General: Currently, there is no cure for fragile X syndrome (FXS). However, many treatments and therapies may help patients cope with the disorder. With proper therapy and education, most children with FXS are able to develop basic academic skills, and many adults are able to live independently and maintain jobs. However, patients may need more time to learn new things or may require special teaching methods. Early intervention and proper care helps ensure the best possible prognosis, in terms of intellectual, social, and emotional development.
Although the U.S. Food and Drug Administration (FDA) has not approved any drugs for the treatment of Fragile X, many medications, including anticonvulsants, antidepressants, antipsychotics, and stimulants, have been used to treat the symptoms of the disorder.
Education: Most children and adolescents with FXS syndrome must have access to education that is tailored to their specific strengths and weaknesses. According to the Individuals with Disabilities Education Act, all children with disabilities must receive free and appropriate education from age three until the end of high school or until the person is 21 years old (whichever occurs first). However, since not all individuals with FXS have intellectual disabilities, not all individuals need to have access to special education programs. Parents can contact special education coordinators to find out how their children can be examined to determine if they qualify for these services.
If a child has intellectual disabilities, members of the patient's school should consult with the patient's parents or caregivers to design and write an individualized education plan. Once all parties agree with the plan, the educational program should be started. The school faculty should document the child's progress in order to ensure that the child's needs are being met.
Educational programs vary among patients depending on the severity of the person's condition. In general, most experts believe that children with disabilities, including FXS, should be educated alongside their non-disabled peers. The idea is that non-disabled students will help the patient learn appropriate behavioral, social, and language skills. Therefore, some FXS patients are educated in mainstream classrooms. Other patients attend public schools but take special education classes. Others attend specialized schools that are designed to teach children with disabilities.
Behavioral therapy: Behavioral therapy may also be beneficial. Several different types of behavioral therapy are available to help FXS patients improve their communication and social skills, as well as their learning abilities and adaptive behaviors. Behavioral therapy has been shown to reduce inappropriate behavior, including aggressive behavior, in FXS patients. Therapy may also help patients cope with distressing situations and control their emotions. For instance, behavioral therapists may help patients learn how to calm down when they feel anxious or nervous in new social settings. Evidence suggests that behavioral therapy is most effective if it is started early in life, when the patient is three to four years old or younger.
Speech-language therapy: Some patients with FXS syndrome may benefit from speech-language therapy. During speech-language therapy, a qualified speech-language professional (SLP) works with the patient on a one-to-one basis, in a small group, or in a classroom, to overcome speech disorders. Programs are tailored to the patient's individual needs. On average, patients receive five or more hours of therapy per week for three months to several years.
Speech pathologists use a variety of exercises to improve the patient's communication skills. Exercises typically start off simple and become more complex as therapy continues. For instance, the therapist may ask the patient to name objects, tell stories, or explain the purpose of an object.
Occupational therapy: Patients may benefit from occupational therapy. During sessions, a therapist helps the child learn skills to help him/her perform basic daily tasks, such as feeding, dressing, and communicating with others. There are therapists who specialize in patients with specific disorders, including intellectual disabilities. Parents and caregivers can ask their children's pediatricians for recommended therapists.
Physical therapy: Physical therapy may help patients improve their physical strength, balance, posture, and motor coordination. A variety of techniques, including exercises, stretches, traction, electrical stimulation, and massage, are used during physical therapy sessions. A therapist may also teach parents or caregivers how to exercise a baby's muscles. Therapy should be used cautiously because FXS patients may have weak connective tissue, which puts them at risk of developing hernias. Straining or lifting heavy objects increases the risk of experiencing a hernia.
Anticonvulsants: Patients who experience seizures and/or have unstable moods or emotions may benefit from medications called anticonvulsants. Phenobarbital (Luminal® Sodium) is one of the oldest and safest anticonvulsants for children. Valproic acid (Depakene® or Depakote®) has also been shown to be a safe and effective medication for children.
Antidepressants: Patients who experience depression, obsessive-compulsive behaviors, aggressive behaviors, and/or anxiety may benefit from antidepressants. They may reduce repetitive behaviors, tantrums, aggression, and irritability in patients. Drugs called selective serotonin reuptake inhibitors (SSRIs) are the most common type of antidepressants used. Commonly prescribed SSRIs include fluoxetine (Prozac®), fluvoxamine (Luvox®), sertraline (Zoloft®), and paroxetine (Paxil®). Less commonly prescribed antidepressants include clomipramine (Anafranil®), mirtazapine (Remeron®), amitriptyline (Elavil®), and bupropion (Wellbutrin®).
Antipsychotic drugs: Antipsychotic drugs have been used to help treat aggressive and repetitive behaviors, as well as hyperactivity in FXS patients. Commonly prescribed drugs include risperidone (Risperdal®), olanzapine (Zyprexa®), and quetiapine (Seroquel®).
Stimulants: Stimulants, such as methylphenidate (Ritalin®) and amphetamines (Adderall® or Dexedrine®), may help treat hyperactivity and/or attention-deficit/hyperactivity disorder (ADHD), which are often associated with FXS. These drugs help increase the patient's ability to concentrate and reduce the person's overactivity.
tips for caregivers
Caregivers may find support from other families who are caring for a patient with Fragile X syndrome (FXS). Many communities have local support groups for parents, family members, and caregivers of patients.
Caregivers should educate themselves about FXS syndrome. The more a caregiver knows about the condition, the better he/she can help the patient. Caregivers serve as the patient's advocate. Therefore, it is important that caregivers understand that patients with intellectual disabilities must have access to education that is tailored to their specific strengths and weaknesses. Being educated on the disorder may also help the caregiver learn how to communicate better with the patient.
Parents of children with FXS syndrome should stay in close contact with their childrens' teachers. This helps ensure that the children are receiving appropriate education that is tailored to their specific needs. Parents are also encouraged to find out how they can support their children's learning needs at home.
Unclear or conflicting scientific evidence
L-carnitine: The human body produces L-carnitine in the liver, kidney, and brain. There is not enough evidence to support the use of carnitine supplements to treat hyperactive behavior in children with fragile X syndrome (FXS).
Avoid if allergic to L-carnitine. Use cautiously with peripheral vascular disease, high blood pressure, alcohol-induced liver cirrhosis, or diabetes. Use cautiously in low birth weight infants and individuals on hemodialysis. Use cautiously if taking anticoagulants (blood thinners), beta-blockers, or calcium channel blockers. Avoid if pregnant or breastfeeding.
Strong negative scientific evidence
Folate (folic acid): Folate and folic acid are forms of a water-soluble B vitamin. Folate occurs naturally in food, and folic acid is the man-made form of this vitamin. Folic acid supplementation has not been shown to improve symptoms of fragile X syndrome.
Avoid if allergic to folate or any folate product ingredients. Avoid with coronary stents. Use cautiously with seizure disorders. It is recommended that pregnant women consume 400 micrograms daily in order to reduce the risk of birth defects. Folate is likely safe if breastfeeding.
Currently, there is no known method of prevention of fragile X syndrome (FXS). Individuals who have FXS can meet with genetic counselors to learn about the risks of having a child with the disorder.