Measuring quality of life is important, particularly in clinical trials, to capture the broader impacts of treatment beyond just measuring seizures.  To help understand what outcome measures are and why they are important to spoke to Dr Jenny Downs, Program Head of Disability Research at the Telethon Kids Institute in Perth.  You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. Links:  Information on Quality of Life Inventory-Disability (QI-Disability) Validation study of QI-Disability Want to help developing quality of life measures for children with genetic epilepsy? See omnystudio.com/listener for privacy information.

SCN2A Insights

Quality of Life Measures

Ciitizen's mission is to empower seven billion citizens across the planet with all of their health data. When you control your data, you have more options. For your own care, and to advance research for others. Observational Studies and real-world evidence are critical to the drug development process. Ciitizen has developed a new method to make this process easier. A next-generation, digital Observational Study for SCN2A-related disorders is expected to facilitate: Informing clinical researchers how a disease changes over time Enabling better endpoint selection to use in clinical trials The connection between mutation types and symptoms to facilitate targeted therapies Reducing the time it takes to study new medicines in clinical trials Speeding up the time to get therapeutics to patients The use of data as a placebo (instead of actual patients) in a clinical trial This study will complement the International SCN2A Natural History and real-world evidence studies for SCN2A-related disorder patients. Become a Ciitizen and help advance research and accelerate treatments by clicking here! Please note that this is only available in the US however Ciitizen plan to expand globally starting in April. Links: Ciitizen Webinar on Ciitizen hosted by FamilieSCN2A Foundation See omnystudio.com/listener for privacy information.

Ciitizen

Children, adolescents and adults with autism can have significant sleep problems. Trouble getting to sleep, waking at night and early morning waking are some of the most common. Prof Amanda Richdale, from LaTrobe University talks with us about why sleep problems occur in autism.  You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. Links:  Sleep in children with autism spectrum disorders – Review article by Amanda Richdale Sleep wake rhythms in adults with autism spectrum disorders – Research by Amanda Richdale Raising Children – Website Solving Sleep Problems in Children With Autism Spectrum Disorders – Book

Sleep in Autism

Simons Searchlight is an initiative of the Simons Foundation Autism Research Initiative (SFARI) that aims to better understand genetic neurodevelopmental conditions, specifically those associated with autism spectrum disorder (ASD). To better understand the work and current research of Simons Searchlight we speak to Jennifer Tjernagel, senior project manager. You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. Links:  Simons Searchlight Simons Foundation

Simons Searchlight

Launched in 2006, SFARI is a scientific initiative within the Simons Foundation's suite of programs. SFARI’s mission is to improve the understanding, diagnosis and treatment of autism spectrum disorders by funding innovative research of the highest quality and relevance.To better understand the work and current research of SFARI we speak to Dr John Spiro, Deputy Scientific Director of SFARI. You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. Links:  SFARI Simons Foundation Podcast on Kevin Bender's research

SFARI

Angel Aid provides relief for mothers of children with rare disorders, helping them learn tools of self-care, and be listened to without judgement. To better understand the issues facing carers and the work of Angel Aid, we speak to Cristol Barrett O’Loughlin Founder and CEO of Angel Aid.  You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. Links:  Angel Aid Genetic Epilepsy Team Australia conference

Angel Aid

Lennox-Gastaut syndrome (LGS) is an epilepsy syndrome that can develop over time from childhood seizures that remain uncontrolled by treatments. It's common for children with genetic epilepsy to develop LGS which can then further exacerbate their symptoms. To better understand LGS, we speak to Dr Tracy Dixon-Salazar, Director of Research and Strategy for the Lennox-Gastaut Foundation.  You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. Links:  Lennox-Gastaut Foundation

Lennox-Gastaut Syndrome

The global coronavirus pandemic has brought significant challenges for us all, but particularly for children with developmental and epileptic encephalopathies. In this episode of SCN2A Insights we are joined by Heather Renton of SWAN and Sue Lenzi, Mental Health Social Worker to discuss how to help children manage through the pandemic.  You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. Links:  Syndromes Without a Name (SWAN) Learning at home during a time of crisis - Australian Coalition for Inclusive Education Learning from home - information for parents from Victorian Department of Education

