Tag Archives: neuropsychiatric disorder

Episode 45: The 2023 International TSC Research Conference

October 19, 2023Episodesautism, autism spectrum disorder, basic research, clinical research, clinical trials, epilepsy research, medical research, neuropsychiatric disorder, research conference, TAND, translational research, TSC, TSC Alliance, TSC research, tsc-associated neuropsychiatric disorders, tuberous sclerosis, tuberous sclerosis complextsc-now

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On this episode of TSC Now, host Dan Klein recaps the 2023 International TSC Research Conference: Fueling the Future held September 7-9, 2023, in Washington, DC. The conference brought together over 200 researchers from around the world representing a wide array of specialties and the entire spectrum from basic science to clinical research.

The comprehensive three-day agenda included plenary sessions, breakout group discussions, a poster session and reception, as well as an Early Career Research Symposium during which early-stage investigators had the opportunity to report on their cutting-edge research, network, and learn about the diverse paths forward in the field of TSC research. To learn more about how the conference came together, what was discussed and what are some of the outcomes coming from those discussions Dan interviewed the two Co-Chairs of the conference.

First, Dan spoke with with Shafali Jeste, MD, (01:42) Professor of Pediatrics and Neurology at the USC Keck School of Medicine, and the Las Madrinas Chair, Chief of Neurology and Co-Director of the Neurological Institute at the Children’s Hospital, Los Angeles. They discuss the role of the Co-Chair in the planning and execution of the conference, how bringing in outside experts create new avenues for research and collaboration, and how recent clinical trials may provide a blueprint for the standard surveillance and care for infants with tuberous sclerosis complex (TSC).

Next, Dan talks to Rebecca Ihrie, PhD, (14:41) Associate Professor, Cell & Developmental Biology and Neurological Surgery, Vanderbilt University School of Medicine. She shares how basic scientists benefit from interactions with clinical researchers and the TSC community, how new techniques cell biology may allow for more targeted drug testing and how participation in the conference by early-career researchers helps them form connections and determine their future path in research.

Learn more about the 2023 International TSC Research Conference by downloading the program book.

Episode 24: Achieving Universal Health Coverage and Driving Innovative Research Through Global Collaboration

May 29, 2021Episodes#TSCglobalday, aggression, autism spectrum disorder, behaviors, neuropsychiatric disorder, patient advocacy, rare disease, TAND, TSC, TSC Awareness Month, tsc-associated neuropsychiatric disorders, tuberous sclerosis, tuberous sclerosis complex, universal health coveragetsc-now

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It’s the two-year anniversary of TSC Now and we’re celebrating with a new name, the TSC Alliance! If you missed our announcement on May 16, the Tuberous Sclerosis Alliance has changed our name to the TSC Alliance to reflect how the organization has evolved over the years and with the name change we also have a new logo, new branding and a new tagline, “Hope no matter how complex.” Learn more about this evolution.

In recognition of #TSCGlobalDay and TSC Awareness Month, host Dan Klein learns about two global collaborative projects aimed at improving the lives of those living with rare diseases around the world. First, he talks to Matt Bolz-Johnson (02:44), Programme Director of the Collaborative Global Network for Rare Diseases at Rare Diseases International (RDI), who is leading a partnership with the World Health Organization to develop the first Collaborative Global Network for Rare Diseases. RDI envisions a world where people living with a rare disease, no matter where they live, can reach a network of expertise for accurate and timely diagnosis and appropriate care and believe that to strengthen health systems to address the needs of the 300 million people worldwide living with a rare disease requires common strategies and action at the national, regional and global level. The TSC Alliance and the TSC Alliance of India have partnered with RDI to help advance this project and Dan and Matt discuss how advocacy organizations play a vital role in the global network model.

Then, Dan catches up with Professor Petrus de Vries, MBChB, FRCPsych, PhD, Sue Struengmann Professor of Child & Adolescent Psychiatry at the University of Cape Town, South Africa, and Professor Anna Jansen, MD, PhD, Pediatric Neurologist at Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel in Belgium (18:12). Petrus and Anna are Principal and Co-Principal Investigators of the TANDem Project, an international effort to improve the lives of families dealing with TSC-associated neuropsychiatric disorders (TAND) through the development of technology empowering families to self-administer the TAND checklist and access tools to address specific TAND manifestations. They provide an update on the project, what they’ve learned through the first year and a half working with the various clusters, and what the timeline and aims are for the future.

