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FRAGILE X SYNDROME (FXS)

FRAGILE X SYNDROME (FXS). BY NOOR ADILAH ZULKIFLI, NURUL JAWAHIR ZOHDI. What is Fragile X Syndrome (FXS)?. Inherited disease cause of mental retardation X-linked disease Incidence of 1:4500 males, 1:9000 females Premutation carrier 1:1000 males, 1:400 females

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FRAGILE X SYNDROME (FXS)

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  1. FRAGILE X SYNDROME (FXS) BY NOOR ADILAH ZULKIFLI, NURUL JAWAHIR ZOHDI

  2. What is Fragile X Syndrome (FXS)? • Inherited disease cause of mental retardation • X-linked disease • Incidence of 1:4500 males, 1:9000 females • Premutation carrier 1:1000 males, 1:400 females • Fragile X Tremor/Ataxia Syndrome (FXTAS) • Fragile X Premature Ovarian Insufficiency (FXPOI)

  3. Causes 1) Genetic changes • Mutation of Fragile X Mental Retardation One (FMR-1) gene on X chromosome. • This gene could not produce protein which is necessary for brain development. • Most commonly an increased in the number of CGG trinucleotide repeats. • Typical : 6-44 repeats Premutation : 55-200 repeats Full mutation : > 200 repeats 2) Environmental factor

  4. Signs and symptoms • Large prominent ears and a long face • Intellectual disability • Speech and language delay • Behavioral issues such as hyperactivity, temper tantrums and hand flapping • Emotional problems • ADHD • Macroorchidism

  5. Signs and symptoms in the premutation carrier • Mild intellectual disability • Shy personality and selective lack of speech

  6. Autism and FXS • Autism -- characterized by impaired social interaction and communication, and by restricted and repetitive behavior. • Autismbehavioral diagnosis • FXSgenetic diagnosis • 15-33% of FXS children have autism • 2-6% of children with autism is diagnosed with FSX

  7. Diagnosis • DNA test • Prenatal testing • Amniocentesis • Chorionic villus sampling • Genetic counselling

  8. Treatment • Currently no known cure • Special education services • Special X Clinics • Therapy • Drugs • Stimulants • Antipsychotics

  9. Reference • National Fragile X Foundation, www.fragilex.org • Wikipedia: Fragile X syndrome, http://en.wikipedia.org/wiki/Fragile_X_syndrome • PubMed Health: Fragile X syndrome,http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002633/ • PersatuanPenyakitJarangJumpa Malaysia (Malaysian Rare Disorders Society) • http://www.rightdiagnosis.com/f/fragile_x_syndrome/stats-country.htm#extrapwarning • http://www.who.int/genomics/public/geneticdiseases/en/index2.html#Fragile X Disease

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