Fragile X Syndrome

Description

Other Names

FXS

ICD-9

759.83, Fragile X syndrome

See Fragile X ICD9 (PDF Document 45 KB) for associated condition codes.

Description

Fragile X syndrome (FXS), caused by a mutation of the FMR1 gene of the X chromosome, is the most common form of inherited intellectual disability. The FXS phenotype is usually more apparent in males than in females. The following phenotypic descriptions are from FMR-1-related disorders (GeneReviews).

The classic phenotype of FXS in males includes:
  • intellectual disability, with an average IQ of 50 and a range of 25-90, with most under 70 [Alanay: 2007];
  • behavioral features similar to those seen in autism
  • macrocephaly
  • characteristic facies including long narrow face with prominent chin, tall forehead, flat nasal bridge, and large pinnae (these features may be subtle)
  • flexible finger joints and flat feet
  • postpubertal macroorchidism
Females with fragile X generally have milder manifestations, although they may have:
  • some similar physical features, particularly large or prominent ears, flexible finger joints, and flat feet
  • learning problems in the majority
  • short attention span
  • moodiness, shyness, anxiety
  • intellectual disability in 30%
The phenotypes of FXS are not always clinically distinct and the classic facial appearance, even in males with the full mutation, is subtle, especially in early childhood. Testing for the FMR1 gene mutation is recommended in boys and girls with developmental delay/intellectual disability and/or autistic features, especially if they also have any phenotypic features or relatives with FXS or undiagnosed mental retardation (see Fragile X Testing (GeneTests)). Also see the practice parameter for evaluation of the child with global developmental delay, published in 2003 – [Shevell: 2003].

Prevalence

The prevalence of FXS is between 1 in 5161 males [Coffee: 2009], and may be as high as 1 in 2,500 males in African-derived populations. Prevalence in females is unknown, but is estimated to be between 1 in 8,000 and 1 in 9,000. [Crawford: 2001] Female carriers are thought to be very common; with a range from 1 in 100 to 1 in 250. See FMR-1-related disorders (GeneReviews).

Genetics

FXS is due to a mutation on the X chromosome which, in the full-blown syndrome, inactivates the FMR-1 gene, stopping production of the FMR-1 protein (FMRP).
  • The mutation involves an expansion of a CGG sequence repeat in an untranslated region of the FMR-1 gene.
  • FMR-1 related disorders include adult onset fragile X-associated tremor/ataxia syndrome (FXTAS) and FMR1-related premature ovarian insufficiency in premutation carriers. These disorders may result from elevated mRNA levels in premutation carriers. [Hagerman: 2004]
  • Prenatal testing – amniocentesis and chorionic villus sampling (CVS) – is available for mothers who are confirmed premutation carriers. Determining the methylation pattern of the gene may be impossible in cells obtained by CVS, making the distinction between large premutations and smaller full mutations difficult and limiting the potential for clinical correlation. Follow-up amniocentesis is recommended after CVS.
See the Genetics of Fragile X Syndrome Issue page for more information.

Prognosis

Life expectancy is normal. Clinical features vary widely in children with FXS and adult functioning will depend on IQ and the presence or absence of autistic behaviors.

Roles Of The Medical Home

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 Diagnosis Modules.
  • referring and 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.

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

Finucane B, Abrams L, Cronister A, Archibald AD, Bennett RL, McConkie-Rosell A.
Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.
J Genet Couns. 2012;21(6):752-60. PubMed abstract

Helpful Articles

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

Moeschler JB.
Genetic evaluation of intellectual disabilities.
Semin Pediatr Neurol. 2008;15(1):2-9. 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.

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

Clinical Assessment

Overview

Consider the diagnosis of fragile X syndrome (FXS) for all male patients with developmental delay/intellectual disability and a normal-sized or large head. This diagnosis is even more likely if the child has autistic features or relatives with intellectual disability, autistic features, or physical features of FXS. Also ask about female relatives with premature ovarian insufficiency (problems with infertility, irregular periods, or menopausal symptoms before 40, such as hot flashes) and older relatives with Parkinson-like symptoms that might have fragile X-associated tremor/ataxia syndrome (FXTAS). Note that younger children are not as likely as older children to display the classic physical features of the syndrome. The diagnosis of most children with FXS is delayed from 6 to 12 months past the time parents first express their concerns. In some cases, this delay does not allow parents to make informed decisions about having more children. [Bailey: 2002] [CDC: 2002]

Screening

Women with a family history of fragile X-related disorders, unexplained developmental delay/intellectual disability, autism, or premature ovarian insufficiency should receive genetic counseling and fragile X premutation carrier screening as needed.

Of Family Members

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.

