Fragile X Syndrome Charlotte Andreasen

8/13/2019 Fragile X Syndrome Charlotte Andreasen

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The Leading

Cause of

Autism and

Intellectual

Disabil ity

FRAGILE X SYNDROME

By Charlotte

Andreasen


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Weve all heard of Autism, intellectual disabilities,

hyperactivity, social anxiety and obsessive compulsive

disorder. But had you heard of Fragile X?

Fragile X is in fact the leading genetic cause of these

aforementioned syndromes and afflictions.

Even though you may not h ave heard of Fragile X (like myself),

you may have a genetic premutation for the syndrome!

1 in 151 women and 1 in 468 men have a genetic

premutation for Fragile X.

Those with premutations do not have the syndrome, per say,

but rather they are at risk of developing symptoms related toFragile X, or passing it onto their children.

Therefore, while Fragile X isnt often talked about, its playing

a large role in our society!

HAVE YOU EVER HEARD OF FRAGILE X?


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Developmental Delay and

Intellectual Disability

Attention Problems

Autism

Generalized Anxiety

Hyperactivity

Seizures

Sleep Disorders

Social Anxiety

Obsessive Compulsive and

Repetitive Behavior

SYMPTOMS OF FRAGILE X:

Physical Characteristics:

Elongated Head Shape and

Protruding Ears (especially in

boys)


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Diagnosing Fragile X has proven difficult for many families

and medical professionals.

Symptoms generally become evident in children at about 12

months for boys and 16 months for girls.

After this initial detection (usually made by parents), Fragile X

can take a while to officially diagnose.

The CDC states Fragile X Syndrome is not usually officially

diagnosed until 20 months for boys and 26 months for girls.

In fact, more than one third of families had to consult with

their physician 10 times before FXS was diagnosed!

DIAGNOSIS


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Why do you think Fragile X takes so long

to diagnose?

Given what we know about earlyintervention in developmental

disabilities, what effect might this

delayed diagnosis have on treatment for

the child?

How could we speed up the process?

THOUGHTS


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There is no official cure for

Fragile X syndrome.

That being said, early

detection, quality education

and appropriate medicationcan all help to maximize the

potential of a child with

Fragile X.

Medication is often used to

treat specific symptoms (i.e.ADHD, seizures, anxiety etc.)

Clinical trials are being

executed right now for Fragile

X specific medication!

TREATMENT


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Special education serv ices are available to children with Fragile

X.

Under the Individuals with Disabilities Education Act (IDEA),

children are provided with services from birth to age 3. They arethen guaranteed free public education until age 21.

IDEA requires a multifaceted evaluation and approach to

treatment for children with disabilities, drawing upon

consultations between parents, educators, health professionals

and others. As previously mentioned, early detection is key in providing the

best treatment and education for ch ildren with Fragile X!

EDUCATION


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Because Fragile X Syndromes symptoms and manifestations

are so varied, a spec ific teaching strategy is difficult to

define.

But, specific strategies exist to deal with many facets of the

syndrome, like Autism.

TEACHING STRATEGIES

Teaching Strategies for Students with

Autism:

Avoidance of excessive auditory or visual

stimulation

Presentation of a clear and predictable

schedule

Use of the Picture Exchange

Communication System, in place of verbal

communication

Direct instruction in social skills

Clearly defined work stations


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Of course, Autism is only one possible side

effect of Fragile X Syndrome.

Do you have any ideas for teaching strategies

for students exhibiting other symptoms of

Fragile X?

How about for anxious students?

Students with obsessive compulsive disorder?Students with ADHD or hyperactivity?

THOUGHTS


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Fraxa Research Foundation: 10Prince Place, Suite 203 NewBuryport , MA 01950 (978-462-1866) fraxa.org

National Fragile X Foundation:1615 Bonanza St. Suite 202Walnut Creek, CA 94596 (800-688-8765)fragilex.org

Fragile X Clinic at KennedyKrieger Institute: 716 NorthBroadway Baltimore, MD 21205

(443-923-7619) Maryland Dept of DisabilityAdministration: 201 W.

Preston Street 4th Fl oor,Baltimore, MD 21201 (410-767-5600)dda.dhmh.maryland.gov

FAMILY RESOURCES


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Data & Stat ist ics . (2013, August 27) .Centers for Disease Control and Prevent ion.Retr ieved February 3, 2014, f rom http :/ /www.cdc.gov/ncbddd/fxs/data.html

Global Developmental Delay - Medical/Disabi l i ty Informat ion for ClassroomTeachers. (n .d . ) . Retr ieved f romhttp://www.learnalberta.ca/content/inmdict/htmlglobal_developmental_delay.html

Sert ral ine may improve language developmental t ra jectory in young chi ldren wit hfragi le X syndrome: A ret rospect ive char t review. Center for Mind and Brain.(n .d . ) . Retr ieved f romhttp://mindbrain.ucdavis .edu/labs/Rivera/publ icat ions/art ic lereference.2012-04-09.7640531512

Fragi le X Resource Center . (n .d . ) . Retr ieved f rom http ://www.fragi lexsandiego.org/

Teaching Chi ldren With Developmental Disabi l i t ies: Classroom Ideas | Intervent ionCentral . (n .d . ) . Retr ieved f rom http ://www.intervent ioncentral .org/behavioral -intervent ions/special -needs/teaching-chi ldren-developmental -d isabi l i t ies-c lassroom-ideas

CDC - Fragi le X Syndrome (FXS) , Data and Stat ist ics - NCBDDD. (n .d . ) . Retr ievedfrom http ://www.cdc.gov/ncbddd/fxs/data.html

Gardiner , H. (2010, Apri l 29) . Promise Seen in Drug for Retardat ion Syndrome. NewYo rk T imes [New Yo rk] . Retr ieved f romhttp://www.nyt imes.com/2010/04/30/health/research/30fragi le.html?pagewanted=al l&_r=0

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Fragile X Syndrome Charlotte Andreasen

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