Fragile-site mental retardation 1 gene (FMR1) DNA testing for fragile X syndrome
High-resolution cytogenetic studies with fluorescence in situ hybridization (FISH) testing for 15q duplication
If the history or physical findings suggest additional concerns
High-resolution cytogenic studies with FISH testing for Prader-Willi, Angelman, and Williams syndromes
Creatine phosphokinase measurement - To rule out muscular dystrophy
Determination of lead level - To rule out lead poisoning
Urine organic acid test
Plasma amino acid test
Lactate and/or pyruvate test - To rule out mitochondrial disorders
Serum ammonia test - To rule out urea cycle defects
Test for very long fatty acids - To rule out peroxisomal disorders
Test of thyroid-stimulating hormone - To rule out hypothyroidism
Imaging Studies:
Brain MRI and not head CT may be helpful in the clinical assessment of global developmental delay, as the Practice Committee of the Child Neurology Society outlined in 2003.
Functional MRI, magnetic resonance spectroscopy (MRS), positron emission-tomography (PET) and single photon CT (SPECT) remain research tools. MRS is growing in promise as a tool in screening for conditions such as a deficiency in the creatine transporter gene.
Other Tests:
Electroencephalography
Results are abnormal in 25% of children with autism.
Results are abnormal in 100% of children with Rett syndrome.
Results can be diagnostic for children with Landau-Kleffner syndrome because seizure activity in the brain speech centers often causes this rare disorder.
Hearing test
Psychological and neuropsychological testing
In older children, testing may help distinguish PDD NOS from a mood disorder, early presentation of schizophrenia, or schizotypal personality disorder.
Testing may reveal verbal and nonverbal learning disabilities.
Hi all,
When I ask my son's ped if he would test him for heavy metals he said,
"Sure we have tested him for everything else. Let me know what
you want to run and when and we will do it". In Feb when he had
the brain infection and seizures they tested him with EEGs,
MRI's, Spinal Taps, Lymes,and a few others. He was also seen by a
geneticist and she did some metabolic testing, Fragile X, Chromosone
15, FISH, Angelman and Keffler syndrome. All of which I am very
happy to say came back negative and wants to see him for a follow-up in
March.
So now the question is which blood tests should I ask him to run?
Thank you in advance for your help. I don't post very often but I read everyday. All of you are very inspiring.
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