People with Fragile X Syndrome

People with Fragile X Syndrome, or FXS, may also have autism, and many people with autism also have FXS. The similarities and differences in both can confuse and frustrate researchers, but work continues to understand and treat both of these syndromes.

What Is Fragile X Syndrome?

Discovering whether a child has Fragile X syndrome is very easy. The name itself comes from the fact that it is caused by an overly replicating protein sequence in the X-chromosome of a child.

For girls, with two X-chromosomes, the odds are that the "normal" X chromosome will compensate for the "fragile" one. However, males only have one X chromosome, and this means two things: one, they will exhibit the symptoms of "Fragile X Syndrome" if the replicating pairs are enough to manifest, and two, any children they have will definitely inherit the Fragile X gene.

Worse, the replicating pairs will compound from generation to generation, becoming worse. Discovering whether a child has Fragile X Syndrome or not, is simply a matter of doing a genetic test. Often, care providers will recommend this test when the child shows specific symptoms.

• Intellectual disabilities, ranging from mild problems to severe retardation
• Faces, ears, and jaws may be longer than average, and joints may be extremely flexible, loose enough sometimes to even hyperextend thumbs, elbows, and knees. Flat feet can also be a symptom of Fragile X.
• Social problems, such as extreme shyness, extreme aggression, and a lack of ability to adapt to new situations all can be aspects.
• Boys with Fragile X often have difficulty with language, whether spoken or written. Social and body cues can be difficult to understand or notice. For some reason, girls with Fragile X Syndrome usually don't have this problem.
• Hypersensitivity to sensations such as extremely loud sounds, bright lights, or certain textures can also be a problem.

While this is not a complete list of symptoms, anyone familiar with ASD can see why people with Fragile X Syndrome can also be suspected of being autistic. According to the Fragile X Foundation, the syndrome is the most common single gene cause of autism, being the sole cause in 2-6% of all children who have autism. At the same time, around 33% of all children who have Fragile X syndrome also have some form of autism.

There are, however, some key differences in the symptoms and the treatment of autism and Fragile X Syndrome. One very big one is in the area of social behaviors. Children who have Fragile X Syndrome but do not have autism are usually very social, and thrive in group environments.

It has also been shown in some studies that early treatment with certain medications can help children who have both autism and Fragile X syndrome do better in the areas of both social and language skills.The conundrum for researchers is that while the symptoms may be the same, they are not consistent between the two syndromes, nor are they easy to separate in terms of cause and effect.

At this point, the Fragile X Foundation along with other medical professionals believes that any child who shows signs of autism or retardation should be tested genetically for Fragile X Syndrome. Knowing exactly what they are dealing with can help the team of caretakers – educational, family, and medical – to come up with the best strategy and method of treatment possible.

Unlike autism, people with Fragile X Syndrome can be easily identified genetically even before birth, and this can help parents prepare for the steps necessary to help their child thrive. Many support groups for Fragile X exist, sometimes overlapping with autism support groups as concerned individuals come together to help those with ASD, FXS, or both.

Whether in person or online through venues like the Autism Society of America, sharing the knowledge, joys, and challenges with others can help everyone deal with the conditions.

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