Fandom

Autism Wiki

Tuberous sclerosis

287pages on
this wiki
Add New Page
Talk0 Share
Tuberous Sclerosis Pezzoli

From a 1900 article by Dr C. Pezzoli (source)

Tuberous sclerosis (TSC) is a genetic disorder. Tumors may grow in brains and other vital organs like kidneys, heart, eyes, lungs, and skin. TSC has very strong association with Autism Spectrum Disorder and about 1-4% of autistic people experience Tuberous sclerosis.

These tumors are almost always not malignant.[1] They usually affect quality of life and an autistic person with TSC may experience seizures and intellectual disability.

Symptoms

Tuberous sclerosis is usually, but not always, detected in early childhood. Symptoms of TSC include...[2][3]

  • Seizures of all types, which may be difficult to control
  • Skin abnormalities (often patches on skin which may be light-colored, hard, or acne-resembling lesions)
  • Developmental delays
  • Behavior problems (hyperactivity, aggression, outbursts, withdrawal)
  • ADHD
  • Kidney problems
  • Harmless lesions on the retina of the eye
  • Coughing or shortness of breath due to lesions on the lungs
  • Kidney problems

A person with TSC will not necessarily display all of these symptoms.

Treatments

TSC cannot be cured, but it can be treated.[3][4]

People who experience seizures may benefit from anti-epileptic medications. Afinitor/Zortress may be used to treat certain lesions or tumors. A topical cream called sirolimus can treat some skin lesions. In extreme cases, medication may be used for behavioral issues.

Occupational therapy can help people adjust to daily life tasks, and speaking with a therapist may help with coping (for the person with TSC and/or their parents/caregivers). Children with TSC may benefit from extra academic support.

Surgery may be used if any lesions or tumors are causing complications. In some cases it can control seizures that do not respond to medication.

A person with TSC will need to be regularly monitored by a doctor to ensure that they are being treated well. While they are at increased risk for complications, they can often enjoy a normal life expectancy.

External links

  • Tuberous Sclerosis - a page from the site of National Neurological Disorders and Stroke (NNDS)

References

  1. Tuberous Sclerosis Alliance: What is TSC?
  2. Mayo Clinic: Tuberous sclerosis symptoms
  3. 3.0 3.1 NIH: Tuberous Sclerosis Fact Sheet
  4. Mayo Clinic: Tuberous sclerosis treatments and drugs
Wikipedia has an article related to:

Ad blocker interference detected!


Wikia is a free-to-use site that makes money from advertising. We have a modified experience for viewers using ad blockers

Wikia is not accessible if you’ve made further modifications. Remove the custom ad blocker rule(s) and the page will load as expected.