Biomedical testing resources | Autism PDD
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Biomedical testing resources

I started a collection of biomedical testing resources.  If a link doesn't work, try removing any blank spaces in the address.  If it still doesn't work, let me know.

Tests available now: - list of biomedical tests sometimes ordered in connection with an autism evaluation.  Includes lab studies, imaging studies, genetic tests, and other tests. ?pagewanted=2&_r=2&ref=health  - New York Times article about DNA microarray analysis, which can test all known chromosomal disorders at once.  The old technology could only test one disorder at a time (for example Fragile X) and had a hard time detecting some deletions and duplications.  The new test is expensive at $3,000, but the article mentions that one major insurer in Utah has agreed to cover it.

Official neurologist guidelines for biomedical testing.

 - - Urinary peptide test for detecting problems digesting gluten and casein.  This is still considered experimental, so may not be covered by insurance, but some health care providers do the test (my son had the test at a hospital here in Norway). htm - "Medical Testing, Common Issues and Treatment Information" from TACA. .html - qEEG. - qEEG/brain mapping and autism. - SPECT brain scan. - What is LTM vEEG? - general info on MRI, which makes the point that the sensitivity is dependent on whether dyes are used and on the experience of the radiologist.

Promising research

A few articles about a technique which holds promise for the future -- using a special 3D camera to uncover unusual facial symmetry and diagnose various genetic disorders, including autism.  The camera is found almost exclusively in hospitals that do maxilofacial surgery.

magnetoencephalography - MEG (magnetoencephalography) is expected to have some clinical applications in a year or two, since this test can already identify 6 very different conditions with 90-100% accuracy within 40-60 seconds.  Research on identifying autism with this method is beginning.

Sample social stories: - 5 sample stories with pictures, made for older kids participating in research studies.  Includes one about a functional MRI. pdf - EEG, with photos. f.pdf - blood test, with photos. - two illustrated social stories with text and audio!  "Going to get blood drawn", "Going to the doctor" - slide show with kid-friendly pictures of going to the doctor.  If you click on the tab "download", you go to another area of the website where they have two slide shows, one on going to the doctor for an illness, and the other on going to the doctor for a check-up.  The website is kind of slow and seems to use a lot of memory, but I like their slide shows (have used the dentist one many times). - a children's guide to the hospital, featuring the PBS character of Arthur.  The guide is to Children's Hospital, Boston, but I'm sure it's useful for hospital stays in general. - games about bloodtests, iv's, asthma, etc.  Can probably be used to prepare some kids, depending on their level of functioning. gytestingvideo.htm - allergy testing video. lergy-tests1.pdf- allergy testing (with pictures)

Related topics on our forum:

Tips for health care professionals: utism-spectrum-disorders-information-for-health-professional s.aspx - This information sheet is aimed at all health professionals who may come into contact with an adult or child with autism for reasons other than their autism. Doctors, nurses, paramedics, dentists and opticians may find this useful. Much of the advice in this information sheet will also be of use to hospital staff who are caring for an in-patient with an autistic spectrum disorder. ism+... - brochure "Your Next Patient Has Autism" - Autism Toolkit for Health Care Professionals (see list of topics on the bottom of the screen),+Dentists,+EMT, +hospitals,+Firefighters+and+autism...?t=anon  - tips for doctors, EMT, hospitals and more. 8 - "Asperger Syndrome Presents Special Challenges for Nurses" - sample medical letter written by our member gtto, who has autism. - "Strategies for going to the doctor" - "Autism 101" for EMS personnel t_Ease.pdf  - tips for paramedics - "Autism Physician Handbook" which gives good tips for optimizing office visits (p. 29-33), info on GI problems, and an illustrated and comprehensive list of behavioral symptoms. - ALARM:  Autism is prevalent, listen to parents, act early, refer, monitor. - materials for health personnel, from CDC's "Learn the Signs, Act Early" campaign. - Caring for adults with autism.

Anesthesia - "Surgical anesthesia and autism" by Louise Kirz, an anesthesiologist who also has two children with autism. - "Anesthesia and the autistic child" by Sym C. Rankin, an anesthetist who has also a child with autism.

Related topics on our forum.

tips on giving medicine

Tips on teaching to cover their cough

Pain resources

Resources on physical characteristics

Primitive reflexes and neurological "soft signs"

Any resources to add?


NorwayMom40758.0569560185Well that stinks it's only in utah!Does insurance pay for the testing?Here's an article on chromosomal microarray analysis (CMA).  According to research it only picks up copies and deletions in 7% of those diagnosed with autism.  Less than I expected. or-autism-more-effective/

The article is kind of negative about karyotype testing and Fragile X testing, but I think you would get very different results if the study involved a large group of people showing autistic symptoms (which would include people with Fragile X), not people who had been diagnosed with autism (which would normally rule out Fragile X, since the test is widely used).  

My eldest son's MRI came back as "normal" but I was never really understood  what they could have found.  I finally found an answer today:

Abnormal results may be due to:


PeriVentricular Leukomalacia is another possibility, sometimes seen in those who were born premature.

Here's a new book on the genetics of autism.  "Over 80 genetic conditions have now been reported in people who have also been diagnosed with ASDs." =Aitken_AZ-Genetic-Factors-Pro_Dec10_NUC&utm_medium=Emai l&utm_source=CM_jessica-kingsley-publishers&utm_cont ent=Aitken_AZ-Genetic-Factors-Pro_Dec10_NUC


The American Academy of Child and Adolescent Psychiatry has a lot of resources on medications.  Here's the main link: ric_medications

Here's some of the items listed there:

Parent Guides for Understanding Treatment

Facts for Families

Thanks a lot. The resources are really good, and seem to be working well. they will be very helpful.

I added this to the list today.  A video that shows what allergy testing involves. gytestingvideo.htm

Here in Norway they recommend doing the following in the medical part of the autism evaluation (the more severe the autism, the more tests they run).

  • health check - height, weight, head circumference, hearing, vision, organs.
  • Neurological check - physical abnormalities, skin abnormalities, gross and fine motor, coordination, reflexes and soft signs (see also the thread called Primitive Reflexes, linked above).
  • Blood tests - iron, liver, thyroid, allergy, immunology
  • Celiac screening
  • Genetic testing for Fragile X and DiGeorge (22q11)
  • metabolic screening of the urine (looking for amino acids and organic acids that could indicate a metabolic condition).
  • EEG
  • Gather info on gastrointestinal problems, toileting habits, food issues, etc.
  • Gather info on sleeping habits, past and present
  • Gather info on physical health issues
  • Evaluate various milestones plus ability to concentrate and have joint attention
  • Gather info on mental health issues

They also recommend some additional tests if clinically warranted (for example regression, significant retardation, suspected syndromes):

  • more genetic testing, for example Rett syndrom and Angelman
  • complete vision testing
  • brain MRI, and while anesthetized analyze spinal fluid and examine the retina
  • additional metabolic screening
  • Wood's lamp to rule out tuberous sclerosis's_lamp
  • physical therapist evaluation of gross and fine motor skills


NorwayMom40387.0310532407I thought I had a topic for epilepsy/seizure resources, but I don't.  So I thought I'd post this here.  It was a touching blog about a girl (who doesn't have autism) learning about her seizure disorder.  It contains good info on absence seizures and food for thought about sharing a diagnosis with a child.

Book - "Prescription for success:  Supporting children with autism spectrum disorders in the medical environment." -success-supporting-children-with-autism-spectrum-disorders- in-the-medical-environment 

"Taking the work out of bloodwork", a comprehensive guide by Autism Speaks. m-treatment-network/tools-you-can-use/blood-draw-toolkits