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Fragile X Syndrome - Treatment & Management

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Overview

While there is no treatment for fragile X syndrome (FXS), much can be done to assist both the affected child and his/her family to adapt to the condition, limit secondary disabilities, optimize functional abilities and family life, and plan for the future. Families should be referred to organizations for FXS patients and their families such as the FRAXA and National Fragile X Foundation. Families should also be referred to local agencies that can provide therapies, parenting classes, and financial supports when needed. See Resources below.

Primary Care Roles

Roles of the Medical Home provider include:
  • scheduling health maintenance (or chronic condition) visits frequently enough to remain aware of issues as they arise, build a strong partnership with the family, and provide needed supports. [American: 1996]
  • assuring that the family has access to reliable information, that they can understand, about FXS. Information about autism and intellectual disability may also be helpful. See the Autism spectrum disorders and the Intellectual disability/mental retardation Diagnosis Modules.
  • facilitating access to and coordinating the services provided by other professionals and interpreting the information and advice they offer. See Services below.
  • guiding and assisting the family in working with preschool/school systems to assure appropriate accommodations, reasonable goal setting, and optimal support;
  • facilitating access to PT, OT, and speech therapy through private providers or other systems of care if the child does not quality through the school system; and
  • assessing parental stress, sibling problems, and social supports and connecting families with others in similar situations to provide support and alleviate the sense of isolation.

Pearls And Alerts

Although still under study, treatments targeted at the neurobiological problems in FXS may one day be helpful. These include fenobam, a selective mGluR5 antagonist, and ampakines. See [Hagerman: 2009] for more information.

Practice Guidelines

Guidelines for health supervision of children with fragile X syndrome were updated in 2011 by the American Academy of Pediatrics; see Health Supervision for Children with Fragile X Syndrome (AAP) or the citation below.

Hersh, JH, Saul, RA, and Committee on Genetics.
Health supervision for children with fragile x syndrome.
Pediatrics. 2011;127(5):994-1006. PubMed abstract / Full Text

Systems

Development (general)

Developmental delay/mental retardation should be assessed and the child's developmental outcome optimized with referrals to early intervention, psychology, physical therapy, occupational therapy, and speech therapy. For information regarding specific therapies, see Resources below.

Subspecialist Collaborations and Other Resources

Early Intervention Programs (see Services below for relevant providers)

No or low-cost programs providing assessment and intervention for children with developmental delays.

Developmental Pediatrics (see Services below for relevant providers)

May be helpful in assessment and management of developmental delays and cognitive abilities.

Pediatric Physical Medicine & Rehab (see Services below for relevant providers)

Speech therapy, PT, and OT may be offered through governmental or school based programs. Private services may be needed for specific problems or if the child doesn't qualify for other programs.

Genetics

Many genetic issues will arise during management of children with FXS, including management of the affected child and risk for subsequent pregnancies of the parents and siblings. The following subspecialists may be helpful.

Subspecialist Collaborations and Other Resources

Pediatric Medical Genetics (see Services below for relevant providers)

For periodic visits to follow FXS-specific problems in the child and counseling and support for families.

Genetics, Prenatal (see Services below for relevant providers)

If the family is considering another child, a visit to prenatal gentics may be helpful. Siblings of children with FXS may also benefit from a referral to prenatal genetics when they are considering becoming parents.

Learning/Education/Schools

Medical Home providers may be helpful in assisting the family in working with preschool/school systems to assure appropriate accommodations, reasonable goal setting, and optimal support. All school age children with FXS should have an Individualized Education Plan (IEP) aiming for the most inclusive, least restrictive environment possible and outlining reasonable goals for the child's education. These goals will vary with the child's IQ level and social abilities. IEPs are best developed with input from all the relevant disciplines – psychology, special education, speech therapy, occupational therapy – as well as from the family, teachers, and physicians. See the Resources section below, as well as the Education Supports in the Portal's Education Section.

Subspecialist Collaborations and Other Resources

Learning Evaluations (see Services below for relevant providers)

IQ and achievement testing may be helpful in designing a school program.

