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SK298 - Brain, the mind & mental health > Week 6 - Autism characteristics, diagnosis and prevalence > Flashcards

Week 6 - Autism characteristics, diagnosis and prevalence Flashcards

1
Q

What is meant by the term neurodiversity?

A

A term used to reflect the range of individual differences in brain function and behavioural traits which is used particularly in the context of autism

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2
Q

What type of condition is autism considered to be?

A

A neurodevelopmental condition

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3
Q

What is meant by the term neurodevelopmental condition?

A

A condition which reflects atypical development of the nervous system

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4
Q

What are the two core areas of difficulties used in the current framework for diagnosing autism?

A
  • Social communication
  • Non-social aspects of thinking and behaviour
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5
Q

What are the four types of conditions which are often co-morbid with autism?

A
  • Medical
  • Genetic
  • Neuro-developmental
  • Mental health
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6
Q

What medical conditons are often co-morbid with autism?

A
  • Gastrointestinal problems
  • Sleep disorders
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7
Q

In autistic people what is the prevalence of co-morbid medical conditions?

A

Around 30-50%, especially common in people with more severe autism

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8
Q

In autistic people, what is the most common co-morbid genetic condition?

A

Fragile X Syndrome

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9
Q

In autistic people, what is the prevalence of those with co-morbid neurodevelopmental conditions?

A

30-80% of autistic children also meet ADHD diagnostic criteria

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10
Q

What are the most common co-morbid neurodevelopmental conditions with autism?

A
  • ADHD
  • Dyslexia
  • Language difficulties
  • Intellectual disability
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11
Q

What are the most common co-morbid mental health conditions with autism?

A
  • Bipolar disorder
  • Schizophrenia
  • Depression
  • Anxiety
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12
Q

What is meant by the term biomarker?

A

A measurable genetic, biological, pathological or physical characteristic by which a particular disorder or condition can be reliably identified

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13
Q

Are there consistent and/or universal biomarkers for autism?

A

No

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14
Q

What is the ICD (International Classification of Diseases)?

A

A global classification system of all medical conditions based on symptoms and other criteria, as developed by the World Health Organisation

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15
Q

What is the purpose of the ICD?

A

To be a core reference for research, diagnosis and healthcare

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16
Q

What is the one overarching criterion which can be used for any and all autisim diagnoses?

A

If the observed symptoms are sufficient to undermine the individual’s functioning in everday life

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17
Q

What is meant by the term receptive language?

A

The process of receiving and understanding language which is spoken or written by othersq

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18
Q

What is meant by the term expressive language?

A

Language that a person produces, in either written or spoken form

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19
Q

In what year was autism first formally identified?

A

1944

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20
Q

What is an epidemiological study?

A

A study which is large-scale and designed to investigate the prevalence, distribution and/or causes or a health problem in one or more populations

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21
Q

Does an increase in the prevalence of autism mean that more people have the condition now?

A

No - it could just mean that we are diagnosing people who would have gone undiagnosed in the past

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22
Q

Is the prevalence of autism similar across cultures?

A

No, it varies widely

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23
Q

As prevalence rates for autism vary across countries, what could be a reason for this?

A

In some countries there may be fewer diagnoses due to the stigma surrounding it

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24
Q

What factors may account for why more boys are diagnosed with autism than girls?

A

It’s possible that current diagnostic criteria are more readily applied to male behaviour, or that autism in girls is less overtly expressed

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25
Q

What is a systematic review?

A

A research method involving evaluation of existing evidence for a particular topic or theory

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26
Q

How is a systematic review conducted?

A

Critical review of all relevant findings by other researchers

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27
Q

What is a meta-analysis?

A

A research method involving evaluation of existing evidence for a particular topic or theory

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28
Q

How is a meta-analysis conducted?

A

By pooling and stastically analysing the pooled findings from all relevant research by other researchers

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29
Q

What is a psychometric test?

A

A test which provides quantitative data of intellectual ability, language skills and other cognitive and behavioural traits

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30
Q

What kind of test is an example of a psychometric test?

A

An IQ test

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31
Q

What is meant by the term extraneous variables?

A

All variables that are present in an experimental study that are not the variables under investigation or being measured

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32
Q

What is meant by the term confounding variables?

A

These are extraneous variables in experiments which may affect the dependent variable, such that clear conclusions about the relationship between the independent and dependent variables cannot be drawn

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33
Q

What is meant by the term theory of mind (ToM)?

A

The ability to understand other people’s mental states, including the ability to understand that another person’s belief about an aspect of reality may be different from one’s own

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34
Q

In the field of psychology, what is meant by the term false belief?

A

A belief or representation about the world that may contrast with reality

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35
Q

Which researcher devised the “Sally-Anne” test and when?

