Lec 10/11 Flashcards

1
Q

Who is Leo Kanner?

A
  • -first individual to put forward in a paper a description of Early Infantile Autism
  • -Noticed a group of kids who seemed to be living in their own world, had problems with language and social development, making eye contact and so he coined the term Early Infantile Autism
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2
Q

Who is Hans Asperger?

A
  • -Hans Asperger also noticed a population of kids that did seem to have the same characteristics as what was described by Leo Kanner, both emphasized the profound lack of social awareness. However the kids that Asperger identified had better language and communication skills.
  • -In 1944 Asperger coined the term Asperger syndrome but in 1991 it was updated (we no longer use Asperger syndrome it has been removed from the DSM as of 2013)
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3
Q

What does autism mean?

A

Autism means self-focused

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4
Q

How did the DSM-5 change the diagnosis of Autism and Asperger’s Syndrome?

A
  • -Up until the DSM5, individuals on the extreme end of the autism spectrum were diagnosed with autistic disorder. Those with higher levels of function were diagnosed with Asperger’s syndrome.
  • -In the DSM-5 Asperger’s has been folded into Autism Spectrum Disorder, which is now given a numerical grade based on the functional impairment.
  • —>Grades range from 3 – “Requires very substantial support” to 1 – “Requires support”.
  • -Thus high-functioning autism and Asperger’s syndrome are now diagnosed as different levels of Autism Spectrum Disorder
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5
Q

Why were parents/caregivers upset about the changes in the DSM-5 relating to Autism and Aspergers?

A

Parents/caregivers, with the changes in the DSM5 that considers autism and aspergers as different levels of the autism spectrum, were upset because of funding and resources. Children who are diagnosed as having autism, the support needed for the child is expensive if it is a private practice. There is some support coming from the provincial and federal governments but there is a very long wait-list (CHEO). In the States however, when the new DSM5 terminology came into play, children who were previously diagnosed as having aspergers were no longer eligible for funding from their insurance

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6
Q

What is the prevalence of autism?

A

The prevalence of autism may be as high as 1 in every 500 births. Autism spectrum disorders (ASD) as a whole have a prevalence of around 1 in every 110 births.

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7
Q

When does autism spectrum disorder appear?

A
  • -Autism spectrum disorders typically appear in early childhood, often being first recognized during the second year of life.
  • —>Not surprisingly, this is around the same time social behavior is supposed to begin developing.
  • -Parents often report a roughly normal pattern of development up to the 12 month mark, followed by a startling decline in function in following years.
  • —>This pattern of development has given rise to many superstitious theories of autism, for example the putative link to vaccines (the delivery of which coincides with sudden declines in function).
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8
Q

What are the three things autism spectrum disorder is characterized by?

A
  • -Impaired communication
  • -Impaired social interactions
  • -Restricted behavior, interests, and activities
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9
Q

How is communication impaired in autism?

A
  • -Echolalia: repeating the speech and intonation of others is common.
  • -Children may possess an odd combination of verbal abilities, for example knowing the alphabet but not their own name.
  • -Individuals may have an overly literal understanding of language: may have difficulties understanding analogies and metaphors.
  • -Language skill can vary widely, with some individuals showing extremely high levels of function.
  • -On average, about 1/3 of people with autism never acquire speech at all.
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10
Q

How are social interactions impaired in autism?

A
  • -Social Cognition: how you think about yourself and your social world. Also the knowledge of the perceptions, ideas, and intentions of others
  • -This is something that they learn (young children are not very empathetic because it is still something that they are learning as they develop)
  • -Distinctions between what is more and less important
    e. g., what is social and nonsocial, people more important
  • -Children without autism have first words that relate to their world (toys, candy, mom/dad), while children with autism may have random words like wall and paper clip because they have diminished observational learning so they only just copy rather than learn
  • -Affective social competence: we as humans have the ability to feel and express emotions without saying anything, as well as read others’ emotions. Paul Eckman, a social psychologist, demonstrated that each of these facial expressions involve discreet utilization of facial muscles (there is a number of different facial muscles). We not only have the ability to do it, we can also see it in others. As humans we are highly social to be able to communicate with others using these facial muscles. The ability to learn facial expressions is innate but we need to be exposed to these to learn and express it
  • -Low functioning kids on the autism spectrum are unable to have affective social competence. They struggle to understand that somebody is feeling sad or upset. High-functioning kids can do it, but they say that it feels robotic-they lack the actual sense of emotion related to the facial expression
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11
Q

What is theory of mind?

