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Tuberous Sclerosis (TSC)

  • Boston Children’s Sahin and Cincinnati Children’s Krueger receive grant for tuberous sclerosis complex study

    We’re pleased to announce that Boston Children’s Hospital neurologist Mustafa Sahin, MD, PhD, and Darcy Krueger, MD, PhD, of Cincinnati Children’s Hospital Medical Center, have received part of a $100 million grant from the National Institutes of Health as part of the Autism Centers of Excellence. The grant supports their research on tuberous sclerosis complex (TSC). This rare genetic disease causes children to develop benign tumors in their brain and other vital organs and increases their risk of developing autism. Currently, there is no cure for TSC, although there is treatment for the symptoms. Through this project, a consortium of TSC clinics at five pediatric hospitals will recruit infants diagnosed with TSC to track brain development and gain insights into how autism develops.

    Overview

    Our bodies are stocked with sophisticated controls that keep our cells working in harmony with one other, so that no cells grow to overstep their bounds. When one of these central systems isn’t working as it usually does, problems can occur in many different parts of the body.

    That’s what happens in tuberous sclerosis complex (TSC; also called tuberous sclerosis or TS): A single change in your child’s DNA can allow cells to grow in an abnormal way, which can produce a variety of symptoms. These may include:

    • benign tumors and other abnormal tissue in organs including the brain, skin, heart, eyes, kidneys and lungs
    • epilepsy
    • intellectual disabilities and behavioral disorders, including autism spectrum disorders

    Some children with TSC face serious problems, while for others, the disease is very mild. It’s important to know that even though the list of possible complications is long, every child with TSC doesn’t experience all of them.

    Here’s some basic information about tuberous sclerosis complex:

    • TSC can be caused by a DNA change (mutation) in either of two genes. In about 80 percent of children who have TSC, genetic testing can detect a TSC - causing mutation.
    • Most children with TSC are the first people in their families to have TSC, because their disease is caused by a new mutation.
    • About one in 6,000 children are born with TSC. Symptoms usually appear before a baby is 6 months old.
    • TSC affects all ethnic groups, and girls and boys have an equal chance of having the disease.
    • There’s not a cure for TSC, but complications often can be managed well if they’re caught and treated early.
    • Most children under an experienced physician’s care can expect to grow up to live active and productive lives with a normal life expectancy.

    In the last several years, researchers have made major discoveries about the causes of TSC, and these scientific findings are leading to promising new treatments.

    How Children’s Hospital Boston approaches tuberous sclerosis complex

    At Children’s, we formed the Multi-Disciplinary Tuberous Sclerosis Program with the belief that children with TSC benefit from care that is coordinated and specially tailored to their needs.

    • Our team 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 tuberous sclerosis.
    • Your child can see all of his specialists at the same location, and we work closely with one another to stay on the lookout for any complications he may have and to manage them effectively.
    • A nurse coordinator, licensed genetic counselor and educational consultant compassionately support our patients and their families.

    In addition to providing expert care today, we’re searching for ways to improve the lives of children with TSC tomorrow by conducting research to better understand the disease and find new treatments. We’re conducting clinical trials of new drugs, studying the complications that children with TSC can experience and looking for DNA abnormalities that may contribute to the disease.

    Tuberous sclerosis complex: Reviewed by Mustafa Sahin, MD, PhD

    © Children’s Hospital Boston, 2011

     

    Top-ranked care for children
    Boston Children’s received top marks in many different specialties from U.S. News & World Report in their 2014-15 rankings of pediatric hospitals. Get all the details on the U.S. News website.

     

    Targeting developmental delays
    Our team in the Multi-Disciplinary Tuberous Sclerosis Program is conducting groundbreaking clinical trials of a medication for TSC. Read more in Can drugs improve cognitive deficits in developmental disorders?.
  • In-Depth

    If your child has just been diagnosed with tuberous sclerosis, or if his doctor is recommending that he be evaluated, it’s natural for you to want to learn as much as possible about the condition. We hope the information in these pages is helpful to you, and when you meet with our experts, we can explain your child’s condition and the treatment plan fully.

    Tuberous sclerosis complex (also called tuberous sclerosis, TS or TSC) is a genetic condition that affects multiple systems in the body. The symptoms usually appear before a child is 6 months old. Each person who has TSC is affected in a different way: In some children, the disease is very mild, whereas for others, it can involve life-threatening complications.

    It’s estimate that TSC affects about 50,000 people in the United States and one million worldwide; one in 6,000 children are born with the disease. It affects all ethnic groups, and girls and boys have an equal chance of having the disease.

