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Introduction to Neurodevelopmental Diseases Flashcards

1
Q

What is a neurodevelopmental disorder?

A

Disorders of a genetic/multifactorial origin resulting in 1 or more cognitive deficit

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2
Q

A neurodevelopmental disorder brings about cognitive deficits present early in life, without showing ______ or ________

A

Relapse

Remission

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3
Q

Why is schizophrenia not regarded a neurodevelopmental disorder?

A

Sz has periods of relapse/remission. A ND disorder is constant

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4
Q

First step of diagnosis for a ND disorder?

A

Referral

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5
Q

2 examples of ND disorders with an established genetic basis?

A

William’s syndrome

Sotos syndrome

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6
Q

What are the current guidelines used for diagnosis of NDDs?

A

DSM 5/ ICD 10

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7
Q

Down’s Syndrome is caused by the presence of …

A

ALL or PART of a third copy of chromosome 21

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8
Q

How many chromosomes does a person with Down’s Syndrome have?

A

47

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9
Q

What is the most common chromosome abnormality in humans?

A

Down’s Syndrome

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10
Q

Is soto’s syndrome common?

A

No, very rare

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11
Q

A mutation in the ______ gene causes Sotos syndrome

A

NSD1

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12
Q

Individuals with Soto’s often have _______ disabilities

A

Intellectual

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13
Q

Example of a disorder with a less clear genetic basis

A

Autism

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14
Q

_____ genes are implicated in Autism

A

1000s of

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15
Q

Which NDD has a complex genetic basis?

A

Autism

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16
Q

It is unclear whether ASD is explained by….or…..

A

More rare mutations

Rare combinations of common genetic variants

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17
Q

How is ASD diagnosed?

A

On the basis of behaviour (no genetic testing)

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18
Q

Karmiloff-Smith believed….

A

NDD’s are a complex interaction of both genes and environment

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19
Q

Karmiloff-Smith believed which period is a ‘critical period’ for the development of NDDs?

A

Early years

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20
Q

Karmiloff-Smith believed there were few / many factors involved in the development of NDDs

A

Many

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21
Q

Karmiloff-Smith believed which factors may play a role in the development of NDDs in the uterus? (3)

A

Maternal diet
Infection
Stress

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22
Q

Is fetal alcohol syndrome an NDD? Why?

A

NO

Because it is an ACQUIRED disorder

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23
Q

3 reasons why the term ‘disorder’ is appropriate for individuals with NDDs

A
  1. Acknowledges impact of disability
  2. Potentially accurate description of experience
  3. NOT using the term may be trivialisation
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24
Q

What is neurodiversity?

A

An approach to learning & disability that suggests NDDs are a result of normal variations in human genome

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25
Which NDD is least researched?
Fragile X
26
Which NDD is most researched?
Autism
27
6 methodology examples for studying NDDs?
``` Questionnaires across populations Observations P/T questionnaires Experiments Cog neuro experiments Semi-structured interviews ```
28
Is fragile X most common in males or females?
Males
29
Prevalence statistics for fragile X?
1 in 4k males | 1 in 6k females
30
Why are Fragile X symptoms less severe in females?
Second X chromosome may be somewhat protective
31
Symptom of fragile X?
Impaired cognitive ability
32
How is FXS identifiable?
DNA blood test
33
What is the most common form of inherited intellectual disability?
FXS
34
When is FXS typically diagnosed?
3-4 years
35
Physical features of FXS?
Long narrow face Prominent jaw/ears Flat feet
36
Some of the personality features of FXS share similarities with...(2)
ADHD | Autistic
37
Fragile X is _____ co-morbid
Very comorbid
38
Dual diagnosis of FXS with .... is common
Autism
39
-----% of Fragile X patients also have autistic symptoms
50-90%
40
__% of FXS patients have an ASD diagnosis
25-80%
41
Prevalence of ADHD symptoms in children with FXS is between ____ and ____%
54-59%
42
Aside from ADHD and Autism, what else is quite common in FXS patients?
Epilepsy
43
Common STRENGTHS of FXS?
Imitation Visual learning Personable (humour)
44
FXS Which gender will display far more symptoms, and has a mean IQ of 40?
Males
45
First (2) signs of FXS in infancy?
Sensory/motor atypicalities (9-12m) | Missing milestones
46
Adaptive behaviour is measured via....
Vineland Adaptive Behaviour Scales
47
The "Vineland Adaptive Behaviour Scales" measured...
Real life skills | Independence
48
Which methodology does "Vineland Adaptive Behaviour Scales" employ?
Semi-structured parent interview
49
FXS Positive environmental influences may act as protective factors to adaptive behaviour outcomes, e.g...
Parental skill Emotional climate Organisation of the home
50
FXS What is the strongest predictor of outcomes?
IQ
51
Mean IQ in Males is
40
52
Who is more severely affected by Fragile X
Males
53
Mean IQ in Females with FXS is
70+
54
Differences between males and females with fragile X? (3)
1. Males have more severe intellectual disability 2. Males display ADHD-like features 3. Females more likely to suffer with anxiety/depression
55
Baumgardner et al., (1995) found that...
Males with fragile X are hyperactive/inattentive/impulsive
56
Freund & Reiss (1991) found that
Females with Fragile X experience anxiety, depression and strong emotions
57
What is meant by "sensory-motor atypicalities" in FXS? (2)
1. Decreased object play | 2. Atypical posturing
58
FXS (Glaser et al., 2003) Positive environmental influences may act as protective factors to...
Adaptive behaviour outcomes
59
Glaser et al., (2003) Environmental influences were predictive of adaptive behaviour outcomes, but the strongest was...
IQ
60
Glaser et al., (2003)
IQ and positive environental influences were the strongest predictors of adaptive behaviour outcomes
61
Glaser et al., (2003) Adaptive behaviour was measured via the...
Vineland Adaptive Behaviour Scales
62
Hoeft et al., (2010) Participants
1-3 year olds with fragile X, age and development-matched controls
63
Hoeft et al., (2010) Method
Grey/white matter comparison over 2 years
64
Hoeft et al., (2010) Conclusion
Clear structural differences in brain structure

NDDs/Stroke (9 decks)

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