eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Genetics

Fragile X Syndrome: Follow-up

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

Follow-up

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 form 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.
  • 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

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

Prognosis

  • Life expectancy is normal.

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.
  • 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.

Miscellaneous

Special Concerns

  • Because fragile X syndrome is underdiagnosed, has a high prevalence, and is inheritable, preconceptual and antenatal molecular genetic screening is encouraged for women.
  • Obstetricians and primary care providers should recommend screening in high-risk cases. Additionally, a geneticist, genetic counselor, or both should be available to provide accurate information to families if screening findings are positive for fragile X mutations.
  • Southern blot analysis, polymerase chain reaction (PCR), and immunocytochemical testing are used for diagnosing maternal, preimplantation, and fetal premutations; full mutations; and associated proteins.
  • Fetal testing involving chorion villus sampling or amniocentesis may be performed and incurs the risks inherent to these procedures.
  • Recommending prepregnancy or prenatal fragile X syndrome screening to women with a family history of fragile X syndrome or mental retardation and to women with learning difficulties, mental retardation, or both is advisable. All women who are known carriers of the premutation or full mutation should be offered prenatal testing.
  • Genetic counseling is important for women who have premutations and full mutations or who are carrying an affected child.
  • Fragile X syndrome testing should be considered for women with premature ovarian failure, for older adults with ataxia or tremor that could be associated with fragile X-associated tremor/ataxia syndrome (FXTAS), and in children with autism, autism-spectrum disorder, or mental retardation.
  • Some states are considering adding fragile X syndrome to their newborn screening programs.
  • Public awareness about fragile X syndrome is increasing thanks to media attention, including an article in Time Magazine on June 26, 2008.
 


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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