Materiały źródłowe

• #1 Medical Care for Tuberous Sclerosis Complex Symptoms

  https://www.massgeneral.org/neurology/tsc/patient-education/medical-care

  Because tuberous sclerosis complex (TSC) is a lifelong condition, it is important for all individuals with the disorder to be followed medically from infancy through old age. […] The level of medical care and oversight required by people with TSC, likewise, varies from person to person and may change for an individual over time. What is clear for all cases, however, is that early diagnosis, careful monitoring, and intervention can dramatically improve the long-term prognosis for people with TSC. […] Adequately caring for an individual with TSC typically requires a collaborative effort of a team of qualified physicians and other medical providers familiar with the disorder’s range of symptoms and their implications. […] Collaboration among specialists and the primary, or referring, physician is critical to effective diagnosis and treatment of a person with TSC.

• #2 Nursing implications for the lifelong management of tuberous sclerosis complex – PubMed

  https://pubmed.ncbi.nlm.nih.gov/23812052/

  Tuberous sclerosis complex (TSC) is a genetic disorder that can affect multiple organ systems, including the brain, heart, skin, kidney, and lung, by formation of benign hamartomas. […] The manifestations of TSC usually require management over the entire life of the patient. […] Increased understanding of the genetic cause of the disease and the underlying dysregulation of the mTOR pathway has led to clinical trials of mTOR inhibitors including sirolimus and everolimus. This article will review the various manifestations of TSC and describe treatment strategies, recommendations for surveillance, and use of mTOR inhibitors in their management.

• #3 Tuberous sclerosis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/tuberous-sclerosis/diagnosis-treatment/drc-20365971

  Depending on symptoms, you or your child may see several different specialists who are experts in tuberous sclerosis. […] The health care provider usually does a physical exam and talks with you about symptoms and family history. […] Genetic testing can confirm the diagnosis of tuberous sclerosis. […] Although there is no cure for tuberous sclerosis, treatment can help manage specific symptoms. […] Anti-seizure medicines may be prescribed to control seizures. […] If a growth affects the function of a specific organ such as the kidney, brain or heart the growth may be removed with surgery. […] Early intervention services, such as occupational, physical or speech therapy, may be helpful. […] Tuberous sclerosis is a lifelong condition that requires careful monitoring and follow-up because many symptoms may take years to develop.

• #4 Tuberous Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538492/

  Patients with tuberous sclerosis are best managed with an interprofessional team approach. Specialties include primary care providers, pediatrics, dermatology, nephrology, neurology, neurosurgery, cardiology, ophthalmology, radiology, surgery, and interventional radiology. […] Effective interprofessional communication is paramount, allowing seamless information exchange and collaborative decision-making among the team members.

• #4 Tuberous Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538492/

  Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the formation of benign tumors in various organs of the body, including the brain, skin, kidneys, heart, lungs, and eyes. […] Although there is currently no cure for TSC, treatment focuses on managing symptoms and complications to improve the quality of life for affected individuals. […] This activity highlights the evaluation and management of TSC, shedding light on the critical role played by different members of the interprofessional team. By working collaboratively, healthcare professionals offer comprehensive and well-coordinated care to both patients and their families, aiming to optimize outcomes in managing this complex condition. […] For children with tuberous sclerosis, an every 1- or 3-year lifetime surveillance, including imaging studies, has been suggested.

• #5 Tuberous sclerosis complex (TSC) care | University of Iowa Health Care Stead Family Children’s Hospital

  https://uihc.org/childrens/services/tuberous-sclerosis-complex-tsc-care

  A genetic counselor and a board-certified pediatric medical geneticist to assist with diagnosis and help families determine whether other family members might be at risk for TSC. […] Specialty care from experts in cardiology, dentistry, developmental and behavioral pediatrics, endocrinology, gastroenterology, gynecology, hematology-oncology, neuropsychology, neurosurgery, ophthalmology, orthopedics, psychology, pulmonology, radiology, urology, and more. […] The UI Stead Family Childrens Hospital TSC clinic is a research study site.

• #6 Tuberous Sclerosis Complex | Tuberous Sclerosis (TSC) | Duke Health

  https://www.dukehealth.org/treatments/pediatric-neurology/tuberous-sclerosis

  Duke specialists expertly diagnose and treat tuberous sclerosis complex (TSC) and related concerns in both children and adults. […] We create customized and comprehensive treatment plans to help improve symptoms and quality of life. […] Tuberous sclerosis complex requires coordinated care to treat the variety of issues it can cause, including developmental delays, behavior problems, autism, and epilepsy. […] A neurologist with specialized training and expertise in diagnosing and treating tuberous sclerosis complex serves as your primary point of care. […] Your care team will review your medical history and any previous test results, perform a comprehensive physical exam, and recommend additional tests as needed. […] The appropriate treatment for tuberous sclerosis depends on where tumors grow in the body, their size, whether they are benign, and how they might affect function, growth, and development.

