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Neuroscience > Autism > Flashcards

Autism Flashcards

1
Q

DSM-V criteria

A

Social communication and interaction

Restricted and repetitive behaviour

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2
Q

Patient studies identifying key autism features

A

Eye fixation
Theory of mind
Brain volume

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3
Q

Cerebellar injury

A

40x risk

CHI patients cognitive defects

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4
Q

Purkinje cell loss

A

73% children with autism show PC loss on autopsy
GABAergic neurons involved in cerebelllar motor co-ordination
GAD65/67 antibodies prevent L-glu to GABA conversion
Excitotoxicity due to GABA accumulation induces PC death

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5
Q

VPA exposure- sx, rat model

A

VPA- HDAC inhibitor
Trigonocephaly, flat nose, thin-arched eyebrows

Time dependent effects of VPA administration in rats- E12- Neural tube closure
- Greatest deficits in sociability/social preference tests
Valpromide- no HDAC activity- no behavioural differences

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6
Q

Polymorphisms in OXTR cause

A

Reduced pair bonding
Impaired facial recognition memory
Impaired emotional empathy

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7
Q

OXTR KO mice model

A

Three chamber test- social memory/preference
Aggressive behaviour
T maze reversal- resistance to change

Reversible upon OXT/AVP administration

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8
Q

CNTNAP2 KO model

A

CDFE syndrome- autism in 70% cases
KOs
-Social interaction (3 chamber test)

Restored with IV/endogenous Melanocortin-mediated OXT
Lower OXT in PVN cells; DREADD activation of these improved social interest

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9
Q

Intranasal OXT humans

A

DB RCT

Significant overall but individually only with easy questions

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10
Q

Symptoms/pathophysiology of FXS

A 
Large feet, face, jaw, ears
Flexible fingers
Macroorchidism
Cognitive/learning impairments
ASD in 1/3 patients

Increased (200+) CCG repeats in FMR1 gene

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11
Q

Fruitfly FXS model

A

dfmr1 mutants vs WTs
Courtship index
Rescue- partial restoration

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12
Q

Glutamate feeding and mGluR theory

A

Viability in glutamate excess

mGluR5 antagonists e.g. MPEP- improved viability and CI)

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13
Q

Crosslinking Immunoprecipitation

A

FMRP targets mRNA involved in synaptic function, and ASD candidate genes e.g. neuroligins

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14
Q

Plasticity in mGluR theory

A

FMR1 KO mice
Cortex LTP
Reduced GluR1 subunit expression
No changes in other learning-implicated proteins

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15
Q

Chronic CTEP for FMR1 KO mice

A

Commenced early adulthood
Dark compartmental assay
Locomotor hyperactivity
Reduction in elevated LTD and excessive hippocampal protein synthesis

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16
Q

Human mGluR therapies

A

Basimglurant DB RCT
- Dose groups less effective at reducing behavioural sx
Anxiety depression and mood scale

17
Q

Zebrafish model 16p11.2 del

A

KCTD13 gene knockdown- morpholinos

Macrocephaly

18
Q

Dose-dependent phenotype of 16p11.2 del

A

Deletion induced macrocephaly- no change in apoptosis
Duplication induced microcephaly- increased apoptosis

Deletion worse behavioural phenotype
- Locomotor ability, climbing ability

19
Q

16p11.2 KO mice

A

Unaffected domains

  • 3 chambered social interaction
  • Same sex social interaction

Affected

  • Male/female social interaction
  • Novel object recognition
  • Object location memory

KD mice become subordinates, 16p11.2 KD interacts with the environmental factors to induce cognitive/ social deficits

20
Q

Yang 16p11.2 Same environment study

A

Impaired learning in a touchscreen association assay

Normal fear conditioning

21
Q

16p11.2 deletion and mGluR

A

Deletion mice deficits in CFC and IA

  • mGluR5 dependent pathways
  • corrected upon CTEP administration

Genes in deleted region are a target of FMRP/ affect mGluR5 signalling e.g. KCTD13

Convergence of pathology

22
Q

Eker rats findings (TSC2 KOs)

A

Social behaviour

-Total social exploration

23
Q

mTOR inhibitors

A

Rapamycin, Everolimus

  • Reversed deficits in Eker rats
  • Improved performance in social recognition assay
24
Q

Tsc1 deletion Purkinje cells

A

Abnormal tsc1 confirmed increased ps6 immunostaining

Structural deficits in PC layer

  • Increased soma area, dendritic spine numbers
  • Increased markers of apoptosis (TUNEL, cleaved caspase 3)

Behavioural deficits TSC1KOs:
Social approach
Social novelty
Learning (Morris water maze)

Rapamycin prevented pathological deficits

25
Q

mTOR effects- 4EBP2

A

mTOR phosphorylates 4EBP2

Eif4ebp2KO:
Social approach behaviour
Stereotyped repetitive behaviours

Increased neuroligin translation
- promote increased mEPSC:mIPSC ratio
KO of neuroligins reduced autism like deficits

26
Q

Fragile X Syndrome features

A 
Long Narrow Face
Macro-orchidism
Large ears
Flat feet
Prominent Jaw

Most have social interaction/ communication deficits
1/3 meet full ASD criteria

27
Q

16p11.2 Deletion features

A

Macrocephaly, speech delivery issues, facial dysmorphology, ADHD, SZ

Autism in 25% cases
Represents 0.5% ASD cases

28
Q

Tuberous Sclerosis features

A

Dermatological, 80% have epilepsy (cortical tubers), neuropsychiatric disorders

Autism in 50% cases

Neuroscience (17 decks)

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