Customarily, an expert diagnostic team has the responsibility of thoroughly evaluating the child and determining a formal diagnosis. The team will then meet with the parents to explain the results of the evaluation.
The clinician may recommend the following tests after a diagnosis of autism has be made:
Formal audio logic evaluation. Various tests such as an audiogram and tympanogram can indicate whether a child has a hearing impairment. Audiologists (hearing specialists) have methods to test the hearing of any individual by measuring responses such as the turning of the head, blinking, or staring when a sound is presented.
Although some hearing loss can co-occur with autism, some children with autism may be incorrectly thought to have such a hearing loss. An additional confounding situation occurs when the child has suffered from an ear infection.
Lead screening. This screening is essential for children who remain in the oral-motor stage of development for a long period of time. During this stage, children put anything and everything into their mouths, a behavior called pica or “mouthing.”
Such children can ingest dangerous amounts of lead even in environments that are usually considered safe. According to several pediatric studies, children with behavioral and/or developmental problems are more likely to have significantly higher blood-lead concentrations than the general childhood population.
Lead, a known-and more importantly, treatable-neurotoxin, would further contribute to the impairment suffered by these children. As a result, experts at many health agencies including the
Genetic screening. A screen for fragile X syndrome is appropriate in autistic children. Fragile X syndrome, also known as Martin-Bell syndrome, is a sex-linked genetic abnormality and is the most common form of inherited learning disability and mental retardation.
Although not affecting the mother, the genetic defect is carried by her and can be transmitted to her children. It affects approximately 1 in every 1,000 to 2,000 male individuals and the female carrier frequency may be substantially higher. Males afflicted with this syndrome typically have a moderate to severe form of intellectual handicap. Females may also be affected but generally have a mild form of impairment.
Approximately 15 percent to 20 percent of those with fragile X syndrome exhibit autistic-type behaviors, such as poor eye contact, hand flapping or odd gesture movements, hand biting, and poor sensory skills. Behavior problems and speech/language delay are common features of fragile X syndrome. In addition, families are advised to seek genetic counseling to understand the inheritable nature of fragile X syndrome and to discuss with family members the likelihood that other individuals or future offspring may have this disorder.
The diagnosis of Rett syndrome should be considered in females with unexplained moderate to severe mental retardation. If clinically indicated, testing for the MECP2 gene deletion may be obtained.
Insufficient evidence exists to recommend testing of females with milder clinical phenotypes or males with moderate or severe developmental delay.
Electroencephalogram or EEG testing. This test should be conducted if a doctor suspects that a child’s unusual movements or stereotypic behaviors are the result of a seizure disorder or in children whose language and other skills have regressed.
Brain imaging tests (CT or MRI scan). These tests are rarely helpful toward the diagnosis of autism, but a neurologist might order these tests for some children to rule out other illnesses.
Family functioning evaluation. This evaluation is used to determine the parents’ level of understanding of their child’s condition in order to offer appropriate counseling and education. A parent educated in the complexities of autism is one of the most important assets an autistic child can have.
Most parents’ knowledge of autism is rudimentary. After they are told of their child’s diagnosis, their reaction is shock, followed by a period of anxiety and depression. This is not the optimal time for parent education. However, the child’s physician and other members of the treatment team should help to educate the parents on what they need to know to make the child’s and their lives happier and more satisfying. Parents should get recommendations on what further steps they should take for their child.
In addition, parents should be provided with the name or names of professionals who can be contacted if they have further questions. An autistic child can put great stress on a family. Guilt, fear, and depression are common feelings of the parents of newly diagnosed children.
It is sometimes helpful to have a professional to help the family recognize and develop coping strategies for these issues.
Terms:
Audiogram – The graphic record drawn from the results of hearing tests with an audiometer, which charts the threshold of hearing at various frequencies against sound intensity in decibels.
Tympanogram – The graphic record of a test of the flexibility of the eardrum. It is part of a standard hearing evaluation.
Pica – A perverted or inappropriate appetite for substances not fit as food. These nonfood items include substances that have no nutritional value, such as clay, dried paint chips, starch, or ice.
Approximately 15 percent to 20 percent of those with fragile X syndrome exhibit autistic-type behaviors, such as poor eye contact, hand flapping or odd gesture movements, hand biting, and poor sensory skills.
Seizure disorder – Includes any condition of the brain in which there are repeated seizures or convulsions.
MRI (magnetic resonance imaging) – A diagnostic tool that uses radiofrequency waves and a strong magnetic field rather than X-rays to provide remarkably clear and detailed pictures of internal organs and tissues.
