fragile what? – an overview of fragile x syndrome and its associated disorders matt rhodes parent...

50
Fragile What? An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Upload: brice-tate

Post on 23-Dec-2015

221 views

Category:

Documents


0 download

TRANSCRIPT

Page 1: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

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

Matt RhodesParent Contact - LINKS LeaderFragile X Association of Alabama

Page 2: 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 DisordersFXS –

Fragile X Syndrome

FXTAS – Fragile X-Associated Tremor Ataxia Syndrome

FXPOI –Fragile X-Associated Primary Ovarian Insufficiency

Page 3: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

FXS DEFINITION

Page 4: 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 Syndrome

The world’s leading cause of inherited mental impairmentSymptoms ranging from learning problems to mental impairment and autismCan be accurately diagnosed with a simple blood test or DNA

Page 5: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

INCIDENCE

Page 6: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

PrevalenceAffects 1 in 3,600 males & 1 in 4,000- 6,000 females1 in 260 women are carriers1 in 800 men are carriersFragile X appears in all socioeconomic backgroundIn Alabama, carriers and full mutations are estimated at 15,978

Page 7: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Second only to Down’s Syndrome as a genetic cause of mental retardation

Unlike Down’s Syndrome, maternal age is not a factor

Page 8: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

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

Page 9: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

GENETICS

Page 10: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

SCAN in page 14

Page 11: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

X Y XX

Father Mother

X Y

Son

X Y XX

Father Mother

X X

Daughter

Parents – X’s and Y’s

Page 12: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Woman with a premutation on one of her two X chromosomes

Girl with out fragile X mutation

Girl with fragile X mutation

Plus father’s Y

Plus father’s Y

Plus father’s X Plus

father’s X

Egg cell without

a fragile X mutation

Egg cell with a fragile X mutation

Her egg cells

Boy with fragile X mutation

Boy with out fragile X mutation

Page 13: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Man with a premutation on his one X chromosome

Plus Mother’s X

Plus Mother’s X

Sperm cell without a Y sex

chromosome

Sperm cell with a fragile X mutation

His sperm cells

Boy with out fragile X mutation

Girl with premutated

carrier

Page 14: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Both Males and Females Can Have

Fragile X SyndromeBOYS

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

GIRLSApproximately 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

Page 15: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Category

CGG repeats

Methylation of FMR1

Female

Male

Stable 6 to ~45 unmethylated Not affected

Not affected

Gray zone

~45 to ~55 unmethylated Not affected

Not affected

Pre-mutation

~55 to ~200 unmethylated Usually not affected

Usually not affected

Full mutation

>200 Completely methylated ~50% affected

All affected

Direct DNA Analysis for the Fragile X

Mutation

Page 16: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

FatherXY

MotherXX

Pre-mutated MaleXY

Pre-mutated FemaleXX

Unaffected Female

XY XX XYXX XY

Unaffected Unaffected Unaffected

XY XX

XXXX

XX

1

2

3

4

5

6

CGGRepeats

INCREASINGX – Pre-mutation

X – Full Mutation

Page 17: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

CLINICAL FEATURES

Page 18: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Physical Characteristics

Large earsLong, narrow faceProminent foreheadProminent, square chinHigh palate (roof of mouth)Hand callusesMitral valve prolapse (a leaky heart valve)SeizuresEye problems

Page 19: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Physical Characteristics Often

Seen in Young Children:Numerous ear infections

Flat feetHyper extensible jointsEye problems in 20%-25%: Refractive errors Strabismus Astigmatisms

Seizures Missing developmental milestones

Page 20: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Common Difficulties

SleepingToilet trainingSocializationPlay (spinning objects, play with exclusive toy, or part of toy)

Page 21: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

CognitiveThe Fragile X mutation affects brain development and leads to a range of cognitive delays.

