Orals Flashcards
Adderall
stimulant
Dyanavel
stimulant
Concerta
stimulant
Cotempla
stimulant
Ritalin
stimulant
Daytrana
stimulant
Jornay
stimulant
Quillivant
stimulant
Focalin
stimulant
Vyvanse
stimulant
Azstarys
stimulant
Strattera
non-stimulant (atomoxetine)
Intuniv
non-stimulant (guanfacine)
Qelbree
non-stimulant (viloxazine)
Kapvay/clonidine
non-stimulant (clonidine)
Treats HBP
Catecholamines
dopamine & norepinephrine (stimulants act on both of these)
Wellbutrin
antidepressant sometimes prescribed as non-stimulant (increases dopamine)
Tegretol
anti-seizure medication (carbamazepine)
Lamictal
anti-seizure medication (lamotrigine)
Keppra
anti-seizure medication (levetiracetam)
Trileptal
anti-seizure medication (oxcarbazepine)
Phenobarbital
anti-seizure medication
Topamax
anti-seizure medication (topiramate)
Valproic acid
anti-seizure medication
Describe the “80/20” stroke rule in children and adolescents
80% ischemic, anterior distribution
20% hemorrhagic, posterior distribution
ACA/MCA/PCA stroke neuro deficits
ACA - frontal lobe dysfunction, lower motor extremity weakness
MCA (most common) - face and upper motor extremity weakness, aphasia, visuospatial, anosagnosia supplies BG gaze preference toward lesion
PCA - homonymous hemianopia
Perinatal stroke
typically refers to strokes occurring between approximately 20 weeks gestation and the first 28 days of life.
Prevalence of ID with range of severity
85% mild (~ 6th grade level)
10% moderate (~2nd grade level)
3-4% severe
1-2 profound
Common environmental and preventable cause of ID is…
Fetal alcohol syndrome.
Consistent neuropathological findings of people with autism
Brain size is often larger than average in younger subjects
–> brain size is normal or slightly small at birth, followed by a growth spurt between six and 24 months that results in larger than average brains, followed by a slowed growth that returns the brain size to average by later childhood.
–> corpus callosum is typically undersized and not enlarged proportionally to overall enlargement of the brain
Comorbid conditions of ASD
ID (40–70%)
ADHD (>55%)
Anxiety disorders (22–84%)
Depression (4–58%),
Tic disorders (6%)
Seizure disorders (11–39%; more common in cases with comorbid ID)
Imaging studies of ASD individuals have shown:
- delayed maturation of frontal lobes
- reduced activation of the amygdala during processing of facial emotion
- enlargement of lateral ventricles
SLD prevalence in U.S.
15–20%
visual word form area
A region in the left occipitotemporal cortex, including the middle part of the left fusiform gyrus, devoted to rapid processing of written words
the brain’s “letterbox”
neural signature of dyslexia
During tasks requiring phonological analysis:
underactivation in Wernicke’s area, angular gyrus, and striate cortex
with concurrent overactivation in the inferior frontal gyrus
Comorbid conditions of dyslexia
Oral language deficits (55%)
Mathematics disabilities (55%)
ADHD (25–40%)
Double-Deficit Model of Reading Disabilities
Rapid naming speed (single-deficit) and phonological awareness
(single-deficit)
Late-emerging reading disabilities
reading deficits are not evident until at least third grade (~40%)
- associated with learning to read to reading to learn
- often associated with
coexisting conditions, especially ADHD
Implicated brain regions in math disorder
several brain regions within the posterior parietal cortex, including the intraparietal sulcus, the supramarginal gyrus, and the angular gyrus.
Implicated brain regions in dysgraphia/written language disorder
alterations in white matter microstructure in several brain regions, predominantly within the left hemisphere
Medical Conditions that are associated with high risk of math SLD
spina bifida and congenital hydrocephalus (occurs more than 50%)
Older adolescents and adults must have at least ?? of nine symptoms in each symptom category.
5 (for ages 17 years and older)
Pathophysiology of ADHD
- underactivation in frontocortical and frontosubcortical networks
- basal ganglia (particularly anterior caudate nucleus) abnormalities are the most consistent finding
- abnormal cortical maturation (or delayed maturating) within the frontal and temporal lobes
Heritability of ADHD
30–35% of first-degree relatives of children with ADHD also have the disorder, for a relative risk of 6 to 8 times that of the general population.