A
  • -Ability to attribute mental states to others
  • -Others are separate selves, with own points of view and feelings
  • -People without autism understand other people maybe feeling a different way. Like understanding that someone else is sad even if you aren’t. However, people with autism assume everyone feels the same way as them and even assume inanimate objects feel the same way as them. This is something that is developmentally progressed and is attained around the age of 4 or 5. It is the ability to separate yourself with your own points of views and feelings
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12
Q

What is the Sally-Anne test?

A
  • -how to test if a child has theory of mind
  • -story about how one kid named Sally puts her ball into a basket and then leaves. Another girl named Ann takes the ball out of the basket and puts it into a box. Sally comes back and wants the ball. Where will Sally look?
  • -Kids that do not have theory of mind will look in the box because they will assume that sally knows what anne knows (anne knows that she put the ball in the box so they assume that sally must also know that). Kids that do have theory of mind know that sally doesn’t know what anne knows so sally will check the basket.
  • -The other test is called the smarties test where you show a child a smarties box with crayons in it. They know that inside the box there is crayons. You then ask them what someone else might think is inside the smarties box. If they say smarties, then they have theory of mind.
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13
Q

How are behaviours, interests, and activities restricted in autism?

A
  • -Individuals with autism often exhibit repetitive, apparently pointless behaviors called stereotypies (also called stimming)
  • -Example stereotypies include: rocking, hand flapping, yelling etc.,
  • -These can often be self-injurious.
  • -We can measure stereotypies by giving high dose cocaine or amphetamines, these animals will behave in repetitive, meaningless ways.
  • -People with autism are very sensitive to sounds, sights, and touch (almost like they have an overly hardwired sensory system) so they need to control for that using stimming to control for the bright lights. Or wearing headphones is used to control for all the noise (they don’t like to be in noisy areas because the ear must do a lot of unpacking of sound to pay attention to conversation)
  • -Autism is associated with an intense preference for the status quo – individuals like things to stay the same (routine, predictability).
  • -Ritualistic behaviors may also be apparent, for example lining up one’s blocks in order from largest to smallest
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14
Q

What is the genetic etiology of ASD?

A
  • -Concordance rate for monozygotic twins is 36-91%; DZ twins 0-5%
  • -4 x more common among males than females
  • -The fundamental pathology of autism involves social behavior. There is a ton of genes that code for social behavior because fundamentally, we are a social species. Being social and engaging in social connections is fundamental to our survival. When we experience social isolation, the body regards it as a threat because it is a threat to our survival. Our ancestors lived in social groups that helped them survive. So, the brain is shaped by many genes that are involved in many circuits and biochemical proteins that are involved in social behavior. Like epilepsy, autism can be caused by a host of genes and gene mutations. So, it Is not any one particular gene, it could be several. The cause is most likely predisposed coupled with environmental input. The genes that are implicated in autism are those that are implicated in things that code for intellectual disabilities (IQ), other neuropsychiatric disorders such as epilepsy (epilepsy and autism mostly co-occur), de novo mutations (mutations in the gene copies (ex having extra amino acids), common pathway genes (genes that are involved in laying down circuits for specific functions)
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15
Q

Who is Andrew Wakefield and what did he do?

A

Physician – he demonstrated that following the MMR vaccine (measles, mumps, rubella vaccine) around 18 months of age, what he noticed was that there was populations of kids that had specific issues with their gastrointestinal tract and also developed autism. This was a case study of 12 kids that went through gastrointestinal, neurological assessment. They had MRI’s, EEG’s, biopsies of their GI tract and all of them had abnormalities and chronic inflammation in the colon. 9/12 developed autism. Wakefield went on to claim that the cause of these abnormalities and the autism was the vaccine. It was found that Wakefield had been paid by a company that wanted to do a pharmacological intervention with these kids.
–Jenna McCarthy started the AutismOne conference which is a conference that invites a lot of people who think chakras and crystals will help heal you

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16
Q

What are the environmental risk factors of autism?

A

–Maternal diet: deficient in essential nutrients and fatty acids (important for myelination of the brain so we aren’t getting the connectivity)
–Maternal smoking, exposure to alcohol or other drugs during pregnancy
–Exposure to air pollutants
–Poor socioeconomic status: Kids that come from poverished families aren’t as health because their diets aren’t good, they’re exposed to more pollutants
–Low maternal education level
–Advanced maternal and paternal age (we don’t know why though)
–Folic acid status: low folic acid during pregnancy = increased risk for neural tube defects in the babies
So if you are sexually active, even if on birth control and not trying to have a baby, it is recommended to have folic acid
–No single environmental factor is sufficient to influence the predisposition to ASD; combination of factors!