• #7 How Is Care Changing for Kids With Tuberous Sclerosis Complex? | Children’s Hospital Los Angeles

  https://www.chla.org/blog/experts/care-innovation/how-care-changing-kids-tuberous-sclerosis-complex

  This spring, Childrens Hospital Los Angeles became one of just 15 pediatric hospitals in the country to be designated as a TSC Alliance Center of Excellence demonstrating the highest level of comprehensive services for diagnosing and managing tuberous sclerosis complex (TSC). […] TSC can affect many different organs, so we need multiple subspecialists to come together to treat the patient as a whole. Each child with TSC presents differently, so we work together to tailor our approach to each patient. […] With proper care, people with TSC can live long, full and independent lives.

• #8 Tuberous Sclerosis Complex | Tuberous Sclerosis (TSC) | Duke Health

  https://www.dukehealth.org/treatments/pediatric-neurology/tuberous-sclerosis

  Anti-epileptic medications may be prescribed to control seizures. […] Long-term monitoring and screening help identify new tumors at the earliest stages, before problems develop. […] Duke is one of only four North Carolina centers recognized as a Tuberous Sclerosis Clinic, and we are the only facility in the state to receive the Center of Excellence designation from the Tuberous Sclerosis Alliance. […] Our specialists stay up to date with ongoing research and the newest therapies for treating complications associated with tuberous sclerosis complex. […] Our experts help children make the transition to adult care when they turn 18. […] If you or your child has seizures, epilepsy specialists called epileptologists will be involved in your care.

• #9 Tuberous Sclerosis Complex | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/tuberous-sclerosis-complex/

  Why choose us for treatment of tuberous sclerosis complex? […] Because the disease affects so many parts of the body, children with TSC often need to see doctors from several different specialties to get the best treatment. Here at Childrens Colorado, we have a multidisciplinary TSC program, which brings together all the relevant medical teams into one clinic, so your child can see everyone they need to see in one visit. […] Our doctors are also very experienced in treating children with TSC, from moderate to the most severe cases. This is vital when dealing with a disease like TSC that results in such a variety of symptoms and complications. By collaborating with a team of experienced specialists, we can ensure that we address every complication associated with the disease. […] Additionally, our hospitals location on Anschutz Medical Campus enables us to provide comprehensive care with a focus on education and research for both children and adults. We collaborate with neurologists at the University of Colorado Hospital and School of Medicine to care for patients with TSC throughout childhood and into their adult life.

• #10 Tuberous Sclerosis Complex (TSC) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/tuberous-sclerosis-complex-tsc

  The Boston Childrens Hospital Multidisciplinary Tuberous Sclerosis Complex Program brings together pediatric specialists from epilepsy, neurosurgery, psychiatry, psychology, cardiology, nephrology, ophthalmology, dermatology, and genetics. Each member of our team has special expertise in treating children with TSC. […] Our team consists of experts in many of the specialized fields related to TSC who all have experience providing care to children with complex conditions and their family members. Together, with our knowledge and background, we believe we can provide the best possible care for your child. […] Unfortunately, there is no cure for tuberous sclerosis complex yet. But there are many effective treatment options for most symptoms. […] Many of the complications of TSC can be managed more effectively if they are treated early. Early diagnosis, behavioral therapy, and alternative educational approaches can be very helpful to children with developmental disorders. Therefore, it is important to monitor your child closely for any symptoms related to TSC.

• #11 Survey on tuberous sclerosis complex finds fragmented care, lack of information, scarcity of support

  https://medicalxpress.com/news/2024-08-survey-tuberous-sclerosis-complex-fragmented.html

  Researchers say this is not conducive with the International or UK TSC recommendations, where lifelong, personalized, multidisciplinary care, by a coordinated team of TSC experts is recommended. […] The establishment of a TSC center of excellence in the ROI, with the recruitment of a TSC coordinator. […] Coordinated care, ideally in a center of excellence, would facilitate health care professionals with TSC expertise to provide lifelong personalized care to TSC patients and support to their HCP colleagues. […] Researchers note that an advanced nurse practitioner passionate about TSC has already begun to coordinate TSC patient care of those who are attending St James Hospital in Dublin. The team report that this has been lifechanging for these patients and the service needs to expand.

• #12 Our Approach to Care – Tuberous Sclerosis Complex | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/neurology-and-neurosurgery/tuberous-sclerosis/our-approach-to-care

  Our multidisciplinary team of TSC experts is exceptionally skilled at identifying the signs and symptoms of TSC. […] For children with TSC, different types of specialists are required to provide the expert consultation and skillful care that each child will need. […] We assess the unique needs of each of our patients at each point in life to customize a plan of care. […] At the Children’s Hospital of New York, we help teens and young adults with TSC prepare to move from pediatric care to adult services.

