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Autism 101: Definition, Diagnoses, and Treatments

by Melissa Jones M.D., Pediatric Neurology


Musical composers Beethoven and Mozart, acclaimed writers Hans Christian Andersen and Emily Dickinson, notable scientists Albert Einstein and Isaac Newton, and US President Thomas Jefferson all have something in common.  Some people believe these iconic figures of yesterday would be diagnosed with an Autism Spectrum Disorder (ASD) today.

The American Academy of Pediatrics defines Autism Spectrum Disorder as a group of related developmental disabilities that affect a child’s behavior and social and communication skills.

On one end of the spectrum is Asperger’s Syndrome, characterized by social delays without speech issues. On the other end is severe autism. These children are completely non-verbal and display odd behaviors such as hand flapping, rocking, head banging and poor eye contact.

The majority of children diagnosed with ASD fall in the middle—the mild to moderate range of autism.

ASD is more common in males than females, with an estimated one in 70 boys being diagnosed. Symptoms begin within the first three years of life.

The number of diagnoses continues to increase. It is unknown if this is due to a true increase or more prevalent and accurate screening and testing.

The first step is a series of tests that assess behavior, communication, and social skills. Once autism is confirmed, children can undergo genetic and metabolic testing. As genetic testing becomes more advanced, more causes of autism are being found. Up to 40 percent of the time, a genetic or metabolic test will show a potential cause for the child’s autism. A blood draw for genome sequencing is also available and can shed light on possible causes.

Seizures are more common in children with autism. In fact, 30 percent of children with autism have epilepsy, which is why an EEG is another test that may be needed in a child with an ASD. Epilepsy is a neurological disorder, but there are other behavioral disorders that are also more common in children with autism, including ADHD, OCD (Obsessive Compulsive Disorder), anxiety and depression.

The cause of autism is not known, but most experts now agree that it begins in utero before birth. In most cases, it remains dormant until something triggers it, perhaps an illness or immunization.

That is not to say vaccines cause autism. Numerous studies on the correlation between autism and the MMR vaccine have shown there is no association. In fact, a much-hyped study released in 1998 by a British doctor who claimed there was a link was officially retracted in 2011. Authorities called it an “elaborate fraud” and stripped the doctor of his medical license.

The reason MMR came under scrutiny is because of timing. MMR vaccines happen to be administered around the same time the first signs of autism appear.

While we don’t know of a cure for autism, we do know some ways to treat it. Applied Behavior Analysis, or ABA, is one of the few treatments shown to dramatically improve symptoms. It’s a scientifically-validated method that involves a specific approach to behavior modification.

Some parents insist their children improve with dietary changes—most notably a gluten-free, casein-free diet. Why some children respond is unclear, but it may be due to an underlying metabolic disorder or seizures. I don’t recommend trying it until testing is complete.

Most of the time, it’s parents who raise the red flag when autism is suspected, but physicians should also screen for it during well-child checkups. This is very important, because the sooner an Autism Spectrum Disorder is confirmed, the sooner intensive therapy can begin.

If you are at all concerned about autism, don’t ignore it and don’t be afraid to voice these concerns to your pediatrician. Early diagnosis and early intervention is critical in helping children reach their full potential.

 

The ABC’s of ASD testing:

• M-CHAT: The Checklist for Autism in Toddlers evaluates infants who are 16 to 30 months old. It identifies mild symptoms.

• CARS: The Childhood Autism Rating Scale helps differentiate autism from other developmental delays.

• ADOS: The Autism Diagnostic Observation Schedule evaluates all ages and is considered the “gold standard” of assessments.

• MRI: Magnetic Resonance Imaging evaluates brain structure.

• EEG: Electroencephalogram checks for seizure activity.

 

ASD Broken Down:

Communication:
• cannot start or maintain conversation
• communicates with gestures instead of words
• repeats words or memorized passages

Social:
• does not play interactive games
• avoids eye contact
• displays lack of empathy

Sensory:
• may find normal noises painful, hold hands over ears
• withdraws from physical contact
• rubs surfaces or licks objects

Play:
• doesn’t imitate actions of others
• prefers solitary or ritualistic play

 Behaviors:
• intense tantrums
• short attention span
• narrow interests

*source: U.S. National Library of Medicine/National Institutes of Heal

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