Early diagnosis and ASD

By Kiersten Miller

When autism is detected early in children, the likelihood of them being more functional adults increases. Autism is a spectrum disorder, and this causes difficulty in diagnosing the disorder because of the range of severity that makes every case different. Most doctors have to rely on a child’s behavior and development to accurately diagnosis them as autistic. The reason many children have late diagnoses is because when parents present their concerns, the doctor writes the matter off as the child being a “late bloomer”. This is not to say that the doctors are at fault, but that autism awareness is important for early diagnosis. Parents may be the first to realize behaviors that are unusual in their child. The early signs of autism include lack of joyful expressions by six months, no sharing of sounds by nine months, no babbling by twelve months, no words by sixteen months, and any decrease in speech or social skills throughout development. They also have unusual behavior like failure to make eye contact, failure to respond to their name, or playing with toys in repetitive ways.

Parents have available to them a simple online questionnaire called the M-CHAT (Modified Checklist for Autism in Toddlers). This testing can determine if their child needs screening that is more professional.  Most children are diagnosed around the age of two, because their behavior is more easily analyzed by this age rather than at younger ages. Doctors can have a clue the child has autism even before the child is eighteen months old, but the diagnosis is not considered reliable until the child is older. Most times children are older than two when their diagnosis is confirmed, which delays their treatment plans. Some children develop autism in their early years that were not born with it due to exposure to sodium valproate, traumatic brain injury, cerebrovascular lesions and brain infections.  The first step in diagnosis is a developmental screening. This test evaluates the child’s level of learning and compares it to other children of the same age. The doctor analyzes the child’s behavior, their ability to speak, learn and move. The test is interactive with the child and parents to see how the child interacts with others. This test is normally completed at regular well-child doctor visits three times before the age of two and a half. Children at higher risk of having autism due to preterm birth, low birth weight, family history of autism, and their prenatal environmental factors are monitored more carefully. Intrauterine congenital central nervous system infections in the womb also increase the chance of a child being born with autism.

If a doctor sees an issue with the development screening, a comprehensive diagnostic evaluation is recommended. This evaluation is a more in-depth test. The child’s behavior and development will be analyzed again, but also the parents will be interviewed on how the child acts in different situations. The screening will additionally examine hearing and vision, analyze genetic background, and conclude neurological testing. There is not a medical test, like a blood test, that diagnoses autism. Karyotyping, a process in which chromosomes are analyzed for mutations, can give big clues for a final diagnosis of autism. Studies have shown that a deletion of the q11 section of chromosome 22 can cause this neurodevelopmental disorder. Genetic testing can also reveal the signs of Angelman syndrome, which is another natural cause of autism. These genetic problems are also associated with other phenotypic disorders. Although these genetic mutations have a direct link to autism, most autism cases are caused by certain other etiological factors.   General medical doctors or pediatricians complete both the developmental screening and the comprehensive diagnostic evaluation. If one of these doctors notices that a child has early signs of autism, they will refer the patient and their family to a specialist in development, neurological studies, or psychology.

The DSM-5 categorizes autism by “persistent deficits” in social skills, repetitive behaviors, and other symptoms that effect important areas in normal function and activities. There are three levels of severity that the DSM-5 has established. Level three is the most severe of all the levels. Patients diagnosed in this category need considerable support and have little to no verbal or nonverbal communication skills. They have extreme difficulty adapting to change and have little ability to focus. Level two patients require less therapy and are more easily handled. They have limited social interactions and like level three patients are inflexible with change. Furthermore, level one patients have more social interactions with others, but they have a difficulty initiating these interactions. They have difficulty switching from one activity to another without proper methods. Along with diagnosing a child properly, the timing is crucial. Early diagnosis can help families dealing with their child’s behavior and help them better understand why their child acts the way they do. Children’s brains are more adaptable when they are younger compared to older children. This means that if a child receives treatment at this time in their childhood their brain can change and the functions that are defected can be rerouted to other parts of the brain. The brain compromises for the faulty neural pathways.

Early intervention can make a difference in their future, because it has a correlation to whether they are placed in conventional high schools rather than special education classes. In milder cases, early therapy can help the child better relate to others and aid them in feeling less separated from other children. When a child receives early therapy, the parents learn how to prompt responses from the child; this, in turn, helps the children all through life, learning those early interactions with others. Catching autism early allows for therapies that can mold the brain in those formative years to increase their neurological pathways that allow for social interactions later in their life.


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