July is National Fragile X Awareness Month. July 22 has been officially recognized by Congress as Fragile X Awareness Day.
Many people have never even heard of Fragile X Syndrome, but it is a genetic disorder that is the most common inherited cause of intellectually disability and autism and can range from mild to profound impairment.
A fragile X premutation can be present in males or females. Carriers are found in all ethnic and racial groups, Premutation carriers do NOT have Fragile X Syndrome, however, but can have symptoms caused by and related to the disorder:
FXTAS is a disorder of the nervous system that can cause tremors and problems with walking, balace, memory, and behaviors among older adults, particularly males.
FXPOI is a disorder of the ovary that can cause early symptoms of menopause and sometimes infertility.
The National Fragile X Foundation has a list of 31 shareable Fragile X facts – one for each day of Fragile X Awareness month. With thanks to the NFXF, here they are:
- Fragile X is a family of conditions: FXS, FXTAS, FXPOI, and more emerging premutation carrier issues we are just learning about.
- The gene responsible for Fragile X is calledFMR1 and is found on the X chromosome. Everyone has the FMR1gene on their X chromosome.
- The FMR1 gene was identified in 1991. The FMR1gene makes a protein (FMRP) that is important in brain development. Individuals with Fragile X syndrome (FXS) have a deficiency of this protein.
- Mutations, or changes, in the FMR1gene lead to developing one of the Fragile X conditions.
- Fragile X mutations can be classified as “normal”, “gray zone”, “premutation carrier” or “full mutation”. These are defined by the number of CGG repeats in one’s DNA.
- Fragile X is diagnosed through a DNA sample, usually from blood, but amniotic fluid and other tissues can also be tested.
- The test for Fragile X is called the “FMR1DNA test for Fragile X”. The test for Fragile X must be ordered by a physician or a genetic counselor.
- Fragile X conditions are inherited genetically, passed through generations often unknowingly.
- If even one person is diagnosed with Fragile X, members of his/her family should get tested, too! Make a family tree to see who is at risk.
- Females who are premutation carriers of the Fragile X gene mutation have a 50/50 chance of passing the gene mutation to each of their children.
- Males who are premutation carriers of the Fragile X gene will pass the gene to all of their daughters (giving them his X chromosome) but none of his sons (his Y chromosome).
- The full Fragile X mutation causes the FMR1gene to “turn off” and not work properly, a process called methylation. When this happens, the gene does not produce any or enough Fragile X protein.
- Approximately 1 in 3,600 to 4,000 males and approximately 1 in 4,000 to 6,000 females have the full mutation of Fragile X.
- Fragile X syndrome is the leading known cause of inherited intellectual disability. Fragile X syndrome occurs in both males and females.
- Females with Fragile X syndrome generally have milder symptoms than their male counterparts.
- Fragile X syndrome is the leading known genetic cause of autism. Approximately 2-6 percent of children with autism are diagnosed with Fragile X syndrome.
- People with Fragile X syndrome (FXS) can cause a variety of behaviors like shyness, anxiety, difficulty making eye contact and short attention spans.
- People with Fragile X syndrome have many strengths. Many of them have great memory, love to help others and have a great sense of humor!
- You may find it difficult to understand a person with FXS because some have rapid and repetitive speech. It just takes time to learn the speech patterns, but they have a lot of great things to say!
- Sometimes people with FXS need space when things become too loud or overwhelming. Access to peace and quiet helps them to calm down.
- People with FXS usually want to be social, but can be shy or overcome with anxiety. You just have to be patient, smile and talk to them!
- Given the proper education, therapy, and support, all people with FXS can make progress and live happier fuller lives.
- As many as 1 in every 151 women and 1 in every 468 men are premutation carriers of the Fragile X gene.
- FXPOI (fragile X-associated primary ovarian insufficiency) occurs in approximately 22% of female premutation carriers, and is a cause of infertility, early menopause and other ovarian problems.
- Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult onset (age 50+) condition that can cause neurological and psychiatric symptoms in premutation carriers (more common in males).
- FXTAS is often initially misdiagnosed as Parkinson’s disease, Alzheimer’s or a stroke. Features may include
- Balance problems (ataxia)
- Intention tremors (when reaching for something)
- Memory loss
Mood instability or irritability
- Neuropathy (numbness of extremities)
- Cognitive decline
- Fragile X premutation carriers are at a higher risk for high blood pressure, depression, anxiety, hypothyroidism, chronic pain and sleep apnea
- Reasons to get tested for Fragile X: A family history of
- Intellectual disabilities
- Developmental delay
- Speech and language delay
- Autism or learning disabilities of unknown cause
- There is a lot of exciting research in the Fragile X field. Scientists and clinicians have recently shown hope for improvements in testing for better drugs and treatment.
- This year, the NFXF launched the NFXF Biobank to accelerate research into Fragile X treatments and a cure!
- You are not alone! We have a website full of resources, a friendly and responsive staff and a nationwide network of volunteers here for you. Visit fragilex.org to get started!