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Flashcards in Chromosomal/Genetic Syndromes Deck (114)
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1
Q

What disorder is characterized by skin and bone abnormalities resulting from tumors growing along the nerve?

A

Neurofibromatosis type 1

2
Q

What characterizes neurofibromatosis type 2?

A

Bilateral acoustic schwannomas on the 8th cranial nerve, meningiomas, and ependymomas

3
Q

How is neurofibromatosis type 1 inherited?

A
  • Autosomal dominant genetic disorder

- Gene location: chromosome 17

4
Q

What are the diagnostic criteria for NF1?

A
Two or more of the following:
1 )6 or more cafe-au-lait macules
2) 2 or more neurofibromas or 1 plexiform neurofibroma 
3) Freckling in the axilla or groin
4) Optic glioma
5) 2 or more Lisch nodules
6) A distinctive bony lesion
7) A first degree relative with NF1
5
Q

What is the neuropathology of NF1?

A
  • Brain tumors (seen in 15% of people) w/ most present by age 6. Most are optic gliomas (benign)
  • T2 hyperintensities (60-70% of those with NF1) in the basal ganglia, cerebellum, thalamus, brainstem, and subcortical white matter
  • Macrocephaly/megalencephaly (30-50% of people)
6
Q

What are the presentation, disease course, and recovery like with NF1?

A
  • Most symptoms worsen over time
  • Neurofibromas increase in number during puberty and pregnancy
  • But T2H resolve by early adulthood
  • Children have delays in development
  • There is no recovery; neurocognitive profile remains static
7
Q

What are the cognitive characteristics of NF1?

A
  • Learning disabilities
  • ADHD
  • FSIQ ranges from 89-98 (leftward shift)
  • Deficits in attention and EF
  • Deficits in language, manual dexterity, coordination, and balance
  • Verbal and visual mem intact
8
Q

What are common behavioral characteristics of NF1?

A
  • Internalizing disorders
  • Poor impulse control can be associated with ADHD
  • Socially awkward
9
Q

What are the key physical/medical characteristics of tuberous sclerosis complex (TSC)?

A
  • Cortical tubers
  • Facial angiofibromas/hypomelanotic macules
  • Shagreen pathc
  • Subpendymal nodules: hamartomas
  • Subpendymal giant cell astrocytoma: slow growing most common brain tumor
  • Cardiac rhabdomyoma
  • Lymphangiomyomatosis
  • Renal angiomyolipoma
  • Epilpesy
10
Q

What are the common cognitive and behavioral characteristics of TSC?

A

-ID: bimodal distribution (30% have profound ID and 70% normal to superior IQ)
-High rates of LD in those w/ normal IQ
-Deficits in attention and EF
-Only 30% have normal language development
-Deficits in memory recall w/ spared recog
-Autism (40-50% diagnosed with this)
=50% exhibit behavioral problems

11
Q

How is TSC inherited?

A
  • Variably expressed, autosomally dominant
  • From one of 2 genes: TSC1 or TSC2
  • Clinical presentation of TSC1 may be milder
12
Q

What is the morbidity and mortality of TCS?

A
  • 80-90% diagnosed with epilepsy & seizures begin in infancy & typically intractable
  • 45% diagnosed with ID
  • 40-50% diagnosed with ASD
  • 25=50% diagnosed with ADHD (higher prevalence in children with seizures)
  • Life expectancy variable
13
Q

What is the disease course in TSC?

A
  • Variable: those w/ profound ID show little cog progression past the sensorimotor stage
  • Infants tend to remain delayed compared to peers over time
  • Children w/out early delays fall behind peers during school years
  • No intellectual or behavioral regression
14
Q

What are the major characteristics of Sturge-Weber Syndrome (SWS)?

A
  • Facial capillary malformation or port-wine birthmark (PWB in the region of the ophthalamic division of the trigeminal nerve)
  • Vascular malformation of the brain (typically on the same side as the PWB in the occipital and parietal lobes)
  • Glaucoma
  • Seizures
  • Migraines
  • Stroke-like episodes: associated with seizures/migraines and present with weakness or sensory disturbance
  • 18 fold increase in prevalence of growth hormone deficiency
15
Q

Is SWS genetic?