    The hallmark of TSC is a variety of benign (non-cancerous) tumors in the brain. The name “tuberous sclerosis” comes from one of these types of abnormal cell structures, called cortical tubers. Other common complications of TSC are:

    • Tumors and other abnormal tissue can grow in many places, including the brain, skin, heart, eyes, kidneys and lungs. Almost all of these lesions are benign (not cancerous), but they can cause a variety of different problems.
    • Many children who have tuberous sclerosis develop epilepsy. Babies may have infantile spasms, and older children can have other types of seizures.
    • Children with TSC often have some type of intellectual disability or developmental or behavioral disorder, including autism spectrum disorders.

    Learn more about the complications of TSC under Symptoms

    TSC is one of several conditions that are called neurocutaneous syndromes. All of these disorders are genetic conditions that cause tumors and other types of abnormal tissue to grow in the brain, skin and other organs. The other neurocutaneous syndromes are:

    TSC is a genetic condition, but it’s often not inherited

    TSC is a genetic condition, meaning it’s caused by a DNA change (mutation). A change in either of two genes—called TSC1 and TSC2—can cause tuberous sclerosis. In about 80 percent of people who have TSC, genetic testing can detect a mutation in one of these genes.

    Currently, there’s no clear connection between which TSC -causing mutation a person has and his particular kind of symptoms. So even if two people in the same family have the same mutation, their TSC symptoms may be very different.

    Since 20 percent of people with TSC don’t have an identifiable mutation, researchers are looking for additional DNA changes that may cause the disease. Read more about the search for new DNA changes that can cause TSC under Research & Innovation

    TSC is an autosomal dominant genetic condition. This means that:

    • Girls and boys have an equal risk of having the condition.
    • A mutation in only one copy of a gene causes TSC. A child can inherit the condition if either parent has it.
    • A person who has TSC has a 50 percent chance of passing the condition on to each child.

    About a third of children with TSC inherited the genetic condition from a parent. However, for two-thirds of children with TSC, the condition is “spontaneous,” meaning that a child’s DNA change is the first instance of that change in his family—he didn’t inherit it.

    Sometimes, a child with TSC does have a parent who also has TSC but the parent doesn’t know it because her symptoms have been very mild. So if your child is diagnosed with TSC, you may need to be examined and have genetic testing done, as well.

    If you have a child with TSC, there is also an increased likelihood that your other children will have the condition. In some cases, if the family of a child with TSC has another pregnancy, we may refer them to the Advanced Fetal Care Center for advanced ultrasound screening.

    We know that going through genetic testing and the diagnostic process can be difficult for families, and we’ll be here for you every step of the way. Our Multi-Disciplinary Tuberous Sclerosis Program is managed by a genetic counselor who is experienced in working with families like yours and is available to talk with you and answer any questions you have.

    TSC affects each child differently

    The symptoms of TSC vary greatly from child to child. In some children, the disease involves severe complications in multiple organ systems, whereas in others, it may be so mild that they don’t even know they have the disease.

    Each child’s health is affected to various degrees depending on his particular complications. It’s important for your child to be monitored closely so that if complications do come up, they can be treated early on. The good news is that most children with TSC who are under an experienced physician’s care can expect to live active and productive lives with normal life expectancies.

    Symptoms

    Some of the symptoms of TSC, such as white skin patches, are present at birth. So in many cases, children are diagnosed with TSC as infants. Sometimes, the benign heart tumors characteristic of TSC are detected even before birth, in a prenatal ultrasound. On the other hand, some people have such mild symptoms that they aren’t diagnosed until adulthood.

    The most common features of tuberous sclerosis complex (TSC) are:

    • benign tumors and other abnormal tissue (collectively referred to as “lesions”) in many organ systems, including the brain, skin, heart, eyes, kidneys and lungs
    • seizures
    • learning disabilities and developmental and behavioral disorders, including autism spectrum disorders

    Every person with TSC doesn’t experience all of these complications, and a person’s symptoms can change over time. The different complications of TSC are outlined in more detail below.

    Tumors in the brain

    In about 95 percent of affected children, their brains are affected in some way. Most children have some type of benign (non-cancerous) tumor:

    • Cortical tubers are hard, knobby lesions made up of a collection of abnormally sized neurons and supporting cells called glia. The tubers are most often found in the cerebral cortex—the outermost layer of the brain, commonly called the “gray matter.” The number, size and location of the tubers vary greatly and are thought to be what cause the seizures.
    • Subependymal nodules develop along ventricles in the brain, the structures holding the cerebrospinal fluid (CSF) that surrounds the brain. These lesions have the shape of wax dripping from a candle, so they used to be referred to as “candle guttering.” They are benign and generally don’t cause any problems; however, in 5 to 10 percent of cases, they degenerate into subependymal giant cell astrocytomas (described below).
    • Subependymal giant cell astrocytomas (SEGAs) are lesions that can grow and block the circulation of CSF around the brain and cause hydrocephalus. The buildup of CSF can cause a dangerous increase of pressure inside the head, so this condition requires neurosurgery to reduce the pressure and drain the extra CSF.