• #13 TUBEROUS SCLEROSIS COMPLEX IHP – SCHOOL NURSING 101

  https://schoolnursing101.com/ihps/tuberous-sclerosis-complex/

  Nursing Diagnosis: Risk for Seizures Related to neurological manifestations of TSC, including cortical tubers, which increase the likelihood of seizures. Related to history of seizures, a common symptom of TSC. Interventions The school nurse will ensure an individualized seizure action plan is in place and shared with school staff. Make sure staff are trained in recognizing and responding to seizures. The school nurse will observe for any pre-seizure symptoms (e.g., staring, changes in behavior) and document any incidents. The school nurse will ensure the student takes prescribed anti-seizure medications as needed during school hours and monitor for side effects. The school nurse will equip the student with safety measures, such as padding around areas where seizures may occur (e.g., playground, classroom). Expected Outcomes The student will experience fewer or no seizure episodes while at school. School staff will respond appropriately to any seizure episodes, ensuring student safety. The student and caregivers will demonstrate adherence to prescribed seizure management plans.

• #14 TUBEROUS SCLEROSIS COMPLEX IHP – SCHOOL NURSING 101

  https://schoolnursing101.com/ihps/tuberous-sclerosis-complex/

  Nursing Diagnosis: Risk for Learning Difficulties Related to cognitive and developmental impairments associated with TSC, including intellectual disabilities. Related to learning difficulties related to the neurological impact of TSC. Interventions The school nurse will work with teachers and school counselors to develop an Individualized Education Plan (IEP) or a 504 plan to support the student’s learning needs. The school nurse will ensure that cognitive assessments are conducted regularly to identify areas where additional support or adaptations are needed. The school nurse will offer resources or suggestions to the students caregivers about how to support learning at home and encourage engagement in schoolwork. The school nurse and counselors will refer the student to behavioral therapy or cognitive therapy if indicated. Expected Outcomes The student will demonstrate progress in learning and academic achievements as per their IEP goals. Teachers and caregivers will provide the student with appropriate accommodations and educational strategies.

• #15 TUBEROUS SCLEROSIS COMPLEX IHP – SCHOOL NURSING 101

  https://schoolnursing101.com/ihps/tuberous-sclerosis-complex/

  Nursing Diagnosis: Risk for Impaired Social Interaction Related to physical manifestations of TSC (e.g., visible skin lesions, developmental delays) may lead to self-consciousness and potential social isolation. Related to behavioral symptoms, such as impulsivity or difficulty with communication, may also interfere with social interactions. Interventions The school nurse will encourage participation in inclusive school activities that are tailored to the student’s abilities, fostering peer engagement. The school nurse will educate classmates (with the family’s consent) about TSC to promote understanding and empathy. The school nurse will work with school counselors to provide social skills training and help the student navigate peer interactions. The school nurse will be vigilant for signs of bullying or exclusion and promptly address any concerns with staff and caregivers. Expected Outcomes The student will participate in social activities and engage with peers in a positive manner. The student will report feeling included and supported by classmates and staff. The school environment will foster understanding and acceptance of the students condition.

• #16 Signs, Symptoms and Treatments – Tuberous Sclerosis Australia

  https://tsa.org.au/understanding-tsc/signs-symptoms-and-treatments/

  Almost all people with TSC (Tuberous Sclerosis Complex) have some signs of TSC in their brain […] Many people with TSC (Tuberous Sclerosis Complex) will develop some signs of TSC in their kidneys […] Nearly all people with TSC (Tuberous Sclerosis Complex) will have signs of TSC on their skin […] If you have questions and/or need more information, you can speak with the TSA Nurse. This is a free, confidential information and support service which provides TSC information and links to practical support. […] The TSA nurse can help with: Emotional support if you or someone you care about has TSC, How to manage life with TSC, Questions you may have about TSC, including tests and medical procedures, Connecting you with a person with lived experience of TSC in your State or Territory, How to find specialists, other organisations and resources that can help you in your life with TSC.

• #17 Tuberous Sclerosis Diagnosis, Symptoms, and Treatment

  https://www.webmd.com/children/tuberous-sclerosis

  Having a disease like TSC can be tough, so find ways to reduce your stress and keep doing the things you love. If your child has TSC, remember they’re still a little one. Let them be a child. […] Pay close attention to changes in your body, and tell your doctor about them. Keep up with your treatment, and make regular visits to your doctor, letting them know about anything that concerns you. […] Talk with your family and friends about the condition. They’ll want to know how they can support you. Ask them for things you need, as they may not know what’s most helpful for you. […] Joining a support group can help you manage better. Hearing from other people and families who face similar challenges can help you understand what’s going on and make you feel connected. They can also offer tips for dealing with symptoms. […] If you feel overwhelmed or depressed, ask your doctor if they can recommend a therapist or counselor who can help you.

• #18 Medical Care for Tuberous Sclerosis Complex Symptoms

  https://www.massgeneral.org/neurology/tsc/patient-education/medical-care

  A collaborative approach to the medical care of someone with TSC is necessary given the many organ systems that may be affected. Regular monitoring is also essential to identify problems that may arise over time. […] For a coordinated treatment plan to work most effectively, it is important that everyone collaborating in the care of an individual with TSC have access to up-to-date information. […] Following diagnosis, a schedule for routine follow-up care should be established with the individual’s physician or team of physicians.

