Further Outpatient Care
Routine outpatient care and immunization schedule are indicated in patients with fragile X syndrome.
Family counseling assists with behavior modification strategies.
Inpatient & Outpatient Medications
Stimulants (eg, methylphenidate, dextroamphetamine) have been used in fragile X syndrome patients for attention deficit disorder (ADD) and attention deficit hyperactivity disorder (ADHD) in the doses prescribed for patients with typical ADHD. Responses vary, but 70% of patients experience some improvement in their behavior. For patients younger than 5 years, alpha-adrenergic receptor agonists (clonidine and guanfacine) may be used to improve behavioral difficulties. Clonidine may be preferred in patients with sleep disorders.
Patients with anxiety may benefit from selective serotonin reuptake inhibitors (SSRIs). Fluoxetine is advised for patients with social anxiety, selective mutism, and autism but should be avoided in patients with impulsivity and other activating symptoms.
Atypical antipsychotics may improve extreme behaviors, including severe agression, mood lability, and self-injury.
Most patients with fragile X syndrome and seizure disorders are treated with a single antiepileptic medication. Phenobarbital, phenytoin, and gabapentin should be avoided. First-line agents include carbamazepine and valproic acid. Other options for patients who do not respond to or cannot tolerate carbamazepine or valproic acid include lamotrigine, oxcarbazepine, zonisamide, and levetiracetam; however, levetiracetam occasionally worsens irritability and aggression.
Antireflux, sleep (eg, trazodone, melatonin), and mood-stabilizing medications (risperidone and aripiprazole) are useful in patients with these symptoms.
Complications may include scoliosis or mitral valve prolapse (most frequently encountered cardiac defect).
Life expectancy is normal.
Family members should attempt behavior modification techniques and be involved with a counselor to assist with appropriate modes of discipline.
Adult patients should reside in the least restrictive environment that is safely acceptable to foster independent living.
Patients should receive special education classes that are appropriate for cognitive ability. Work programs should be sought for patients who are trainable.
Early childhood intervention for children with significant developmental delays is essential, especially in patients with speech and cognitive delays.
For more information by mail, send a request to the following address:
The National Fragile X Foundation; PO Box 37; Walnut Creek, CA 94597
The American Academy of Pediatrics, Committee of Genetics publshed a clinical report, "Health Supervision for Children With Fragile X Syndrome" in May 2011 to assist primary care providers in assuring patients receive comprehensive care and anticiparory guidance. 
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