A

It has no known genetic basis and is nonfamilial

16
Q

What are the cognitive/behavioral characteristics of SWS?

A
  • ID (50-60% diagnosed with ID)

- Varying deficits related to medical complications

17
Q

What is the neuropathology of SWS?

A
  • Leptomeningeal angioma: capillary-venous vascular malformation of the brain
  • PWB increases the risk of brain involvement by 10-20% and is correlated with size
  • Cerebral atrophy and cortical calcification: lateralized in the occipital and parietal regions
18
Q

How many individuals with SWS have unilateral brain involvement?

A
  • 75%

- Of those with bilateral brain involvement, 95% have seizures (contralateral to the PWB)

19
Q

What group is most susceptible to stroke-like episodes in SWS?

A
  • Toddlers and young children

- These are precipitated by falls typically

20
Q

Describe the seizures associated with SWS.

A
  • Typically begin in childhood in the first year with unilateral brain invovlement
  • Focal motor seizures are most common but complex partial seizures are also common
  • Seizures stabilize in older childhood and worsen in adolescence
  • AEDs are use and research suggests better cognitive functioning in those who are treated prophylactically
21
Q

What is associated with better outcome in SWS?

A
  • Later seizure onset (after 9-12 months of age)
  • Good seizure control
  • Unilateral brain involvement
22
Q

Are those with SWS at risk for neurologic deterioration?

A
  • Yes, thought to be due to venous occlusions and hypoxia and worsened by seizures
  • Early onset dementia can be seen in individuals with SWS in their 50s and 60s
23
Q

Describe the cognitive and behavioral functioning in those with SWS.

A
  • Difficulty to determine d/t variable course and outcome
  • Risk factors for worse outcome: frequent seizures, seizure onset in infancy, diffuse cortical involvement, hx of stroke-like episodes
  • 60% of IQ scores in range of ID
  • Learning, attention, processing speed, language, visual-perceptual, and sensorimotor problems are reported
  • Disrupted behavior disorder is common
  • Mood problems such as depression is common
  • Substance-related disorders are common in adults
24
Q

What is are the key physical & medical characteristics of Williams Syndrome?

A
  • Connective tissue abnormalities
  • Cardiovascular disease; supravalvar aortic stenosis
  • Ocular/visual abnormalities: hyperopia, strabismus
  • Ear/auditory abnormalities: chronic otitis media, hypersensitivity to sound
  • Kidney/urinary tract abnormalities
  • Facial dysmorphology
25
Q

Describe the facial dysmorphology seen in Williams syndrome.

A
  • “Elfin” appearance
  • Broad bow
  • Flat nasal bridge
  • Short upturned nose
  • Wide mouth with full lips
  • Starburst iris pattern
26
Q

What are the cognitive/behavioral characteristics of Williams syndrome?

A
  • ID: average FSIQ is 55
  • Better verbal than nonverbal skills
  • Impaired visuospatial cognition but intact object and face fecovnition
  • Utilize a local/featural rather than global configuration approach
  • Impaired dorsal visual stream- poor spatial memory
  • Auditory rote mem is a strength
  • Reading is better than math
  • Hypersociability
  • Exhibits conversational sterotypies
  • Anxiety/phobias
27
Q

What is the neuropathology of WIlliams syndrome?

A
  • Reductions of cerebral volume with preservation of cerebellar volume
  • Gray matter volume is preserved with reductions in white matter volume
  • Narrowing of corpus collosum
  • Abnormal cell density in the primary visual cortex
  • Reduced sulcal depth in the intraparietal/occipitoparietal sulcus (abnormal dorsal stream function)
  • Abnormal neural pathways: increased amygdala activation to threatening scenes and reduced amygdala activation to threatening faces (d/t/ hypersocial and anxious traits)
28
Q

What is the morbidity and mortality of Williams syndrome?

A
  • Failure to thrive in 70% of infants
  • 50-75% develop cardiovascular disease which leads to shortened lifespan
  • 50% have strabismus, cataracts, and visual acuity problems
  • 85-95% have hypersensitivity to sound
  • 65% diagnosed with ADHD
  • Majority of IQ in the ID range
29
Q

What is the typical disease course in Williams Syndrome/

A
  • Motor delays and hypotonia in infancy
  • Atypical language developmental schemes
  • Delayed expressive language initially but once their vocab develops they use language for social purposes
  • Sensorineural hearing loss by age 30
  • Adults have diabetes
  • Enhances affinity for music, rhythm and timbre are strengths
  • No cure
30
Q

What are the key physical and medical characteristics of 22q11.2 deletion syndrome?