Thank you to everyone who has listened and supported TSC Now over the last two years, we will continue to work hard to provide entertaining and valuable content for families and individuals affected by tuberous sclerosis complex.

Resources and Links

Learn more about Rare Diseases International: https://www.rarediseasesinternational.org/
Learn more about the Collaborative Global Network for Rare Diseases: https://www.rarediseasesinternational.org/cgn4rd/
Watch Matt present on the Collaborative Global Network and Universal Health Coverage: https://www.youtube.com/watch?v=RsDxadzNs7A&ab_channel=RareDiseasesInternational
Learn more about TSC-Associated Neuropsychiatric Disorders: https://www.tscalliance.org/about-tsc/signs-and-symptoms-of-tsc/brain-and-neurological-function/tand/
Learn more about the TANDem Project: https://tandconsortium.org/
Download the TAND Checklist in multiple languages: https://tandconsortium.org/checklists/
Submit tips to the project team on how your family manages TAND manifestations: https://tandconsortium.org/checklists/

Episode 23: Autism Spectrum Disorder in TSC and TACERN

May 1, 2021Episodesautism, autism spectrum disorder, clinical research, clinical trials, epilepsy medication, epilepsy research, infantile spasms, medical research, medications, neuropsychiatric disorder, rare disease, TAND, TS Alliance, TSC, TSC research, tsc-associated neuropsychiatric disorders, tuberous sclerosis, Tuberous Sclerosis Alliance, tuberous sclerosis complextsc-now

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In Episode 23 of TSC Now, host Dan Klein recognizes World Autism Month and Autism Acceptance Month by learning more about autism spectrum disorder (ASD) in tuberous sclerosis complex (TSC). ASD occurs in nearly 50% of children with TSC, significantly higher the rate in the general population (roughly 1% worldwide). Additionally, there is a very clear link between ASD and cognitive impairment in TSC.

To better understand the connection between autism and TSC, and how ongoing research can help expand our knowledge of autism not just in TSC, but more generally, Dan spoke to Mustafa Sahin, MD, PhD, (02:11) Director of both the Translational Neuroscience Center and the Multi-Disciplinary Tuberous Sclerosis Program at Boston Children’s Hospital, and Professor of Neurology at Harvard Medical School. Dr. Sahin is one of the Principal Investigators of the TSC Autism Center of Excellence Research Network, otherwise known as TACERN. TACERN is a coalition of five research hospitals: Boston Children’s Hospital, Cincinnati Children’s Hospital Medical Center, University of Alabama at Birmingham, University of California at Los Angeles and University of Texas at Houston. The group was formed in 2012 and received a grant from the NIH to better understand autism in TSC and to identify potential biomarkers that could predict what children were at higher risk of cognitive manifestations. From that initial grant 80 papers have been published on a wide range of discoveries in TSC. Dr. Sahin shares some of the discoveries from the last decade, how discoveries made in autism in TSC have wider implications for autism in general, the current progress on identifying biomarkers, and what questions remain.

Finally, we are officially two weeks away from the Step Forward to Cure TSC^® Global Virtual Walk-Run-Ride on May 15 and 16, coinciding with TSC Global Awareness Day. This historic, world-wide event will bring together thousands of people from across the globe, all working together to champion the Tuberous Sclerosis Alliance’s efforts to fund groundbreaking research, offer critically needed support programs and increase awareness. Our goal is to raise $700,000 toward that mission, and there is still time for you to donate, register and fundraise to help us hit that goal. However you participate, your support makes a tangible difference in the lives of everyone with TSC. Learn the many ways you can get involved at www.stepforwardtocuretsc.org. Thank you to both the National and Local sponsors for championing this amazing event!

National Sponsors

Local Sponsors

Resources and Links

Learn the basics of autism in tuberous sclerosis complex: https://www.tsalliance.org/about-tsc/signs-and-symptoms-of-tsc/brain-and-neurological-function/tsc-and-autism-spectrum-disorders/
Learn more about World Autism Month: https://www.autismspeaks.org/world-autism-month
Learn more about Autism Acceptance Month: https://www.autism-society.org/get-involved/national-autism-awareness-month/
Learn more about TACERN: http://tscstudy.com/
Learn more about the Developmental Synaptopathies Consortium: https://www.rarediseasesnetwork.org/cms/dsc/
Learn more about the current studies going on at the Sahin lab: http://sahin-lab.org/
Re-Watch the 2021 E-Webinar TAND: Early Interventions featuring Drs. Shafali Jeste and Connie Kasari: https://youtu.be/BlTmJ4qUoMk

