Download Understanding-FXS-Presentation-1st-may-2012

Understanding Fragile X
The world’s leading cause of inherited
intellectual disability and the most
common single gene cause of autism.
What is Fragile X syndrome?
• Fragile X Syndrome is the most common
inherited cause of intellectual disability.
• Fragile X is caused by a mutation on the X
Chromosome therefore it is a genetic
condition and passed down from generation
to generation.
How is it passed down?
• Not everyone who carries the gene will be fully affected
• A male carrier who has one X and one Y chromosome will
definitely pass on carrier status to all of his daughters. He will
not pass on Fragile X in any form to his sons.
• Female carriers who have two X chromosomes will have a 50%
risk of having a child of either sex that is a carrier or is fully
affected by FXS
• Only female carriers can go on to have fully affected children
of either sex.
Fragile X animation
• Click on the picture to watch this short 3D animation to gain a
simple understanding of how the genetics of Fragile X
syndrome works and how it is passed down through the
generations of a family in both carrier and full mutation status:
Symptoms or traits
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Intellectual disability
Learning difficulties
Developmental delay
Speech & communication
difficulties
Anxiety & shyness
ADHD
Autistic type behaviours
Physical characteristics
such as long narrow face
and large ears.
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Poor eye contact
Tactile defensiveness
Repetitive speech
Aggression
Poor coordination
Poor fine and gross motor
skills
• Low muscle tone and
loose joints
Strengths of people with Fragile X
• This may include:
– Excellent memory & imitative
skills
– Wonderful sense of humour
and engender being liked
– Enjoy and do well in activities
including music, arts & sports
– Creative
Diagnosis
• Fragile X syndrome is commonly wrongly
diagnosed or diagnosed later in a child’s life.
How common is it?
• It is now estimated that 1 in 120 females and 1 in
a 180 men carry the gene worldwide.
• It is estimated in Australia that one child a week
is born with the full mutation and 12 children a
week are born with carrier status.
• Fragile X is carried by people of all ethnic, racial
and socio-economic backgrounds.
How to test?
• A DNA blood test for Fragile X can be organised
through your GP or paediatrician.
Who should be tested?
• All people with an intellectual disability
• People with significant learning disabilities, mild
cognitive deficits, ADHA, autistic like behaviours
and anxiety.
• Women who experience early menopause
• People with Parkinson's type symptoms
Treatments
• While there is yet no cure for Fragile X syndrome,
there is a wide range of treatment and
management strategies.
• Early intervention with a multi-disciplinary
approach is vital. This could include:
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Developmental paediatrician
Occupational therapy
Speech therapy
Education & behavioural psychology
Special educator
Physiotherapy
Carriers
• Carriers can have many of the characteristics
of FXS including:
– Depression, anxiety and social shyness
– Learning difficulties
– Autism spectrum traits and disorders
– Female carriers may suffer FXPOI or early
menopause
– 20-40% males and fewer females may suffer FXTAS
which presents like Parkinson’s like disease
Family planning
• As Fragile X is a genetic condition it is passed
down through a family tree. Options for
families with FXS include:
– Have an affected child
– Become pregnant and terminate
if tested positive
– IVF techniques such as PGD
– Adoption
Who we are?
The Fragile X Association of Australia is a nonprofit national organisation that aims to:
• Improve the health and well being of those
affected by Fragile X syndrome and the
families they are supported by.
• To raise awareness of Fragile X syndrome.
How can we help?
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Clinics
Counselling
Casework
Parent support
Carrier support
Raising awareness
Fundraising
DVD: click picture to watch a DVD which provides useful
advice and information from health professionals and
poignant insights from families living with Fragile x
Contact us
The Fragile X Association of Australia
Suite 6, Level 3, 39 East Esplanade
PO Box 109, Manly NSW 1655
Ph: 1300 FX INFO (1300 394 636)
Email: [email protected]
Website: www.fragilex.org.au