Mental Health/Behavior

Behavior problems should be addressed with therapy and medications as necessary by the Medical Home with referrals to psychiatry or psychology if necessary. For information regarding the behavioral and cognitive profile of FXS, see the article by Reiss and Hall. [Reiss: 2007] Symptoms that may respond well to treatment include ADHD, anxiety, aggression, and mood instability. For more information regarding treatment of mental health symptoms in boys with FXS see [Hagerman: 2009]. Also see Developmental Behavioral Pediatric update course (dbpeds.org) and Clinical trials in SMA.

Subspecialist Collaborations and Other Resources

Developmental Pediatrics (see Services below for relevant providers)

For management of behavior problems and some mood disorders.

Behavioral Programs (see Services below for relevant providers)

To help design and implement behavioral programs for the home.

Child Psychiatry (see Services below for relevant providers)

For medical treatment of behavior problems and mood disorders.

Child Psychology (see Services below for relevant providers)

For assessment and management of behavior, IQ/achievement, and autistic features.

Neurology

Seizures: Seizures in children with FXS generally respond well to seizure medication, which should be prescribed based on the seizure type. Although complex partial seizures are the most common seizure type, others are also observed. [Hagerman: 2009] See the Seizure module for more information on seizure treatment.

Subspecialist Collaborations and Other Resources

Pediatric Neurology (see Services below for relevant providers)

Referral to a pediatric neurologist if seizures are occurring is recommended. Although seizures in children with FXS generally respond well to treatment, it is particularly important that a seizure medication with the fewest cognitive and behavioral side effects for each particular child is used for management of seizures.

Eyes/Vision

Periodic visits with pediatric ophthalmology are recommended if strabismus is present. Consider early screening for refractive errors in children with FXS.

Subspecialist Collaborations and Other Resources

Pediatric Ophthalmology (see Services below for relevant providers)

When vision problems are suspected or present.

Cardiology

Although mitral valve prolapse is the most common cardiac problem in children with FXS, other abnormalities are also seen. Signs and symptoms that may be referable to the heart, such as palpitations, exercise intolerance, breathing problems, murmur, chest pain, etc., and aren't otherwise explained should lead to a cardiology referral.

Subspecialist Collaborations and Other Resources

Pediatric Cardiology (see Services below for relevant providers)

For evaluation of heart problems, including mitral valve prolapse.

Maturation/Sexual/Reproductive

Macro-orchidism can be concerning to families. They can be reassured that it bears no relation to sexual functioning nor does it signal precocious puberty, although it is more likely to be noticed in boys who are school-aged or older. Adolescents with FXS and intellectual disabilities need education about their sexuality and may need more supervision when with adolescents of the opposite sex. Also see Sexuality and People with Disabilities (PDF Document 257 KB) .

Subspecialist Collaborations and Other Resources

Pediatric Medical Genetics (see Services below for relevant providers)

A referral to genetics, even if done previously, may be helpful to remind families and adolescents about risks to the offspring of the affected individuals.

Transitions

As children with FXS become adolescents, planning for transitions to adulthood should begin, including planning for guardianship, vocational training, group home placement, and seeking adult medical care. See Resources below and the Transitions section of the Portal.

Resources

Information & Support

For Professionals

FMR-1-related disorders (GeneReviews)
Excellent in-depth information regarding fragile X including diagnosis, testing, pathophysiology

Developmental Behavioral Pediatric update course (dbpeds.org)
Slides from lectures given at the DBPeds Prep Course, 2008, with various links, including genetic cases, learning disabilities, sleep disorders, and others.

For Parents and Patients

Support

FRAXA
A national organization providing research and support for individuals with fragile X syndrome and their families.

National Fragile X Foundation
Information and support from the National Fragile X Foundation

Practice Guidelines

Hersh, JH, Saul, RA, and Committee on Genetics.
Health supervision for children with fragile x syndrome.
Pediatrics. 2011;127(5):994-1006. PubMed abstract / Full Text

Patient Education

Fragile X syndrome (MedLinePlus)
Introduction and links to a variety of reliable sources of information about FXS, from the National Library of Medicine and National Insitutes of Health.

