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Developmental 2 > Atypical Development and Neurodevelopmental Disorders > Flashcards

Atypical Development and Neurodevelopmental Disorders Flashcards

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1
Q

what is a neurodevelopmental disorder?

A

apparent early in childhood; affect all major developmental systems; development of CNS atypical; causes can differ

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2
Q

what can cause neurodevelopmental disorders?

A

genetic disorders; toxic environmental factors; severe deprivation; congenital injury

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3
Q

give some examples of neurodevelopmental disorders

A

autism; ADHD; intellectual disability; fetal alcohol spectrum disorder; cerebral palsy; genetic disorders associated with intellectual disability eg. down syndrome, fragile x

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4
Q

what IQ score is associated with a mild intellectual disability?

A

50-70

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5
Q

what IQ score is associated with a moderate intellectual disability?

A

35-49

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6
Q

what IQ score is associated with a severe intellectual disability?

A

20-34

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7
Q

what IQ score is associated with a profound intellectual disability?

A

<20

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8
Q

what is the prevalence of autism?

A

1% of general pop, more common in males

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9
Q

what are the social-communication skills influenced by autism?

A

building friendships; reciprocity; initiating and maintaining; emotions; poorly integrated verbal and nonverbal communication; eye contact; gestures; facial expressions

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10
Q

what are some examples of repetitive behaviours and restricted interests in autism?

A

repetitive motor movements insistence on sameness; restrictive interests; repetitive speech; compulsive behaviours

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11
Q

when is autism usually present from?

A

childhood - but not always diagnosed at this time

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12
Q

what are other factors influencing autism?

A

temperament; environment; cognition

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13
Q

what is the prevalence of tuberous sclerosis?

A

1: 6,000 - 11,400

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14
Q

for tuberous sclerosis, where is the gene mutation?

A

TSC1 gene (chromosome 9) 15-20; or TSC2 gene (chromosome 16) 60-70%

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15
Q

what is the percentage of epilepsy in individuals with tuberous sclerosis?

A

80-90%

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16
Q

what is the percentage of intellectual disability in individuals with tuberous sclerosis?

A

40-65%

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17
Q

what is the prevalence (word-wise) of autism in individuals with tuberous sclerosis?

A

high

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18
Q

describe the verbal comprehension in Neurofibromatosis1

A

generally preserved

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19
Q

describe the non-verbal, working memory and processing-speed abilities in Neurofibromatosis1

A

lower than TD norms

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20
Q

describe the relationship between global IQ and cognitive phenotype of Neurofibromatosis1

A

global IQ is inadequate for describing the cognitive phenotype

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21
Q

define attentional control

A

individual’s capacity to choose what they pay attention to and what they ignore: attention shifting and inhibition

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22
Q

in typically developing children, at what age can attention shifting and focusing be observed?

A

six to nine months

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23
Q

in what two neurodevelopmental disorders is attention shifting characteristically impaired?

A

fragile X syndrome and Prader Willi syndrome

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24
Q

what is the prevalence of Fragile X syndrome?