A
  • Simon Baron-Cohen
  • in the 1980s
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36
Q

What was the “Sally-Anne” test investigating?

A

The Theory of Mind (ToM)

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37
Q

What is protodeclarative pointing?

A

The use of pointing to draw someone else’s attention to an object or item of interest, enabling an individual to share their interest with another

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38
Q

What is meant by the term executive function?

A

Mental processes that control behaviour - including initiating and planning actions, using working memory to implement actions in sequence, sustaining attention and context switching

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39
Q

What are the tasks which executive function is responsible for?

A
  • Initiating and planning actions
  • Using working memory to implement actions in sequence
  • Sustaining attention to the task in hand
  • Context switching
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40
Q

Are executive function difficulties unique to autism?

A

No

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41
Q

Which other condition encompasses difficulties with executive function?

A

ADHD

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42
Q

In the field of psychology, what is meant by the term systemising?

A

A flair for, or strong interest in, approaching fields or topics in a systematic or rule-following way

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43
Q

What is monotropism?

A

A trait in autism in which an individual focuses their attention on objects and topics that are of particular interest to the individual

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44
Q

What might be an unfortunate consequence of monotropism?

A

Highly selective learning

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45
Q

What is meant by the term twin method?

A

A research method used to investigate the relative importance of genetic and environmental factors to traits and conditions in human populations

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46
Q

What is meant by the term concordance rate?

A

It is the probability that pairs of individuals with shared genes will have the same trait or condition under investigation

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47
Q

In what year, and by which researchers, was the first twin study into autism published?

A
  • 1978
  • Folstein & Rutter
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48
Q

What did Folstein & Rutter’s 1978 study find?

A

A higher concordance rate of autism for identical twins compared to fraternal twins

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49
Q

What is meant by the term broader autism phenotype?

A

Milder manifestation of traits typical for autism, but not to the extent of meeting the diagnostic criteria

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50
Q

What is the broadly estimated rate of concordance rate for autism in identical twins today?

A

Identical twin concordance is estimated to be around 77%

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51
Q

What is the broadly estimated rate of concordance rate for autism in non-identical twins today?

A

Non-identical twin concordance is estimated to be around 36%

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52
Q

What is meant by the term sibling recurrence rate?

A

The probability of a child having or developing a condition when one or more of their siblings has that condition

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53
Q

Is there a specific gene related to autism?

A

No

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54
Q

Roughly how many regions of the genome have autism-linked variants?

A

14 regions

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55
Q

Are all the genetic mutations associated with autism equally ‘harmful’?

A

No, mutations can be either harmful or benign, depending on how many cells they affect in the body and how much they alter the corresponding protein’s function

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56
Q

What is a mosaic mutation?

A

One which affects only some of the cells in the body

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57
Q

Are the amount of genetic mutations associated with autism the same in both sexes?

A

No

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58
Q

What is an SNP?

A

Single Nucleotide Polymorphism - variations in individual nucleotides within a DNA sequence

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59
Q

What is a CNV?

A

Copy Number Variation - alterations in the number of copies of a larger DNA segment, potentially spanning multiple genes

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60
Q

What is the main difference between a SNP and a CNV?

A

SNPs affect single DNA bases whereas CNVs are mutations involving changes to whole sequences of bases

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61
Q

What is meant by the term de novo mutation?

A

It is a mutation which affects the offspring alone (i.e. was not inherited from a parent)

62
Q

What is meant by the term candidate genes?

A

Genes whose functions, or locations on particular chromosomes, indicate that they might be associated with a condition or disorder

63
Q

What is the most notable candidate gene with regards to autism?

A

CHD8

64
Q

What does the CHD8 gene code for?

A

Gene expression by chromatin remodelling

65
Q

What is chromatin remodelling?

A

The reararangement of chromatin from a condensed state to a transcriptionally accessible state

66
Q

What is the purpose of chromatin remodelling?

A

To allow transcription factors, or other DNA binding proteins, to access DNA and control gene expression

67
Q

What genes are the CHD8 gene thought to affect the expression of?

A

Those involved in fetal brain development

68
Q

Are CHD8 mutations present in all people with autism?

A

No

69
Q

What is meant by the term polygenic?

A

Mutations in multiple genes

70
Q

What does the term heterogenous mean?

A

Different combinations of gene mutations between different individuals and groups

71
Q

What rare, single-gene condition, is the most commonly co-morbid medical condition to autism?

A

Fragile X Syndrome

72
Q

Which gene is associated with Fragile X Syndrome?

A

FMR1

73
Q

Mouse models and post-mortem studies of patients with Fragile X Syndrome have discovered what changes?

A

Abnormal structure and number of dendritic spines

74
Q

What are dendritic spines?

A

Neuronal protrusions which recive input from excitatory synapses

75
Q

What is meant by the term non-syndromic autism?

