Atypical Development & Neurodevelopmental Disorders Flashcards

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1
Q

What are neurodevelopmental disorders?

A

Become apparent early in childhood. Affect social, cognitive, language and emotional systems.
CNS is atypical in some way - the brain.

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2
Q

What can cause neurodevelopmental disorders?

A

Genetic variability.
Toxic environmental factors.
Severe deprivation.
Congenital injury.

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3
Q

What is classified as severe and profound intellectual disability?

A

Severe - 20-34.

Profound - 20 or less.

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4
Q

Is autism more common in males or females?

A

Males.

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5
Q

What is autism?

A

Mutifactorial system condition with multiple causes. Present from childhood.
Social communication skills - avoidance of eye contact.
Repetitive behaviour & restricted interest - insistence on sameness, repetitive speech, compulsive behaviours.
Other influencing factors - temperament, environment, cognition.

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6
Q

What is the IQ distribution in autism like?

A

Bell curve shifts depending on type.

AD lower than average IQ. Asperger higher than average IQ.

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7
Q

What is tuberous sclerosis complex caused by?

A

Mutation in TSC1 gene or TSC2 gene.

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8
Q

What are some of the main effects of TSC?

A

Epilepsy. ID. High prevalence of autism.

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9
Q

What is the IQ distribution in TSC like?

A

It is a bimodal distribution - shifted to the left compared to the general population (lower IQ than average).

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10
Q

What is a criticism of using global IQ?

A

Potvin (2015) - there are uneven profiles of IQ in neurofibromatosis1.
NF1 shows the opposite profile to ADHD - global IQ is inadequate for describing the cognitive phenotype.
It is difficult to measure IQ in NDDs due to different profiles. High variability.

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11
Q

What is attentional control (cognition)?

A

Individual’s capacity to choose what they pay attention to and what they ignore - attention shifting+ inhibition.
6-9 months - attentional shifting observed.

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12
Q

What are the two main NDDs where attentional control is affected?

A

Fragile Z syndrome + Prader-Willi syndrome.

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13
Q

How is fragile X syndrome caused?

A

X chromosome - FMR1 gene + CGG repeat expansion.

Has a strange pattern of inheritance due to CGG repeat expansion. Usually female carriers but it is male prevalent.

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14
Q

What are the characteristics of fragile X?

A

Intellectual disability - severe.
Autism characteristics - averted eye gaze, repetitive behaviour.
Likelihood of ADHD diagnosis.
Likelihood of receiving attention-related diagnosis.
Impairment in inhibition + visual attention switching.

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15
Q

How is Prader-Willi syndrome caused?

A

Chromosome 15, q11-q13. Can be either - paternal deletion, maternal uniparental disomy or imprinting abnormality.

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16
Q

What are the characteristics of Prader-Willi?

A
Shift in IQ distribution by around 40 points. 
Physical phenotype. 
Temper outbursts. 
Repetitive behaviour. 
Deficits in inhibition.
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17
Q

What is the main task used to test attentional control?

A

The Simon task.
Press left button when seeing blue circle, press right button when seeing green circle.
Location of stimulus presents an interference to correct response.

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18
Q

Describe the main results of attention switching in FXS and PWS.

A

All groups have slower RTs for incongruent vs congruent stimuli.
PWS + FXS show greater costs of attention switching compared to controls - especially in congruent trials.
When ID is controlled for - evidence only remains for PWS.
Longer RTs are positively correlated with adherence to routine and repetitive questioning - shows evidence for difficulties in attention control in PWS.

19
Q

What is social orienting?

A

Preference for social vs non-social information.

20
Q

What is theory of mind?

A

The ability to understand others’ thoughts and desires.

21
Q

What are the two main NDDs where social processing is affected?

A

Autism + Williams syndrome.

22
Q

How is Williams syndrome caused?

A

Microdeletion of 26-28 genes on chromosome 7q11.23.

23
Q

What are the main characteristics of Williams syndrome?

A

Mild-moderate ID.
Heart problems.
Hyper sociability, hyperactivity, impulsivity, anxiety.
Strong drive and motivation for social interaction. Heightened sociability irrespective of familiarity.
Limited awareness of danger - vulnerability to exposure of dangerous or risky social situations.
Distinguishing facial features + short stature.

24
Q

What is one way of measuring social processing?

A

Eye tracking.

25
Q

How do autistic individuals process social information?

A

Klin (2002) - different eye gaze patterns - reduced looking towards eyes + increased looking at mouths, bodies + objects.
Fixation times on mouths and objects (but not eyes) predict social abilities.

26
Q

How are autism and Williams syndrome different in terms of social processing?

A

Riby (2008) - autism; much less looking at faces compared to other conditions. Williams syndrome; much more time - shows sociable nature of disorder.

27
Q

What four categories does social processing include?

A

Social attention, social orienting, emotion recognition + interpretation and theory of mind.

28
Q

What three categories does social development include?

A

Social interaction skills, social enjoyment and social motivation.

29
Q

What is the main NDD where social development is affected?

A

Angelman syndrome.

30
Q

How is Angelman syndrome caused?

A

Loss of genetic information at maternal chromosome 15q11-13.
Four genetic mechanisms involved in the UBE3A gene - deletion, mutation, uniparental disomy + imprinting defect.

31
Q

What are the main characteristics of Angelman syndrome?

A

Seizures.
Ataxic gait.
Smile much more than average - this is related to their environment. Smile more when next to a teacher or when gaining adult attention or when adult eye contact is present
Smiling is appropriate to the social setting - they are aware of the social context.

32
Q

How are sociability and aggression related in Angelman syndrome?

A

People with Angelman syndrome often show challenging behaviour from a young age.
Physical aggression is high (but not necessarily intentional!).
Aggression is much more likely to occur when receiving low attention.

33
Q

What is social anxiety?

A

Long lasting + overwhelming fear of social situations or performance situations.
Feared situation provokes anxiety. Situation is usually avoided or endured with intense anxiety and distress.

34
Q

How is Cornelia de Lange syndrome caused?

A

Deletions on chromosomes 4, 10 and X.

35
Q

What are the main characteristics of CdL syndrome?

A

Mild-severe ID.
Limited speech.
Small stature, upper limb abnormalities, distinctive facial features.

36
Q

In which two syndromes is the prevalence of autism particularly high?

A

Fragile X + CdLS.

Selective mutism prevalence is also particularly high for CdLS.

37
Q

What is one of the main features of CdLS?

A

Low verbalisation due to social anxiety.
For example, a study showed that down syndrome shows appropriate increase in verbalisation as social demand increases but this is not seen in CdLS due to an increase in social anxiety.
Another study showed that there was higher levels of hand movements when an interaction was occurring - social anxiety evidence.

38
Q

What is emotion regulation?

A

Automatic or intentional modification of a person’s emotional state that promotes adaptive or goal-directed behaviour.

39
Q

What can problems with emotion regulation lead to?

A
Difficulty using adaptive/appropriate emotion regulation strategies. 
Reacting impulsively (e.g. temper outbursts). There are often interpreted as deliberate or defiant but may be due to inadequate management of emotion.
40
Q

What is the main NDD linked to emotion regulation problems?

A

Woodcock (2011) - Prader-Willi syndrome; more likely to show aggression and temper outbursts compared to fragile X.
Fragile X tended to show higher levels of anxiety.

41
Q

What are the main NDDs linked to IQ problems?

A

Autism, TSC, NF1.

42
Q

What is the main NDD linked to social motivation problems?

A

Angelman syndrome.

43
Q

What is the main NDD linked to social anxiety problems?

A

CdLS.