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Atypical Brain Development and Degeneration > Fragile X Syndrome > Flashcards

Fragile X Syndrome Flashcards

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1
Q

What is a Neurodevelopmental disorder?

A

Disorders that are of a genetic or multifactorial origin that result in one or more specific cognitive deficits.
These deficits are present early in life and extend into adult life without showing relapse or remission

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2
Q

Neurodevelopmental Disorders are not..?

A

Acquired disorders such as foetal alcohol syndrome

Disorders which are prone to remission such as Schizophrenia

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3
Q

What is neurodiversity?

A

An approach to learning and disability that suggest that diverse neurological conditions appear as a result of normal variations in the human genome

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4
Q

Step to a diagnosis of a Neurodevelopmental disorder

A

Step 1 - Referral, usually from a GP or health visitor

Step 2 - Formal assessment (NHS) by a clinical psychologist or clinical geneticist

Step 3 - Post-diagnostic support e.g. speech and language therapist

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5
Q

Two main ways of diagnosing NDDs

A

DNA blood test

Behavioural assessment

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6
Q

Methodology for studying NDDs

A

Population based prevalence studies

Behavioural observation

Parent/teacher questionnaire

Behavioural experiments
- Eye-tracking, standardised cognitive experiments

Cognitive neuroscience experiments
- fMRI, EEG

Semi-structured interviews

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7
Q

How many people does FXS affect?

A

1 in 4000 males

1 in 6000 females

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8
Q

Why are symptoms less severe in females?

A

Second X chromosome seems to be somewhat protective

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9
Q

What is FXS caused by?

A

An expansion of the CGG repeat at the beginning of the FMR-1 gene on the X chromosome

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10
Q

What different kinds of mutation are there?

A

Full mutation

Premutation

Normal

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11
Q

Full mutation

A

200 - 2000 repeats

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12
Q

Premutation

A

50 - 200 repeats

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13
Q

Normal mutation

A

5 - 50 repeats

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14
Q

How is FXS diagnosed?

A

DNA blood test

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15
Q

FXS is the ______ of inherited intellectual disability

A

Most common form

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16
Q

What age is FXS typically diagnosed at?

A

3 - 4 years

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17
Q

There has been shown to be enlarged grey matter volume in what parts of the brain in FXS?

A

Caudate
Thalamus
Fusiform gyri

18
Q

There has been shown to be reduced grey matter volume in what parts of the brain in FXS?

A

Cerebellar vermis

19
Q

There has been shown to be enlarged white matter volume in what part of the brain in FXS?

A

Striatal-prefrontal regions

20
Q

What do brain differences in FXS show?

A

Early, possibly prenatal, genetically mediated alterations in neurodevelopment

21
Q

Physical features associated with FXS?

A

Long, narrow face
Prominent jaw
Prominent ears
Flat feet

22
Q

Cognitive and behavioural features of FXS

A

Short attention span

Distractibility

Impulsiveness

Restlessness

Overactivity

Sensory problems

Social difficulties
- Extreme shyness/social anxiety

Emotional difficulties

Communication difficulties

23
Q

Co-morbidity of FXS

A

Dual-diagnosis of autism is common (Bailey et al., 1998)

24
Q

How many people with FXS have autistic symptoms?

A

50-90%

25
Q

How many people with FXS have an ASD diagnosis?

A

25-80%

26
Q

Prevalence of ADHD symptoms in children with FXS is between _____ and ______ (______)

A

54% and 59%

Sullivan et al. (2006)

27
Q

What other disease is quite co-morbid in FXS?

A

Epilepsy

28
Q

Common strengths in FXS

A

Really good imitators

Visual learning

Personsable

29
Q

Mean IQ for males with FXS?

A

40

30
Q

Mean IQ for females with FXS?

A

70+ (normal range)

31
Q

Cognitive and behavioural profile for males with FXS?

A

Communication impairment
- Language deficit

Social impairment
- Anxiety

Hyper-activation

Inattention

Impulsivity

Hyper-arousal

32
Q

Who found the typical cognitive and behavioural profile for males with FXS?

A

Baumgardner, Reiss, Freund & Abrams (1995)

Baumgardner et al., 1995

33
Q

Cognitive and behavioural profile for females with FXS?

A

Social difficulties

  • Emotional
  • Anxiety
  • Depression
34
Q

Who found the typical cognitive and behavioural profile for females with FXS?

A

Freund & Reiss (1991)

35
Q

First signs of FXS?

A

Sensory-motor atypicality’s at 9 - 12 months

  • Decreased object play
  • Increased leg stereotypies
  • Atypical posturing
  • Prolonged visual attention to objects
36
Q

What may cause parents to seek medical attention with their child?

A

Missing milestones

37
Q

How are adaptive behaviours measured?

A

Vineland Adaptive Behaviour Scale

38
Q

What is measured by the Vineland Adaptive Behaviour Scales?

A

Communication

Daily Living

Socialisation

Motor controls

39
Q

What is the strongest predictor of outcomes on the Vineland?

A

IQ

40
Q

What can act as protective factors for adaptive behaviour outcomes?

A

Positive environmental influences (Glasser et al., 2003)

  • Parental expectations
  • Parenting skill
  • Emotional climate
  • Organisation of the home

Atypical Brain Development and Degeneration (10 decks)

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