Chromosomal/Genetic Syndromes Flashcards
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
Describe the facial dysmorphology seen in Williams syndrome.
- "Elfin" appearance
- Broad bow
- Flat nasal bridge
- Short upturned nose
- Wide mouth with full lips
- Starburst iris pattern
26
What are the cognitive/behavioral characteristics of Williams syndrome?
- 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
What is the neuropathology of WIlliams syndrome?
- 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
What is the morbidity and mortality of Williams syndrome?
- 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
What is the typical disease course in Williams Syndrome/
- 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
What are the key physical and medical characteristics of 22q11.2 deletion syndrome?
- 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
What are other names for 22q11.2 deletion syndrome?
DiGeorge syndrome, Shprintzen syndrome, or velo-cardio-facial syndrome
32
Is 22q11.2 deletion syndrome inherited?
10% of cases are inherited from a parent in an autosomally dominant pattern while 90% are due to de novo mutations
33
What is the neuropathology of 22q11.2 deletion syndrome?
- 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
What is the morbidity and mortality of 22q11.2 deletion syndrome?
- 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
What are the typical cognitive and behavioral characteristics of 22q11.2 deletion syndrome?
- 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
What is the risk of developing schizophrenia in those with 22q11.2 deletion syndrome?
25x the general population
37
What is an x-linked, recessive disorder affecting CNS myelin and the andrenal cortex?
Adrenoleukodystrophy (ALD)
38
What is the biochemical basis for ALD?
Defective oxidation of very-long-chain fatty acids which accumulate in plasma, brain, and adrenal cortex.
39
What is the disease course of ALD?
Neurodegenerative with death occurring 2-3 years after clinical onset
40
Describe the genetics behind ALD?
- X-linked recessive
- X-linked disorder so males show greater deficits
- Heterozygous females show mild to moderate myeloneuropathy after age 40
41
What are the 4 main phenotypes of ALD?
- Cerebral inflammatory: divided into childhood cerebral, adolescent, and adult
- Adrenomyeloneuropathy
- Addison-only
- Asymptomatic
42
What is the most common phenotype of ALD?
- 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
What is the age of onset of Adolescent and adult ALD?
- 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
Describe the adrenomyeloneuropathy phenotype of ALD,
- Onset is 28 years on average
- Involves mainly spinal cord and peripheral nerve involvement
- Progressive over decades
45
Describe the Addison-only phenotype of ALD,
- Onset before 7.5 years
| - Primary adrenal insufficiency without neurologic involvement
46
Describe the asymptomatic phenotype of ALD,
- Common <4 yrs of age
| - Gene abnormality without adrenal or neuroloigic defecit
47
What is the neuropathology of ALD?
- 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
What percent of those with ALD have adrenal insuffiency?
90%
49
What percent of those with ALD have psychiatric symptoms?
56%
50
What is the disease course of ALD?
- 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
What is the only effective long-term treatment of ALD?
- 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
What is the typical cognitive pattern of ALD?
- 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
What is the most common sex chromosome aneuploidy seen in males?
- Klinefelter Syndrome
| - Results from the presence of an extra X chromosome (47,XXY)
54
What are they key physical/medical characteristics of Klinefelter Syndrome?
- Tall stature
- Hypogonadism
- Fertility problems
- Hypotonia
- Hypertelorism
- Clinodactyly
- Hyperextensible joints
- Flat feet
55
What are the cognitive/behavioral characteristics of Klinefelter syndrome?
- Language deficits
- Dyslexia
- ADHD
- Anxiety/depression
56
What percentage of those with Klinefelter syndrome are diagnosed prenatally, in childhood, and in puberty?
-10, 25, and 65%
57
What is the neuropathology of Klinefelter syndrome?
- 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
What percentage of those with Klinefelter syndrome are diagnosed with ADHD, ASD, and LD (predominantly dyslexia)?
- ADHD: 35-65%
- ASD: 5-10%
- LD: 50-75%
59
What is the typical disease course for Klinefelter syndrome?
- 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
What are other medical problems that can occur in Klinefelter syndrome?
Osteoporosis, autoimmune disease, thyroid problems, intention tremor, and type II diabetes
61
What are typical neuropsych results for a male with Klinefelter syndrome?
- 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
What causes Fragile X syndrome?
- 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
What is the neuropathology of Fragile X syndrome?
- 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
What are morbidity and mortality stats of Fragile X syndrome?
- 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
What is the typical disease course for those with Fragile X syndrome?
- 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
What are expectations for neuropsychological results in individuals with Fragile X syndrome?
- 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
What is "cluttering speech" observed in those with Fragile X syndrome?
Characterized by incomplete sentences, short bursts of two- to three- word phrases, echolalia, palilia, perseveration, poor articulation, and stuttering
68
What causes Turner syndrome?
- A missing or abnormal second X chromosome
| - Only occurs in females
69
What are characteristic physical and medical features of Turner Syndrome?
- 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
What is the neuropathology of TS?
