Lecture 1 - Neurodevelopmental Disorders

Question 1

What is a neurodevelopmental disorder?

Answer 1

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.

Question 2

What is cognition?

Answer 2

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

Question 3

What is behaviour?

Answer 3

How we act and interact.

Question 4

What is not a neurodevelopmental condition?

Answer 4

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

Question 5

What are some examples of neurodevelopmental disorders?

Answer 5

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

Question 6

What is the diagnostic process for neurodevelopmental conditions?

Answer 6

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).

Question 7

What is a chromosomal condition?

Answer 7

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.

Question 8

What is the cause of Downs Syndrome?

Answer 8

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

Question 9

What are the characteristics of Downs Syndrome?

Answer 9

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

Question 10

What is the cause of William’s Syndrome?

Answer 10

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.

Question 11

What is the cause of Sotos Syndrome?

Answer 11

Mutations in the NSD1 gene on chromosome 5.

Question 12

What are the characteristics of Sotos Syndrome?

Answer 12

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.

Question 13

What is the cause of Prader-Willi Syndrome?

Answer 13

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

Question 14

What are the characteristics of Prader-Willi Syndrome?

Answer 14

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.

Question 15

What is the cause of Rett Syndrome?

Answer 15

Mutation within the MECP2 gene located on the X chromosome.

Question 16

What are the characteristics of Rett Syndrome?

Answer 16

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.

Question 17

What is the cause of Autism?

Answer 17

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.

Question 18

Why can ‘disorder’ be an appropriate term?

Answer 18

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.

Question 19

Why can ‘disorder’ by an inappropriate term?

Answer 19

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.

Question 20

What is neurodiversity?

Answer 20

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.

Question 21

What methods are used for studying neurodevelopmental conditions?

Answer 21

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.

Question 22

Why is it important to adopt the neurodiversity approach?

Answer 22

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.

Question 23

Why are neurodevelopmental conditions important to study?

Answer 23

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.

Question 24

What are the issues involved with studying neurodevelopmental conditions?

Answer 24

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?

Question 25

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

Answer 25

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.

Question 26

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

Answer 26

Underemployment, mental health conditions, and victimisation.