National Fragile X Syndrome Day

Fragile X, Are your kids at risk?

Fragile X Syndrome (FXS): What You Should Know

National Fragile X Syndrome Day is July 22, celebrating those impacted by Fragile X Syndrome (also known as Fry’s Syndrome), a genetic condition resulting from mutation within the FMR1 gene that’s known as the most common form of inherited intellectual disability and leading known genetic cause of autism.

While FXS affects both males and females, it’s more inherent in males, usually with greater severity. In addition to intellectual disability, FXS also may cause mild to severe behavioral and learning challenges.

While there’s no cure for FXS, it doesn’t affect life expectancy. There are usually no life-threatening health concerns associated with the condition.

Researchers have initiated many studies within both general and special needs populations to identify FXS prevalence in males and females. Accordingly, researchers identify approximately 1 in 3,600-4,000 males and approximately 1 in 4,000-6,000 females have FXS within the U.S.

Important FXS Statistics

  • Approximately 1 million Americans carry the Fragile X mutation, including approximately 100,000 with FXS.

  • As many as 1 in every 151 women and 1 in every 468 men are premutation carriers of the Fragile X FMR1 gene.

  • Those with the Fragile X mutation face increased risk for developing FXS or other Fragile X-associated conditions.

    Women in this category may develop Fragile X-associated primary ovarian insufficiency (FXPOI), a leading cause of infertility, early onset menopause before age 40 and additional ovarian problems.

    Those men and women aged 50 years and older in this category are susceptible to neurological and psychiatric symptoms associated with Fragile X-associated tremor/ataxia syndrome (FXTAS.)

  • FXS may be passed genetically from parents who are premutation carriers of the Fragile X gene mutation. Females in this category have a 50/50 chance of passing the gene mutation to each child. Males in this category pass the gene to all female children (male children are unaffected, as they receive the paternal Y chromosome.)

  • Approximately 2- to 6-percent of children with autism are diagnosed with FXS. The National Fragile X Foundation encourages parents of children diagnosed with autism obtain genetic FXS evaluation and testing.


Your Capital Women’s Care team of health professionals shares important information about FXS and its associated conditions, including symptoms, complications, testing and diagnoses; treatments and interventions; how FXS may impact lifelong health; and tips for parents raising FXS-diagnosed children.

FXS Symptoms and Complications

Physical characteristics, range of developmental issues and various behaviors may indicate FSX in both children and adults.

Physical characteristics associated with FXS in males include:

  • elongated face
  • large and prominent ears
  • high palate
  • soft skin
  • low muscle tone
  • crossed or lazy eyes
  • hyperextensibility of finger joints
  • flat feet
  • and, in the case of post-puberty males, large testicles.

Females often have a milder presentation of the syndrome’s behavioral, physical and connective tissue features.

Those with FXS may also have:

  • developmental and speech/language delays
  • rapid, repetitive speech
  • motor skills delay
  • tendencies toward ear infections
  • and susceptibility to having seizures.

Some behaviors of children or adults with FXS include:

  • hand flapping
  • difficulties recognizing social cues
  • biting
  • hyperactivity/short attention span
  • easily distracted
  • have difficulty making eye contact
  • shyness
  • sleep disorders
  • tendencies toward aggression
  • anxiety and/or social anxiety
  • impulsive and/or challenging behaviors
  • and sensory processing issues.

Behavioral characteristics seen in males can also be seen in females. Females tend toward emotional and mental health issues, social anxiety and general anxiety issues.

A small percentage of females who have the full mutation of the FMR1 gene that causes FXS display no apparent signs of the condition. These females are often identified only after another family member becomes diagnosed.

Those with FXS have many positive disposition qualities, including:

  • very sociable and friendly
  • excellent imitation skills
  • strong visual memory/long-term memory
  • especially nice
  • enjoys helping others
  • and wonderful sense of humor.

Those who are identified as premutation carriers, even though they may not exhibit Fragile X-associated symptoms, face added risk of specific health problems, including:

  • high blood pressure
  • depression
  • anxiety
  • hypothyroidism
  • chronic pain (especially related to neuropathy or fibromyalgia)
  • and sleep apnea.

Additionally, roughly one-quarter (about 22%) of female premutation carriers are susceptible to developing Fragile X-associated primary ovarian insufficiency (FXPOI), a leading cause of inconsistent menstrual cycles, infertility, premature ovarian failure (POF), menopause before 40 years of age and other ovarian problems.

What’s more, both genders of premutation carriers who are 50+ years of age are also at risk for developing Fragile X-associated tremor/ataxia syndrome (FXTAS.)  Males are more prone to FXTAS than females.

FXTAS is comprised of many neurological and psychiatric symptoms, including:

  • balance problems (ataxia)
  • intention tremors (especially when reaching)
  • memory loss
  • mood instability or irritability
  • numbness of extremities (neuropathy)
  • and cognitive decline.

FXTAS is often misdiagnosed initially as Parkinson’s disease, Alzheimer’s or stroke due to symptom similarities shared across these conditions.

FXS Testing and Diagnosis

FXS is diagnosed through a DNA sample taken typically from blood, although amniotic fluid and other tissues can also be tested. The test, called the FMR1 DNA test for Fragile X, is ordered by your doctor or genetic counselor.

Testing is recommended to anyone who has:

  • a family history or clinical symptoms that suggest FXS, FXPOI, or FXTAS
  • a family member with intellectual disabilities, developmental delay, speech and language delay, autism or learning disabilities of unknown cause.
  • or has expressed interest in or requests Fragile X premutation carrier testing, including women who are pregnant or contemplating pregnancy.  