    All of these types of abnormalities can be detected by the brain imaging techniques magnetic resonance imaging (MRI)and computed tomography (CT).

    Seizures and epilepsy

    About 80 to 90 percent of people with tuberous sclerosis have epilepsy, a condition in which a person is prone to having seizures.

    About a third of the time, the epilepsy starts out as a type of seizure called infantile spasms, usually when a child is about 4 to 6 months old. (Infantile spasms usually don’t happen before a child is two weeks old or after 18 months.) They involve brief, but often repetitive, muscle contractions and movement in the head, trunk, arms and legs.

    • The spasms often happen in clusters.
    • Children usually cry when these spells happen. Often, they look like they have colic or an abdominal problem.
    • The spasms often happen when a child is waking up.

    As a child with TSC gets older, he may develop partial or generalized seizures. See types on our seizures webpage to learn more about the different types of seizures.)

    Neurodevelopmental and behavioral disorders

    Children with TSC are at an increased risk of having neurodevelopmental and behavioral disorders.

    Autism spectrum disorders (ASDs) are especially common among children with TSC; it’s been estimated that up to 60 percent of children with TSC develop an ASD. ASDs are developmental conditions that may involve difficulties communicating and interacting with other people, along with unusual, restricted or repetitive behaviors. They include three specific diagnoses: autism, Asperger’s syndrome and pervasive developmental disorder – not otherwise specified (PDD-NOS).

    Experts don’t fully understand why children with TSC often develop ASDs and other developmental and behavioral conditions, and this is an intense area of investigation. But we do know that early diagnosis and therapy can be enormously helpful to children with these conditions. So it’s important to talk with your doctor if you have any concerns about your child’s development or behavior.

    Skin lesions

    Almost all children with TSC have some type of lesions on their skin.

    The earliest sign of TSC may be white skin patches (hypomelanotic macules) on your child’s body, since babies are born with them.

    • As your child gets older, a facial rash with a characteristic butterfly distribution (facial angiofibroma) may appear across his nose and cheeks.
    • During the teenage years or later, small bumps may form under his fingernails or toenails (ungual fibromas). Your child might also have a shagreen patch, an area of skin that is thickened and dimpled like an orange peel, on his lower back.

    None of the skin lesions are harmful. However, the facial angiofibromas can be distressing because of their prominent location. Look the under Treatment tab to see the variety of treatmentsavailable for this rash.

    Heart tumors

    Children with TSC are often born with benign (non-cancerous) heart tumors called cardiac rhabdomyomas. It’s estimated that as many as two-thirds of people with TSC have these tumors. They usually don’t cause any symptoms, and they often regress on their own, either shrinking or completely disappearing as children get older.

    Cardiac rhabdomyomas, like the white skin patches, are often an early sign that a child may have TSC. They’re usually detected in newborns, but they may also be picked up during a routine prenatal ultrasound. Infants who have cardiac rhabdomyomas have a 50 percent chance of having TSC; the other 50 percent have just the cardiac rhabdomyomas.

    Although the tumors are benign and usually don’t cause any problems, they sometimes block blood flow in the heart and cause an abnormal heart rhythm (arrhythmia). Occasionally, this needs to be treated with medications or surgery.

    Eye lesions

    TSC affects children’s eyes more than half of the time.

    • Many children with TSC have lesions on the retina called hamartomas. Most of these lesions stay dormant, so they don’t usually cause a loss in vision.
    • White patches (“hypopigmented” areas)—similar to the white skin patches—sometimes appear on the retina, iris, or even eyelashes. These aren’t harmful and don’t require treatment.

    Kidney lesions

    Most children who have TSC have some type of lesion in their kidneys. Usually, these lesions grow very slowly and don’t cause problems during childhood.

    • Benign kidney tumors called renal angiomyolipomas account for most of the kidney abnormalities seen in children with TSC. Angiomyolipomas are made up of blood vessels, muscle and fat. They usually grow very slowly and aren’t problematic before a child reaches young adulthood. By the time a person with TSC is in his 20s, angiomyolipomas may bleed and can also cause lower back pain.
    • Simple cystsaccount for 25 percent of the kidney abnormalities seen in people with TSC. They can appear or disappear at any time. If there are multiple or large renal cysts, they can damage the kidneys.
    • Renal cell carcinomais the only type of malignancy (cancer) associated with TSC. These tumors are rare, especially in children.