•Developmental delays

•Mental impairment

•Learning disabilities

Page 22: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Difficulties with frontal lobe functions

(“executive” functions)Organization of informationActing on that information in an effective mannerFocusing attentionForming a plan and carrying it out

Page 23: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

BehaviorAttention deficits HyperactivityImpulsivityAutistic-like behaviors Repetitive behaviors Hand flapping Hand biting Gaze aversion

Extreme anxiety, shynessTransition problems, difficulty adjusting to change

Page 24: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Cognitive/ Behavioral Strengths

Strong visual memoryLong term memoryGood verbal imitative skillsDesire to be socialStrong appreciation of humorOften receptive to helping or working cooperatively

Page 25: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Speech and Language

CharacteristicsDelayed speech Problems with intelligibilityRapid, repetitive speech (perseveration)EcholaliaPoor conversation skillsGood verbal imitative skills

Page 26: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Sensory Processing Characteristics

Tactile defensivenessVisual defensivenessOlfactory defensivenessOral defensivenessGravitational/ postural insecurity

Page 27: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Sensory processing often seen in infants and young childrenExcessive mouthing and droolingMouth stuffing“picky” eatersDifficult to calm and comfortOver sensitivity to sounds

Page 28: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Gross Motor Characteristics

Low muscle toneDelays in gross motor skillsUncoordinated, clumsy

Page 29: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Fine Motor Characteristics

Low muscle toneHyper extensible finger jointsDifficulties with fine motor jointsSelf feeding Dressinghandwriting

Page 30: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Characteristics Often Seen in

Females With FXAttention deficitsShyness and anxietySelective mutismProblems with mathIncreased risk for mental health issues such as depression, bipolar disorder, and obsessive compulsive disorder25% premature ovarian failure (early menopause)

Page 31: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

INTERVENTIONS

Page 32: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Early/ Preschool Interventions

Speech and language therapyOccupational therapyOccasional physical therapySettings with consistency, structure and routineTotal communication programSimultaneous not sequentialVisual learnersIncidental learners

Page 33: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

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

Page 34: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Managing Hyperarousal

Nervous system over stimulatedEvokes fear/flight responsesAnxiety can lead to hyperarousalUse calming, coping and comfort to help self-regulationManage environment

Page 35: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Reducing AnxietyBeginning and ending clearly definedPicture schedulesCalm environmentMaintaining schedule

Page 36: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

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

Page 37: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

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

Page 38: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Middle/ High School Interventions

Continue therapies if appropriateRelevant and functional reading and learning experiencesSocial skills trainingIntroduce pre-vocational opportunitiesRecreational/ extracurricular (Special Olympics, choirs, other musical

venues)

Page 39: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Adult Opportunities

EmploymentIndependent living optionsSocialization and adult relationshipsRecreation

Page 40: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Suggested Recreational Opportunities

TrampolinesBicyclingSwimmingBowlingSoccerGym/Fitness Center

Softball Martial ArtsScoutsChoirs or other musical venuesSpecial OlympicsChallenger sports

Page 41: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

MedicationsAttention-related problems Hyperactivity/ impulsivityMood disorders/ depressionAnxiety/ panicAggression

Obsessive/ compulsive symptomsBedwettingSleep disordersSeizuresSelf injury

Page 42: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

FXTAS Symptoms and DiagnosisFXTAS 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 decline The 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.

Page 43: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

FXPOIFXPOI: 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

Page 44: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

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 .

Page 45: 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 Research &

Clinic Consortium

Page 46: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

Linking Individuals in Knowledge and Support

Page 47: 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 Advocacy Day

March 3, 2010 in Washington, D.C.

Page 48: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

The National Fragile X

FoundationP.O. Box 190488

San Francisco, CA 94119-0048

800-688-8765

www.FragileX.org

Email: [email protected]

Page 49: 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 Association of Alabama

Matt Rhodes

2710 Wellington Circle

Pelham, AL 35124

www.fxalabma.org

Email: [email protected]

Page 50: Fragile What? – An Overview of Fragile X Syndrome and its Associated Disorders Matt Rhodes Parent Contact - LINKS Leader Fragile X Association of Alabama

The National Fragile X

Foundation

Serving the Fragile X community since 1984