In Vivo Studies for Acquired Savant Syndrome

A blog article by Ashlie Reker Ph.D.

Acquired savant syndrome is the presentation of new advanced or expert level skills following traumatic brain injury (TBI) resulting from blunt for trauma to the head, such as from a car accident, or pathology, such as dementia or stroke. These new skills are, by and large, in music, art, calendar calculating, language, visual-spatial, mechanical, or maths. While the etiology of acquired savant syndrome remains unknown, functional lateralization is thought to play a key role, as acquired savant syndrome most often presents after TBI to the left lateral lobe of the brain (Gyarmathy, É., 2018), resulting in greater utilization of the right lateral lobe, believed to govern the above skills.

The dearth of knowledge regarding the underlying mechanisms of acquired savant syndrome is due to the astoundingly low number of documented cases – a mere 32 (Treffert, DA & Hunter, JR, 2021). A looming question in the quest to understand the condition is essentially one of “the chicken or the egg”: are we all savants whose talents only become “awakened” after trauma, or are the talents a direct result of the trauma?

It is widely known that individuals with autism spectrum disorders are more likely to present with savant syndrome (SS) compared to the general neurotypical population and may offer insight to understanding acquired savant syndrome. Myriad hypotheses concerning the underlying mechanisms of autism include aberrancies in excitation, inhibition, in utero testosterone exposure, and genetics, to name a few, but none of them explain SS, much less acquired savant syndrome.

One in vivo study supports that the presentation of prodigious talents relies on an innately altered neural system, and that baseline hyper-functionality may be at least one contributing factor to the development of autism. Using a rat model, Rinaldi and Markram (2007) showed that prenatal administration of the anti-epileptic / mood stabilizer valproic acid resulted in increased risk of the autism phenotype in offspring suggesting that hyper-reactivity / plasticity may play a role in an autistic-like neural system in this model – the resulting over-sensitivity could lead to hyper-learning that manifests as what we recognize to be SS (Gyarmathy, É., 2018).

As often happens in science, this leads to more questions than it answers: Could the aftermath of TBI result in altered neural network communication and connectivity – globally, locally, or both? If excitation / inhibition ratio is a factor, what drives it – inhibition or disinhibition? Does inflammation that results from TBI play a role in acquired savant syndrome?

Unsurprisingly, the interest in SS stems from the potential to manifest extraordinary abilities in neurotypical individuals without resorting to brain injury. A significant hurdle to addressing this conundrum stems from a lack of in vivo models of savant syndrome. Barring that acquired savant syndrome tends to be associated with reduced left temporal lobe function, there are no known direct correlates or underlying mechanisms of either acquired or congenital SS. In a condition like SS, where replicating such uniquely abstract human concepts in vivo seems nigh impossible, reverse translation, that is utilizing human data to develop animal models, may offer an avenue to success.

Reverse translation requires intricate methodological documentation of both clinical and pre-clinical studies, yields large clinical and pre-clinical data sets, needs multidisciplinary collaboration and possibly implementation of research consortiums. While perhaps currently out of reach for SS, high throughput data collected from data intensive genome, microbiome and, metabolome research has yielded great success in reverse translational development models to study disease onset, progression, and treatment in oncology and cardiovascular disease (Leblanc, GG,).

The requirements of successful high throughput and data intensive research can be readily captured using Climb 2.0 from RockStep Solutions. Climb offers comprehensive studies, materials and methods logging to facilitate data reproduction and verification. Furthermore, single-point storage in the cloud that can be accessed from anywhere in the world essentially eradicates data silos, expediting data sharing and discovery.

Contact RockStep Solutions to see how this end-to-end solution can optimize your research workflows!

References

Éva Gyarmathy. The Savant Syndrome and Its Connection to Talent Development. Open Science Journal of Psychology. 2018; 5(2): 9-16. http://real.mtak.hu/105784/1/Savant.pdf

Leblanc, GG. New Paths Forward in Translational Medicine: Innovative Biological Models.Charles River Laboratires.   https://www.criver.com/sites/default/files/resource-files/charles_river_new_translational_medicine.pdf

Markram, K., Rinaldi, T., Markram, K. The Intense World Syndrome – an alternative hypothesis for autism. Frontiers in Neuroscience. 2007. http://dx.doi.org/10.3389/neuro.01.1.1.006.2007

Markram, K., Markram, K. (2010) The Intense World Theory – a unifying theory of the neurobiology of autism. Frontiers in Human Neuroscience. 2010. http://dx.doi.org/10.3389/fnhum.2010.00224

Treffert, DA, Hunter, JR. The Sudden Savant: A New Form of Extraordinary Abilities. WMJ. 2021; 114(5). https://wmjonline.org/wp-content/uploads/2021/120/1/treffert.pdf  

Treffert DA, Rebedew DL. The savant syndrome registry: a preliminary report. WMJ. 2015;114(4):158-162