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Tuberous Sclerosis Tuberous Sclerosis complex (TSC) is a genetic disorder that causes nonGenetic Characteristics malignant tumours to form in many different organs, primarily in the brain, eyes, heart, kidney, skin and lungs. The aspects of TSC that most strongly impact quality of life are generally associated with the brain: seizures, developmental delay, intellectual disability and autism, The incidence and severity of the various aspects of TSC can vary widely between individuals. Although some individuals inherit the disorder from a parent with TSC, most cases occur as sporadic cases due to new, spontaneous mutations in TSC1 or TSC2. In this situation, neither parent has the disorder or the faulty gene(s). Instead, a faulty gene first occurs in the affected individual. Prevalence Current estimates place tuberous sclerosis complex affected births at one in 6,000. Nearly one million people worldwide are estimated to have TSC. Prevalence of ASD in Tuberous Sclerosis Studies show figures of 17–58% of TSC subjects manifesting autism and 0.4–3% of individuals with ASD having TSC. Equal sex ratio of individuals who have diagnosis of ASD and TSC. Generally those with TSC who are diagnosed with Autism have a cognitive impairment and seizures. According to Bolton et al. (2004) individuals with tuberous sclerosis are at very high risk of developing an autism spectrum disorder when temporal lobe tubers are present and associated with temporal lobe epileptiform discharges and early onset, persistent spasm like seizures. Causes TSC is caused by defects, or mutations, on two genes-TSC1 and TSC2. Only one of the genes needs to be affected for TSC to be present. The TSC1 gene, discovered in 1997, is on chromosome 9 and produces a protein called hamartin. The TSC2 gene, discovered in 1993, is on chromosome 16 and produces the protein tuberin. Scientists believe these proteins act in a complex as growth suppressors by inhibiting the activation of a master, evolutionarily conserved kinase called mTOR. Loss of regulation of mTOR occurs in cells lacking either hamartin or tuberin, and this leads to abnormal differentiation and development, and to the generation of enlarged cells, as are seen in TSC brain lesions. Diagnosis The diagnosis of TSC is based upon clinical criteria. In many cases the first clue to recognizing TSC is the presence of seizures or delayed development. In other cases, the first sign may be white patches on the Regional Autism Team. Differential Diagnosis information. August 2013. 1 skin (hypomelanotic macules) or the identification of cardiac tumor rhabdomyoma.. Diagnosis of the disorder is based on a careful clinical exam in combination with computed tomography (CT) or magnetic resonance imaging (MRI) of the brain, which may show tubers in the brain, and an ultrasound of the heart, liver, and kidneys, which may show tumors in those organs. Shared features with ASD. Social withdrawl, impaired social contact, stereotyped behaviours and abnormal speech. Treatment There is no cure for TSC, although treatment is available for a number of the symptoms. Rapamycin and related drugs are not yet approved by the U.S. Food and Drug Administration (FDA) for any purpose in individuals with TSC. The FDA has approved the drug everolimus (Afinitor®) to treat subependymal giant cell astrocytomas (SEGA brain tumors) and angiomyolipoma kidney tumors. Antiepileptic drugs such as vigabatrin may be used to control seizures and medications may be prescribed for behavior problems. Intervention programs, including special schooling and occupational therapy, may benefit individuals with special needs and developmental issues. Surgery, including dermabrasion and laser treatment, may be useful for treatment of skin lesions. Because TSC is a lifelong condition, individuals need to be regularly monitored by a doctor. Due to the many varied symptoms of TSC, care by a clinician experienced with the disorder is recommended. More information Tuberous Sclerosis Alliance. [email protected] Epilepsy foundation. National Institute of Neurological disorders and stroke http://www.ninds.nih.gov/disorders/tuberous_sclerosis/ Physical features and natural history: The natural course of TSC varies from individual to individual, with symptoms ranging from very mild to quite severe. In addition to the benign tumours that frequently occur in TSC, other common symptoms include: Seizures, Learning disability, Behavior problems, Skin abnormalities, Tumors can grow in nearly any organ, but they most commonly occur in the brain, kidneys, heart, lungs, and skin. Useful Research Papers Regional Autism Team. Differential Diagnosis information. August 2013. 2 Bolton, P., Higgins, R., Griffiths, P., Pickles, A. (2004.) Neuroepileptic determinants of autism spectrum disorders in tuberous sclerosis complex. Journal of Child Neurology 2004;19:675—679. Smalley, S. (1998). Journal of Autism and Developmental Disorders. Volume 28, Issue 5, pp 407-414 . . . Regional Autism Team. Differential Diagnosis information. August 2013. 3