understanding fragile x
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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. - PowerPoint PPT PresentationTRANSCRIPT
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• 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.
• 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:– 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 non-profit 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?• 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 AustraliaSuite 6, Level 3, 39 East EsplanadePO Box 109, Manly NSW 1655Ph: 1300 FX INFO (1300 394 636)Email: [email protected]: www.fragilex.org.au