i.e., small but statistically significant) for the entire sample. These results suggest that levels of compulsions and obsessions are equally correlated with ASD symptoms, and neither elevated compulsions nor obsessions differentially predicted the severity of ASD symptoms in a community-based sample of adults. However, when the analysis was restricted to only the participants that met screening criteria cutoff score for ASD, statistically significant results occurred with only elevated compulsions accurately predicting severity of ASD symptoms. These results suggest that compulsive behavior appears to be a good candidate for targeting intervention resources for individuals with characteristics of ASD given the mounting data suggesting that compulsions are more common than obsessions.

Patient-Derived Induced Pluripotent Stem Cells (iPSCs) and Cerebral Organoids for Drug Screening and Development in Autism Spectrum Disorder: Opportunities and Challenges.

Autism spectrum disorder (ASD) represents a group of neurodevelopmental diseases characterized by persistent deficits in social communication, interaction, and repetitive patterns of behaviors, interests, and activities. The etiopathogenesis is multifactorial with complex interactions between genetic and environmental factors. The clinical heterogeneity and complex etiology of this pediatric disorder have limited the development of pharmacological therapies. The major limit to ASD research remains a lack of relevant human disease models which can faithfully recapitulate key features of the human pathology and represent its genetic heterogeneity. Recent advances in induced pluripotent stem cells (iPSCs), reprogrammed from somatic cells of patients into all types of patient-specific neural cells, have provided a promising cellular tool for disease modeling and development of novel drug treatments. The iPSCs technology allowed not only a better investigation of the disease etiopathogenesis but also opened up the potential for personalized therapies and offered new opportunities for drug discovery, pharmacological screening, and toxicity assessment. Moreover, iPSCs can be differentiated and organized into three-dimensional (3D) organoids, providing a model which mimics the complexity of the brain’s architecture and more accurately recapitulates tissue- and organ-level disease pathophysiology. The aims of this review were to describe the current state of the art of the use of human patient-derived iPSCs and brain organoids in modeling ASD and developing novel therapeutic strategies and to discuss the opportunities and major challenges in this rapidly moving field.

Evaluation of sex differences in preschool children with and without autism spectrum disorder enrolled in the study to explore early development

Background and aimsResearch in school-aged children, adolescents, and adults with autism spectrum disorder (ASD) has found sex-based differences in behavioral, developmental, and diagnostic outcomes. These findings have not been consistently replicated in preschool-aged children. We examined sex-based differences in a large sample of 2–5-year-old children with ASD symptoms in a multi-site community-based study. Methods and proceduresBased on a comprehensive evaluation, children were classified as having ASD (n = 1480, 81.55 % male) or subthreshold ASD characteristics (n = 593, 70.15 % male). Outcomes were behavior problems, developmental abilities, performance on ASD screening and diagnostic tests, and parent-reported developmental conditions diagnosed before study enrollment. Outcomes and resultsWe found no statistically significant sex differences in behavioral functioning, developmental functioning, performance on an ASD screening test, and developmental conditions diagnosed before study enrollment among children with ASD or subthreshold ASD characteristics. Males in both study groups had more parent reported restricted interests and repetitive behaviors than females, but these differences were small in magnitude and not clinically meaningful. Conclusions and implicationsPreschool males and females who showed risk for ASD were more similar than different in the outcomes assessed in our study. Future research could examine sex-based differences in ASD phenotypes as children age.

Artificial Intelligence: the "Trait D'Union" in Different Analysis Approaches of Autism Spectrum Disorder Studies.

Autistic Spectrum Disorder (ASD) is a neurodevelopmental condition affecting approximately 1 out of 70 (range 1:59 - 1:89) children worldwide. It is characterized by a delay in cognitive capabilities, repetitive and restricted behaviors and deficit in communication and social interaction. Several factors seem to be associated with ASD development; its heterogeneous nature makes the diagnosis difficult and slow since it is essentially based on screening tools focused on stereotypical and repetitive behaviors, gait, facial emotion expression and speech assessments. Recently, artificial intelligence (AI) has been widely used to investigate ASD with the overall goal of simplifying and speeding up the diagnostic process as well as making earlier access to therapies possible. The aim of this review is to provide an overview of the state-of-the-art research in the ASD field, identifying and describing machine learning (ML) approaches in ASD literature that could be used by clinicians to improve diagnostic capability and treatment efficiency. A systematic search was conducted and the resulting articles were subdivided into several categories reflecting the different fields of study associated with ASD research. The existing literature has widely demonstrated the potential of ML in several types of ASD study analyses: behavior, gait, speech, facial emotion expression, neuroimaging, genetics, and metabolomics. Therefore, AI techniques are becoming increasingly implemented and accepted, so highlighting the power of ML approaches to extract and obtain knowledge from a large volume of data. This makes ML a promising tool for future ASD research and clinical endeavors suggesting possible avenues for improving ASD screening, diagnostic and therapeutic tools.

Information and Communication Technologies to Support Early Screening of Autism Spectrum Disorder: A Systematic Review.

