A study on the genetic causes of autism and Phelan-McDermid syndrome, a rare disorder that usually appears early in life and hampers the development of the nervous system. The research work was conducted as part of Train - the Trentino Autism Initiative, a strategic project of the University of Trento, and was published in the scientific journal Cerebral Cortex
Research continues at the University of Trento to shed light on autism spectrum disorders.
The most recent study focused on hypo-reactivity to sensory stimuli, and tactile stimuli in particular, which is common to autism and Phelan-McDermid syndrome, a rare genetic disorder that usually appears early in life and hampers the development of the nervous system.
The research was conducted within the Train strategic project of the University of Trento by scientists of the Center for Mind/Brain Sciences-CIMeC of the University of Trento (Yuri Bozzi, Luigi Balasco, Luca Pangrazzi, Gabriele Chelini, Alessandra Georgette Ciancone Chama and Evgenia Shlosman) in collaboration with the Italian Institute of Technology-IIT (Alessandro Gozzi, Marco Pagani, Giuliano Iurilli and Alberto Galbusera) and the Department of Cellular, Computational and Integrative Biology-CIBIO of the University of Trento (Giovanni Provenzano and Lorenzo Mattioni). The results were published in the scientific journal Cerebral Cortex.
Abnormal responses to tactile stimuli are often associated with severe forms of autism. To investigate this aspect, the research group worked in the laboratory on a genetic model of autism.
The team focused in particular on the similarities between autism and Phelan-McDermid syndrome, named after researchers Katy Phelan and Heather McDermid who first identified and studied it in a newborn with poor muscle tone. This rare genetic disease, often occurring in the first years of life, is caused by the deletion of the terminal portion of a chromosome, resulting in the lack of a copy of the SHANK3 gene that encodes a protein that is important for the development and functioning of the brain, heart, kidneys and other organs. This gene, in particular, is crucial for the development of the nervous system and brain areas responsible for sensory functions such as touch.
The researchers explain: "The symptoms experienced by patients with Phelan-McDermid syndrome, when it comes to poor tactile responses, are similar to those often found in individuals with autism. With our study we experimentally demonstrated that there is significantly reduced activation of the brain areas involved in the processing of sensory stimuli, such as the cortex and the hippocampus. Now we want to continue our studies to understand the underlying causes of these disorders".
Train, a strategic project of the University of Trento
The research work was conducted in the context of Train (Trentino Autism Initiative), a strategic project of the University of Trento for the study of autism.
Train, coordinated by Yuri Bozzi, is a consortium involving thirteen research groups from various institutions: the University of Trento, the Italian Institute of Technology, the Bruno Kessler Foundation and the Institute of Neuroscience of the National Research Council.
The three core objectives of the consortium are: to carry out multidisciplinary basic and clinical research projects; to promote the interdisciplinary training of young researchers; to disseminate the results achieved in collaboration with organizations of parents of autistic children.
The article was published on 18 November 2021 and is available in Open Access at: https://academic.oup.com/cercor/advance-article/doi/10.1093/cercor/bhab3...
For information on the Train strategic project: https://projects.unitn.it/train/