Differential Diagnosis

Because the facial features of children with FXS may be very non-specific, a presumptive diagnosis should be avoided. Similar facial features can be seen in Sotos syndrome and other conditions of overgrowth, and early clinical features of FXS may be similar to those seen in children with autism spectrum disorders or Prader-Willi syndrome. Genetic testing will confirm a presumptive diagnosis of FXS. See also the Diagnosis Module on Intellectual Disability.

Pearls & Alerts

Retesting may be indicated for individuals who test negative on cytogenetic analysis

Molecular genetic testing is more accurate than the cytogenetic analysis. Individuals with a negative cytogenetic analysis but with suspicious findings should be retested using molecular methodology (see Genetic Testing below).

Autism diagnosis in FXS

Approximately 30% of boys with FXS meet formal criteria for autism from the DSM IV. [American: 2000]. [Hatton: 2002]

Prader-Willi phenotype of FXS

Rarely, children with the Prader-Willi phenotype, e.g. hyperphagia and obesity occurring in early childhood, are negative for the 15q11 abnormalities seen in PWS and have FXS.

History & Examination

The features of FXS are subtle in young children, may vary considerably, and often change with puberty. Because none of the features are specific for this syndrome, diagnosis should be based on genetic testing. See Pictures of children with FXS.
Ongoing management of the child with FXS will involve routine well child care, as well as specialized surveillance for problems associated with FXS.

Family History

Ask about a family history of intellectual disability (with or without a specific diagnosis), FXS, and/or autistic spectrum disorder. Individuals with premature ovarian insufficiency (menopause-like symptoms before the age of 40, frequent missed or absent periods, infertility) or older adults with progressive tremor and balance problems (fragile X-associated tremor/ataxia syndrome - FXTAS). See Premature ovarian insufficiency (National Fragile X Foundation) and FXTAS (National Fragile X Foundation) for more information.

Pregnancy Or Perinatal History

No problems are associated with FXS. As premature ovarian insufficiency has been observed in premutation carrier females (approximately 21%), also ask about frequent missed periods, difficulty getting pregnant, and menopause-like symptoms including hot flashes and vaginal dryness.

Current & Past Medical History

Ask about chronic ear infections, seizures, feeding problems, and gastroesophageal reflux. Evidence of hearing or visual deficits should be sought.

Developmental & Educational Progress

Language and mild gross motor delays are typical in children with FXS. Behavior problems, hyperactivity, tantrums, and autistic behaviors may also lead to suspicion of FXS. 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).

Maturational Progress

Ask about macro-orchidism and psychosexual development in adolescents.

Social & Family Functioning

Females with FXS and males after puberty commonly exhibit shyness and lack of eye contact. Additionally, female full mutation carriers may demonstrate anxiety, and social and emotional immaturity. Children with FXS may have problems with behavior and aggression that can cause social and family stress. Ask about sibling interactions and attitudes/support of extended family.

Physical Exam

General

Before puberty, look for a long face, with a prominent chin and forehead, and large ears. After puberty, strabismus, low muscle tone, and large testicles may be present. See Clinical features in FXS for a graphic summary.

Growth Parameters

The head circumference will usually be greater than the 50th percentile.

HEENT

Look for evidence of chronic or acute ear infections and for strabismus. Ptosis should also be noted.

Heart

Look for signs of mitral valve prolapse (mitral click or regurgitant murmur) or aortic annular dilatation (regurgitant murmur).

Genitalia

Look for macro-orchidism in postpubertal males with FXS.

Extremities/Musculoskeletal

Look for club feet, flat feet, dislocated hips, and hyperextensible joints (due to connective tissue abnormalities).

Testing

Sensory Testing

Vision and hearing impairments are common in children with FXS, the latter possibly related to frequent ear infections. Testing for hearing impairment is important, as it may contribute to language delay. Refractive errors are frequent in children with FXS and referral for ophthalmologic exam should be triggered by an abnormal vision screen or suspicion of visual problems.

Imaging

Imaging: Although neuroradiologic abnormalities may be found in FXS (e.g., periventricular heteropia [Moro: 2006]), neither brain MRI examination nor other imaging is recommended routinely in the absence of an abnormal neurological examination.

