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 6-24 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
Cognitive/learning differences among common genetic syndromes
ID: TSC, SWS, William’s, Fragile X, PKU (untreated), PWS, Angelman
BIF: 22q11.2
AVERAGE: Kleinfelter, PKU (treated)
SLD: NF1 (reading/math), 22q11.2 (math), Kleinfelter (reading), Turner (math), PKU treated (math), Fragile X girls (math)
Genetic Syndromes that have high psychiatric risk
22q11.2, Kleinfeter PWS, TSC
Neuropsychological outcomes of spina bifida
Children with spina bifida have more significant difficulties on fine motor skills because of the Chiari malformation
ADHD, predominantly inattentive presentation is common
Poor processing speed
Impaired verbal and nonverbal learning
EF difficulties are common
verbal > visual
word reading/spelling > comprehension and math
Age of CP diagnosis
No specific upper age limit - generally up to 3 years old.
CP is a clinical diagnosis that generally includes:
- clinical diagnosis = based on observable behavior (not diagnosed in utero)
- formal neurodevelopmental examination
- history of activity limitations
- MRI (frequent findings: white matter damage, cortical or subcortical lesions (particularly involving the basal ganglia), brain malformations, and postnatal injuries (including focal infarction)
Where does CP originate? (Which systems?)
In either or both of the two semi-independent motor systems of the brain
pyramidal (70-85%)
extrapyramidal (15-30%)
Pyramidal motor system
- travel through pyramids of medulla
- responsible for voluntary muscle control
Corticospinal tract:
Cerebral cortex -> internal capsule -> midbrain -> pons -> medulla (75% decussate) -> lower motor neuron (ventral horn)
Injury: spastic CP (upper motor neuron)
Corticobulbar tract (voluntary control of face, head, neck):
Cerebral cortex -> internal capsule -> lower motor neuron (brainstem/CN: 5, 7, 9-12)
Bulbar = medulla, pons, cerebellum
Injury: dysphasia, dysarthria
Extrapyramidal motor system
- do not travel through pyramids of medulla
- responsible for involuntary control (tone, balance)
- “fine tunes” movement of pyramidal system by making adjustments to posture and coordination
- originate in brainstem, cerebellum, and basal ganglia - not cortex (pyramidal)
- results in non-spastic CP
- typically involves all extremities (upper>lower)
- normal IQ
Pyramidal motor system damage results in:
Spastic CP
Spastic CP (general definition)
- results from damage to pyramidal system
- characterized by abnormally high muscle tone (tightness)
- children born preterm > full-term
- often associated with underlying periventricular leukomalacia (PVL) and/or intraventricular hemorrhage (IVH)
Spastic CP subtypes
Spastic hemiplegic (“half”) CP - arm and leg on one side of body
- arm>leg
- most common in full term children
- cause: perinatal MCA stroke
- can learn to walk and have normal IQ
Spastic diplegic CP - lower extremities, lesser degree of upper extremities
- most common in preterm children
- cause: periventrical leukomalacia (damage to white matter around ventricles)
- cognitive impairment is correlated with severity of motor disability
Spastic quadriplegic CP - ll four extremities and the trunk and neck (i.e., full body)
- caused by a generalized event such as anoxia
- injury to brain occurs prenatally (50%), perinatally (30%), and postnatally (20%)
- most severe subtype; frequently accompanied by epilepsy and cognitive impairments
Spasticity
increased muscle tone
Abnormally increased muscle tone or muscle stiffness that can interfere with functional movement and daily activities.
When severe, spasticity is characterized by uncontrollable muscle spasms.
extrapyramidal CP subtypes
Dyskinetic CP
- basal ganglia dysfunction
- trouble controlling muscle movement (twisting, abrupt movements)
- difficulty sitting comfortable and coordinating muscles for walking and speaking
- caused by hypoxic-ischemic injury typically in full-term infants
Ataxic CP
- cerebellar dysfunction
- lack of coordination during voluntary gross and fine motor movements
- poor balance, unsteadiness,
a wide-based gait, and shakiness or tremors during activities involving manual dexterity.
