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Autism Clinic
The Diagnostic Evaluation
Proper evaluation and diagnosis is especially important to the treatment of individuals
with autism. Although autism is a defined behavioral syndrome, it is not a disease with a
single cause, and in many cases a specific cause may remain unknown. However, for an
increasing number of children, careful evaluation can uncover sources including Fragile X
Syndrome, Tuberous Sclerosis, Phenylketonuria, Congenital Rubella, CMV, or a variety of
other chromosomal, structural, and metabolic diseases. Establishing one of these diagnoses
allows the center’s team to make specific therapy recommendations. If it is not
possible to establish one of these causes, the team assesses strengths and weaknesses of
autistic patients and determine the presence of other neurologic symptoms requiring
medical attention such as attention deficits, mental deficiencies, and seizures.
The First Visit
The center’s nurse coordinator serves as the first contact for the center by
conducting a telephone visit with each family and arranging the initial medical
evaluation. Before the first visit to the center, families receive an information packet
describing the evaluation procedure and requesting completion of medical and family
history forms. When the family arrives at the center for the evaluation, they first meet
with the nurse coordinator to review the medical and family history. Each family then
meets with a physician, who will examine the patient’s medical history and perform
medical, neurologic, and dysmorphology examinations. Following the examinations, the
physician and nurse discuss their concerns and questions with the family and outline
recommendations for other tests or evaluations. Some tests such as blood and urine tests
or X-rays may be performed during the first visit, but other tests and evaluations with
neurologists, psychologists, etc. may be scheduled at a later date convenient for the
family.
The Second Visit
After the results of the initial tests and evaluations are complete, a second visit is
scheduled. During this visit, the family provides any additional information they have
collected, and the physician will review each of the medical tests and related evaluations
conducted since the first visit. This information is then used to determine if the
specific source of the autistic behavior can be defined. Based on that information, the
physician will discuss medical and treatment options. At this time, the center will send a
report of the results relevant to the patient’s case to the family’s
pediatrician or family physician.
For some families, the center will function primarily as a
diagnostic clinic, where the child and family visit the center two or three times, then
continue their medical care with their pediatrician, neurologist, child psychiatrist or
other physician. For other children, the center will continue to follow the child through
regular appointments. In all cases, the child will continue to receive primary care from
the family’s doctor.
Commonly recommended evaluations and diagnostic
tests
Although there are no specific treatments or drugs that are successful for all individuals
with autism, the center staff feels that many will respond to individualized treatment
plans. The center’s physicians review previous evaluations performed elsewhere and
use medical and family histories to choose tests specifically for the patient from the
following evaluations:
- Psychological testing
- Speech/language evaluation
- Neurologic evaluation
- Nutritional evaluation
- Genetic counseling
- Occupational therapy
- Learning evaluation
- Opthalmology evaluation
- Audiology evaluation
- Child Psychiatry evaluation
- Chromosome tests for karyotype designation
- DNA tests for Fragile X
- CT or MRI scan of the brain
- Metabolic profiles of blood and urine
- Electroencephalogram
- Brain stem audio-evoked response
- Cardiology evaluation
- Genetic skeletal panel
- Thyroid panel
- Lead level
Autism
Center
University of Missouri Health Care
Children's Hospital
One Hospital Drive
Columbia, MO 65212
573-884-1871 |