A
  • Cardiac defects: teralogy of Fallot, interrupted aortic arch, ventricular septal defect, vascular ring, tuncus arteriosus
  • Hypocalcemia
  • Mild conductive hearing loss
  • Palatal defects: submucosal cleft palate, velopharyngeal dysfunction
  • Facial dysmorphology: long face, long nose, small ears w/ overfold helices, vertically narrow eyes
31
Q

What are other names for 22q11.2 deletion syndrome?

A

DiGeorge syndrome, Shprintzen syndrome, or velo-cardio-facial syndrome

32
Q

Is 22q11.2 deletion syndrome inherited?

A

10% of cases are inherited from a parent in an autosomally dominant pattern while 90% are due to de novo mutations

33
Q

What is the neuropathology of 22q11.2 deletion syndrome?

A
  • Decrease in total brain volume with WM more affected than GM & parietal >frontal reduction
  • Reduced cerebellar volume
  • Hippocampal reduction
  • Disorganized axonal traxts
  • Cortical thinning: in parieto-occipital and orbitofrontal regions
34
Q

What is the morbidity and mortality of 22q11.2 deletion syndrome?

A
  • 75-80% have congenital heart defect
  • 69% have palatal abnormalities –> speech and feeding difficulties
  • 30-40% diagnosed with ADHD
  • 30-40% diagnosed w/ anxiety disorders
  • 10-30% diagnosed with ASD
  • 82-100% have learning difficulties
  • 20-30% dx with mood disorders
  • 25-30% dx with psychotic disorder
35
Q

What are the typical cognitive and behavioral characteristics of 22q11.2 deletion syndrome?

A
  • Mild ID to average IQ
  • Language skills better than nonverbal (possibly represents a nonverbal learning disorder)
  • Strong rote memory, good reading decoding
  • Math difficulties, poor attention and EF
  • Mood/psych disorders: anxiety, OCD
  • Increased risk for schizophrenia (respond less well to antipsychotic meds)
  • Deficits in gross motor skills
36
Q

What is the risk of developing schizophrenia in those with 22q11.2 deletion syndrome?

A

25x the general population

37
Q

What is an x-linked, recessive disorder affecting CNS myelin and the andrenal cortex?

A

Adrenoleukodystrophy (ALD)

38
Q

What is the biochemical basis for ALD?

A

Defective oxidation of very-long-chain fatty acids which accumulate in plasma, brain, and adrenal cortex.

39
Q

What is the disease course of ALD?

A

Neurodegenerative with death occurring 2-3 years after clinical onset

40
Q

Describe the genetics behind ALD?

A
  • X-linked recessive
  • X-linked disorder so males show greater deficits
  • Heterozygous females show mild to moderate myeloneuropathy after age 40
41
Q

What are the 4 main phenotypes of ALD?

A
  • Cerebral inflammatory: divided into childhood cerebral, adolescent, and adult
  • Adrenomyeloneuropathy
  • Addison-only
  • Asymptomatic
42
Q

What is the most common phenotype of ALD?

A
  • Childhood cerebral (CCALD): this represents 31-35% of cases
  • Age of onset is 3-10 years
  • Characterized by progressive behavioral, cognitive, and neurologic decline
43
Q

What is the age of onset of Adolescent and adult ALD?

A
  • Adolescent: 11-21 years; similar to CCALD but slowed progression
  • Adult: 21-35 years: dementia, behavioral disturbance, and focal defects. Similar progression to CCALD
44
Q

Describe the adrenomyeloneuropathy phenotype of ALD,

A
  • Onset is 28 years on average
  • Involves mainly spinal cord and peripheral nerve involvement
  • Progressive over decades
45
Q

Describe the Addison-only phenotype of ALD,

A
  • Onset before 7.5 years

- Primary adrenal insufficiency without neurologic involvement

46
Q

Describe the asymptomatic phenotype of ALD,

A
  • Common <4 yrs of age

- Gene abnormality without adrenal or neuroloigic defecit

47
Q

What is the neuropathology of ALD?

