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Fragile X Syndrome Treatment & Management

  • Author: Jennifer A Jewell, MD, MS; Chief Editor: Maria Descartes, MD  more...
 
Updated: Apr 05, 2016
 

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.

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Consultations

Consultations may include the following:

  • Genetic specialist: Genetic counseling are important to inform patients and families and to assist with family planning and reproducive decisions.
  • 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).
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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.

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Activity

No limitations of activity are indicated.

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Contributor Information and Disclosures
Author

Jennifer A Jewell, MD, MS Assistant Professor of Pediatrics, Tufts University 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, Sigma Xi

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

Eric T Rush, MD, FAAP, FACMG Clinical Geneticist, Munroe-Meyer Institute for Genetics and Rehabilitation; Assistant Professor of Pediatrics and Internal Medicine, University of Nebraska Medical Center

Eric T Rush, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American College of Physicians, Nebraska Medical Association

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Alexion Pharmaceuticals<br/>Honoraria for: Alexion Pharmaceuticals and Biomarin Pharmaceuticals.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

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, American Society for Biochemistry and Molecular Biology, Genetics Society of America, Environmental Mutagenesis and Genomics Society

Disclosure: Nothing to disclose.

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