Autism Spectrum Disorder Symptomatology in Verbal Children with Williams Syndrome

Many genetic disorders of known etiology share behavioral characteristic with the autism spectrum disorders (ASD), including language delays, social difficulties, and unusual patterns of behavior. There exist tendencies to either over- or under-pathologize these similarities, resulting in both false diagnoses and diagnostic overshadowing. Recent findings in Williams syndrome (WS), a genetic disorder often contrasted with ASDs, have demonstrated a significant overlap between these two phenotypes in young children with limited language. Using a gold-standard autism diagnostic tool, the ADOS, the present study aimed to further characterize the nature of socio-communicative behaviors in verbal children with WS, both within WS and in comparison to children with Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) and developmental conditions of mixed etiology (ME). Results indicated that approximately one-third of the children with WS met threshold for classification on the autism spectrum. There were a number of items on which the children classified ASD and those classified non-spectrum received different scores, such as conversation difficulties, quality of social overtures including integrated eye contact and facial expressions, and play behaviors. Consistent with previous studies, children with WS who have significant socio-communicative difficulties (i.e., those classified ASD ) demonstrate a behavioral profile similar to that seen in children with Pervasive Developmental Disorder-Not Otherwise Specified. Implications for understanding the nature of the behavioral pattern in WS, and in genetic disorders in general, will be discussed

Social Cognition in Williams Syndrome: Relations between Performance on the Social Attribution Task and Cognitive and Behavioral Characteristics

Williams syndrome (WS) is a developmental disorder of genetic origin, with characteristic cognitive and personality profiles. Studies of WS point to an outgoing and gregarious personality style, often contrasted with autism spectrum disorders; however, recent research has uncovered underlying social reciprocity difficulties in people with WS. Social information processing difficulties that underlie these social reciprocity difficulties have been sparsely examined. Participants in the current study included 24 children with WS ages 8 through 15. A lab-based measure of social perception and social cognition was administered (Social Attribution Test), as well as an intellectual functioning measure (KBIT-II) and parent reports of communication and reciprocal social skills (Social Communication Questionnaire, Social Responsiveness Scale). Relations between social cognition, cognitive abilities, and social-communication were examined. Results demonstrated relations between parent-reported social reciprocity and the typicality of the responses provided in the lab-based measure, even once variability in intellectual functioning was taken into account. Specifically, those individuals who produced narratives in response to the social attribution task (SAT) that were more similar to those described in previous studies of typically developing individuals were also reported to have fewer social reciprocity difficulties in the real world setting as reported by parents. In addition, a significant improvement in performance on the SAT was seen with added scaffolding, particularly for participants with stronger intellectual functioning. These findings indicate that difficulties interpreting the social dynamics between others in ambiguous situations may contribute to the social relationship difficulties observed in people with WS, above and beyond the role of intellectual functioning. Exploratory analyses indicated that performance by individuals with stronger intellectual functioning is improved with additional structure to a greater degree than for those with weaker intellectual functioning. Interventions that specifically target these social information processing of individuals with WS would likely be beneficial

Adaptive Behavior in Young Children with Neurofibromatosis Type 1

Neurofibromatosis-1 is the most common single gene disorder affecting 1 in 3000. In children, it is associated not only with physical features but also with attention and learning problems. Research has identified a downward shift in intellectual functioning as well, but to date, there are no published studies about the everyday adaptive behavior of children with NF1. In this study, parental reports of adaptive behavior of 61 children with NF1 ages 3 through 8 were compared to an unaffected contrast group (n=55) that comprised siblings and community members. Significant group differences in adaptive skills were evident and were largely related to group differences in intellectual functioning. In a subsample of children with average-range intellectual functioning, group differences in parent-reported motor skills were apparent even after controlling statistically for group differences in intellectual functioning. The implications of the findings for the care of children with NF1 are discussed