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No specific treatment is available. Long-term therapies and interventions are supportive. Screening/monitoring is aimed at detection of complications and comorbid conditions..

First Steps After Confirming Diagnosis

The vast majority of Fragile X diagnoses will be made during childhood after developmental delays have presented. Diagnosis may occur prenatally or in infancy if there is a known family history.
Recommended initial evaluation, depending upon age of diagnosis, should include assessment of/for


  • congenital hip dislocation and club foot
  • hypotonia
  • head circumference
  • feeding and possible GE reflux

Early childhood through adolescence

  • history of seizure activity
  • joint hypermobility
  • recurrent otitis media
  • mitral valve prolapse
  • hypertension
  • strabismus
  • developmental, educational, behavioral and psychological complications

Fragile X associated premature ovarian insufficiency

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Gynecologic evaluation including hormonal and/or ultrasonographic assessment

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Fragile X associated tremor/ataxia syndrome

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  • Neurologic examination
  • Behavioral and psychological assessment
  • Neuroradiologic evaluation

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Diet, Exercise, and Lifestyle Interventions

  • Utilize early educational intervention, special education services, and vocational training
  • Avoid excessive sensory or emotional stimulation

Longitudinal Care

Follow-up Testing/Screening/Monitoring


  • Monitor head-growth velocity
  • Monitor behavior and developmental milestones

Early Childhood through Adolescence

  • Monitor behavior, mood, language, social and developmental milestones. Pharmacologic intervention for behavioral issues may be warranted (See Medications section).
  • Early educational intervention
  • Routine management of complications such as strabismus, otitis media, GE reflux, seizures, mitral valve prolapse and hypertension
  • Monitor linear growth, head circumference and structural facial changes.
  • Evaluate for obstructive sleep apnea, seizures, murmur and hypertension

Fragile X associated premature ovarian insufficiency

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No specific treatment is available. Gynecologic or reproductive endocrinologic evaluation can provide appropriate treatment and counseling for reproductive options.

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Fragile X associated tremor-ataxia syndrome

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No specific treatment is available. Supportive care for problems with gait and/or cognitive deficits may require assistance with activities of daily living.

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Care Team Members


  • Primary care
  • Genetics
  • Developmental/Psychology
  • Special education and vocational training
  • Physical and occupational therapy
  • Speech therapy
  • Social work

As Indicated

  • Cardiology
  • Neurology
  • Psychiatry
  • Ear/nose/throat
  • Ophthalmology
  • Reproductive endocrinology for all female relatives, because they are at risk for premature ovarian insufficiency
  • Mental health counseling for care-takers

Physical/Occupational/Speech/Developmental Therapies

Therapies aimed at improving learning, social interaction, behavior, self-care and vocation.


Counseling may be indicated for parents, care-takers, or at-risk family members for:

  • Grieving the loss of the "normal" child
  • Burden of care-taking
  • Struggling to adapt to behavior differences and educational challenges
  • Guilt, shame, and stigma
  • Anxiety and decision-making regarding risk for future offspring
  • Mood disorders common in premutation carriers

Fragile X associated premature ovarian insufficiency

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Issues can include infertility/family building, body image/sexuality and relationship issues.

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Fragile X associated tremor/ataxia syndrome

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Issues can include grief, fear and anxiety regarding loss of function, personality/cognitive changes.

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  • Stimulants and other medications for ADHD
  • Clonidine for high blood pressure, ADHD and anxiety disorders
  • SSRI's for individuals with extreme emotional lability
  • Aripiprazole and antipsychotics for individuals with extreme behaviors
  • Melatonin for sleep disturbances.

Surgery and/or Procedures

Not applicable

Other Interventions

Not applicable

Treatments and Interventions to Avoid

  • Folic acid in individuals with poorly controlled seizures
  • Stimulants if they exacerbate emotional or behavioral issues

 Reproductive Implications

Diagnosis may profoundly impact child-bearing decisions.  Discussions should include natural vs. assisted conception and predictive genetic testing. (See Risk Assessment for information on risks for offspring).

Effect of the condition on fertility


Males with fragile X syndrome rarely reproduce due to:

  • Cognitive/behavioral limitations
  • Reduced fertility due to malformed sperm and low sperm count.

Male premutation carriers have normal fertility.


