Chapter 15 - Chromosomal And Genetic Syndromes

Question 0

What genetic syndrome is characterized by bilateral acoustic schwannomas on the eighth cranial nerve, meningiomas, and ependymomas?

Answer 0

NF2

Question 1

What genetic syndrome is characterized by skin and bone abnormalities resulting from tumors growing along the nerves?

Answer 1

NF1

Question 2

What are the criteria for NF1?

Answer 2

6+ cafe-au-lair spots
2+ neurofibromas
Freckling in groin
Optic glioma 
2+ lisch nodules 
Bony lesion
First degree relative with NF1

Question 3

What is the neuropathology observed in NF1?

Answer 3

Brain tumors
T2 hyper intensities
Microcephaly

Question 4

What is an autosomally dominent neuro cutaneous disorder affecting multiple organ systems?

Answer 4

Tuberous sclerosis complex

Question 5

What is the neuropathology observed in tuberous sclerosis complex?

Answer 5

Cortical tubers
Subependymal nodules
Subependymal giant cell astrocytomas

Question 6

What are the primary cognitive/behavioral characteristics of neurofibromatosis type 1?

Answer 6

LD and ADHD

Question 7

What are the primary cognitive/behavioral characteristics of tuberous sclerosis complex?

Answer 7

ID and autism

Question 8

What are the primary cognitive/behavioral characteristics of Sturge-Weber syndrome?

Answer 8

ID and varying deficits related to medical complications

No typical memory psych profile

Question 9

What are the primary cognitive/behavioral characteristics of Williams Syndrome?

Answer 9

ID
Better verbal than nonverbal skills
Hypersociability
Anxiety/phobias

Question 10

What are the primary cognitive/behavioral characteristics of 22q1.2 deletion syndrome?

Answer 10

Borderline IQ
Better verbal than nonverbal skills
Anxiety
Schizophrenia

Question 11

What are the primary cognitive/behavioral characteristics of adrenoleukodystrophy?

Answer 11

Nonverbal deficits
EF deficits
Psychiatric Sx in adults

Question 12

What are the primary cognitive/behavioral characteristics of Klinefelter syndrome?

Answer 12

Language deficits
Dyslexia
ADHD
Anxiety/depression

Question 13

What are the primary cognitive/behavioral characteristics of Fragile X?

Answer 13

Autism
ADHD
ID

Question 14

What are the primary cognitive/behavioral characteristics of Turner syndrome?

Answer 14

ADHD
Math disability
Nonverbal deficits
Deficits in social cognition
Depression in adults

Question 15

What are the primary cognitive/behavioral characteristics of phenylketonuria?

Answer 15

ADHD
Math deficits
Reduced processing speed

Question 16

What are the primary cognitive/behavioral characteristics of Prader Willi Syndrome?

Answer 16

ID
Autism
Behavioral problems related to hyperphagia

Question 17

What are the primary cognitive/behavioral characteristics of Angelman Syndrome?

Answer 17

Severe ID
Severe speech delays
Happy disposition with easily provoked laughter

Question 18

What is the neuropathology observed in Sturge-Weber Syndrome?

Answer 18

Leptomeningeal angioma
Cerebral atrophy
Cortical calcification

Question 19

What is the neuropathology observed in Williams Syndrome?

Answer 19

Reduction in cerebral volume
Narrowing of corpus callosum
Abnormal cell density in the primary visual cortex
Reduced sil cal depth in the interparietal/occipitoparietal sulcus
Abnormal neural pathways

Question 20

What is the neuropathology observed in 22q11.2 deletion syndrome?

Answer 20

Decrease in total brain volume
Reduced cerebellar volume
Hippocampus like reduction
Disorganized atonal tracts
Cortical thinning

Question 21

What is a genetic disorder that affects CNS myelin and adrenal cortex?

Answer 21

Adrenoleukodystrophy

Question 22

What is the neuropathology of adrenoleukodystrophy?

Answer 22

Inflammatory brain demyelination

Noninflammatory distal axonopathy

Question 23

What are the first sx observed in ALD in children?

Answer 23

Attention deficits

Question 24

What are the first observed sx in adults with ALD?

Answer 24

Psychiatric: mania and psychosis

Question 25

What is the most common sex chromosome aneuploidy seen in males?

Answer 25

Klinefelter syndrome (XXY)

Question 26

What is the neuropathology observed in Klinefelter Syndrome?

Answer 26

Reduced overall brain volume Differences in temporal lobe characteristics Increased rates of anomalous cerebral dominance

Question 27

What is the leading cause of inherited ID?

Answer 27

Fragile X Syndrome

Question 28

What is the most common single gene disorder associated with autism?

Answer 28

Fragile X Syndrome

Question 29

What is the neuropathology observed in Fragile X syndrome?

Answer 29

Enlarged hippocampus caudate nucleus, thalamus, and amygdala Reduction in size of the cerebellar vermis Dysmorphia of cerebellar vermis and caudate nucleus

Question 30

What genetic disorder results from a missing or abnormal second X chromosome?

Answer 30

Turner syndrome

Question 31

What is the neuropathology observed in individuals with Turner Syndrome?

Answer 31

Decreased volumes of parietal and occipital cortices Abnormal structure and function of amygdala, insula, anterior cingulate, VM PFC, OFC Dysfunction frontoparietal circuitry Agenesis of the corpus callosum

Question 32

What is the neuropathology observed in Prader-Willi Syndrome?

Answer 32

Structural abnormalities in pituitary gland, hypothalamus, parietal-occipital lobe Connectivity abnormalities Abnormalities in regions related to eating (hypothalamus, insula, VM PFC, NA)

Question 33

What is the neuropathology observed in untreated phenylketonuria?

Answer 33

Hypomyelination and Gliosis Progressive white matter degeneration Delay or arrest in development of cerebral cortex Diffuse cortical atrophy and reduced dendritic arborization

Question 34

What is the neuropathology observed in treated phenylketonuria?

Answer 34

White matter abnormalities | Volume loss

Question 35

What is the neuropathology observed in Angelman syndrome?

Answer 35

Generally normal brain structures