CP risk factors
- preterm birth (most important - though ~50% of CP are full-term)
- low birth weight (second)
- prenatal factors (low SES, maternal infections/toxic exposure, multiple birth, IUGR, brain malformations)
- perinatal (anoxic damage during delivery (10%), low Apgar at 5 mins)
- postnatal (infections-e.g., meningitis)
Injury after age 3 = CP diagnosis not accurate, rather should reflect underlying cause (e.g., TBI, stroke)
Physical outcomes in CP
1/2 = walk unaided, 1/3 = cannot walk, rest = need assistance
spasticity can result in scoliosis and/or hip dislocation
chronic pain
increased risk of epilepsy
oral motor impairments; if severe can increase aspiration
bladder control
poor sleep d/t positioning issues and discomfort
Cognitive outcomes in CP
ID (30-50%) - most common in quadriplegic CP
Early motor attainment and CP
Precocious acquisition of certain motor skills can also be a harbinger of CP:
standing well before the age of 12 months can reflect hypertonia (stiffness and rigidity) in the legs
strong hand preference in the first 12 to 18 months can indicate weakness in the other hand
% of children ultimately diagnosed with CP who have unremarkable pre- and perinatal history.
50%
Most children do not manifest full motor signs of CP until how many years?
2 years of age or beyond - a definitive diagnosis usually is made in the second or third year of life
Neuropsychological expectations of CP
CP is not associated with a prototypical neuropsychological profile, however:
language > visually-based is common
ID to BIF (50%)
SLD (25%)
Attention deficits (d/t periventricular white matter and subcortical damage, and/or epilepsy)
Periventricular leukomalacia (PVL)
Cerebral white matter necrosis around the ventricles that interrupts the output of motor tracts.
Periventricular leukomalacia results from interrupted blood flow and oxygen to the area, particularly in preterm babies of less than 32 weeks. In fact, PVL is sometimes referred to as “white matter damage of prematurity.”
The medical history most typical of spastic diplegic cerebral palsy is:
premature birth and neuroimaging findings of periventricular leukomalacia
The foremost risk factor for cerebral palsy is
premature birth.
Most robust neuropsychological findings of CP
Average IQ with visuospatial impairment and attention weaknesses
Describe typical MRI finding in (1) hemiplegic CP, (2) dyskinetic CP, and (3) spastic diplegic CP
(1) MCA stroke,
(2) hypoxic-ischemic injury,
(3) PVL
What happens when ventricular dilation occurs?
stretching and enlargement of the periventricular white matter fibers –> reductions in blood flow because of impairment to blood vessels serving the white matter.
In younger children particularly - disruption of the development of the cerebral white matter can result as well
Spina Bifida Myelomeningocele
Spina bifida (“split spine”) is a typically nonlethal neural tube defect that occurs in the first 30 days of gestation.
Most common form of spina bifida and the most common cause of congenital hydrocephalus (70% of all childhood cases)
myelomeningocele - “open” neural tube defect because spinal cord protrudes through the meninges
Neurological feature of Spina Bifida Myelomeningocele
hydrocephalus develops in about 90% of infants because of the Chiari II malformation (small posterior fossa) of the hindbrain, which causes obstruction at the fourth ventricle.
Chiari II malformation
congenital (Chiari I develops as the skull and brain are growing and may not occur until late childhood or adulthood)
almost always associated with myelomeningocele, involving a small posterior fossa in which the cerebellum is herniated and downwardly extends through the foramen magnum.
- cerebellum itself is abnormal, with additional crowding effects on the medulla (kinking) and tectum (beaking).
corpus callosum is also usually abnormal because of under-development (hypogenesis) and thinning (hypoplasia)
Meningocele
rare spinal malformation in which the meninges protrude through the spinal cord, causing a bulge in the skin. There is a sac with CSF, but usually no CNS tissue (which is a myelomeningocele). The brain of children with meningocele is often normal, although some develop hydrocephalus because of aqueductal stenosis. Problems with lower limb control and urinary problems occur below the level of the spinal lesion.
