A research breakthrough in the Upstate could result in quicker and more accurate diagnoses of persons with autism spectrum disorders (ASD). In a study published in the online journal “Molecular Autism,” researchers at the Greenwood Genetic Center found that people with ASD showed a significantly decreased metabolism of the amino acid tryptophan than the cells of those in control groups or with other neurodevelopmental disorders. GSC’s Director of Research Dr. Charles Schwartz says this discovery could lead to testing for an earlier diagnoses of ASD.“This test that we are trying to develop will be able we would hope to distinguish a patient at a high risk for having ASD or having ASD from another patient that has a neurodevelopmental disorder problem, but not ASD,” Schwartz says.
Persons with autism and autism spectrum disorder usually have difficulties with social interaction, verbal and nonverbal communications, and repetitive behaviors. Autism and symptoms of autism tend to emerge between 12 and 18 months of age.
Schwartz says the test would be used to evaluate behavioral problems that may be associated with having ASD. Schwartz says such a test should not be confused with a diagnostic screening.
“It’s different from a parent, for example, who has a child who is two years old and, for whatever reason, wants to know if that child has a risk of having ASD even though the child appears normal.”
Schwartz says earlier and more accurate diagnoses of ASD would lead to earlier interventions and treatment strategies for both people with ASD and those who have been misdiagnosed with ASD but have another neurodevelopmental disorder.
Schwartz says”If the patient really doesn’t have a high risk for ASD or doesn’t have ASD, but someone assumes they do, and they institute an intervention based on that, the intervention will likely not work. It would be frustrating to the family.”
Currently there are no laboratory tests than can accurately diagnose ASD and the GGC researchers believe development of an early blood screening and a diagnostic blood test for autism would be of tremendous value to patients and their families.
Current diagnosis of ASD involves a developmental evaluation and parent interviews. That process can often not be made until the child is three or four years old.
Schwartz says some persons may recognize that the amino acid tryptophan and its association with turkey. Turkey contains a significant amount of tryptophan and it is a natural sedative, however Schwartz says we should not jump to any conclusions of associating any dietary factors to ASD.
“Probably not all patients will react the same, just like not all individuals who eat turkey, go to the couch on Thanksgiving and fall asleep; there are still people who eat turkey dinner and are able to go out and do other things.”
GGC researchers collaborated with Biolog, Inc. in California in the development of the report.