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Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders. Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama. Fragile X Associated Disorders. FXS – Fragile X Syndrome

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fragile what an overview of fragile x syndrome and its associated disorders

Fragile What? –An Overview of Fragile X Syndrome and its Associated Disorders

Matt RhodesParent Contact - LINKS LeaderFragile X Association of Alabama

fragile x associated disorders

Fragile X Associated Disorders

FXS –

Fragile X Syndrome

FXTAS – Fragile X-Associated Tremor Ataxia Syndrome

FXPOI –

Fragile X-Associated Primary Ovarian Insufficiency

fragile x syndrome
Fragile X Syndrome
  • The world’s leading cause of inherited mental impairment
  • Symptoms ranging from learning problems to mental impairment and autism
  • Can be accurately diagnosed with a simple blood test or DNA
prevalence
Prevalence
  • Affects 1 in 3,600 males & 1 in 4,000- 6,000 females
  • 1 in 260 women are carriers
  • 1 in 800 men are carriers
  • Fragile X appears in all socioeconomic background
  • In Alabama, carriers and full mutations are estimated at 15,978
slide7
Second only to Down’s Syndrome as a genetic cause of mental retardation
  • Unlike Down’s Syndrome, maternal age is not a factor
slide8
The most common known cause of autism
  • About 30% of individuals with Fragile X Syndrome have autism
  • 2-6% of individuals with autism have Fragile X Syndrome
slide11

Parents – X’s and Y’s

Father

Mother

Father

Mother

X Y

XX

X Y

XX

Son

Daughter

XY

XX

slide12

Woman with a premutation

on one of her two X chromosomes

Her egg cells

Egg cell

without

a fragile X

mutation

Egg cell

with

a fragile X

mutation

Plus

father’s X

Plus

father’s X

Plus

father’s Y

Plus

father’s Y

Girl with out fragile X mutation

Girl with fragile X mutation

Boy with out fragile X mutation

Boy with fragile X mutation

slide13

Man with a premutation

on his one X chromosome

His sperm cells

Sperm cell

without

a Y sex chromosome

Sperm cell

with

a fragile X

mutation

Plus

Mother’s X

Plus

Mother’s X

Boy with out fragile X mutation

Girl with premutated carrier

both males and females can have fragile x syndrome
BOYS

Approximately 85% of boys with F.M. have cognitive defects in the MR range (below 70)

The production of FMR1 protein is usually shut down

GIRLS

Approximately 70% of girls with F.M. have cognitive defects in borderline to M.R. range (below 70)

Girls with more protein-producing cells tend to have higher IQs

Both Males and Females Can Have Fragile X Syndrome
slide16

1

2

3

4

5

6

Father

XY

Mother

XX

CGG

Repeats

INCREASING

Pre-mutated Male

XY

Pre-mutated Female

XX

Unaffected Female

XX

XY

XY

XX

XY

Unaffected

Unaffected

Unaffected

XY

XX

XX

X – Pre-mutation

X – Full Mutation

XX

XX

physical characteristics
Physical Characteristics
  • Large ears
  • Long, narrow face
  • Prominent forehead
  • Prominent, square chin
  • High palate (roof of mouth)
  • Hand calluses
  • Mitral valve prolapse (a leaky heart valve)
  • Seizures
  • Eye problems
physical characteristics often seen in young children
Physical Characteristics Often Seen in Young Children:
  • Numerous ear infections
  • Flat feet
  • Hyper extensible joints
  • Eye problems in 20%-25%:
    • Refractive errors
    • Strabismus
    • Astigmatisms
  • Seizures
  • Missing developmental milestones
common difficulties
Common Difficulties
  • Sleeping
  • Toilet training
  • Socialization
  • Play (spinning objects, play with exclusive toy, or part of toy)
cognitive
Cognitive
  • The Fragile X mutation affects brain development and leads to a range of cognitive delays.
  • Developmental delays
  • Mental impairment
  • Learning disabilities
difficulties with frontal lobe functions executive functions
Difficulties with frontal lobe functions(“executive” functions)
  • Organization of information
  • Acting on that information in an effective manner
  • Focusing attention
  • Forming a plan and carrying it out
behavior
Behavior
  • Attention deficits
  • Hyperactivity
  • Impulsivity
  • Autistic-like behaviors
    • Repetitive behaviors
    • Hand flapping
    • Hand biting
    • Gaze aversion
  • Extreme anxiety, shyness
  • Transition problems, difficulty adjusting to change
cognitive behavioral strengths
Cognitive/ Behavioral Strengths
  • Strong visual memory
  • Long term memory
  • Good verbal imitative skills
  • Desire to be social
  • Strong appreciation of humor
  • Often receptive to helping or working cooperatively
speech and language characteristics
Speech and Language Characteristics
  • Delayed speech
  • Problems with intelligibility
  • Rapid, repetitive speech (perseveration)
  • Echolalia
  • Poor conversation skills
  • Good verbal imitative skills
sensory processing characteristics
Sensory Processing Characteristics
  • Tactile defensiveness
  • Visual defensiveness
  • Olfactory defensiveness
  • Oral defensiveness
  • Gravitational/ postural insecurity
sensory processing often seen in infants and young children
Sensory processing often seen in infants and young children
  • Excessive mouthing and drooling
  • Mouth stuffing
  • “picky” eaters
  • Difficult to calm and comfort
  • Over sensitivity to sounds
gross motor characteristics
Gross Motor Characteristics
  • Low muscle tone
  • Delays in gross motor skills
  • Uncoordinated, clumsy
fine motor characteristics
Fine Motor Characteristics
  • Low muscle tone
  • Hyper extensible finger joints
  • Difficulties with fine motor joints
    • Self feeding
    • Dressing
    • handwriting
characteristics often seen in females with fx
Characteristics Often Seen in Females With FX
  • Attention deficits
  • Shyness and anxiety
  • Selective mutism
  • Problems with math
  • Increased risk for mental health issues such as depression, bipolar disorder, and obsessive compulsive disorder
  • 25% premature ovarian failure (early menopause)
early preschool interventions
Early/ Preschool Interventions
  • Speech and language therapy
  • Occupational therapy
  • Occasional physical therapy
  • Settings with consistency, structure and routine
  • Total communication program
  • Simultaneous not sequential
  • Visual learners
  • Incidental learners
interventions strategies
Interventions Strategies

