Category: Fragile X

July is the 21st annual National Fragile X Awareness Month. According to the National Fragile X Foundation, “Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges, and various physical characteristics. It is also a cause of autism spectrum disorder.”

National Fragile X Awareness Month educates the public about FXS and calls attention to the need for more research about the syndrome. Research about FXS is critical not only for the people who have the syndrome, but also because such research could also provide valuable clues to effective treatments and cures for disorders such as ASD, Alzheimer’s disease and other brain disorders.

FXS affects both males and females but occurs more frequently in males, who are usually impacted more gravely. Estimates provided by the National Fragile X Foundation tell us that 1 in 3,600 to 4,000 males have FXS while 1 in 4,000 to 6,000 females have the syndrome.

People with Fragile X syndrome live normal life spans as FXS does not cause life-threatening medical challenges. Some individuals with FXS, however, may also be affected by connective tissue concerns such as “ear infections, flat feet, high arched palate, double-jointed fingers and hyper-flexible joints,” according to the National Fragile X Foundation. Likewise, many share distinctive physical characteristics including “large ears, long face, soft skin and large testicles (called “macroorchidism”) in post-pubertal males.”

Individuals with FXS may share behavioral features including ones commonly associated with ADHD and ASD. These may include social anxiety; hand-biting and flapping; sensory integration disorders; poor eye contact; and the tendency for aggressive behavior.

Yet, these individuals are also known for their cheerful dispositions, notes the foundation. They are generally “very social and friendly; have excellent imitation skills; strong visual memory/long-term memory; are kind and thoughtful and like to help others; and have wonderful senses of humor.”

How can you support individuals with FXS this month? The National Fragile X Foundation recommends initiating and/or taking part in any of the following awareness activities:

1. Displaying “July is Fragile X Awareness Month” yard signs on your lawn
2. Displaying “July is Fragile X Awareness Month” posters in store windows, schools and other community meeting places
3. Posting educational information and personal stories about people living with FXS online
4. Sharing videos and information posted by the National Fragile X Foundation on your social media accounts
5. Hosting or joining X Strides 2021, a virtual walk/run fundraiser to support the National Fragile X Foundation on July 31.

To learn more about FXS, visit the Fragile X National Foundation’s website; and order the Fragile X Associated Disorders Handbook for Families, Healthcare Providers, Counselors and Educators.

To register for X Strides 2021, click here.

July is National Fragile X Awareness Month. As we head into the last full week of this month, we dedicate this post to educating readers about Fragile X Syndrome.

According to the National Fragile X Foundation:
Fragile X is a group of genetic disorders caused by a mutation in a single gene on the X chromosome.

Fragile X syndrome is the most common inherited cause of intellectual disability and autism and can range from mild to profound impairment.

People can be carriers of the FMRI gene that causes Fragile X without having any symptoms of the disorder

Those with Fragile X are at risk for developing:
Fragile X-associated Tremor/Ataxia Syndrome(FXTAS), a nervous system disorder that causes tremors, ambulatory difficulties, and trouble with balance, memory, and behaviors especially among older males. Fragile X-associated Primary Ovarian Insufficiency(FXPOI), a malfunction of the ovaries that can cause early menopause and even infertility.

Fragile X and Autism Spectrum Disorders present similarly in some cases.
Similarities include:
hand flapping
social anxiety
poor eye contact
sensory challenges

About 2-3 percent of children with autism spectrum disorders also carry a diagnosis of Fragile X. Fragile X is the most common genetic cause of autism. Both disorders are more commonly diagnosed in boys than in girls. Boys with Fragile X are typically more severely affected than girls.

Differences include:
Their genesis: Fragile X is a genetic disorder with a known cause and can be diagnosed with a blood test. Autism is a behavioral diagnosis, and in most cases, its cause is unknown.
Boys with Fragile X sometimes exhibit distinctive physical characteristics such as “large ears, long face, soft skin and (post puberty), large testicles. Connective tissue problems may include ear infections, flat feet, high arched palate, double-jointed fingers and hyper-flexible joints,” says the National Fragile X Foundation. These physical characteristics are not seen in boys with autism who do not have Fragile X. People with Fragile X are generally more intellectually impaired than people with autism who don’t have Fragile X.

Hope for individuals with Fragile X Syndrome
Although Fragile X Syndrome can be extremely debilitating, the outlook for people with Fragile X and their families has become a good deal brighter since the completion of the Human Genome Project in 2003.

According to a 2016 N.Y. Times article by Gardiner Harris, back in the 1980s, scientists were aware of only a “handful” of genetic diseases. Yet, in the years since the Human Genome Project, they have identified “roughly 5,800” genetic diseases. In response to their discoveries, thousands of charities have been established with the goals of researching and curing these diseases. Many of these charities were founded by parents and family members of affected children.

More than 20 years ago, after her son Andy was diagnosed with Fragile X, Katie Clapp founded a venture philanthropy that raises millions to seek a cure for the syndrome that affects her son and so many others. As Gardiner points out, Clapp and families of people with other genetically-based conditions are no longer content to simply raise awareness or find ways of coping with their loved one’s disabilities.

“Driven in part by the sequencing of the human genome…thousands of foundations are springing up and trying to [find cures]. The larger and more established ones, such as the Alzheimer’s Association, Michael J. Fox Foundation and the Spinal Muscular Atrophy Foundation, are investing millions not only in the search for specific cures but also for the biological tools and biomarkers any researcher or company could use.”

Though Clapp’s foundation, the “Fraxa Research Foundation is smaller, it’s having an impact.

According to the philanthropy’s website, FRAXA has funded more than $25 million in biomedical research, yielding discoveries that are changing the lives of families coping with fragile X.” Along with funding research, FRAXA runs scientific meetings, advises pharmaceutical companies large and small, and provides education on college campuses, community settings, and international conferences.”

What’s more, research into FXS may also yield important information about other disorders such as autism and Alzheimer’s Syndrome and other developmental disabilities.