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Jessica Osborne

on 5 November 2014

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Transcript of Autism

Autism Spectrum

What is Autism?
"...a variable developmental disorder that appears by age three and is characterized by impairment of the ability to form normal social relationships, by impairment of the ability to communicate with others, and by stereotyped behavior patterns."
- Merriam-Webster Online Dictionary.
social interactions and relationships
verbal or nonverbal communication
limited interest in activities
other medical problems
MMR vaccine hypothesis
The cause of autism is unknown, but one thing that is agreed on by experts and parents alike is that early recognition helps and is very important.
* There is no "typical" person with autism. People diagnosed with the disease have different types of symptoms, ranging from mild to severe. Some people may have a certain symptom while another doesn't have that at all.
Autism affects 1 in 88 children
It affects 1 in 54 boys
Eugen Bleuler first termed autism, but he applied it to schizophrenia
In 1943, Leo Kanner redefined the term to create the modern understanding of the disorder
From 1993-2003, the US Department of Education reported a 657% increase in the rate of autism
--> researchers debate on whether the autism rates are really increasing that much, or if broadening definitions allow more people to be diagnosed
About 67 million people worldwide are affected by autism
In one year, more children will be diagnosed with autism than with AIDS, diabetes and cancer combined
There is no blood test, scan, or image that can detect autism. It's diagnosed based on observation and screening alone
Autism costs the nation $137 billion per year
Children aren't diagnosed with autism until they are 3-5 years old, but symptoms can be noticed at 18 months or earlier
Behavioral Assessments
medical history --> child's development (speech, motor skills, social interactions, pointing, etc).
diagnostic guideline for autism.
behavioral questionnaire --> about the child's development levels, used to pinpoint abnormalities.
developmental and intelligence tests
Physical Assessments
physical exam --> head circumference, weight, height, used to see if the child has a regular growth pattern.
hearing test, sight test --> to see if hearing/sight deficiencies are causing developmental problems.
test for lead poisoning.
Other Tests
chromosomal analysis --> if there is a family history of intellectual disability, could be confused with another disorder (like fragile X syndrome, for example).
electroencephalograph (EEG) --> symptoms of seizures.
MRI --> to see if there are differences in the structures of the brain.
Early Recognition
In January, BBC News posted an article about how a study revealed that autism may be able to be detected in children much younger than those that are typically diagnosed with the disease at the time.

Currently, children are diagnosed with Autism Spectrum Disorder (ASD) at the average age of 5. If the signs of autism were noticed earlier than that, early intervention could take place and help change the child's behavior at an earlier age than usual.
The study had 104 children between six and ten months old. The children had sensors attached to their scalps to look for differences in their brain activity and their brainwaves.
The results concluded that there was a large difference between the brainwaves of the low-risk babies and those of the high-risk babies.
One thing to keep in mind is that it's not a 100% predictor.
Some of the babies that showed red flags and were high-risk didn't end up developing autism, and vice versa.
Although this method isn't perfect, it's bringing researchers one step closer to early recognition and treating the children at an earlier age.
Another popular study with early recognition is to look at and scrutinize videos of children on their first birthdays. Oftentimes, parents notice that their child is different than normal babies at around 18 months. They see developmental delays, when their children don't reach milestones that normal babies reach by a certain age. Although the parents express their worries to their doctor, no initiative is typically taken.
The information gained through these home video studies was to be used to aid in the identification of young children with autism in the hopes that diagnoses can be made earlier and more accurately. The many behaviors of children with autism must be compared to those of normally developed children. To perfect the process and make it better, the age at which behaviors change and the studies take place must be set as well as the types of behaviors that are seen to be different with autistic children and normal children at certain ages.
Professionals in autism see that one in five parents said that their child developed normally, and then lost their skills, delayed in development, and acquired autistic symptoms around the age of 18 months.
What is it?
What does it mean?
Why is it good?
Early recognition of autism is when children get diagnosed at an earlier age.
Typically, the diagnosis is done at the age of 5, but symptoms are recognized before the babies are one, in some cases.
It means that the children are studied by professionals that look for specific signs of autism in the babies.
Currently, the studies aren't 100% correct, but with more research and time devoted to them, they get more accurate year after year.
When a child is diagnosed with autism, they go into therapy to try to change and fix their behaviors. It doesn't automatically make the symptoms of autism go away, but it is effective.
Starting this therapy earlier could only help fix the behaviors of babies and alleviate the symptoms so they're not as serious.
The first of these tests was done by Massie and Rosenthal in 1975.
Massie also conducted a few other studies in 1975, 77, and 78.
Losche study in 1990.

