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.
Charles Cronin is an Internal Medicine provider in East Greenwich, Rhode Island. Dr. Cronin and is rated as an Experienced provider by MediFind in the treatment of Fragile X Syndrome. His top areas of expertise are Osmotic Diuresis, Type 2 Diabetes (T2D), Glucocorticoid-Remediable Aldosteronism, and Familial Hypertension.
Dartmouth-Hitchcock Clinic
George Culler is a Neurologist in Keene, New Hampshire. Dr. Culler and is rated as an Experienced provider by MediFind in the treatment of Fragile X Syndrome. His top areas of expertise are Generalized Tonic-Clonic Seizure, Seizures, Memory Loss, and Epilepsy. Dr. Culler is currently accepting new patients.
Reliant Medical Group Inc
David Sommer is a Neurologist in Worcester, Massachusetts. Dr. Sommer and is rated as an Advanced provider by MediFind in the treatment of Fragile X Syndrome. His top areas of expertise are Parkinson's Disease, Fragile X Syndrome, Fragile XE Syndrome, and Hereditary Ataxia. Dr. Sommer is currently accepting new patients.
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