Molecular Genetic Evidence for Shared Etiology of Autism and Prodigy

Abstract

Child prodigies are rare individuals with an exceptional working memory and unique attentional skills that may facilitate the attainment of professional skill levels at an age well before what is observed in the general population. Some characteristics of prodigy have been observed to be quantitatively similar to those observed in autism spectrum disorder (ASD), suggesting possible shared etiology, though objectively validated prodigies are so rare that evidence has been sparse. We performed a family-based genome-wide linkage analysis on 5 nuclear and extended families to search for genetic loci that influence the presence of both prodigy and ASD, assuming that the two traits have the same genetic etiology in the analysis model in order to find shared loci. A shared locus on chromosome 1p31-q21 reached genome-wide significance with two extended family-based linkage methods consisting of the Bayesian PPL method and the LOD score maximized over the trait parameters (i.e., MOD), yielding a simulation-based empirical significance of p = 0.000742 and p = 0.000133, respectively. Within linkage regions, we performed association analysis and assessed if copy number variants could account for the linkage signal. No evidence of specificity for either the prodigy or the ASD trait was observed. This finding suggests that a locus on chromosome 1 increases the likelihood of both prodigy and autism in these families.

From High Intellectual Potential to Asperger Syndrome: Evidence for Differences and a Fundamental Overlap—A Systematic Review

“…These participants scored on average significantly higher than the control group on the Autism Quotient questionnaire (AQ) (Baron-Cohen et al, 2001 ), but lower than the ASD group, except for the sub-category “attention to detail” which was higher than in the ASD group. Results from a second study (Ruthsatz et al, 2015 ) point to genetic evidence suggesting a shared etiology between ASD and “Prodigies.” According to this research, a locus on chromosome 1 could be related to the emergence of both autism and “prodigies” in a same family. These results are consistent with the high prevalence of ASD children found among the HIP group in the Doobay's study (Doobay et al, 2014 ).…”

“…As in ASD, which is classified as a developmental disorder, certain HIP children have a developmental trajectory characterized by a degree of disharmony in the progression of different categories of acquisitions. From a genetic viewpoint, Ruthsatz et al ( 2015 ) have gone as far as suggesting a common etiology between ASD and “child prodigies” in their recent study.…”

Genomic trade-offs: are autism and schizophrenia the steep price of the human brain?

“…Autism has been associated with high intellectual function (Crespi 2016), and it has been reported that the incidence of child prodigy is increased in families in which autism occurs (Ruthsatz and Urbach 2012). To follow up on this, a genome-wide linkage study was undertaken to identify loci that were associated with both autism and prodigy (Ruthsatz et al 2015). The strongest signal that was obtained was to a region on chr1 where the great majority of Olduvai copies map.…”

The assessment of neuropsychological functioning in adults with autism spectrum disorders – tackling the challenge

“…There may be a genetic link between autism and gifted families that often produced autistic and/or ingenious children. Although it does not prove the direct causality between intelligence and ASD, it shows how complex this relation may be [19].…”