A

Autism which is not associated with any non-autism condition

76
Q

In people with autism, mutations in which genes other than CHD8 have been discovered?

A
  • NRXN1
  • NLGN3
  • NLGN4
  • SHANK3
77
Q

Roughly, what is the function of the SHANK3 gene?

A

It plays a scaffolding function within cells and indirectly binds to neuroligin

78
Q

What is neuroligin?

A

A protein on the postsynaptic membrane which mediates the formation and maintenance of synapses between neurons

79
Q

Neurons in which region of the brain synthesise serotonin?

A

The Raphe nuclei

80
Q

Roughly, what are the processes that serotonin influences?

A
  • Regulating mood
  • Emotions
  • Aggression
  • Sleep
  • Body temperature
81
Q

Which part of the brain is serotonin critical in the development of?

A

The cortex

82
Q

What change has been noted in around 25% of children with autism’s blood?

A

Unusually high serotonin levels

83
Q

What protein does the SLC6A4 gene code for?

A

The serotonin transporter protein

84
Q

Where does the serotonin transporter protein transport serotonin from and to?

A

From the presynaptic cleft to the presynaptic neuron

85
Q

What is the end result of the action of serotonoin transporter protein?

A

Transporting serotoinin from the presynaptic cleft to the presynaptic neuron terminates the action of serotonin at the synapse

86
Q

Which protein terminates the action of serotonin at the synapse?

A

SLC6A4 - Serotonin transporter protein

87
Q

What is a key function of GABA?

A

GABA has the primary inhibitory effect in the brain

88
Q

What is a key function of glutamate?

A

It has an excitatory effect on post-synaptic neurons and is considered crucial in neural plasticity and cognitive functions such as learning and memory

89
Q

Which neurotransmitter is considered crucial in neural plasticity and cognitive functions such as learning and memory?

A

Glutamate

90
Q

Which neurotransmitter has the primary inhibitory effect in the brain?

A

GABA

91
Q

Abnormal levels of GABA and glutamate have been reported in persons with which condition?

A

Autism

92
Q

An atypical trajectory of brain growth has been noted in persons with which condition?

A

Autism

93
Q

Roughly what percentage of children with autism were noted to have an aytpical brain growth trajectory?

A

20%

94
Q

What is the approximate age range for when excess brain growth may be observed in children who are later diagnosed with autism?

A

From six months to four years

95
Q

Which areas of the brain has excess brain growth in perons with autism especially noticeable in?

A

Frontal and temporal lobes

96
Q

As well as the frontal and temporal lobes, atypical brain growth in persons with autism has also been found in which other areas?

A
  • Amygdala
  • Cerebellum
97
Q

The amygdala forms an integral part of which system?

A

The limbic system

98
Q

The amygdalae play a key role in what functions?

A

Forming and storing memories associated with emotional events

99
Q

As well as movement, what other functions is the cerebellum involved in?

A
  • Language
  • Attention
  • Mental imagery
100
Q

Dendritic pruning failing to occur, or being substantially reduced during a critical period of development has been found in persons with which condition?

A

Autism

101
Q

What is the effect of reduced or absent dendritic pruning?

A

Excess neurons and neuronal connections, meaning that circuits which operate in an inefficient way

102
Q

In some autistic children, the prefrontal cortex shows how much more brain tissue?

A

67%

103
Q

What are the four brain regions in which excess brain growth in patients with autism is especially marked?

A
  • Frontal lobes
  • Temporal lobes
  • Amygala(e)
  • Cerebellum
104
Q

Higher neuronal hyperconnectivity in persons with autism are associated with what problem?

A

Greater daily living challenges

105
Q

What is the association cortex?

A

The regions located in all lobes of the cortex that, through their interlinking, support high level integrative activites (eg comparing sensory inputs to stored memories)

106
Q

Which part of the brain is associated with comparing sensory inputs to stored memories?

A

The association cortex

107
Q

Limbic structures support which key functions?

A
  • Emotional recognition and expression
  • Memory
  • Motivation
  • Olfaction
108
Q

What are the structures which form the limbic system?

A
  • Amygala
  • Hippocampus
  • Thalamus
  • Hypothalamus
109
Q

What is the core structure of the paralimbic system?

A

The amygdala

110
Q

What functions are controlled by the orbitofrontal cortex?

A
  • Decision making
  • Processing the emotional aspects of decision making
  • Understanding other people’s emotions
111
Q

Where is the orbitofrontal cortex located?

A

Within the frontal lobes

112
Q

What does the left hemispheric gyrus play a key role in?

A

The processing of speech, language and gesture

113
Q

Altered function of the inferior frontal gyrus is implicated in what type of problems?

A

Difficulties with both verbal and non-verbal communication

114
Q

What functions does the posterior parietal cortex play a role in?

