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Autism. Laura Wong Laura.Wong@tufts.edu. Take Home Points. Autism (and ASD) is genetically and phenotypically diverse The unifying feature of the genetic data is that genes involved frequently relate to the synapse which can affect neuronal networks. Overview of the clinical features

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autism

Autism

Laura Wong

Laura.Wong@tufts.edu

take home points
Take Home Points
  • Autism (and ASD) is genetically and phenotypically diverse
  • The unifying feature of the genetic data is that genes involved frequently relate to the synapse which can affect neuronal networks
slide3

Overview of the clinical features

  • Current research
  • Some theories
  • Possible treatments
slide4

Overview of the clinical features

  • Current research
  • Some theories
  • Possible treatments
a little history
A little history
  • 1943, Leo Kanner
    • Observed 11 boys
    • Used term “autism” to describe the progressive loss of contact with outside world
  • Hans Asperger
    • Concurrently, and independently wrote thesis on same type of child
    • Also used “autism”
slide7
A 7-year-old boy has significant impairment in social interaction, lectures rather than converses, and is obsessed with dinosaurs. His cognitive and language development are age appropriate. The most likely diagnosis is: .
  • autism.
  • Asperger's disorder.
  • social anxiety disorder.
  • oppositional defiant disorder.
  • Rett' s disorder
slide8
A 7-year-old boy has significant impairment in social interaction, lectures rather than converses, and is obsessed with dinosaurs. His cognitive and language development are age appropriate. The most likely diagnosis is: .
  • autism.
  • Asperger's disorder.
  • social anxiety disorder.
  • oppositional defiant disorder.
  • Rett' s disorder
slide9
A 7-year-old child is brought in for an evaluation. The child began using phrase speech at 48 months of age, has poor self-help skills, and has an inability or unwillingness to follow instructions in class. The child does not engage in appropriate eye contact, respond to the social signals of others, nor engage in imaginative play. The child's language is still moderately delayed. The most likely diagnosis is:
  • childhood schizophrenia.
  • oppositional deviant disorder.
  • Asperger's disorder.
  • Rett syndrome.
  • autism.
slide10
A 7-year-old child is brought in for an evaluation. The child began using phrase speech at 48 months of age, has poor self-help skills, and has an inability or unwillingness to follow instructions in class. The child does not engage in appropriate eye contact, respond to the social signals of others, nor engage in imaginative play. The child's language is still moderately delayed. The most likely diagnosis is:
  • childhood schizophrenia.
  • oppositional deviant disorder.
  • Asperger's disorder.
  • Rett syndrome.
  • autism.
slide11
Autism most commonly occurs as a comorbid with which of the following?
  • Mental retardation
  • Bipolar affective disorder
  • Substance use disorder
  • Obsessive-compulsive disorder
  • Attention-deficit hyperactivity disorder (ADHD)
slide12
Autism most commonly occurs as a comorbid with which of the following?
  • Mental retardation
  • Bipolar affective disorder
  • Substance use disorder
  • Obsessive-compulsive disorder
  • Attention-deficit hyperactivity disorder (ADHD)
slide14

Overview of the clinical features

  • Current research
  • Some theories
  • Possible treatments
causes genetics at the synapse
Causes: Genetics at the Synapse
  • Neural migration
    • Reelin
    • Neurotrophin family
  • Synaptogenesis
    • Neuroligins
    • Neurexin
    • Shank3
  • Neurotransmission
    • Serotonin transporter
    • GABA and glutamate receptors
    • Voltage-gated ion channels
  • Each responsible for less then 1% of autism cases

Gepner et al 2009

autistic mouse model nlgn4 ko
Autistic Mouse Model: NLGN4 KO

Mouse Ultrasonic Communication

Mouse Socialization

Jamain et al 2005

problem
Problem

These mutations account for only a small percentage of autism!!

copy number variations
Copy Number Variations
  • Alterations of genomic DNA structure resulting in the cell having an abnormal number of copies of one or more sections of DNA
duplication of ube3a
Duplication of Ube3a

Smith et al. 2011

slide28

Overview of the clinical features

  • Current research
  • Some theories
  • Possible treatments
neuronal homeostasis
Neuronal Homeostasis

From Ramocki and Zoghbi, 2008

transcriptional studies
Transcriptional Studies

Neuronal genes

Inflammatory/Immune

slide34

Overview of the clinical features

  • Current research
  • Some theories
  • Possible treatments
chelation
Chelation

Trial to test use of DMSA (a common chelator) failed to pass IRB due to concerns regarding safety in those without detectable heavy metal poisoning.

minocycline
Minocycline

Dendritic spines

Ultrasonic Vocalizations

Rotschafer S.E, 2012

Bilousova et al, 2009

take home points1
Take Home Points
  • Autism (and ASD) is genetically and phenotypically diverse
  • The unifying feature of the genetic data is that genes involved frequently relate to the synapse which can affect neuronal networks
common traits of autism
Common Traits of Autism
  • Preference for aloneness
  • Insistence on sameness
  • Liking elaborate routines
  • Some abilities that seemed remarkable compared to deficits
core domains
Core Domains
  • Socialization
    • Impaired use of non-verbal behaviors
    • Delayed peer interactions
    • Absence of seeking to share enjoyment and interests
    • Delayed initiation of interactions
    • Little or no social reciprocity and absence of social judgment
  • Communication
    • Delay in verbal language without non-verbal compensation
    • Impairment in expressive language and conversation, and disturbance in pragmatic language use
    • Stereotyped, repetitive, or idiosyncratic language
    • Delayed imaginative and social imitative play
  • Behavior
    • Preoccupation with stereotyped or restricted interests or topics
    • Adherence to routines and rigidity behavior
    • Stereotyped, repetitive motor mannerisms
    • Preoccupation or fascination with parts of items and unusual visual exploration