The results of these tests showed that although they gave some insight to early recognition, nothing was "perfect" quite yet. These tests had a lot of flaws that needed to be worked out until they could be completely reliable.
Warning Signs
2 months:
social/emotional --> smiling, briefly calming themselves, trying to look at parents.
communication --> cooing, gurgling sounds, turns head toward sounds.
cognitive --> (learning, thinking, problem solving, etc) pays attention to faces, follows things with eyes, recognizes people at a distance.
movement --> can hold head up, pushes up when lying on stomach, smoother movements with arms and legs.
4 months:
social/emotional --> smiles spontaneously (esp. at people), plays with people, copies some facial expressions and movements.
communication --> babbles, cries in different ways (to show hunger, pain, being tired).
cognitive --> let's you know if they're happy/sad, responds to affection, reaches for toys, follows moving things, watches faces.
movement --> holds head steady, rolling, brings hands to mouth, holding toys and shaking them.
6 months:
social/emotional --> knows familiar faces, likes to play with people (esp. parents), likes to look at self in mirror.
communication --> responds to own names, starts making vowel sounds, makes sounds to show joy and displeasure, begins saying consonant sounds.
cognitive --> looks around, brings things to mouth, shows curiosity.
movement --> rolls over in both directions, sits without support, standing.
1 year:
social/emotional --> shy/nervous with strangers, cries when parents leave, has "favorites", repeats sounds/actions to get attention, helps with getting dressed, plays games (peak-a-boo).
communication --> shakes head no, nods, waves "bye", makes sounds with changes in tone, says "mama", "dada" "uh-oh", tries to say words you say.
cognitive --> explores things, copies gestures, puts things in containers or takes stuff out, pokes, follows simple directions.
movements --> sits without help, pulls up to stand, walks with grabbing on to things.
Signs in older children
uninterested or unaware of what's going on around them.
doesn't know how to connect with people, play, or make friends.
doesn't liked to be touched, held, or cuddled.
doesn't play "pretend" games.
has trouble understanding/talking about feelings.
doesn't seem to hear when people talk to them.
doesn't share interests/achievements with others.
speaks in abnormal tone of voice (ends every sentence as if asking a question).
repeats words or phrases.
refers to themselves in third person.
has difficulty communicating needs or wants.
takes what is said too literally (doesn't understand humor, irony, or sarcasm).
responds to a question by repeating it instead of answering it.
uses wrong words, incorrect grammar while talking.
Nonverbal communication:
avoids eye contact.
uses facial expressions that doesn't match what they're saying.
doesn't pick up on other's expressions, tone of voice, etc.
makes few gestures.
abnormal posture, clumsiness.
follows a rigid routine.
difficulty adapting to changes.
unusual attachments to strange objects (keys, rubber bands).
obsessively lines things up in certain order, arranges things.
narrow topic of interest, esp. numbers (memorizing/reciting facts about maps, train schedules, etc).
repeating actions over and over again (flapping hands, twirling, rocking).
In September, researchers at the University of California, San Diego found a rare, hereditary form of autism that maybe treated with supplements.
The scientists found six children with autism and epilepsy. In each case, the children were from Middle Eastern families where the children's parents were first cousins. They sequenced the genomes of these children and found that they each had mutations in a gene that normally prevents the breakdown of certain amino acids, resulting in low levels of branched chain amino acids. The body doesn't make these on its own; they must be gotten through food.
Later, the scientists found mice with the same gene mutation that also had the same branched chain amino acid deficiency and developed the tremors and epileptic seizures, just like the children. When the researchers treated the mice with a protein supplement that restored the depleted levels of the amino acids, their symptoms disappeared within a week.
The mutation found in the children and the mice inactivated a protein, called BCKD-kinase. This protein usually prevents the breakdown of the branched amino acid chains. When the levels of these drop, transporter proteins bring more of other large amino acids to the brain, compared to the branched amino acid chains. Right now, the researchers don't know if the high levels of the other amino acids are causing the autistic symptoms, or if it's the low levels of the branched amino acid chains.
Although this might seem like groundbreaking news, it may also be nothing important.

On one hand, the fact that researchers and scientists were able to solve or effectively treat a form of autism is amazing, and it's a big step in the right direction.
On the other hand, there could be a lot of contributing factors to this case. First of all, the children's parents were first cousins, and inbreeding is known to cause some problems. Secondly, there are many different forms of autism, and not all of them are the same. Just because this form was able to be cured or treated and alleviate the symptoms greatly, it doesn't mean that it will happen for all autism cases. Because there is no "typical" person with autism, there is no "typical" cure for all forms of autism.
Will there ever be a cure?
At this time, there is no cure for autism. There is only therapy for autistic people, which attempts to change the behaviors and lessen the symptoms.

This doesn't mean that there won't ever be a cure for autism. With more recognition for the disease, more time being put into researching, and more money being allocated to the cause, we know a lot more now then we ever have before. Sometime in the future, a cure could be found for autism spectrum disorder that could help millions of people around the world.
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