On neuropsychological tests, children with hydrocephalus secondary to spina bifida myelomeningocele and aqueductal stenosis:
show similar patterns of performance except in the motor domain, where children with spina bifida have more fine motor difficulties because of the Chiari malformation.
Which brain region is most often affected by hydrocephalus
Posterior d/t ventricle expansion damaging posterior white matter tracts (ventricles expand in a posterior to anterior direction)
This may partially explain the greater visual deficits - however, there is substantial variability between cases with shunted hydrocephalus
FASD structural brain anomalies
- Microcephaly
- Migrational anomalies
- Reductions in frontal, parietal, and temporal lobes volumes
- White matter hypoplasia > gray matter hypoplasia.
FAS prevalence
global prevalence - 10%
US <1%
FAS neuropsychological expectations
ID (25%) FAS and (10%) ARND
ADHD (60–95%)
Verbal learning and memory deficits
Behavior: impulsive, disruptive, aggressive, delinquent, poor social judgement (increased ODD, CD, and OCD)
Cocaine exposure: neuro expectations
Lower IQ
Attention/processing speed/EF
Verbal > visuospatial
Behavior: impulsive and display poor emotional control.
prenatal marijuana use: neuro expectation
- No IQ but academic underperformance
- Attention/EF deficits
- Verbal > visual
- Behavior: delinquency, mood, and behavior dysregulation
Nicotine/Tobacco exposure neuro expectation
Increased ADHD
Amphetamine neuro expectation
- Motor deficits during infancy
- Deficits in executive functions during childhood
- Poor emotional regulation
Opiates neuro expectation
Motor deficits during infancy with later deficits in executive functions and ADHD symptoms during childhood.
In utero Exposures associated with visual/spatial deficits
Cocaine
Lead
Marijuana
Neonatal seizures are frequently associated with…
hypoxic ischemic encephalopathy, 35–45%
What often contributes to childhood epilepsy?
malformations of cortical development (MCD - abnormal neuronal/glial proliferation and migration) and low-grade brain tumors
Childhood absence epilepsy
primary generalized epilepsy in that it involves widespread neural networks at seizure onset
most common epilepsy syndromes in childhood (15%)
self-limiting epilepsy syndrome - seizures typically do not
persist past adolescence
seizures can persist into adolescence and adulthood and, in approximately 15% of cases, can develop into juvenile myoclonic epilepsy.
Age of onset is typically between 3 and 8 years, with the peak occurring around 6 years.
high incidence of comorbid learning and/or attention disturbance.
involve frontal and subcortical networks involved in regulating attention.
CAE is associated with attention problems that adversely affect encoding and storage of new information, with relatively greater impact on visuospatial and nonverbal memory.
Landau-Kleffner syndrome
progressive encephalopathy (sometimes referred to as acquired epileptic encephalopathy) that particularly affects language.
onset between the ages of three and seven years
Characterized by language and cognitive deficits:
- progressive aphasia begins with development of receptive language impairment and verbal auditory agnosia, followed by gradual development of expressive language deficits.
- progressive cognitive impairments: including regression of overall intellectual ability and deficits in attention
Typically, the course does not typically include spontaneous recovery of language
Lennox-Gastaut syndrome
referred to as “encephalopathic generalized epilepsy syndrome” due to the progressive and severe cognitive impairments/regression that are typically observed.
may present with multiple different seizure types
Risk factor: history of infantile spasms, MCD, neurocutaneous disorders (e.g., tuberous sclerosis [TS] complex), CNS infection (meningitis, encephalitis), and hypoxic-ischemic injury.
Rasmussen syndrome
characterized by a progressive unilateral encephalopathy and medically refractory seizures (drug resistant)
the most commonly reported presentation is in children between 3 and 14 years.
premorbid cognitive and behavior development is normal.
Once seizures begin, a progressive course generally results in loss of cognitive skills related to the side of seizure onset (e.g., language decline in dominant hemisphere; visuospatial decline in nondominant hemisphere). Ultimately, there is nearly complete loss of function in the affected hemisphere, including hemiparesis.
