Fragile X and Autism: Why getting the right diagnosis really matters.

The Fragile X Society team exhibited at the 2016 AKO Autism Expo on Saturday 12th March. In this blog, Becky (our CEO) gives an overview of the talk she gave, explaining why opportunities like this to raise awareness amongst the autism community are so important!

The past few years have seen huge strides forward in the awareness and understanding of autism. Yet, still, many people have not heard of Fragile X Syndrome, which is the underlying cause of up to 1 in 20 diagnoses of autism, and do not understand the benefit that getting the correct genetic diagnosis can have.

This lack of awareness can create missed opportunities for providing people with the most effective support, which is why one of our key aims at the Fragile X Society is to tackle this. But, why does getting the diagnosis right really matter?

1. For the individual

Despite there being a lot of similarities between the characteristics of Fragile X and autism (such as strong tendencies for reduced eye contact, repetitive behaviour and speech and social withdrawal), there are important differences between the two that make a meaningful difference to understanding the individual’s needs and providing the most effective support. Interventions aimed at individuals with autism cannot always be directly applied to those with Fragile X and may need adapting to be the most effective.

Unlike a generic diagnosis of autism, getting a Fragile X diagnosis gives additional information, including:

  • Physical health issues an individual is more likely to experience: allowing health professionals to more effectively understand the individual’s needs

  • Likely areas of learning strengths and difficulty, which can direct teaching and maximise individuals’ learning.

  • Understanding the key role of anxiety in driving many of the challenges that can be associated with having fragile X, and how this may be able to be managed.

Every person with Fragile X is unique, and the diagnosis does not define them. But, when used properly, a diagnosis of Fragile X can be used as a vital toolkit of information to help provide effective and proactive support to help that individual live the full quality of life they deserve. People with autism or with a learning disability are so often given unhelpful labels within society, but a genetic diagnosis should not be seen or used as one of these.

2. For the whole family

Fragile X Syndrome is an inherited condition which may have varying and family-wide effects. Parents, grandparents and members of the wider family of a person with Fragile X may have Fragile X Syndrome or be carriers of smaller variants of the Fragile X gene. Carriers, too, may experience Fragile X-Associated conditions which can include premature menopausal symptomsand neurodegenerative issues (including difficulty with memory, balance and tremor in later life), as well as an increased likelihood of some physical and mental health issues. Again, a generic diagnosis of autism does not provide this additional information, which can enable whole families to be proactive in getting the right healthcare and to make informed decisions.

Fragile X Syndrome is diagnosed by a blood test and should be available to all individuals with an autism diagnosis (Professor Jeremy Turk, Consultant Child & Adolescent Psychiatrist & Professor of Developmental Psychiatry)

We are so grateful to Tally Nothey and the Anna Kennedy Online team for inviting us to come to speak and run a clinic at the first ever AKO Autism Expo on Saturday (12th March). Opportunities like this allow us to make a real difference through raising awareness and understanding.

Becky

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