Examining How Types of Object Distractors Distinctly Compete for Facial Attention in Autism Spectrum Disorder Using Eye Tracking.

Social motivation theory states that individuals with ASD find social stimuli less rewarding (Chevallier et al. in Trends Cognit Sci 16(4):231-239, 2012). An alternative theory suggests that competition from circumscribed interests (CIs) may better account for diminished social attention (Sasson et al. in Autism Res 1(1):31-42, 2008). This study evaluated both theories in children diagnosed with ASD (n = 16) and a group of TD children (n = 20) using eye tracking and demonstrated that distractor type only impacted the proportion of dwell time on faces in the TD group, but not the ASD group. These results provide support for the social motivation theory because gaze duration for faces among children with ASD was diminished regardless of whether the non-social stimuli presented was a CI or control object.

Dimensional assessment of schizotypal, psychotic, and other psychiatric traits in children and their parents: development and validation of the Childhood Oxford-Liverpool Inventory of Feelings and Experiences on a representative US sample.

BACKGROUND: Healthy functioning relies on a variety of perceptual, cognitive, emotional, and behavioral abilities that are distributed throughout the normal population. Variation in these traits define the wide range of neurodevelopmental (NDD) and neuropsychiatric (NPD) disorders. Here, we introduce a new measure for assessing these traits in typically developing children and children at risk for NDD and NPD from age 2 to 18 years. METHOD: The Childhood Oxford-Liverpool Inventory of Feelings and Experiences (CO-LIFE) was created as a dimensional, parent-report measure of schizotypal and psychotic traits in the general population. Parents of 2,786 children also self-reported on an adapted version of the Oxford-Liverpool Inventory of Feelings and Experiences (O-LIFE-US). RESULTS: The CO-LIFE resulted in continuous distributions for the total score and for each of three factor analytically-derived subscales. Item response theory (IRT) analyses indicated strong reliability across the score range for the O-LIFE-US and the CO-LIFE. Internal consistency and test-retest reliability were high across all scales. Parent-child intraclass correlations were consistent with high heritability. The scales discriminated participants who reported a lifetime psychiatric diagnosis from those who reported no diagnosis. The O-LIFE-US and CO-LIFE scores correlated positively with the Social Responsiveness Scale 2 (SRS-2) indicating good convergent validity. CONCLUSIONS: Like the original O-LIFE, the O-LIFE-US and the CO-LIFE are valid and reliable tools that reflect the spectrum of psychiatric and schizotypal traits in the general population. Such scales are necessary for conducting family studies that aim to examine a range of psychological and behavioral traits in both children and adults and are well-suited for the Research Domain Criteria (RDoC) initiative of the NIMH.

An international review of autism knowledge assessment measures.

Autism spectrum disorder-specific knowledge deficits contribute to current disparities in the timing and quality of autism spectrum disorder services throughout the United States and globally. This study conducted a systematic review of Western and International literature to examine measures used to assess autism spectrum disorder knowledge. This review identified 44 unique autism spectrum disorder knowledge measures across 67 studies conducted in 21 countries. Measures used in each study were evaluated in terms of psychometric strength. Of the 67 studies reviewed, only 7% were rated as using a measure with strong psychometric support compared to 45% that were rated as using a measure with no reported psychometric support. Additionally, we examined content overlap and subdomains of autism spectrum disorder knowledge assessed (e.g. etiology, symptoms) and cross-cultural adaptation procedures utilized in the field. Based on these findings, the need for a cross-culturally valid and psychometrically sound measure of autism spectrum disorder knowledge is discussed and recommendations for improving current assessment methods are presented, including suggestions for measure subdomains.

The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.

