Parents of children with ASD are often interested to know which medical tests their child should have.
Evidence suggests that individuals with autism and learning disability should have genetic tests to identify chromosomal abnormalities and fragile X syndrome, both of which may be associated with autism.
Children with clinical features (symptoms or examination findings) associated with other conditions associated with autism (for example Tuberous sclerosis) should have testing for that particular condition.
Some children with autism or other ASDs have additional medical disorders, such as epilepsy. When clinical symptoms or examination findings indicate that another medical disorder might be present, appropriate investigations should be carried out.
Children with ASD sometimes have symptoms which, despite appropriate testing, remain unexplained. For these children, additional testing is unlikely to be of benefit and a pragmatic decision about when to stop carrying out tests should be reached between the clinician and the parents.
For children with autism or other ASDs, but no symptoms or examination findings suggesting another disorder, UK and US national guidance does not suggest further biomedical testing. (Reference: National Autism Plan, SIGN guidance and guidance from the American Academy of Pediatrics.)
In the UK, the NICE guidance of 2011 gives further evidence-based guidance on this topic. (Reference: Autism diagnosis in children and young people: Recognition, referral and diagnosis of children and young people on the autism spectrum)
A more detailed explanation on the types of physical examination and medical investigations currently recommended and those not recommended is contained in the National Autism Plan for Children NAPC (2003).