A

1:4,000 - 1:6,000

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25
what is the mutation for Fragile X syndrome?
X chromosome: FMR1 gene, CGG repeat expansion
26
what is the intellectual disability for fragile X syndrome?
moderate to severe
27
what are some characteristics of Fragile X syndrome?
autism characteristics, averted eye gaze, repetitive behaviour
28
what is the earliest and most impairing feature of Fragile X syndrome, and when do they present?
attention problems, presenting in early infancy and toddlerhood
29
what percentage of males with Fragile X syndrome meet behavioural ADHD diagnostic criteria, and what percentage receive attention-related diagnoses or treatment ?
54-74%, with over 80% receiving attention related diagnoses/treatment
30
what do studies of Fragile X syndrome report impairment tin?
inhibition and visual attention switching
31
what is the prevalence of Prader-Willi syndrome?
1:10,000 - 1:15,000
32
what is the mutation for Prader-Willi syndrome?
chromosome 15,q11-q13. paternal deletion (70%); maternal unipaternal disomy (25%); imparting abnormality (2.5%)
33
what is the intellectual disability for Prader-Willi syndrome?
shift in IQ distribution by approx. 40 points
34
what are some characteristics of Prader-Willi syndrome?
physical phenotype; hyperphagia; temper outbursts; repetitive behaviour; deficits in inhibition
35
describe the Simon Task
participants press the left button when they see a blue circle and the right button when they see a green circle. location of the stimulus presents an interference to correct response
36
what were the results on the Simon task for children with PWS and FXS compared to TD children?
PWS and FXS showed greater costs of attention switching especially on congruent trials
37
in the Simon task, longer reacion time in an attention switching paradigm was positively correlated with what?
repetitive questioning and adherence to routine but not other repetitive behaviours
38
what is social attention?
cognitive process that underlies gazing at or with another person
39
what is social orienting?
preference for social vs non-social info
40
what is emotion recognition and interpretation:
recognise and understand facial expressions of emotion
41
what is theory of mind?
ability to understand other's thoughts and desires
42
what is the mutation causing Williams syndrome?
micro deletion of 26-28 genes on chromosome 7q11.23
43
what is the prevalence of Williams syndrome?
1:7,500
44
what is the intellectual disability in Williams syndrome?
mild-moderate
45
what are some physical characteristics of Williams syndrome?
distinguishing facial features; short stature
46
what are some health and sensory issues that come with Williams syndrome?
heart problems; hyperacusis
47
what are some behavioural features of Williams syndrome?
hypersociability; hyperactivity; impulsivity; anxiety
48
what does Williams syndrome impair?
social reciprocity, skills and understanding and often experience social isolation and difficulties maintain friendships. limited awareness of danger - vulnerability
49
how do autistic individuals view and process social info different to neurotypical individuals?
preference for information; discriminate emotional face expressions; location of social information/cues (eyes vs mouth)
50
what do the differences in processing of social info between autistic and neurotypical individual result in differences in?
social input; social-communicative leaning; understanding and interpretation of the social world
51
what do autistic individuals tend to show when viewing naturalistic social situations in terms of eye tracking?
different eye gaze patterns; reduced looking towards the eyes and increased looking toward mouths, bodies and objects but not on eyes social abilities
52
what is the definition of sociability?
an umbrella term encompassing various aspects of social functioning: social interaction skills; social enjoyment; social motivation
53
what implications can a deficit in the different aspects of social functioning lead to?
employment; friendships; quality of life
54
what is the prevalence of Angolan Syndrome?
1:10,000 - 1:40,000
55
what is the cause of Angelman Syndrome?
loss of genetic info at maternal chromosome 15q11-13. four genetic mechanisms involving the UBE3A gene: deletion (70-75%); mutation (5%); uniparetnal disomy (2%); imparting defect (2%)
56
what are some characteristics some of Angelman Syndrome?
seizures, atavic gait
57
in what percentage of cases of Angelman Syndrome is sociability noted?
88%
58
what is social anxiety?
long lasting and overwhelming fear of social situations or performance situations. exposure to the feared situation provokes anxiety. feared situations are avoided or endured with intense anxiety and/or distress. interfere with every day functioning
59
what is the prevalence of Cornelia de Lange syndrome?
1:10,000 - 1:40,000
60
what is the cause of Cornelia de Lange syndrome?
deletions on chromosomes 5,10 and X
61
what are the main features of Cornelia de Lange syndrome?
mild/moderate to severe ID; small stature; upper limb abnormalities; distinctive facial features; gastroesophageal reflux; limited speech; hirsute; SIB
62
what is emotional regulation?
automatic or intentional modification of person's emotional state that promotes adaptive or goal-directed behaviour
63
what are some problems with emotional regulation?
difficulty using adaptive/appropriate emotion regulation strategies. react impulsively to emotional stimuli (tempter outburst, aggression or self injury). often interpreted as deliberate or defiant but may be due to inadequate management of emotion

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