Question Answers Flashcards
Brain areas small and larger in William syndrome and Down syndrome
William syndrome (small) overall brain size, fusiform William syndrome (larger) amygdala, FFA
DS (small) cerebellum, hippocampus
Larger
Common clinical characteristics between William syndrome and down syndrome
Social precariousness
Attentional issues
Low IQ
Social and language phenotypes in William syndrome and down syndrome
William syndrome = hyper sociable, strong verbal short-term memory, socially vulnerable (danger)
Down syndrome = hyper sociable, poor verbal short-term memory, imitation
Incidences of live births and William syndrome and down syndrome
One in 7500 = William syndrome
Downs
One in 700, 1000
60% spontaneously aborted 20%, stillborns
Describe the genetic basis of William syndrome and down syndrome
William syndrome = hemizygous deletion of 25 jeans and chromosomes seven
Down syndrome = trisomy 21, meiosis, translocation
Molecular consequences of Fx at synapses
FMR1 effects FMRP
Regulates translation of proteins, loss of FMLP reduce the synaptic pruning
How do you know dopamine is affected in Retts syndrome?
LDOPA helps rigidity
What does normal MECP2 do?
Gene = encodes the protein Protein = methyl binding protein – transcriptional silencer
Main diagnostic criteria of ASD
Deficient social communication (deficient in non-verbal and verbal communication, lack of social reciprocity, poor development/maintenance of relationships)
Restricted repetitive patterns of behaviour (stereotypes, excessive routines, restricted fixated interests)
Replicated brain changes in ASD
Early brain overgrowth,
Early signs of ASD
Less babbling, paucity of gestures, regression, joint attention, reduced social responses, difficulty sleeping
Gene involved in ASD
SHANK3
Secure glutamate receptors
Mutations reduce Neurotransmissions
Also MECP2 – FMR1
Non-diagnostics of ASD
Stereotypies, posture, toe walking, clumsiness
Changes at the synapse in ASD
Effects of FMR1 and SHANK3
Brain areas and dyslexia
Angular gyrus – lesions
Visual word form area
Not changes in the brain as such – activation
