Diagnosis: Fragile X
Fragile X syndrome is a genetic condition that causes intellectual disability and developmental delay, as well as behavioural and learning challenges.
Around 1 in 5,000 people have Fragile X syndrome. Therapies, such as OT and speech therapy, and the right supports in educational, community and workplace settings will encourage independence and ensure the best outcomes in daily living for children and adults who have Fragile X syndrome.
The diagnosis can cause various challenges for daily living, and its effects will vary from person to person. Males and females are affected differently. Fragile X is an X-linked condition, carried on the X chromosome. Males have one X chromosome, and females have two X chromosomes. The presentation of Fragile X syndrome in females may seem less pronounced than in males due to the ‘balance’ of having an unaffected FMR1 gene on their second X chromosome. While a wide range of characteristics are associated with the syndrome, a person may only experience some of these. They include developmental delay and learning challenges, as well as social, language, attentional, sensory, emotional, and behavioural difficulties. Autistic behaviours and autism spectrum disorder are associated with Fragile X, as are low muscle tone and difficulties with fine and gross motor skills. Anxiety, including social anxiety, is also a very common trait, and so behaviour and communication in social settings can present a challenge.
STRENGTHS
People living with Fragile X syndrome have many strengths. They are often empathetic and sensitively aware of the feelings of others, have a friendly
and sociable nature, and a good sense of humour. The unique learning style associated with Fragile X includes excellent visual memory, good long term and incidental memory, and capacity for imitation. Capitalising on these strengths is an opportunity to help develop skills in daily living and learning.
HOW FRAGILE X IS PASSED ON
Fragile X syndrome is caused where a change (expansion) occurs in an individual’s Fragile X gene (called the FMR1 gene). This expansion of the FMR1 gene restricts the production of a protein which is essential to normal brain development, resulting in developmental delays and other characteristics associated with Fragile X syndrome. The gene change associated with Fragile X syndrome is passed on through a female parent, who is a carrier of Fragile X.
It is estimated that about 90,000 people in Australia are impacted by Fragile X – as female or male carriers of Fragile X, or living with Fragile X syndrome.
OBTAINING A DIAGNOSIS
Fragile X syndrome is diagnosed by a DNA test of a blood sample or a saliva sample. A confirmed diagnosis can ensure a child receives early Fragile X-specific supports for language development, physical or occupational therapy and in other areas.
A GP, paediatrician or clinical genetics service can order the test and the results are usually available within several weeks. In certain circumstances where the person being tested has intellectual disability, or has a relative with the Fragile X permutation (a carrier), the cost of this testing will be covered by Medicare.
DNA testing for Fragile X syndrome is recommended to be included as part of a basic medical genetic assessment where a child has intellectual disability or developmental delay. GPs or paediatricians will also generally recommend a Fragile X test for a child who has a diagnosis of autism spectrum disorder, as Fragile X is thought to underlie up to 1 in 20 cases of autism (6%).
Genetics services can provide genetic counselling to parents and may recommend Fragile X testing to other family members.
Advances in the availability of testing for Fragile X are on the horizon. Reproductive genetic carrier screening for Fragile X will be reimbursed by Medicare from November 2023. It is hoped that in the not-too-distant future Fragile X syndrome will be included in the newborn bloodspot testing program as the Federal Government looks to add more conditions to this screening.
TREATMENTS / THERAPY
While there is as yet no specific targeted treatment for Fragile X syndrome, there are a range of treatment interventions and management strategies to target symptoms of Fragile X that can be of great benefit.
Early and ongoing interventions provide the best outcomes and therapies and management strategies are helpful lifelong. A multi-disciplinary approach tailored
to the individual would incorporate educational, medical and behavioural management techniques and therapies.
An integrated approach would include a range of specialists:
• GP and / or developmental paediatrician • Occupational therapist
• Speech and language therapist
• Behavioural psychologist
• Psychologist
• Physiotherapist
• Special education support
• Other medical specialists may include a psychiatrist and neurologist.
Clinical trials are underway internationally and in Australia to investigate treatments that target specific characteristics associated with Fragile X syndrome, such as anxiety, so the future for targeted treatments for symptoms associated with the diagnosis looks hopeful.
Fragile X Association of Australia – provides information, counselling, peer support and educational videos/webinars, referrals to health professionals.
HelpLine; 1300 394 636 or
[email protected]
fragilex.org.au
