Week 5 - Reconsidering ‘abnormality’ and mental health in brain development Flashcards
What is lissencephaly?
A congentical condition where the cortex fails to develop normally
Abnormal cortical development can affect which types of functions?
Physical and mental functioning
What does the term lissencephaly literally mean?
“Smooth brain”
What is microencephaly?
A condition associated with a smaller than average brain size at birth
What are the two types of lissencephaly?
- Classic
- ‘Cobblestone’
What is type I lissencephaly also known as?
Miller-Dieker syndrome
What does the term spectrum refer to in the context of health conditions?
The occurrence of a set of symptoms that range in severity, as in ASD
Type I lissencephaly, or Miller-Dieker syndrome, has a prevalence of roughly what globally?
1.2 births per 100,000
What is the LIS1 gene?
A gene located on chromosome 17 that is associated with the classic form of lissencephaly
What happens to the LSI1 gene in Miller-Dieker syndrome?
It is deleted
What does the deletion of the LSI1 gene cause?
Reduced production of the protein called PAFAH1B - platelet activating factor acetylhydrolase isoform 1B
What other protein does PAFAH_1B_1 interact with?
Dynactin
What does dynactin play a role in?
- Cell differentiation
- The movement of cells during the migration process
What effect does type 1 lissencephaly have on cortical layers?
- There are typically three or four, instead of five or six
- The cortex is thicker than normal; 10-20mm rather than 4mm
- Reduced cortical folding
Why is it preferable to refer to congenital conditions as being ‘anomalies’, rather than ‘abnormalities’?
There is an increasing preference to consider conditions as unusual or different, rather than as abnormal
What are some physical indicators of Miller-Dieker syndrome?
- Locomotor difficulties
- Difficulty swallowing
- Epileptic seizures
- Severely impaired mental capacity
What are the stages of DNA replication?
- Transcription
- Translation