Numerous medical tests and evaluations can be performed on a child with abnormal
development patterns. As the parent you must ask the right questions in order to determine which tests are necessary. Most of the tests are performed to look for a cause of the developmental delay or atypical developmental patterns. Other reasons include excluding treatable conditions and identifying associated so called co morbid conditions. Rarely are tests needed to provide baseline information before treatment is initiated. It is important, however, for all necessary medical evaluations to be performed. Never assume a medical condition is simply due to the ASD.
Less than 10% of children diagnosed as having an ASD have an identifiable cause such as Fragile X Syndrome, tuberous sclerosis, metabolic disorders or Rett Disorder. Testing for these disorders should be based on history and clinical exam. Special attention should be given to the neurological exam and any dysmorphic physical features. There is no evidence children with ASDs have a primary immune disorder.
Neuroimaging studies and extensive metabolic testing are rarely required. Generally, motor or vocal tics, stereotypies (hand flapping) and clumsiness do not need specific
testing. By observation vision and hearing problems are difficult to recognize and actual vision and hearing testing are often difficult to perform in a child with an ASD. Consequently, this testing should always be considered and be performed by a professional familiar and comfortable testing children with an ASD diagnosis.
Children with autism spectrum disorders (ASDs) and children with learning disabilities have higher rates of epilepsy, vision impairment and hearing impairment than other children. If your child has regression of language after age 3 years an EEG is needed to assess for seizure activity being the cause of language regression. If there are episodes of staring off and your child does not respond to your voice or touch then an EEG will be considered. It is important to determine whether your child is avoiding eye contact and over focused on some stimuli in the environment. If that is the case then an EEG is not needed.
Children with ASDs have increased rates of mental health problems including attention, depression and anxiety. Psychiatry or psychology evaluations are needed if the complaints are causing social, emotional, educational or physical dysfunction.
Other common medical issues include unrecognized esophageal reflux (GER), sleep
disturbances and constipation. Although there is a prominent history of selective food intake there is not an associated allergy or food sensitivity risk. Sleep issues can be extremely disruptive to families, siblings and parents. Issues with falling asleep (sleep latency) and staying asleep (interval waking) must be carefully addressed. Melatonin or clonidine are often very helpful when combined with sleep cuing and behavioral strategies.
The key is for you to collaborate with your pediatrician and developmental specialist to
obtain a detailed historical assessment and look for any associated co-morbid problems. Testing should never be performed in a rote fashion. Every child is different.