Video: When Should a GP Consider a Diagnosis of Fragile X?
When should a GP consider a diagnosis of Fragile X, and why is a diagnosis important?
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Video: The link between Fragile X and Primary Ovarian Insufficiency
Around 25% of women who are carriers of Fragile X will undergo Primary Ovarian Insufficiency / early menopause. If anyone has undiagnosed early menopause they should be screened for the FMR1 premutation.
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Video: Health Management and Fragile X: A Parent’s Perspective
In this 3-minute video Cynthia reflects on the role a GP has in managing Dan’s health, and the challenges posed by Dan’s inability to communicate health issues to those around him.
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Video: Diagnosis: A parent’s perspective
At a very early stage Mike and Helen Tozer could see the challenges with their son Josiah’s development – across the board Josiah was missing milestones. They were very concerned to understand the cause of the delay.
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Early Menopause/Primary Ovarian Insufficiency – When to consider Fragile X
Young women with the FMR1 pre-mutation ie, young women who are carriers of Fragile X, are at risk of premature ovarian failure.
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Fragile X Premutation Carrier / FXTAS clinic in Sydney
Fragile X Carrier Family / FXTAS Clinic is a dedicated monthly service for carriers of Fragile X, initially for those who have some concerns about or may be at risk of developing FXTAS – Fragile X-associated Tremor Ataxia syndrome.
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Women’s Health and the Fragile X Premutation
This booklet is designed to encourage women who are Fragile X premutation carriers to take control of their own health and to pass on this information to their families and if needed, health care professionals.
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Working with Fragile X: The challenge of finding mainstream employment
The challenges faced by people who have Fragile X syndrome in securing employment opportunities are many. In this 3-minute film Zoe, Marty, and Rosie share their experiences in looking for work.
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Video: The Role of GPs in the care of people with developmental disabilities such as Fragile X
At the HealthEd GP Education Day held in Melbourne in October 2015, Dr Jane Tracy from the Centre for Developmental Disability Health Victoria gave an excellent presentation titled “GPs, Healthcare and Patients with Intellectual Disability and/or Autism”.
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