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NDDs/Stroke > Introduction to Neurodevelopmental Diseases > Flashcards

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
Q

Which NDD is least researched?

A

Fragile X

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26
Q

Which NDD is most researched?

A

Autism

27
Q

6 methodology examples for studying NDDs?

A 
Questionnaires across populations 
Observations 
P/T questionnaires 
Experiments 
Cog neuro experiments
Semi-structured interviews
28
Q

Is fragile X most common in males or females?

A

Males

29
Q

Prevalence statistics for fragile X?

A

1 in 4k males

1 in 6k females

30
Q

Why are Fragile X symptoms less severe in females?

A

Second X chromosome may be somewhat protective

31
Q

Symptom of fragile X?

A

Impaired cognitive ability

32
Q

How is FXS identifiable?

A

DNA blood test

33
Q

What is the most common form of inherited intellectual disability?

A

FXS

34
Q

When is FXS typically diagnosed?

A

3-4 years

35
Q

Physical features of FXS?

A

Long narrow face
Prominent jaw/ears
Flat feet

36
Q

Some of the personality features of FXS share similarities with…(2)

A

ADHD

Autistic

37
Q

Fragile X is _____ co-morbid

A

Very comorbid

38
Q

Dual diagnosis of FXS with …. is common

A

Autism

39
Q

—–% of Fragile X patients also have autistic symptoms

A

50-90%

40
Q

__% of FXS patients have an ASD diagnosis

A

25-80%

41
Q

Prevalence of ADHD symptoms in children with FXS is between ____ and ____%

A

54-59%

42
Q

Aside from ADHD and Autism, what else is quite common in FXS patients?

A

Epilepsy

43
Q

Common STRENGTHS of FXS?

A

Imitation
Visual learning
Personable (humour)

44
Q

FXS

Which gender will display far more symptoms, and has a mean IQ of 40?

A

Males

45
Q

First (2) signs of FXS in infancy?

A

Sensory/motor atypicalities (9-12m)

Missing milestones

46
Q

Adaptive behaviour is measured via….

A

Vineland Adaptive Behaviour Scales

47
Q

The “Vineland Adaptive Behaviour Scales” measured…

A

Real life skills

Independence

48
Q

Which methodology does “Vineland Adaptive Behaviour Scales” employ?

A

Semi-structured parent interview

49
Q

FXS

Positive environmental influences may act as protective factors to adaptive behaviour outcomes, e.g…

A

Parental skill
Emotional climate
Organisation of the home

50
Q

FXS

What is the strongest predictor of outcomes?

A

IQ

51
Q

Mean IQ in Males is

A

40

52
Q

Who is more severely affected by Fragile X

A

Males

53
Q

Mean IQ in Females with FXS is

A

70+

54
Q

Differences between males and females with fragile X? (3)

A
  1. Males have more severe intellectual disability
  2. Males display ADHD-like features
  3. Females more likely to suffer with anxiety/depression
55
Q

Baumgardner et al., (1995) found that…

A

Males with fragile X are hyperactive/inattentive/impulsive

56
Q

Freund & Reiss (1991) found that

A

Females with Fragile X experience anxiety, depression and strong emotions

57
Q

What is meant by “sensory-motor atypicalities” in FXS? (2)

A
  1. Decreased object play

2. Atypical posturing

58
Q

FXS (Glaser et al., 2003)

Positive environmental influences may act as protective factors to…

A

Adaptive behaviour outcomes

59
Q

Glaser et al., (2003)

Environmental influences were predictive of adaptive behaviour outcomes, but the strongest was…

A

IQ

60
Q

Glaser et al., (2003)

A

IQ and positive environental influences were the strongest predictors of adaptive behaviour outcomes

61
Q

Glaser et al., (2003)

Adaptive behaviour was measured via the…

A

Vineland Adaptive Behaviour Scales

62
Q

Hoeft et al., (2010)

Participants

A

1-3 year olds with fragile X, age and development-matched controls

63
Q

Hoeft et al., (2010)

Method

A

Grey/white matter comparison over 2 years

64
Q

Hoeft et al., (2010)

Conclusion

A

Clear structural differences in brain structure

NDDs/Stroke (9 decks)

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