2016 Gatlinburg Conference Poster
PS-63
Title: ASD Symptom Profiles in Males with Chromosomal Aneuploidies Compared with Idiopathic Autism
Authors: Mary Godfrey, Chelsea Sharber, Moshe Maiman, Elizabeth Adeyemi, Gregory Wallce, Jonothan Blumenthal, Liv Clasen,
Jay Giedd, Lauren Kenworthy, Nancy Raitano Lee
Introduction: Autism spectrum disorder (ASD) is characterized by impairments in social interaction and communication skills
(SOC-COM) as well as a restricted or repetitive range of behavior and interests (RBI). Although these symptoms often occur
together, research suggests that independent genetic factors may account for each component, and therefore, these symptoms
may be separable [1]. Youth with genetic disorders that have elevated rates of ASD symptoms offer an opportunity to examine
SOC-COM and RBI skills within the context of a disorder with a known etiology. Thus, investigating differing ASD symptom
profiles across genetic disorders could help to explain the factors influencing the development and fractionation of the ASD
phenotype. This was the goal of the current research.
Methods: Seventy-one males participated in the study (ASD:n=15, XXXY:n=6, XXXXY:n=11, XXYY:n=23, DS:n=16; sample mean
age =11.94±4.70). Participants were a subset of individuals enrolled in studies at the NIMH and Children's National Medical
Center. Parents of participants completed the Social Communication Questionnaire-Revised, Lifetime version and mean
symptom scores (total number of autism positive items/total items in a scale) were compared for SOC-COM and RBI items. To
evaluate whether the SCQ profiles varied as a function of diagnostic group, a 2x4 repeated measures ANOVA was run with one
within-subjects factor (domain: mean SOC-COM or RBI score) and one between-subjects factor (diagnostic group). This analysis
was followed up by a 3 (domain: mean SOC, COM, or RBI score) x 4 (diagnostic group) repeated measures ANOVA in order to
evaluate whether different profiles would emerge if the social and communication questions from the SCQ were considered
separately (analogous to the autism triad model from the DSM-IV).
Results: The results of the 2x4 repeated measures ANOVA revealed a group x domain interaction (F[3,67]=3.34, p<.05) such that
the ASD group had significantly higher RBI than SOC-COM difficulties on the SCQ (p<.01) while the other three groups did not
(ps>.4). The follow-up 3x4 repeated measures ANOVA revealed a somewhat different pattern of results. Specifically, while a
group x domain interaction was still found overall (F[6,134]=2.71, p<.05), an examination of the SOC, COM, and RBI scores within
the groups revealed a different pattern for the DS group in particular. Specifically, the DS group demonstrated significantly fewer
ASD symptoms in the SOC than COM domain (p<.001) and there was also a trend for their SOC score to be lower (indicating
fewer impairments) than their RBI score (p<.06). For the ASD group, both SOC and COM scores were lower than RBI scores
(ps<.03). No differences among SOC, COM or RBI scores were found for the males with XXXY/XXXXY or XXYY.
Discussion: These findings illuminate the differences in ASD symptom profiles across genetic disorders and highlight differences
with idiopathic ASD. Specifically, the ASD group was characterized by relatively greater impairments in RBI than SOC-COM. This
greater difficulty in RBI appeared to be uniquely related to ASD,, as none of the other groups demonstrated this difference in
scores. The DS group pattern revealed significantly lower (less impaired) scores for social interaction than communication,
suggesting sociability is a relative strength of Down syndrome, consistent with the larger literature [2]. For XXXY/XXXXY or XXYY
groups, similar scores were found across all three categories. The current results illustrate the utility of the SCQ in describing the
nature of ASD symptoms in genetic disorders, and elucidate the differences in ASD symptom expression across genetic disorders.
References/Citations:
• Happe & Ronald (2008). Neuropsychol Rev. 18: 287-304
• Fidler et al. (2008). Infant Young Child, 21:207-220