Services

Behavioral Programs

See all Behavioral Programs services providers (26) in our database.

Child Psychiatry

See all Child Psychiatry services providers (19) in our database.

Child Psychology

See all Child Psychology services providers (52) in our database.

Developmental Pediatrics

See all Developmental Pediatrics services providers (2) in our database.

Early Intervention Programs

See all Early Intervention Programs services providers (36) in our database.

Genetics, Prenatal

Perinatal Genetics, more info...
100 Mario Capecchi Drive
Salt Lake City, UT 84132
Phone: 801-585-1861
http://intermountainhealthcare.org/hospitals/primarychildrens/services/pages/Service.aspx?index=Genetics

See all Genetics, Prenatal services providers (4) in our database.

Learning Evaluations

See all Learning Evaluations services providers (10) in our database.

Occupational Therapy

See all Occupational Therapy services providers (27) in our database.

Pediatric Cardiology

See all Pediatric Cardiology services providers (2) in our database.

Pediatric Medical Genetics

See all Pediatric Medical Genetics services providers (3) in our database.

Pediatric Neurology

See all Pediatric Neurology services providers (3) in our database.

Pediatric Ophthalmology

See all Pediatric Ophthalmology services providers (5) in our database.

Pediatric Physical Medicine & Rehab

See all Pediatric Physical Medicine & Rehab services providers (6) in our database.

Physical Therapy

See all Physical Therapy services providers (31) in our database.

Prenatal Genetic Counseling/Diagnosis

See all Prenatal Genetic Counseling/Diagnosis services providers (1) in our database.

Speech/Language Therapy

See all Speech/Language Therapy services providers (35) in our database.

For other services related to this condition, browse our Services categories or search our database.

Studies

Medications that target the neurobiology of fragile X syndrome may be helpful. In addition to fenobam (see the link below), other possibilities include ampkakines and lithium, which is currently available for other indications. See [Hagerman: 2009] for more information.

Clinical trials in Fragile X (clinicaltrials.gov)
Listing of current and recent studies related to Fragile X.

Fenobam study information (FRAXA)
Although in the early stages, fenobam, a slective mGluR5 antagonist, may be helpful in individuals with fragile X syndrome. So far, it has been tested only in adults.

Helpful Articles

PubMed search for Fragile X Syndrome: reviews over the last 3 years

Hersh, JH, Saul, RA, and Committee on Genetics.
Health supervision for children with fragile x syndrome.
Pediatrics. 2011;127(5):994-1006. PubMed abstract / Full Text

Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, Kronk R, Delahunty C, Hessl D, Visootsak J, Picker J, Gane L, Tranfaglia M.
Advances in the treatment of fragile X syndrome.
Pediatrics. 2009;123(1):378-90. PubMed abstract

Wiesner GL, Cassidy SB, Grimes SJ, Matthews AL, Acheson LS.
Clinical consult: developmental delay/fragile X syndrome.
Prim Care. 2004;31(3):621-5, x. PubMed abstract
Information for the primary care provider regarding children with fragile X syndrome.

Authors

Author: Lynne M Kerr MD, PhD, 12/2008
Reviewing Author: Karin Dent MS, CGC, 5/2008
Content Last Updated: 12/2008

Page Bibliography

American Academy of Pediatrics Committee on Genetics.
Health supervision for children with fragile X syndrome.
Pediatrics. 1996;98(2 Pt 1):297-300. PubMed abstract / Full Text
Guidelines reaffirmed in 2007 by the AAP.

Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, Kronk R, Delahunty C, Hessl D, Visootsak J, Picker J, Gane L, Tranfaglia M.
Advances in the treatment of fragile X syndrome.
Pediatrics. 2009;123(1):378-90. PubMed abstract

Reiss AL, Hall SS.
Fragile X syndrome: assessment and treatment implications.
Child Adolesc Psychiatr Clin N Am. 2007;16(3):663-75. PubMed abstract