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Positive Advancements made in effective screening

By Danika Weaver

            For children with Autism Spectrum Disorder (ASD) learning and communicating is a lifelong struggle. Since the first diagnosis of autism in 1908, studies on ASD have steadily increased. However, only recently have there been breakthroughs in diagnosing.

How is Autism or ASD diagnosed?

            A study in the 1960’s concluded that autism was caused by “refrigerator mothers,” or mothers who did not show enough love to their child. Luckily, that was proven to be false. Although the exact cause isn’t known for sure, it is believed that a faulty gene–or genes–might make a person more likely to develop autism when other factors, such as a chemical imbalances or a lack of oxygen at birth, come into play. It wasn’t until the 1980’s that research on autism gained momentum. It was also increasingly accepted that parenting had no role in causing autism. All children are screened for autism between 16 and 30 months, but it is possible for diagnosis to be even earlier. As a parent, you know your child better than anyone else. It is important to know the early signs of autism, and if there are any doubts, let your doctor know.

            Why is early intervention important?

            Although it may seem as though time doesn’t make a difference, the sooner a child is diagnosed with ASD, the easier their life will be. Thanks to specialized learning, children are able to get a ‘head start’ during the crucial developmental stages in life. Because children’s brains are in the busiest stage of development within their first year of life, early intervention is key to assisting them in leading a better life in the future.

            Diagnosing ASD can be difficult because there is no medical test used to fully diagnose the disorders. Instead of using blood tests or MRI’s alone, doctors look at the child’s behavior and development to make a complete diagnosis. These evaluations include interviewing the parents, a hearing and vision screening, genetic testing, neurological testing, and other medical testing.

            A large advantage that people have nowadays is that there are questionnaires that allow parents to report on their child’s behavior. This makes it easier for parents to understand that some odd actions their children make are actually symptoms of autism spectrum disorder. The ASD scale questionnaire includes social interaction difficulties, speech and language delay, abnormal symbolic or imaginary play, and behavioral difficulties. From the assessment, parents receive a score for “level of dysfunction.” The higher this score is, the more likely it is that the child is on the autism spectrum.

            Although these questionnaires are convenient and advantageous, self-diagnosis is not recommended. If a parent is unsure of where their child stands on the spectrum, scheduling a visit to a pediatric doctor or psychologist is the next step.

            Really, only about 2% of a person’s DNA–the fragile X chromosome–is looked at in standard genetic testing. It was previously thought that the rest of the genome sequence was nothing but junk DNA. However, experts have discovered in a study conducted in 2013 that the other 98% of the sequence can be just as valuable as the X chromosome. In fact, four new autism-risk genes and eight suspected ones were identified, as well as the discovery of harmful de novo mutations in 15 of the 32 children studied. Mutations such as de novo have nothing to do with the genes of either parent, but form in germ cells (egg and sperm) during pre-birth development. Dr. Stephen Scherer, the head author of the study, has high hopes for what the study may have to offer.

 “The fact that we found notable genetic variants in half of the families reflects our new ability to apply genome sequencing to find those missed in other approaches,” said Scherer, who is also the director of the Centre for Applied Genomics at the Hospital for Sick Children in Toronto. “This could allow for earlier diagnosis and treatment, particularly among siblings of children with autism.”

            When a child tests positive on the autistic spectrum, it may shock parents who are now given the responsibility of raising a child with special needs. Since 2011, prenatal genetic test have been available in clinics. These tests are based off of blood tests from the pregnant mother. Pieces of fetal DNA naturally circulate in the mother’s blood; a fact scientists have known for years, but have only recently been able to base tests off of the fragments due to inadequate DNA analysis technology in the past.

Amazingly, there is enough fetal DNA in the mother’s blood to build a full genome sequence of a child before it is born, as a pair of studies showed in 2012. That means that the same results you would get from a prenatal genetic test (sometimes as early as the first trimester) could be reached after birth. Because of the low risk and ease of these procedures, prenatal genetic tests could soon become a standard part of every woman’s prenatal care. Routine prenatal genetic testing means that having a child with a genetic disease or disability would no longer be such a big a surprise for parents.

            Though the test can’t fully diagnose autism in an unborn child since genetics aren’t fully to blame, parents can be given a percentage of how likely it is that their child will be born with autism.

            A study done in 2008 screened infants who were born prematurely, specifically those with low birth rates. provided interesting results. Ninety-one ex-preterm infants that weighed less than 1,500 grams were studied. They underwent conventional MRI studies and were evaluated using the Modified Checklist for Autism in Toddlers, the Child Behavior Checklist, and the Vineland Adaptive Behavior Scale. At the end of the study, 26% of the 91 children (23 kids,) had a positive result on the autism screening tool. This result linked that a low weight at birth could be connected to autism.

            Screening for autism has continued to improve exponentially for decades. Because of the promoted importance of early intervention, the path to your child’s future becomes easier because it allows them to learn in a way that is special to them. In the end, studies on autism are done for one reason: to make the lives of those who are affected by it brighter.

Autism.com

Autismspeaks.org

Myasdf.org

Pediatrics.aappublications.org

 

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