    In addition to these different types of kidney lesions, about 70 to 80 percent of people with TSC develop other abnormalities in their kidneys, but these usually don’t cause any symptoms, especially in children.

    Even though the kidney lesions that are associated with TSC generally don’t cause symptoms or require treatment during childhood, it’s important for your child to be monitored by ultrasound in order to catch any problems that may develop.

    Lung lesions

    Lesions can also develop in the lungs, although this has been seen primarily in women over 30 and is quite rare (1 percent of women with TSC).

    The lung (pulmonary) lesions seen in women with TSC include pulmonary cysts and lymphangioleiomyomatosis (LAM). These rare lesions sometimes cause severe lung problems. The first symptoms of these lesions may be shortness of breath, coughing, coughing up blood or spontaneous lung collapse.

    FAQ

    Q: What is tuberous sclerosis?

    A: Tuberous sclerosis complex (also commonly referred to as tuberous sclerosis, TS and TSC) is a condition that affects multiple systems in a child’s body. It can cause tumors and other abnormal tissue to grow in many organs, including the brain, skin, heart, eyes, kidneys and lungs. Almost all of these lesions are benign (not cancerous), but they can cause a variety of problems. Many children with TSC develop epilepsy, a condition in which a child has unprovoked seizures. Symptoms of TSC usually appear before a child is 6 months old.

    Children with TSC often have some type of developmental delay or behavioral problem. Many children are diagnosed with an autism spectrum disorder

    Q: How can the disease cause all of those different complications?

    A: TSC is caused by a change (mutation) in either of two genes. Scientists believe that these genes work together to suppress abnormal growth of cells. So when a person has an altered copy of one of the genes, tumors and other abnormal tissues are allowed to grow in a number of different organs. It appears that these genes also affect how brain cells grow and connect with each other, which may be why children with the condition also can have developmental and behavioral difficulties and seizures.

    Q: Do all children with TSC have all of those problems?

    A: No.Each person who has TSC is affected in a different way. In some children, the disease is very mild, whereas for others, it can involve life-threatening complications. A person can also have very different symptoms at different times in their lives.

    Q: How is TSC diagnosed?

    A: TSC can involve many different symptoms, many of which also occur in children who don’t have TSC. So a doctor has to look for a group of features in order to make the diagnosis. Your child’s medical team may perform a number of different tests including a painless skin examination using a Wood’s lamp, brain imaging scans such as MRI, an echocardiogram, kidney ultrasound and an eye exam. Genetic testing is also an important part of making the diagnosis.

    TSC is often diagnosed in infants, since some of the symptoms, such as white skin patches, are present at birth. Sometimes, heart tumors are detected by prenatal ultrasound, which can indicate that a child may have TSC. On the other hand, some people who are very mildly affected by TSC are not diagnosed until adulthood; in fact, experts believe that some people who have TSC are never diagnosed.

    Q: How did my child get this disease?

    A: TSC is a genetic condition, meaning it’s caused by a DNA change (mutation). In most cases, the condition is “spontaneous,” meaning that a child with TSC is the first person in his family to have the disease, because he has a new DNA change. About a third of children with TSC inherited it from a parent.

    In either case, it’s important to remember that TSC is simply caused by changes in DNA; your child’s disease is not your fault.

    Q: Is there a cure? What is the long-term outlook for a child with TSC?

    A: Unfortunately, there is no cure for TSC yet. But there are effective treatments for many of the symptoms. The prognosis for a child with TSC varies depending on his particular complications, but most children with TSC who are under an experienced physician’s care can expect to live active and productive lives and have a normal life expectancy.

    Many of the complications of TSC can be managed effectively if they’re caught and treated early. So it’s important for your child to be monitored throughout his life. Our tuberous sclerosis specialists at Children’s work closely with your family to stay on the lookout for any symptoms that may come up.

    Q: Will my child have developmental problems or an intellectual disability?

    A: There’s no simple answer, since different children are affected very differently. Many children with TSC do have some type of developmental delay, learning disability or behavioral problems. Autism spectrum disorders (ASDs) are common among children with TSC.

    Early diagnosis and therapy can be enormously helpful to children with developmental difficulties, so your child’s medical team will watch his development closely. Talk with your doctor if you have any concerns about your child’s development or behavior.

    Q: How will this condition affect my child when he becomes an adult?

    A: TSC can affect people in different ways at different times in their lives. Some of the symptoms that can affect your child early on may resolve as he grows up. For example, children’s epilepsy often resolves as they grow up, and the heart tumors characteristic of TSC usually regress on their own, either shrinking or completely disappearing as children get older. On the other hand, other complications, such as kidney tumors, occasionally cause serious problems that require treatment in adulthood. So it’s important for your child to be monitored closely not only during childhood but throughout his life.

