Metabolic Screening

Metabolic Screening for children with autism is not a routine test, but it is suggested by some medical practitioners to aid in diagnosis. Metabolic screening is one of the several tests that exist in helping scientists and researchers discover what may cause autism. It is a specialized test that focuses on the inborn weakness of metabolism. These disorders are usually unnoticeable at birth and gradually develop as the child grows.

Research continues into what causes autism and what helps. Medical health practitioners are able to test children for metabolic disorders to identify several disorders that may be associated. Metabolic disorders do not cause autism in general, but a small minority of children with autism have an underlying metabolic condition, and finding it matters because some are treatable.

Metabolic disorders

An example of a metabolic disorder that autism is associated with is Phenylketonuria (PKU). In phenylketonuria (PKU) the body cannot break down phenylalanine; untreated, the build-up damages the brain and can produce autism-like features, which is one reason every newborn is screened for it.

Reasons for Metabolic Screening in children

• Presence of lethargy – tiredness;
• Cyclic vomiting – is a syndrome that presents recurrent vomiting and nausea. The presence of lethargy is also present;
• Early seizures;
• Presence of dysmorphic or coarse features – means a difference in body structure compared to typical;
• Evidence of intellectual disability;
• Questionable newborn screening;

Procedure for Metabolic Screening

Metabolic screening is usually done at birth as part of what is called Newborn Screening. According to the Center for Disease Control and Prevention (CDC), newborn screening tests for genetic, endocrine, metabolic disorders, and hearing loss prior to discharge from a hospital or birthing center. It is done by drawing a few drops of blood from the newborn’s heel. Newborn screening is routine in every US state.  In older children, a urine or blood sample is obtained and submitted for testing. One urine sample can test for hundreds of metabolic disorders. Health professionals that deal with genetic metabolic disorders and registered dietitians are usually the ones to consult regarding metabolic disorders.

Reference:

Health Discoveries. healthdiscoveries.net: Experts Re-Think Autism and Autism Treatments Leading to New Treatments that Work. Retrieved March 24, 2011, healthdiscoveries.net/autism-treatments.html

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