Metabolic Screening

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. Though no proven theory states that metabolic disorders may be the cause of autism, it is still commonly present in childhood autism.

Metabolic disorders

An example of a metabolic disorder that autism is associated with is Phenylketonuria (PKU). Phenylketonuria is the abnormal presence of phenylacetone and other metabolites of phenylalanine in the urine. Phenylalanine is toxic to the brain tissue, therefore an accumulation of this is believed to be linked with autism. 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

433 image 15311509905307 Metabolic Screening

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  • 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;
  • Evidence of mental retardation or the lack of evidence to rule it out;
  • 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 needs parental consent before it can be done.  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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Being an RBT for me was extremely fun because where were you going to find a place where you can be completely silly without having to worry what people thought about you? This was the only job that made me feel like I could make a dramatic difference while being myself.

I also liked to be surrounded by people that had the same goals of wanting to help kids and the teamwork made the job much easier and more enjoyable.

Change and progress was the ultimate goal for our kiddos. The early intervention program was seriously only a miracle because I saw changes in the kiddos that from day one, you wouldn’t even recognize who they were.

Changes from being able to utter 3-4 words where they can only make a syllable from when they started, the behavior decreases in which kiddo that used to engage in 30-40 0 self-harm to only half, learning how to wait during games, table work where they use to swipe and drop to the floor if they had to.

My favorite was when the parents would tell us what amazing progress they were making at home. I used to tear up and felt for these parents so much because it was already difficult for them and now, they can trust and rely on ABA and the therapists knowing their goal was ours.

By Emma Rogers, BA, RBT

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