    Q: How common is TSC?

    A: It’s estimated that TSC affects about 50,000 people in the United States and one million worldwide; one in 6,000 children are born with the disease. It affects all ethnic groups, and girls and boys have an equal chance of having the disease.

    Q: Is there research going on to learn more about the disease and find better ways to treat it?

    A: Yes. In particular, some researchers are optimistic about the drug rapamycin. Laboratory experiments and clinical studies give reason to hope that this medication may be able to reverse symptoms of TSC, but a lot still needs to be learned. Our tuberous sclerosis team is playing a major role in these efforts. Visit Research & Innovation to find out more about the TSC research going on at Children’s.

    Questions to ask your doctor

    You and your family are a central part of your child’s care team—not simply recipients of care. We’ll rely on you to share your observations and ideas about your child’s health with us, and we want to make sure that you, in turn, get answers to your questions and understand our recommendations and any treatment options we may present to you.

    If you’re coming to Children’s Hospital Boston because your doctor suspects that your child may have tuberous sclerosis or he’s just been diagnosed, you probably have a lot of questions and fears on your mind. But at the appointment, it can be easy to forget the questions you wanted to ask. It’s often helpful to write them down ahead of time so that you can leave the appointment feeling like you have the information you need. Don’t be afraid to ask about anything you’re concerned or wondering about.

    Some of the questions you may want to ask include:

    • How did you arrive at the diagnosis of tuberous sclerosis?
    • Does my child need any further testing?
    • What is tuberous sclerosis? How serious is it?
    • What may have caused this condition? Are our other children at risk of having it? Do we need to be evaluated ourselves?
    • What kind of testing and care will my child need to have in the future?
    • What symptoms do we need to watch for? What should we do if they happen?
    • Does my child need behavioral therapies? How can they help?
    • How can I access those therapies? Is my child eligible for government-sponsored early intervention services?
    • When does my child need to see you again?

    Tell your child’s doctor about any care your child is receiving elsewhere or research studies you’re participating in. That will help ensure that your child’s care is well coordinated. If you’re thinking about starting a medication, herbal therapy or vitamin supplement or if you’d like to try a special diet, be sure to discuss it with your child’s doctor first, since some of these may not be safe for your child. Talking with your child’s doctor first can help to avoid complications.

    Connecting with families
    Our Multi-Disciplinary Tuberous Sclerosis Program hosts a yearly Family Conference, where our clinicians and researchers discuss research developments and other issues that are important to many families of children with TSC. Find out more on the program’s Events page.
  • Tests

    A wide variety of symptoms can be caused by tuberous sclerosis complex (TSC). Many of them, such as seizures and developmental delays, also occur in many children who don’t have TSC. So doctors look for a group of symptoms to make the diagnosis. Some of the symptoms are visible from birth, so the diagnosis can often be made when a child is an infant.

    In order to determine whether your child has TSC, your child’s medical team will perform a number of different tests:

    • A doctor will perform a careful physical examination of your child and talk in-depth with you about his medical history and family history.
    • The doctor will examine your child’s skin for several different types of skin lesions. One type, white patches called hypomelanotic macules, can be hard to see, especially on infants or children with pale skin, so the doctor may use an ultraviolet light called a Wood’s lamp to find them, which is painless.
    • Your child may have a brain-imaging scan such as magnetic resonance imaging (MRI) to look for benign tumors that often occur in children with TSC.
    • Doctors may use an echocardiogram (ECHO, an ultrasound of the heart) to look for heart tumors.
    • Kidney (renal) ultrasound helps doctors identify any kidney lesions.
    • Genetic testing plays an important role. If your child’s test is positive (if a TSC mutation is found), that is enough to indicate that your child has TSC. However, about 20 percent of people who have TSC don’t have an identifiable mutation, so a negative genetic test result can’t rule out TSC.

    Because TSC can involve many different features in different body systems, it’s often important for multiple specialists to help make the diagnosis. At Children’s Hospital Boston, children who may have TSC are evaluated in our Multi-Disciplinary Tuberous Sclerosis Program which includes specialists from many different fields who work closely together.

    Prenatal evaluation and evaluation of family members

    Sometimes, the heart tumors that are characteristic of TSC are seen before a baby is born, during a routine prenatal ultrasound. These heart tumors can be an early sign that a child may have TSC. If your obstetrician suspects that your baby may have this type of lesion, she may refer you to Children’s Advanced Fetal Care Center for advanced ultrasound screening. Our tuberous sclerosis team can meet with you there, and then once your baby is born, we will evaluate your child in the Multi-Disciplinary Tuberous Sclerosis Program

    TSC is caused by genetic (DNA) changes. In most cases, the DNA change is “spontaneous,” meaning that a child with TSC is the first person in his family to have it. But in about a third of cases, the condition was inherited from a parent. Occasionally, a parent has TSC but doesn’t know it because her symptoms have been very mild. So if your child is diagnosed with TSC, you may need to be examined and have genetic testing done, as well.