IMPORTANCE: Most disorders caused by copy number variants (CNVs) display significant clinical variability, often referred to as incomplete penetrance and variable expressivity. Genetic and environmental sources of this variability are not well understood. OBJECTIVES: To investigate the contributors to phenotypic variability in probands with CNVs involving the same genomic region; to measure the effect size for de novo mutation events; and to explore the contribution of familial background to resulting cognitive, behavioral, and motor performance outcomes in probands with de novo CNVs. DESIGN, SETTING, AND PARTICIPANTS: Family-based study design with a volunteer sample of 56 individuals with de novo 16p11.2 deletions and their noncarrier parents and siblings from the Simons Variation in Individuals Project. MAIN OUTCOMES AND MEASURES: We used linear mixed-model analysis to measure effect size and intraclass correlation to determine the influence of family background for a de novo CNV on quantitative traits representing the following 3 neurodevelopmental domains: cognitive ability (Full-Scale IQ), social behavior (Social Responsiveness Scale), and neuromotor performance (Purdue Pegboard Test). We included an anthropometric trait, body mass index, for comparison. RESULTS: A significant deleterious effect of the 16p11.2 deletion was demonstrated across all domains. Relative to the biparental mean, the effect sizes were -1.7 SD for cognitive ability, 2.2 SD for social behavior, and -1.3 SD for neuromotor performance (P < .001). Despite large deleterious effects, significant positive correlations between parents and probands were preserved for the Full-Scale IQ (0.42 [P = .03]), the verbal IQ (0.53 [P = .004]), and the Social Responsiveness Scale (0.52 [P = .009]) scores. We also observed a 1-SD increase in the body mass index of probands compared with siblings, with an intraclass correlation of 0.40 (P = .07). CONCLUSIONS AND RELEVANCE: Analysis of families with de novo CNVs provides the least confounded estimate of the effect size of the 16p11.2 deletion on heritable, quantitative traits and demonstrates a 1- to 2-SD effect across all neurodevelopmental dimensions. Significant parent-proband correlations indicate that family background contributes to the phenotypic variability seen in this and perhaps other CNV disorders and may have implications for counseling families regarding their children's developmental and psychiatric prognoses. Use of biparental mean scores rather than general population mean scores may be more relevant to examine the effect of a mutation or any other cause of trait variation on a neurodevelopmental outcome and possibly on systems of diagnosis and trait ascertainment for developmental disorders.

Social cognition, face processing, and oxytocin receptor single nucleotide polymorphisms in typically developing children.

Recent research has provided evidence of a link between behavioral measures of social cognition (SC) and neural and genetic correlates. Differences in face processing and variations in the oxytocin receptor (OXTR) gene have been associated with SC deficits and autism spectrum disorder (ASD) traits. Much work has examined the qualitative differences between those with ASD and typically developing (TD) individuals, but very little has been done to quantify the natural variation in ASD-like traits in the typical population. The present study examines this variation in TD children using a multidimensional perspective involving behavior assessment, neural electroencephalogram (EEG) testing, and OXTR genotyping. Children completed a series of neurocognitive assessments, provided saliva samples for sequencing, and completed a face processing task while connected to an EEG. No clear pattern emerged for EEG covariates or genotypes for individual OXTR single nucleotide polymorphisms (SNPs). However, SNPs rs2254298 and rs53576 consistently interacted such that the AG/GG allele combination of these SNPs was associated with poorer performance on neurocognitive measures. These results suggest that neither SNP in isolation is risk-conferring, but rather that the combination of rs2254298(A/G) and rs53576(G/G) confers a deleterious effect on SC across several neurocognitive measures.

Adaptive and maladaptive correlates of repetitive behavior and restricted interests in persons with down syndrome and developmentally-matched typical children: a two-year longitudinal sequential design.

We examined the course of repetitive behavior and restricted interests (RBRI) in children with and without Down syndrome (DS) over a two-year time period. Forty-two typically-developing children and 43 persons with DS represented two mental age (MA) levels: "younger" 2-4 years; "older" 5-11 years. For typically developing younger children some aspects of RBRI increased from Time 1 to Time 2. In older children, these aspects remained stable or decreased over the two-year period. For participants with DS, RBRI remained stable or increased over time. Time 1 RBRI predicted Time 2 adaptive behavior (measured by the Vineland Scales) in typically developing children, whereas for participants with DS, Time 1 RBRI predicted poor adaptive outcome (Child Behavior Checklist) at Time 2. The results add to the body of literature examining the adaptive and maladaptive nature of repetitive behavior.