Sensory-based Strategies

Sensory Diets

Self-Regulation

Routines-based Strategies

Maintain schedules

Maintain routines

Maintain Structure

Language-based Strategies

Side Dialogues/Self Talk (Incidental Learning)

Social Stories

Video Modeling

managing hyperarousal
Managing Hyperarousal

Nervous system over stimulated

Evokes fear/flight responses

Anxiety can lead to hyperarousal

Use calming, coping and comfort to help self-regulation

Manage environment

reducing anxiety
Reducing Anxiety

Beginning and ending clearly defined

Picture schedules

Calm environment

Maintaining schedule

elementary school interventions
Elementary School Interventions
  • Intervention services
    • Speech therapy
    • Occupational therapy
    • Extracurricular (sports, scouts, dance, martial arts)
  • Classroom options
    • Full inclusion with support
    • Mainstreaming
    • Self-contained programs
slide37
Structure Needs
    • Predictable routines, rules and expectations
    • Consistent physical layout of classroom
    • Minimize auditory distractions
  • Teaching strategies
    • Picture schedule
    • Visual communications system (PECS)
    • Augmentative communication
    • computers
middle high school interventions
Middle/ High School Interventions
  • Continue therapies if appropriate
  • Relevant and functional reading and learning experiences
  • Social skills training
  • Introduce pre-vocational opportunities
  • Recreational/ extracurricular
    • (Special Olympics, choirs, other musical venues)
adult opportunities
Adult Opportunities
  • Employment
  • Independent living options
  • Socialization and adult relationships
  • Recreation
suggested recreational opportunities
Trampolines

Bicycling

Swimming

Bowling

Soccer

Gym/Fitness Center

Softball

Martial Arts

Scouts

Choirs or other musical venues

Special Olympics

Challenger sports

Suggested Recreational Opportunities
medications
Attention-related problems

Hyperactivity/ impulsivity

Mood disorders/ depression

Anxiety/ panic

Aggression

Obsessive/ compulsive symptoms

Bedwetting

Sleep disorders

Seizures

Self injury

Medications
slide42

FXTAS Symptoms and Diagnosis

  • FXTAS usually develops between the ages of 50-80. Symptoms that family members may notice, but often attribute to aging, include:
  • "Intention" tremors -- shaking that often occurs when reaching for or pouring something
  • Balance problems (ataxia) that cause falling or instability while walking
  • Numbness in the extremities (neuropathy)
  • Mood instability, irritability, and other changes in personality
  • Short-term memory loss and gradual intellectual declineThe diagnosis is based on 3 factors:1) Positive carrier testing for the FMR1 premutation,2) A neurological exam that affirms the above characteristics, and3) Magnetic Resonance Imaging (MRI) findings that are known to be related to FXTAS, including white matter changes or decreased size of the brain.
fxpoi
FXPOI
  • FXPOI: Fragile X-Associated Primary Ovarian Insufficiency
  • Affects female pre-mutation carriers (55-200 CGG repeats)
  • Female with the full mutation do not appear to be at risk
slide44

FXPOI Symptoms and Diagnosis

  • FXPOI causes decreased ovarian function
  • 23% experience early menopause (prior to age 40)
  • 20-28% experience ovarian insufficiency
  • many experience decreased fertility
  • many women with pre-mutations are able to conceive
  • decreased ovarian function is detectable by blood tests that measure specific hormones, particularly FSH .
slide47

Fragile X Advocacy Day

March 3, 2010 in Washington, D.C.

slide48

The National Fragile X Foundation

P.O. Box 190488

San Francisco, CA 94119-0048

800-688-8765

www.FragileX.org

Email: NATLFX@FragileX.org

slide49

Fragile X Association of Alabama

  • Matt Rhodes
  • 2710 Wellington Circle
  • Pelham, AL 35124
  • www.fxalabma.org
  • Email: mattr@fxalabama.org
slide50

The National Fragile X Foundation

Serving the Fragile X community since 1984