Have you ever heard of Fragile X, the most common inherited cause of autism? Don’t worry, most people haven’t. Yet Fragile X Syndrome affects up to 100,000 Australians and is the world’s leading cause of developmental and mental disability worldwide.

July is Fragile X Awareness Month, and VIVA! Communications has teamed with the Fragile X Association of Australia to help raise awareness of the relatively unknown condition – which may rise alarmingly without better education and intervention.

Tom, 5 living with Fragile X Syndrome

To help you better understand the genetic condition we’ve compiled the following fast facts:What is Fragile X?

  • Fragile X syndrome is the world’s leading inherited cause of developmental and mental disability. It is also the most common genetic cause of autism.
  • Genetic testing is available to diagnose the condition, and to help potential parents who may carry the gene to avoid passing it on to their children.
  • Early intervention by health and educational professionals can assist children affected by Fragile X reach their full potential.

How common is it?

  • Fragile X is a greatly under-recognised and under-diagnosed condition as widespread as cystic fibrosis, and second only to Down syndrome in causing intellectual impairment.
  • Estimates suggest up to 100,000 Australians carry the gene or have Fragile X, yet the vast majority have not been diagnosed.
  • Fragile X affects one in 3,600 males and one in 4,000-6,000 females. As many as one in 200 people are carriers – up to one in 125 females and one in 280 men.
  • Every week in Australia, one child is born who is fully affected by Fragile X and 25 children are born who are carriers.
  • Children born to female carriers have a 50 per cent chance of inheriting the gene, and all daughters of male carriers become carriers.
  • An estimated 8,000 Australians are affected by the symptoms listed below.

What are the symptoms?

  • Common signs can be:

–          Mental impairment, ranging from mild learning problems to severe intellectual disability

–          General developmental delay, including poor coordination

–          Behavioural and emotional problems, include attention deficit, hyperactivity, anxiety, unstable mood and aggression

–          Communication problems, including delayed and repetitive speech

–          Autistic behaviours, including poor eye contact and obsessiveness

–          In boys, a long narrow face, large and prominent ears and an enlarged testes

–          Flat feet, puffy eyelids, low muscle tone, gastrointestinal problems, hernias, ear infections, squint and a hollow chest

–          Very flexible joints, especially in the fingers

–          Seizures (epilepsy) affect about 25 per cent of people with fragile X.

  • Around 30 per cent of all people with Fragile X have autism. Fragile X occurs more often in boys than girls, and boys are more seriously affected.
  • Most boys have mental disabilities, while one-third to one-half of girls have significant intellectual impairment; the remainder have either normal intelligence or learning disabilities.                                                                            
  • Around 40 per cent of older male gene carriers may have tremors, poor balance and memory loss (often misdiagnosed as Alzheimer’s disease, senile dementia or Parkinson’s disease).
  • Up to 25 per cent of female carriers experience early menopause, often as young as their early twenties.

Testing for Fragile X

  • A DNA test is widely available for babies, children and adults. Genetic counselling is available for information and support, and Medicare may cover costs. All medical practitioners can arrange the test.
  • Fragile X testing should be considered for any individual with unexplained developmental delay, mental disability or autism; those with a family history of unexplained intellectual impairment and people considering starting a family. Chromosome tests should be carried out at the same time to eliminate the possibility of other genetic disorders.
  • The Fragile X Association is urging governments to introduce mandatory free heel-prick testing of all newborn babies and make free genetic testing available for all mothers-to-be.

Can Fragile X be prevented?

  • Those with a family history of Fragile X may wish to consult with a genetic counsellor before becoming pregnant, and accurate pre-conception and pre-natal foetal tests are available.

Is Fragile X treatable?

  • There is currently no cure for Fragile X, however there are ways to help with the symptoms. The earlier the condition is recognised, the better the outcomes.
  • Early intervention therapies (such as speech, occupational, physiotherapy, psychology), targeted methods of teaching and medication all provide real benefit to people with the syndrome and help them reach their best potential.
  • Worldwide research is regularly providing increased knowledge.
  • There are clinics in Melbourne and Sydney which deal specifically with Fragile X syndrome.
  • Doctors can help diagnose, treat and manage the condition.

More information

  • For resources, support and links, visit the Fragile X Association of Australia. Donations to help provide treatment, early intervention and raise awareness of the condition may be made by calling 1300 394 636.