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Tuberous Sclerosis or Tuberous Sclerosis Complex (TSC) was first described in the 1880s and was also known as Bourneville's Disease. It is a rare genetic disorder causing tumors to develop in many different organs of the body. These tumors are usually benign and primarily affect the brain, eyes, heart, lungs, kidneys and skin. In addition, pitting of the teeth is a common characteristic. Tuberous Sclerosis occurs in all races and ethnic groups and in both sexes. It is estimated that the incidence of Tuberous Sclerosis is approximately 1 in 6,000 live births.
The name "Tuberous Sclerosis" is derived from the characteristic root-like growths or tubers in the brain, which calcify as the individual ages, becoming hard or sclerotic.
The first signs of Tuberous Sclerosis in children are often seizures and/or some cognitive delay. Most individuals with Tuberous Sclerosis are affected by tumors in only some of the organs. Therefore, symptoms vary greatly from one individual to the next. Symptoms may not even be apparent until later in life. The severity of Tuberous Sclerosis ranges from mild (such as mild skin lesions) to severe (such as mental retardation or kidney failure). Many medical tests are performed in order to diagnose Tuberous Sclerosis.
Tuberous Sclerosis commonly affects the central nervous system, and, depending on the organs affected, causes a combination of symptoms including developmental delay, seizures, behavioral problems, kidney problems and skin lesions. Symptoms specific to the areas/organs involved include:
- Behavior - Children with Tuberous Sclerosis may experience aggression, behavioral outbursts, attention deficit hyperactivity disorder, obsessive-compulsive tendencies, repetitive behaviors, self-injury and destructive behaviors. They may also be nonverbal and show other autistic-like behaviors.
- Cardiac - Cardiac rhabdomyomas in early infancy and childhood are the most common tumors in the heart caused by Tuberous Sclerosis. In most cases, these tumors shrink as the individual grows older, but may peak again in adolescence. Electrocardiograms may show abnormal heart rhythms; however, many of these tumors are asymptomatic.
- Brain - There are several different types of brain tumors that may be associated with Tuberous Sclerosis. Some individuals may have all or only some of these brain lesions. Others may have no brain involvement at all. It is believed that these brain tumors (cortical tubers) produce seizures in individuals with Tuberous Sclerosis. In fact, seizures occur in approximately 60 to 90 percent of these individuals. Other symptoms of brain tumors may be headaches, blurred vision, vomiting, nausea, change in appetite or changes in mood and behavior.
- Lungs - Tuberous Sclerosis produces three different types of lung tumors, which are more commonly found in women. The average onset of these lung tumors is between 32 and 34 years of age. Early symptoms may include shortness of breath after only mild exertion, coughing or spontaneous pneumothorax.
- Skin - Individuals with Tuberous Sclerosis may develop patches of skin resembling an orange peel. These tough, dimpled areas are called shagreen patches. Tumors (facial angiofibromas) may also appear on the face. Fibrous plaques may be visible on the forehead. Fingernails or toenails may be surrounded by fibrous growths, called periungual or subungual fibromas. Some patches of skin may become lighter than the rest of the skin (hypomelanotic macules).
- Kidneys - There are five different types of kidney tumors or cysts associated with Tuberous Sclerosis. These tumors and cysts often produce no initial symptoms. However, if allowed to grow, they may interfere with kidney function. They may also begin to bleed producing blood in the urine (hematuria). Other signs of kidney problems may include back or abdominal pain.
- Eyes - Retinal lesions (hamartomas) of varying size and type may occur in individuals with Tuberous Sclerosis. Often retinal hamartomas remain dormant. However, if the tumor is large and located in the macular region, visual impairment may occur. Less common eye involvement may include mulberry-type lesions next to the optic disk or abnormal pigmentation of the iris.
- Teeth - Pitting of both baby and adult teeth occurs in approximately 90 percent of individuals with Tuberous Sclerosis.
- Difficulty in Social Settings - Especially in cases where skin lesions are highly visible, individuals may experience problems and discomfort in social situations.
- Developmental Delays - Individuals with Tuberous Sclerosis may show varying degrees of developmental delays, ranging from mild learning disabilities to mental retardation.
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The cause of Tuberous Sclerosis has been identified as a change in either of the genes, TSC1 (located on chromosome 9) or TSC2 (located on chromosome 16). Research continues to find out what these genes do and why a change or defect in them produces Tuberous Sclerosis.
Approximately one-third or 33 percent of the cases of Tuberous Sclerosis involve individuals who have inherited it from a parent who also has the disorder. If one parent has Tuberous Sclerosis a child has a 50 percent chance of inheriting the disorder. In the rest of the cases (approximately 66 percent) neither parent shows any symptoms of Tuberous Sclerosis. It seems that in these cases one of the normal genes from either parent changes to the abnormal form, resulting in a new incidence of Tuberous Sclerosis in the child. Such cases are known as "sporadic" occurrences.
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Most of the individuals who are only mildly affected by Tuberous Sclerosis lead active, productive lives. However, treatment is available for a number of the symptoms. Surgical removal of the tumors may become necessary in cases where they are producing serious symptoms. Dermabrasion or laser treatment may be used to treat facial or skin tumors. Cosmetics may also cover the light patches of skin. Early intervention with occupational therapy and a special education setting may help in developmental delays. Medications may be used to help control seizure activity. The progress of individuals with Tuberous Sclerosis should be carefully monitored by a physician.
IDTC works with children who have Tuberous Sclerosis. During the pre-admission process, very careful attention is given to the degree of medical involvement a child may present. Because the degree and severity of Tuberous Sclerosis and its accompanying medical issues vary greatly, the screening process includes a thorough evaluation of the child and IDTC’s ability to meet the child’s needs, primarily in the medical area. Once a decision is made that IDTC can appropriately meet the child’s medical needs, the Individual Treatment Plan incorporates steps to meet these needs, and appropriate physicians are utilized to do this successfully.
Because children with Tuberous Sclerosis may experience aggression, behavioral outbursts, attention deficit hyperactivity disorder, obsessive-compulsive tendencies, repetitive behaviors, self-injury and destructive behaviors, IDTC staff evaluate and determine specific behaviors in need of active treatment. Behavioral intervention strategies, along with positive motivational programs designed to improve pro-social and positive behaviors, are defined, implemented and incorporated into the Individual Treatment Plan.
At IDTC, our treatment team considers the strengths and needs of each child in developing the Individual Treatment Plan. We work not only to build the self-esteem of each child, but to assist each child in developing, attaining and maintaining skills in all areas of functioning to the highest potential possible. We establish a consistent structure and routines which become familiar and comfortable for the child. Our education staff provide a curriculum and classroom support to bring out the child's strengths. An Individualized Education Plan (IEP) is developed for each child after formal evaluation, which utilizes methods based on the child’s best learning mode and strengths.
The staff at IDTC recognize that each child is unique with individual strengths and needs. Our priority is always the well being of each child. If we find that IDTC cannot offer the very best care and services for your child, we are happy to help facilitate placement in another facility.
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Feel free to contact us if you have any specific questions or would simply like more information or resources.
E-Mail (please click on the link): Catharine Crockett, Admissions
Phone: 1-317-815-0505
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Tuberous Sclerosis Alliance
National Organization for Rare Disorders (NORD)
March of Dimes
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This information is provided as a general overview only and is not intended as medical advice. This information should not be used to diagnose or treat any health problem, disease or medical condition. It is not provided as a substitute for professional care. If you have any health concern, please consult the health care provider of your choice.
© Copyright 2005 Indiana Developmental Training Center LLC
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