Autism Severity in Children with Fragile X Syndrome and Genetic Variation
School Name
Governor's School for Science and Mathematics
Grade Level
12th Grade
Presentation Topic
Psychology and Sociology
Presentation Type
Mentored
Abstract
Fragile X Syndrome (FXS) is a rare genetic disorder that causes neurodevelopmental deficits. It is caused by a mutation on the FMR-1 gene due to an excessive amount of CGG repeats, which inhibits the growth of Fragile X Mental Retardation Protein (FMRP), an essential protein for neural plasticity. Children with FXS often develop autism, a disorder characterized by mental delays and physical features but an unknown cause. To study the correlation between children’s behavior and genetic variation, CGG repeats and FMRP levels were studied. Higher CGG repeats would indicate a more sever autistic behavior, while higher FMRP levels would indicate typical development. In this experiment, the number of CGG repeats and FMRP levels were compared to a child’s CARS score to determine if those two variables were the determining factor in the severity of autism. High amounts of both correlated to a high CARS score.
Recommended Citation
Pyon, Elise, "Autism Severity in Children with Fragile X Syndrome and Genetic Variation" (2018). South Carolina Junior Academy of Science. 93.
https://scholarexchange.furman.edu/scjas/2018/all/93
Location
Neville 305
Start Date
4-14-2018 11:15 AM
Presentation Format
Oral and Written
Autism Severity in Children with Fragile X Syndrome and Genetic Variation
Neville 305
Fragile X Syndrome (FXS) is a rare genetic disorder that causes neurodevelopmental deficits. It is caused by a mutation on the FMR-1 gene due to an excessive amount of CGG repeats, which inhibits the growth of Fragile X Mental Retardation Protein (FMRP), an essential protein for neural plasticity. Children with FXS often develop autism, a disorder characterized by mental delays and physical features but an unknown cause. To study the correlation between children’s behavior and genetic variation, CGG repeats and FMRP levels were studied. Higher CGG repeats would indicate a more sever autistic behavior, while higher FMRP levels would indicate typical development. In this experiment, the number of CGG repeats and FMRP levels were compared to a child’s CARS score to determine if those two variables were the determining factor in the severity of autism. High amounts of both correlated to a high CARS score.