A
  • Inflammatory brain demylenation: posterior pattern in 80% starting at spelnium of corpus collosum and spreading into parieto-occiptal WM (spares arcuate fasiculus)
  • Noninflammatory distal axonpathy: involves long tracts of the spinal cord
48
Q

What percent of those with ALD have adrenal insuffiency?

A

90%

49
Q

What percent of those with ALD have psychiatric symptoms?

A

56%

50
Q

What is the disease course of ALD?

A
  • Typical development prior to onset
  • CCALD presents with ADHD like symptoms then additional deterioration
  • Minimally responsive state within 2 years followed by death
  • Adolescent form is less severe but death is seen w/in 1-2 years of cerebral involvement
  • Adult onset: psychiatric sx may occur years before motor signs
  • Lorenzo’s oil may reduced asymptomatic boys’ risk for developing CCALD but does not alter disease progression
51
Q

What is the only effective long-term treatment of ALD?

A
  • Bone marrow transplant
  • Must be done at an early stage of cerebral disease.
  • Improvement may be noted in nonverbal IQ
  • Predictors of good outcome: few or no neurologic deficits, nonverbal IQ greater than 80, less significant findings on MRI
  • 68% 5-year survival rate for related and 54% survival rate for unrelated donars
52
Q

What is the typical cognitive pattern of ALD?

A
  • That seen in other demylenating diseases (such as MS)
  • Attention problems in children and psychiatric symptoms in adults are the first symptoms
  • Greater deficits in nonverbal vs. verbal tasks
  • Deterioration of nonverbal IQ relative to progressive regions in parietal and occipital areas
  • Auditory mem better than visual mem
  • Executive functioning deficits are common
  • Worsening motor and sensory functioning
53
Q

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

A
  • Klinefelter Syndrome

- Results from the presence of an extra X chromosome (47,XXY)

54
Q

What are they key physical/medical characteristics of Klinefelter Syndrome?

A
  • Tall stature
  • Hypogonadism
  • Fertility problems
  • Hypotonia
  • Hypertelorism
  • Clinodactyly
  • Hyperextensible joints
  • Flat feet
55
Q

What are the cognitive/behavioral characteristics of Klinefelter syndrome?

A
  • Language deficits
  • Dyslexia
  • ADHD
  • Anxiety/depression
56
Q

What percentage of those with Klinefelter syndrome are diagnosed prenatally, in childhood, and in puberty?

A

-10, 25, and 65%

57
Q

What is the neuropathology of Klinefelter syndrome?

A
  • Reduced overall brain volume: regions of limbic areas, caudate, cerebellum
  • Differences in temporal lobe characteristics: reductions in temporal lobe gray matter and temporal lobe asymmetry
  • Increased rates of anomalous cerebral dominance: decreased right ear advantage for verbal material, reduced hemispheric specialization for language, increased activity for language in the right hemisphere
58
Q

What percentage of those with Klinefelter syndrome are diagnosed with ADHD, ASD, and LD (predominantly dyslexia)?

A
  • ADHD: 35-65%
  • ASD: 5-10%
  • LD: 50-75%
59
Q

What is the typical disease course for Klinefelter syndrome?

A
  • Motor and speech delay in childhood
  • Delayed language milestones
  • Tall stature apparent in childhood (adults are typically 3 inches taller than would be predicted given fam history)
  • Physical development normal until puberty when testosterone deficiency begins
  • Diminished growth of facial, chest, and pubic hair
  • Michroorchidism seen in all and gynecomastia in 25%
  • Testosterone replacement therapy is beneficial
  • A subset of males can father children
60
Q

What are other medical problems that can occur in Klinefelter syndrome?

A

Osteoporosis, autoimmune disease, thyroid problems, intention tremor, and type II diabetes

61
Q

What are typical neuropsych results for a male with Klinefelter syndrome?

A
  • IQ in the average range (maybe 5-10 pts lower)
  • Better nonverbal than verbal skills
  • Language based LDs
  • Language deficits more common in children than adults
  • High rate of ADHD: more inattention than hyperactivity
  • Slow processing speed
  • Deficits in strength, agility, dexterity, hand speed, and running speed
  • Elevated anxiety and depression (social anxiety)
  • Higher rate of ASD and psychotic symptoms
62
Q

What causes Fragile X syndrome?