    If you have a child with TSC, there is also an increased likelihood that your other children will have the condition, as well. In some cases, if the family of a child with TSC has another pregnancy, we may refer them to the Advanced Fetal Care Center for advanced ultrasound.

    Watching for complications from TSC

    Evaluating your child for TSC involves more than just putting a name on your child’s condition: It involves learning exactly what TSC looks like in your child. That’s true for any condition, but TSC is one disease where it’s especially true, since the complications can be so different in each child.

    Many of the complications associated with TSC can be managed much more effectively if they’re treated early, so your child’s team will monitor him closely, both when we’re first evaluating him and as he grows up. Additional tests and evaluations your child may need include:

    Our team of specialists in the Multi-Disciplinary Tuberous Sclerosis Program will talk with your family about the types of complications they’re going to be on the lookout for and the kinds of testing your child may need. By working together as an integrated team and performing most of your child’s examinations and testing in one place, we work to make your child’s care as well-coordinated as possible.

  • If your child has just been diagnosed with tuberous sclerosis (TSC), you may be feeling overwhelmed, worried about your child's health and wondering what's in store for your family. We want you to know that you're not alone. Our Multi-Disciplinary Tuberous Sclerosis Program at Boston Children's Hospital brings together specialists from each of the different fields in which children with TSC may need care. We work as a team so that your child's treatment is well coordinated and so that your family can more easily navigate his course of treatment.

    Unfortunately, there is no cure for TSC yet. But there are effective treatments for many of the symptoms. For example:

    • A number of different anti-epileptic are available to treat infantile spasms and other types of seizures that are associated with TSC.
    • Laser surgery can correct some skin abnormalities.
    • Medications can regulate an erratic heartbeat (arrhythmia) caused by tumors in the heart.
    • A variety of surgical procedures can remove tumors and help preserve the function of affected organs.
    • For developmental disorders, such as autism spectrum disorders, a range of behavioral therapies and educational approaches can be very effective.
    • Clinical trials are going on to develop drugs and other new treatments for TSC.

    Many of the complications of TSC can be managed much more effectively if they're treated early. So we monitor your child carefully and work closely with your family to stay on the lookout for any symptoms that may come up. Because we have a team of experts from each of the specialty areas where children with TSC may have problems—and because each of them have experience in caring for children with TSC—we can anticipate the problems that your child may have and provide the best possible care for him.

    Caring for children with developmental and behavioral disorders

    Parents are often particularly concerned to learn that many children who have tuberous sclerosis also develop neurodevelopmental disorders, including autism spectrum disorders. Experts don't fully understand the connections between TSC and the developmental conditions, and why some children with TSC develop these conditions while others don't. But we know that early diagnosis and therapy can be enormously helpful to children with developmental disorders. So if your child is diagnosed with TSC, we will evaluate him carefully for these conditions and help your family access any therapies he may need.

    ASDs, along with other neurodevelopmental disorders and learning disabilities, are very diverse conditions—not simply one-size-fits-all diagnoses. So Children's specialists perform in-depth evaluations to understand your child's unique strengths and challenges, and we make detailed recommendations about the types of therapy that may be helpful for him. Our tuberous sclerosis team takes a collaborative approach to assessing your child's developmental needs—involving specialists from Neurology, Developmental Medicine and Psychiatry—in order to conduct a thorough evaluation and make treatment recommendations.

    Our group also includes an educational consultant, who provides crucial support to families in putting the plan for therapy into action. Most of the behavioral therapies and teaching approaches used to help children with developmental challenges are provided through programs run by your state and local school system. These include early intervention services for children under age 3 and special education services for children who are 3 and older. Our educational consultant can help your family find the services that are right for your child.

    Some children also benefit from several related therapies, particularly speech-language therapy and occupational and physical therapy. At Children's, occupational and physical therapy are provided in the Occupational Therapy Service and Physical Therapy Department. Communication therapies are offered in the Children's Center for Communication Enhancement, which has developed many innovative strategies for helping children communicate to the very best of their abilities. The Center includes the Autism Language Programand the Augmentative Communication Program.

    Often, some of the toughest TSC symptoms to manage are behavioral difficulties, like attention problems, hyperactivity, aggression, irritability or destructive behaviors including self-harm. Treating these symptoms is a crucial part of caring for children with TSC. Our team in the Multi-Disciplinary Tuberous Sclerosis Program includes a psychiatrist who is experienced in working with children who are having these sorts of problems. For many of these symptoms, medications are available that can be very helpful.

