This content is intended for healthcare professionals in Europe only. Please confirm that you are a healthcare professional in Europe.

Decline

This activity has been sponsored by Jazz Pharmaceuticals. Jazz Pharmaceuticals provided financial support and has had input into the selection of the faculty and the detailed project scope. This activity is provided by Touch Medical Communications (TMC) for touchNEUROLOGY.

Leave Feedback
Epilepsy, Paediatric Neurology, Rare Diseases View Time: 52 mins

touchTEAMS The typical patient journey in tuberous sclerosis complex and unmet needs

This site is intended for healthcare professionals only.

Watch leading tuberous sclerosis complex (TSC) experts discuss the heterogenous presentation of the disease, typical referral and management pathways and unmet needs.

To view the full functionality of this touchTEAMS, please view on desktop or laptop device.

 Overview & Learning Objectives

Patient with tuberous sclerosis complex
Neurologist, Paediatric Neurologist, Paediatric Cardiologist, Nephrologist
Watch Video
The heterogenous presentation of TSC Dr Sam Amin, Dr Milka Pringsheim, Dr Nicholas Annear, Dr Aglaia Vignoli

A neurologist, paediatric neurologist, paediatric cardiologist and nephrologist outline the heterogenous presentation of TSC across a patient's life.

Watch Video
Paediatric Neurologist and Paediatric Cardiologist
Watch Video
The heterogenous referral pathways for patients with TSC Dr Milka Pringsheim, Dr Sam Amin

A paediatric neurologist and paediatric cardiologist discuss the typical referral pathways for patients with TSC including the role of genetics in diagnosis.

Watch Video
Neurologist, Paediatric Neurologist and Nephrologist
Watch Video
The heterogenous management pathways for patients with TSC Dr Nicholas Annear, Dr Sam Amin, Dr Aglaia Vignoli

A neurologist, paediatric neurologist and nephrologist outline the typical management pathways for patients with TSC and the role of HCPs.

Watch Video
Neurologist, Paediatric Neurologist, Paediatric Cardiologist and Nephrologist
Watch Video
Improvements in referral and management pathways and communication Dr Sam Amin , Dr Milka Pringsheim, Dr Nicholas Annear, Dr Aglaia Vignoli

A neurologist, paediatric neurologist, paediatric cardiologist and nephrologist share their views on how improve TSC referral and management.

Watch Video
Neurologist, Paediatric Neurologist, Paediatric Cardiologist, Nephrologist

A neurologist, paediatric neurologist, paediatric cardiologist and nephrologist outline the heterogenous presentation of TSC across a patient's life.
Expert Spotlight
Dr Sam Amin
University Hospitals Bristol NHS Foundation Trust, Bristol, UK
Dr Milka Pringsheim
Epilepsy Center for Children and Adolescents, Schön Clinic Vogtareuth, Voiturette, Germany
Dr Nicholas Annear
St George's University Hospitals NHS Foundation Trust, London, UK
Dr Aglaia Vignoli
University of Milan, Milan, Italy

Drs Amin, Pringsheim, Annear and Vignoli discuss the heterogenous presentation of TSC at different ages including seizure types.

 Learn More Back to Teams Hub Time: 17:31
 
Paediatric Neurologist and Paediatric Cardiologist

A paediatric neurologist and paediatric cardiologist discuss the typical referral pathways for patients with TSC including the role of genetics in diagnosis.
Expert Spotlight
Dr Milka Pringsheim
Epilepsy Center for Children and Adolescents, Schön Clinic Vogtareuth, Voiturette, Germany
Dr Sam Amin
University Hospitals Bristol NHS Foundation Trust, Bristol, UK

Drs Pringsheim and Amin discuss the typical referral pathways for patients with TSC, the role of HCPs in referral and communication gaps between the MDT, and patients and caregivers.

