Tuberous Sclerosis

A genetic disorder that causes a variety of neurological and physical symptoms, including seizures, mental retardation and tumors of the brain, kidneys, eyes or other organs.  Other signs of the disorder included white spots on the skin, characteristic bumpy skin rash over the cheeks below the eyes, delayed development of speech and language skills and physical handicaps such as motor difficulties.   The disease is inherited as an autosomal dominant disorder which means that each child of an affected parent, or of a parent who is unaffected by carries the defective gene, has a 50% chance of developing symptoms.

TS Masquerades as autism, epilepsy and behavioral problems.  Children and adults affected with epilepsy, autism and behavior problems need to become aware of TS. Major research gains made in recent years have proven that TS is the larges identifiable genetic cause of epilepsy, and the second largest identifiable cause of autism.  Some individuals with behavioral problems go undiagnosed as TS victims.

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

With seizures occurring in up to 80% of those affected with TS, anyone having seizures should consider having a TS workup to see if it's the root cause 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 imagining, 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 TS.

Correct diagnosis of TS as the source of epilepsy, autism and behavior problems is critical for individuals and families touched by TS. With correct diagnosis comes the best treatment and therapies for the symptoms and damage done by TS. It also puts families on notice that everyone in the family should be tested to see if they have TS in a mild form. This is important to bring early treatment, and also in planning a family. NTSA Vice President for Medical Scientific Affairs, Vicky Whittemore, says they frequently hear frustration in the voices of parents of TS children. "The parents tell us the wish they'd known there was a fifty-fifty chance their child would have TS."

O'Neil/Beriault Public Relations for the National Tuberous Sclerosis Association, Landover, MD (301) 459-9888.

LINKS

1: July 30, 2002

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