Written & Researched By: Kamya Patel
Fragile X Syndrome (FXS) is a genetic disorder that results from mutations in the Fragile X Mental Retardation 1 gene, located on the long arm of the X chromosome. FMR1 is a protein-coding gene used to create fragile X mental retardation protein (FMRP), which is necessary for normal brain development and function as well as proper intellectual ability. Symptoms of FXS include developmental delays, learning disabilities, social/behavioral issues, sensory difficulties, frequent ear infections, seizures, and trouble with sleep. Because FXS is “one of the more common heritable forms of intellectual disability,” it can be passed onto succeeding generations of a family (“Myth Busters For Providers”). In addition, FXS is known to occur more commonly and with greater severity in males than females.
As of now, there is no permanent cure for FXS, but receiving an early diagnosis is highly valuable for seeking appropriate treatments and education. However, multiple myths related to FXS often cause delayed or missed diagnoses, both of which lead to long-term struggles. Thus, it is important to not only identify these myths but also debunk them with factual information. As a step towards this initiative, here are a few popular myths associated with FXS:
Myth #1: There must be a family history of FXS for a child to inherit the condition.
Fact #1: Since the mutation behind FXS is ever-expanding, it can increase in severity throughout generations. Minor changes in the gene may not be harmful but larger mutations often cause FXS. Smaller changes in genetic material lead to signs of fragile X-associated conditions, such as tremors or early menopause, in a family’s history that can help explain why a child is exhibiting developmental delays, intellectual disabilities, or autistic symptoms. Even without a previous diagnosis of FXS, a deep evaluation of a family’s health history can confirm the presence of mutations ranging in size and severity. If a young child is suspected of having FXS, a good idea would be to contact family members for “Parkinson-like” tremors in older men on the mother’s side, or a history of early menopause and/or fertility problems in women on the mother’s side.
Myth #2: Babies are tested for FXS during pregnancy or directly after birth.
Fact #2: Getting a FXS requires a specific blood test that is separate from all the genetic tests administered to a pregnant woman or the newborn tests that take place after birth. If a child is not walking, talking, and sitting as well as experiencing trouble with eye contact, anxiety, attention span, hand movements, and being active, it is highly recommended to ask doctors for genetic testing, which may help diagnose FXS or another disorder.
Myth #3: FXS is diagnosed using a chromosome test or microarray.
Fact #3: Contrary to popular belief, FXS cannot be detected via standard chromosome test or microarray. Instead, it requires a test called the “FMR1 DNA Test for Fragile X.” Therefore, pediatricians or parents noticing even the simplest signs should order the test in order to gain clarity and make informed decisions for the future.
Myth #4: Girls cannot have FXS, and all boys with FXS have extreme symptoms.
Fact #4: Both sexes, male and female, can inherit FXS. Although boys tend to have greater symptoms, both boys and girls can have a variety of symptoms, ranging from mild to severe.
Myth #5: All FXS patients can be characterized by their unusual physical features.
Fact #5: Physical features, such as prominent ears and a long, narrow face, that are part of the textbook definition of FXS are sometimes not seen within people with FXS. In fact, if such features were to develop, they may not occur until puberty.
Myth #6: A diagnosis is useless if there is no cure for FXS.
Fact #6: Despite the lack of a diagnosis, there are existing treatments for FXS that have proven to assist in managing symptoms and functioning as a supportive family. A few examples include the following: educational and therapeutic approaches catered to an individual’s strengths and weaknesses, checking for other health problems, behavioral treatment techniques, counseling for family planning, and support groups involving those with similar experiences.
References:
“Myth Busters For Patients and Families.” American Academy of Pediatrics.
www.aap.org/en-us/Documents/FXS_Myth_Busters.pdf. Accessed 8 August 2021.
“Myth Busters For Providers.” American Academy of Pediatrics.
www.aap.org/en-us/Documents/FXS_Myth_Busters_Patients_and_Families.pdf. Accessed 8 August 2021.
“What Is Fragile X Syndrome?” Centers for Disease Control and Prevention, 1 June 2021, www.cdc.gov/ncbddd/fxs/facts.html. Accessed 8 August 2021.
“Five Things You May Not Know about Fragile X Syndrome.” Centers for Disease
Control and Prevention, 24 June 2021, www.cdc.gov/ncbddd/fxs/features/fragile-x-five-things.html. Accessed 8 August 2021.