Episode 14: Managing Aggressive and Harmful Behaviors During COVID-19 (Part 1)

July 1, 2020Episodesaggression, anxiety, behaviors, COVID-19, neuropsychiatric disorder, sleeplessness, TAND, TS Alliance, TSC, tsc-associated neuropsychiatric disorders, tuberous sclerosis, Tuberous Sclerosis Alliance, tuberous sclerosis complextsc-now

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In episode 14 of TSC Now, host Dan Klein begins the first of an important two-part discussion focused on how parents can begin to address aggressive and harmful behaviors associated with TSC-associated neuropsychiatric disorders (TAND), while continuing to shelter at home during the ongoing COVID-19 pandemic.

For part one of this conversation, Dan is joined by Nathan Call, PhD, BCBA-D, Clinical Director at the Marcus Autism Center and Associate Professor at Emory University School of Medicine, Department of Pediatrics. They talk about how the pandemic has created a perfect storm of altered routines, restrictions and barriers to specialists that can lead to an increase in the frequency and severity of behaviors. Dr. Call also shares the importance of prioritizing what behaviors to address and being flexible with the uncertainty. Finally, Dr. Call talks about some of the barriers preventing families from getting access to behavioral specialists and medication to manage their kid’s behaviors.

The TS Alliance is always here to provide support to parents who are dealing with challenging behaviors or are in crisis. You can call us toll free at (800) 225-6872. Be sure to also check out our website for more information on TAND.

Resources
TS Alliance TAND web page featuring recordings of TAND webinars: https://www.tsalliance.org/about-tsc/signs-and-symptoms-of-tsc/brain-and-neurological-function/tand/
How to Manage Disruptive and Harmful Behavior During COVID-19 Interview with Dr. Call courtesy of the Child Neurology Foundation: https://www.youtube.com/watch?time_continue=688&v=m8tL2xad5i8&feature=emb_logo
Webinar on Effective Behavioral Treatments for TSC-Associated Neuropsychiatric Disorders (TAND) Issues in TSC: https://www.youtube.com/watch?v=c5MWX7VEni4&feature=emb_logo

Episode 6: TSC-Associated Neuropsychiatric Disorders (TAND)

October 15, 2019Episodesaggression, anxiety, autism spectrum disorder, behaviors, depression, neuropsychiatric disorder, sleeplessness, TAND, TS Alliance, TSC, TSC research, tsc-associated neuropsychiatric disorders, tuberous sclerosis, Tuberous Sclerosis Alliance, tuberous sclerosis complextsc-now

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In episode 6 of TSCnow, host Dan Klein talks to Petrus de Vries, MBChB, MRCPsych, PhD, Sue Struengmann Professor of Child and Adolescent Psychiatry at the University of Capetown in South Africa. They discuss tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders, otherwise known as TAND. TAND refers to a whole spectrum of neurological manifestations of TSC, including aggressive behaviors, autism spectrum disorder (ASD), intellectual disabilities, psychiatric disorders, neuropsychological deficits, as well as school and occupational difficulties. Most people with TSC suffer from one or several of these manifestations and it is often one of the most impacting aspect of the disease for both children and adults affected. They talk about the six levels of TAND (behavioral, intellectual, neuropsychological, psychiatric, academic and psychosocial) and the different manifestations people experience within each level. He also talks about the challenges families and caregivers face when seeking treatment for these manifestations.

In response to the growing need of those affected, Dr. de Vries shares how he worked with other experts at the 2012 Consensus Conference to develop the TAND checklist, a tool to help clinicians identify what aspects of TAND a person is struggling with and develop a personal profile for those affected, and the corresponding consensus guidelines for when and how to use the checklist. He also discusses that, while no two people are affected the same and this uniqueness poses significant challenges for diagnosis and intervention, recent research suggests that there are several TAND “clusters” that those affected generally fall into.

Finally, Dr. de Vries discusses the TANDem Project, an international collaboration of families affected by TSC, researchers and clinicians to provide scientific evidence for greater TAND intervention and treatment. The project is being headed by Drs. de Vries and Anna Jansen at UZ Brussels.

To learn more about TAND visit: www.tsalliance.org/tand

To download the TAND Checklist visit: https://bit.ly/2ObP3wn

To learn more about TAND clusters visit: https://www.ncbi.nlm.nih.gov/pubmed/29530301

Learn more about the TANDem project here: https://bit.ly/2MkQyqy