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AUTISM SPECTRUM DISORDER :baby: (CATEGORY (childhood disintegrative…
AUTISM SPECTRUM DISORDER :baby:
SYMPTOM
social communication
talk about favorite subject
repeating words ECHOLALIA
lack theory of mind
REPETITIVE PATTERN OF BEHAVIOR
little eye contact
upset by slight change in routine
CATEGORY
Asperger's
mild end of spectrum
intelligent
pervasive developmental disorder
more sever than asperger
not as sever as autistic disorder
autistic disorder
no longer used
similar symptom, more intense level
childhood disintegrative disorder
rare
most severe
children develop normally, but lose mental skills around 2-4 yrs
develop seizure
genetic syndromes
tuberous sclerosis complex
Rett syndrome
timothy syndrome
the rest are sporadic
FRAGILE X SYNDROME
FXR1 protein/gene
FMR1 gene
haplosufficiency
disrupt the expression of the gene
occur in the 5' UTR
trinucleotide repeat expansion disease
normal CGG<45
CGG 55-200
primary ovarian insufficiency
fragile X-associated tremor ataxia syndrome
excess mRNA
CGG >200 lack FMRP - fragile X syndrome
encode FMRP
hypothesis 2
anagonist
no success
Novartis
might counteract the effect of FMRP loss
normal FMRP
limit the amount of synapse weakening
repress
mysterious
protein synthesis that promote AMPAR endocytocis
during mGluR-dependent LTD
dephosphorylate FMRP
no repression of protein
increase endocytocis
stimulate PP2A
responsible for de/phosphorylated FMRO
lack of FMRP increase internalization of AMPAR
hypothesis 1
loss of FMRP
which is stimulated by mGluR activity
decrease mRNA transport
protein bind to some mRNA-regulation
normal phosphorylated FMRP
repress translation
dephosphorylated FMRP
FMRP degrade
faster translating polyribosome
interaction with FXR1P and FXR2P
knockout
abnormal dendritic spine
elongated shape
increased in density
impaired LTD
mGluR-dependent receptor
knockout - form of LTP
independent of new protein synthesis
enhanced
dependent on early protein synthesis
most common hereditary
seizure 10%
elongated face
intellectual disability; autism
1:5000 births