Accuracy of Autism Screening in a Large Pediatric Network

Guthrie, W. Spencer; Wallis, Kate; Bennett, Amanda; Brooks, Elizabeth S.; Dudley, Jesse; Gerdes, Marsha; Pandey, Juhi; Levy, Susan E.; Schultz, Robert T.; Miller, Judith S.

doi:10.1542/peds.2018-3963

Cited by 190 publications

(230 citation statements)

References 27 publications

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“…Factors hindering population-wide uptake of early detection and intervention can be traced to a wide range of implementation challenges, such as lack of cost-effective and accurate screening tools, challenging time requirements and lack of cost coverage in primary care settings, limited funding for and integration of family supports, among others (Daniels & Mandell, 2014; Guthrie et al, 2019; Honigfeld, Chandhok, & Spiegelman, 2012). Solutions for each of these obstacles will advance implementation of early detection and intervention, but they will not counter an obstacle of a different kind— a perceptual barrier , a prevailing view of ASD, held by many scientists, providers, and policy makers alike, which undermines any discourse advancing the potential benefits of early treatment.…”

Section: Perceptual Barriers To Early Identification and Treatment Ofmentioning

confidence: 99%

Affording autism an early brain development re-definition

et al. 2020

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The national priority to advance early detection and intervention for children with autism spectrum disorder (ASD) has not reduced the late age of ASD diagnosis in the US over several consecutive Centers for Disease Control and Prevention (CDC) surveillance cohorts, with traditionally under-served populations accessing diagnosis later still. In this review, we explore a potential perceptual barrier to this enterprise which views ASD in terms that are contradicted by current science, and which may have its origins in the current definition of the condition and in its historical associations. To address this perceptual barrier, we propose a re-definition of ASD in early brain development terms, with a view to revisit the world of opportunities afforded by current science to optimize children's outcomes despite the risks that they are born with. This view is presented here to counter outdated notions that potentially devastating disability is determined the moment a child is born, and that these burdens are inevitable, with opportunities for improvement being constrained to only alleviation of symptoms or limited improvements in adaptive skills. The impetus for this piece is the concern that such views of complex neurodevelopmental conditions, such as ASD, can become self-fulfilling science and policy, in ways that are diametrically opposed to what we currently know, and are learning every day, of how genetic risk becomes, or not, instantiated as lifetime disabilities.

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Section: Perceptual Barriers To Early Identification and Treatment Ofmentioning

confidence: 99%

Affording autism an early brain development re-definition

et al. 2020

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“…al., 2014), Sri Lanka (Perera, Wijewardena, & Aluthwelage, 2009) and Japan (Kamio et al, 2014) for instance, reported low sensitivity. Studies using the Modified Checklist for Autism in Toddlers (MCHAT) in low socioeconomic or ethnically diverse settings within the USA, reported high false positive rates (Khowaja, Hazzard, & Robins, 2015;Scarpa et al, 2013) or low specificity and low positive predictive values in children of colour and children from lower-income households (Guthrie et al, 2019). A study using the Autism Diagnostic Interview-Revised (ADI-R) reported lower sensitivity and specificity on specific domains in Spanish speaking populations in the USA (Vanegas, Magaña, Morales, & McNamara, 2016).…”

Section: Introductionmentioning

confidence: 99%

A Conceptual Framework for Understanding the Cultural and Contextual Factors on Autism Across the Globe

