eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Fragile X Syndrome: Treatment & Medication

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

Updated: Mar 2, 2009

Treatment

Medical Care

  • Workup and diagnosis of fragile X syndrome can be done on an outpatient basis.
  • Routine care involves treating the medical problems that these patients commonly experience, including gastroesophageal reflux, sinusitis, and otitis media.
  • During infant and early childhood healthcare maintenance visits, focus examination on possible hip dislocations, hernias, and hypotonia.

Consultations

  • Genetic specialist
  • Speech and language therapist
  • Occupational and physical therapist
  • Behavioral intervention/modification team: Specific areas of focus include social eye contact and stress reduction training.
  • Special education professional: Consultation with a special education professional is appropriate to assess the level of cognitive functioning, attention deficit hyperactivity disorder (ADHD) symptoms, and aggressiveness and to initiate sensory integration therapy for behavior problems.
  • Psychology or behavioral specialist: This consultation is important to assist families with methods for decreasing negative behavior. Additionally, some patients with fragile X syndrome benefit from social skills–oriented therapy and individual counseling.
  • Neurologist: Consult a neurologist if seizures persist.
  • Cardiologist
  • Otolaryngologist: Patients with chronic sinusitis and chronic otitis media require an evaluation by an otolaryngologist.
  • Ophthalmologist: An ophthalmologic referral is important for patients with strabismus.
  • Gastroenterologist
  • Orthopedic surgeon
    • An orthopedic surgeon frequently assesses patients for abnormal gait caused by pes planus, which is managed with orthotic inserts or orthopedic shoes.
    • Although scoliosis is rarely severe enough to warrant orthopedic surgical intervention, the degree of scoliosis should be assessed with spinal imaging. Referral to an orthopedic surgeon is required if the curvature is significant.
  • Nutritionist: For patients with the Prader-Willi syndrome phenotype, consider referral to a nutritionist. Other consultations include experts in Prader-Willi syndrome to guide an exercise program, to assist with environmental solutions (eg, locking cabinets), and to educate about specific Prader-Willi interventions (Food Security and Red, Yellow, Green Dietary Programs).

Diet

  • A special diet is indicated in infants with significant gastroesophageal reflux. In these patients, thickened feeds may decrease the incidence of reflux; otherwise, no special diet is indicated.

Activity

  • No limitations of activity are indicated.

Medication

  • The results of folic acid supplementation to curb the inattention and aggressiveness in prepubertal males are controversial; thus, folic acid supplementation is currently not the standard of care in fragile X syndrome. No effect has been observed in adults treated with folic acid.
  • Trials of medications, such as fenobam, that act as mGluR5 antagonists are underway. Excess mGluR5 signaling occurs when FMRP is decreased or absent. Therefore, downregulation of mGluR5 may improve outcomes in patients with fragile X syndrome. Lithium also inhibits mGluR5 signaling (as well as other pathways) and may benefit patients with fragile X syndrome.

More on Fragile X Syndrome

Overview: Fragile X Syndrome
Differential Diagnoses & Workup: Fragile X Syndrome
Treatment & Medication: Fragile X Syndrome
Follow-up: Fragile X Syndrome
References
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Further Reading

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Keywords

fragile X syndrome, marker X syndrome, Martin-Bell syndrome, retardation, mental retardation, mental deficiency, folate-deficient thymidine-deficient medium, FRAXA, X-linked mental retardation, fragile X-associated tremor/ataxia syndrome, FXTAS, cerebellar ataxia, autonomic dysfunction, severe tremor, neurodegeneration, memory loss, anxiety, irritability, autistic-like behavior, autisticlike behavior, cognitive disorders, neurobehavioral disorders, premature ovarian failure, attention deficits, depressed affect, aggressive tendencies, abstract thinking deficiency, developmental delays, echolalia, pes planus, pectus excavatum, joint laxity, scoliosis, joint dislocation, recurrent sinusitis, otitis media, decreased visual acuity, apnea, macroorchidism

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Contributor Information and Disclosures

Author

Jennifer A Jewell, MD, MS, Clinical 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, American Medical Association, Massachusetts Medical Society, and Sigma Xi
Disclosure: Nothing to disclose.

Medical Editor

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: Radiation Research Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

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.

CME Editor

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, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, 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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