Atypical Development and Neurodevelopmental Disorders Flashcards
what is a neurodevelopmental disorder?
apparent early in childhood; affect all major developmental systems; development of CNS atypical; causes can differ
what can cause neurodevelopmental disorders?
genetic disorders; toxic environmental factors; severe deprivation; congenital injury
give some examples of neurodevelopmental disorders
autism; ADHD; intellectual disability; fetal alcohol spectrum disorder; cerebral palsy; genetic disorders associated with intellectual disability eg. down syndrome, fragile x
what IQ score is associated with a mild intellectual disability?
50-70
what IQ score is associated with a moderate intellectual disability?
35-49
what IQ score is associated with a severe intellectual disability?
20-34
what IQ score is associated with a profound intellectual disability?
<20
what is the prevalence of autism?
1% of general pop, more common in males
what are the social-communication skills influenced by autism?
building friendships; reciprocity; initiating and maintaining; emotions; poorly integrated verbal and nonverbal communication; eye contact; gestures; facial expressions
what are some examples of repetitive behaviours and restricted interests in autism?
repetitive motor movements insistence on sameness; restrictive interests; repetitive speech; compulsive behaviours
when is autism usually present from?
childhood - but not always diagnosed at this time
what are other factors influencing autism?
temperament; environment; cognition
what is the prevalence of tuberous sclerosis?
1: 6,000 - 11,400
for tuberous sclerosis, where is the gene mutation?
TSC1 gene (chromosome 9) 15-20; or TSC2 gene (chromosome 16) 60-70%
what is the percentage of epilepsy in individuals with tuberous sclerosis?
80-90%
what is the percentage of intellectual disability in individuals with tuberous sclerosis?
40-65%
what is the prevalence (word-wise) of autism in individuals with tuberous sclerosis?
high
describe the verbal comprehension in Neurofibromatosis1
generally preserved
describe the non-verbal, working memory and processing-speed abilities in Neurofibromatosis1
lower than TD norms
describe the relationship between global IQ and cognitive phenotype of Neurofibromatosis1
global IQ is inadequate for describing the cognitive phenotype
define attentional control
individual’s capacity to choose what they pay attention to and what they ignore: attention shifting and inhibition
in typically developing children, at what age can attention shifting and focusing be observed?
six to nine months
in what two neurodevelopmental disorders is attention shifting characteristically impaired?
fragile X syndrome and Prader Willi syndrome
what is the prevalence of Fragile X syndrome?
1:4,000 - 1:6,000
what is the mutation for Fragile X syndrome?
X chromosome: FMR1 gene, CGG repeat expansion
what is the intellectual disability for fragile X syndrome?
moderate to severe
what are some characteristics of Fragile X syndrome?
autism characteristics, averted eye gaze, repetitive behaviour
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
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
what do studies of Fragile X syndrome report impairment tin?
inhibition and visual attention switching
what is the prevalence of Prader-Willi syndrome?
1:10,000 - 1:15,000
what is the mutation for Prader-Willi syndrome?
chromosome 15,q11-q13. paternal deletion (70%); maternal unipaternal disomy (25%); imparting abnormality (2.5%)
what is the intellectual disability for Prader-Willi syndrome?
shift in IQ distribution by approx. 40 points
what are some characteristics of Prader-Willi syndrome?
physical phenotype; hyperphagia; temper outbursts; repetitive behaviour; deficits in inhibition
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
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
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
what is social attention?
cognitive process that underlies gazing at or with another person
what is social orienting?
preference for social vs non-social info
what is emotion recognition and interpretation:
recognise and understand facial expressions of emotion
what is theory of mind?
ability to understand other’s thoughts and desires
what is the mutation causing Williams syndrome?
micro deletion of 26-28 genes on chromosome 7q11.23
what is the prevalence of Williams syndrome?
1:7,500
what is the intellectual disability in Williams syndrome?
mild-moderate
what are some physical characteristics of Williams syndrome?
distinguishing facial features; short stature
what are some health and sensory issues that come with Williams syndrome?
heart problems; hyperacusis
what are some behavioural features of Williams syndrome?
hypersociability; hyperactivity; impulsivity; anxiety
what does Williams syndrome impair?
social reciprocity, skills and understanding and often experience social isolation and difficulties maintain friendships. limited awareness of danger - vulnerability
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)
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
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
what is the definition of sociability?
an umbrella term encompassing various aspects of social functioning: social interaction skills; social enjoyment; social motivation
what implications can a deficit in the different aspects of social functioning lead to?
employment; friendships; quality of life
what is the prevalence of Angolan Syndrome?
1:10,000 - 1:40,000
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%)
what are some characteristics some of Angelman Syndrome?
seizures, atavic gait
in what percentage of cases of Angelman Syndrome is sociability noted?
88%
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
what is the prevalence of Cornelia de Lange syndrome?
1:10,000 - 1:40,000
what is the cause of Cornelia de Lange syndrome?
deletions on chromosomes 5,10 and X
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
what is emotional regulation?
automatic or intentional modification of person’s emotional state that promotes adaptive or goal-directed behaviour
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
