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Fragile X syndrome Disability Snapshot

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Fragile X Syndrome Disability

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SGP KP Publishing Exported on 2026-06-17 at 23:43:**57 Page 131 outof 334

SGP KP Publishing - Fragile X Syndrome Disability Snapshot

Table of Contents

  • Peak body consulted … page number (not provided)
  • What is Fragile X syndrome? … page numbers: 5
  • How is Fragile X syndrome diagnosed? … page number (6)
  • Language and terminology … page number(7)
  • Enabling social and economic participation…page number:(8)
  • Families and carers….page number:(9)
  • How can I tailor a meeting to suit a participant with Fragile X syndrome? ….page number (10)
  • What people with Fragile X syndrome want you to remember …..page number(11)
  • Helpful links…..page number :(12)

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SGP KP Publishing - Fragile X Syndrome Disability Snapshot

General Information About Fragile X Syndrome

The Disability Snapshot provides general information on fragile x syndrome aimed at assisting communication with participants so they can develop personal goals. Each individual’s specific requirements are unique; therefore each person may need different support depending upon what works best within that context, as well as any other factors such as experience or ability to communicate effectively. The content in this document should be used solely internally (for example: between yourself and your client) rather than being shared externally.

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SGP KP Publishing - Fragile X Syndrome Disability Snapshot

Section: Peak Body Consulted

Subsection:

  • In developing this resource, we consulted with Fragile X Association of Australia.

#2 What is Fragile X syndrome?

Fragile X syndrome is a genetic disorder and is the leading worldwide contributor to inherited developmental disability. It is caused by mutation (change DNA structure) on chromosome . The FMR gene responsible producing protein important brain development When this lengthens through mutaion it switches off production involved proteins brain developement other functions.

Fragile X syndrome occur around :3600 male s and around female s fragile x sydrome inherit from carrier FMR premutation Premutat carriers not fragle x but mild expressions traits such anxiety social avoidance difficulty planning organisation Men women can carry premutation females pass syndrom their children Male will pass premutations daughters become carriers One in about woman are fragile x premutation often unknowingly Women two chromosomes there chance that either or has fragle x will pass syndrome child ren impacts fragile x syndrome lifelong Key characteristics include delay hyperarousal There link between fragile x autism spectrum disorder ASD Approximately males have diagnosis autistic type traits Impacts fragile x syndrome wide range difficulties including daily living anxiety motor delays, sleeping eating issues toileting etc learning challenges short term memory abstract concepts planing expressive language deficits attention speech lanuage delayed speech fixated something perseveration behavioural emotional impact anxiety ASD Attention Deficit Hyperactivity Disorder aggression other social medical impacts low muscle tone epilepsy ear infections Effects of Fragile Syndrome vary individual ranging severe While males commonly appear more severely affected some may also be severely affected Intellectual disability occurs 8% males % with Syndro With appropriate care supports people who have Fragile X syndrome normal life expectancy Support needs change times transition throughout life

#How\sis\xFrageleXsyndromediagnosed?

Fragile \xFSyndromeidiagnosticedbyDNAtesting,generallyfromabloodsample.Ageneralpractitioner,paediatrician,geneticistoranymedicaldoctorcanrequestthetest.AnindividualshouldbestedforfragileXiftheyhavedevelopmentaldelay,unexplainedintellectualdisability,orthereisafamilyhistoriyoffragileX. SomegirlswithFragelexSyndromemaybediagnosticmuchlaterthanboysifthethereishistoryoftheconditioninthesamily.FemalesarelesslikelytodisplaysymptomsbecausetheyconcealtheimpactsofFragelexSyndrome.

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SGP KP Publishing - Fragile X Syndrome Disability Snapshot

Section: Language And Terminology

Text:

’The term ‘Living With Fragile X Syndrome’ can be used as a description when referring to individuals living in Singapore. The abbreviation “FXS” for Fragile X Syndrome may also be utilized.’

#5 Enabling social and economic participation There is no cure for Fragile X syndrome. Early intervention with a multidisciplinary approach Agency. an ongoing supports will maximise a person’s capacity for daily living and social and economic participation. People diagnosed with Fragile X syndrome experience communication, cognitive and Insurance disorders which present challenges in participating school employment community settings. Supports to enable participant’s social-economic may include:

  • Occupational Therapy sensory integration developing structured routines encouraging independence through building providing workplace. Psychological therapies anxiety hyperarousal. support coordination maintain consistency therapeutic relationships build family unit carers. including consistent safe workers provide model appropriate skills situations assistive technology equipment home work or volunteer setting speech language therapy education learning environments suitable style support executive function examples visual input pictures timetables minimizing distractions calming strategies reinforcing good behaviour. enabled social economical participation - 8 Page:of

#6 Families and Carers Families and carers play an important role in supporting the participant who has fragile x throughout their life. They are usually involved in helping participants gain NDIS access to planning implementation, supports as fragiles x Syndrome inherited may impact other members home lives. The family unit needs respite daily living activities community participation raising child children can also affect units consider funded supports resulting breaks.

#7 How can I tailor a meeting to suit a participant with Fragile X Syndrome?

Get in touch with the participant before the meeting to find out what support they might need. When meeting a participant with Fragile X syndrome, make sure to minimise any distractions, and reduce any sensory stimuli in the environment. For example, bright or flickering light or clicking background noise. Consider offering breaks during planning discussions Before the discussion consider providing written material in plain English or Easy English With questions points discuss. During this allow time people reflect on questions and respond Use open body language calm tone voice You check understanding question such as “can you explain that back me?” Make sure read back ensure goals accurately recorded Participants will often be accompanied supported family members for NDIS especially communication Where planning involves mothers premutation carriers Fragile X mindful feelings possible level anxiety Additionally parent may also have Fragile X syndrome themselves This difficult develop implement plan Suggest advocate coordinator worker help them meet.

#What people with Fragile X Syndrome Want You To Remember

  • Understanding the impacts of fragile x on daily living are key to developing supports that allow an individual to live their best life.
  • Fragile X is diagnosed by DNA test not behavioural testing or analysis physical facial features.
  • In around %of diagnoses there no family history fragle x syndrome early intervention and ongoing therapies support capacity building.
  • Females who have fragile x may mask cognitive-communicative disability through shyness avoidant behaviour.
  • Changes behaviours usually additional cause such as undiagnosed medical condition hormonal changes for example puberty ageing later environment transitions can be difficult adverse social interaction further assessment professionals will require.

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SGP KP Publishing - Fragile X Syndrome Disability Snapshot