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The Arc Answers: Tuberous Sclerosis Complex
How many people have Tuberous Sclerosis Complex?
- Around 1 million people worldwide, including 50,000 in the United States, are known to have TSC. However, researchers believe that close to 1 in 6,000 people are born with TSC. Many cases are undiagnosed due to lack of information about the syndrome and the mild nature of symptoms in some individuals.
What causes Tuberous Sclerosis Complex?
- Two genes, TSC1 on chromosome 9 and TSC2 on chromosome 16, have been identified as responsible for causing TSC, but only one needs to be affected for a person to have TSC. It is estimated that one-third of children with TSC inherit this mutation from one of their parents; in the remainder of cases one of the TSC genesspontaneously mutates during conception. Other possible causes are still being studied.
What is the connection between TSC and Autism Spectrum Disorder?
- Approximately 25-60 percent of individuals with TSC develop characteristics of autism, though it is unclear why there is a higher occurrence of these symptoms. In children with TSC, the autism diagnosis is often delayed or unrecognized, but is important so children can receive appropriate services and supports.
What are the primary characteristics of Tuberous Sclerosis Complex?
- The physical effects of TSC range from a few skin lesions to multisystemic involvement. Characteristics may include: the formation of lesions or noncancerous tumors on any organ and skin abnormalities like light patches, thickened skin, reddish bumps on the nose and cheeks, or small tumors around fingernails. Approximately half of all people with TSC have some degree of cognitive delay, and people with brain lesions often exhibit behavioral characteristics like hyperactivity, aggression, and sleep disturbances.
How is TSC diagnosed?
- Doctors diagnose TSC based on a series of tests, which check for a variety of symptoms that differ in each person. Possible tests include: an eye exam, skin screening, a brain and kidney scan to check for lesions or growths, a brain wave recording (EEG) to check for epilepsy, and an echocardiogram of the heart. Genetic testing is also available, though it only has an 80 percent accuracy rate.
What are common medical concerns?
- Common medical concerns include: respiratory tract infections, seizures in 80 percent of people, congenital heart disease, eye problems, and GERD (a chronic acid reflux disease) in 70 percent of individuals. In addition to pain and discomfort, people with large or fast-growing tumors may also experience conditions such as: liver or kidney failure and fluid collection on the brain depending on which organs are affected.
What interventions have been proven helpful for people with Tuberous Sclerosis Complex?
- Regular check-ups with a doctor are recommended to monitor tumor growth. Doctors can also suggestappropriate medical interventions like surgery to remove tumors or medication for seizures and/or behaviorproblems. Early interventions, like educational support or occupational therapy, can help people with developmental delays achieve their full potential.
Where can I find other resources?
- Tuberous Sclerosis Alliance: http://www.tsalliance.org/pages.aspx?content=2
- Tuberous Sclerosis Association, UK: http://www.tuberous-sclerosis.org/
- National Institutes of Health: http://www.ninds.nih.gov/disorders/tuberous_sclerosis/detail_tuberous_sclerosis.htm
- Madison’s Foundation – Rare Disease database: http://www.madisonsfoundation.org/index.php/component/option,com_mpower/...