  • Females with full mutations may have milder intellectual disability, but are not at increased risk for premature ovarian insufficiency.
  • Females with a premutation have a 21% risk for premature ovarian insufficiency.

See Risk Assessment section for more information on disease risks to offspring of affected individuals and their parents.

Effect of the condition on pregnancy, delivery and/or the post-partum period

None known

Effect of pregnancy on manifestations of the condition

None known



  • 100% of males with a full mutation will have developmental delay and intellectual disability.
  • 50% of females with a full mutation will have developmental delay and/or intellectual disability.
  • Penetrance may be affected by skewed X inactivation, somatic mosaicism for the mutation, or mosaicism for methylation. (See Genetics section for more information on methylation.)

Fragile X associated premature ovarian insufficiency (FXPOI)

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  • 21% of female premutation carriers will develop FXPOI. 
  • Odds of primary ovarian insufficiency increase with the length of the premutation.
  • Women with full mutations are not at risk for primary ovarian insufficiency.

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Fragile X associated tremor/ataxia syndrome (FXTAS)

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  • 40-45% of male premutation carriers over 50 years develop FXTAS. 
  • 8-16.5% of female premutation carriers over 50 years develop FXTAS.
  • Penetrance of FXTAS in premutation carriers increases with age.
  • Neither men nor women with full mutations are at risk for developing FXTAS

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Factors affecting disease expression

  • Females are usually more mildly affected due to the presence of a second normal X chromosome.
  • Expression in females is influenced by the pattern of X-inactivation.
  • Manifestations in both males and females may be affected by somatic mosaicism for the mutation.
  • Expression in both males and females may be influenced by the degree of methylation within the FMR1 gene, or by mosaicism for methylation. (See Genetics section.)

Effect on longevity/lifespan

None known

Effect on function and quality of life

  • Adult males with Fragile X syndrome usually live in supported settings and require assistance with self-care and daily activities.
  • Adult females and males with a milder phenotype may live and function independently, but may develop psychological and behavioral manifestations, joint laxity, premature ovarian insufficiency, and/or tremor/ataxia.

Expected response to therapy

  • Therapies for all FMR1 related conditions are supportive.
  • Behavioral and pharmacologic interventions can improve quality of life, daily function, and care-taker burden.

How do genetic test results alter prognosis?

Not applicable

Presymptomatic or Asymptomatic Patients

Not applicable for fragile X syndrome.

Fragile X associated premature ovarian insufficiency (FXPOI)

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  • Primary ovarian insufficiency may occur any time from adolescence to the 4th decade of life. Women who are known carriers of an FMR1 premutation may wish to complete child-bearing earlier in life.
  • 5-10% of women with primary ovarian insufficiency conceive without assisted reproduction techniques. Offspring are at risk for fragile X syndrome.
  • Ovum donation is the best option to achieve pregnancy in women affected by premature ovarian insufficiency.

For more information about managing FXPOI see the following resources:

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Fragile X associated tremor/ataxia syndrome (FXTAS)

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  • Available treatments focus on reducing symptoms and disability due to FXTAS. No treatment is currently available that slows progression or cures the disease.
  • There are no treatments specific to FXTAS. Available treatments are those that have been shown to reduce the same symptoms when they occur in other conditions. For example, treatment for essential tremor can help some individuals with FXTAS who experience tremors.
  • Useful treatments for FXTAS include medications, psychological and genetic counseling, rehabilitative treatments such as speech, occupational and physical therapy, gait training and surgery. Family supportive services and counseling are important also.

For more information about managing FXTAS see the following resources:

  • Hagerman R. et al. Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. Clin Interv Aging. 2008 June; 3(2): 251–262. [Article]
  • National Fragile X Foundation FXTAS page:

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Consensus Statements and Guidelines

The American Academy of Pediatrics Committee on Genetics. Clinical report providing a brief overview of fragile X syndrome and management guidelines by age group:

  • Hersh JH & Saul RA. 2011. Clinical Report - Health Supervision for Children with Fragile X Syndrome. Pediatrics, 127: 994-1006. [ Article]

The Fragile X Clinical and Research Consortium. An overview of FRAXA and recommendations for management.

  • 2011. Practice Guidelines for Fragile X-associated Disorders: Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) [ Article]

An overview of POI (of all etiology, including FXPOI) and management recommendations:

  • Nelson L. Primary Ovarian Insufficiency. N Engl J Med. 2009;360(6):606-614. [ Article]