Williams Syndrome pattern of strengths and impairments. An unsolved mystery.

Imagine someone seeing a single tree instead of being able to capture the whole forest! How interesting could it be to explore the brain mechanisms responsible for these human idiosyncrasies?

Ten years ago, when I was a Ph.D. student, I was highly committed to develop the most perfect research project by employing the best practices in neuroscience investigation. I was studying the visual processing in a rare disorder named Williams syndrome. These patients tend to focus on parts or details of an image instead of perceiving the whole configuration.

My first fMRI experiment started with a technical issue

My research hypothesis was defined but I was struggling with the selection of the best tool to investigate these mechanisms. So, I decided to ask for help and talked with Marieke, an experienced scientist from my research institute.

After some brainstorming, she suggested the use of magnetic resonance imaging to understand what brain areas are activated when people explore visually a given image.

Having this in mind, I carefully created my first fMRI experiment. Everything was set, all the pilot tests were performed, and we were ready to start the study. However, just before the first session, I realized that the resonance equipment produces a strident noise and, at the same time, patients with Williams syndrome have a higher sensitivity to the sound, avoiding noisy situations.

Yeah, it’s exactly what you are thinking…I had a problem!

A human touch made the difference for patients with Williams syndrome

To solve this last-minute issue, I found a thoughtful solution by holding the hand of the patients during the resonance exam, trying to make them feel supported and safer ensuring their collaboration in the study.

The solution was perfect! Patients felt confident to perform the task and I was able to acquire all the data I needed to finish my PhD. Finally, I was almost crossing the finish line of this challenging adventure.

However, when I analyzed the results of my visual task, I realized that all my data was contaminated by an unexpected activation of the motor cortex.

I couldn’t believe it! It didn’t make sense!

Patients were performing a visual task with no motor component. So, why was I obtaining motor activation?

I re-analyzed the data over and over again and I found consistently the same pattern of results.

My solution introduced a bias

Desperate, I again sought out for council from Marieke and, in very calm voice, as always, she told me: “Inês, you are getting activation in the motor cortex because the hand of the patients was being touched during the exam. We know that holding someone’s hand can elicit changes in neural circuits modulating our brain responses.”

At that moment I felt so naïve. I couldn’t believe that my incredible solution was, in fact, an additional problem.

Seeing me hopeless and discouraged, she said: “Come on, give me your hand…let’s find a solution.”

We worked together to find a way to eliminate the motor signal and isolate the visual brain circuits and I was able to publish our findings regarding the visual cortex activation in Williams syndrome, successfully finishing my Ph.D.

The most important finding

Well…all is well when it ends well!

But let me tell you that the most important finding I had from my Phd journey, is how important the human touch can be.

So, next time you hold someone’s hand…Remember! We may not see it, but it can really make a difference.

INES BERNARDINO