    Treating seizures and epilepsy

    Many children who have TSC develop epilepsy, a condition in which a child has unprovoked seizures. One type of seizures, infantile spasms, can start while your child is still an infant. We will talk with your family in detail about what to watch for so that if your child does start having seizures, we can begin treatment as early as possible.

    There are several anti-epileptic medications that are particularly effective in treating infantile spasms in children with TSC. There are also other medications that can be used if your child goes on to develop other types of seizures.

    The neurologists on our tuberous sclerosis team are experienced in treating seizures in children with TSC. We also draw on the extensive expertise and resources of the Epilepsy Program at Children's.

    Visit the Epilepsy page to learn more about treatments for children with epilepsy.

    Treatments for skin lesions

    For many children, it's important to treat skin lesions caused by TSC. In particular, lesions on the face (generally facial angiofibromas) can be troubling for many children. Removing them early, while the lesions are still small, can make them much easier to manage. A dermatologist on our tuberous sclerosis team can use a variety of treatments, including laser ablation.

    Experimental treatment

    It's possible that your child will be eligible to participate in one of our clinical trials at Children's. These studies are useful for a multitude of reasons: Some trials are designed to evaluate the effectiveness of a particular treatment; others help doctors to better understand how and why certain conditions occur.

    Participation in any clinical trial is completely voluntary: We will take care to fully explain all elements of the treatment plan before the trial starts, and you may remove your child from the study at any time.

    You can read about our research on treatments for children with TSC on the Research & Innovation tab. You can also find out more about clinical trials on the Children's clinical research page.

    Coping and support

    A diagnosis of tuberous sclerosis can feel overwhelming, and you probably have a lot of questions on your mind. Why did this happen to my child? Is he going to be okay? What do we do next?

    Boston Children's Hospital's tuberous sclerosis team has a great deal of experience in working with families in your situation, and we're dedicated to supporting you as you cope with your child's diagnosis and navigate his course of care. We will talk with you in-depth about your child's condition and answer any questions you have.

    This list outlines some of our resources at Children's and in the wider community that may be helpful to you:

    Resources at Children's

    • Patient education: Our nurse coordinator in the Multi-Disciplinary Tuberous Sclerosis Program will walk you through your child's treatment and help answer any questions you may have. In addition, our program is managed by a licensed genetic counselor who is experienced in working with families like yours; she will talk with you and answer any questions you have about tuberous sclerosis and genetic testing.
    • If your child has developmental or learning difficulties, our educational consultant connects with your family to help you access resources in your community and put into action the plan that your child's medical team has recommended. This isn't just a one-time contact, but an ongoing relationship to support your family as your child grows up and his needs change.
    • Family to family: Want to talk with someone whose child has been treated for tuberous sclerosis? Other families at Children's have been down a similar road and can share their experience. We can put you in touch with other families through our tuberous sclerosis Family to Family Program, which is run by a parent of a child in our program.
    • Faith-based support: If you and your family find yourselves in need of spiritual support at any time during your child's treatment, we can connect you with the Children's chaplaincy. Our program includes nearly a dozen clergy representing Episcopal, Jewish, Lutheran, Muslim, Roman Catholic, Unitarian and United Church of Christ traditions who will listen to you, pray with you and help you observe your own faith practices during your treatment experience.
    • Social work and mental health professionals: As part of the broader social work program at Children's, our tuberous sclerosis team includes a social worker who has helped many other families who have a child with TSC. The social worker can offer assistance with issues such as arranging transportation, dealing with financial issues and making transitions to adulthood. And if your child or family is in need of counseling, we can help you find an appropriate provider.

    On our Children's For Patients and Families site, you can read all about:

    • getting to Children's
    • accommodations
    • navigating the hospital experience
    • resources that are available to your family at Children's

    Resources in Massachusetts

    If your child has developmental difficulties and you live in Massachusetts, these resources may be helpful to your family:

    • The Federation for Children with Special Needs is a center for parents and parent organizations to work together on behalf of children with special needs and their families. They provide an extensive manual on education for children with special needs, “A Parent's Guide to Special Education” (pdf), at their website.
    • These websites give information on Early Intervention in Massachusetts, a service available to families of children with developmental difficulties between birth and age 3:

    If you live outside of Massachusetts, our team can direct you to helpful resources.

