Autism‐Related Variation in Reciprocal Social Behavior: A Longitudinal Study

Wagner, Rachael E; Zhang, Yi; Gray, Teddi; Abbacchi, Anna M.; Cormier, DePorres; Todorov, Alexandre A.; Constantino, John N.

doi:10.1111/cdev.13170

Cited by 37 publications

(48 citation statements)

References 30 publications

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“…Interestingly, one especially well-powered factor analysis of the SRS ( n > 9000; Frazier et al, 2014) provides some support for five RSB subfactors, including a social avoidance domain, which were parsed within an overarching two-factor structure of social communication and autistic mannerisms involving restricted, repetitive interests and behavior. The identification of five separable RSB factors in a substantially smaller toddler population could imply that RSB subdomains are more differentiated in early life and become progressively interrelated, thereby promoting long-term stability of RSB (Wagner et al, 2019) and, relatedly, the clinical autistic syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…Variation in RSB has been measured from preschool age onward using the Social Responsiveness Scale (SRS), a well-validated instrument that indexes quantitative autistic traits in terms of deficiencies of RSB. Population-based studies using the SRS have shown that variation in RSB (i.e., quantitative autistic traits) is continuously distributed throughout the population; corresponds to ASD diagnosis and severity; is highly heritable, sharing genetic factors with ASD; and exhibits trait-like stability from school age into adulthood (Constantino, Hudziak, & Todd, 2003; Constantino & Todd, 2003; Skuse et al, 2009; Wagner et al, 2019). Characterizing the behavioral and genetic architecture of RSB in toddlerhood could thus elucidate diverse developmental pathways preceding the emergence and stabilization of core autistic symptoms.…”

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confidence: 99%

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Genetic architecture of reciprocal social behavior in toddlers: Implications for heterogeneity in the early origins of autism spectrum disorder

et al. 2020

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Impairment in reciprocal social behavior (RSB), an essential component of early social competence, clinically defines autism spectrum disorder (ASD). However, the behavioral and genetic architecture of RSB in toddlerhood, when ASD first emerges, has not been fully characterized. We analyzed data from a quantitative video-referenced rating of RSB (vrRSB) in two toddler samples: a community-based volunteer research registry (n = 1,563) and an ethnically diverse, longitudinal twin sample ascertained from two state birth registries (n = 714). Variation in RSB was continuously distributed, temporally stable, significantly associated with ASD risk at age 18 months, and only modestly explained by sociodemographic and medical factors (r2 = 9.4%). Five latent RSB factors were identified and corresponded to aspects of social communication or restricted repetitive behaviors, the two core ASD symptom domains. Quantitative genetic analyses indicated substantial heritability for all factors at age 24 months (h2 ≥ .61). Genetic influences strongly overlapped across all factors, with a social motivation factor showing evidence of newly-emerging genetic influences between the ages of 18 and 24 months. RSB constitutes a heritable, trait-like competency whose factorial and genetic structure is generalized across diverse populations, demonstrating its role as an early, enduring dimension of inherited variation in human social behavior. Substantially overlapping RSB domains, measurable when core ASD features arise and consolidate, may serve as markers of specific pathways to autism and anchors to inform determinants of autism's heterogeneity.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

Genetic architecture of reciprocal social behavior in toddlers: Implications for heterogeneity in the early origins of autism spectrum disorder

et al. 2020

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“…The SRS‐2 is a validated 65‐item scale for use by caregivers and/or teachers that quantifies observed autistic traits and symptoms over the past 6 months 21,22 . These were completed by either parent, usually the mother.…”

Section: Methodsmentioning

confidence: 99%

Expediting clinician assessment in the diagnosis of autism spectrum disorder

Sanchez

Constantino

2020

Develop Med Child Neuro

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Aim To investigate a novel observational rating protocol designed to expedite clinical diagnosis of autism spectrum disorder (ASD). Method Two hundred and forty patients referred to a tertiary autism center (median age 8y 9mo, range 2y 6mo–34y 8mo; 188 males, 52 females) were rated using an adaptation of the Childhood Autism Rating Scale, Second Edition (CARS‐2) based exclusively on patient observation (CARS‐2obs). Scores were compared to expert diagnosis of ASD, parent‐reported Social Responsiveness Scale, Second Edition (SRS‐2) and, in a selected subset of patients, the Autism Diagnostic Observation Schedule, Second Edition (ADOS‐2). Results CARS‐2obs distinguished patients with a clinical diagnosis of ASD from those with non‐ASD neuropsychiatric disorders (mean score=18 vs 11.7, p<0.001). Severity ratings on the CARS‐2obs correlated with the ADOS‐2 (r=0.68, ρ=0.64) and SRS‐2 (r=0.31, ρ=0.32). A CARS‐2obs cutoff point equal to or greater than 16 demonstrated 95.8% specificity and 62.3% sensitivity in discriminating individuals with ASD from individuals without ASD in a specialty referral setting. Interpretation The CARS‐2obs allows the rapid acquisition of quantitative ratings of autistic severity by direct observation. Coupled with parent/teacher‐reported symptoms and developmental history, the measure may contribute to a low‐cost diagnostic paradigm in clinical and public health settings, where positive results might help reduce delays in diagnosis, and negative results could prompt further specialty assessment. What this paper adds The Childhood Autism Rating Scale, Second Edition based on patient observation distinguished individuals with versus without autism spectrum disorder (ASD). A score equal to or greater than 16 on this assessment showed high specificity for a diagnosis of ASD.

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“…All subjects were quantitatively assessed using the Social Responsiveness Scale-2 (Constantino and Gruber 2012). We were recently able to demonstrate the scale's longterm stability coefficients (on the order of r = 0.65-0.90), in a cohort-sequential study (Wagner et al 2019) tracking quantitative autistic traits from age 3 to 29 years among individuals with and without ASD (N = 602). Clinical twin pairs ascertained from one of this study's two clinical sources were additionally assessed using a standardized diagnostic observation schedule administered by a trained clinician.…”

Section: Introductionmentioning

confidence: 99%

On the Nature of Monozygotic Twin Concordance and Discordance for Autistic Trait Severity: A Quantitative Analysis

et al. 2019

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The characterizing features of autism spectrum disorder (ASD) are continuously distributed in nature; however, prior twin studies have not systematically incorporated this knowledge into estimations of concordance and discordance. We conducted a quantitative analysis of twin-twin similarity for autistic trait severity in three existing data sets involving 366 pairs of uniformly-phenotyped monozygotic (MZ) twins with and without ASD. Probandwise concordance for ASD was 96%; however, MZ trait correlations differed markedly for pairs with ASD trait burden below versus above the threshold for clinical diagnosis, with R 2 s on the order of 0.6 versus 0.1, respectively. Categorical MZ twin discordance for ASD diagnosis is rare and more appropriately operationalized by standardized quantification of twin-twin differences. Here we provide new evidence that although ASD itself is highly heritable, variation-in-severity of symptomatology above the diagnostic threshold is substantially influenced, in contrast, by non-shared environmental factors which may identify novel targets of early ASD amelioration.

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Autism‐Related Variation in Reciprocal Social Behavior: A Longitudinal Study

Cited by 37 publications

References 30 publications

Genetic architecture of reciprocal social behavior in toddlers: Implications for heterogeneity in the early origins of autism spectrum disorder

Genetic architecture of reciprocal social behavior in toddlers: Implications for heterogeneity in the early origins of autism spectrum disorder

Expediting clinician assessment in the diagnosis of autism spectrum disorder

On the Nature of Monozygotic Twin Concordance and Discordance for Autistic Trait Severity: A Quantitative Analysis

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