FOI 24/25-0367 DOCUMENT 10

Fragile X syndrome Disability

Snapshot

SGP KP Publishing

Exported on 2024-10-18 03:12:05

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SGP KP Publishing – Fragile X syndrome Disability Snapshot

1 Peak body consulted …………………………………………………………………………………………….. 4 2 What is Fragile X syndrome? …………………………………………………………………………………. 5 3 How is Fragile X syndrome diagnosed? …………………………………………………………………. 6 4 Language and terminology ……………………………………………………………………………………. 7 5 Enabling social and economic participation ……………………………………………………….. 8 6 Families and carers ……………………………………………………………………………………………….. 9 7 How can I tailor a meeting to suit a participant with Fragile X syndrome? …………….. 10 8 What people with Fragile X syndrome want you to remember …………………………… 11 9 Helpful links ………………………………………………………………………………………………………… 12

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SGP KP Publishing – Fragile X syndrome Disability Snapshot

This Disability Snapshot provides general information about Fragile X syndrome to assist you in communicating effectively and supporting the participant in developing their goals. Each person is an individual and will have their own needs, preferences, experiences and capacity. This information has been prepared for NDIA staff and partners and is not intended for external distribution.

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SGP KP Publishing – Fragile X syndrome Disability Snapshot

1 Peak body consulted

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

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SGP KP Publishing – Fragile X syndrome Disability Snapshot

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 a mutation (change in DNA structure) on the X chromosome. The FMR1 gene is responsible for producing a protein important for brain development. When this gene lengthens through the mutation, it switches off production of the protein involved in brain development and other functions.

Fragile X syndrome occurs in around 1:3600 males and around 1:4000-6000 females. Fragile X syndrome is inherited from a female carrier of the FMR1 gene premutation. A premutation carrier does not have Fragile X syndrome, but may have mild expressions of some traits such as anxiety, social avoidance and difficulty with planning and organisation.

Men and women can be carriers of the premutation but only female carriers can pass on the syndrome to their children. Male carriers will pass on the premutation to their daughters who then become carriers. One in around 250 women are Fragile X premutation carriers, often unknowingly. As women have two X chromosomes, there is a 50% chance that women who are either premutation carriers or have Fragile X will pass on the syndrome to their children.

The impacts of Fragile X syndrome are lifelong. Key characteristics of Fragile X syndrome include developmental delay and anxiety (hyperarousal). There is a genetic link between Fragile X syndrome and autism spectrum disorder (ASD). Approximately 50% of males and 30% of females with Fragile X syndrome also have a diagnosis of ASD, and many other males will have autistic-type traits.

The impacts of Fragile X syndrome include a wide range of difficulties such as:

daily living (anxiety, motor delays, difficulty sleeping, eating issues, toileting, etc.)
learning challenges including short term memory, difficulty with abstract concepts and planning, expressive language deficits, inattention
speech and language, including delayed speech or being fixated on something (perseveration)
behavioural and emotional impacts such as anxiety, ASD, Attention Deficit Hyperactivity Disorder and aggression
other social impacts
medical impacts including low muscle tone, epilepsy and ear infections.

The effects of Fragile X syndrome will vary for each individual, ranging from mild to severe. While males commonly appear more severely affected by Fragile X syndrome, some females may also be severely affected. Intellectual disability occurs in 80% of males and about 30% of females with Fragile X Syndrome.

With appropriate care and supports, people who have Fragile X syndrome have a normal life expectancy. Support needs may change at times of transition and throughout life.

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SGP KP Publishing – Fragile X syndrome Disability Snapshot

3 How is Fragile X syndrome diagnosed?

Fragile X syndrome is diagnosed by DNA testing, generally from a blood sample. A general practitioner, paediatrician, geneticist or any medical doctor can request the test. An individual should be tested for Fragile X if they have developmental delay, unexplained intellectual disability, or where there is a family history of Fragile X.

