Fragile X Syndrome Follow-up

  • Author: Jennifer A Jewell, MD, MS; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Aug 4, 2011
 

Further Outpatient Care

  • Routine outpatient care and immunization schedule are indicated in patients with fragile X syndrome.
  • Family counseling assists with behavior modification strategies.
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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.
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Complications

  • Scoliosis
  • Mitral valve prolapse (most frequently encountered cardiac defect)
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Prognosis

  • Life expectancy is normal.
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Patient Education

  • 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
  • For further information, visit the Fraxa Research Foundation Web site or the National Fragile X Foundation Web site.
  • 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.[11]
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Contributor Information and Disclosures
Author

Jennifer A Jewell, MD, MS  Assistant Professor, Department of Pediatrics, University of Vermont School of Medicine; Pediatric Hospitalist, The Barbara Bush Children's Hospital at Maine Medical Center

Jennifer A Jewell, MD, MS is a member of the following medical societies: American Academy of Pediatrics, Massachusetts Medical Society, and Sigma Xi

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael Fasullo, PhD  Senior Scientist, Ordway Research Institute; Associate Professor, State University of New York at Albany; Adjunct Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College

Michael Fasullo, PhD is a member of the following medical societies: American Society for Biochemistry and Molecular Biology, Environmental Mutagen Society, Genetics Society of America, and Radiation Research Society

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

David Flannery, MD, FAAP, FACMG  Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia

David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

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