Treatment of ADHD symptoms with stimulants in children with epilepsy is:
effective, but carries increased (small) risk of seizure exacerbation in some children
Describe heritability of ADHD
70-80% in twin studies and 5-10x increased risk if 1st degree relative has ADHD
Components of sluggish cognitive tempo (SCT) not included in ADHD inattentive presentation diagnosis:
lethargy/excessive sleepiness
underactivity
slowness
Most common neurological complications of preterm birth
Periventricular hemorrhagic infarction (PVHI)
- infarction that is most frequently a complication of a large IVH
- results in asymmetric necrosis of the periventricular white matter
periventricular leukomalacia (PVL) - which can be considered a Hypoxic-ischemic encephalopathy (HIE)
- Focal necrotic lesions occur in the border end zones of MCA, PCA, ACA
- Increases the risk for CP, specifically spastic diplegia (stiff legs). More extensive PVL can include involvement of the upper extremities as well.
germinal matrix
a highly vascularized region of the developing brain located underneath the lateral ventricles, and hemorrhage in this area (i.e., germinal matrix hemorrhage, GMH) is a devastating neurological disease in premature infants that results in substantial mortality and morbidity.
it is located in a vascular watershed zone
by 36 weeks gestational age the germinal matrix has largely disappeared reducing risk for hemorrhage in this area
Intraventricular Hemorrhage (IVH) Grade
Grade 1 - bleeding confined to germinal matrix
Grade 2 - bleeding into ventricles but w/o ventricular dilation
Grade 3 - bleeding resulting in ventricular dilation
Grade 4 - large hemorrhage with associated PVHI in the parenchyma
Children with prematurity IVH develop hydrocephalus because of a hemorrhage involving the germinal matrix shortly after birth.
Hydrocephalus is caused by bleeding into the ventricles from a germinal matrix hemorrhage in very-low-birth-weight infants
Grades III and IV are associated with hydrocephalus.
hydrocephalus is more often arrested and nonprogressive (compared to myelomeningocele and aqueductal stenosis)
arrested = balance between production and absorption is restored
What accounts for the vast majority of preterm/low birthweight births.
Multiple births (twin and triplet/+)
The current threshold of biological viability is considered to be…?
- 23 weeks gestational age in high-income countries
- 34 weeks in low- and lower middle-income countries.
When does IVH occur?
- 50% of all IVH occurring in the first 6 to 8 hours of life
- 95% occurring within the first 4 to 5 days.
Complications in preterm infants
- hypoxic/ischemic neurological events
- Bronchopulmonary dysplasia (BPD)/chronic lung disease
- apnea of prematurity
- necrotizing enterocolitis (NEC) - condition inflames intestinal tissue, causing it to die d/t bacterial leakage into the belly or bloodstream (25% mortality rate)
- retinopathy of prematurity,
- septicemia/sepsis
- patent ductus arteriosus (PDA)
- respiratory distress syndrome (seen in infants 28 weeks or earlier, d/t lack of surfactant
- pulmonary hypertension
Common neuropsychological sequelae among preterm children
- attention/EF
- processing speed
- visuospatial skills (possibly due to injury proximity to optic radiations and dorsal ventral stream)
- general memory recall
- sensorimotor (VMI, dexterity)
- behavioral concerns (hyperactivity, poor social skills)
Hypoxic-ischemic encephalopathy (HIE)
term used to describe encephalopathy caused by a reduction in cerebral oxygenation and blood flow.
the specific cause or contribution of each risk factor of preterm baby to HIE is often uncertain.
Intrauterine growth restriction (IUGR)
Refers to poor growth of a fetus during pregnancy - when the developing fetus’s weight falls below the 10th %ile compared to other babies of equal gestational age
most commonly it is associated with a fetus not receiving enough oxygen and nutrition from the placenta during pregnancy
IUGR is associated with abnormal development of frontal brain regions
Intraventricular hemorrhage (IVH)
Refers to increased vascular pressure and consequent vessel rupture and hemorrhage.
Earlier onset of IVH is associated with more severe grade.
90% of all IVH occur in the first four days of life
Even in infants with the lowest grades of IVH, increased incidence of learning disability is apparent.
