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International Fragile X Premutation Registry

International Fragile X Premutation Registry

Join the Registry - Enrol Online Online

The purpose of the Registry is to build a database listing of a large, diverse group of Fragile X premutation carriers and their family members worldwide who are interested in contributing to future research on the Fragile X premutation. The Registry was established by clinicians, researchers and FX groups around the world who partnered with the National Fragile X Foundation (US) and the UC Davis MIND Institute in California - Fragile X Australia was a foundation partner. The Registry is coordinated by an advisory panel led by Dr David Hessl PhD from UC Davis Health. Karen Lipworth (FXAA Board member) and Dr Jonathan Cohen (Fragile X Alliance) are the Australian representatives on the Panel.

Sensory Processing and Fragile X syndrome

Sensory Processing and Fragile X syndrome

webinar for family members / carers

Join us on 24th May for a discussion by occupational therapist Bev Kadish on Sensory Processing and its importance in daily life, and how the sensory processing disorders which some people with FXS experience can affect behaviour. Bev will outline strategies to help give the person with Fragile X the best chance to feel calm, alert and organised as a result of appropriate sensory input. Followed by Q&A. This webinar is geared for FAMILIES / CARERS of people of any age who have Fragile X syndrome, and others in their circle of support. WEBINAR FOR THERAPISTS: On 31 May Bev will run a similar webinar for therapists on Sensory Processing Disorders with a focus on Fragile X syndrome.

Sensory Processing Disorders - focus on Fragile X syndrome

Sensory Processing Disorders - focus on Fragile X syndrome

Webinar for therapists

Join us 31 May as occupational therapist Bev Kadish provides a good understanding of Sensory Processing Disorder particular to individuals who have Fragile X syndrome. Bev will discuss the Fragile X phenotype relating to the freeze, fight, flight response. She’ll cover the importance of creating a sensory diet and how to implement it practically; what sensory integration therapy is and how it helps with Sensory Processing Disorders; and maintaining self-regulation for optimal performance. Bev will outline approaches to managing sensory processing disorders across a range of environments – home, school, day care centres etc. This webinar is geared to therapists. Bev is holding a webinar on 24 May for family members/carers on the same topic.

Watch on REPLAY now

Watch on REPLAY now

Medications and Fragile X syndrome

Dr Jonathan Cohen MD discussed the conditions treated in Fragile X syndrome and the types of medication which may be recommended for children or adults who have Fragile X syndrome, with a particular focus on ANXIETY and ADHD.. Dr Cohen is a general practitioner who specialises in Fragile X disorders. He has been seeing children and adults with Fragile X syndrome and the Fragile X premutation for many years from the Fragile X Alliance Clinic in Melbourne, and regularly presents for Fragile X Association of Australia.

Watch on REPLAY now

Watch on REPLAY now

Fragile X premutation and POI : What do I need to know?

This webinar focussed on Fragile X-associated Primary Ovarian Insufficiency (FXPOI) and early menopause. Dr Vincent covered health considerations and symptom management for anyone who has symptoms of FXPOI or early menopause, or as a FX premutation carrier may be at risk of developing them in the future. Dr Vincent also discussed the risk factors for a Fragile X premutation carrier of developing FXPOI. She also touched on fertility management considerations for young women who may be at risk of fertility issues related to the Fragile X premutation. The webinar was supported by the Australasian Menopause Society.

Watch on REPLAY now

Watch on REPLAY now

Females and Fragile X: supporting girls and women with the challenges Fragile X syndrome can present

Girls and women who have Fragile X syndrome are affected differently than boys who have Fragile X. The strengths, challenges, and deficits which they encounter are best supported with understanding and specific strategies. Dr Marcia Braden, licensed psychologist and internationally known for her work in Fragile X, joined us live from Colorado. She highlighted the impact of FX-associated anxiety and how it presents at different developmental levels, talked about learning deficits which can be present, and strategies which will support successful learning and relationship development. Watch on REPLAY now

Watch on REPLAY now

Watch on REPLAY now

Understanding Anxiety and Fragile X syndrome

Internationally renowned FX expert, psychologist and educator Dr Marcia Braden PhD joined us live from Colorado for a deep dive on ANXIETY as a key trait for people who have Fragile X syndrome. Causes. Triggers. Responses. Supports that help. An informative session for parents, carers, therapists, educators, disability support workers - everyone supporting a person with Fragile X syndrome. Watch the video recording on our youtube channel.

Watch on REPLAY now

Watch on REPLAY now

The challenges for less or non-verbal individuals with Fragile X syndrome

In this second webinar/Q&A on COMMUNICATING AND CONNECTING Bev Sher discussed the challenges those who have low level verbals skills or are non-verbal. Bev covered: the difference between speech and language; how Fragile X-specific presentations such as trait anxiety and hyper-arousal interfere with language development; motor speech difficulties such as dyspraxia; the importance of parent responsiveness for language stimulation; how visuals and Augmentative/Alternative Communication can aid comprehension as well as expression; optimising hearing and oral motor development; using social stories to support receptive language; and the relationship between speech and feeding difficulties.

Margaret's Story: The unfolding discovery of the Fragile X gene | Read online

Margaret's Story: The unfolding discovery of the Fragile X gene | Read online

By Prof Gillian Turner AO with contributions from other leaders in Fragile X discovery

2021 marks the 30th anniversary of the discovery of the Fragile X gene. This brief & very readable history of Australia's involvement in the discovery of the Fragile X gene is told from two perspectives. Firstly from the perspective of one of the Australian families who had been searching for answers to the cause of their child's intellectual disability. Then from the perspective of researchers involved in the international race to find the gene causing Fragile X syndrome. Drs Gillian Turner and Grant Sutherland describe their initial discoveries of a test for the fragile site on the X chromosome. Drs Randi and Paul Hagerman discuss their discovery of the conditions associated with Fragile X, which are FXTAS and FX-related Primary Ovarian Insufficiency. Prof Ted Brown provides an overview of Australian developments in reproductive carrier screening for conditions including Fragile X syndrome.

Watch on REPLAY now

Watch on REPLAY now

The challenges for highly verbal individuals with FX and how we can best support them

This webinar addressed the specific speech, language and social skill difficulties that highly verbal individuals with Fragile X often experience. Discussion of how anxiety, hyperarousal and other traits associated with Fragile X syndrome interfere with language development. Speech & language therapies that support the Fragile X learning style. The components that contribute to successful social interactions as well as the underlying difficulties an individual with Fragile X syndrome may have in social situations.

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Fragile X Association of Australia is a registered charity, funded by donations and fundraising. Donations of $2.00 and over are tax deductible. Your donation will help us support families affected by Fragile X, and to increase awareness of Fragile X associated conditions.

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