INFORMATION ON TS BEHAVIOUR

The diagnosis of epilepsy, autism and behaviour problems often is accompanied with "we don't know the specific cause" Now with the identification of two defective genes in Tuberous Sclerosis Complex individuals, those diagnosed with epilepsy, autism or behavior problems need to be checked out to see if Tuberous Sclerosis Complex is the source of their affliction.

With seizures occurring in up to 80% of those affected with TSC, anyone having seizures should consider having a Tuberous Sclerosis Complex workup to see if it's the root of the problem. The current major diagnostic tool is Magnetic Resonance Imaging (MRI). It reveals the existence of lesions, tubers (calcified areas) or tumors (soft tissue growths in the brain or body that are difficult to find by other methods). Without imaging, tumors can go undetected. ALso used are ultrasound, EKG, echocardiogram, CT Scan and skin examination with a UV Lamp to reveal the ash-leaf-shaped spots associated with TSC.

While the leading genetic cause of autism is "Fragile X" Tuberous Sclerosis has now proven to be the second leading generic cause of autism as more cases are discovered. There appears to be a connection between Tuberous Sclerosis Complex and autism that is not yet understood, but active research is exploring the link between the two diseases. The behavior problems that can result from Tuberous Sclerosis Complex can take many forms. The brain lesions and seizures can result in aggression, sudden rage, hyperactivity, attention deficit, obsessive/compulsive or repetitive behaviors, acting out or inability to speak even though a child is at "talking age". Some Tuberous Sclerosis Complex victims have been diagnosed with schizophrenia, bi-polar disorder (manic depression), depression or other psychiatric disorders. With correct diagnosis and treatment, the behaviors can be moderated for better quality of life.

There is now a genetic diagnostic test for TSC, since the discovery of the two TSC genes.

Correct diagnosis of Tuberous Sclerosis Complex as the source of epilepsy, autism, and behavior problems is critical for individuals and families touched by TSC. With correct diagnosis comes the best treatment and therapies for the symptoms and damage done by TSC. It also puts families on notice that everyone (fathers, mothers, brothers, sisters, grandparents, aunts and uncles) should be tested to see if the have TSC in a mild form. This is important to bring early treatment and also in planning a family. NTSA Vice President for Medical and Scientific Affairs, Vicky Whittemore, says they frequently hear frustration in the voices of parents of TSC children.

"The parents tell us they wish they'd known they had TSC," explains Whittemore. "They tell us it might have made a difference in their decision to have children, if they'd known there was a fifty-fifty chance their child might have TSC."