Supporting Children

The global coronavirus pandemic has brought significant challenges particularly for those with children with developmental and epileptic encephalopathies. In this episode of SCN2A Insights we are joined by Heather Renton of SWAN and Sue Lenzi, Mental Health Social Worker to discuss strategies for carers during the pandemic.  You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. Links:  Syndromes Without a Name (SWAN) Beyond Blue - Coronavirus pandemic resources This Way Up - online mental health courses

Strategies for Carers

Want to better understand better how the COVID-19 pandemic may impact children and adults with genetic epilepsy and developmental and epileptic encephalopathies (DEEs)? Listen to these tips and information from Prof Ingrid Scheffer. This bonus episode of SCN2A Insights is produced by Genetic Epilepsy Team Australia for the benefit of those with genetic epilepsy and DEEs and their families.  You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app. Links: Genetic Epilepsy Team Australia SCN2A Australia Information on COVID-19 from Australian Dept of Health Coronacast - daily podcast on COVID-19 Social distancing and COVID-19 See omnystudio.com/listener for privacy information.

COVID-19

Global Genes connects, empowers and inspires the rare disease community. To learn more about Global Genes' mission and the support they can give organisations around the world we spoke to Kimberly Haugstad, CEO of Global Genes. Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A. Leave a review and subscribe via Apple Podcasts.  You can also find SCN2A Insights on Spotify, and Google Podcasts or in your podcast app. Links: Global Genes RARE Drug Development Symposium RARE Patient Advocacy Summit 

Global Genes

Global Genes connects, empowers and inspires the rare disease community. To learn more about Global Genes' mission and the support they can give organisations around the world we spoke to Kimberly Haugstad, CEO of Global Genes. Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A. Leave a review and subscribe via Apple Podcasts.  You can also find SCN2A Insights on Spotify, and Google Podcasts or in your podcast app. Links: Global Genes RARE Drug Development Symposium RARE Patient Advocacy Summit See omnystudio.com/listener for privacy information.

Having a child with SCN2A can have a significant impact on the whole family. To mark International SCN2A Awareness Day on February 24th we interviewed three parents about having a child with SCN2A. Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A. Leave a review and subscribe via Apple Podcasts.  You can also find SCN2A Insights on Spotify, and Google Podcasts or in your podcast app. Audio Timeline / Chapters: 00:00 - 00:47 Introduction 00:47 - 22:02 Angie 22:02 - 35:27 Nicolas 35:27 - 46:52 Kris 46:52 - 48:29 Summary Links: Mighty and the Bean SCN2A Europe  

Family Stories

Families can find it challenging dealing with the healthcare system when children with genetic epilepsy and developmental epileptic encephalopathies are unwell. To help identify needs and plan towards improving services, Genetic Epilepsy Team Australia convened a roundtable including families, clinicians and researchers. In this episode Kris Pierce discusses the outcomes of the roundtable and plans for the future. Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A. Leave a review and subscribe via Apple Podcasts.  You can also find SCN2A Insights on Spotify, and Google Podcasts or in your podcast app. Links Genetic Epilepsy Team Australia Genetic Epilepsy Clinics - podcast episode 

Exploring Families' Needs

What is the relationship between loss of function SCN2A mutations and autism? How can studying SCN2A mutations teach us about cellular mechanisms underpinning autism? To help answer these questions we talk to A Prof Kevin Bender from UCSF Center for Integrative Neuroscience. Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A. Leave a review and subscribe via Apple Podcasts.  You can also find SCN2A Insights on Spotify, and Google Podcasts or in your podcast app. Links A Prof Kevin Bender - USCF Center for Integrative Neuroscience Story on CRISPR Activation research  

Loss of Function & Autism

Listen to SCN2A Insights to keep up to date with the latest research in SCN2A, genetic epilepsy and rare genetic disorders. Hosted by Ms Kris Pierce, RARE Global Advocacy Leadership Council member, and Dr David Cunnington, parents of Will, who has SCN2A.

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SCN2A Insights

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