Background: High cognitive ability is an almost universally positive prognostic indicator
in the context of neurodevelopmental, neuropsychiatric, and neurodegenerative
conditions. However, "twice-exceptional" individuals, those who demonstrate high
cognitive ability (gifted) and also exhibit profound cognitive, behavioral, and mental
health challenges, are a striking exception to this rule.
Methods: We digitized the clinical records of N=1,074 clients from a US-based
specialty clinic serving gifted students. This included a broad array of diagnostic,
cognitive, achievement, and behavioral data, including self, teacher, and parent
reported items. We conducted both hypothesis-driven and unsupervised learning
analyses to 1) identify characteristics whose association with full-scale IQ (FSIQ) was
dependent on autism diagnosis and 2) identify cognitive archetypes associated with
autism diagnosis and related behaviors. We tested the generalization of our findings
using data from the ABCD study (N=10,602).
Results: Self-reported sense of inadequacy was most strongly associated with
increasing FSIQ specifically among autistic clients (beta=0.3, 95% CI:[0.15,0.45],
p=7.1x10 -5 ). Similarly, self, parent, and teacher reports of anxiety increased with FSIQ
(all p<0.05) in autistic individuals, in striking opposition to the ameliorating effect of FSIQ
seen in non-autistic individuals. We uncovered a pattern of decreased processing speed
(PS) coupled with very high verbal comprehension (VC), a PS/VC discrepancy, that was
associated with autism, attention, and internalizing problems. These cognitive-
behavioral links were also observed in the ABCD study. Finally, we found a significant
association between the PS/VC discrepancy and polygenic risk for autism in the ABCD
sample (t=2.9, p=0.004).
Conclusions: Our results suggest that highly elevated IQ with a significant PS/VC
discrepancy is a clinically and genetically meaningful biotype linked to autism.