• #19 Tuberous sclerosis | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/tuberous-sclerosis

  Guidelines for TSC care include regular tests to look for early signs of TSC in different parts of the body. These include regular MRI scans, blood tests and other tests. […] Finding signs of TSC early offers the person with TSC options for early treatment. Appropriate treatment can protect the health of the person with TSC.

• #19 Tuberous sclerosis | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/tuberous-sclerosis

  Tuberous sclerosis is a genetic condition that can target different parts of the body to varying degrees. […] There is no cure for tuberous sclerosis, but with regular surveillance the impacts of tuberous sclerosis can be minimised. […] While there is no cure for TSC, there are new treatment options and lifelong, regular surveillance can help to protect the health of people with TSC. […] Treatment options may include: mTOR inhibitor medicines can be used to treat brain tumours, kidney tumours and epilepsy caused by TSC; anti-epileptic medicines to treat the associated seizures. Medication needs to be carefully monitored to make sure the child isn’t over-sedated; brain surgery if seizures cannot be controlled, it may be possible to remove lesions in the brain to reduce seizures; skin treatments dermatologists can provide advice on both surgical and medical treatment for the skin signs of TSC, including mTOR inhibitor creams; occupational therapy can help children acquire skills and strategies; speech therapy can assist communication skills.

• #20 Treatment and management – The Tuberous Sclerosis Association

  https://tuberous-sclerosis.org/information-and-support/treatment-and-management/

  Monitoring of people living with TSC may include the following scans and examinations, taking place at specific milestones (such as every six months or annually) as instructed by a clinician: MRI (Magnetic Resonance Imaging) scan of the brain, CT (Computed Tomography) scan of the lungs liver and kidneys, Ultrasound scan of the kidneys, Echocardiogram (ECG) ultrasound to examine the heart’s structure, Eye examination to look for abnormalities of the retina, Skin examination under ultraviolet light, Genetic testing to diagnose and/or confirm a diagnosis of TSC, Mental health services (such as Child and Adolescent Mental Health Services, CAMHS). […] The TSA hopes to continue working hard to ensure that support for people living with the condition is always available, whilst research into the causes and treatment of TSC continues to help us unlock the condition.

• #21

  https://www.nhs.uk/conditions/tuberous-sclerosis/treatment/

  Tuberous sclerosis is a lifelong condition that requires long-term care and support from a range of different healthcare professionals. […] If your child is affected, an individual care plan will be drawn up to address any needs or problems they have. […] Their care plan is likely to include details about any treatment or support they need, as well as the routine tests that will be necessary to monitor their condition. […] Regular testing is important for people with tuberous sclerosis. […] Tests and checks that may be recommended include: MRI scans to check for changes in tumours in the brain or kidneys, ultrasound scans to check for heart and kidney tumours, blood tests to check how well the kidneys are working and other things, such as vitamin D levels, electrocardiograms (ECGs) to detect abnormal electrical activity in the heart, CT scans to check the function of the lungs, such as measuring how much air a person can breathe out, skin and eye examinations to look for any changes, blood pressure measurements, questions about your child’s behaviour and development.

• #22 Tuberous Sclerosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538492/

  A comprehensive dermatologic evaluation may aid in the early recognition of angiofibromas that may eventually cause cosmetic disfigurations requiring laser therapy or surgical removal. […] Skin and dermatologic manifestations are also often responsive to mTOR inhibitors. […] Anticonvulsants are often required for TSC-associated epilepsy, especially vigabatrin for infantile spasms. […] The 2012 TSC consensus recommended that patients undergo lifetime surveillance to monitor for common manifestations. […] Surgical resection for symptomatic SEGA, however, is associated with a substantial increase in mortality and comorbidities, including hemiparesis, bleeding, infection, and cognitive decline. […] For renal angiomyolipomas larger than 3.5 cm, arterial embolization is recommended to avoid total nephrectomy and decrease the incidence of renal complications.

• #23 Surveillance & management – TSC Alliance

  https://www.tscalliance.org/navigating-tsc/surveillance-and-management/

  Managing tuberous sclerosis complex (TSC) across the lifespan requires attentive surveillance and effective strategies. […] It is crucial to have a local neurologist and pediatrician involved in your child’s healthcare team. […] During this age span, a pediatric neurologist who is familiar with TSC should be part of your child’s healthcare team. […] Surveillance with MRI of the abdomen is still recommended every 1 to 3 years during this timeframe. […] Ongoing screening and management are recommended throughout the lifespan. […] Because of these potential possibilities diagnostic testing such as echocardiogram (ECHO) and electrocardiogram (EKG/ECG) should be completed every 1 to 3 years for those who do have symptoms. […] First-line treatment recommendation focuses on mTOR inhibitor treatment.

