Fragile X Australia Podcast: Recent Episodes
Alba Prime
Fragile X Association of Australia is a member-based organisation which serves as the peak body for the Fragile X community across Australia.
We offer information, support, education, advocacy and referrals to individuals who are impacted by Fragile X-associated disorders and to their families, carers and health and disability service providers.
Visit http://fragilex.org.au
Occupational Therapist Bev Kadish breaks down what sensory processing is and how to build a personalised sensory diet for someone with Fragile X syndrome, covering deep pressure input, sensory snacks, breathing techniques, the emergency backpack, and the withdrawal area.
02:00 What is sensory processing?
06:18 What is a sensory diet?
09:44 Regulation and feeding the need
11:01 Structuring a sensory diet: meals and snacks
16:41 Deep pressure input for organising the nervous system
22:33 Sensory snacks: fidget, vibration and oral input
25:38 Breathing techniques and regulation tools
30:25 The emergency backpack and the withdrawal area
36:35 Knowing when a sensory diet is working
Four researchers share the latest on Fragile X research, clinical trials and support tools. Professor David Hessl covers the International Fragile X Premutation Registry, Associate Professor Jessica Klusek shares what's being learned about the FMR1 premutation in women, Associate Professor Erin Turbitt gives an update on the NurtureNextGen project, and Katie Clapp from FRAXA Research Foundation covers the latest clinical trial pipeline.
00:42 Professor David Hessl: International Fragile X Premutation Registry
13:25 Associate Professor Jessica Klusek: The FMR1 Premutation in Women
33:23 Associate Professor Erin Turbitt: The NurtureNextGen Project
46:07 Katie Clapp: FRAXA Research Foundation, research and clinical trial update
Dr Jonathan Cohen MD, Medical Director of the Fragile X Alliance Clinic in Melbourne, discusses medications and Fragile X Syndrome. Dr Cohen is a regular presenter in Australia, New Zealand and internationally on topics associated with Fragile X, with a clinical practice encompassing both children and adults living with Fragile X syndrome or FMR1 premutation conditions.
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 2024 * WHAT 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 range * WHAT 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.
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.
Webinar recorded 10 August 2022.
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.
Announcing the first Australian study of adults living with Fragile X syndrome. From early 2024, our collaboration with Centre for Disability Studies (at University of Sydney) will:
Explore the need for and effectiveness of supports for the ADULTS, particularly those in residential care / group home settings
Explore the need for and effective supports for CARERS of the adults living at home, eg supports for future care planning and transition in later life
Produce best practice information resources and care strategies for the disability and aged care workforce
Generate recommendations and advocate for health policy and practice improvements.
From our FX Research Roundup webinar 13 July 2023.
r Honey Heussler describes the scientific rationale underpinning the RECONNECT cannabidiol (CBD) FX clinical trial currently underway in Adelaide, Brisbane, Melbourne & Sydney. The RECONNECT study is looking to understand whether the (Zynerba) ZYGEL CBD transdermal gel product helps in some behavioural issues associated with Fragile X syndrome. Dr Honey Heussler outlined the working of the human endocannabinoid system, the impact of Fragile X syndrome on that system, and how cannabidiol (non-THC CBD) can provide regulation and control. Dr Heussler also outlined the operation and findings of the earlier clinical trial phases which have preceded Zynerba’s current RECONNECT study. The RECONNECT study remains open in Australia until 31 March 2024. Individuals with a diagnosis of Fragile X syndrome and who are aged 3-22 years old and have behavioural symptoms may be eligible to participate in the study. From our FX Research Roundup webinar July 2023.
Bev Kadish is an occupational therapist who has supported children and adults who have Fragile X syndrome through the Fragile X Alliance clinic and her own private practice.
Bev discussed the key role sensory processing plays in daily life, and how the sensory processing disorders some people with Fragile X syndrome experience can impact behaviours and daily living. Bev discussed a range of strategies to help give the person who has Fragile X the best chance to feel calm, alert and organised as a result of appropriate sensory input.
