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Autism

Meredith Davidson, Jake Eggett, Zenaida Nickel
by

Jäkë Ëggëtt

on 19 April 2013

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Transcript of Autism

Receptors are concentrated heavily in the prefrontal cortex and the locus coeruleus Meredith Davidson, Jake Eggett, Zenaida Nickel Autism Overview Anti-Vaccination Movement Stimming Lining up toys Line up toys instead of "pretend play"
Can do this for hours
Disrupting the order can be very upsetting "A group of complex disorders of brain development."
Common characteristics:
Difficulties with social interaction
Problems with motor coordination
Issues with paying attention
No medical detection for autism
No cure So what causes it? Causation not fully understood
Heritability and environmental factors
Unclear which genes are responsible
Birth conditions may influence likelihood
Advanced parental age at time of conception
Maternal illness during pregnancy
Extreme prematurity
Vaccinations? Medications There is no standard medicine Medicines that are sometimes used to treat behaviors related to autism include selective serotonin reuptake inhibitors (SSRIs) and antipsychotic medicines SSRIs citalopram (Celexa), fluoxetine (Prozac), and sertraline (Zoloft, Lustral) May improve general behavior, language, learning, and socialization. Antipsychotics haloperidol (Haldol), risperidone (Risperdal) Side effects, such as weight gain, insomnia, and increased agitation, tend to be less serious than those of antipsychotic medicines. Risperidone Atypical antipsychotic Improves disruptive behavior symptoms in children five to 17 years of age. Only approved for autistic people with severe and enduring problems of violent meltdowns, aggression, and self-injury Behavioral Treatments Effectiveness varies by individual Both behavioral training and behavioral management use positive reinforcement to improve behavior. Consistent use of behavioral interventions produce the best results. Lining up toys Family treatment and support (RDI)
Behavior therapy (Applied Behavior Analysis (ABA), ESDM,PRT, Verbal Behavior therapy)
Shaping: reinforcing successive approximations of behavior
Backward Chaining: teach person to finish task, then gradually expand number of steps
Stimulus control: teach that a behavior belongs in some settings, not others TEACCH Alpha Blockers Guanfacine, Clonidine Selective α2A receptor agonist Guanfacine lowers both systolic and diastolic blood pressure Treats impulsive and aggressive behaviors Animals and Autism A study examined the interactions of children with autism spectrum disorder with an adult and their typically-developing peers in the presence of animals (two guinea pigs) compared to toys. Participants with ASD demonstrated more social approach behaviors and received more social approaches from their peers in the presence of animals compared to toys.
Also displayed more prosocial behaviors and positive affect as well as less self-focused behaviors and negative affect in the presence of animals compared to toys. DSM-5 Autistic disorder

Rett syndrome

Childhood disintegrative disorder

Pervasive developmental disorder-not otherwise specified (PDD-NOS)