• #24 Tuberous Sclerosis Complex (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/tuberous-sclerosis.html

  Tuberous sclerosis complex is a genetic condition that causes the growth of noncancerous (benign) tumors. This happens when cells grow out of control and divide more than they should. Rarely, these benign tumors can become cancerous. […] Tuberous sclerosis complex symptoms can range from mild to severe. The condition can affect: […] So far, there is no cure for TSC. But many of its symptoms get better with treatment. Tuberous sclerosis complex is a lifelong condition that can affect one or many parts of the body. So, kids who have it can need care from many specialists, such as: […] Ongoing, regular medical care for tuberous sclerosis complex is important. Doctors will watch for tumor growth and see how treatment is working. This includes doing MRI scans of the head, ultrasound or MRI scans of the belly, and echocardiograms every 13 years. […] Early diagnosis can help most kids with TSC get the care they need to lead active, independent lives.

• #25 Genetics of Tuberous Sclerosis Follow-up: Further Outpatient Care, Further Inpatient Care, Inpatient & Outpatient Medications

  https://emedicine.medscape.com/article/951002-followup

  Patients with tuberous sclerosis complex require regular follow-up care. Evaluation must include a detailed review of manifestations, including seizures, flank pain, hematuria, and school and behavioral issues, as well as blood pressure measurement and funduscopic examination. […] Patients with tuberous sclerosis complex require surveillance testing based on the schedule outlined in Workup. Testing includes MRI or CT scanning of the brain; electroencephalography; echocardiography; electrocardiography; renal ultrasonography, CT scanning, or MRI; pulmonary CT scanning; and pulmonary function testing (PFT). […] Routinely monitor patients on anticonvulsant medications for adequacy of seizure control. […] Patients with behavioral or psychiatric disorders require routine outpatient follow-up evaluation.

• #26 Treatment and management – The Tuberous Sclerosis Association

  https://tuberous-sclerosis.org/information-and-support/treatment-and-management/

  Tuberous Sclerosis Complex (TSC) is a lifelong condition that may require long-term care in different forms, depending on the severity and impact of the condition on an individual. […] There is currently no cure for TSC. However, Our understanding of TSC continues to develop and improve at an optimistic rate, with a broad range of treatments and therapies allowing many to mitigate or manage the affect that TSC has on them. […] The Tuberous Sclerosis Association (TSA) has always been committed to supporting individuals and families living with TSC whilst also researching causes, treatments and management of the condition. […] The first ever UK clinical guidelines for managing TSC in the NHS were recently published. […] Publication of the UK TSC clinical guidelines was a defining moment in the diagnosis, treatment and management of people living with TSC, with the guidelines helping to drive improvements in the consistency and quality of care that people with TSC receive from the NHS.

• #27 Tuberous Sclerosis Complex Treatment & Management: Approach Considerations, mTOR Kinase Inhibitors, Medical Care

  https://emedicine.medscape.com/article/1177711-treatment

  There is no cure for tuberous sclerosis complex (TSC). Treatment focuses on early identification and monitoring of potentially progressive lesions to prevent complications. Management strategies aim to minimize disease-associated issues and provide symptomatic relief. This includes regular screening and use of targeted therapies, such as mTOR inhibitors (eg, everolimus), to manage certain tumor growths and improve outcomes. Multidisciplinary care is often required to address manifestations across various organ systems, such as antiepileptic drugs (AEDs) for seizure control, behavioral interventions for cognitive or psychiatric symptoms, and surgical options for severe cases involving organ dysfunction or tumor removal. […] The main complication of tuberous sclerosis complex (TSC) requiring long-term medical therapy is epilepsy. Antiepileptic drugs (AEDs) are the mainstay of therapy for patients with TSC. Unfortunately, no one medical treatment gives satisfactory relief for all or even most patients. Patients with TSC may experience frequent exacerbations of their seizures that may require inpatient adjustment of AEDs. A combination of medical treatment modalities frequently is required.

• #28

  https://www.nhs.uk/conditions/tuberous-sclerosis/treatment/

  If your child is experiencing behavioural problems or has a learning disability, they may be referred to a psychologist for an assessment. […] A special educational needs plan may be drawn up to outline any extra educational support your child may require. […] Any brain tumours will be detected and monitored closely so treatment can be carried out if necessary. […] A brain tumour may need to be surgically removed if there’s a risk it could get too big and cause a build-up of fluid on the brain (hydrocephalus). […] Research has also found that a medication called everolimus shrinks most brain tumours, preventing them from causing hydrocephalus and potentially improving epilepsy as well. […] Everolimus is a type of mTOR inhibitor, which interrupts or blocks the chemical reactions needed for tumours to grow.

• #29

  https://www.nhs.uk/conditions/tuberous-sclerosis/treatment/

  These inhibitors are a useful treatment for some of the problems caused by tuberous sclerosis. […] Long-term studies carried out over several years have shown them to be very effective and longer-term studies are under way. […] Laser therapy can be used to improve the appearance of the skin if necessary. […] Research has shown the effectiveness of mTOR inhibitor cream in treating skin abnormalities caused by tuberous sclerosis. […] Treatment for kidney tumours and growths will depend on the problems they cause. […] Everolimus may be used to stop tumours becoming too large, as large tumours can cause dangerous bleeding. […] If a tumour bleeds, a procedure called embolisation may be recommended. […] In most cases, heart tumours will not need treatment. […] However, in some rare cases, surgery may be required to remove the tumours if they begin to seriously affect the functioning of the heart.

