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20 views18 pages

Seminar

Uploaded by

kamana
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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FRAGILE X

SYNDROME
CONTENTS
• Introduction
• Cause of Fragile X syndrome
• Types
• Diagnosis of Fragile X syndrome
• Treatment
• Early Interventions
Fragile X associated disorders
1. Fragile X Syndrome
• Symptoms include intellectual disability, behavioral and learning challenges, and various
physical characteristics. Males are more frequently affected with greater severity.
2. Fragile X-associated tremor/ataxia syndrome (FXTAS).
• It usually occurs in male premutation carriers after age 50
• Symptoms include balance problems, shaky hands, unstable mood, memory loss,
cognitive problems and numbness in the hands and feet.
3. Fragile X-associated primary ovarian insufficiency (FXPOI).
• It usually occurs in female premutation carriers after age 40
• Symptoms include reduced fertility, infertility, missing or unpredictable menstrual
periods and premature menopause.
INTRODUCTION
• Fragile X syndrome (FXS) is a genetic disorder caused by a change to one of the
genes on the X chromosome and is the inherited cause of intellectual disability.
• XS is named fragile X syndrome because, when looked at through a microscope,
part of the X chromosome looks “broken” or “fragile.”
• Fragile X syndrome is also linked to autism spectrum disorder. About a third of
those affected have features of autism such as problems with social interactions and
delayed speech .They may have attention
deficit disorder (ADD), which includes
an impaired ability to maintain attention
and difficulty focusing on specific tasks.
CAUSES

• Fragile X syndrome is caused by a change to a gene on the X-chromosome


called the Fragile X Messenger Ribonucleoprotein 1 FMR1. This gene
produces a protein that helps the brain function and normal neural
development. If this gene is changed or altered in any way, it cannot
produce its normal protein, which can result in Fragile X syndrome.
• Those with fragile X-associated disorders have changes in the FMR1 gene,
but still make the protein. Absence of FMRP leads to abnormalities in brain
development and function.
• Nearly all cases of fragile X syndrome are caused by a mutation in which a DNA
segment, known as the CGG triplet repeat, is expanded within the FMR1 gene.
Normally, this DNA segment is repeated from 5 to about 40 times.
• In people with fragile X syndrome, however, the CGG segment is repeated more
than 200 times.
• Males and females with 55 to 200 repeats of the CGG segment are said to have
an FMR1 gene premutation. Most people with this premutation are intellectually
normal and may have mild versions of the physical features (such as prominent
ears) and may experience emotional problems such as anxiety or depression.
• Some children with an FMR1 premutation may have learning disabilities or
autistic-like behavior.
How Common Is Fragile X syndrome
• 1 in 3600 to 4000 males in the world are born with the full mutation.
• 1 in 800 men in the world are carriers of the Fragile X premutation
• 1 in 4000 to 6000 females in the world are born with the full mutation.
• 1 in 260 women in the world are carriers of the Fragile X premutation.
• Male has XY chromosome(Since 1X chromosome
& easier to have FXS). Female has XX
chromosome (since there are 2 X chromosomes
they are more common to be a carrier of FXS)
PHYSICAL FEATURES

Hyperextensible
Flat feet Large ears finger Elongated face

crowding high arched palate


Hand flapping
Hypotonia

ADHD
Intellectual and behavioral disabilities
• Anxiety and unstable mood.
• Autistic behaviors, such as hand-flapping and not making eye contact.
• Hypersensitivity to loud noises or bright lights.
• Memory problems
• ADHD (attention deficit hyperactive disorder
• Increased risk for aggression
• Sleep disorders
• Mild learning disabilities to more severe intellectual disabilities.
• Speech and language delay
• Motor delay (late crawling, walking, toileting)
MEDICAL ISSUES

• Ear infections
• Strabismus (crossed eyes)
• Seizures
DIAGNOSIS

• FXS can be diagnosed by testing a person’s DNA from a blood test. Testing
also can be done to find changes in the FMR1 gene that can lead to fragile
X-associated disorders.
• Diagnosis of FXS is made through genetic testing to determine the number
of CGG repeats in FMR1 (carrier testing)
*Carrier testing: Carrier testing is used to identify who carry a copy of gene
mutation or in two copies, causes a genetic disorder. This type of testing is
offered to individuals who have a family history of a genetic disorder.
TREATMENT
TREATMENT

Speech therapy

Walk therapy

Medicine
TREATMENT

• There is no cure for FXS. However, treatment services can help people learn
important skills. Services can includes:
• Motor control Behavioral therapy
• Medicine to help control behavior problems, attention deficit, hyperactivity,
anxiety, and aggression
• Speech-language therapists to improve their pronunciation of words and sentences,
slow down their speech, and use language more effectively.
• Physical therapists are designed activities and exercises that help build motor
control and improve posture and balance.
EARLY INTERVENTION SERVICES
• Genetic counselling maybe helpful if a couple have
family background of this syndrome and are
planning to have a baby.
• Early intervention services help children
from birth to 3 years old (36 months) to
learn important skills.
THANK
YOU…

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