Reach Out April 2018

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Research Research News Many recent journal publications have shared new understanding of how tuberous sclerosis complex (TSC) works and how best to use available treatment options. We’ve chosen just a few to summarise here. How to make the diagnosis of TSC before seizures start Slowinska, Jozwiak et al published a study that identified the most useful approach in making the diagnosis of TSC before seizure onset (Note: seizure onset is usually after four months of age). This is becoming more important in TSC because of increasing evidence that early monitoring with EEG can detect seizure onset and provide an opportunity for early treatment. The team examined 100 children with TSC from Poland and Italy who had suspected TSC because heart tumours (cardiac rhabdomyomas) had been found on prenatal ultrasound. Eightytwo of these children were diagnosed before four months of age. The most common clinical signs of TSC that were used to confirm their TSC were brain lesions (subependymal nodules, also known as SENs, and cortical dysplasias, also known as cortical tubers) and hypomelanotic macules (also known as white patches). Genetic testing was done for many babies with suspected TSC but, for most, results were not returned early enough to confirm a diagnosis of TSC before four months of age. Through their research, the team has proposed a diagnostic algorithm that specifies referrals and tests for a child with suspected TSC. This algorithm includes prenatal MRI, brain and abdominal MRI and skin exams. The researchers also recommend referral to TSC centres or specialists whenever these are available. This study is important as it offers a process for maternal and foetal medicine teams to follow that is informed by evidence. It confirms that clinical tests (such as MRIs and skin exams) are still the most useful for diagnosing TSC and are not able to be replaced by genetic testing. Słowiska, M., et al., Early diagnosis of tuberous sclerosis complex: A race against time. How to make the diagnosis before seizures? Orphanet Journal of Rare Diseases, 2018. 13(1): p. 25. Everolimus for younger children with TSC Kuki et al reported results from using the mTOR inhibitor Everolimus to treat SEGA brain tumours in five children under 12 months of age in Japan. They found that all children had at least a 50% reduction in the size of their SEGA. The majority did experience adverse events from using Everolimus including mouth ulcers and infections. The researchers conclude that mTOR inhibitors can be effective for younger children but adverse events should be closely monitored. Kuki, I., et al., Efficacy and safety of Everolimus in patients younger than 12 months with congenital subependymal giant cell astrocytoma. Brain Dev, 2018. Knowledge of kidney issues in TSC Cockerell et al studied how much people with TSC and their parents know about the effects of TSC on the kidneys. The questionnaire study included 357 families across France and Norway. They found that the most common ways people learnt about TSC were in medical consultations and through their local TSC organisations. They found that people who knew more about kidney signs and symptoms were more likely to have the recommended regular imaging of their kidneys. The researchers were surprised that over 40% of people were not aware that kidney angiomyolipomas (AMLs) were at risk of bleeding. The researchers recommend that people with TSC who are over 15 years of age, are told about the risk of kidney AMLs bleeding. They also recommend people with TSC are provided with information about their own risk. For example, for a younger person, their risk may be low because their AMLs are small. Thirty percent of people in the study had not had the recommended imaging of their kidneys every three years. A smaller number had never had any imaging of their kidneys. Ultrasound was the most common type of imaging. The researchers recommend that more is done to increase the knowledge that people with TSC have of AMLs and bleeding risk. They also recommend more is done to ensure regular monitoring of AML growth particularly through adolescence and early adulthood. Cockerell, I., et al., Renal manifestations of tuberous sclerosis complex: Patients’ and parents’ knowledge and routines for renal follow-up - a questionnaire study. BMC Nephrol, 2018. 19(1): p. 39. 20 Reach APRIL 2018 ISSUE 107 Out
Research TAND study suggests natural clusters of neuropsychiatric disorders Leclezio et al have published their pilot study in the journal Pediatric Neurology and presented further findings at the 2017 International Research Conference on TSC and LAM. The aim of this research was to find out if there were natural clusters, or subgroups, of how TSC associated neuropsychiatric disorders (TAND) affect people with TSC. TAND includes a wide range of neuropdevelopmental, psychiatric, learning and behavioural difficulties. People with TSC and their carers consistently report TAND as being one of the ways that TSC most severely impacts their lives. However the complexity and uniqueness of each individual’s TAND profile is one of the barriers to appropriate screening, diagnosis and treatment. Using data from over 450 TAND checklists, the team were able to define seven natural clusters of TAND: scholastic; neuropsychological; mood/anxiety; autism spectrum disorderlike; behaviours that challenge; hyperactive/impulsive; and eating/sleeping. The work suggests that each person with TSC may belong to one of these clusters. These clusters may provide a new way to understand how and why TAND effects each person with TSC differently. It would also provide a foundation for a broader understanding of the variability of other signs and symptoms of TSC. Future work may enable us to find new ways to look for TAND throughout the lifetime of a person with TSC and to identify treatments that are tailored to a specific TAND cluster. The pilot study included data collected in Australia. Thank you to the Australians with TSC who participated in the study. Leclezio, L., S. Gardner-Lubbe, and P.J. de Vries, Is It Feasible to Identify Natural Clusters of TSC-Associated Neuropsychiatric Disorders (TAND)? Pediatr Neurol, 2018. Want to learn more? Come to our Understanding TAND education events in Adelaide, Brisbane and Sydney this year with our guest speaker, Professor Petrus de Vries. Visit www.tsa.org.au/TAND-2018 Remembering Loren and Tonya Clare Stuart, TSA General Manager Two health professionals who made their mark on the global tuberous sclerosis complex (TSC) community died recently. We offer our condolences to their family and friends and our heartfelt appreciation for their contribution to improving the lives of those affected by TSC. Loren Leclezio worked alongside Petrus de Vries at the University of Cape Town, South Africa. Loren has been instrumental in improving our understanding of TSC associated neuropsychiatric disorders (TAND) and developing the TAND checklist. Her work on identifying TAND clusters, which is still in progress, will take us even closer to a future where these aspects of TSC are well understood and their impacts are lessened. Loren also worked tirelessly to improve the health care available for people with TSC in South Africa and contributed to TSC International’s work in this area. We will remember her warmth and energy as well as her compassion. Tonya Kara was a nephrologist at Starship Children’s Hospital in Auckland and was much loved by her patients and their families. Tonya was part of the team who helped us to establish Tuberous Sclerosis Complex New Zealand (TSCNZ) and worked with TSCNZ to raise awareness of TSC and particularly the importance of lifelong surveillance. Helen Willacy, President of TSCNZ, reflects on Tonya’s contribution to the TSC community: “Tonya was one of our TSC champions. She was passionate about supporting her colleagues in nephrology and paediatrics, to provide the very best of care for their patients with TSC. No words can ever fully describe what she has done for the TSC community. She will be greatly missed and our hearts go out to her family and friends.” 21
Page 1 and 2: Reach Out Remembering Loren & Tonya
Page 3 and 4: TSA News Editorial Teresa Llewellyn
Page 5 and 6: TSA News Proposed Constitutional Ch
Page 7 and 8: #Tatts4TSC Do something fun and get
Page 9 and 10: Personal Stories “This is a photo
Page 11 and 12: Personal Stories Cooper’s story a
Page 13 and 14: Personal Stories Georgina’s story
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Page 17 and 18: Personal Information Stories What c
Page 19: Information A new resource to expla
Page 23 and 24: Fundraising We now have a TSC Hero

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