• #30 Tuberous Sclerosis Complex Treatment & Management: Approach Considerations, mTOR Kinase Inhibitors, Medical Care

  https://emedicine.medscape.com/article/1177711-treatment

  The choice of specific AED(s) for treating seizures in patients with TSC is based on the patient’s seizure type(s), epilepsy syndrome(s), other involved organ systems, age of the patient, and AED side effect profiles and formulations available. […] Surgical care for seizures in a patient with tuberous sclerosis complex (TSC) can involve focal cortical resection/thermal ablation, corpus callosotomy, or vagus nerve stimulation. […] Subependymal giant cell astrocytoma (SEGAs) require resection if they produce hydrocephalus or significant mass effect. If a gross total resection can be achieved, recurrence is unlikely. […] Epilepsy and other neurological problems are the most common causes of morbidity in tuberous sclerosis complex (TSC). Pediatric and/or adult neurologic consultation is recommended. Genetics evaluation is valuable to screen family members and provide genetic counseling.

• #31 Pediatric tuberous sclerosis complex (TSC) – Children’s Health Neurology

  https://www.childrens.com/specialties-services/conditions/tuberous-sclerosis

  Medicine can relieve various symptoms of tuberous sclerosis. Certain drugs can treat mood and behavior problems. Your childs medical team may also recommend medication to treat: Brain and kidney tumors – Drug treatment can shrink these tumors in people with TSC. […] Seizures – Antiseizure medication can control seizures. However, more than 50% of patients with TSC who have epilepsy do not respond to standard antiseizure medications. If this is the case for your child, our team of experts works together to find an effective treatment plan, including evaluating if neurosurgery may help curb seizures. […] If seizures happen so often that they affect your childs quality of life, surgery may be necessary. Surgeons may remove the section of the brain where seizures begin. […] At Childrens Health, we offer less-invasive brain surgery that doesnt require a large incision and helps children recover faster. If appropriate, we perform laser interstitial thermal therapy (LITT), which involves only a small opening in the skull and a laser probe to remove the tumor.

• #32 Tuberous Sclerosis (TSC): Symptoms, Causes & Treatment – UChicago Medicine

  https://www.uchicagomedicine.org/conditions-services/neurology-neurosurgery/tuberous-sclerosis

  Tuberous sclerosis can raise a persons risk of developing benign and malignant (cancerous) tumors, seizures and other serious problems. […] When you come to UChicago Medicine, you will be seen by an expert team of different specialists who will work together to help prevent these problems. […] The treatment plan will depend on factors such as age, medical history and the severity and projected course of the disease. […] Before recommending treatment, we will also spend time learning about your specific needs and goals. […] Some strategies that our physicians may suggest include: […] Educational and/or occupational therapy to maximize your (or your childs) ability to perform everyday tasks […] Medication to control seizures or manage related behavioral problems […] Targeted therapy, such as mammalian target of rapamycin (mTOR) inhibitors, to treat benign brain tumors called subependymal giant cell astrocytomas (SEGAs) that are common in people with tuberous sclerosis: These medicines can be used instead of surgery to treat these brain tumors.

• #33 Tuberous Sclerosis Complex Treatment & Management: Approach Considerations, mTOR Kinase Inhibitors, Medical Care

  https://emedicine.medscape.com/article/1177711-treatment

  The ketogenic diet is composed of a 2:1, 3:1, 4:1, or higher ratio of fats (ketogenic foods) to proteins and carbohydrates (antiketogenic foods). In general, the benefits of the diet for people with epilepsy include fewer seizures, less drowsiness, better behavior, and need for fewer concomitant antiepileptic drugs (AEDs).

• #34 Tuberous sclerosis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/tuberous-sclerosis/diagnosis-treatment/drc-20365971

  If your child is diagnosed with tuberous sclerosis, you and your family may face several challenges and uncertainties. […] Establish a screening schedule. […] Get help early for any problems with behavior. […] Your love and support are essential to helping your child reach full potential. […] You may want to ask a trusted family member or friend to join you for the appointment. […] Before your appointment, make a list of any symptoms your child is experiencing, and for how long. […] A health care provider who sees your child for possible tuberous sclerosis will ask you several questions.

• #35 Tuberous Sclerosis Complex (TSC) – Seattle Children’s

  https://www.seattlechildrens.org/conditions/tuberous-sclerosis-complex/

  Team members stay in close communication with you and with your childs other providers from diagnosis through treatment and follow-up. […] Our doctors, nurses, child life specialists and social workers help your child and your family through the challenges of their illness. We connect you to community resources and support groups.

