Intellectual disability was present in 57% of individuals with tuberous sclerosis complex (TSC). Those with TSC without intellectual disability had significantly lower mean IQ compared to unaffected siblings.
Tuberous sclerosis also affects many other organs in the body. It can affect the brain, spinal cord, lungs, heart, kidneys, skin, and bones. It can also cause intellectual disability, developmental delays, seizures, and learning disabilities.
The predominant neurological manifestations of TSC are seizures, mental retardation, and behavioral abnormalities, with seizures being the most common initial sign of central nervous system involvement.
Tuberous sclerosis complex (TSC), also known as tuberous sclerosis, is a rare genetic disease that causes non-cancerous (benign) tumors to grow in the brain and several areas of the body, including the spinal cord, nerves, eyes, lung, heart, kidneys, and skin.
Learning disabilities
Nearly half of all children with tuberous sclerosis will have a learning disability, which can range from mild to severe. This means they may: have poor memory. have a poor attention span.
Tuberous sclerosis complex (TSC) is a rare genetic disorder with an incidence of 1:6000 live births and estimated prevalence of 50,000 individuals in the United States. An estimated 40-50 percent of individuals with TSC have autism spectrum disorder, making TSC a leading genetic cause of syndromic autism.
Tuberous sclerosis is caused by changes (mutations) in either the TSC1 or TSC2 gene. These genes are involved in regulating cell growth, and the mutations lead to uncontrolled growth and multiple tumours throughout the body.
What is the normal life expectancy of a person with TSC? Most people will have a normal life span. There can be complications in organs such as the kidneys and brain that can lead to severe difficulties and even death if left untreated.
Tuberous sclerosis complex affects 1 in 6,000 to 10,000 people.
Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin.
Types of behavioral problems associated with TSC include sleep disturbances, attention deficit, hyperactivity, aggressiveness, anxiety, autism, and depression. Like other TSC-related manifestations, the severity of these behavioral disorders ranges widely from mild to debilitating.
Girls and boys have an equal risk of having the condition. A change in only one copy of a gene causes TSC. A child can inherit the condition if either parent has it. People with tuberous sclerosis have a 50 percent chance of passing the condition to their children.
Epilepsy is the most common presenting symptom in tuberous sclerosis. In 98% of these patients seizure is discovered and 75% of them have a seizure attack in the first year of life (4).
Distribution of IQ in individuals with TSC and unaffected siblings. The mean estimated IQ at phase 1 in participants with TSC was 67.4 (range 20–132), with 62.4% (n=78) under 70 (indicating intellectual disability).
Affected populations
Tuberous sclerosis is a rare genetic disorder that affects 1 in 6,000 newborns in the United States. Approximately 40,000 to 80,000 people in the United States have tuberous sclerosis. The prevalence in Europe is estimated to be approximately 1 in 25,000 to 1 in 11,300.
Tuberous sclerosis is an autosomal dominant disease, which leads to the assumption that it occurs equally in both females and males.
TSC (Tuberous Sclerosis Complex) is a rare genetic condition that causes tumours to grow in major organs of the body. It affects more than 2,000 people in Australia and thousands more families and friends.
Tuberous sclerosis symptoms are caused by noncancerous growths in parts of the body, most commonly in the skin, brain, eyes, kidneys, heart and lungs. But any part of the body can be affected. Symptoms can range from mild to severe, depending on the size or location of the growths.
Interpretation: Renal disease is a major cause of mortality in TSC. Lifelong surveillance and early intervention is warranted. SUDEP is also an important cause of mortality.
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.
The majority of individuals with mild symptoms generally have a normal life expectancy, provided that they manage any issues that may arise from tuberous sclerosis adequately.
TSC may cause other eye abnormalities, such as light patches on the retina, spots on the iris, lightly pigmented eyelashes, angiofibromas on the eyelids and small tumors on the surface of the eye. In most people with TSC, these eye manifestations cause no significant visual impairment.
There is good news for tuberous sclerosis complex (TSC) patients. The U.S. Food and Drug Administration (FDA) on 4 April 2022 approved the use of Noblepharma's HYFTOR™ (sirolimus topical gel) 0.2%, a treatment for facial angiofibromas (facial tumors) in adults and children 6 years of age and older.
In 1908 Vogt set forth the triad of intractable epilepsy, mental retardation, and adenoma sebaceum; this description (until relatively recently) represented the hallmark of tuberous sclerosis complex (TSC) to most clinicians.
Tuberous sclerosis complex is associated with significant psychiatric comorbidities like anxiety, depression, aggression, ADHD, disruptive behavior and are frequently reported.