A
  • Repetition in the CGG trinucleotide sequence at Xq27.3
  • 44 repeats in typical individuals, 45-54 repeats in :gray zone,” 55-200 repeats in premutation carriers, and >200 repeats in full mutation
  • Full mutation causes deficit or absence of FMR1 protein
  • Males more affected than females (females have two x chromosomes)
  • Leading cause of inherited ID, most common single gene disorder associated with autism
63
Q

What is the neuropathology of Fragile X syndrome?

A
  • Enlarged hippocampus, caudate nucleus, thalamus, and amygdala
  • Reduction in size of cerebellar vermis
  • Dysmorphia of cerebellar vermis and caudate nucleus : predictive of poorer cognitive testing and lower IQ scores
64
Q

What are morbidity and mortality stats of Fragile X syndrome?

A
  • Epilepsy in 10-20% (mostly males); seizures often resolve after childhood
  • Fragile X associated tremor/ataxia syndrome in 40% of premutation males and 10% premutation females
  • Autism in 25-47% of males
  • ADHD in 70-90% of males and 30-50% of females
  • ID in 80% of males (mod to severe) and 30% of females (mild)
  • Normal lifespan
65
Q

What is the typical disease course for those with Fragile X syndrome?

A
  • Developmental delays are usually the first signs
  • Large testicles occur during puberty (2-4x the normal size) until age 15 when they stablize
  • Fertility is normal
  • No cure
66
Q

What are expectations for neuropsychological results in individuals with Fragile X syndrome?

A
  • Mean IQ for males in the mid 40s and for females ranges from mild ID to average
  • Females without ID: math disability d/t poor spatial reasoning, working mem, and understanding of math principles
  • Intact visuoperceptual but impaired visualspatial, constructional, and motor skills
  • “Cluttering speech”
  • Better memory for structured info than abstract info
  • Executive deficits, deficits in attention, slow processing speed
  • Hypotonia in infants, balance problems in adulthood
  • Poor fine motor and oral motor skills, eye contact
  • Social anxiety, “approach-withdrawal behavior
67
Q

What is “cluttering speech” observed in those with Fragile X syndrome?

A

Characterized by incomplete sentences, short bursts of two- to three- word phrases, echolalia, palilia, perseveration, poor articulation, and stuttering

68
Q

What causes Turner syndrome?

A
  • A missing or abnormal second X chromosome

- Only occurs in females

69
Q

What are characteristic physical and medical features of Turner Syndrome?

A
  • Short stature and a webbed neck
  • Cardiovascular malformations, congenital heart disease, and kidney malformations are common
  • Many develop osteoporosis and are infertile
  • 30% have thyroid disorder
  • Reduced life expectancy of up to 13 years
70
Q

What is the neuropathology of TS?

A
  • Decreased volumes of parietal and occipital cortices (deficits in visuospatial processing)
  • Abnormal structure and function of amygdala, insula, anterior cingulate, ventromedial prefrontal cortex, and orbitofrontal cortex (social/affective deficits)
  • Dysfunctional frontoparietal circuitry (visuospatial WM deficits)
  • Agenesis or anatomical differences of the corpus collosum
71
Q

What is the typical disease course for TS?

A
  • Early developmental motor delays
  • Median age of diagnosis: 6 years
  • 20-30% undergo puberty spontaneously
  • Estrogen/progesterone replacement therapy is usually require for breast/pubertal development and bone density
  • Growth hormone therapy is initiated in childhood
72
Q

Describe the expectations for neruopsychological assessment results for those with TS.

A
  • Spatial, math, and social skills deficits (like a NVLD)
  • Mean IQ from 92-102
  • Significantly stronger verbal than nonverbal IQ
  • Deficits in visuospatial, visual perceptual, and visual motor skills
  • Very poor spatial orientation
  • Greater deficits in visual rather than verbal memory
  • Deficits in spatial WM and processing speed
  • Difficulties on verbal executive tasks
  • Early motor deficits
  • Risk for hearing loss prematurely
  • Anxiety, depression
  • Social difficulties d/t social immaturity
  • Pragmatic language and theory of mind deficits
73
Q

What causes phenylketonuria (PKU)?

