Fragile X Syndrome

Description:
Behavior problems associated with Fragile X syndrome include, delay in crawling, walking, or crawling. Also in in hand clapping or hand biting. Signs are hyper active or impulsive behavior, mental retardation, and speech and language delay, tendency to avoid eye contact. Physicals signs are flat feet, flexible joints, low muscle tone, large body size and long face.

Inheritance: Fragile X Syndrome is a random mutation and is X linked so it’s caused by a change in the FMR1 gene. A small section of a gene code-only three letters- are repeated on a fragile area of the X chromosome. Normally, the FMR1 gene makes a protein needed for your brain to grow properly. A defect in this gene makes your body produce to little of the protein, or none at all. Boys and girls can both be affected, but because boys only have one X chromosome, it’s most likely to affect them more severely. You can have fragile X syndrome even if your parents don’t carry it. Fragile X can be a cause of autism or related disorders, although not all children with Fragile X syndrome have these symptoms.

Symptoms:
Symptoms include delay in walking, crawling or twisting. Hand clapping or hand biting; Hyper active or impulsive behavior, mental; retardation, speech and language delay, tendency to avoid eye contact, flexible joints, large forehead, and long face.

Daily Life:


Diagnosis: They diagnose Fragile X syndrome by sending a sample of a person blood to a laboratory to be tested for gene mutation. The test for Fragile X is available at most major medical centers. A health care provider, genetic counselor or nation Fragile X syndrome foundation can provide information on testing locations. Boys with Fragile X syndrome are usually diagnosed at about three years old. Girls have milder symptoms and are usually diagnosed a little later.

Treatment:
There is no cure for Fragile X, however, individualized treatment plan-beginning in the preschool years-can help affected children reach their potential. Most children with Fragile X can benefit from treatment by a team of health professionals special educators may include speech/language therapist, physical and occupational therapist, special educators, and pediatricians. Common medication includes antidepressant, stimulants, antiseizure drugs, antipsychotics.

Research:
Research labs are doing work with pharmacy companies to develop GSK3 inhibitors to treat fragile X. While continuing to build preclinical proof of principle data with these drug classes. Generate preclinical data for several other classes of potential Fragile X therapeutic which have emerged from basic research. They organize at least 2 new clinical trials of promising available drugs with potential for disease modification.


Additional Facts:
1 out of 3600 births it’s likely that a child will be born with Fragile X. Fragile X syndrome is the most common genetically inherited form of mental retardation currently known.
Punnett Square:Tyrrell_B._punnett_square
Pedigree Chart:
Tyrrell_B._pedigree_chart

Pictures:
external image images?q=tbn:ANd9GcSdmohSH8iriJ4n6nsbdqm8VkwwISuQYZoNDZR3XOyo8ozgmVmbag
external image images?q=tbn:ANd9GcRqkGhpOLbVWmec9EbYfJVybnDVuY555EwPyjwMTGbr5xQdkfM1gg
Resources:
**http://www.ncbi.nlm.nih.gov/FragileXsyndrome**
**http://www.youtube.com/fragilexsyndrome**
**http://www.marchofdimes.com/fragilexsyndrome**
**http://fraxa.com/fragilexsyndrome**
**http://www.geneticdiseasefoundation.com/fragilexsyndrome**
Pub Med Health