EEG: Unless seizures are clinically present, EEGs are not recommended. Approximately 5% of girls and 15% of boys with FXS have seizures, generally in childhood. [Hagerman: 2009]

Genetic Testing

Testing for FXS is widely available, and molecular genetic testing is recommended - see Genetic testing algorithm for FXS (GeneReviews). Preauthorization from the patient's insurance company is often required to assure payment. See Fragile X Testing (GeneTests) for relevant laboratories and Fragile X Syndrome / High Resolution Chromosome Analysis - Letter of Medical Necessity (Medical Home Portal) (PDF Document 52 KB) for more information. The American College of Medical Genetics recommends FXS testing [Shevell: 2003] for individuals of either sex with mental retardation, developmental delay, or autism, especially if they have any of the following:
  • any physical or behavioral characteristics of fragile X syndrome
  • a family history of fragile X syndrome
  • male or female relatives with undiagnosed intellectual disability

Subspecialist Collaborations & Other Resources

Pediatric Genetics (see Services below for relevant providers)

A pediatric geneticist may be helpful in sorting out heritable causes of developmental delay, intellectual disability, or unusual facies. They may also help identify at-risk family members. Once the diagnosis is made, the families of children with FXS should receive genetic counseling and consideration of testing for other family members. Counseling may be obtained through a geneticist or by referral to a genetic counselor.

Pediatric Genetic Counseling (see Services below for relevant providers)

Genetic counselors can educate and advise regarding parental reproductive choices, testing of other family members, and accessing relevant services. Guidance regarding developmental issues and education strategies may also be provided.

Pediatric Cardiology (see Services below for relevant providers)

If a click or murmur is found, a visit to cardiology for an echocardiogram may be warranted. Antibiotic prophylaxis before dental or other procedures may be recommended depending on findings.

Pediatric Ophthalmology (see Services below for relevant providers)

Presence or suspicion of strabismus, visual deficit, ptosis, or nystagmus should trigger referral to a pediatric ophthalmologist.

Pediatric Orthopedics (see Services below for relevant providers)

Periodic screening for joint laxity may be helpful. Children with club feet and dislocated hips should be followed by a pediatric orthopedic surgeon.

Developmental Pediatrics (see Services below for relevant providers)

For developmental assessment and coordination of related services, such as PT, OT, and speech therapy.

Psychologist, Child-18 (see Services below for relevant providers)

Assessments may be helpful in guiding educational placement and approaches. Psychologists may also help manage behavior problems, such as aggression and attentional deficits.

Psychiatrist, Child-18 (see Services below for relevant providers)

Some children with fragile X syndrome will benefit from medication for behavior problems. Evaluation by a child psychiatrist should be considered.

Pediatric Neurology (see Services below for relevant providers)

!5-20% of children have seizures and may benefit from a visit to pediatric neurology.

Treatment & Management

Pearls & Alerts

Targeted treatments

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] and [Wijetunge: 2012] for more information.

Systems

Development (general)

Developmental delay/ntellectual disability 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 & 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 & Other Resources

Pediatric 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.

Pediatric Genetic Counseling (see Services below for relevant providers)

For counseling for the family in regard to prognosis, family planning, support, etc.

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 Special Education Processes in the Portal's Education Section.

Subspecialist Collaborations & Other Resources

Learning Evaluations, Counseling (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].

Subspecialist Collaborations & 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.

Psychiatrist, Child-18 (see Services below for relevant providers)

For medical treatment of behavior problems and mood disorders.

Psychologist, Child-18 (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 Seizures/Epilepsy for more information on seizure treatment.

Subspecialist Collaborations & 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 & 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 & Other Resources

Pediatric Ophthalmology (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 & Other Resources

Pediatric 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 Transition to Adulthood of the Portal.

Frequently Asked Questions

I have been told that my child has fragile X syndrome (FXS), but he has no signs of autism. Could the doctors be wrong?

Only about 30% of children with fragile X syndrome exhibit significant autistic behaviors, so it is very possible for a child to have fragile X syndrome and not be autistic. Autistic behaviors include poor eye contact, hand-flapping, self-injurious behavior, and poor sensory skills.

Why am I being tested for fragile X syndrome - it is my son who has the disorder?

Extended family members of individuals with FXS may have related disorders, including social problems, learning disabilities, premature ovarian failure, and fragile X-associated trem/ataxia syndrome, depending on gene status. Screening is sometimes done on extended family members to provide proactive care for problems that may arise as well as to give genetic counselors more information so that they may better counsel a family regarding recurrence risk.

My first child has FXS. What are the chances that my next child will also have it?

The answer to this question is complicated. FXS occurs when there is an expansion of the genetic material in a specific place on the X chromosome. The chances of having another child with FXS increase if the mother has a larger expansion, and can be as high as 50% if the child is male. This should be discussed with your doctor or genetic counselor as the risks can be better estimated with more information about the mother's genetic material. Prenatal testing for FXS is available.

Issues Related to Fragile X Syndrome

Resources

Information for Clinicians

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

Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. Includes health supervision guidelines and other useful resources; a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.

Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. Includes health supervision guidelines and other useful resources; a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.

Helpful Articles

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

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

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

Moeschler JB.
Genetic evaluation of intellectual disabilities.
Semin Pediatr Neurol. 2008;15(1):2-9. 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.