A
  • Mutation in the phenylalanine hydroxylase gene, which normally inhibits the metabolism of phenylalanine (phe) into tyrosine (tyr)
  • If untreated, leads to accumulation of phe into the blood and low levels of tyr
  • Identified through newborn screening blood test
  • 1 in 50 are carriers; autosomal recessive
74
Q

What is the treatment for PKU?

A
  • Phe-restricted diet

- This can mitigate many cognitive and neurologic difficulties

75
Q

What is the neuropathology of UNtreated PKU?

A
  • Hypomyleination and gliosis
  • Progressive WM degeneration
  • Delay or arrest in development of cerebral cortex
  • Diffuse cortical atrophy and reduced dendritic arboraization
76
Q

What is the neuropathology of treated PKU?

A
  • WM abnormalities: abnormal myelination, T2 hyperintensities- most common in occipital-parietal regions
  • Volume loss in the cerebrum, corpus collosum, hippocampus, and pons
77
Q

What percentage of untreated individuals with PKU have significant neurologic dysfunction?

A
  • 75%
  • 5% have a progressive neurologic disorder (supranuclear motor)
  • Those treated can have a normal lifespan
78
Q

What is the typical course for untreated or late-treated children who have PKU?

A
  • Appear physically normal but present with hypotonia, irritability, and feeding difficulites
  • Musty odor d/t excretion of phenylacetic acid
  • At 4-6 months develop progressive psychomotor retardation and seizures
  • Cognitive deterioration over the next 3-4 years & sig behavioral problems (OCD, self-injurious behaviors)
  • IQ is usually below 50 and remaines stable
79
Q

What is the course for children w/ PKU treated in early childhood when they start exhibiting developmental delays?

A
  • Most have IQs in mild to moderate ID range

- Almost always exhibit learning problems

80
Q

What are the neuropsychological findings in those wih early treated PKU?

A
  • IQ is average
  • Deficient math d/t visuospatial/perceptual weaknesses
  • EF/working mem deficits
  • Visuoperceptual and spatial deficits
  • Memory is intact
  • Deficits in selective and sustained attention
  • Reduced processing speed (primary deficit in adults)
  • Fine motor deficits
  • Hyperactivity, impulsivity, poor social competence, depression, and anxiety
81
Q

What causes Prader-Willi Syndrome (PWS)?

A

Lack of paternally expressed genes in q11-q13 region of chromosome 15

82
Q

What are the core characteristics of PWS?

A
  • Hyperphagia (excessive eating)
  • Neonatal hypotonia
  • Hypogonadism (males are typically infertile)
  • Obesity
  • Mild to moderate MR
83
Q

What are the structural neuroanatomical abnormalities of PWS?

A
  • Morphological changes in the pituitary gland
  • Reduction in number of cells in the paraventricular nucleus of the hypothalamus
  • Ventriculomegaly
  • Decreased volume in parieto-occipito lobe
  • Sylvian fissure poly microgyria
  • Incomplete insular closure
84
Q

What are connectivity abnormalities in PWS?

A
  • Higher trace value in L frontal WM and L dorsomedial thalamus
  • FA is significantly reduced in posterior limb of the internal capsule, right frontal WM, and spelnium or corpus callosum
85
Q

What are the abnormalities in brain regions related to eating in those with PWS?

A
  • Differences in the amygdala and orbital frontal cortex
  • Delayed response to glucose ingestion in areas related to satiety (hypothalamus, insula, ventromedial prefrontal cortex, and nucleus accumbens)
86
Q

Name complications associated with PWS.

A
  • Respiratory issues (restrictive lung disease and OSA)
  • GI complications
  • Obesity & related complications
  • Diminished lifespan d/t respiratory failure
87
Q

What are the 2 clinical phases of PWS?

A

1) Neonatal phase

2) Hyperphagic phase

88
Q

Describe the neonatla phase of PWS.

A
  • Starts at birth and lasts 1-3 years
  • Hypotonia and hyporeflexia are seen
  • Feeding difficulties begin
  • Developmental motor and language milestons are delayed
89
Q

Describe the hyperphagic phase of PWS.

