Title

Autism Severity in Children with Fragile X Syndrome and Genetic Variation

Author(s)

Elise Pyon, GSSM

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.

Location

Neville 305

Start Date

4-14-2018 11:15 AM

Presentation Format

Oral and Written

COinS
 
Apr 14th, 11:15 AM

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.