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Fragile X Syndrome - Ongoing Assessment

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Screening

Consider genetic testing for family members of children with known fragile X syndrome (FXS). Family members in surrounding generations may be at risk for learning problems, autism, premature ovarian failure, and fragile X-associated tremor/ataxia syndrome, depending on gene status.

Diagnostic Criteria

There is a wide range of clinical features in children with FXS. Diagnosis is made by genetic testing. See the Genetics section on the Initial Diagnosis page.

History And Examination

Ongoing management of the child with FXS will involve routine well child care, as well as specialized surveillance for problems associated with FXS.

Interim History

Ask about ear infections, hearing or vision problems, and seizure symptoms.

Developmental and Educational Progress

Children with FXS and intellectual disability often have associated autistic features/Pervasive Developmental Disorder, ADHD, and learning problems. Detailed questions about learning, school performance, educational interventions, and planning are important. An individualized education plan (IEP) should be in place for any child not keeping up with school (see Education & Schools).

Social and Family Functioning

Children with FXS may have problems with behavior and agression that can cause social and family stress. Ask about sibling interactions and attitudes/support of extended family.

Physical Exam

HEENT

Look for signs of ear infections, strabismus and refractive errors..

Heart

Look for signs of mitral valve prolapse or other heart problems.

Extremities

Look for signs of hyperextensibility that might benefit from orthopedic referral, such as problematic flat feet, hyperextensible knees, etc.

Genitalia

Look for macro-orchidism in postpubertal males with FXS.

Testing

Sensory Testing

Periodic vision and hearing tests are recommended.

Imaging and EEG

Consider an EEG if there is a clinical picture suggestive of seizures. Approximately 5% of girls and 15% of boys with FXS have seizures, generally in childhood. [Hagerman: 2009]

Subspecialist Collaborations and Other Resources

Developmental Pediatrics (see Services below for relevant providers)

Developmental pediatricians may be helpful in evaluating behavior and learning problems.

Pediatric Cardiology (see Services below for relevant providers)

A referral to cardiology for evaluation may be helpful if mitral valve prolapse or other abnormality is suspected.

Pediatric Ophthalmology (see Services below for relevant providers)

If problems arise on vision screening, refer to pediatric ophthalmology.

Pediatric Neurology (see Services below for relevant providers)

A referral to neurology should be considered if clinical seizures are suspected.

Pediatric Gastroenterology (see Services below for relevant providers)

If challenging feeding problems and gastroesophageal reflux are present in the history, consider a referral to a pediatric gastroenterologist.

Pediatric Genetic Counseling (see Services below for relevant providers)

Consider a referral to pediatric genetics for the child and family members who are at risk.

Comorbid Conditions

Children with fragile X syndrome may have associated conditions including: (Frequencies given below are from [Alanay: 2007]>
  • attention deficit hyperactivity disorder (ADHD) (23%);
  • pervasive developmental disorder (32%);
  • seizures (17%);
  • expressive and receptive language delays;
  • conductive hearing loss associated with frequent ear infections;
  • visual problems including refractive errors and strabismus;
  • cardiac problems including mitral valve prolapse (MVP) (14%) and aortic annulus dilatation;
  • psychiatric disorders including anxiety disorder, depression, impulse control disorder and mood disorders;
  • feeding difficulties and gastroesophageal reflux in infants with FXS. Also see FMR-1-related disorders (GeneReviews); and
  • problems associated with low tone including joint laxity, club feet, and dislocated hips.

Resources

Information & Support

For Professionals

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

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

Guidelines for health supervision of children with fragile X syndrome are available from the American Academy of Pediatrics. The May 2011 guidelines update those orginially published in 1996. 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

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

Developmental Pediatrics

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

Pediatric Cardiology

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

Pediatric Gastroenterology

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

Pediatric Genetic Counseling

See all Pediatric Genetic Counseling services providers (4) 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.

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

Studies

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

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, 11/2008
Reviewing Author: Karin Dent MS, CGC, 5/2008
Content Last Updated: 12/2008

Page Bibliography

Alanay Y, Unal F, Turanli G, Alikaşifoğlu M, Alehan D, Akyol U, Belgin E, Sener C, Aktaş D, Boduroğlu K, Utine E, Volkan-Salanci B, Ozusta S, Genç A, Başar F, Sevinç S, Tunçbilek E.
A multidisciplinary approach to the management of individuals with fragile X syndrome.
J Intellect Disabil Res. 2007;51(Pt 2):151-61. PubMed abstract

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