Some girls with Fragile X syndrome may be diagnosed much later than boys if there is no history of the condition in the family. Females are less likely to display symptoms because they can conceal the impacts of Fragile X syndrome.

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SGP KP Publishing – Fragile X syndrome Disability Snapshot

4 Language and terminology

The expression ‘living with Fragile X syndrome’ is an acceptable way to describe someone who has been diagnosed with the condition. ‘Fragile X’ or FXS are acceptable abbreviations to use for Fragile X syndrome.

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SGP KP Publishing – Fragile X syndrome Disability Snapshot

There is no cure for Fragile X syndrome. Early intervention with a multidisciplinary approach and 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 behavioural impairments which present challenges in participating in school, employment and community settings.

Supports to enable the participant’s social and economic participation may include:

Occupational therapy such as sensory integration, developing structured routines, encouraging independence through capacity building, providing support in a workplace.
Psychological therapies such as support with anxiety/hyperarousal.
Support coordination to maintain consistency of therapeutic relationships, build capacity of the family unit and support carers.
Support in the community including support workers to provide consistent, safe supports, and model appropriate social skills in a variety of situations.
Assistive technology and appropriate equipment in the home, work or volunteer setting.
Speech and language therapy.
Education supports such as learning environments that are suitable for the Fragile X learning style and support executive function. Examples include using visual input (pictures, timetables); minimising distractions; using calming strategies; positively reinforcing good behaviour.

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SGP KP Publishing – Fragile X syndrome Disability Snapshot

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 supporting the participant to gain access to the NDIS, planning and implementation of supports.

As Fragile X Syndrome is an inherited condition, it may impact other family members and the participant’s home life. The family unit may need support through access to respite or support with the participant’s daily living activities or community participation. The impact of raising a child or children with Fragile X syndrome can also affect a family unit. You should consider how funded supports for the participant can result in a break for families and carers.

As Fragile X syndrome is hereditary, the biological mother can experience feelings of guilt or other feelings associated with being a carrier of the condition.

Support coordination can be an effective support for the family/carer and individual with Fragile X syndrome.

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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 background noise. Consider offering breaks during the planning discussion. Before the meeting, consider providing written material in plain English or Easy English, with questions and points to discuss.

During the discussion, allow time for people to reflect on questions and respond. Use open body language and a calm tone of voice. You can check understanding with questions such as “can you explain that back to me?”. Make sure you read back what has been written to ensure the participant is comfortable their goals have been accurately recorded.

Participants will often be accompanied and supported by family members for NDIS discussions, especially to provide support with communication. Where planning discussions involve mothers who are premutation carriers of Fragile X, be mindful of their feelings and possible level of anxiety. Additionally, a parent or family member may also have Fragile X syndrome and need support themselves. This might make it difficult for them to develop or implement the participant’s plan. Consider suggesting that the participant/family/carer involve an advocate, support coordinator, or support worker to support them in the meeting.

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SGP KP Publishing – Fragile X syndrome Disability Snapshot

8 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 syndrome is an inherited lifelong genetic condition, and families may have more than one child with Fragile X syndrome.
Fragile X is diagnosed by DNA test, not behavioural testing or analysis of physical facial features.
In around 30% of diagnoses there is no family history of Fragile X syndrome.
Early intervention and ongoing therapies support capacity building.
Fragile X presents differently in females and males.
Females who have Fragile X syndrome may mask their cognitive-communicative disability through shyness or avoidant behaviour.
Changes in behaviours usually have an additional cause, such as an undiagnosed medical condition, hormonal changes (for example, puberty, or ageing later in life), a change in environment (transitions can be difficult), adverse social interactions (for example, bullying in work or school). Further assessments by a professional will be required.

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SGP KP Publishing – Fragile X syndrome Disability Snapshot

9 Helpful links

Fragile X Association of Australia
National Fragile X Foundation (USA)
Fragile X Alliance

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