• #36 Tuberous Sclerosis Complex (TSC) Center | UCSF Benioff Children’s Hospitals

  https://www.ucsfbenioffchildrens.org/clinics/tuberous-sclerosis-complex-tsc-center

  Social workers ease the effect of illness, injury and hospitalization on your family with counseling and assistance to help you navigate the challenges. […] Our schoolroom services and individual learning programs help children hospitalized at UCSF continue their education and get ready to return to school. […] We help kids return to school after hospitalization by educating staff and students about their needs and recommending needed accommodations. […] Patient relations reps and nursing supervisors are here to answer questions and address concerns.

• #37

  https://www.nhs.uk/conditions/tuberous-sclerosis/treatment/

  If your child is experiencing behavioural problems or has a learning disability, they may be referred to a psychologist for an assessment. […] A special educational needs plan may be drawn up to outline any extra educational support your child may require. […] Any brain tumours will be detected and monitored closely so treatment can be carried out if necessary. […] A brain tumour may need to be surgically removed if there’s a risk it could get too big and cause a build-up of fluid on the brain (hydrocephalus). […] Research has also found that a medication called everolimus shrinks most brain tumours, preventing them from causing hydrocephalus and potentially improving epilepsy as well. […] Everolimus is a type of mTOR inhibitor, which interrupts or blocks the chemical reactions needed for tumours to grow.

• #38 Surveillance & management – TSC Alliance

  https://www.tscalliance.org/navigating-tsc/surveillance-and-management/

  It is recommended to continue to have annual ophthalmic evaluations to assess for visual impairments. […] Transition planning is an intentional and coordinated process used to help students with disabilities transition from school to post-school life. […] The transition plan is a part of the IEP and is a collaboration between the parent or guardian, student (when appropriate), special education teacher, regular education teacher, administrative representative (in some cases a school transition coordinator), vocational rehabilitation, counselor and/or someone from adult day services who may be part of the transition team.

• #39 Partners in Care | UT Health Austin Pediatric Neurosciences at Dell…

  https://partnersincare.health/ut-health-austin-pediatric-neurosciences-at-dell-childrens/neurogenetics-center/tuberous-sclerosis-clinic

  Our tuberous sclerosis physicians routinely participate in research for improved diagnostics and therapies, allowing us to offer your child the latest care tailored to their needs. […] As your child transitions into adulthood, we will continue coordinating their care. […] By involving your family every step of the way, we’ll improve your child’s physical health, mental health, social health, and overall quality of life.

• #40 Treatment and management – The Tuberous Sclerosis Association

  https://tuberous-sclerosis.org/information-and-support/treatment-and-management/

  To encourage uptake of the recommendations enclosed within the UK TSC clinical guidelines, the TSA have developed a clinician summary of the key takeaways from the main guidelines. […] NHS TSC specialist doctors and nurses understand just how complicated TSC is and how the condition affects everyone differently. […] TSC affects everyone living with the condition very differently, from mildly to severe. Therefore, the treatments and therapies for TSC that someone living with the condition might receive will depend on how the condition is affecting them personally. […] All treatments and therapies will generally focus on helping to alleviate either the physical or mental affects that TSC might have on a person. […] It is important that people living with TSC are regularly monitored so that the location, spread and size of any TSC-related growths can be tracked.

• #41 Tuberous sclerosis complex (TSC) care | University of Iowa Health Care Stead Family Children’s Hospital

  https://uihc.org/childrens/services/tuberous-sclerosis-complex-tsc-care

  UI Stead Family Childrens Hospital provides expert care for TSC patients, no matter where in the body the symptoms occur and no matter how minor or serious those symptoms are. […] And because TSCs signs and symptoms can change as a patient ages, our treatment plans include a schedule of periodic follow-up visits to take care of any new problems as they arise. […] When TSC patients at UI Stead Family Childrens Hospital reach adulthood, we provide full support for their transition to the care theyll need from the UI Health Care specialists who treat adults with TSC. […] We provide coordinated, expert care so that people who have TSC can lead their healthiest life possible, with one place to go for all of their health and medical concerns. […] The UI Stead Family Childrens Hospital TSC clinic offers: Care from the only TSC clinic in the state of Iowa recognized by the TSC Alliance.

• #42 Tuberous sclerosis complex (TSC) care | University of Iowa Health Care Stead Family Children’s Hospital

  https://uihc.org/childrens/services/tuberous-sclerosis-complex-tsc-care

  A genetic counselor and a board-certified pediatric medical geneticist to assist with diagnosis and help families determine whether other family members might be at risk for TSC. […] Specialty care from experts in cardiology, dentistry, developmental and behavioral pediatrics, endocrinology, gastroenterology, gynecology, hematology-oncology, neuropsychology, neurosurgery, ophthalmology, orthopedics, psychology, pulmonology, radiology, urology, and more. […] The UI Stead Family Childrens Hospital TSC clinic is a research study site.

