William Gannon, a medical student at the University of South Alabama College of Medicine, recently presented research on developmental disorders at the Pediatric Academic Society conference in Denver.
Gannon’s abstract, titled “Craniofacial Dysmorphism and Developmental Disorders among Children with Chromosomal Microdeletions and Duplications of Unknown Significance,” focuses on Autism Spectrum Disorders (ASD’s), a group of related brain based disorders that affect a child’s behavior, social and communication skills.
ASD’s are generally found in an average of one out of 110 children, and they are often lifelong disorders with no known cure.
“William gave an outstanding presentation and represented our University well,” said Gannon’s mentor Dr. Hanes M. Swingle, who is associate professor of pediatrics at the USA College of Medicine. “He was extremely poised, presented his research findings in a well organized fashion, and then fielded questions from the audience. I am confident that he is going to do well in the years to come in whatever field of medicine he chooses to pursue.”
According to Gannon, there are multiple known causes of autism involving genetic, metabolic and medical conditions, and not all children diagnosed with ASD have the same prognosis. “Many children with autism progress if they are put in the right intervention program,” said Gannon, who just completed his second year of medical school at USA.
In his research, Gannon wanted to see if children with chromosomal microdeletions (missing genes) or duplications (gene mutation) were more severely affected in terms of having a diagnosis of autism, having lower cognitive test scores, and manifesting more craniofacial dysmorphology (malformations of facial structure) than children from the same clinic population without chromosomal microdeletions and duplications.
Gannon found that children with chromosomal microdeletions and duplications manifested more craniofacial dysmorphology than children in the study without microdeletions or duplications.
“This research sheds light on a common disorder with no known cure or specific, single cause,” Gannon said. “Craniofacial dysmorphology is significant because it is a marker that these children have subtle underlying problems with their brain, leading to the development of autism.”
Gannon added that this research also provides information about family genetic studies. “The parents of these children might be carriers of these traits and therefore be at increased risk of having another affected child,” he said.
“This opportunity has opened my eyes to a completely new field – clinical research,” Gannon said. “It is very interesting and important because we are conducting research in a field where so much information is waiting to be discovered. This has helped me to see that research is possible even while seeing patients.”