Accuracy of Phenotyping of Autistic Children Based on Internet Implemented Parent Report

Department of Human Genetics, University of California-Los Angeles, 695 Charles E. Young Dr. South, Los Angeles, CA 90095, USA.
American Journal of Medical Genetics Part B Neuropsychiatric Genetics (Impact Factor: 3.42). 09/2010; 153B(6):1119-26. DOI: 10.1002/ajmg.b.31103
Source: PubMed


While strong familial evidence supports a substantial genetic contribution to the etiology of autism spectrum disorders (ASD), specific genetic abnormalities have been identified in only a small minority of all cases. In order to comprehensively delineate the genetic components of autism including the identification of rare and common variants, overall sample sizes an order of magnitude larger than those currently under study are critically needed. This will require rapid and scalable subject assessment paradigms that obviate clinic-based time-intensive behavioral phenotyping, which is a rate-limiting step. Here, we test the accuracy of a web-based approach to autism phenotyping implemented within the Interactive Autism Network (IAN). Families who were registered with the IAN and resided near one of the three study sites were eligible for the study. One hundred seven children ascertained from this pool who were verbal, age 4-17 years, and had Social Communication Questionnaire (SCQ) scores > or =12 (a profile that characterizes a majority of ASD-affected children in IAN) underwent a clinical confirmation battery. One hundred five of the 107 children were ASD positive (98%) by clinician's best estimate. One hundred four of these individuals (99%) were ASD positive by developmental history using the Autism Diagnostic Interview-Revised (ADI-R) and 97 (93%) were positive for ASD by developmental history and direct observational assessment (Autism Diagnostic Observational Schedule or expert clinician observation). These data support the reliability and feasibility of the IAN-implemented parent-report paradigms for the ascertainment of clinical ASD for large-scale genetic research.

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    • "Because the study was conducted using an online volunteer register it was not possible to verify whether subjects met ASC diagnostic criteria. However, it has been reported that diagnoses in online volunteers are generally reliable (Lee et al., 2010). Furthermore , online data collection enabled the collection of data from a large number of respondents from a representative sample. "
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    ABSTRACT: The search for genes involved in autism spectrum conditions (ASC) may have been hindered by the assumption that the different symptoms that define the condition can be attributed to the same causal mechanism. Instead the social and nonsocial aspects of ASC may have distinct causes at genetic, cognitive, and neural levels. It has been posited that the core features of ASC can be explained by a deficit in empathizing alongside intact or superior systemizing; the drive to understand and derive rules about a system. First-degree relatives also show some mild manifestations that parallel the defining features of ASC, termed the broader autism phenotype. Factor analyses were conducted to assess whether the latent structure of empathizing, systemizing, and autistic traits differs across samples with a high (individuals on the spectrum), medium (first-degree relatives) or low (general population controls) genetic vulnerability to autism. Results highlighted a two-factor model, confirming an empathizing and a systemizing factor. The relationship between these two factors was significantly stronger in first-degree relatives and the autism group compared with controls. The same model provided the best fit among the three groups, suggesting a similar latent structure irrespective of genetic vulnerability. However, results also suggest that although these traits are relatively independent in the general population, they are substantially correlated in individuals with ASC and their parents. This implies that there is substantially more overlap between systemizing and empathizing among individuals with an increased genetic liability to autism. This has potential implications for the genetic, environmental, and cognitive explanations of autism spectrum conditions. (PsycINFO Database Record (c) 2013 APA, all rights reserved).
    Journal of Abnormal Psychology 05/2013; 122(2):600-609. DOI:10.1037/a0031919 · 4.86 Impact Factor
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    • "Recent efforts are under way to overcome this challenge by designing rapid and reliable assessment paradigms that would obviate clinic-based, time-intensive and high-cost behavioral assessments. Lee et al. (2010) report on the reliability and validity of an Internetbased Interactive Autism Network (IAN)-implemented parent survey involving assessments of verbal children ages 4-17 with an existing diagnosis of ASD. Although there were several caveats that weaken the generalizability of this study's results, statistical analysis of accuracy of an Internet – based parental report within families participating in an ASD-specific autism registry suggested that it has a high concordance rate with clinic-based best practice assessments (ADI-R and ADOS). "

    Handbook of Technology in Psychology, Psychiatry and Neurology: Theory, Research, and Practice, Edited by Luciano L'Abate, David. A. Kaiser, 08/2012: pages 155-177; Nova Science Publishers, Inc.., ISBN: ISBN 978-1-62100-004-4
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    • "With regard to specificity, Constantino et al. (2007) found that a t-score of [60 on the SRS teacher report was consistent with a clinically identified ASD diagnosis in 90% of cases. Lee et al. (2010) examined the utility of the SRS parent and teacher forms in an assessment battery for ASD. They observed very high positive predictive value for the SRS teacher form, but relatively low sensitivity compared to the SRS parent form. "
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    ABSTRACT: Limited research exists regarding the role of teachers in screening for Autism Spectrum Disorders (ASD). The current study examined the use of the Social Communication Questionnaire (SCQ) and Social Responsiveness Scale (SRS) as completed by parents and teachers about school-age children from the Simons Simplex Collection. Using the recommended cutoff scores in the manuals and extant literature, the teacher-completed SCQ and SRS yielded lower sensitivity and specificity values than would be desirable; however, lowering the cutoff scores on both instruments improved sensitivity and specificity to more adequate levels for screening purposes. Using the adjusted cutoff scores, the SRS teacher form appears to be a slightly better screener than the SCQ. Implications and limitations are discussed, as well as areas for future research.
    Journal of Autism and Developmental Disorders 12/2011; 42(8):1705-16. DOI:10.1007/s10803-011-1412-9 · 3.06 Impact Factor
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