Imaging used in preterm infants.
early ultrasound is helpful in the detection of IVH and more severe white matter damage, it is limited in its ability to detect more subtle forms of white matter damage.
In contrast, MRI is more sensitive in detecting more subtle forms of white matter damage in preterm infants.
Periventricular hemorrhagic infarction (PVHI)
- infarction that is most frequently a complication of a large (grade 4) IVH
- results in asymmetric necrosis of the periventricular white matter
periventricular leukomalacia (PVL)
- can be considered a Hypoxic-ischemic encephalopathy (HIE)
- Focal necrotic lesions occur in the border end zones of MCA, PCA, ACA
- Increases the risk for CP d/t abnormal functions of the corticospinal tract
specifically spastic diplegia (stiff legs). More extensive PVL can include involvement of the upper extremities as well.
Neuropsychological outcomes in preterm vs IUGR
IUGR: lower IQ, executive functioning weaknesses, and academic problems
Preterm: visuospatial deficits (possibly d/t injury proximity to optic radiations and dorsal ventral stream) and motor deficits
Three disorders of neurofibromatoses
neurofibromatosis type 1 (NF1) - skin and bone abnormalities resulting from tumors growing along the nerves
most common and associated with ND deficits
neurofibromatosis type 2 (NF2) - bilateral acoustic schwannomas on the eighth cranial nerve, meningiomas, and ependymomas.
schwannomatosis - associated with schwannomas and chronic pain
All have the development of nerve sheath tumors in common.
Neurofibromatosis type 1
neurocutaneous autosomally dominant genetic disorder
diagnostic criteria includes at least two:
- Six or more café-au-lait macules
- Two or more neurofibromas
- Freckling in groin
- Optic glioma*
- Two or more Lisch nodules (iris abnormality)
- A distinctive bony lesion
- A first-degree relative with NF1
NF1 neuropathology
Brain tumors are seen in 15% of people before age 6, usually optic gliomas
- optic gliomas thought to NOT have cognitive impact but radiation to treat can effect functioning
Macrocephaly (30–50%)
Hyperintensities: focal lesions to areas of basal ganglia, cerebellum, thalamus, brainstem, and subcortical white matter (these are not associated with degree or presence of cog impairment)
- resolve by early childhood
NF1 neurocognitive sequelae
- Leftward shift of IQ (89-98)
- 4-8% ID
- 30–65% SLD
- Language deficits
- 30–50% ADHD (EF too); occurs equally in boys and girls
- Higher incident of internalizing disorders and social difficulties
Tuberous sclerosis complex
autosomally dominant neurocutaneous disorder
- multi-system genetic disease that causes non-cancerous (benign) tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin.
arises from one of two genes: TSC1 or TSC2
tuberous sclerosis complex clinical manifestations
80–90% seizures
45% ID
40–50% ASD
25–50% ADHD
50% behavior problems (aggression, temper tantrums, self-injury)
The term “tuberous sclerosis-associated neuropsychiatric disorders” (TAND) is now used to describe the constellation of intellectual, behavioral, and psychosocial difficulties associated with TSC.
Sturge-Weber syndrome
neurocutaneous disorder with the defining characteristics:
- port-wine birthmark (facial capillary malformation)
- vascular malformation of the brain (leptomeningeal angioma) usually seen in occipital and temporal lobes on same side as port-wine birthmark
- most people with vascular malformation of the brain have seizures - contralateral side to port wine birthmark
- glaucoma (30–60%)
Common neurocutaneous disorders
NF1 (and 2)
Tuberous sclerosis complex
Sturge-Weber syndrome
Sturge-Weber syndrome clinical manifestations
- Seizures (75-95%) typically occur on the side of the body contralateral to the port-wine birthmark
- Headaches and migraines are common
Sturge-Weber syndrome neuropsychological expectations
50–60% ID
Attention and processing speed
Disruptive behavior
William syndrome neurobehavioral characteristics
- Hypersociability with poor social judgment
- Majority have IQ in the range of ID, with uneven skills.