Sleep disturbance is common in children who have Fragile X syndrome. Sleep specialist Dr Helen (Honey) Heussler unpacks what lies behind the problems initiating and maintaining sleep. She discusses normal sleep development, sleep cycles, the impact that neurodevelopmental disorders such as Fragile X syndrome have on sleep patterns, and predictors for sleep disorders in children. Dr Heussler presented practical strategies for environmental and behavioural modifications to help achieve good sleep for children with Fragile X syndrome.
Dr Heussler is a Developmental and Behavioural Paediatrician with a dual qualification in Sleep Medicine. She is Medical Director of the Child Development Program at the Children's Health Queensland Hospital and Health Service in Brisbane, and runs a Fragile X Clinic at the Queensland Children’s Hospital.
In the second part of this webinar sleep specialist Dr Jasneek Chawla spoke about a 3-year multi-centre study to enable early effective sleep interventions to improve functional outcomes and quality of life in children with neurodevelopmental disorders. The study is run through Queensland Children’s Hospital, Children’s Hospital at Westmead (Sydney), and Royal Children’s Hospital Melbourne. Parents of children with Fragile X syndrome are invited to participate in the multiple phases of the study, by way of surveys etc. Overall goal – to develop national guidelines for the diagnosis and management of sleep problems in children with neurodevelopmental disorders. Webinar recording from May 2023.
In this webinar, Dr. Marsha Braden is finishing up a lecture on learning and teaching individuals with Fragile X Syndrome.
The lecture focuses on matching the phenotype and learning characteristics of those with Fragile X Syndrome to reading and math programs.
Dr. Braden provides examples of reading programs that use a visual global learning style, such as the Logo Reading System, and emphasizes the importance of comprehension in learning to read.
For math, Dr. Braden recommends teaching functional math skills, such as number identification and shape identification, rather than spending time on facts and math in general.
She also introduces the Equivalence Board, which matches objects on one side of the board with those on the other side, as a teaching tool for individuals with Fragile X Syndrome.
In this webinar, Dr. Marsha Braden gives a lecture on learning styles and processes for individuals with Fragile X syndrome. She emphasizes the importance of understanding that individuals with Fragile X never stop learning
Dr. Braden explains that there is a lack of a particular protein that is important for learning and cognition, which results in anxiety, short-term memory problems, and attention problems.
Individuals with Fragile X prefer to learn simultaneously rather than sequentially and have a compulsive need to close things out.
Dr. Braden highlights that imitation is a significant skill for these individuals to learn.
Second in 2-part series on Understanding Behaviours and Fragile X syndrome, with psychologist and special educator Dr Marcia Braden PhD.
Dr Braden presents an extensive discussion on strategies to moderate difficult and challenging behaviours of individuals who have Fragile X syndrome.
The key focus in this webinar is on males who have Fragile X syndrome.
November 2022.
It is noted that this webinar is principally focussing on males who have Fragile X syndrome.
In an earlier webinar on Females and Fragile X syndrome (February 2022), Dr Braden addressed strategies to support learning and behavioural challenges for girls and women who have Fragile X syndrome.
The lecture is focused on Fragile X syndrome in males, with a follow-up lecture for females.
The first part of the lecture is focused on defining the phenotype and the second part will address interventions and strategies.
The genetic condition affects the brain and causes a spectrum of behavioral conditions, which can limit individuals' interaction and opportunities in society.
Behavioral challenges in Fragile X syndrome are discussed, and intervention strategies are introduced to support individuals with this condition.
The lecture emphasizes that environmental and medical conditions affect the intensity, frequency, and duration of behavior problems.
The anxiety piece is discussed in detail, and a video clip is shown to illustrate the difficulties of engaging individuals with Fragile X syndrome.
Overall, the lecture highlights the importance of individualized behavioral programs and environmental supports to help individuals with Fragile X syndrome overcome their challenges.
The Pre-Implantation Genetic Diagnosis Testing technique can be used in an IVF process to differentiate embryos before transfer.
Dr Mark Livingstone, IVF specialist from Genea, joined our webinar series in September 2022 to discuss the PGD process generally, and in relation to carriers for Fragile X who are pre-mutation or full mutation carriers.
Essential viewing for a clear understanding of the genetics of Fragile X, and how the Fragile X gene expansion is passed on in families.
With a good overview of how Fragile X carrier testing is conducted.
Dr Alison Archibald, Group Leader – Reproductive Genetic Counselling at Victorian Clinical Genetics Services, presented this webinar in August 2022.
