Pediatricians have many screening tools to detect ASDs in young children. Most
of these tools rely on associated language, cognitive and social delays as well as specific behavior patterns. These screens often do not differentiate children with ASDs from those with other developmental disabilities especially in children younger than 18 months of age. In addition, screening tools are good at screening but tend to be over inclusive. They do not separate out children who have developmental and behavioral disorders from those with ASDs.
Another concern is parent observation. Most of the screening tools rely on parent reporting based on parent observations. Such parent report based tools are brief, practical, inexpensive and are easily administered in the office setting. They do rely on parent observation but this has the benefit of those who have spent the greatest amount of time with the child reporting on the skills and patterns they have observed over an extended period of time.
Screening tools are a fundamental component of a medical home office practice. In a medical home developmental surveillance is provided over an extended period and screening tools are administered to supplement physician observation and developmental history. Such tools are designed to identify children who are at risk of an ASD from the general population. If issues are identified then the child is referred to an Early Intervention Program, a child neurologist, a developmental pediatrician, a psychiatrist, a child psychologist or a developmental clinic for more concise developmental assessments that require more time and training to administer. No matter who evaluates the child the examiner must have appropriate training and expertise. Additional evaluations from an audiologist, a speech-language pathologist and a school psychologist can aid in the evaluation and diagnosis.
Depending on the findings of the developmental assessment specialized screening may be pursued to evaluate genetic or structural central nervous system abnormalities if concerns about an underlying genetic or neurological disorder are present. The greater the intellectual disability the more likely an underlying genetic or neurological disorder will be identified. High resolution genetic testing including high-resolution chromosome analysis by G-banding and molecular testing for fragile X syndrome may be pursued. An EEG should be obtained if their are concerns about episodes of altered level of consciousness, staring spells, seizures or documented language regression in a child over 12 to 24 months of age. For children 12-24 months of age in whom language regression is often seen EEG testing is rarely helpful.