Fragile X Syndrome Overview
Learn About Fragile X Syndrome
Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.
Mutations in the FMR1 gene cause fragile X syndrome. The FMR1 gene provides instructions for making a protein called FMRP. This protein helps regulate the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells. Synapses are critical for relaying nerve impulses.
Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females.
Fragile X syndrome is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.) The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. X-linked dominant means that in females (who have two X chromosomes), a mutation in one of the two copies of a gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of a gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females.
Rush University Medical Group
Elizabeth Berry-Kravis is a Pediatric Neurologist and a Pediatrics provider in Chicago, Illinois. Dr. Berry-Kravis has been practicing medicine for over 40 years and is rated as an Elite provider by MediFind in the treatment of Fragile X Syndrome. Her top areas of expertise are Fragile X Syndrome, Niemann-Pick Disease, Autism Spectrum Disorder, and Rett Syndrome. Dr. Berry-Kravis is currently accepting new patients.
Regents Of The University Of Michigan
Peter Todd is a Neurologist in Ann Arbor, Michigan. Dr. Todd and is rated as an Elite provider by MediFind in the treatment of Fragile X Syndrome. His top areas of expertise are Fragile X Syndrome, Fragile XE Syndrome, Hereditary Ataxia, and Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease). Dr. Todd is currently accepting new patients.
Maija Castren practices in Helsinki, Finland. Castren and is rated as an Elite expert by MediFind in the treatment of Fragile X Syndrome. Her top areas of expertise are Fragile X Syndrome, Autism Spectrum Disorder, Cardiac Arrest, and Seizures.
Background: Some patients with unusual genetic conditions are referred to the National Institutes of Health (NIH). They may not be eligible to join current research studies. Testing such patients is a good way to improve the skills of research staff. The findings could lead to new processes and research.
Summary: The goal of this study is to identify which brain regions are active during speech-in-noise perception, as well as how those regions interact. The investigators are studying brain activation during speech-in-noise in autism and controls as well as individuals with Fragile X Syndrome. The main question\[s\] it aims to answer are: 1) How does the brain's response to background noise affect a person'...
Published Date: April 01, 2020
Published By: National Institutes of Health