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 : 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 Genetic counselling 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,
PubMed Health: Fragile X syndrome,
Persatuan Penyakit Jarang Jumpa Malaysia
(Malaysian Rare Disorders Society)
X Disease