Insistence on sameness and broader autism phenotype in simplex families with autism spectrum disorder.

Insistence on sameness (IS) in individuals with autism spectrum disorder (ASD) and their families may have utility in identifying meaningful subgroups for studying the pathophysiological and genetic pathways affected in ASD. The primary objectives of the current study were to (1) characterize features of IS in parents of children with ASD and (2) examine their relationships with child IS symptoms. Participants were 2760 families who participated in the Simons Simplex Collection. Levels of parent IS were measured using the Broader Autism Phenotype Questionnaire (BAPQ). A factor analysis generated a BAPQ-IS scale, consisting of a subset of 11 items from the original BAPQ-Rigid scale. Correlations were run to examine the relationship between parent BAP and child IS variables. Correlations were found between parent IS and measures of child IS. Although relationships between parent and child IS features were statistically significant in this large sample, effect sizes were small. Results may be reflective of sample design that only included simplex families, where ASD severity may be predominantly driven by spontaneous mutations and less by common inherited risk from parents. In addition, child and parent measures used may have differentially captured features and severity of IS. Further research is needed on how IS can be accurately measured throughout development and across individuals with ASD and their unaffected family members to facilitate future studies on IS as a possible endophenotype for ASD. Autism Res 2018, 11: 1253-1263. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Previous research has suggested that insistence on sameness (IS) may be a heritable trait in autism spectrum disorder (ASD). The study examined whether children with high levels of IS had parents with IS tendencies. A small relationship was found between parent and child measures of IS. Future research is needed on measurement of insistence on sameness across individuals with and without ASD to further examine this relationship and improve understanding of the genetics of ASD.

Observed and Parent-Report Measures of Social Communication in Toddlers With and Without Autism Spectrum Disorder Across Race/Ethnicity.

PURPOSE: This study investigated whether measures of early social communication vary among young children of diverse racial/ethnic status with and without autism spectrum disorder (ASD). METHOD: Participants were 364 toddlers between ages 18 and 36 months with a diagnosis of ASD confirmed (n = 195) or ruled out (n = 169), from 3 racial/ethnic categories: non-Hispanic White (n = 226), non-Hispanic Black (n = 74), and Hispanic (n = 64). Group differences in social communication were examined using an observational measure-the Communication and Symbolic Behavior Scales Behavior Sample (CSBS-BS; Wetherby & Prizant, 2002)-and a parent-report measure, the Early Screening for Autism and Communication Disorders (Wetherby, Woods, & Lord, 2007). RESULTS: Controlling for maternal education, children with ASD scored significantly lower on the CSBS-BS than children without, indicating poorer social communication skills, and higher on the Early Screening for Autism and Communication Disorders, indicating more ASD features. Racial/ethnic groups did not differ on 6 CSBS-BS clusters, but Non-Hispanic White toddlers scored significantly higher than both other groups on the Understanding cluster. There were no significant Diagnosis × Race/Ethnicity interactions. CONCLUSION: These findings indicate good agreement between observed and parent-report measures in this sample. Results suggest that the CSBS-BS and Early Screening for Autism and Communication Disorders could be viable tools in the detection process for toddlers with ASD in these racial/ethnic groups.

Psychometric analysis of the Systematic Observation of Red Flags for autism spectrum disorder in toddlers.

The purpose of this study was to examine the utility of the Systematic Observation of Red Flags as an observational level-two screening measure to detect risk for autism spectrum disorder in toddlers when used with a video-recorded administration of the Communication and Symbolic Behavior Scales. Psychometric properties of the Systematic Observation of Red Flags were examined in a sample of 247 toddlers of 16- to 24 months old: 130 with autism spectrum disorder, 61 with developmental delays, and 56 typically developing. Individual items were examined for performance to create an algorithm with improved sensitivity and specificity, yielding a total Composite score and Domain scores for Social Communication and Restricted Repetitive Behaviors. Codes indicating clear symptom presence were collapsed to yield a count of the number of Red Flags for the overall scale and each symptom domain. Results indicated significant group differences with large effects for the Composite, both Domain scores, and Red Flags score, and good discrimination (area under the curve = 0.84-0.87) between autism spectrum disorder and nonspectrum groups for the Composite, Social Communication Domain, and Social Communication Red Flags score. The Systematic Observation of Red Flags provides an observational screening measure for 16- to 24-month-olds with good discrimination, sensitivity, and specificity. A cutoff of 20 on the Composite is recommended to optimally detect autism spectrum disorder risk.

Early detection of autism spectrum disorder in young isiZulu-speaking children in South Africa.

Culturally appropriate tools are needed for detecting symptoms of autism spectrum disorder in young South African children. The objectives of this study were to (1) adapt and translate into isiZulu existing measures for detecting early signs of autism spectrum disorder, (2) use the measures to characterize and compare behavioural profiles of young isiZulu-speaking children with and without autism spectrum disorder and (3) compare symptom profiles across sampling procedures. Measures were translated and adapted into isiZulu and used to evaluate 26 isiZulu-speaking children, 15 children with no reported developmental concerns and 11 referred for suspected autism spectrum disorder. A video-recorded observation of children and caregivers in their home environment was also made. Based on best-estimate diagnoses, 10 children were classified as autism spectrum disorder and 16 as non-autism spectrum disorder. The children with autism spectrum disorder presented with significantly more autism spectrum disorder red flags than the non-autism spectrum disorder group according to parent report and systematic ratings of red flags. Significant correlations between parent report and observational measures of red flags were observed. More red flags were observed during structured evaluations than home observations in the autism spectrum disorder group. Findings provide a foundation for tool translation and adaptation in South Africa and identifying social communication markers to detect autism spectrum disorder in young isiZulu-speaking children.

Performance of South African children on the Communication and Symbolic Behavior Scales-Developmental Profile (CSBS DP).

BACKGROUND: Substantial development in social communication skills occurs in the first two years of life. Growth should be evident in sharing emotion and eye gaze; rate of communication, communicating for a variety of functions; using gestures, sounds and words; understanding language, and using functional and pretend actions with objects in play. A delay in these early social communication skills may be the first sign of a developmental delay in young children in nearly all categories of disabilities-including specific language impairment, autism spectrum disorder, HIV/AIDS, lack of environmental stimulation or institutionalization, and global developmental delays-and early detection of these delays is critical for enrolment in appropriate early intervention services. AIMS: No standardized tests of early social communication skills exist for very young children in South Africa (SA). An existing evaluation tool that has the potential to be culturally fair for children from cultural backgrounds different to the standardization group is the Communication and Symbolic Behaviour Scales-Developmental Profile (CSBS DP). This study aimed to document the performance of a group of English-speaking SA children ranging in age from 12 to 24 months on the CSBS DP and to compare this performance with the original standardization sample. METHODS & PROCEDURES: Sixty-seven English-speaking SA children from a range of cultural and linguistic backgrounds were assessed on the CSBS DP Behaviour Sample. Group scores were compared with the original standardization sample using inferential statistics. OUTCOMES & RESULTS: The results provide preliminary support for the suitability and validity of the face-to-face Behaviour Sample as a measure of early social communication skills in this sample of English-speaking SA children from a range of cultural groups between 12 and 24 months of age. CONCLUSIONS & IMPLICATIONS: While further research in the SA population is needed, these findings are a first step towards validating a culturally appropriate measure for early detection of social communication delays in a sample of SA toddlers.