 Learn More Back to Teams Hub Time: 10:59
 
Neurologist, Paediatric Neurologist and Nephrologist

A neurologist, paediatric neurologist and nephrologist outline the typical management pathways for patients with TSC and the role of HCPs.
Expert Spotlight
Dr Nicholas Annear
St George's University Hospitals NHS Foundation Trust, London, UK
Dr Sam Amin
University Hospitals Bristol NHS Foundation Trust, Bristol, UK
Dr Aglaia Vignoli
University of Milan, Milan, Italy

Drs Annear, Amin and Vignoli discuss the typical management pathways for patients with TSC, the role of HCPs in management and communication gaps between the MDT, and patients and caregivers.

 Learn More Back to Teams Hub Time: 11:39
 
Neurologist, Paediatric Neurologist, Paediatric Cardiologist and Nephrologist

A neurologist, paediatric neurologist, paediatric cardiologist and nephrologist share their views on how improve TSC referral and management.
Expert Spotlight
Dr Sam Amin
University Hospitals Bristol NHS Foundation Trust, Bristol, UK
Dr Milka Pringsheim
Epilepsy Center for Children and Adolescents, Schön Clinic Vogtareuth, Voiturette, Germany
Dr Nicholas Annear
St George's University Hospitals NHS Foundation Trust, London, UK
Dr Aglaia Vignoli
University of Milan, Milan, Italy

Drs Amin, Pringsheim, Annear and Vignoli discuss potential improvements in referral and management pathways including MDT communication, and patient and caregiver involvement.

 Learn More Back to Teams Hub Time: 11:30
 
Back To Top
Overview & Learning Objectives
Overview

Tuberous sclerosis complex (TSC) has a diverse age-dependent presentation of clinical manifestations, which can affect the brain, heart, skin, eyes, kidneys and lungs.1–3 Consequently, referral pathways may differ and disease management requires a tailored approach using multi-disciplinary team of healthcare practitioners.4–6 However, the rarity and complexity of the disease may provide challenges to best practice care, resulting in unmet needs.4

In this TouchTEAMS, leading experts provide an overview of TSC presentation at different ages, typical referral and management pathways and potential improvements to these pathways.

Learning Objectives

After watching this activity, participants should be better able to:

  • Describe the heterogenous presentation of TSC at different ages including seizure types.
  • Outline the heterogeneous referral and management pathways for patients with TSC over their lifetime, including the roles of different HCPs and any communication gaps.
  • Identify potential improvements in referral and management pathways, and multidisciplinary team communication including HCP roles, and patient and caregiver involvement.
Faculty & Disclosures
Dr Sam Amin

University Hospitals Bristol NHS Foundation Trust, Bristol, UK

Dr Sam Amin is a consultant paediatric neurologist and head of department at University Hospitals Bristol and Weston NHS Foundation Trust. He is chair of the South and Wales TSC network and has led several national and international working groups for guidelines in TSC. He runs an active research group in paediatric neurology and is chief investigator on nine current studies.

Dr Amin has received funding from GW Pharmaceuticals/Jazz Pharmaceuticals, Norvartis, PTC Therapeutics, Boston Scientific, Nutricia, UCB, BioMarin, LivaNova, Medtronic, Desitin, Ipsen, Orion, CDKL5 UK, TSA and the National Institute for Health Research.
Dr Milka Pringsheim

Epilepsy Center for Children and Adolescents, Schön Clinic Vogtareuth, Voiturette, Germany

Dr Milka Pringsheim has specialised in paediatric cardiology and neuropaediatrics. She has worked in the German Heart Centre Munich (Germany), as a paediatric cardiologist for 15 years, seeing outpatients with congenital heart disease and neurologic complications. She has also worked in the Schön Klinik Vogtareuth as a neuropaediatrician for 10 years, leading the ward for ICU there (intermediate care) and taking care of neuropaediatric patients with severe encephalopathy, who sometimes are also dependent on ventilation. In the neuropaediatric epilepsy centre, she is responsible for the cardiac investigations of the TSC patients. Her research focuses on genetic epilepsy syndromes.

