Kristina Chew, PhD on June 23rd, 2008 – AutismVox
A letter abstract in the June 22nd Nature Medicine is entitled Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Tuberous sclerosis is a rare genetic disease that affects the central nervous system and causes benign tumors to grow on the brain, kidneys, heart, eyes, lungs, and skin. Those with TSC can also have seizures, mental retardation, behavior problems, and skin abnormalities as well as developmental delays and autism: In fact, half of those with TSC have autism and epilepsy. Mutations in one of two genes, TSC1 and TSC2, been have identified as causes of TSC. The Nature Medicine abstract also notes that “even individuals with tuberous sclerosis and a normal intelligence quotient (approximately 50%) are commonly affected with specific neuropsychological problems, including long-term and working memory deficits.” Read the rest of this entry »

ScienceDaily (Oct. 10, 2001) — ST. PAUL, MN –
More than one area of the brain is responsible for autistic behavior in children with tuberous sclerosis and brain lesions, according to an article published in the October 9 issue of Neurology, the scientific journal of the American Academy of Neurology.

The study included 26 children with tuberous sclerosis complex (TSC), a genetic disorder that causes benign lesions or tumors to form in many different organs, including the brain where the lesions are called “tubers.” Autism is a common occurrence in children with TSC. Read the rest of this entry »

There is no cure or specific treatment for tuberous sclerosis. Treatment focuses on controlling or relieving symptoms such as seizures or kidney problems. Skin tumors can be reduced or removed with laser treatment by a dermatologist. Individuals with the disease will be monitored and reevaluated periodically by a multidisciplinary team to keep problems in check.

What are the symptoms?
The benign (non-cancerous) tumors that develop cause many different types of symptoms based on where the tumors are located in the body.

In the brain – The tumors which grow here are hard and resemble potatoes or tubers, and are called cortical tubers. Calcified nodules may also develop in the brain tissue. Neurological problems which occur are seizure disorders (in 60-70% of affected individuals), learning disability (40% of individuals), and behavioral difficulties such as autism, hyperactivity, attention deficit, and destructive behavior. Read the rest of this entry »

Tuberous Sclerosis Complex (TSC) is a congenital genetic disease characterized by certain skin abnormalities and birthmarks, tuber-like growths in the eyes, the brain, and other internal organs, and varying severity of epilepsy and mental retardation. Once considered a rare disorder, Tuberous Sclerosis Complex affects about 1 in 6000/10,000 persons in the population. It is often difficult to recognize as it manifests itself differently from person to person. Individuals affected by the disease fall into three broad categories:  Read the rest of this entry »