The gene responsible for FXS is known as FMR1, which is found on the X chromosome that’s present in human DNA. The job of the FMR1 gene is to create protein (FMRP), a vital component in human brain development. Those with FXS have a deficiency of FMRP. Changes or mutations within the FMR1 gene lead to the development of one of the Fragile X-associated conditions: FXS, FXPOI or FXTAS.

Mutations in the FMR1 gene are defined by the expanded number of CGG repeats that sequence within the DNA. The following designations stipulate whether a Fragile X-associated condition is present:

  • normal – 5 to 44 CGG repeats
  • gray zone – 45 to 54 CGG repeats
  • premutation carrier – 55 to 200 CGG repeats
  • full mutation – 200-plus CGG repeats

Treatment and Intervention

Research and clinical experience indicate children with FXS may benefit from the following treatments and interventions:

  • Early intervention such as infant development therapy and special needs preschool.
  • Speech and occupational therapy, particularly sensory integration.
  • Behavioral Therapies
  • Special education (though many children with FXS are capable of successful integration within an age-appropriate general educational classroom.)
  • Medications for symptom-specific issues such as anxiety, ADHD, and seizures, to name a few.
  • Fragile X clinic referral for consultation regarding educational and therapeutic strategies.

Adolescents and adults with FXS benefit from learning appropriate life skills. These programs can begin in high school and extend into adulthood, and should include education and guidance regarding employment, social activity, recreation, independent living and sexuality.

While FXS and its associated conditions don’t offer a cure, there is exciting research in the Fragile X field, including studies now in human trial stages that demonstrate great optimism with forthcoming safe, beneficial medicines. Families with children having FXS can be hopeful that significant improvements in learning, communication and behavior are in sight within the foreseeable future.

To view information about the latest studies and trials, visit MyFXResearch portal.

10 Tips for Parents of Children with FXS

  • Know that you’ll need a team. Early intervention is crucial, and so is enlisting several professionals to help you care for your child, including a pediatrician, occupational therapists, speech pathologists, physiotherapists, special education teachers and psychologists. Soon after diagnosis, the entire team should meet to discuss the best approach to care for your child and determine goals together concerning feeding skills, how to teach them to get dressed, and how to manage social anxiety, to name a few.

  • Be patient. Children with FXS develop motor and cognitive skills at a much different pace than children without the condition. Everyone on the caregiving team needs to work together to provide the best outcome for the child, both physically and socially.

  • Be present during therapy sessions. The main objective of occupational and speech therapy is to educate parents on how to best communicate with their child. Ask as many questions as they come to mind. Keep a notebook of questions and bring it to appointments. Jot answers in it and keep it nearby at home as a ready reference.

  • Maintain and prioritize consistent routine. Children with FXS can get easily overwhelmed by everyday scenarios and they tend to resist change. This is due to the anxiety that’s an intrinsic part of their medical condition. In fact, changes in routine can cause them to feel fearful and trigger a fight-or-flight response, causing them to become aggressive, hide or disobey requests.

  • Use simple language. Using complex words or giving too many detailed directions can cause a child with FXS to become overstimulated and frustrated. By the same token, using short, predictable phrases makes it easier for your child to understand. Stay focused on the present moment instead of talking about a future event.

  • Pay attention to their body language. Children with FXS often have problems talking, especially if they’re feeling social anxiety. Pay close attention to their body language. Signs they are becoming overwhelmed include flushing, covering their ears or trying to hide. Keep a list of triggers so you recognize them and either prevent them or help them to calm down.

  • Teach them the 5-Point Scale. This scale was developed to assist children in the autism spectrum how to communicate their emotions. By using the fingers of one hand, a child with FXS can communicate whether they feel relaxed (by holding up their index finger), ok (by holding up 2 fingers), nervous (3 fingers), angry (4 fingers) or about to explode (5 fingers).

  • Establish effective calming techniques. Since children with FXS are prone to overstimulation, knowing what calms them is essential. This can be done by playing their favorite music with noise-canceling headphones, breathing exercises or playing with fidget toys or Kinetic Sand.

  • Encourage them to do activities they love. Children with FXS tend to have a good sense of humor and friendly disposition. Focusing on doing activities they enjoy help them shift their focus away from their social anxiety. Play their favorite songs and watch their favorite movies with them, teach them visual cues with pictures and teach them how to use a computer and play games.

  • Prioritize getting support. FXS affects you and your partner, your child as well as siblings. Having a support group allows you to meet people who’ve been dealing with exactly what you’re going through, including different ages and stages of their child’s life. Consult with as many people as possible who understand the condition and who can provide helpful insight into successful practices.

Your Capital Women’s Care team of health professionals is here to address your questions or concerns about FXS and its associated conditions or any women’s health issue. Our knowledgeable, compassionate family of doctors, nurses and support professionals are deeply committed to providing you and your family with comprehensive quality health care and treatment, so you enjoy optimal health and a long quality life.

FXS Resources

Once your child is diagnosed, find out if your child qualifies for intervention services offered in your area. Contact the Center for Parent Information and Resources at www.parentcenterhub.org/find-your-center/.

In addition, the Centers for Disease Control (CDC) has links to information for families at www.cdc.gov/fragilex.

Additional resources include the National Fragile X Foundation (www.fragilex.org) and the FRAXA Research Foundation (www.FRAXA.org).

Sources

https://www.cdc.gov/ncbddd/fxs/
https://www.cdc.gov/ncbddd/fxs/facts.html
https://my.clevelandclinic.org/health/diseases/5476-fragile-x-syndrome31...
https://fragilex.org/understanding-fragile-x/fragile-x-101/
https://fragilex.org/understanding-fragile-x/fx-neuropsychiatric-disorder/
https://www.sonashomehealth.com/caring-for-a-child-with-fragile-x-syndrome/

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