17
Q

What are the medical comorbidities of autism?

A
  • -Immune dysregulation and gastrointestinal disturbances are common among individuals with ASD
  • —>Post-mortem brains of ASD patients show increased microglia activation, elevated proinflammatory cytokines (shows that their immune system is much more heightened)
  • —>Greater prevalence of gastrointestinal disorders compared to controls, e.g., diarrhea/constipation, abdominal pain, reflex
18
Q

What is the gut dysbiota in autism?

A
  • -Gut microbiota: microorganisms, bacteria, viruses, protozoa and fungi that are present in the gastrointestinal tract
  • -We get our microbiota from our mom. Children born vaginally get all this gut microbiota from the vagina that coats their face and body and it goes inside them via the nose and mouth. Children born via C-section do not have this opportunity to get the gut microbiota have more issues relating to illness than babies born vaginally.
  • -Signals to the brain both directly and indirectly (via the immune system)
  • -Mouse models of ASD (maternal immune activation) results in impaired social communication and stereotyped behaviors, as well as disturbed GI and immune functions!
  • -Microbiota is the intersection between genes and environment  composition depends on genetics, and is shaped by environment
19
Q

What is the neurobiology of autism?

A
  • -ASD no longer viewed as a focal impairment in a specific brain region or circuit
  • -Instead, condition resulting from overall brain reorganization, beginning early in development
  • -Accelerated brain development early in life (“early brain overgrowth”) more brain cells: results in overall brain under-connectivity (with local over-connectivity in frontal / occipital regions)
  • -Morphological abnormalities at the microstructural level (alterations in the brain cells)
  • -have much bigger brains
20
Q

What is the Extreme Male Brain Theory?

A

–Sex-linked dimensions of brain functioning
–E.g., logical, systematic thinking in men vs. relational empathy in women
–Autism is extreme example of “normal” male profile
–Female is the default sex, but the Y chromosome initiates a cascade of events that change the direction of brain development from female to male (this is why you see more male to female trans)
The entire brain is basically washed by these hormones and activation of certain proteins
–According to Simon Baron-Cohen, the presence of testosterone will alter brain development

21
Q

How is prenatal testosterone linked to autism?

A
  • -Eye contact at 12 months of age is correlated with prenatal testosterone.
  • —>Males naturally make less eye contact than females, and this is exacerbated by excess prenatal testosterone. Interestingly, this is also a trait on the autism spectrum.
  • -Prenatal testosterone also seems to reduce performance at “mind-reading” tasks.
  • —>These are experimental tasks where children are asked to look at a picture of a person, and guess what that person’s emotional state may be
22
Q

What is the mirror neuron system?

A
  • -Mirror neurons are neurons that will fire both when an individual performs a certain action, and when they observe that action being performed by someone else.
  • –it would fire not only when the action is directly seen, but also when it is implied
  • -Mirror neurons can be found in a variety of places throughout the cortex, though they were first discovered in the premotor cortex .
  • -Premotor cortex: strip of cortical tissue right at the bridge of the frontal lobe where it meets the parietal lobe. It is involved in motor planning. So, as you are going to toss a ball, your premotor cortex is thinking of all the movements involved in throwing the ball and sending that information to the motor cortex which will then initiate the motor circuit. What they found was that these animals, the activity of the populations of cells in the premotor cortex weren’t only active when the animal was throwing the ball or planning to throw the ball, but also when the monkey was watching another monkey throw the ball.
  • -Mirror neurons have also been found in the cingulate cortex (part of the limbic system involved in emotions and motivations), and the insula (involved in the expression of disgust so if you see someone eating something and then showing disgust, the insula will fire and you will know you should not eat that)
23
Q

How are dysfunctions of the mirror neuron system linked to ASD?

A

–These mirror neurons are also found in areas of the brain involved in social behavior.
–Much of what we do is observational learning
–It seems that many of the deficits seen in autism are precisely those skills that are controlled by mirror neurons.
–fMRI while observed or imitated facial emotional expressions
–Kids with ASD showed reduced activity in the frontal mirror neuron system (pars opercularis [part of Broca’s area] of inferior frontal gyrus)
–Negative correlation with severity of disorder
Higher severity – lower activity in MNS

24
Q

What are the therapeutic treatments of autism?

A
  • -No pharmacotherapy available (only for concurrent disorders) because it involves many circuits of the brain
  • -Mostly, behavioural-based therapies; most common is “Applied Behaviour Analysis” (ABA): emphasize play, social interaction, and communication initiation; the “natural consequences” are the reward