1. Kelsey Sokol

2.  Most commonly inherited cause of mental
impairment
 1 in 3600 males and 1 in 4000 to 6000 females are
affected
 Caused by mutated FMR1 gene on the X
chromosome
 Gene discovered in 1991
 No cure but certain therapies can help

3.  Intellectual disability
 Significant in the majority
 Learning disability to mental retardation to autism
 Usually strengths and weaknesses
 Good memories for pictures and visual patterns
 Learn in simultaneous fashion instead of sequential
 Can be hard to teach reading
 Speak in rapid bursts, repeat words or perservation
 Physical features
 Large ears
 Long face with prominent chin

4.  Connective tissue
 Flat feet
 Ear infections
 Double jointed
 Behavioral
 ADD/ADHD
 Mood swings and temper tantrums
 Speech disorders
 Poor eye contact
 Extreme hypersensitivity to environment
 Strange responses to visual/auditory stimuli and touch
 Very friendly and social

5.  Intellectual disability
 usually milder than in males
 Significant disability seen in around 1/3 of females
 Many are disabled in math but excel in reading and spelling
 1/3 have symptoms like schizophrenia
 Ex: prefer social isolation
 Physical and behavioral problems
 Same as in males but usually milder

6.  Fragile X Mental Retardation 1 (FMR1) gene on
the end of the X chromosome
 Normally about 30 repeats of CGG
 Premutation: 55-200 repeats
 Full mutation: more than 200 repeats

7.  Encodes for fragile x mental retardation 1 protein
 Protein appears in many tissues and throughout
the brain
 Role in synapse development and neuroplasticity,
assisting in learning and memory
 Shuttles mRNA in cell between nucleus and protein
assembly areas
 Helps control when mRNA is used to build proteins
 May be found in lungs, kidneys, liver, and spinal
chord but other proteins called FXR1 and FXR2
may compensate here
 Exact role is still unknown

8.  Do not show typical signs
 Most are intellectually normal with mild physical
features
 May have some emotional problems
 Can cause other health related problems
 Can have affected children

9.  Because of repetitions of CGG, gene become very
unstable
 Under microscope it looks broken or fragile
 Gene is silenced – no protein is made
 Results in full onset of effects

10.  From the father:
 Can only pass chromosome on
to daughter
 Will only cause premutation in
daughter, even if he has the full
mutation
 From the mother:
 Can pass chromosome to either
son or daughter
 Can expand from premutation
chromosome to fully mutated
chromosome (chance of this
occurring increases with each
generation)

11.  Women
 have 2 X chromosomes
 Only 1 is active in each cell because of X inactivation
– it’s a coin toss and can differ between cells
 If they inherit 1 mutated X and 1 normal X, cells have
a 50/50 chance of being affected
 Different ratios of affected to unaffected cells in the
brain create varying degrees of Fragile X symptoms

12.  Men
 have 1 X chromosome and 1 Y chromosome
 All cells use same X chromosome
 If mother passed on mutated X, all cells will show
mutation
 If mother passed on premutated X, cells could show
mutation if it becomes full mutation
 If mother passed on normal X, no cells will show
mutation

13.  There is no cure, only treatment.
 Research is actively being conducted.
 Educational options
 Therapeutic options
 Medication options

14.  Parents, teachers, and psychologists can develop
an Individualized Education Plan (IEP)
 Placement depends on severity of Fragile X
 Generally three options:
 Full inclusion in a regular classroom.
 Inclusion with "pull-out" services
 Full-time, special education classroom

15.  Speech-language therapists
 Improve pronunciation, slow down speech, etc
 Occupational therapists
 Help with tasks, daily activities, and career choice
 Physical therapists
 Motor control
 Behavioral therapists
 Identify distressing situations and help to prevent and
cope with them

16.  Treat symptoms
 Some have serious risks
 Examples:
 Ritalin for ADD
 Prozac for aggression
 Melatonin for sleep disturbances
 Lithium carbonate for mood instability

17.  Caused by FMR1 gene mutation
 No artificial protein to replace FMR1 protein
 Most commonly inherited cause of mental
retardation