**Verbal (reading, memory) > nonverbal (math, memory)
Hallmark: impaired visuospatial functioning but object/face recognition intact…
“Individuals with WS tend to take a local/featural rather than a global/configurational approach when completing constructional tasks and processing faces, suggesting that the dorsal visual stream is dysfunctional while the ventral visual stream remains intact.” - Fine and gross motor deficits
- 85–95% sound hypersensitivity
- 50-95% anxiety/specific phobias
- 50–65% ADHD
22q11.2 Deletion Syndrome/DiGeorge syndrome
90% spontaneous mutations
multiple congenital anomalies including cardiac malformations (75%), hypocalcemia, mild conductive hearing loss, and palatal defects (70%)
22q11.2 Deletion Syndrome clinical manifestations
- 30–40% ADHD
- 30–40% anxiety disorders, especially specific phobias and separation anxiety
- 10–30% ASD.
- 82–100% have learning difficulties.
- 20–30% mood disorder, including major depression and bipolar disorder.
- 25–35% psychotic disorder greatest concern
22q11.2 deletion syndrome neuropsychological expectations
- borderline IQ
- verbal (reasoning, attention, memory) > visual (deficits: visuospatial, visual-perceptual, and visual-motor skills, visual memory and attention)
- Math difficulties are common
- Gross motor deficits > fine motor deficits
Klinefelter syndrome
only seen in males
resulting from the presence of an extra X chromosome
associated with characteristic physical features including tall stature, hypogonadism, and fertility problems.
most not diagnosed until after puberty when testosterone deficiency results in slow or incomplete pubertal development
Klinefelter syndrome clinical manifestations
- 35–65% ADHD.
- 5–10% ASD.
- 50–75% LD, predominantly dyslexia
Higher rate of psychotic symptoms
Klinefelter syndrome neuropsychological expectations
IQ generally average
nonverbal > verbal skills
attention and processing speed problems
Fine and gross motor deficits
Higher rates of anxiety, depression, social problems (can be d/t pragmatic language difficulties)
Fragile X Syndrome
results from a repetition (>200) in the CGG trinucleotide sequence at Xq27.3.
- premutation carriers have 55– 200 repeats
Males are more significantly affected than females. As females have two X chromosomes, with the FXS mutation on only one of those, the other one can normally produce FMR1 protein, thus lessening the mutation’s impact on development.
Fragile X syndrome is the leading cause of inherited ID and the most common single gene disorder associated with autism.
Fragile X syndrome clinical manifestations
10–20% epilepsy; Fragile X has it’s own EEG pattern
40% (males) and 10% (females) develop fragile X-associated tremor/ataxia syndrome (FXTAS), characterized by progressive gait ataxia, intention tremor, parkinsonism, peripheral neuropathy, short-term memory loss, and executive dysfunction.
25–47% of males are diagnosed with autism
70–90% of males and 30–50% of females are diagnosed with ADHD
80% of males (moderate to severe). and 30% of females (mild) are diagnosed with ID
Developmental delays are usually the first signs of FXS.
Fragile X syndrome neuropsychological expectations
Permutation carriers usually have normal IQ
80% of males (moderate to severe). and 30% of females (mild) are diagnosed with ID
Girls without ID: increased math SLD (math problems have been linked to visuospatial deficits)
tend to be more broad based cognitive
Deficits are seen in visuospatial, visual-constructional, and visual- motor skills, whereas visuoperceptual skills are relatively intact
“Cluttering” has been used to describe the speech of individuals with FXS: incomplete sentences, short bursts of two- to three- word phrases, echolalia, palilalia, perseveration, poor articulation, and stuttering.
EF deficits: working memory and cognitive flexibility
High occurrence of ASD
Turner syndrome
only seen in females
results from a missing or abnormal second X chromosome.
Girls with TS have characteristic physical features, including short stature and a webbed neck. Cardiovascular malformations, congenital heart disease, and kidney malformations are common.
Turner syndrome neuropsychological expectations
- 25% ADHD
- 45–55% math disability
Nonverbal deficits are a hallmark of TS (visuospatial, visual- perceptual, and visual-motor skills, memory)
reading is a strength
Given spatial, math, and social skills deficits, many girls with TS display traditional features of NLD.
EF deficits (planning, cognitive flexibility, and spatial working memory)
Deficits in spatial working memory and slow processing speed may be the primary deficits underlying more general nonverbal and EF difficulties and math problems. This is unlike in girls with FXS, in whom math problems have been linked to visuospatial deficits.