The aim of this systematic review is to identify recent digital technologies used to detect early signs of autism spectrum disorder (ASD) in preschool children (i.e., up to six years of age). A systematic literature search was performed for English language articles and conference papers indexed in Pubmed, PsycInfo, ERIC, CINAHL, WoS, IEEE, and ACM digital libraries up until January 2020. A follow-up search was conducted to cover the literature published until December 2020 for the usefulness and interest in this area of research during the Covid-19 emergency. In total, 2427 articles were initially retrieved from databases search. Additional 481 articles were retrieved from follow-up search. Finally, 28 articles met the inclusion criteria and were included in the review. The studies included involved four main interface modalities: Natural User Interface (e.g., eye trackers), PC or mobile, Wearable, and Robotics. Most of the papers included (n = 20) involved the use of Level 1 screening tools. Notwithstanding the variability of the solutions identified, psychometric information points to considering available technologies as promising supports in clinical practice to detect early sign of ASD in young children. Further research is needed to understand the acceptability and increase use rates of technology-based screenings in clinical settings.

Developmental Signs of Autism Spectrum Disorder in Iranian Pre-Schoolers

PurposeEarly identification and intervention is recommended for developmental disabilities such as autism spectrum disorders (ASD). Various screening tools are available, but most were developed in affluent English speaking countries. Design and methodsIn order to identify possible early signs of ASD within Iranian society, parents of 623 children in an age range from 3 to 7 years of age at risk of ASD, were interviewed about the signs that alerted their concerns. Also two screening instruments were developed and tested with the parents using items derived from the Gilliam Autism Rating Scale (GARS2). One focused on autistic behaviors and the second on developmental indicators. ResultsUsing both tools, 93% of the children who were identified as likely to have ASD based on a full GARS assessment were identified using the two screening tools. Practice implicationsThese assessments might be used in initial screening for ASD by early year's personnel or public health professionals with Iranian parents of toddlers who have concerns about their child's development.

Causes and consequences of delayed diagnosis of autism spectrum disorder in forensic practice: a case series

Purpose The purpose of this paper is to highlight the difficulties in identifying adults with autism spectrum disorder (ASD) and to illustrate the consequences of late diagnoses in forensic settings. Design/methodology/approach This paper presents an overview of the literature relevant to the topic and presents the details of three clinical cases. Findings Delayed diagnosis is not uncommon in forensic services. Cases may remain unidentified for considerable periods despite being under evaluation from clinical teams. Diagnosis in forensic settings is challenged by case complexity. Barriers to prompt diagnosis include time, resources and clinical competency. Timely diagnosis may lessen the risk of future offences, improves clinical risk management and can bring direct benefits to those with the condition. Originality/value This is the first case series which explores the issue of late diagnosis in forensic settings. The illustration of the extent to which a diagnosis can be missed may prompt clinicians to review and identify missed cases. The discussion of the issue may also support services to review their approach to screening and diagnosis of ASD.

Considerations about the implementation of an autism screening program in Iran from the viewpoints of professionals and parents: a qualitative study

BackgroundThe aims of this study were to explore to explore the viewpoints of parents of children with Autism Spectrum Disorders (ASD) and professionals regarding the implementation of screening programs for ASD, to explore the challenges of the implementation of a universal screening program for ASD in Iran from their viewpoints, and, to explore their recommendations to overcome the potential challenges.MethodThis qualitative study was conducted using an inductive content analysis, between June 2018 and December 2018, in East-Azerbaijan province of Iran. Data was collected through in-depth interviews and focus group discussions. The participants were purposively selected among two groups: representatives of health system and representatives of children with ASD. A sample of 32 parents and 30 professionals were recruited in this study.ResultsTotally, 9 main themes and 23 sub-themes were extracted in three main areas including: viewpoints of the participants about universal screening for ASD, challenges in implementation of the universal screening program, and participants’ recommendations about how to overcome the potential challenges. Main challenges in implementation of the universal screening program included: shortages of ASD screening tools, weakness of the health system, lack of coordination among the ASD service providers, and social and ethical issues.ConclusionThe parents and the professionals had different viewpoints about the implementation of ASD universal screening program in Iran. According to the professionals, there is not enough rational to implement ASD screening program for all children. However, the parents believed that universal screening program is inevitable, and it should be implemented in primary health centers during the early child-care visits. The results of this study open up unspoken issues that could help in initiating the screening program not only in Iran but also in other low- and middle-income countries as well.

