Chapter 15 - Chromosomal And Genetic Syndromes Flashcards
What genetic syndrome is characterized by bilateral acoustic schwannomas on the eighth cranial nerve, meningiomas, and ependymomas?
NF2
What genetic syndrome is characterized by skin and bone abnormalities resulting from tumors growing along the nerves?
NF1
What are the criteria for NF1?
6+ cafe-au-lair spots 2+ neurofibromas Freckling in groin Optic glioma 2+ lisch nodules Bony lesion First degree relative with NF1
What is the neuropathology observed in NF1?
Brain tumors
T2 hyper intensities
Microcephaly
What is an autosomally dominent neuro cutaneous disorder affecting multiple organ systems?
Tuberous sclerosis complex
What is the neuropathology observed in tuberous sclerosis complex?
Cortical tubers
Subependymal nodules
Subependymal giant cell astrocytomas
What are the primary cognitive/behavioral characteristics of neurofibromatosis type 1?
LD and ADHD
What are the primary cognitive/behavioral characteristics of tuberous sclerosis complex?
ID and autism
What are the primary cognitive/behavioral characteristics of Sturge-Weber syndrome?
ID and varying deficits related to medical complications
No typical memory psych profile
What are the primary cognitive/behavioral characteristics of Williams Syndrome?
ID
Better verbal than nonverbal skills
Hypersociability
Anxiety/phobias
What are the primary cognitive/behavioral characteristics of 22q1.2 deletion syndrome?
Borderline IQ
Better verbal than nonverbal skills
Anxiety
Schizophrenia
What are the primary cognitive/behavioral characteristics of adrenoleukodystrophy?
Nonverbal deficits
EF deficits
Psychiatric Sx in adults
What are the primary cognitive/behavioral characteristics of Klinefelter syndrome?
Language deficits
Dyslexia
ADHD
Anxiety/depression
What are the primary cognitive/behavioral characteristics of Fragile X?
Autism
ADHD
ID
What are the primary cognitive/behavioral characteristics of Turner syndrome?
ADHD Math disability Nonverbal deficits Deficits in social cognition Depression in adults
What are the primary cognitive/behavioral characteristics of phenylketonuria?
ADHD
Math deficits
Reduced processing speed
What are the primary cognitive/behavioral characteristics of Prader Willi Syndrome?
ID
Autism
Behavioral problems related to hyperphagia
What are the primary cognitive/behavioral characteristics of Angelman Syndrome?
Severe ID
Severe speech delays
Happy disposition with easily provoked laughter
What is the neuropathology observed in Sturge-Weber Syndrome?
Leptomeningeal angioma
Cerebral atrophy
Cortical calcification
What is the neuropathology observed in Williams Syndrome?
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
What is the neuropathology observed in 22q11.2 deletion syndrome?
Decrease in total brain volume Reduced cerebellar volume Hippocampus like reduction Disorganized atonal tracts Cortical thinning
What is a genetic disorder that affects CNS myelin and adrenal cortex?
Adrenoleukodystrophy
What is the neuropathology of adrenoleukodystrophy?
Inflammatory brain demyelination
Noninflammatory distal axonopathy
What are the first sx observed in ALD in children?
Attention deficits
What are the first observed sx in adults with ALD?
Psychiatric: mania and psychosis
What is the most common sex chromosome aneuploidy seen in males?
Klinefelter syndrome (XXY)
What is the neuropathology observed in Klinefelter Syndrome?
Reduced overall brain volume
Differences in temporal lobe characteristics
Increased rates of anomalous cerebral dominance
What is the leading cause of inherited ID?
Fragile X Syndrome
What is the most common single gene disorder associated with autism?
Fragile X Syndrome
What is the neuropathology observed in Fragile X syndrome?
Enlarged hippocampus caudate nucleus, thalamus, and amygdala
Reduction in size of the cerebellar vermis
Dysmorphia of cerebellar vermis and caudate nucleus
What genetic disorder results from a missing or abnormal second X chromosome?
Turner syndrome
What is the neuropathology observed in individuals with Turner Syndrome?
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
What is the neuropathology observed in Prader-Willi Syndrome?
Structural abnormalities in pituitary gland, hypothalamus, parietal-occipital lobe
Connectivity abnormalities
Abnormalities in regions related to eating (hypothalamus, insula, VM PFC, NA)
What is the neuropathology observed in untreated phenylketonuria?
Hypomyelination and Gliosis
Progressive white matter degeneration
Delay or arrest in development of cerebral cortex
Diffuse cortical atrophy and reduced dendritic arborization
What is the neuropathology observed in treated phenylketonuria?
White matter abnormalities
Volume loss
What is the neuropathology observed in Angelman syndrome?
Generally normal brain structures
