IVF & PGD for Fragile X PM Carriers (Dr Mark Livingstone)

Presented by Dr Alex Fois BSc (Adv; Hons I, Medal) BM BCh (Oxon) MRCP FRACP PhD. Dr Fois. Dr Fois is a specialist neurologist and has a subspecialty interest and training in movement disorders including Parkinson's disease, tremor, ataxia, dystonia, and in the injection of botulinum toxin for the treatment of neurological symptoms. This webinar provides a comprehensive overview of Fragile X-associated Tremor Ataxia syndrome (FXTAS), a late onset condition which affects some carriers of the Fragile X premutation. Covering:  differentiating between conditions caused by FMR1 gene premutation/mutation; cause of FXTAS; incidence; symptoms; diagnostic pathways; research; management of symptoms.Dr Alex Fois is based in Sydney and practices at Harbour Neurology Group (North Sydney), Macquarie University Hospital, and Fraser Coast Neurology (Hervey Bay, Queensland).   Website:https://dralexfois.com.au/

Presented by Bev Kadish, occupational therapist, from WriteStart OT. Discussion of sensory diets as a personalized plan of sensory activities designed to help individuals better regulate their sensory systems and improve focus and attention. It is a structured approach to providing the right amount and type of sensory input throughout the day. Individuals with Fragile X syndrome often have difficulties with sensory processing and regulation, and sensory diets may assist with helping the child or adult remain calm, focused and organised. The webinar outlines: * how to create sensory diet * an example of a proactive sensory diet * activating and calming movement activities * deep pressure input/proprioception * heavy work activities * maintaining regulation (fidget and focus) * vibration * oral input *breathing cards * auditory system * visual input *olfactory input *withdrawal area * calming sensory room or space * community based activities * list of sensory resources Bev is an experience OT who has supported many children and adults living with Fragile X syndrome, through her own private practice and the Fragile X Alliance Clinic in Melbourne.Many thanks to the Qantas Side by Side Foundation grant for supporting this webinar.

Presented by Clinical A/Prof Amanda Vincent, MBBS, BMed Sci, PhD, FRACP. Dr Vincent is a clinician researcher combining clinical practice in menopause with menopause related research, translation and education. (Endocrinologist, Menopause Clinic, Monash Health; Head, Early menopause Research, MCHRI, Monash University; Co-Chair POI guideline development group) Dr Vincent's comprehensive presentation covers:NEW INTERNATIONAL GUIDELINE RECOMMENDATIONS on Premature Ovarian Insufficiency published December 2024WHAT IS POI? How common is it? What causes POI?WHAT IS FXPOI? And what causes it?WHAT ARE THE RISK FACTORS FOR FXPOI, including CGG repeat rangeWHAT ARE THE IMPACTS OF FXOI? What are the symptoms?HOW ARE POI/ FXPOI DIAGNOSED? What are the barriers to diagnosis?HOW DO YOU MANAGE FXPOI for your health and wellbeing? Therapies? Other options?IF YOU HAVE FXPOI - what are the essentials?WHAT ARE THE FERTILITY ISSUES associated with FXPOI?WHERE TO SEEK HELP about POI.Dr Vincent profiled new resources on POI for WOMEN and HEALTH PROFESSIONALS:NEW FACTSHEETS & OTHER RESOURCES about POI, co-designed by women with early menopause/POI@ https://www.eshre.eu/Guidelines-and-L... Note: Dr Vincent is Past President of the Australasian Menopause Society and current board member of the International Menopause Society. Webinar production and recording by ‪@albaprime‬ for Fragile X Association of Australia

Dr Jonathan Cohen MD presents a discussion of conditions associated with Fragile X syndrome and the types of medications which may be recommended to treat these conditions, which include anxiety, ADHD, aggression and self-injury, OCD, mood disorders, epilepsy, and sleep disorders.Dr Jonathan Cohen MD is the Medical Director of the Fragile X Alliance Clinic in Melbourne.https://fragilex.com.au/Dr Cohen is a member of the FXAA Fragile X Scientific Clinical and Research Committee.He is a regular presenter in the FXAA webinar series.

Presented by Dr. Jonathan Cohen, MD, Medical Director of Fragile X Alliance Clinic and Genetic Clinics Australia, and introduced by Andrea Lee, Executive Director of the Fragile X Society of New Zealand, this episode provides a comprehensive update on the current understanding of the Fragile X (FMR1) premutation.Dr. Cohen delves into Fragile X Premutation Associated Conditions (FXPAC), with a particular focus on FX-Associated Neuropsychiatric Disorders (FXAND). The discussion also includes a brief overview of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) and Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).We extend our gratitude to the Qantas Foundation Side by Side grant program for supporting the production of this valuable webinar.

Where an individual has a co-diagnosis of Fragile X syndrome (FXS) and Autism Spectrum Disorder (ASD) it’s essential to ensure that effective and targetted strategies are put in place.  Dr Marcia Braden says “While there are some similarities in behaviours associated with the two conditions, it's important that allied health, disability support teams, educators and parents clearly understand the differences between FXS and ASD.     It's often assumed that the diagnosis of ASD drives programming of supports for a person with a dual diagnosis, but the anecdotal evidence doesn't support that." In this webinar Dr Braden compared and contrasted learning style, social interaction and behavioural strategies taking into account FXS and ASD.