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.

Studies are continuously being made all aiming to discover what causes autism and, most importantly, what can cure or prevent it. Medical health practitioners are able to test children for metabolic disorders to identify several disorders that may be associated. Metabolic disorders are found in only a small minority of autistic children, but finding one matters, because some can be treated.

Metabolic disorders

An example of a metabolic disorder that autism is associated with is Phenylketonuria (PKU). In PKU the body cannot break down phenylalanine, an amino acid in food. Untreated, it builds up and damages the brain, and some untreated children show autistic features. Newborn screening finds PKU at birth, and a special diet started early prevents this damage. These metabolic disorders are somehow associated with how a child with autism behaves and deals with people and his or her surroundings.

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 when compared to the normal anatomical body;
• Intellectual disability, or a loss of skills the child once had;
• 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 Centers 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 required by law in most US states, though most states let parents decline it. In older children, a urine or blood sample is obtained and submitted for testing. Depending on the tests ordered, one sample can screen for many 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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