How many people have fragile x

While researchers do not have an exact number for how many Americans males and females could have full-mutation fragile X syndrome, the ratios noted above suggest that the raw number of individuals could be as high as 87, or as low as 38, Worldwide, the number could be between 1,, and , However, it is important to note that some published papers suggest greater prevalence and some lower prevalence than the numbers cited above.

Learn more about FXS ». Learn more about the International Fragile X Premutation Registry and join individuals with the premutation and their families to help advance — and encourage — deeper understanding and research into the premutation condition.

Since many children with FXS are interested in social interactions, they may not meet the diagnostic criteria for ASD, even though they exhibit some features of ASD such as poor eye contact, shyness, social anxiety, hand-flapping and sensory issues. Studies show that individuals with FXS who have autism can have a more significant intellectual disability lower IQ than those with FXS who do not have autism.

Given the possibility of a link, it is recommended that all children with ASD, both male and female, be referred for genetic evaluation and testing for FXS and any other genetic cause of ASD.

Learn more about Fragile X and autism ». Regarding the Fragile X premutation, the number of individuals in the U. Worldwide, the numbers could total over 60 million!

This is called cascade testing. DNA testing is recommended for:. Unfortunately diagnosis of Fragile X syndrome is often delayed and it is not uncommon for families to have had a second child born with Fragile X syndrome before the first child has been diagnosed. A prompt diagnosis of Fragile X syndrome is important so that families can get access to appropriate early intervention services to help their child reach their full potential.

The facts about Fragile X syndrome are complicated and the ramifications for families can be serious. It is recommended that parents and family members ask their doctor to refer them to a genetics service, both for testing and follow-up counselling. Genetic counsellors are health professionals qualified in both counselling and genetics.

As well as providing emotional support, they can help you to understand Fragile X syndrome and what causes it, how it is inherited, and what a diagnosis means for your child's health and development, and for your family.

Genetic counsellors are trained to provide information and support that is sensitive to your family circumstances, culture and beliefs. A genetics counsellor can also provide information about the range of reproductive options that are now available. Clinics in Victoria are located in metropolitan Melbourne and major regional centres.

This page has been produced in consultation with and approved by:. During fetal development, the diaphragm or abdominal wall may fail to properly fuse, allowing the abdominal organs to protrude. The characteristic features of Angelman syndrome are not always obvious at birth, but develop during childhood. ASD is a complex disorder that affects a person's ability to interact with the world around them. The cause of birth defects is often unknown, speak to your GP if you are at increased risk of having a baby with a congenital anomaly.

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The State of Victoria and the Department of Health shall not bear any liability for reliance by any user on the materials contained on this website. Skip to main content. Intellectual disability is the hallmark of this condition and, in females, this may be the only sign of the problem.

A specific genetic test polymerase chain reaction [PCR] can now be performed to diagnose fragile X syndrome. This test looks for an expanded mutation called a triplet repeat in the FMR1 gene. There is no specific treatment available for fragile X syndrome. Supportive therapy for children who have fragile X syndrome includes:. Special education and anticipatory management including avoidance of excessive stimulation to decrease behavioral problems. Medication to manage behavioral issues, although no specific medication has been shown to be beneficial.

Vision, hearing, connective tissue problems, and heart problems when present are treated in the usual manner. This condition 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 inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, males experience more severe symptoms of the disorder than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. About Fragile X Syndrome. What is fragile X syndrome? What are the symptoms of fragile X syndrome? Girls who have the full FMR1 mutation have mild intellectual disability.

Both men and women may have problems with tremors and poor coordination.