FXPOI: What Do I Need to Know? Dr Amanda Vincent

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.

Second in a 2-part series presented by psychologist Dr Jennifer Epstein to help parents and carers understand the type of approach that may be most successful for their child or adult, based on individualised factors, in achieving success with toileting skills.This webinar focusses on support strategies for children over the age of 10 and older through adulthood.Part A in this series provides very useful background about the trajectory of toileting skills development for individuals with Fragile X syndrome, and the challenges that the delays associated with Fragile X syndrome present. It is recommended listening. Dr Epstein is co-founder of South Shore Psychological Services in the US (Massachusetts).She is a regular presenter for the National Fragile X Foundation in the US, and has many years of experience in Fragile X clinics and supporting individuals with Fragile X syndrome in her practice. Toileting Part B was recorded 2 December 2023.

Communication, sensory, motor, physiology & cognitive delays are commonly associated with Fragile X syndrome.These delays can pose challenges for building toileting skills in childhood and retaining those skills throughout life. Psychologist Dr Jennifer Epstein joined our webinar series to help parents and carers understand the type of approach that may be most successful for their child or adult, based on individualised factors.This webinar focusses on support strategies for children to the age of 10. Dr Epstein shared data from the US FORWARD Study which illustrates toileting skill development trajectories for female and male children with Fragile X syndrome, from early childhood to teens. Dr Epstein is co-founder of South Shore Psychological Services in the US (Massachusetts).She is a regular presenter for the National Fragile X Foundation in the US, and has many years of experience in Fragile X clinics and supporting individuals with Fragile X syndrome in her practice. Part A November 2023.Part B focussed on support strategies for older children and adults and was recorded on 2 December 2023.

Fragile X-associated anxiety has a significant impact on daily living and on behaviours for children & adults with Fragile X syndrome.Psychologist and special educator Dr Braden discusses how this anxiety is different to that experienced by neurotypical individuals.She presents practical tips and strategies for helping an individual to manage the anxiety and achieve the best outcomes.Essential viewing for parents, carers, family members, educators, therapists, disability support workers, employers and everyone who is supporting a child or an adult with Fragile X syndrome.This webinar, presented in November 2023, is an update of Dr Braden’s earlier webinar on Anxiety. It was co-hosted by Fragile X Association of Australia and Fragile X New Zealand.