FIGURE 6.
Comparison of Social Responsiveness Scale (SRS) total scores and sub-scores between 3q29dup and controls. (a) SRS total scores split by controls (n = 56), female with 3q29dup (n = 9), and males with 3q29dup (n = 6), showing that participants with 3q29dup score significantly higher than controls irrespective of sex. For each box plot, the dashed line indicates the mean value, while the solid line indicates the median. (b) SRS total scores split by controls (n = 56), 3q29dup not reporting an autism spectrum disorder (ASD) diagnosis (n = 9), and 3q29dup reporting an ASD diagnosis (n = 6), showing that participants with 3q29dup score significantly higher than typically developing controls irrespective of self-reported autism spectrum disorder (ASD) diagnosis status. For each box plot, the dashed line indicates the mean value, while the solid line indicates the median. (c) Profile of individuals with 3q29dup (n = 15) and controls (n = 56) across SRS subscales, showing moderate to severe impairment of participants with 3q29dup in all domains (Restricted Interests and Repetitive Behaviors [RRB]; Social Communication and Interaction [SCI]). (d) Profile of females with 3q29dup (n = 9), males with 3q29dup (n = 6), and controls (n = 56) across SRS subscales, showing that males and females with 3q29dup both score significantly higher than controls and that the overall shape of the profile is consistent between males and females with 3q29dup. (e) Profile of participants with 3q29dup reporting an ASD diagnosis (n = 6), participants with 3q29dup not reporting an ASD diagnosis (n = 9), and controls (n = 56) across SRS subscales, showing that participants with 3q29dup score significantly higher than controls irrespective of ASD status. ***, p < .001