Clinical Tools

Patient Education & Instructions

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 Institutes of Health.

Toolkits

Healthcare for Adults with Intellectual & Developmental Disabilities - Toolkit for Primary Care Providers (Vanderbilt)
Online compilation of knowledge resources, checklists, "Health Watch Tables" for autism, Down syndrome, fragile X, Prader-Willi, Williams syndrome, and 22q11.2 deletion syndrome, and other resources to support the adult primary care (and transition thereto) of individuals with developmental and intellectual disabilities; from the Vanderbilt Kennedy Center for Excellence in Developmental Disabilities.

Information & Support for Families

Family Diagnosis Page

Support National & Local

FRAXA - The Fragile X Research Association
Information from FRAXA regarding the diagnosis of and research in fragile X syndrome

National Fragile X Foundation
A non-profit organization run by parents of children with fragile X syndrome. This organization supports research into finding a cure for fragile X syndrome and supports families with children with fragile X syndrome.

Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. Includes health supervision guidelines and other useful resources; a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.

Studies/Registries

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.

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

Services for Patients & Families

Services for Fragile X syndrome:

Behavioral Programs

See all Behavioral Programs services providers (31) in our database.

Developmental Pediatrics

See all Developmental Pediatrics services providers (5) in our database.

Early Intervention Programs

See all Early Intervention Programs services providers (52) in our database.

Genetics, Prenatal

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

Learning Evaluations, Counseling

See all Learning Evaluations, Counseling services providers (12) in our database.

Pediatric Cardiology

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

Pediatric Genetic Counseling

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

Pediatric Genetics

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

Pediatric Neurology

See all Pediatric Neurology services providers (10) in our database.

Pediatric Ophthalmology

See all Pediatric Ophthalmology services providers (8) in our database.

Pediatric Orthopedics

See all Pediatric Orthopedics services providers (18) in our database.

Pediatric Physical Medicine & Rehab

See all Pediatric Physical Medicine & Rehab services providers (8) in our database.

Psychiatrist, Child-18

See all Psychiatrist, Child-18 services providers (28) in our database.

Psychologist, Child-18

See all Psychologist, Child-18 services providers (151) in our database.

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

Authors

Authors: Karin Dent, MS, CGC - 4/2013
Lynne M Kerr, MD, PhD - 4/2013
Content Last Updated: 5/2013

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

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.

American Psychiatric Association.
DSM-IV-TR Diagnostic and Statistical Manual of Mental Disorders.
Fourth Edition ed. Washington, D.C.: American Psychiatric Association; 2000.

Bailey, DB, Skinner, D, Sparkman, K, .
Delayed diagnosis of fragile X syndrome: United States 1990-1999.
(2002) http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5133a3.htm.

CDC.
Delayed diagnosis of fragile X syndrome--United States, 1990-1999.
MMWR Morb Mortal Wkly Rep. 2002;51(33):740-2. PubMed abstract

Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, Warren ST.
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.
Am J Hum Genet. 2009;85(4):503-14. PubMed abstract / Full Text

Crawford, DC.
FMR1 and the Fragile X Syndrome.
CDC: National Office of Public Health Genomics; HuGENet: Fact Sheets; (2001) http://www.cdc.gov/genomics/resources/books/HuGE/chap23.htm. Accessed on 1/3/2009.

Finucane B, Abrams L, Cronister A, Archibald AD, Bennett RL, McConkie-Rosell A.
Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.
J Genet Couns. 2012;21(6):752-60. PubMed abstract

Hagerman PJ, Hagerman RJ.
The fragile-X premutation: a maturing perspective.
Am J Hum Genet. 2004;74(5):805-16. 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

Hatton DD, Hooper SR, Bailey DB, Skinner ML, Sullivan KM, Wheeler A.
Problem behavior in boys with fragile X syndrome.
Am J Med Genet. 2002;108(2):105-16. PubMed abstract

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

Moeschler JB.
Genetic evaluation of intellectual disabilities.
Semin Pediatr Neurol. 2008;15(1):2-9. PubMed abstract

Moro F, Pisano T, Bernardina BD, Polli R, Murgia A, Zoccante L, Darra F, Battaglia A, Pramparo T, Zuffardi O, Guerrini R.
Periventricular heterotopia in fragile X syndrome.
Neurology. 2006;67(4):713-5. 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

Shevell M, Ashwal S, Donley D, Flint J, Gingold M, Hirtz D, Majnemer A, Noetzel M, Sheth RD.
Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society.
Neurology. 2003;60(3):367-80. PubMed abstract / Full Text

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.

Wijetunge LS, Chattarji S, Wyllie DJ, Kind PC.
Fragile X syndrome: From targets to treatments.
Neuropharmacology. 2012. PubMed abstract