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Atypical Brain Development and Neurodegeneration > Introduction to Atypical Brain Development, Autism and Fragile X > Flashcards

Introduction to Atypical Brain Development, Autism and Fragile X Flashcards

1
Q

What are neurodevelopmental conditions

A

any condition that is associated with atypical brain development

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2
Q

What are the 3 stages of diagnosis?

A

Step 1- Referral- Neurodevelopmental conditions are often not diagnosed at birth, instead being brought in to a GP for diagnosis by your parents/after not meeting certain milestones.
Step 2- Formal Assessment- Diagnosis is usually made by a clinical professional
Step 3- Post Diagnostic Support- e.g. school support/healthcare support

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3
Q

What are the different arms of a chromosome?

A

P arm at the top, Q below.

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4
Q

What is downs syndrome caused by?

A

caused by a 3rd copy of the 21st chromosome

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5
Q

Name 4 effects of Downs

A

physical differences (such as specific facial features, growth delays etc.), social differences and intellectual disabilities. The large tongue commonly seen with downs can also cause breathing troubles.

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6
Q

What causes Williams Syndrome?

A

is due to deletion of the 11.23 region on the Q arm of the 7th chromosome being deleted.

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7
Q

What are the 4 chromosomal abnormalities/mutations?

A

deletion, duplication, substitution, inversion, translocation.

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8
Q

What causes Sotos syndrome

A

mutations on the NSD1 gene on chromosome 5.

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9
Q

What are the cardinal features of Sotos Syndrome

A
  • overgrowth in the first years of life.
  • taller/heavier stature and larger heads than peers
  • It can also involve intellectual disability.
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10
Q

What are the main symptoms of Prader Willis Syndrome? (7 physical, 2 psychological)

A
  • persistent and constant hunger/overeating
  • learning disability
  • slow growth in childhood
  • persistent short stature
    -imbalances in growth hormones
  • poor muscle tone
  • poor body temperature regulation,
  • susceptibility to mood disorders and OCD
    -some social deficits
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11
Q

What are the gh cardinal features of Prada Willis syndrome?

A
  • individuals with this syndrome feel constantly hungry, so are often more susceptible to obesity
  • Persistent over-eating
  • slow growth in childhood and persistent short stature
  • Imbalances in growth hormones
  • Poor muscle tone and body temperature regulation
  • Poor emotional stability, some social defecits and susceptibility to mood disorders.
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12
Q

What causes Prader-Willis Syndrome?

A

Loss of expression of paternal genes from chromosome 15q11.2-15q13

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13
Q

What is Rett’s Syndrome caused by? (Genes and Chromosomes)

A

A mutation within the methylcytosine-binding protein 2 gene (MECP2 gene)- which is found on the X chromosome.

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14
Q

What are the cardinal symptoms of Rett’s Syndrome?

A

It causes severe motor and language difficulties (i.e. muscle rigidity and mute) -often leaving the individuals acute

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15
Q

Why does Rett’s Syndrome only affect girls?

A

The mutation that causes Rett’s Syndrome occurs on the X chromosome, when it occurs in XY foetuses, the pregnancy would not survive to term.

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16
Q

Is Autism genetically or environmentally based?

A

Genetically

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17
Q

How many genes have been related to autism?

A

thousands

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18
Q

Why is it difficult to diagnose autism just based on genes alone?

A
  • We are not sure whether it is more linked to rare genetic mutations or rare combinations of common genetic variants
  • Tests for autism are behavioural- not genetic
  • Interaction of genes and environment could affect development of autism
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19
Q

I don’t mean to be a bitch but I refuse to write that shit about reframing language

A
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20
Q

What are the 6 most used methods for studying NDCs?

A
  • Prevalence Studies
  • Behavioural observation
  • Parent-Teacher Questionnaire
  • Behavioural Experiments (Eye Tracking, cognitive experiments)
  • Brain Scans (fMRI/EEG)
  • Semi-Structured Interviews
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21
Q

What is the medical model/approach of autism?

A

Autism is a disability causing difficulties in a range of areas

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22
Q

What is the social model/approach of autism?

A

Autism is only a disability as autistic people are forced to live in a neurotypical world

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23
Q

When was the first case of autism (even if it wasn’t called that)?

A

in 1943, Kamner discovered a group of children who experienced extreme aloneness, shyness and delayed language

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24
Q

When was Autism first included in the DSM?

