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
What happens during the transcription stage of DNA replication?
- The sequence of bases in the DNA molecule is transcribed into mRNA
- The mRNA molecules leave the cell nucleus and enter the cytosol of the cell
What happens during the translation stage of DNA replication?
The mRNA binds to ribosomes and links amino acids together into proteins
What do neurons need a variety of in order to produce glial cells?
Proteins
What is an interneuron?
A type of neuron that sends projections within a brain area, rather than to other brain areas
What is gene silencing?
The process in which the expression of a gene is suppressed
What does the term epigenetic mechanisms refer to?
The regulation of gene silencing and activation
What is microRNA?
A type of RNA able to bind to mRNA and cause cleavage, degradation or blocking of the translation process
What is non-coding RNA?
RNA that is not involved in carrying the genetic code after the transcription process
Why is asymmetric division important during development?
Because this is the process that is responsible for cell diversification
What does the term glycolisis mean?
Literally, “glucose splitting” - a process that occurs during digestion
Which chemical important in epigenetic regulation can hyperglycaemia eventually increase the level of?
Acetyl coenzyme A (acetyl-CoA)
What does the chemical acetyl-CoA (acetyle coenzyme A) play an important role in?
Epigenetic regulation
What happens in the first stage of the TCA cycle?
Glucose molecules are broken down to two pyruvate molecules with the release of ATP
What happens in the second stage of the TCA cycle?
Each pyruvate is transformed into acetyl-CoA with the release of CO_2
What substance, if added to chromatin, can affect access to DNA during transcription?
Acetyl groups
What is ‘western blotting’?
A technique to measure protein levels
What is a kilodalton (kDa)?
A atomic weight, usually used to describe the molecular weight of large molecules such as proteins
What is Dcx?
A protein called doublecortin
What is doublecortin (Dcx)?
A protein involved in cell migration
What type of congenital condition might unregulated gestational diabetes be a risk factor for?
Neural tube defects
In the field of psychology, what are the five domains of functioning?
- Social
- Emotional
- Cognitive
- Language
- Physical
What does the term ‘face validity’ mean?
The extent to which a test appears to measure what it is intended to measure
What is meant by the term ‘content validity’?
The extent to which a measure is representative of all aspects of what it is trying to measure
What is meant by the term ‘construct validity’?
The extent to which a test measures the psychological construct of interest
With regards to assessments, what is meant by the term ‘feasibility’?
The extent to which an assessment can be easily applied in the setting it was intended to be used in
In a psychological context, what is meant by the term ‘domain’?
A specific aspect of functioning