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BMSC3146 > Neurodevelopmental syndromes and ASD > Flashcards

Neurodevelopmental syndromes and ASD Flashcards

1
Q

FXS is the

A

Most frequent monogenic cause of autism

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2
Q

FXSis a genetic disease that

A

Causes a range of developmental problems including learning disabilities and cognitive impairment

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3
Q

Features of FXS

A 
Long and narrow face
Large ears 
Prominent jaw and forehead 
Flat feet
Macroorchidism
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4
Q

FXS is diagnosed by

A

Blood test

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5
Q

Molecular basis of FXS

A

CGG trinucleotide expansion repeats at gene locus Xq27.3 causing alteration in FMR1 gene

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6
Q

Normal/ healthy CGG trinucleotide expansion repeat

A

6-55

mRNA produces FMRP

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7
Q

Premutation CGG trinucleotide expansion repeat

A

55-200

May show mild cognitive and motor deficits in old age

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8
Q

Abnormal CGG trinucleotide expansion repeat

A

Full mutation over 200-1000 repeats
No mRNA, no protein
Shown in western blot

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9
Q

Evidence of FXS

A

Use drosophila model

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10
Q

Advantage to drosophila model

A

No licence required and short generation time

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11
Q

Drosophila gene used..

A

dFMR1 which is the orthologue of FMR1

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12
Q

Study social interaction of drosophila (impaired in ASD)

A

Courtship

Forward to female and tapping, vibrating and copulation

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13
Q

Dockendorff et al 2002

A

Looked at WT and mutant flies with mutation in dFMR1 gene

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14
Q

Dockendorff et al 2002 courtship assay

A

10 min assay with virgin female and 5 day old male mutant

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15
Q

Dockendorff et al 2002
courtship assay
RESULTS

A

Mutant animals showed sig less courtship than WT and spent sig less time engaged in active courtship
More time spent in forward tapping phase
Same in immature males - no courtship in mutant

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16
Q

Conclusion of Dockendorff et al 2002 assay

A

Less social interaction of the mutants

17
Q

Advantages to Dockendorff et al 2002 assay

A

Cheap to keep, quick generation interval, brain autopsy

18
Q

Disadvantages to Dockendorff et al 2002 assay

A

Too different from humans

Sequence identity between FMR1 and dFMR1 is low

19
Q

Tuberous sclerosis complex is..

A

associated with ASD
Causes mainly benign tumours to develop in different parts of the body
Behavioural problems such as ASD

20
Q

TSc ranges from mild to severe

A

Autosomal dominant rare genetic disease that affects

1 in 6000 people

21
Q

Prevalence of ASD in TSC patients

Vignoli et al 2015

A

High prevalence

40%

22
Q

Symptoms of TSC

A

Dermatological manifestations e.g. leaf spots
Neuropsychiatric symptoms
Cortical tumours- benign tissue growth replace normal tissue, disrupts highly organised neurological connections of the cerebral cortex
Enclosed in skull squeezing and displacing other part of brain

23
Q

Molecular basis of TSC

A

Single gene mutation in TSC1 (hamartin) or TSC2 (tuberin)

Usually tumour suppressors regulating mammalian target of rapamycin (mTOR) signalling pathway

24
Q

Mutations of TSC1 and 2 cause..

A

Hyperactivation of the pathway causing abnormal cell growth, proliferation and tumourgenesis
Uncontrolled pathway

25
Q

Link of TSC to ASD demonstrated by

A

Jeste et al 2014

26
Q

Jeste et al TSC study

A

40 infants with TSC included
Autism observation scale at 6, 9, 12 and 18 months
Diagnostic observation schedule at 18, 24 and 36 months

27
Q

Jeste et al 2014 results

A

55% diagnosed with ASD

28
Q

Usefulness of AOSI as a measure of ASD behaviour evaluated by Capal et al 2017

A

Found it useful clinical tool in determining which infants with TSC are at increased risk for developing ASD

29
Q

Activity Dependent Neuroprotective Protein syndrome

A

Complex neurodevelopmental disorder that affects the brain and many other areas and functions of the body

30
Q

ADNP syndrome patients have

A

Mild to severe delays in intelligence, speech and global motor planning
Causes behaviour disorders e.g. ASD

31
Q

Molecular basis of ADNP syndrome

A

Caused by de-novo ADNP brain gene (locus 20q13.13) mutation found by Helsmoortel et al in 2014

32
Q

ADNP is

A

Vasoactive intestinal peptide responsive gene

33
Q

ADNP gene normally..

A

Important in brain function and development as well as protecting nerve cells against electrical blockage

34
Q

Aetiology of ADNP

A

Uncertain but thought that abnormal gene product competes with WT to bind to BAF(?) complexes

35
Q

Arnett et al 2018

A

Examined the ASD phenotype in sample of representative youth with ADNP disruption

36
Q

Arnett et al 2018 found..

A

AMong individuals with a mutation to ADNP 64% met DSM-5 diagnostic criteria for ASD
Reported ASD symptoms among youth ascertained for ADNP syndrome are characterised by relatively mild social communication deficits

BMSC3146 (10 decks)

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