Step Ahead Project

An Australian Study of families who carry the fragile X gene

The Australian Research Council (ARC) has funded a 3 year study to help families, health professionals and educators understand how being a carrier of fragile X impacts on Australian families.

For many years, individuals who carried the fragile X gene (carriers) were assumed to be completely unaffected by any challenges facing individuals who had fragile X syndrome. In recent years a number of overseas studies of families suggest that the carriers may have subtle profiles of strengths and challenges that include very good visual and verbal skills but difficulties in decision making and short term memory skills. However, these studies were only conducted in male carriers and we do not know whether women who carry the fragile X gene display a similar profile. Professor Kim Cornish, Head of School of Psychology and Psychiatry, Monash University, is leading this new Australian study.

We also do not know if there exists different profiles in women who carry the fragile X gene and have a child/children with fragile X syndrome compared to women who carry the gene but do not have a child with fragile X syndrome. For the first time, in one Australian research study, we will be able to identify commonalities in profiles between men and women who carry the fragile X gene and also highlight important gender differences.

  • In Australia we estimate that hundreds of families will have a member who is a carrier of fragile X.
  • It is vital that we gather as much knowledge as possible about being a fragile X carrier across the lifespan so we can inform all families about what to expect and how best to intervene.
  • Understanding how motor skills, language skills, decision making skills and your well-being changes with age will provide invaluable information that will help future generations.

The Step Ahead project is based at Monash University in Melbourne and they are looking for carriers of fragile X syndrome to participate in their study. Travel costs and additional costs incurred because of your participation will be covered.

If you are interested in the Step Ahead Project please contact Claudine Kraan at the School of Psychology and Psychiatry at Monash University on 03 9902 4162 or claudine.kraan@monash.edu. Alternatively, you may contact Dr Darren Hocking at the School of Psychology and Psychiatry at Monash University on 03 9902 0467 or darren.hocking@monash.edu.

 

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4 Responses to Step Ahead Project

  1. jenny westbrook says:

    I am 39 year old mother of four children, I carry the fragile x and have passed it on to my children .All four of my children have epilepsy two have autism and one has incontinence one of my daughters has scoliosis in both the upper and lower spine, all have learning difficulties i wish i had known that such an association existed years ago.

  2. Steph Davis says:

    Hi Iam a mother of 4 aged 27 , 3 of my children have fragile x, my 3 child he has the most server of the repetitions for fragile x syndrome, he also has austim aswell. I only found out about fragile x last year (2010) when testing was arranged for my 3rd child them testing was arranged for the rest of us.

  3. Teresa Logan says:

    I know I am lucky in the scheme of things, my case could be a lot worse in comparison to some. I have 2 children my first child doesn’t seem to be affected, he is a boy, now 6yrs. My 4yr old daughter has Fragile X, recently diagnosed and it was passed to her from me. I don’t think I’m affected, but I’m not an expert. What is frustrating me is that on some levels she operates as a 4yr old but on others she’s only 2yrs old…It’s early days yet, but my wish is that there is testing freely available and compulsory, to all women to find out if they are carriers,before they have children. For the child’s sake and the family’s.

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