    National and international organizations and agencies

    The Tuberous Sclerosis Alliance (TS Alliance) is a national organization dedicated to finding a cure for tuberous sclerosis while improving the lives of those affected. Two of their resources that may be particularly helpful to you are:

    Watch a presentation from a Children's TSC expert
    View a presentation about TSC given by Mustafa Sahin, MD, PhD, director of Children's Multi-Disciplinary Tuberous Sclerosis Program and a member of the advisory board of the TS Alliance. Sahin also gave a presentation on autism spectrum disorders and TSC. Both talks are provided on the website of the TS Alliance.
  • Research & Innovation

    In addition to providing comprehensive care for children and their families today, our tuberous sclerosis experts at Children’s Hospital Boston are dedicated to advancing what’s possible for children with TSC in the future. Our physicians and researchers are leading a number of studies and trials aimed at understanding the root causes of the disease and finding treatments.

    One of the most unique features of Children’s TSC research is that in addition to treating our patients and conducting clinical studies, we’re also studying the disease in the laboratory. We conduct both kinds of research so that we can get the most complete understanding of TSC possible, and so discoveries from the laboratory can move quickly into the clinic. Experts from many different fields—neurologists, psychologists, neuroradiologists and others—work closely with each other on these efforts so that together, we can tackle TSC.

    Looking for early signs of autism spectrum disorders in children with TSC

    Many children with TSC also develop an autism spectrum disorder (ASD). For children with ASDs, catching the symptoms early and starting behavioral therapies right away can make a big difference. Many researchers believe that intervening even sooner might make a greater impact, but in order to do that, we first have to be able to see the symptoms early on.

    In an effort to be able to identify high-risk children as early as possible, the laboratory of Charles Nelson, PhD, research director of Children’s Developmental Medicine Center, is looking for subtle signs that might emerge in early infancy. He and his team are studying babies’ brain activity and behaviors like where their eyes move when they look at a face. Their latest data suggest that some of these measures can identify high-risk infants as young as 3 months old. Read more about their work in Arresting autism.

    Another strategy for finding early indicators of ASDs is to look at the brain. Could there be some telltale marker of autism risk on children’s brain imaging scans? Simon Warfield, PhD, research director of Radiology, is investigating that possibility using an advanced form of magnetic resonance imaging (MRI) called diffusion tensor imaging (DTI).

    Clinical trials of potential new medications for TSC

    Therapies are available to manage many of the possible complications of TSC. But the great hope of TSC physicians and researchers is that an effective treatment will be found for the disease itself. Thanks to recent scientific progress in understanding in-depth how TSC1 and TSC2 mutations cause problems in cells, researchers now have some promising leads on how that process might be reversed by drugs—and Children’s stands at the forefront of these efforts.

    Mustafa Sahin, MD, PhD, and his colleagues in Children’s Multi-Disciplinary Tuberous Sclerosis Program are studying a drug, rapamycin, that they hope will reverse symptoms of TSC. Rapamycin is an immunosuppressant that’s already commercially available; preliminary trials using it in TSC patients are encouraging, but a lot still needs to be learned. The Children’s team is looking to see whether the drug is able to reverse children’s TSC complications such as brain tumors. They’re also working to find out whether it can help with neurocognitive problems, such as autistic symptoms, seizures and sleep disorders

    So far, there’s no medication to treat the symptoms of autism spectrum disorders (ASDs). But many researchers hope that the studies going on at Children’s may start to change that. Read more about these exciting developments in Can drugs improve cognitive deficits in developmental disorders?

    Genetics

    We know that most cases of tuberous sclerosis are caused by mutations in two genes, TSC1 and TSC2. But there’s still a lot that we don’t understand about what can cause TSC—and about what determines how the disease is going to impact your child. Sahin and his colleagues are trying to fill in those gaps by studying the DNA of children with TSC and their families.

    In particular, the researchers want to know:

    • In about 80 percent of people with TSC, genetic testing detects a mutation in TSC1 or TSC2. But what about the other 20 percent? Is their disease caused by a different mutation?
    • Why is it that different people with TSC can have totally different symptoms—even if they have the same DNA mutation?

    If we can answer those questions, then genetic testing could provide information for more families. What’s more, if it turns out that additional genes are involved in TSC, that could give researchers entirely new information about the way the disease works, and how it could be treated.

    Basic research connections

    Mustafa Sahin, MD, PhD runs a research laboratory in which he and his colleagues study mice that have a TSC -like syndrome, so that they can understand how the disease comes about and test potential treatments. Those studies give them a wealth of important information that helps them understand how TSC works in children and identify the most promising avenues for treatment.

    Children’s also has active laboratory research programs dedicated to advancing care for many of the possible complications of TSC, such as epilepsy and autism spectrum disorders. Learn more on the Epilepsy and Autism spectrum disorders pages.

    Clinical Trials

    Find out more about the innovative clinical trials available at Children’s. You and your child may also want to watch this video, where the real experts on clinical research studies—the children participating in them—tell about their experiences. Or you can read about it in “A day in the life of the Clinical and Translational Study Unit”.

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