Fetal Alcohol Syndrome Questions

:
1. List two and signs of FAS that are apparent at birth and two that may not be obvious until later in
development.
Examples: Early- Low birth weight, thin upper lip, microcephaly, smooth philtrum. Later-
delayed cognitive development, ADHD, stunted growth, poor dexterity.
2. True or false: If a woman drinks during the first trimester of pregnency, her developing fetus is at
risk for severe heart and CNS malformations due to decreased crest cell migration.
True
3. The anterior thalamic nuclei affected by ethanol treatment are most similar to those affected by
treatment with
A) MK-801
B) Shh
C) Phenobarbital
D) All of the above
E) A and C <---

Microcephaly Questions:
1. What is the primary symptom of microcephaly?
2. Describe the difference between primary Microcephaly and secondary Microcephaly?
3. What is the role of MCPH?
4. How does ASPM mutation affect cell division?

Cretinism Questions:
1. How does ASPM mutation affect cell division?
a. Precursor
b. Metabolite
c. Isomer
d. Deactivated form
2. MCT-8 and OATP-1c1 are _______ proteins expressed in the ______ and ______ cells of the
choroid plexus, respectively.
a. Transport, tnaycyte, epithelial
b. Transport, endothelium, tanycyte
c. Receptor, tnaycyte, endothelium
d. Receptor, endothelium, tanycyte
3. The expression amount of a given protein is experimentally quantified by measuring
concentrations of that proteins:
a. DNA
b. tRNA
c. rRNA
d. mRNA
4. Compare the case study of the 22-year old man "not growing up" with hypothyroid neonates at
three months and three weeks of age. Which patient is likely to have the best treatment outcome
and specifically, why?
The three-week-old because that patient is within a critical window of post-natal elevation of
TH receptor expression.

Lissencephaly Questions:
1. A young female develops recurring seizures and her family goes to you for a diagnosis. Upon
examination you learn the child is diabetic, exhibits hypotonia, and an EEG confirms that she has
epilepsy. A) Why does the child exhibit these symptoms? B)What tests would you recommend to
confirm a diagnosis?
a. Epilesy - lack of 'electrical tape' inhibition, Diabetic - underdeveloped pancreas, Hypotonia
- underdeveloped muscles
b. Scans: MRI to check brain, Genetic testing to confirm mutation
2.
What type of inheritance is this? Given this information, what syndrome would you expect
this to be?
Autosomal Dominant inheritance. Miller-Dieker Syndrome.
3. What type of brain image is this? Does this brain have lissencephaly? If so, where is the
abnormality?

a. MRI and trick question - this brain does not exhibit lissencephaly
4. Why does this happen, and why the inversion?

Failure to dissociate,
Doesn't migrate past the elders
Mis-orientation leads to disorganization, leads to mix of layers and so there's 4 instead of 6
layers
5. If type 1 has fewer layers and a smaller cortex due to undermigration, what happens in type 2
where the neurons overmigrate?
 Extra layer in subarachnoid space (cobblestone surface)
 Hydrocephaly
 Thinner cortex
6. Provide a recap of Lissencephaly. What is it? What causes it? How does it occur? Explain one of
the syndromes.

Holoprosencephaly Questions:
1. How and when does the HPE occur?
2. What causes HPE?
Genes mutations, chromosome abnormalities, non-genetic factors
3. What is HPE?
4. List the forms of HPE from most severe to least.
5. What part of the brain is affected by Holoprosencephaly?
a. Mesencephalon
b. Rhombecephalon
c. Prosencephalon
d. Spinal Cord
e. All of the above
6. SHH affects Pax2 and Pax6. Which is the correct way SHH acts on Pax2 and Pax6.
a. SHH represses Pax6 and induces Pax6
b. SHH represses Pax6 and induces Pax2
c. SHH induces Pax6 as well as inducing Pax2
d. SHH represses Pax6 and Pax2

Autism Questions:
1. Which two genes when mutated are involved in autism spectrum disorders that were
only discussed in class?
a. NLGN1 and NLGN4
b. NLGN3 and NLGN7
c. NLGN3 and NLG4
d. NLGN2 and NLGN8

2. The mutation of SHANK3 protein associated with what specific problem?
a. language and/or social communication
b. sleeping and waking
c. eating and drinking
d. focusing and walking

3. In autistic brain, the connectivity is:
a. hyperconnected
b. hypoconnected
c. both a and b
d. none of the above

4. What is the major clinical presentation to autism spectrum disorders?
a. disruption of social survival skills
b. special attention to eye contact
c. socializing
d. responsive to their name