A
  • Spatial awareness (e.g. perceiving and remembering where objects are located)
  • Controlling eye movements
  • Maintaining attention
115
Q

Enhanced skills in visual tasks in persons with autism may be as a consequence of atypical activation in which brain region?

A

Posterior parietal cortex

116
Q

Around which other structure of the brain does the cingulate gyrus wrap around?

A

The corpus callousm

117
Q

What does the anterior part of the cingulate gyrus play a role in?

A
  • Coordinating sensory stimuli with emotions
  • Emotional expression and bonding
  • Regulating aggressive behaviour
  • Decision making
118
Q

What is the posterior part of the cingulate gyrus involved in?

A
  • Processing the spatial orientation of objects
  • Mediating between emotions and memories
119
Q

Altered function of the cingulate gyrus may lead to what symptoms in those with autism?

A
  • Social and emotional challenges
  • Repetitive behaviour
120
Q

Behind which other structures does the anterior cingulate cortex lay?

A

The frontal lobes

121
Q

What functions is the anterior cingulate cortex involved in?

A
  • Coordinating sensory stimuli with emotions
  • Emotional expression and bonding
  • Regulating aggressive behaviour
  • Decision making
122
Q

Where is the superior temporal sulcus located?

A

Within the outer surface of each temporal lobe

123
Q

The anterior part of the superior temporal sulcus is involved in which function?

A

Processing speech

124
Q

The posterior part of the superior temporal sulcus is involved in which function?

A
  • Processing faces
  • Movement
  • Direction of gaze
  • Integrating audio and visual information
125
Q

Atypical function of the superior temporal sulcus has been implicated in which type of difficulties in autism?

A

Social and theory-of-mind difficulties

126
Q

The fusiform gyrus spans the lower part of which parts of the brain?

A
  • Temporal lobes
  • Occipital lobes
127
Q

Atypical function of the fusiform gyrus is linked with which two neurological conditions?

A
  • Prosopagnosia
  • Synaesthesia
128
Q

Within which brain structure is the amygdala located?

A

The medial temporal lobe

129
Q

Which system of the brain is the amygdala integral to?

A

The limbic system

130
Q

Through which structures does the amygdala coordinate its activities?

A
  • Prefrontal cortex
  • Cingulate gyrus
  • Thalamus
  • Hypothalamus
  • Hippocampus
131
Q

What difficulties in autism have been linked to atypical function of the amygdala?

A
  • Anxiety
  • Emotional regulation
132
Q

What region of the brain is adjacent to the amygdala?

A

The bilateral hippocampus

133
Q

The hippocampus works as part of which system of the brain?

A

The limbic system

134
Q

What does the hippocampus play a key role in?

A

Storing and retrieving memories for personal experiences and factual information

135
Q

Atypical function of the hippocampus may lead to what difficulties in autism?

A

Recalling or acting upon peronally salient events

136
Q

Which structure lies below the thalamus?

A

The hypothalamus

137
Q

The hypothalamus is part of which brain system?

A

The limbic system

138
Q

The hypothalamus is involved in the release of which pituitary hormones?

A
  • Oxytocin
  • Vasporessin
139
Q

What is the role of the hypothalamus?

A

Controlling emotional expression

140
Q

Atypical function of the hypothalamus may lead to what difficulties in autism?

A
  • Social interaction
  • Emotional
141
Q

Which structure does the bilateral thalamus lay close to?

A

The amygdala

142
Q

What is the role of the thalamus?

A
  • Processing and relaying sensory information to cortical areas
  • Relaying cortical feedback to movement areas
  • Controlling attention
  • Sleep
  • Wakefulness
143
Q

Atypical function of the thalamus may lead to which difficulties in autism?

A
  • Regulation of social behaviour
  • Sensory hyper/hypo-sensitivity
  • Sleep disturbances
144
Q

What structures does the cerebellum lay below?

A
  • Temporal lobes
  • Occipital lobes
145
Q

The cerebellum lays posterior to which other brain structure?

A

The brain stem

146
Q

What is the function of the cerebellum?

A
  • Generating and controlling motor movements
  • Vocalising sounds
  • Attention
  • Mental imagery
147
Q

What is atypical function of the cerebellum linked with in autism?

A

Compromised development of social communication skills and executive function

148
Q

The pons is part of which structure of the brain?

A

Brain stem

149
Q

The pons relays information from where to where in the brain?

A

To and from the cerebellum, cerebrum and spinal cord

150
Q

The basal ganglia are structures in which area of the brain?

A

The mid-brain

151
Q

Atypical function of the basal ganglia in autism may lead to what difficulties?

A

Impeded action selection and difficulty in engaging with others

SK298 - Brain, the mind & mental health (19 decks)

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