Machine Learning Application for Predicting Autistic Traits in Toddlers

Preliminary diagnosis of medical conditions, such as autism spectrum disorder (ASD), requires an understanding of the influential traits, for example autistic traits, during the screening process. Therefore, selecting the right attributes is a critical part of model construction in medical applications such as ASD screening, as this directly impacts the accuracy and efficiency of classification. This research investigates different methods for selecting attributes, including Chi-square (CHI), correlation feature set, information gain, Gini index and fast correlated-based filter to identify highly impactful autistic traits using over 1000 data observations of cases and controls related to toddlers. We seek to find the common autistic traits that influence the pre-diagnosis process for ASD obtained by these attribute selection methods from a real autism dataset related to toddlers and their impact on the performance of the screening process. To achieve the aim, an empirical methodology involving the use of three classification algorithms, AdaBoost, k-Nearest Neighbour (kNN) and ID3, has been used to derive models from the various different datasets chosen prior to training according to the considered attribute selection methods. These models are evaluated using evaluation metrics including specificity, sensitivity, accuracy and area under curve. Empirical results using the classification techniques for different attribute sets for the toddlers’ dataset show which influential autistic traits can be utilized by clinicians and diagnosticians to speed up the pre-diagnosis process for ASD and to enhance classification performance. More importantly, we show which attribute selection methods identify the relevant attributes that influence the preliminary process for diagnosis.

Many Young Children with Autism Who Use Psychotropic Medication Do Not Receive Behavior Therapy: A Multisite Case-Control Study

To explore how many pre-school aged children with autism spectrum disorder (ASD) used psychotropic medication, child and geographic factors associated with psychotropic medication use, and how many children who used psychotropic medication did or did not ever receive behavior therapy. Children 2-5years of age were enrolled from 2012 to 2016 in a multisite case-control study designed to investigate the development and risk factors of ASD. Children with a positive ASD screen or ASD diagnosis upon enrollment were asked to complete a comprehensive evaluation to determine ASD status and developmental level. Caregivers completed a Services and Treatments Questionnaire and multiple self-administered questionnaires to determine child use of psychotropic medication, ever receipt of behavior therapy, and presence of co-occurring symptoms. There were 763 children who were classified as ASD and had data collected on the Services and Treatments Questionnaire. Of those, 62 (8.1%) used psychotropic medication to treat behavioral symptoms and 28 (3.7%) were ≤3years of age when medication was first started. Attention problems (aOR, 7.65; 95% CI, 3.41-16.1; P<.001) and study site (aOR, 2.62; 95% CI, 1.04-6.56; P=.04) were significantly associated with psychotropic medication use after controlling for maternal race/ethnicity. More than one-half (59.7%) of those who used psychotropic medication did not ever receive behavior therapy. Many preschool-aged children with ASD who use psychotropic medication do not receive behavior therapy. Pediatricians are an important resource for children and families and can help facilitate behavioral treatment for children with ASD and other disorders.

Mimicry as a tool for early screening of Autism Spectrum Disorder

This is a theoretical paper in which we address the question of mimicry, one type of imitation behavior, in the first year of life through a phenomenological perspective. We conceptualize imitation in the first year of life with an emphasis on intentionality and argue that there are two types of imitation phenomena in infants: non-intentional and intentional imitation. As a conclusion, we generate the hypothesis as to whether mimicry could be used to the screening of Autism Spectrum Disorders so that it does not rely solely on questionnaires or expensive structured interviews.

Autism Screening: An Important Step Forward but "Miles to Go Before We Sleep".

* Abbreviations: ASD — : autism spectrum disorder DCI — : developmental check-in Contemporary views of disability emphasize how environmental and societal adaptations can empower individuals across the developmental continuum by mitigating barriers to inclusion. The social model of disability1 was informed by the experiences of persons with motor restrictions who felt “isolated and excluded by such things as flights of steps.”2 Less visible but highly impactful are the barriers to access to health and human services experienced by families related to their primary language and ethnicity. Indeed, the current national reckoning with systemic racism has brought into starker focus how such factors create inequities in access to an autism spectrum disorder (ASD) diagnosis.3 Thus, the report by Harris et al4 in this issue of Pediatrics on the developmental check-in (DCI) is timely. Recognizing that current screens may be inadequate for children whose parents have limited proficiency in spoken and written English, particularly for racial and/or ethnic minorities, the authors developed a visually based ASD screening tool designed for 24- to 60-month-olds. The current study extends the validation of the DCI5 to a sample of children participating in Early Head Start … Address correspondence to Lonnie Zwaigenbaum, MD, Msc, Autism Research Center, Glenrose Rehabilitation Hospital, E209, 10230 111th Ave, Edmonton, AB, Canada T5G 0B7. E-mail: lonniez{at}ualberta.ca

Early Identification of Young Children with ASD and Other Developmental Disabilities: Areas for Improvement

There continues to be an ongoing effort in pediatric practice to improve screening and referral rates of children with potential developmental disabilities including Autism Spectrum Disorder (ASD). Successes have been seen in practices relative to broad developmental screening efforts and increasing improvement in screening for ASD. However, gaps continue to occur in screening, referral for further evaluation, and follow-up that allows the practice (and treating provider) to know the outcome of the referral. This type of “closing the loop” between providers and referral sources is necessary for the practice to function as a medical home for the child and family. In addition, caregivers have highlighted many challenges in the early identification process in working with their primary care provider. This manuscript discusses some of the barriers to early identification for children and their families, successful strategies for more consistent screening and closing the loop following referral, and highlights parental perceptions about identification and referral. Further, practical approaches that could be used by pediatric providers are highlighted.