• #43 Tuberous Sclerosis Clinic | Atrium Health Wake Forest Baptist

  https://www.wakehealth.edu/locations/clinics/t/tuberous-sclerosis-clinic

  The Raab-Graham lab specializes in research to understand the neurological symptoms associated with tuberous sclerosis including epilepsy, autism spectrum disorder, intellectual disability and tuberous sclerosis-associated neuropsychiatric disorders. […] This lab focuses on understanding why seizures occur and how this may contribute to developmental delay, autism spectrum disorder and impaired cognitive function in tuberous sclerosis patients. […] Through funding from the National Institute of Neurological Disorders and Stroke, the Congressionally Directed Medical Research Program and others, the lab is providing insights that will help develop: […] New blood and urine markers that will help identify patients who can benefit from treatment the most. […] Ways to repurpose FDA-approved drugs to help patients with tuberous sclerosis.

• #44 Tuberous Sclerosis (TSC) | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/t/tuberous-sclerosis

  Tuberous sclerosis is often diagnosed within the first year of life but may take years if symptoms are mild. […] There is no cure for TSC. However, appropriate treatment allows many people with the condition to have very positive outcomes and lead full, productive lives. […] Screening for these lesions and checking kidney function over time are both part of routine TSC care. […] Children with TSC are often seen by a multi-disciplinary team of specialists who will suggest treatment based upon your child’s specific situation. […] Anti-seizure medicines or surgery may help alleviate seizure symptoms. […] Early detection of tuberous sclerosis is very important to slow or halt progression of the condition. Upon diagnosis, we recommend connecting with a TSC specialist as soon as possible for appropriate treatment recommendations and ongoing care to improve your child’s chances of leading a full and productive life.

• #45 Survey on tuberous sclerosis complex finds fragmented care, lack of information, scarcity of support

  https://medicalxpress.com/news/2024-08-survey-tuberous-sclerosis-complex-fragmented.html

  It is vital individuals receive an early diagnosis and ongoing appropriate surveillance and management by a coordinated team with TSC expertise- for life. We must provide coordinated integrated care for these patients. It is life-saving and life-changing. […] Raising awareness through research like this is essential in supporting those affected. The backbone of this research is the network of advanced nurse practitioners in epilepsy across Ireland, highlighting the impact of interdisciplinary, collaborative research.

• #46 Monitoring & managing patients with TSC:current perspectives | JMDH

  https://www.dovepress.com/monitoring-and-managing-patients-with-tuberous-sclerosis-complex-curre-peer-reviewed-fulltext-article-JMDH

  The heterogeneity of TSC manifestations represents a challenge to the implementation of appropriate treatment and follow-up protocols, which are frequently fragmented and suboptimal. TSC patients have a systemic and progressive disease, most of them developing significant morbidity and needing a holistic systematic monitoring by a multidisciplinary team. The introduction of mTOR inhibitors in therapeutic protocols emphasizes the need for this intimate collaboration between well-prepared health professionals.

• #47 Tuberous Sclerosis Treatment Program

  https://www.massgeneral.org/neurology/tsc/treatments-and-services

  Despite continuing advances in TSC research, there is not yet a cure for the disorder. […] For now, medical treatments can only address TSC’s symptoms, with the objective of identifying and managing potential problems. […] Care teams at the Herscot Center are available for video or phone visits even for initial appointments. […] Symptoms of TSC can vary widely from one individual to another. As a result, treatments must also vary and be specific to each individual’s set of symptoms. […] People who are mildly affected by TSC can lead healthy, productive lives with little or no treatment, aside from periodic examinations. […] Those who are much more severely affected, suffering from epileptic seizures, debilitating cognitive or behavioral problems, or advanced kidney or lung dysfunction, may require much more extensive and intensive medical treatment.

• #48 Tuberous Sclerosis | UVA Health

  https://uvahealth.com/services/neurocutaneous/tuberous-sclerosis

  Tuberous sclerosis, also called tuberous sclerosis complex (TSC), is a genetic, life-long condition that causes lesions and benign tumors in your organs (mainly the brain, eyes, heart, kidney, skin and lungs). […] Although the tumors aren’t cancer, they can still cause problems throughout your body. Tuberous sclerosis is sometimes also found along with other conditions, like epilepsy and autism, and it also may be a cause of those conditions. These conditions may require specialized care. […] The Tuberous Sclerosis Alliance has recognized our clinic for our multidisciplinary and collaborative approach. Our team includes experts in child and adult care, including: Neurologists, Pediatricians, Nephrologists, Dermatologists, Cardiologists, Radiologists, Pulmonologists. […] Although there is no cure, most people with TSC have normal lifespans. Tuberous sclerosis treatment focuses on managing the tumors and the symptoms they cause. The treatment plans for your TSC will change over time depending on where your tumors appear and how severe the symptoms are. Treatment may include: Periodic imaging to evaluate changes in tumor size, Medications, Surgery, Skin treatments such as laser surgery or topical medication, Speech, occupational or physical therapy for children with developmental delays. […] Early diagnosis and close partnership with your healthcare provider will help you to identify and effectively manage your tuberous sclerosis.

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