A 30-year-old member asked:
helping my sons pediatrician help me. son diagnosed with autism. no blood work to rule out anything else. what tests should he order?
3 doctor answers
Dr. Johanna Fricke answered
49 years experience Developmental and Behavioral Pediatrics
Current standards : For genetic testing in a child with autism include comparative genomic hybridization & dna probe for fragile x. If there are physical findings like unusual facial features or hyper- or hypo-pigmented areas of skin (seen with a wood's light), there may be more specific tests. The need for an MRI of the brain is determined by head growth (birth-present) & specific findings on neurological exam.
Answered on Jun 10, 2014
Dr. Gregory Mosolf answered
24 years experience Pediatrics
Other tests: Other tests you might want to ask about include an eeg (brain wave test), chromosome test (karyotype), specific microdeletion tests such as williams syndrome and prader willi syndrome. I agree with the fragile x test. There are many other tests which may or may not be helpful. Many of these tests would fall under the category of alternative medicine or experimental.
Answered on Jan 10, 2013
Dr. Julius Sherwinter answered
47 years experience Pediatrics
Autism work up: The current complete evaluation of a child with autism includes a thourough physical exam (including a wood's lamp exam for hypopigmented lesions of tuberous sclerosis), hearing test, chromosomal microarray, cbc, and ferritin. In cses where there is clinical deterioration, add mecp 2 (to r/o rett's disease).
Answered on Nov 6, 2015
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