Lecture 1 - Neurodevelopmental Disorders Flashcards

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1
Q

What is a neurodevelopmental disorder?

A

Any condition of a genetic or multi factorial origin that result in one or more specific cognitive differences.
These differences are present early in life and extend to adult life without showing relapse or remission.

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2
Q

What is cognition?

A

How we think and learn e.g. language, attention, memory, reasoning.

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3
Q

What is behaviour?

A

How we act and interact.

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4
Q

What is not a neurodevelopmental condition?

A

Any condition that you had in childhood but not now.
Any condition that has developed now that you didn’t have in childhood.

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5
Q

What are some examples of neurodevelopmental disorders?

A

Autism, Williams Syndrome, Sotos Syndrome, Fragile X Syndrome, Downs Syndrome, ADHD, Rett Syndrome, Prader-Willi Syndrome.

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6
Q

What is the diagnostic process for neurodevelopmental conditions?

A

Step 1: Referral from a GP or health visitor - usually happens when a doctor sees the child is missing milestones.
Step 2: Formal assessment on the NHS - diagnosis usually made by clinical psychologist or clinical geneticist. This may be a multi-disciplinary diagnostic assessment.
Step 3: Post-diagnostic support e.g. in school support such as speech and language therapy/classroom assistance via an Education, Health and Care Plan (EHCP).

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7
Q

What is a chromosomal condition?

A

Any condition that is caused by a change to the structure or number of chromosomes. Could be due to a deletion or duplication of chromosomal material.

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8
Q

What is the cause of Downs Syndrome?

A

All of or part of a third copy of chromosome 21. It is the most common chromosome abnormality in humans.

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9
Q

What are the characteristics of Downs Syndrome?

A

Physical growth delays, a particular set of facial characteristics and intellectual disability.

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10
Q

What is the cause of William’s Syndrome?

A

A deleted region on the chromosome 7. This region is not the same for everyone and it may be that a part of the chromosome is flipped or a substitution.

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11
Q

What is the cause of Sotos Syndrome?

A

Mutations in the NSD1 gene on chromosome 5.

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12
Q

What are the characteristics of Sotos Syndrome?

A

Physical overgrowth during the first years of life. They are often taller, heavier and have larger heads than peers. They also often have intellectual disabilities.

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13
Q

What is the cause of Prader-Willi Syndrome?

A

Loss of expression of paternal genes from chromosome 15p11.2-q13.

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14
Q

What are the characteristics of Prader-Willi Syndrome?

A

Trouble with feeding until age 4 when they start to overeat which leads to obesity - they are fooled into thinking they are still hungry. They may have minor intellectual issues and have a relative growth hormone deficiency. They may also have obsessive behaviour, poor body temperature, poor muscles etc.
They are able to express themselves relatively well.

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15
Q

What is the cause of Rett Syndrome?

A

Mutation within the MECP2 gene located on the X chromosome.

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16
Q

What are the characteristics of Rett Syndrome?

A

It affects girls brains so they can’t talk and struggle to do simple things. They are ‘trapped’ - their brain is not connecting to their limbs.

17
Q

What is the cause of Autism?

A

It has a complex genetic basis as 1000s of genes are implicated. It is unclear whether autism is explained more by rare mutations or rare combinations of common genetic variants.

18
Q

Why can ‘disorder’ be an appropriate term?

A

It acknowledges the impact of a disability.
It is a potentially accurate description of the individuals/family’s experience.
Not using the term may be seen as trivialisation.

19
Q

Why can ‘disorder’ by an inappropriate term?

A

There are negative connotations that produce stigma surrounding the term.
May cause prejudice.
‘Condition’ may be a more accurate term.
It often focuses on negative traits and not strengths.

20
Q

What is neurodiversity?

A

It is an approach to learning and disability that suggests diverse neurological conditions appear as a result of normal variations in the genome.
Neurological differences should be recognised and respected as a social category.

21
Q

What methods are used for studying neurodevelopmental conditions?

A

Population based prevalence studies.
Behavioural observation.
Parent/teacher questionnaires.
Behavioural experiments e.g. eye tracking, standardised cognitive experiments.
Cognitive neuroscience experiments e.g. fMRI, EEG.
Semi-structured interviews.

22
Q

Why is it important to adopt the neurodiversity approach?

A

It will change the focus and purpose of research:
It will focus on the strengths and talents of neurodiverse people.
There will be an interest in understanding the attitudes of neurotypical individuals and organisations towards neurodiverse people and how these attitudes create risk for stigma.
Neurodiverse people will collaborate more in studies.

23
Q

Why are neurodevelopmental conditions important to study?

A

It can better our understand and inform better diagnosis.
It can lead to more successful interventions.
It can also tell us more about typical development.

24
Q

What are the issues involved with studying neurodevelopmental conditions?

A

Need to adopt a developmental approach because the brain changes over time and subtle differences can impact the development of cognitive abilities.
Not always possible to investigate which domain-general abilities can affect cognitive ability later in development due to some conditions not being able to be diagnosed early in development.
Few models take environmental issues into account.
Neurodevelopment conditions are rare.
Even when genetic origins of a condition are known, the genetic mutations often vary widely so diagnosis may be hard.
There is large variability in cognitive and behavioural outcomes within specific neurodevelopmental conditions.
There is also a lot of co-morbidity e.g. DS have memory issues and get Alzheimer symptoms as young as 40 - What is the memory issues due to?

25
Q

What is Morton and Frith’s (1995) model?

A

Incorporates biological, cognitive and behavioural levels to explain neurodevelopmental conditions.
Suggests environmental factors are likely to affect all levels of development and are likely to affect outcomes for intervention.
Not many models look at the affect of the environment on neurodevelopmental conditions.

26
Q

What are some of the effects of ableism on autistic people?

A

Underemployment, mental health conditions, and victimisation.