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intro afternoon notes
week 23
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Cards (69)
What does ASD stand for in the context of neurodevelopmental disorders?
Autism
Spectrum
Disorder
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Which syndromes are included under ID?
Down’s syndrome
and non-syndromic ID
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What does CD refer to in neurodevelopmental disorders?
Focal cortical dysplasia
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What is a common characteristic of all the mentioned disorders?
They involve some degree of
developmental
delay
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What imbalance is often associated with these disorders?
Excitation/inhibition
imbalance
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What are some mechanisms identified in these disorders?
Chromosomal abnormalities
and
gene deletions
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What are the consequences of identified mechanisms in neurodevelopmental disorders?
Synaptic dysfunction
WNT-gene dysfunction
(cell polarity)
Epigenetic dysfunctions
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What does GWAS stand for?
Genome-Wide Association Studies
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What is the purpose of GWAS?
To compare
genomes
for
SNP
patterns
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What does NDD stand for?
Neurodevelopmental Disorders
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What are the impairments associated with autism?
Social interaction and communication
issues
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What is the male to female ratio for autism?
4:1
and
8:1
for high functioning
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At what age can autism be detected?
Before age
3
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What role does neurexin play in synapses?
Connects synapse properly for
neurotransmitter
levels
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What are the impairments associated with Rett Syndrome?
Hand skills
and communication impairments
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What is the genetic basis of Rett Syndrome?
X-linked mutation in MeCP2 gene
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When is Rett Syndrome typically detectable?
At 6-18 months
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What happens when MeCP2 is knocked out?
It causes Rett Syndrome
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What are the effects of deleting MeCP2?
Motor deficits and seizures
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What is the role of BDNF in Rett Syndrome?
It rescues the phenotype
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What are the impairments associated with Fragile X syndrome?
IQ
, verbal and motor
delay
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What genetic mutation is associated with Fragile X syndrome?
CGG repeat in FMR-1 gene
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How does extensive methylation affect FMRP expression?
It prevents expression of FMRP
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What are the characteristics of Autism Spectrum Disorders?
Impairments in social interaction
Communication difficulties
Restricted interests
Complex phenotype causing developmental delay or regression
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What is known about genetic risk factors for Autism Spectrum Disorders?
They are known but not fully understood
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What are the impairments associated with Autism?
Social interaction, communication,
restricted
interests
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What does 'mind blindness' refer to in Autism?
Difficulty
in
understanding
others'
perspectives
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What is the male-to-female ratio for Autism?
4:1
for general,
8:1
for high functioning
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At what age can Autism be detected?
Before age
3
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What are the signs of Autism at 12 months?
No response to
name
, no preference for
objects
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Who described Autism in 1943?
Kanner
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What are the signs of Autism at 18 months?
No
pointing
, no focus on others'
objects
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What are the signs of Autism at age 3 and older?
Language delay,
echolalia
,
idiomatic
speech
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What is a common comorbidity with Autism?
Seizures
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Who described Rett Syndrome in 1954?
Andreas Rett
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What are the impairments associated with Rett Syndrome?
Hand skills
,
communication
,
motor
and
mental retardation
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Why is Rett Syndrome more prevalent in girls?
It is
X-linked
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When is Rett Syndrome typically detectable?
About
6-18
months
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What characterizes the early development of Rett Syndrome?
Normal
early development followed by regression
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What is a common symptom of Rett Syndrome?
Loss of
speech
and
hand-wringing
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See all 69 cards
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