A
  • Begins between 2 and 6 years of age
  • Interest in food becomes excessive
  • Covert eating and staling food occurs
  • Behavioral problems begin
90
Q

Is there a cure for PWS?

A

No, early diagnosis and intervention are important for behavioral and dietary problems
-Psychotropic meds can help with behavioral issues

91
Q

What are typical neuropsychological results for those with PWS?

A
  • Mild to moderate ID
  • Adaptive functioning worse than IQ
  • Nonverbal skills > verbal skills
  • Visual processing > auditory processing
  • Speech and language deficits
  • 25-50% meet criteria for ADHD (hyperactivity)
  • Hypotonia and motor problems
  • Behavioral problems, compulsions, ritualistic behaviors, self-injurious behaviors
  • Greater risk for psychiatric disorders
92
Q

What disease is caused by lack of maternally expressed genes in q11-q13 region of chromosome 15?

A

Angelman Syndrome (AS)

93
Q

What are the core characteristics of AS?

A
  • Severe ID
  • Ataxic gait
  • Epilepsy
  • Severe speech/language delays
  • Repetitive sterotyped behaviors
  • Sensory seeking behaviors
  • Happy disposition w/ inappropriate laughter
94
Q

Describe the neuropathology of AS.

A
  • Generally normal brain structures

- Characteristic EEG pattern

95
Q

What is the characteristic EEG pattern observed in AS?

A
  • Symmetrical high-voltage slow wave activity
  • Very large amplitude slow activity occurring in runs and prominent in frontal regions
  • Spike and sharp waves mixed with large amplitude cycles seen posteriorly and provoked by eye closure
  • In those > 10 yrs olf background rhythm is slower than normal
96
Q

What percentage of individuals with AS are diagnosed with epilepsy, have movement/balance disorder, or a developmental delay?

A
  • Epilepsy: 80-90%
  • 100% have movement or balance disorder
  • 100% have a severe developmental delay
  • Sleep disorders are also common
  • Lifespan is normal
97
Q

What is the disease course of AS?

A
  • Developmental delay around 6 months; plateau in development btw 24 and 30 months
  • Seizure onset btw 1 and 5 that diminish in late childhood and return in adulthood
  • Hyperkinetic movements present in infancy
  • 10% fail to achieve walking
  • Motor stereotypies are common
  • Facial characteristics more pronounced in adolescence and adulthood
98
Q

What are typical neuropsychological assessment results for those with AS?

A
  • Testing is difficulty d/t attention problems, hyperactivity, and lack of speech and motor control
  • Language is significantly impaired
  • Attention span is short
  • Behavioral uniqueness: frequent laughing, happy demeanor, easily excitable personality
99
Q

What is aneuploidy?

A

An abnormal number of chromosomes

100
Q

What is a conversational stereotype?

A

Repetitive use of certain overlearned phrases during conversation

101
Q

What is a de novo mutation?

A

A genetic mutation that is present for the first time in a family member and not passed down by either parent.

102
Q

What are repetitions of another’s verbalizations?

A

Echolalia

103
Q

What is a tumor arising from the ependyma called?

A

Ependymoma

104
Q

What is a glioma?

A

Tumor arising from glial cells in the brain or spine.

105
Q

What is the term for male breast enlargement?

A

Gynecomastia

106
Q

What is a hamartoma?

A

Benign, focal malformation of tissue that has developed in a disorganized manner

107
Q

What is the term for diminished function of testes and ovaries resulting in reduced sex hormones and cell production?

A

Hypogonadism

108
Q

What is hypomyelination?

A

Abnormal formation of myelin in the brain or spinal cord resulting in reduced myelin

109
Q

What is the term for the number and appearance of chromosomes?

A

Karyotype

110
Q

What is macroorchidism?

A

Abnormally large testicles

Michroorchidism is the term for abnormally small testicles

111
Q

What is a tumor arising from the meninges called?

A

Meningioma

112
Q

What are cells with two different karyotypes present in the same individual called?

A

Mosaic karyotype

113
Q

What is palilalia?

A

Repetition of one’s own word or phrase

114
Q

What is a schwannoma?

A

Benign nerve sheath tumor composed of Schwann cells. Schwann cells produce myelin sheath covering peripheral nerves