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9. What are the causes of ASD?

The causes for ASD are most likely genetic. In most kids who present with a mild form of ASD, despite a very extensive workup that may include blood test, urine tests, imaging studies, and other tests, everything comes back normal. The general consensus is that ASD is a genetic disorder that sometimes can't be identified in current genetic testing. This may never become specifically identified because ASD may represent a variety of genetic abnormalities.

Identified causes for ASD include several chromosomal abnormalities involving different "genetic sites." Fragile-x syndrome involves the x chromosome, Angelman's syndrome involves chromosome 15, and many other chromosomal abnormalities may present with "ASD." Other disorders such as Touberouse sclerosis, a disorder causing skin and brain abnormalities and frequent severe epileptic seizures (chromosome 9 and 16) may present with "ASD" also. Some "metabolic disorders" such as PKU (phenylketonuria), where a substance (phenylalanine) accumulates in the brain, and other disorders of metabolism may present with ASD.

Another important condition that may cause ASD is a form of a seizure disorder or Laundau Kleffner syndrome. This disorder, also known as acquired epileptiform aphasia, is a disorder in which non convulsive seizures, which occur mainly at night, may “rob” a child from previously acquired speech. This is an important diagnosis, because some treatments may effectively help it.

Other topics in the Autism Spectrum Disorder (ASD) section:
ASD Main Page
1. What is ASD (Autism Spectrum Disorder)?
2. How is ASD diagnosed?
3. The DSMV V criteria for ASD
4. What is PDD and Asperger's disorder?
5. How does a typical child with ASD present?
6. The ASD assessment scale/screening questionnaire
7. Social (Pragmatic) Communication Disorder
8. Who should be evaluated for ASD?
9. What are the causes of ASD?
10. Laboratory testing guidelines
11. What is the best treatment for ASD?
12. Behavioral modification
13. Prognosis (long term outcome) of ASD
14. Differential diagnosis for ASD
15. ASD and the educational (school) system
16. Associations related to ASD
[Print entire ASD section]

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