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Understanding Fragile X

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.

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Understanding Fragile X

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  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 (1300 394 636) Email: support@fragilex.org.au Website: www.fragilex.org.au

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