Dr Pringsheim has previously received honoraria for speaking from Zogenix. She is part of the advisory board for Jazz Pharmaceuticals, Takeda and Zogenix.
Dr Nicholas Annear

St George's University Hospitals NHS Foundation Trust, London, UK

Dr Nicholas Annear is a Consultant in Acute Medicine and Nephrology St George’s University Hospitals. He undertakes specialist clinics in Acute Kidney Injury and Renal Transplantation, and established a new clinic for patients with TSC. He is also an Honorary Senior Lecturer in the Institute for Medical and Biomedical Teaching at St George’s University of London.

Dr Annear has been awarded research grants with the National Institute for Health Research (NIHR), the Wellcome Trust, the Imperial College Biomedical Research Centre, King’s College London Biomedical Research Centre and the Kathleen Valley Charitable Trust (KVCT). He is a co-signatory to a joint working project with Novartis to develop the TSC service at St George’s University Hospitals NHS Foundation Trust. He has previously received honoraria and educational grants for speaking, attending conferences and participating in research from Novartis and Vifor Pharma. He currently holds consulting agreements with Aeovian Pharmaceuticals and GW Pharmaceuticals/Jazz Pharmaceuticals.
Dr Aglaia Vignoli

University of Milan, Milan, Italy

Dr Aglaia Vignoli is Director of the Child Neurology and Psychiatry in Milan and assistant professor at the University of Milan. She has expertise in rare disorders and epilepsy and has led several research projects on rare disorders with neurologic impairment.

Dr Vignoli has received fees from Jazz Pharmaceuticals.
References
  1. Samueli S, Abraham K, Dressler A, Groeppel G, Jonak C, Muehlebner A, et al. Tuberous Sclerosis Complex: new criteria for diagnostic work-up and management. Wiener klinische Wochenschrift. 2015;127(15-16):619-30.
  2. Jeong A, Wong M. Systemic disease manifestations associated with epilepsy in tuberous sclerosis complex. Epilepsia. 2016;57(9):1443-9.
  3. Overwater IE, Verhaar BJ, Lingsma HF, Bindels-de Heus GC, van den Ouweland AM, Nellist M, et al. Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex. Journal of neurology. 2017;264(1):161-7.
  4. Annear NMP, Appleton RE, Bassi Z, Bhatt R, Bolton PF, Crawford P, et al. Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care. Frontiers in neurology. 2019;10:1116.
  5. Auvin S, Bissler JJ, Cottin V, Fujimoto A, Hofbauer GFL, Jansen AC, et al. A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report. Orphanet journal of rare diseases. 2019;14(1):91.
  6. Frost M, Hulbert J. Clinical management of tuberous sclerosis complex over the lifetime of a patient. Pediatric health, medicine and therapeutics. 2015;6:139-46.
This activity is sponsored by:

This activity has been sponsored by Jazz Pharmaceuticals. Jazz Pharmaceuticals provided financial support and has had input into the selection of the faculty and the detailed project scope. This activity is provided by Touch Medical Communications (TMC) for touchNEUROLOGY.

TMC activities are developed in conjunction with expert faculty.

Unapproved products or unapproved uses of approved products may be discussed by the faculty; these situations may reflect the approval status in one or more jurisdictions. The presenting faculty have been advised by TMC to ensure that they disclose any such references made to unlabelled or unapproved use. No endorsement by TMC of any unapproved products or unapproved uses is either made or implied by mention of these products or uses in TMC activities. TMC accepts no responsibility for errors or omissions.

The views and opinions expressed are those of the faculty and do not necessarily reflect those of any sponsor.

INT-NEU-2300041

Date of preparation: November 2023

 

Feedback Close
Feedback

Please provide feedback for this touchTEAMS on the following
(scale of 1-5 where 1=strongly disagree and 5=strongly agree):

* = Mandatory Field

Feedback Close
Feedback

Thank you for your feedback.