Double Cortex Questions:
1. Double Cortex Syndrome describes the condition where the developing brain creates an extra
thick outer cortex.
a. True
b. False
2. Which of the following is NOT a correct statement about Double Cortex Syndrome?
a. This syndrome is also known as Subcortical Band Heterotopia.
b. Lissencephaly is considered to be a mild form of Double Cortex Syndrome.
c. The gray matter band surrounding the ventricles may be symmetric or asymmetric.
d. Functional connections exist between normal and abnormal tissue.
3. In normal migration, the ____ gene regulates the production of doublecortin, which affects
migration by ____.
a. DCX; decreasing dissociation rate of microtubules, allowing the brain to properly
separate into layers.
b. L1S1; increasing dissociation rate of microtubules, allowing the brain to properly
separate into layers.
c. LGS; decreasing the dissociation rate of microtubules, allowing the brain to properly
separate into layers.
d. DCX; increasing dissociation rate of microtubules, allowing the brain to properly
separate into layers.
4. Name two brain scan methods that can provide more information than conventional MRI scans
about patients with Double Cortex Syndrome.
Diffusion Tensor Imaging (DTI) and 3D MRI
Schizencephaly Questions:
1. Define Schizencepahly
Answer: A rare cortical malformation that manifests itself as a grey-matter lined cleft extending
from the ependymal or ventricle to the pia layer.
2. What are the two types of Schizencephaly and what defines each of the two types?
a. Open-lip Schizencephaly
i. Cleft walls are separated and fill with CSF
ii. Most common form in bilateral cases
iii. Surrounding cortex is usually polymicrogyric
b. Closed-lip Schizencephaly
i. Cleft walls are in apposition
ii. Most common form in unilateral
3. What are the three currently proposed genes that are seen as the most promising for a
legitimate cause of Schizencephaly?
a. LHX2
b. HESX1
c. SOX1
4. In which of the following areas of nervous system tissue is LHX2 not expressed?
a. Cerebral Cortex
b. Hypothalamic progenitor cells
c. Basil ganglia progenitor cells
d. Forebrain progenitor cells

Rett’s Questions:
What is the likelihood of an asymptomatic mother to have a child with Rett
Syndrome?
What was the overall point of Dr. Adrian Bird's "Reversal of Rett" lab?
95% of known mutations start in the oocyte (true or false?)
Agenesis of the Corpus Callosum:
1. according to the power point, what four things are needed for callosal development?
telencephalon development, midline development, callosal neuron neurogenesis, and proper migration
2. What functional white matter tracts impinge upon the lateral ventricles and are good biomarkers for AgCC?
probst bundles
3. Are there more repulsion or attraction factors that are known to guide forebrain callosal midline crossing?
repulsion
4. What well known disorder are people with functional AgCC mistakenly diagnosed with?
autism

Fragile X-Syndrome Questions:
How many repeats of the CGG trinucleotide sequence are observed in individuals with the Fragile X
permutation?
ANSWER: (50-200)

What is FMRP responsible for in neurons?
a) synaptic vesicle formation
b) protein synthesis
c) movement of mRNA to the synapse
d) all of the above- ANSWER D

What is the significance of the deficits observed in the hypothalamus of patients with Fragile X
Syndrome?
ANSWER: (hypothalamus controls release of growth hormones, which are responsible for the physical
hallmarks of Fragile X)

Male vs. Female Questions:
Q1) What are the two time periods when there is a surge in testosterone?
Two testosterone surges in human pregnancy
•weeks 12 and 18
•weeks 34 to 40
Q2) In female rats, how is the brain protected from the masculinizing effects of estradiol? The estradiol is
sequestered by alpha-feto protein and does not cross the blood brain barrier.
Q3) How does the corpus callosum in human females differs from males? Human female brains have
more connections between the two cerebral hemispheres through the corpus callosum on average
Q4) Which infant on average has more sensitive hearing- a male human or a female human ? Human
female infant
Q5) Name one area of behavior in which human males on average are better than females? Spatial
ability

State some anatomical differences
Suprachiasmatic nucleus (SCN) is larger in gay men than in heterosexual men and contains more vasopressin-
secreting cells
Anterior commissure (AC) is larger in gay men and heterosexual women than in heterosexual men
INAH3 (third interstitial nucleus of the anterior hypothalamus) is female-sized (smaller) in gay men
Male sexual behavior is impaired by MPOA lesions and enhanced with MPOA stimulation

Hypoxia-Ischemia Questions:
1. What is the most common clinical feature following a hypoxic-ischemic brain injury (HI-BI)?
A. Acidosis
B. Cognitive Impairment
C. Seizures
D. Smooth Philtrum



2. One of the most common drugs administered for seizures treatment following a HI-BI is
clonazepam, which works by enhancing GABA and allowing more _______ to enter and
hyperpolarize the cell to prevent it from misfiring.
A. BDNF
B. Cl-
C. Na+
D. HCO3-

AVM questions:
1) What two systems work together symbiotically, resulting in the blood supply of the brain?
Explain why the brain utilizes both of these systems?
Nervous system + Vascular System. Brain uses both of these systems because the CNS does
NOT produce its own vascular progenitor cells. Vasculature ingression is necessary for
proper brain development and function.
2) Which of the following is NOT a function/effect of VEGF-A?
a. Embryonic crosstalk involved prior to ingression of angiogenic vessel sprouts
b. Causes blood vessels to enter at specific points medially and ventrally from the
surrounding PNVP during neural tube development
c. Inhibits the expression of EphA4 on endothelial cells during development
d. Increases vessel density/branching and supports neural tube development
3) Describe what an AVM is and what role does this abnormal structure miss out on?
AVMs are large tangles of arteries and veins, bypassing the capillary component. Bypassing
the capillaries prevent the slowing of blood flow and essential exchange of oxygen to
surrounding tissue.
4) Which of the following cause(s) AVMs?
a. Congenital – form due to incomplete vascular development early in fetal life
b. Environmental factors
c. Hereditary
d. All of the above

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