The Symptoms and Treatments of Fragile X Syndrome

14 February, 2020
Fragile X syndrome is widely recognized as the most common inherited intellectual disability. Find out all about it in this article!
 

Fragile X syndrome is a hereditary genetic disorder that affects intellectual capacity. As such, it’s a disease that poses challenges for both the sufferer and their family.

This syndrome is the most common form of inherited intellectual disability. One in four thousand men and one in six thousand women suffer from it. The difference between men and women is explained partly by the genetic make-up of each sex. While women have two X chromosomes, males only have one, as the other is the Y chromosome. Because of this, the alteration may not cause obvious symptoms in women.

Therefore, it’s important to consider that if the affected gene is one of the X chromosomes of a woman, the other chromosome can compensate for this deficiency because it contains the same gene. Thus, women may have milder signs of the disorder or simply be carriers without it ever manifesting.

The affected gene in fragile X syndrome is FMR1. Since it’s damaged, it doesn’t produce FMRP correctly or may not ever produce it. Thus, the following symptoms manifest:

  • Intellectual disabilities.
  • Aggression or social relationship disorders.
  • Language problems.

Fragile X syndrome has no cure. However, once diagnosed, it can be treated with rehabilitation therapies. Nevertheless, the problem still cannot be completely reversed.

The symptoms of fragile X syndrome

Fragile X syndrome causes several varied symptoms. The main problem lies in intellectual capacity, but it’s also accompanied by other signs. Some of its characteristic symptoms are:

 
  • Learning disabilities. Overall, intellectual impairment can be mild or severe. Sometimes, it’s accompanied by hyperactivity and attention-deficit, which can profoundly affect children’s schooling. Likewise, it can cause language alterations.
  • Speech delay. This is especially common in men, with a very low incidence among women. Patients often stutter or pronounce words without saying them completely. Experts expect them to develop language much later compared to other children of the same age. Total dumbness doesn’t occur often, but there are patients who never develop language altogether.
  • Physical changes. Some babies don’t manifest any physical characteristics that would make medical professionals suspect fragile X syndrome. However, with the passage of time and the arrival of adolescence, enlarged ears, a prominent forehead, and flat feet are physical signs that usually become more evident.
  • Social adjustment disorders. Children with fragile X syndrome may be anxious, avoid eye contact, and may even be aggressive. Shyness is regularly mentioned among girls.
  • Hypersensitivity. Although the sensory aspect isn’t the most apparent, patients may have photophobia and excessive reactions to loud noises.
A doctor studying genes.
A genetic alteration causes Fragile X syndrome.
 

Keep reading: Preimplantation Genetic Diagnosis

Incomplete forms of fragile X syndrome

Fragile X syndrome doesn’t always completely manifest. If the alteration of the FMR1 gene is mild or occurs in a woman who can compensate with her other X chromosome, then different forms can manifest. Thus, the two alternatives to the usual manifestations are:

  1. First, fragile X-associated primary ovarian insufficiency. The acronym for this syndrome is FXPOI. Women who suffer from it are often infertile and enter menopause early. They may even stop menstruating before they’re 40. On the other hand, if the woman isn’t infertile and gets pregnant, her children have a high risk of inheriting the syndrome.
  2. Second, fragile X-associated tremor/ataxia syndrome. The acronym for this syndrome is FXTAS. Here, the main impairment lies in the nervous system. Patients tend to shake abruptly, have a hard time walking, and suffer imbalances. Overall, there’s also an association with mood disorders.
An infertile woman.
Infertility is one of the forms of incomplete fragile X syndrome.

Find out more here: The Genetic Origin of Sex: the X and Y Sex Chromosomes

Treatment

Unfortunately, this syndrome has no cure. This is a genetic disorder that can’t be fixed once the embryo suffers from it. Likewise, it can’t be reversed during the growth of the affected child.

 

However, rehabilitation therapies can help manage the disorder. They help children correct their speech and incorporate them into the education system. Then, behavioral problems can be addressed with psychologists to improve their social relationships.

These children are ideal candidates for early childhood intervention. In addition, one could say that it’s crucial. At least until the age of three, these children should receive extra help from professionals with proven techniques.

Many associations and patients with fragile X syndrome are working hard to raise awareness of the disease and seek alternatives. You can read more about the disease and take a big first step in making the world a more friendly place: don’t discriminate against people who suffer from it.

 
  • Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, et al. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet. 2009; 85 (4): 503-14.
  • Artigas-Pallarés, J., C. Brun, and E. Gabau. “Aspectos médicos y neuropsicológicos del síndrome X frágil.” Rev Neurol 2.1 (2001): 42-54.
  • López, Guillermo Glóver, and Encarna Guillén Navarro. “Síndrome X frágil.” Revista de neurología 42.1 (2006): 51-54.