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Genetics of Autism: From Chromosomes to Mitochondria
Thursday, July 7, 2011: 3:15 PM-4:30 PM
Miami 2 (Gaylord Palms Resort and Convention Center)
This presentation is on the latest biomedical advances in understanding autism and elucidating its causes. This is important not just for a diagnosis, but for management, prognosis and counseling. Real-life cases demonstrate how much can be gained from genetic information and how an autistic individual as well as his or her family can benefit from knowing the true causes of autism rather than be limited to a mere description of symptoms and signs.
There is a substantial body of evidence that genetics plays a significant role in etiology of autism. A wide variety of genetic causes contribute to autism including chromosomal and single-gene disorders as well as metabolic and in particular mitochondrial diseases. Our center is dedicated to evaluating and treating children and adults with autism as well as providing prenatal counseling on risks of recurrence. We share our experience of working with autistic patients with previously unknown diagnoses. We discovered various genetic defects that were directly implicated in pathophysiology giving rise to autism in these patients. One example is a pair of siblings in their 20s who we diagnosed with a complex unbalanced chromosomal rearrangement involving chromosomes 6 and 9. Another example is a 20-year-old and 22-year-old brothers who had a chromosome 2 deletion disrupting NRXN1 encoding neurexin which is important in neuronal interaction. Among others, we also present an autistic 13-year-old girl with Down syndrome who also has a deletion in chromosome 15 in the locus directly involved in autism. In addition, we describe diagnosis and management of children and adults with autism and metabolic disorders, particularly mitochondrial. We demonstrate how correct diagnosis can make a real difference in evaluation and treatment of patients with autism as well as prevention of potential complications and counseling on recurrence risks.
- To learn about genetic causes of autism
- To appreciate how genetics can affect treatment
- To understand how genetics can help determine prognosis and assess recurrence risks
- To be introduced to metabolic causes of autism including mitochondrial
- To see real-life cases where genetics made a significant impact on diagnosis and management.
Content Area: Current Biomedical Research
Dmitriy M. Niyazov, M.D.
Section Head - Medical Genetics, Department of Pediatrics
Ochsner Clinic Foundation
Dr. Niyazov graduated from University of Rochester medical school and completed residency in medical genetics at Emory University. He joined Ochsner Clinic in 2008. He specializes in autism and mitochondrial disease. He published several manuscripts and given many lectures to parents and doctors on genetics of autism throughout the country.
Susan Fielkow, M.D.
Section Head - Developmental Pediatics, Department of Pediatrics
Ochsner Clinic Foundation
Dr. Fielkow graduated from the University of Florida College of Medicine and completed her pediatric residency at Rush-Presbyterian in Chicago. She is board certified in general and developmental pediatrics and joined Ochsner for Children Child Development Center in 2001. Her professional interests include autism, ADHD, learning disabilities and behavioral problems.