- 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
What is the typical disease course for TS?
- 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
Describe the expectations for neruopsychological assessment results for those with TS.
- 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
What causes phenylketonuria (PKU)?
- 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
What is the treatment for PKU?
- Phe-restricted diet
| - This can mitigate many cognitive and neurologic difficulties
75
What is the neuropathology of UNtreated PKU?
- Hypomyleination and gliosis
- Progressive WM degeneration
- Delay or arrest in development of cerebral cortex
- Diffuse cortical atrophy and reduced dendritic arboraization
76
What is the neuropathology of treated PKU?
- WM abnormalities: abnormal myelination, T2 hyperintensities- most common in occipital-parietal regions
- Volume loss in the cerebrum, corpus collosum, hippocampus, and pons
77
What percentage of untreated individuals with PKU have significant neurologic dysfunction?
- 75%
- 5% have a progressive neurologic disorder (supranuclear motor)
- Those treated can have a normal lifespan
78
What is the typical course for untreated or late-treated children who have PKU?
- 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
What is the course for children w/ PKU treated in early childhood when they start exhibiting developmental delays?
- Most have IQs in mild to moderate ID range
| - Almost always exhibit learning problems
80
What are the neuropsychological findings in those wih early treated PKU?
- 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
What causes Prader-Willi Syndrome (PWS)?
Lack of paternally expressed genes in q11-q13 region of chromosome 15
82
What are the core characteristics of PWS?
- Hyperphagia (excessive eating)
- Neonatal hypotonia
- Hypogonadism (males are typically infertile)
- Obesity
- Mild to moderate MR
83
What are the structural neuroanatomical abnormalities of PWS?
- 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
What are connectivity abnormalities in PWS?
- 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
What are the abnormalities in brain regions related to eating in those with PWS?
- 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
Name complications associated with PWS.
- Respiratory issues (restrictive lung disease and OSA)
- GI complications
- Obesity & related complications
- Diminished lifespan d/t respiratory failure
87
What are the 2 clinical phases of PWS?
1) Neonatal phase
| 2) Hyperphagic phase
88
Describe the neonatla phase of PWS.
- Starts at birth and lasts 1-3 years
- Hypotonia and hyporeflexia are seen
- Feeding difficulties begin
- Developmental motor and language milestons are delayed
89
Describe the hyperphagic phase of PWS.
- Begins between 2 and 6 years of age
- Interest in food becomes excessive
- Covert eating and staling food occurs
- Behavioral problems begin
90
Is there a cure for PWS?
No, early diagnosis and intervention are important for behavioral and dietary problems
-Psychotropic meds can help with behavioral issues
91
What are typical neuropsychological results for those with PWS?
- 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
What disease is caused by lack of maternally expressed genes in q11-q13 region of chromosome 15?
Angelman Syndrome (AS)
93
What are the core characteristics of AS?
- Severe ID
- Ataxic gait
- Epilepsy
- Severe speech/language delays
- Repetitive sterotyped behaviors
- Sensory seeking behaviors
- Happy disposition w/ inappropriate laughter
94
Describe the neuropathology of AS.
- Generally normal brain structures
| - Characteristic EEG pattern
95
What is the characteristic EEG pattern observed in AS?
- 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
What percentage of individuals with AS are diagnosed with epilepsy, have movement/balance disorder, or a developmental delay?
- Epilepsy: 80-90%
- 100% have movement or balance disorder
- 100% have a severe developmental delay
- Sleep disorders are also common
- Lifespan is normal
97
What is the disease course of AS?
- 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
What are typical neuropsychological assessment results for those with AS?
- 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
What is aneuploidy?
An abnormal number of chromosomes
100
What is a conversational stereotype?
Repetitive use of certain overlearned phrases during conversation
101
What is a de novo mutation?
A genetic mutation that is present for the first time in a family member and not passed down by either parent.
102
What are repetitions of another's verbalizations?
Echolalia
103
What is a tumor arising from the ependyma called?
Ependymoma
104
What is a glioma?
Tumor arising from glial cells in the brain or spine.
105
What is the term for male breast enlargement?
Gynecomastia
106
What is a hamartoma?
Benign, focal malformation of tissue that has developed in a disorganized manner
107
What is the term for diminished function of testes and ovaries resulting in reduced sex hormones and cell production?
Hypogonadism
108
What is hypomyelination?
Abnormal formation of myelin in the brain or spinal cord resulting in reduced myelin
109
What is the term for the number and appearance of chromosomes?
Karyotype
110
What is macroorchidism?
Abnormally large testicles
Michroorchidism is the term for abnormally small testicles
111
What is a tumor arising from the meninges called?
Meningioma
112
What are cells with two different karyotypes present in the same individual called?
Mosaic karyotype
113
What is palilalia?
Repetition of one's own word or phrase
114
What is a schwannoma?
Benign nerve sheath tumor composed of Schwann cells. Schwann cells produce myelin sheath covering peripheral nerves
