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Fragile X Syndrome (Fxs)

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Fragile X Syndrome (Fxs) N F X F S P E C I A L T O P I C S B R O C H U R E N F X F S P E C I A L T O P I C S B R O C H U R E FRAGILE X SYNDROME ABOUT THE NFXF (FXS) I N H E R I TANCE OF FXS TESTING FOR FRAGILE X The National Fragile X Foundation (NFXF) was The FMR1 gene is on the X chromosome. Males Any individual who has unexplained develop- founded in 1984 to support individuals with fragile X An Overview for have one X and one Y chromosome; females mental disabilities, speech delay, ADHD, autism or syndrome (FXS), their families, and the professionals have two X chromosomes. In females with a full learning disabilities should be tested for Fragile X. who work with them. Today, it is a comprehensive Families and Providers mutation, their other, normal X often compensates resource not only for FXS, but also the more recently for the FMR1 mutation. That frequently results discovered conditions of fragile X-associated in milder symptoms of FXS. In males the Y tremor/ataxia syndrome (FXTAS) and fragile X- chromosome cannot compensate for the effects associated primary ovarian insufficiency (FXPOI). of the Fragile X mutation. The organization offers a toll-free phone line and Both males and females can be FMR1 carriers email support; education through an extensive web- and can pass the premutation on to their children. site, regular electronic news and other publications. Male premutation carriers will pass the It also organizes international conferences, funds premutation on to all their daughters and scientific research, and leads legislative advocacy none of their sons. efforts in Washington, DC. Only premutations carried by women expand to the full mutation that causes fragile X syndrome Special thanks for assistance on this brochure to: in their children. Female premutation carriers Liane Abrams, MS, CGC The Fragile X test, also called the FMR1 DNA have a 50 percent chance in each pregnancy to Additional copies available free of charge. test, is not the same as a chromosome analysis or pass the premutation to their children of either microarray, which examine all 46 chromosomes. The NFXF helps coordinate a nationwide network gender. The risk of a premutation to expand to However, a provider may order a number of of clinics and parent support groups (LINKS) for a full mutation is dependent on its number of tests in a child who exhibits unexplained delays families impacted by Fragile X. For more information CGG repeats. in development. The test can be ordered by any on this and other topics related to Fragile X, email: health care provider, including genetic counselors [email protected] or log on to: www.fragilex.org. or physicians. Genetic counseling is recommended for any individual or relative of someone who has a positive test result, or a relative diagnosed with any of the Fragile X-associated Disorders. A physician can refer you to a local genetic counselor or you can find one at www.nsgc.org. The National Fragile X Foundation can also assist you—call 1-800-688-8765. For more information about testing, visit www.fragilex.org/testing. 1-800-688-8765 1615 Bonanza St., Suite 202 Walnut Creek, CA 94596 www.fragilex.org Find us on Facebook.com/natlfragilex Federal Tax ID# 84-0960471 w w w . f r a g i l e x . o r g Printed on 10% post-consumer waste and 30% recycled paper 2-13 F R A G I L E X S Y N D R O M E : A N O V E R V I E W F O R F A M I L I E S A N D P R O V I D E R S CHARACTERISTICS OF I N T E RVENTIONS AND TREATMENTS F R AGILE X SYNDROME Research and clinical experience have shown that Adolescents and adults with FXS also benefit from O V E RV I E W The following physical, cognitive and behavioral children with FXS may benefit from the following educational opportunities that help them acquire Fragile X is a family of conditions associated with characteristics of fragile X syndrome are usually more treatments and interventions: appropriate life skills. These programs can begin changes in the Fragile X gene. The gene (also evident in males, but females can also demonstrate a in high school and extend into adulthood, and Early intervention such as infant development known by its scientific name of “FMR1”) can be range of features. For more information on females therapy and special needs preschool should include education and guidance in matters normal, or it can exhibit a “premutation” or a with FXS, see the NFXF website: www.fragilex.org. of employment, social activity, recreation, Speech and occupational therapy, particularly “full mutation.” When a premutation or full sensory integration independent living, and sexuality. mutation is present, it can result in one of the Physical features can include: Behavioral therapies Fragile X-associated Disorders (FXD). These Large/protruding ears Special education (though many children with include: Soft skin FXS are able to be “fully included” in an age- Flexible joints—particularly fingers, wrists, elbows Fragile X syndrome (FXS): An inherited condi- appropriate classroom) tion affecting intellectual, behavioral and social Low muscle tone Medications for symptom-specific issues such Flat feet development. It occurs in both males and females as anxiety, ADHD, seizures, etc. who have a full mutation of the FMR1 gene. Long face, large testicles (at puberty) Fragile X Clinic referral for consultation regarding Seizure disorder (epilepsy) Fragile X-associated tremor/ataxia syndrome educational and therapuetic strategies ( F X TA S ) : An adult onset (over 50 years of age) Behavioral, intellectual and social characteristics n e u rological condition, more common and more may include: s e v e r e in males. It causes tremors, memory and TODDLERS/CHILDREN balance problems in those with a premutation Speech and language delay of the FMR1 gene. (Both males and females Motor delay (late crawling, walking, toileting) who have a premutation are also re f e rred to as Tactile defensiveness and sensory overload “ c a r r i e r s . ” ) (high sensitivity to various fabrics/clothing, Fragile X-associated primary ovarian loud noises, crowds, food textures & tastes, etc.) insufficiency (FXPOI): A condition affecting Hand-flapping, hand-biting ovarian function that can lead to infertility and Poor eye contact/gaze aversion early menopause in some female carriers. Autism spectrum disorders ADHD (attention deficit/hyperactive disorder) THE FMR1 GENE The FMR1 gene can undergo changes which cause ADOLESCENTS/ADULTS these fragile X-associated conditions. These Difficulties may include: changes affect a pattern of DNA called CGG Managing transitions to new schools or employment repeats. Typically, the FMR1 gene has up to 54 Learning adult living skills such as transportation CGG repeats. A premutation in the FMR1 gene and using money results in 55–200 CGG repeats, and a full Managing emotional upsets and aggression mutation in more than 200 CGG repeats. Making and sustaining friendships w w w . f r a g i l e x . o r g.
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