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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.

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Presentation on theme: "Understanding Fragile X The world’s leading cause of inherited intellectual disability and the most common single gene cause of autism."— Presentation transcript:

1 Understanding Fragile X The world’s leading cause of inherited intellectual disability and the most common single gene cause of autism.

2 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.

3 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.

4 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:

5 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

6 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

7 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.

8 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

9 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

10 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

11 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

12 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.

13 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

14 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 ( ) Website:


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