Genetic Testing

Genetic Testing

There is no known cure for autism spectrum disorder (ASD or autism). Perhaps this is because the origin as to what causes this disorder is still unknown. There are several claims as to what causes autism, but there are no scientifically proven claims, yet. Causes of some symptoms of autism, on the other hand, can be determined through a process called genetic testing.

Genetic testing is a medical test that can identify changes in chromosomes, genes, and proteins. It is done to confirm or rule out a certain condition or help determine a person’s chance of passing on or developing such a condition. A medical geneticist evaluates a genetic test.

Types of Genetic Testing

Gene tests

Gene testing is a test that examines a person’s Deoxyribonucleic Acid (DNA). DNA is a large double-stranded, helical molecule that is the carrier of genetic information. This test is conducted by getting a sample from a person’s blood or other body fluids such as saliva or tissues. It detects any structure abnormalities, quantity abnormalities, presence or absence of a gene.

Biochemical tests

Biochemical tests are often used for newborn screening wherein certain metabolic disorders such as Phenylketonuria (PKU) are determined. It is a test that basically looks at the amount of activity of key proteins.

Chromosomal tests

A chromosomal test is a test that examines a person’s chromosomes, which are large

DNA-containing structures in the heart of a cell are called nuclei. Changes, such as deletion of some chromosomal pieces and expansion or switching of chromosomal location, are determined during this test. There are 12 types of chromosomal tests:

Karyotyping – This is a test that takes a picture of all chromosomes of a person. It is designed to identify any changes in the chromosomal number and significant changes in DNA structure. An example of a disorder determined by karyotyping is down syndrome, wherein there is the presence of an extra copy of chromosome 21.

Fluorescent in situ hybridization or FISH analysis – This is a test that identifies small missing chromosomes or chromosomes that have extra copies.

An example of a disorder that FISH can determine is the velocardiofacial syndrome, wherein chromosome 22 is missing fragments.

Through genetic testing, it can be determined if any autism-related symptom, such as metabolic disorder that your child has, is due to a genetic disorder or has no known genetic cause. If a genetic disorder is determined, the possibility of having another pregnancy affected by a genetic disorder is more likely. For instance, phenylketonuria has a reoccurrence risk of 1:4 or 25%. In cases where no genetic cause is determined, there is still a slight increase in the possibility of having another child affected by autism, the range is 3–7%. One reason is linked to this is when several genes were passed on from both parents in addition to unknown environmental factors.

Reference:   http://www.nlm.nih.gov/medlineplus/ency/article/001526.htm/

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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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