Girl playing with straw
  • FXS

Fragile X Syndrome

Fragile X Syndrome (FXS) is an inherited intellectual disability that causes developmental delays, learning disabilities and emotional instability, including anxiety, depression and impulsive behavior. Fragile X results from a mutation in a single gene called Fragile X Mental Retardation Gene 1 (FMR1).

FXS symptoms usually appear when children are infants or toddlers. According to the National Institutes of Health, the average age of diagnosis for boys is 36 months and 42 months for girls. The syndrome is more common in males than females, and males usually have more severe symptoms. About one third of those with FXS have features of autism spectrum disorder. Most males with the syndrome and some females have physical symptoms, as well, such as a long and narrow face, a prominent forehead and jaw, drooping ears and flat feet. Other manifestations of the syndrome include hyperactivity, tantrums, and in some cases, seizures.

After puberty, males with FXS may have enlarged testes. Females may have difficulty conceiving or enter menopause early. Pregnant women with a known FMR1 gene mutation are encouraged to undergo prenatal testing to determine if the fetus has FXS, enabling early therapeutic intervention.

According to the National Fragile X Foundation, “Children with FXS tend to have maladaptive behaviors (tantrums, screaming, trying to flee a situation or panic) when their brains and bodies move into fear/fight or flight following a triggering event. The hyperarousal leads to a disorganized state with decreased self-regulation, decreased access to language and communication and reduced attention. Once this process begins, it can be hard to avoid an explosive outburst.”

While there is no cure for Fragile X Syndrome, interventions that target social, emotional and intellectual developmental delays can be effective.

Conventional Treatment

At present, no western medicine treatment exists that is specifically available for FXS. Instead, treatment plans tend to address the symptoms the individual is experiencing. According to the National Institutes of Health, common methods of managing FXS include:

  • Medication for behavioral issues
  • Manage common symptoms
  • Avoid excessive stimulation
  • Tailor education to specific learning difficulties

Support

At The Brain Possible, our goal is to empower you to take a holistic approach to your child’s treatment. Below are ways in which you can support several aspects of your child’s recovery; before embarking on any, be sure to discuss them with your trusted health care providers.

Physical

Children with FXS can find mastering motor skills challenging. Anat Baniel Method and Feldenkrais, both of which are highlighted below, offer the means to waking up the FXS brain by creating new neural connections that were missing due to disability or injury. These therapies can lead to increased movement, cognitive ability, self-regulation, and connectivity with others. These gentle movement and awareness therapies provide missing elements upon which skills are built, allowing a child to spontaneously learn and change.

Physical therapists can also assess problems that affect gross motor development and muscle tone, as well as provide orthotics to address pronated feet.

Emotional/Social

Children with sensory processing problems often resist some common daily activities, as they may face difficulties with hyperarousal and sensory integration. This may contribute to delayed skill development and challenging behavior, all of which can be comprehensively addressed with Occupational Therapy in concert with medical and educational providers. That said, children with FXS and related conditions still need play and daily social interaction--in fact, these actions contribute to healthy development and improve your child’s quality of life. (For additional explanation, see: Sensory.)

  • Play

Sensory

For example, consider Sensory Stimulation Therapy and Dry Skin Brushing, which uses two contrasting textures create the ability to create pleasurable and unpleasurable sensations. One part of the body might be hypersensitive, and another part can feel less, increasing your child’s sensory awareness. Auditory Stimulation Therapy creates the ability to locate, hear, and instantly recognize instantly sounds in your child's environment, encouraging their ability to filter sounds and engage in conversation. This is a core skill, as it’s very important for brain injured children to reduce their sensitivity to sounds in order to tolerate and thrive in the world around them. Additionally, Olfactory and Gustatory Therapy leverages the fact that your sense of smell comes from the your hippocampus which is where memory lives. In other words, this therapy seeks to strengthen your child’s sense of taste and smell, giving them more access to memory.

Here are additional therapies you can consider.

Intellectual

FXS often causes delayed development of speech and language, evident by age two. Most males with FXS have at least a mild intellectual disability. In females, at least one-third experience intellectual disability. Children with FXS might also have challenges with impulsivity and fidgeting; many receive a diagnosis of attention deficit disorder (ADD). Studies have shown that FXS children often have difficulties with executive function, math skills and short-term memory. However, many excel at acquired memory and simultaneous processing. You can support your child in overcoming these challenges, with the help from your child’s school and/or therapist. A practitioner should be able to perform tests identifying your child’s unique intellectual strengths and weaknesses and make recommendations based on the results.

Nutritional/Environmental

Due to the physical and sensory issues outlined above, mealtimes can present particular challenges to children with FXS. The sensory diet concept mentioned above can help your child better tolerate feedings. If your child has FXS, they may eat the same foods over and over and prefer bland and “tan” foods. They may also become upset when foods on the plate touch each other. Because of these challenges, your child with FXS could face nutritional deficiencies that lead to a weakened gut, constipation, allergies, and more. As such, your child may benefit from additional nutritional support, such as eating a brain-healthy diet rich in Omega 3 fatty acids (see also: Ketogenic Diet and Nemechek Protocol). Your child’s occupational therapist and eating specialist can evaluate preferences and help you create a plan to increase your child’s tolerance to other tastes and textures. Outside of the food itself, there are other ways you can support your child with FXS at mealtime. Your child with FXS may have low muscle tone and therefore find it difficult to sit still, so offering physical support—such as utilizing cushions to improve posture—can help improve their mealtime experience. In addition, because many children with FXS can become easily over-stimulated, it can be helpful to add as much predictability to mealtime as possible. For example, use visuals—such as photos of foods or checklists—and consider involving your child in choosing foods and setting the table.

Physiological

Most brain-injured children have abnormal breathing, resulting in many problems: infections, poor circulation, reflux, and seizures are a few. Brain cells die within minutes of oxygen deprivation. The most effective way to increase oxygen to the brain is through improved breathing and better blood flow, according to the book, Healthy Brains, Healthy Children.

There are treatments and therapies you can use to combat these challenges and support your child, including:

We understand that the categorization of conditions on The Brain Possible may not perfectly describe your child.

Our goal is inclusivity, opening the door to dialogue and information sharing.