The lecture is about Fragile X syndrome in males, and a follow-up lecture for females will be given later. The condition affects the brain, causing various behavioral conditions that limit individuals' interactions and opportunities in society. The lecture discusses the phenotype of Fragile X syndrome and offers intervention strategies to support those affected by the condition.
The intensity, frequency, and duration of behavior problems are affected by environmental and medical conditions. Anxiety is a significant challenge for individuals with Fragile X syndrome, and the lecture emphasizes the need for individualized behavioral programs and environmental supports to help them overcome their challenges.
Watch the video here: https://www.youtube.com/watch?v=BHYImbKraqw
Sensory processing difficulties are very common for children and adults who have Fragile X syndrome, and can impact daily living and behaviours.
Bev outlined 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; maintaining self-regulation for optimal performance. Bev gave approaches to managing sensory processing disorders across a range of environments- home, school, day care centres etc to help give the person who has Fragile X the best chance to feel calm, alert and organised as a result of appropriate sensory input.
Bev Kadish is an occupational therapist who has been working with children and adults with Fragile X syndrome for over 20 years, through her own practice (Write Start) and with the Fragile X Alliance Clinic in Melbourne.
The webinar was held on 31 May 2022, and was preceded by a webinar for CARERS/FAMILY MEMBERS on Sensory Processing and Fragile X syndrome on 24 May 2022.
Watch the video here: https://www.youtube.com/watch?v=XvH2MLliuEA
The speaker, Bev Kadish, is an occupational therapist with years of experience in working with and supporting children and adults who have Fragile X syndrome.
Our webinars in May focus on the role Sensory Processing plays in daily life and how the sensory processing disorders some people with Fragile X syndrome experience can impact behaviour. The webinars will cover strategies to help give the person who has Fragile X the best chance to feel calm, alert and organised as a result of appropriate sensory input.
Watch the video here: https://www.youtube.com/watch?v=2V7SJkPCz9o
Girls and women who have Fragile X syndrome are affected differently than boys who have Fragile X. The strengths, challenges, and deficits which they often encounter are best supported with specific understanding and strategies.
Dr Marcia Braden PhD, licensed psychologist and internationally known for her work in Fragile X over many years, will discuss and answer questions in this webinar.
Dr Braden will highlight the impact of the anxiety associated with Fragile X syndrome and how it presents at different developmental levels. She will talk about learning deficits which can be a challenge for girls and women who have Fragile X syndrome and she’ll focus on strategies which will support successful learning and relationship development.
Watch the video here: https://www.youtube.com/watch?v=Sp1nAuACrC8
Dr Marcia Braden with a deep dive on ANXIETY, recorded 13 November 2021.
This recording will be helpful for everyone caring for, supporting, working with or educating someone who has Fragile X syndrome.
Learn what's behind the Anxiety which impacts daily living for so many people who have Fragile X. How is this anxiety different to everyday anxiety in the general population? What triggers the anxiety? What are the emotional and behavioural responses a person may have to this anxiety? What supports can you put in place that will be most helpful to the person who has Fragile X syndrome?
Dr Marcia Braden PhD, psychologist, educator and FX specialist, presentation and Q&A for Fragile X Association of Australia. www.marciabraden.com
Watch the video here: https://www.youtube.com/watch?v=SFiDVVR7Iyc
Recording of presentation by Dr Marcia Braden PhD, 2 March 2020, Melbourne Australia. Daily Living Skills & Learning Strategies - Supporting children who have Fragile X syndrome.
Covering:
o how the lack of the FMRP protein impacts brain development
o how neurobiological factors affect daily living and learning skills
o how to structure the environment at home and in the classroom to account for the cognitive profile of Fragile X syndrome (the strengths and weaknesses in cognition and learning)
o eating, sleeping and toileting concerns and motor delays
o hyperarousal and anxiety
o structuring the environment to take account of anxiety and executive functioning deficits
o visual supports to aid in learning
[ See also: "Understanding Anxiety in Fragile X syndrome" - recording of webinar by Dr Marcia Braden, 17 November 2021 youtube.]
This presentation by Dr Braden was supported by an educational grant from Zynerba Pharmaceuticals.