Pragmatic language deficits are also seen
Phenylketonuria (PKU)
results from a mutation in the phenylalanine hydroxylase (PAH) gene, which normally inhibits the metabolism of phenylalanine (Phe) into tyrosine (Tyr).
Standard treatment requires a Phe-restricted diet throughout life; adherence to the diet can mitigate many cognitive and neurological difficulties.
Phenylketonuria is usually identified through newborn screening blood tests.
Phenylketonuria (PKU) progression
Untreated infants:
- appear normal at birth
- typically have a musty odor due to excretion of phenylacetic acid
- 4 to 6 months: infants gradually develop progressive psychomotor retardation and may develop seizures. - Cognitive deterioration occurs over the next 3 to 4 years.
- Significant behavior problems are seen (obsessive-compulsive rituals, self-injurious behavior, and extreme tactile sensitivity)
- The IQ of untreated individuals is usually below 50 and remains stable into and throughout adulthood.
Late-treated children:
- Children missed on newborn screenings are eventually diagnosed in early childhood when they start exhibiting significant developmental delays.
- eventual developmental outcome is variable for those treated, but visuospatial deficits tend to persist
Phenylketonuria (PKU) neuropsychological expectations for early treated
average IQ
processing speed deficits are hallmark
Visuoperceptual and visuospatial deficits
13–46% of treated individuals are diagnosed with ADHD; typically the inattentive subtype.
EF deficits
Reading and spelling intact
Math is deficient d/t visuospatial/perceptual weaknesses, EF/working memory deficits
Neurocognitive skills are correlated with phenylalanine (Phe) levels in blood
Prader-Willi syndrome (PWS)
Results from the lack of paternally expressed genes in the q11-q13 region of chromosome 15 (called the PWS critical region or PWSCR).
Hallmark:
- Hyperphagia (excessive eating, begins between 2 and 6 years of age.)
- neonatal hypotonia (seen throughout life)
- hypogonadism
- obesity (secondary to hyperphagia, increase risk of cardiovascular problems and diabetes)
- mild to moderate intellectual disability.
Prader-Willi syndrome (PWS) neuropsychological expectations
Majority have mild to moderate ID
25% ASD
Nonverbal > verbal (including processing and memory)
Language deficits (vocabulary, grammar) are typically attributed to cognitive impairment
Hypotonia and motor problems are seen throughout life.
Behavioral problems: preoccupation with food, compulsive and ritualistic behaviors (ordering and symmetry)
High risk for psychiatric disorders, including bipolar with psychotic features, nonpsychotic mood disorders, and anxiety.
Angelman syndrome (AS)
Lack of maternally expressed genes in the q11-q13 region of chromosome 15.
Characteristics: severe ID, ataxic gait (100%), epilepsy (80-90%), severe speech/language delays (100%), repetitive/stereotyped behaviors, and sensory-seeking behaviors.
Individuals with AS tend to have a happy disposition with easily provoked and inappropriate laughter.
Angelman syndrome progress
Developmental delay is first noted around 6 months, and most individuals plateau in development between 24 and 30 months of age.
Seizure onset is typically between 1 and 5 years of age,
Angelman syndrome clinical manifestation
severe ID which limits testing
Hallmark: “Behavioral uniqueness” - frequent laughter/smiling, happy demeanor, easily excitable personality (often with hand flapping), and hypermotoric behavior.
Eye contact is good, and they are typically curious about and seek out others for interaction.
The prevalence of ASD is disputed because ASD can be incorrectly diagnosed given repetitive motor behaviors.
Prader-Willi syndrome (PWS) clinical phases
Neonatal phase (1-3 years):
- Feeding difficulties, including poor suck, lethargy, and little interest in feeding, result in decreased weight gain and failure to thrive.
- Hypotonia and hyporeflexia are typically seen.
- Delayed developmental motor and language milestones.
Hyperphagic phase (2-6 years):
- after early feeding problems, interest in food becomes more normal. However, it then becomes excessive, with constant requests for food or active foraging.
Cutaneous/skin signs of neurocutaneous disorders
NF1 - cafe au lait, neurofibromas (larger skin bumps)
Tuberous sclerosis - facial angiofibromas (smaller skin bumps around nasal cavity), seizures (from cortical tubers)
Sturge Webber - portwine birthmark