Asperger syndrome AUTISM SPECTRUM DISORDER Stimming "Self-stimulatory behavior"
also called stereotypic behavior
Helps manage excitement, anxiety, fear, anger
Common examples:
Flapping
Rocking
Spinning
Repetition of words/phrases Sam Zach Skylynn Drake Meltdown: Different than a tantrum Tantrum Meltdown "Want" directed
Socially motivated
getting a reaction
Protects self
Can be resolved
Age: 1-5 years Overwhelmed
Reactive behavior
No social context
Safety compromised
No goal or objective
Occurs into adulthood Meltdown Michael How common is autism? Affects 1/88 children
5x more prevalent in boys (1/54)
Prevalence increases about 17% annually
Improved diagnosis Claim that vaccines are ineffective for preventing diseases and dangerous
Blame rise of autism on increased vaccinations
Specifically condemn thiomersal, a mercury-based vaccine preservative
Advocate for abstention from vaccination Deep Touch Pressure Therapy College students were found to feel relaxed after use of the squeeze machine. Occupational therapists have observed that a very light touch alerts the nervous system, but deep pressure is relaxing and calming. The Squeeze Machine Autistic children will often seek out deep pressure sensations Beneficial to those autistic people who have problems with oversensitivity to sensory stimulation Sensory processing problems may be explained by cerebellar abnormalities. Efficacy of Vaccinations Safety of Vaccinations The Centers for Disease Control and Prevention, the Institute of Medicine of the National Academy of Sciences, the UK National Health Service and the Cochrane Library Review have all concluded that there is no discernible link between vaccinations and autism Wakefield's Report Paper published in "The Lancet" in 1998 linked MMR vaccine (measles, mumps, rubella) to autism in 12 children
Conflict of interest issues revealed
Wakefield had patent for rival vaccine
Paid roughly $600,000 by lawyers preparing to sue vaccine manufacturers
Reports of ignoring certain data by lab assistants
Paper fully retracted by 2010; in 2011 declared "fraudulent" by the "British Medical Journal" Aftermath Vaccination rates plummet
Outbreaks of measles and mumps occur
1998: 56 cases of measles
2008: 1348 cases of measles, 2 deaths
January of 2005 had over 5000 cases of mumps alone (in the UK)
Wakefield is now a powerful figure in the anti-vaccination movement Neurobiology Cerebellum Hypoplasia (underdevelopment) of cerebellar vermis and hemispheres
Low amount of Purkinje cells
Abnormally low cerebellar activation during attention task
Abnormally high cerebellar activation during motor task Sources http://www.jneurosci.org/content/24/42/9228.long
http://ajp.psychiatryonline.org/article.aspx?articleID=176025
http://www.neurology.org/content/57/2/245.full
http://www.nimh.nih.gov/science-news/2012/social-brain-circuits-disrupted-in-autism.shtml
http://www.sciencedirect.com/science/article/pii/S0896627307007775
http://www.ama-assn.org/ama1/pub/upload/mm/464/geneticsofautism.pdf
http://www.ncbi.nlm.nih.gov/pubmed/17948868
http://www.utdallas.edu/~mxa049000/lessons/research/literature/Autism/super%20new/Lam%20neurochem%20of%20autism%20RDD%2006.pdf Neurobiology Abnormal size/rate of growth First 6-14 months = excess of white matter (hyperplasia)
Most enlargement observable in frontal and temporal lobes
Increases at a lower rate than normal
It is hypothesized that this excess of neurons leads to overconnectivity in critical regions of the brain Neurobiology Mirror Neurons Mirror Neuron System
Activated during observation and understanding of intentions of actions of others
Thought to mediate understanding of emotions or experiences of another person
Located in pars opercularis in inferior frontal gyrus
Autistic subjects show little to no activation of mirror neurons during observation or imitation of emotional face expressions Neurobiology Overconnectivity/Decoupled Brain Circuits Local over-connectivity causes a failure to create long-range networks Limbic system still functional, but operates out of sync Limbic system is involved in the emotional aspects of social behavior Genetics Fragile X Syndrome Mutation of "fragile x mental retardation 1" gene on the X chromosome
Often due to an increase of CGG trinucleotide repeats
1/4000 males, 1/5500 females
Leading known genetic cause of autism
Responsible for about 5% of autistic cases
People with Fragile X syndrome aren't always autistic
Estimated that only 15-33% people with Fragile X are also autistic Genetics Twin studies suggest that autism is heritable
Heritability index of .90
25X more likely if you have an autistic sibling
Cannot be traced to a single gene mutation or abnormality Neurochemistry Serotonin
Serotonin abnormalities seem to be most related to autism
Likelihood of autism increased by prenatal exposure to serotonin-increasing drugs, like cocaine and alcohol
Early neural development
Regulates development of serotonergic neurons and certain tissues, including hippocampus and cerebral cortex
It has been theorized that high levels of serotonin in early neural development can cause a loss of serotonin terminals in the mature brain
Can alter normal development
Evidence of reduced choline compound concentrations in cortical gray matter
Suggests decreased density of gray matter Genetics Promising Genes "Engrailed 2" gene (EN2)
Encodes protein involved in development of cerebellum
When improperly expressed, results in abnormal cerebellar circuitry and reduced cell number
SLC6A4 (serotonin transporter gene)
When improperly expressed, causes platelet hyperserotonemia
About 1/3 of patients with ASD also have hyperserotonemia
Hyperserotonemia (seratonin syndrome) is a consequence of excess serotonergic activity at in the CNS; toxic amounts
MET receptor tyrosine kinase gene
Codes for a protein that is important for neural signaling during neocortical and cerebellar development, immune system and gastrointestinal repair
When inheriting 2 copies of C allele (CC genotype) 2X likelihood of autism diagnosis Neurobiology Abnormal Columnar Organization Minicolumns
Group into macrocolumns to form receptive fields
Minicolumns are narrower in autism, increased density, smaller in size
Results in more local connections, fewer long-range connections The Need for Structure & Predictability Travel

School

Food This is Gabe Kinsey He wants to be an astronaut Compartmentalization of Life Home "looks" like this
School "looks" like that Objects
Activities
Diet He loves animals High affinity for the D2 receptor. It has actions at several 5-HT receptor subtypes. Guanfacine Behavior Modeling http://www.plosone.org/article/info:doi/10.1371/journal.pone.0057010 http://www.grandin.com/inc/squeeze.html Link to the Immune & Digestive System Short chain fatty acid Proprionate (PPA) Elevated PPA affects gut, immune and brain function. Specific to brain function: Present in normal diet as byproduct of the gut: particularly, with diarrhea, a common symptom of autism. brain metabolism, pH, calcium signaling,gene induction, neurotransmitter release, and intercellular communication. PPA produces behavioral and developmental abnormalities, such as hyperactivity, repetitive behavior, and social impairment when administered to rodents
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