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ABPP-CN > Chapter 15 - Chromosomal And Genetic Syndromes > Flashcards

Chapter 15 - Chromosomal And Genetic Syndromes Flashcards

0
Q

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

A

NF2

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1
Q

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

A

NF1

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2
Q

What are the criteria for NF1?

A 
6+ cafe-au-lair spots
2+ neurofibromas
Freckling in groin
Optic glioma 
2+ lisch nodules 
Bony lesion
First degree relative with NF1
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3
Q

What is the neuropathology observed in NF1?

A

Brain tumors
T2 hyper intensities
Microcephaly

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4
Q

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

A

Tuberous sclerosis complex

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5
Q

What is the neuropathology observed in tuberous sclerosis complex?

A

Cortical tubers
Subependymal nodules
Subependymal giant cell astrocytomas

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6
Q

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

A

LD and ADHD

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7
Q

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

A

ID and autism

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8
Q

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

A

ID and varying deficits related to medical complications

No typical memory psych profile

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9
Q

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

A

ID
Better verbal than nonverbal skills
Hypersociability
Anxiety/phobias

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10
Q

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

A

Borderline IQ
Better verbal than nonverbal skills
Anxiety
Schizophrenia

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11
Q

What are the primary cognitive/behavioral characteristics of adrenoleukodystrophy?

A

Nonverbal deficits
EF deficits
Psychiatric Sx in adults

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12
Q

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

A

Language deficits
Dyslexia
ADHD
Anxiety/depression

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13
Q

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

A

Autism
ADHD
ID

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14
Q

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

A 
ADHD
Math disability
Nonverbal deficits
Deficits in social cognition
Depression in adults
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15
Q

What are the primary cognitive/behavioral characteristics of phenylketonuria?

A

ADHD
Math deficits
Reduced processing speed

16
Q

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

A

ID
Autism
Behavioral problems related to hyperphagia

17
Q

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

A

Severe ID
Severe speech delays
Happy disposition with easily provoked laughter

18
Q

What is the neuropathology observed in Sturge-Weber Syndrome?

A

Leptomeningeal angioma
Cerebral atrophy
Cortical calcification

19
Q

What is the neuropathology observed in Williams Syndrome?

A

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

20
Q

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

A 
Decrease in total brain volume
Reduced cerebellar volume
Hippocampus like reduction
Disorganized atonal tracts
Cortical thinning
21
Q

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

A

Adrenoleukodystrophy

22
Q

What is the neuropathology of adrenoleukodystrophy?

A

Inflammatory brain demyelination

Noninflammatory distal axonopathy

23
Q

What are the first sx observed in ALD in children?

A

Attention deficits

24
Q

What are the first observed sx in adults with ALD?

A

Psychiatric: mania and psychosis

25
Q

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

A

Klinefelter syndrome (XXY)

26
Q

What is the neuropathology observed in Klinefelter Syndrome?

A

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

27
Q

What is the leading cause of inherited ID?

A

Fragile X Syndrome

28
Q

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

A

Fragile X Syndrome

29
Q

What is the neuropathology observed in Fragile X syndrome?

A

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

30
Q

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

A

Turner syndrome

31
Q

What is the neuropathology observed in individuals with Turner Syndrome?

A

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

32
Q

What is the neuropathology observed in Prader-Willi Syndrome?

A

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

33
Q

What is the neuropathology observed in untreated phenylketonuria?

A

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

34
Q

What is the neuropathology observed in treated phenylketonuria?

A

White matter abnormalities

Volume loss

35
Q

What is the neuropathology observed in Angelman syndrome?

A

Generally normal brain structures

ABPP-CN (26 decks)

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