2020

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Autism research is heavily skewed towards western high-income countries. Culturally appropriate screening and diagnostic instruments for autism are lacking in most low-and middle-income settings where the majority of the global autism population lives. To date, a clear overview of the possible cultural and contextual factors that may affect the process of identifying and diagnosing individuals with ASD is missing. This study aims to outline these factors by proposing a conceptual framework. A multidisciplinary review approach was applied to inform the development of the conceptual framework, combining a systematic review of the relevant autism research literature with a wider literature search spanning key texts in global mental health, cultural psychiatry, cross-cultural psychology and intellectual disability research. The resulting conceptual framework considers the identification, helpseeking and diagnostic process at four interrelated levels: i) the expression, ii) recognition, iii) interpretation and iv) reporting of autism symptoms, and describes the cultural and contextual factors associated with each of these levels, including cultural norms of typical and atypical behaviour, culture-specific approaches to parenting, mental health literacy, cultural beliefs, attitudes and stigma, as well as the affordability, availability, accessibility and acceptability of services. This framework, mapping out the cultural and contextual factors that can affect the identification, help-seeking and diagnosis of ASD, may function as a springboard for the development of culturally appropriate autism screening and diagnostic instruments, and inform future cross-cultural autism research directions. The framework also has relevance for clinicians and policy makers aiming to improve support for underserved autism populations worldwide. Lay summaryThe vast majority of autism research is conducted in western high-income settings. We therefore know relatively little of how culture and context can affect the identification, helpseeking and diagnosis of autism across the globe. This paper synthesises what is known from the autism research literature and a broader literature and maps out how culture and context may affect i) the expression, ii) recognition, iii) interpretation and iv) reporting of autism symptoms.

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“…While parental questioning is widely used as a screen for ASD, a number of studies have indicated that this strategy is not optimal [Monteiro et al, 2019;Zwaigenbaum & Maguire, 2019]. The Modified Checklist for Autism in Toddlers with Follow-Up (M-CHAT/F), for example, is reported to have a sensitivity of only 38.8% and a positive predictive value of 14.6% [Guthrie et al, 2019]. Thus, this widely used screening tool detects less than 40% of children who will go on to attain a diagnosis of ASD, and less than 15% of the children who are positive on the test actually end up with a diagnosis of ASD.…”

Section: Introductionmentioning

confidence: 99%

A Metabolomics Approach to Screening for Autism Risk in the Children's Autism Metabolome Project

et al. 2020

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Autism spectrum disorder (ASD) is biologically and behaviorally heterogeneous. Delayed diagnosis of ASD is common and problematic. The complexity of ASD and the low sensitivity of available screening tools are key factors in delayed diagnosis. Identification of biomarkers that reduce complexity through stratification into reliable subpopulations can assist in earlier diagnosis, provide insight into the biology of ASD, and potentially suggest targeted interventions. Quantitative metabolomic analysis was performed on plasma samples from 708 fasting children, aged 18 to 48 months, enrolled in the Children's Autism Metabolome Project (CAMP). The primary goal was to identify alterations in metabolism helpful in stratifying ASD subjects into subpopulations with shared metabolic phenotypes (i.e., metabotypes). Metabotypes associated with ASD were identified in a discovery set of 357 subjects. The reproducibility of the metabotypes was validated in an independent replication set of 351 CAMP subjects. Thirty‐four candidate metabotypes that differentiated subsets of ASD from typically developing participants were identified with sensitivity of at least 5% and specificity greater than 95%. The 34 metabotypes formed six metabolic clusters based on ratios of either lactate or pyruvate, succinate, glycine, ornithine, 4‐hydroxyproline, or α‐ketoglutarate with other metabolites. Optimization of a subset of new and previously defined metabotypes into a screening battery resulted in 53% sensitivity (95% confidence interval [CI], 48%–57%) and 91% specificity (95% CI, 86%–94%). Thus, our metabolomic screening tool detects more than 50% of the autistic participants in the CAMP study. Further development of this metabolomic screening approach may facilitate earlier referral and diagnosis of ASD and, ultimately, more targeted treatments. Lay Summary Analysis of a selected set of metabolites in blood samples from children with autism and typically developing children identified reproducible differences in the metabolism of about half of the children with autism. Testing for these differences in blood samples can be used to help screen children as young as 18 months for risk of autism that, in turn, can facilitate earlier diagnoses. In addition, differences may lead to biological insights that produce more precise treatment options. We are exploring other blood‐based molecules to determine if still a higher percentage of children with autism can be detected using this strategy. Autism Res 2020, 13: 1270–1285. © 2020 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals LLC.

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Accuracy of Autism Screening in a Large Pediatric Network

Cited by 190 publications

References 27 publications

Affording autism an early brain development re-definition

Affording autism an early brain development re-definition

A Conceptual Framework for Understanding the Cultural and Contextual Factors on Autism Across the Globe

A Metabolomics Approach to Screening for Autism Risk in the Children's Autism Metabolome Project

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