Back to Activity
Copied to clipboard!
accredited arrow-down-editablearrow-downarrow_leftarrow-right-bluearrow-right-dark-bluearrow-right-greenarrow-right-greyarrow-right-orangearrow-right-whitearrow-right-bluearrow-up-orangeavatarcalendarchevron-down consultant-pathologist-nurseconsultant-pathologistcrosscrossdownloademailexclaimationfeedbackfiltergraph-arrowinterviewslinkmdt_iconmenumore_dots nurse-consultantpadlock patient-advocate-pathologistpatient-consultantpatientperson pharmacist-nurseplay_buttonplay-colour-tmcplay-colourAsset 1podcastprinter scenerysearch share single-doctor social_facebooksocial_googleplussocial_instagramsocial_linkedin_altsocial_linkedin_altsocial_pinterestlogo-twitter-glyph-32social_youtubeshape-star (1)tick-bluetick-orangetick-red tick-whiteticktimetranscriptup-arrowwebinar Sponsored Department Location NEW TMM Corporate Services Icons-07NEW TMM Corporate Services Icons-08NEW TMM Corporate Services Icons-09NEW TMM Corporate Services Icons-10NEW TMM Corporate Services Icons-11NEW TMM Corporate Services Icons-12Salary £ TMM-Corp-Site-Icons-01TMM-Corp-Site-Icons-02TMM-Corp-Site-Icons-03TMM-Corp-Site-Icons-04TMM-Corp-Site-Icons-05TMM-Corp-Site-Icons-06TMM-Corp-Site-Icons-07TMM-Corp-Site-Icons-08TMM-Corp-Site-Icons-09TMM-Corp-Site-Icons-10TMM-Corp-Site-Icons-11TMM-Corp-Site-Icons-12TMM-Corp-Site-Icons-13TMM-Corp-Site-Icons-14TMM-Corp-Site-Icons-15TMM-Corp-Site-Icons-16TMM-Corp-Site-Icons-17TMM-Corp-Site-Icons-18TMM-Corp-Site-Icons-19TMM-Corp-Site-Icons-20TMM-Corp-Site-Icons-21TMM-Corp-Site-Icons-22TMM-Corp-Site-Icons-23TMM-Corp-Site-Icons-24TMM-Corp-Site-Icons-25TMM-Corp-Site-Icons-26TMM-Corp-Site-Icons-27TMM-Corp-Site-Icons-28TMM-Corp-Site-Icons-29TMM-Corp-Site-Icons-30TMM-Corp-Site-Icons-31TMM-Corp-Site-Icons-32TMM-Corp-Site-Icons-33TMM-Corp-Site-Icons-34TMM-Corp-Site-Icons-35TMM-Corp-Site-Icons-36TMM-Corp-Site-Icons-37TMM-Corp-Site-Icons-38TMM-Corp-Site-Icons-39TMM-Corp-Site-Icons-40TMM-Corp-Site-Icons-41TMM-Corp-Site-Icons-42TMM-Corp-Site-Icons-43TMM-Corp-Site-Icons-44TMM-Corp-Site-Icons-45TMM-Corp-Site-Icons-46TMM-Corp-Site-Icons-47TMM-Corp-Site-Icons-48TMM-Corp-Site-Icons-49TMM-Corp-Site-Icons-50TMM-Corp-Site-Icons-51TMM-Corp-Site-Icons-52TMM-Corp-Site-Icons-53TMM-Corp-Site-Icons-54TMM-Corp-Site-Icons-55TMM-Corp-Site-Icons-56TMM-Corp-Site-Icons-57TMM-Corp-Site-Icons-58TMM-Corp-Site-Icons-59TMM-Corp-Site-Icons-60TMM-Corp-Site-Icons-61TMM-Corp-Site-Icons-62TMM-Corp-Site-Icons-63TMM-Corp-Site-Icons-64TMM-Corp-Site-Icons-65TMM-Corp-Site-Icons-66TMM-Corp-Site-Icons-67TMM-Corp-Site-Icons-68TMM-Corp-Site-Icons-69TMM-Corp-Site-Icons-70TMM-Corp-Site-Icons-71TMM-Corp-Site-Icons-72