25
What is the ADOS-G and when was it first published?
Autism Diagnosis Observation Schedule- Generic, 2000
26
When was Asperses dropped from the DSM?
2013
27
What are the 3 features of the triad of impairment in Autism (the three cardinal factors that feed into each other)
Socialisation, Imagination, communication
28
What are similar/often co-diagnoised disorders with Autism?
Asperges, child degenerative disorder, pervasive developmental disorder not otherwise specified,
29
What are the diagnostic criteria for Autism?
Deficits in social-emotional reciprocity, deficits in communication, restricted/repetitive behaviour/interests.
30
How does IQ interact with Autism?
It is, like autism itself, a spectrum, and can range for any autistic individual from low (IQ<60) to average (IQ=100) to high (IQ>130)
31
What percentage of people with Autism also have intellectual disabilities
Around 50%
32
What is the ratio of boys with autism to girls with autism?
4:1
33
What is the ratio of boys with Asperger's to girls with Asperger's?
10:1
34
What is the CAT-Q? What are it's 3 subcategories?
The camouflaging autistic traits questionnaire Compensation- finding ways around social and communication difficulties Masking Assimilation- changing to help you fit in
35
What are 2 differences between autism between girls and boys?
Diagnosis tends to occur later for women ( because models and theories for diagnosis are all based on male-participant-only research) Number of women diagnosed (5 males: 1 Female in childhood, 2 Males: 1 female for adulthood)
36
What is the double hermenuetic process in assessing Autism?
Clinicians acknowledge that people with ASC have different experiences and perspective to their own
37
How have semi-structured interviews been used to understand autism diagnoses ?
We use bottom-up analysis and find themes without previous misconceptions We gather themes based on recommended questions, common themes include: - Process of acceptance - Hiding the condition - Post diagnostic reactions from other - Changes in identity and self-concept after diagnosis
38
What are potential benefits of ASC diagnosis?
Can shift someone's feelings from senses of powerlessness to agency- diagnosis should not rely on the reports of others
39
40
What does white matter contain?
Axons that connect different parts of grey matter to each other
41
What are some of the neural features of ASC?
Local circuitry over-connectivity Long distance circuitry under-connectivity Disruptions in connections between cortical regions High physical connectivity but low communicative connectivity - possibly causing issues differating signals/cues from noise (Belmonte 2004) Difficulty with information integration Cognitive State biased towards local, rather than global info.
42
What were O'Reilly 2017's findings on frequency and activity in ASC brains?
There is more activity in higher frequency bands/cerebral circuits Lower activity in lower frequency bands
43
What are the 4 main features in difference in Cognitive Profile in ASC?
Poorer Theory of Mind (Baron-Cohen 1985)- usually tested with false belief tasks Executive Function- i.e. planning and impulse control Weak Central Coherence- Local not global perception, often not integrating childhood Enhanced Perceptual Function
44
what were Kimchi et al 2014's findings on executive function and theory of mind in autism?
Autistic struggle more on tests measuring these features (i.e. the flexible item selection task, the tower of London task (planning), The Unexpected Location Task (predicting and explaining knowledge) and affective belief tasks (Predicting and explaining emotions) Higher Executive Functioning, Cognitive Shifting, and verbal IQ are predictive/related to better theory of mind Language ability predicts performance on theory of mind tests Therefore speech training and Executive Functioning training can support better theory of mind
45
What is Enhanced Perceptual Functioning Theory in people with ASC?
ASC perception is locally oriented Higher-order processing is optimal in ASC people, but not for neurotypicals Atypical Perception underlies savant syndrome
46
How common is fragile X syndrome?
It affects 1 in 4000 men and 1 in 6000 women
47
What are the main features of Fragile X Syndrome?
- Impacts cognitive ability - less severe symptoms in girls, as the 2nd X chromosome with non-mutated genes mitigates the original genes effects - It is identifiable at 3-4 years via DNA blood test (average age of diagnosis) - Has many distinct physical (i.e. long narrow face, prominent jaw and ears and flat feet), psychological and neural features
48
What is the cause (genetic) of fragile X syndrome?
A mutated FMRI gene, on the X chromosome, is repeated, creating a "gap" in the Q arm- therefore creating an expansion of the CGG repeat. The full mutation is usually 200-2000 repeats of the CGG gene
49
What are some neural differences in people with fragile X syndrome?
- More grey matter in the caudate thalamus and fusiform gyri - Reduced grey matter volume in cerebellar vermis - More white matter in striatal-prefrontal regions - Early alterations in neurodevelopment and synaptic pruning
50
What are the main physical features in fragile X syndrome?
long narrow face, prominent jaw and ears and flat feet
51
What are the main psychological features of fragile X syndrome? (Many are very similar to ADHD)
- Short attention span and distractibility - Impulsivity and restlessness - Hyperactivity - Sensory Issues - Social difficulties - Emotional and communication difficulties
52
What are the most common comorbidities of Fragile X syndrome?
Dual diagnosis of Fragile X and other NDCs are common as 50-90% have ASC symptoms and 25-80% have an ASC diagnosis. 54-59% have ADHD diagnoses, and epilepsy is a common comorbidity
53
What are common strengths of people with FXS?
Imitation, Visual Learning, Personability
54
What is the cognitive and behavioural profile of fragile X syndrome? (in men)
Mean IQ 40 Communication impairments Hyperactivity and inattention Impulsivity Hyperarousal Anxiety
55
What is the cognitive and behavioural profile of fragile X syndrome ? (in women)
IQ 70+ social and emotional difficulties anxiety and depression
56
What are the first signs of a child having fragile X syndrome?
Motor atypicalities at 9-12 months Decreased object play Atypical posturing Prolonged Visual Attention to objects Missing developmental milestones
57
How do we measure atypical childhood behaviour typical of NDCs?
Adaptive Behaviour Tests - Semi-structured interviews with parents, addressing communication, daily living, socialisation, motor skills
58
What comorbidities can fragile X be linked to in men?
Intellectual disability, autism, ADHD
59

Atypical Brain Development and Neurodegeneration (6 decks)

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