fragile x syndrome (fxs) - addvancedsolutions.co.uk€¦ · fragile x syndrome (fxs) fragile x...

INFORMATION AND RESOURCES www.addvancedsolutions.co.uk Telephone: 0151 486 1788 Email: [email protected] Registered office: 54 St James Street, Liverpool, L1 0AB Community Network Office: Business First Centre, 23 Goodlass Road, Speke, L24 9HJ. ADDvanced Solutions Supporting you to find the answers © ADDvanced Solutions 2016 Fragile X Syndrome (FXS) Fragile X syndrome is the most common inherited cause of intellectual disability and a major risk factor for ASD. It affects around 1 in 4000 boys and men, as well as 1 in 8000 girls and women. Boys with the condition are typically more severely affected than girls. Fragile X can be detected by a simple blood test, and medical practitioners are increasingly recommending this if signs of ASD and learning difficulties are present in a young person. A significant number of people with Fragile X syndrome have a dual diagnosis of autism. Key physical features of Fragile X Syndrome are: l Low muscle tone resulting in hyper-extensible joints l Flat feet l Unusually soft skin l Large and prominent ears l A long, narrow face (The last two characteristics aren’t always obvious before puberty). Key intellectual and behavioural characteristics are:: l Learning difficulties across all areas l High sensitivity to sensory stimuli (e.g. sounds, smells, bright lights) l Social withdrawal l Rigid thought patterns l Higher anxiety levels than usual, increases with changes l Hand flapping and/or hand biting l Hyperactivity l Inattention Positive features are that individuals with FXS often have good imitation skills, a good long term memory and are often described as having likeable personalities and a good sense of humour. Young people with Fragile X will usually respond better to an approach that is good-natured and humorous, with limited direct eye contact (finding this particularly difficult). Because they can be so sensitive and reactive to sensory input, a calm quiet environment will help to relieve anxiety and stress. They also, as with individuals with other neurodevelopmental conditions, benefit from early intervention in speech and language, occupational therapy, behavioural interventions and learning support. The Fragile X society has a number of downloadable booklets available on their website for parents and professionals, at www.fragilex.org.uk

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Page 1: Fragile X Syndrome (FXS) - addvancedsolutions.co.uk€¦ · Fragile X Syndrome (FXS) Fragile X syndrome is the most common inherited cause of intellectual disability and a major risk

INFORMATIONAND RESOURCES

www.addvancedsolutions.co.ukTelephone: 0151 486 1788 Email: [email protected]

Registered office: 54 St James Street, Liverpool, L1 0ABCommunity Network Office: Business First Centre, 23 Goodlass Road, Speke, L24 9HJ.

ADDvanced SolutionsSupporting you to find the answers

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Fragile X Syndrome (FXS)Fragile X syndrome is the most common inherited cause of intellectual disability and a major risk factor for ASD. It affects around 1 in 4000 boys and men, as well as 1 in 8000 girls and women. Boys with the condition are typically more severely affected than girls.

Fragile X can be detected by a simple blood test, and medical practitioners are increasingly recommending this if signs of ASD and learning difficulties are present in a young person. A significant number of people with Fragile X syndrome have a dual diagnosis of autism.

Key physical features of Fragile X Syndrome are:l Low muscle tone resulting in hyper-extensible jointsl Flat feetl Unusually soft skinl Large and prominent earsl A long, narrow face

(The last two characteristics aren’t always obvious before puberty).

Key intellectual and behavioural characteristics are::l Learning difficulties across all areasl High sensitivity to sensory stimuli (e.g. sounds, smells, bright lights)l Social withdrawall Rigid thought patternsl Higher anxiety levels than usual, increases with changesl Hand flapping and/or hand bitingl Hyperactivityl Inattention

Positive features are that individuals with FXS often have good imitation skills, a good long term memory and are often described as having likeable personalities and a good sense of humour.

Young people with Fragile X will usually respond better to an approach that is good-natured and humorous, with limited direct eye contact (finding this particularly difficult). Because they can be so sensitive and reactive to sensory input, a calm quiet environment will help to relieve anxiety and stress.

They also, as with individuals with other neurodevelopmental conditions, benefit from early intervention in speech and language, occupational therapy, behavioural interventions and learning support.

The Fragile X society has a number of downloadable booklets available on their website for parents and professionals, at www.fragilex.org.uk

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