Risk factors for IQ decline
seizure severity and treatment with multiple medications (which may also be a result of seizure severity)
encephalopathic epilepsies
Landau-Kleffner syndrome, Lennox-Gastaut syndrome, and Rasmussen syndrome.
??? deficits are among the commonly cited side effects of anticonvulsant medications.
processing speed
because AEDs reduce hyperexcitability and neuronal transmission by increasing inhibitory action (e.g., GABA-ergic inhibition) or reducing availability and function of excitatory neurotransmitters (e.g., glutamate).
Febrile seizure
seizure brought on by a fever
4–5% of children will have at least one febrile seizure.
do not constitute epilepsy and are not usually treated with AEDs.
but they are a risk factor for later development of unprovoked seizures, particularly within one year and seizures arising from the temporal lobe.
Two most common types of CNS infections
Meningitis - infection/inflammation that is confined to the meninges.
Encephalitis - general term that refers to an infection of the brain tissue/parenchyma (cause is often unknown in 1/3-2/3 of cases)
3 Bacterial Forms of Meningitis
(in order of prevalence)
Pneumococcal meningitis - most common cause of SNHL
Meningococcal meningitis
Haemophilus meningitis
causes/complications of brain damage in bacterial meningitis
inflammation (most common) - which leads to tissue and vascular injury, as well as thrombosis (blood clot)
brain (cerebral) edema and increased intracranial pressure (ICP), which can lead to hypoxic ischemic encephalopathy (HIE)
long-term neurobehavioral sequelae of bacterial meningitis
hearing loss (11%)
intellectual disabilities (4%) spasticity/paresis (4%)
seizure disorders (4%)
50% of childhood survivors tend to have cognitive/behavioral difficulties (e.g., cognitive impairments, academic limitations, ADHD/EF, language difficulties in children contracted <1 year
Most common viruses that cause encephalitis
herpes simplex virus (HSV) - most common children
varicella zoster virus
Epstein-Barr virus
adenoviruses
enteroviruses
arboviruses (e.g., ARthropod- BOrne viruses such as from ticks and mosquitoes)
cytomegalovirus
How is meningitis diagnosed?
Lumbar Puncture/Blood Work
Neurobehavioral sequelae of encephalitis
Average-to-low average IQ
Higher rates of learning disabilities, attention/EF/ processing speed problems, anterograde memory difficulties (forming new memories), behavioral concerns
Autoimmune encephalitis
autoimmune syndrome associated with an attack of antibodies on neuronal receptors that can occur with or without a cancer association.
Neurobehavioral outcomes of children with Perinatally Acquired HIV-Infection
Poor working memory, slowed processing, and executive problems are most consistently reported
impaired visual memory, visuospatial reasoning and language skills also seen.
depression and conduct problems primarily
Two types of brain tumors
Primary Brain Tumors
* Originate in the CNS
* Are more common in children than adults
Metastatic Brain Tumors
* Primary cancer is outside the nervous system and spreads to the brain
* Occur in 20–40% of adults with cancer
* Malignancies that commonly spread to the brain: breast, colon, or lung
Complications of radiation therapy
- Acute radiation encephalopathy (2 weeks after treatment) - can include headaches
- Late (>12 months) complications of radiation (children):
neuropsychological deficits (associated with associated with damage to developing white matter)
hearing loss
cataracts
infertility
Late effects and complications of chemotherapy
Children::
Cerebral white matter damage
Hearing loss
Neuropsychological deficits
Cerebellar disruption
seizures
Acute lymphoblastic leukemia (ALL)
most common malignancy of childhood, and 5-year survival rates are 90% with treatment.
cancer of the blood and bone marrow in which precursors of lymphocytes proliferate and crowd out healthy and functional cells.
It is most commonly diagnosed in the preschool years.
Contemporary treatment protocols include systemic and intrathecal chemotherapy; very high risk patients are treated with cranial radiation therapy.
Brain tumor/treatment neuropsychological outcomes
IQ generally preserved but radiation (higher doses) and chemotherapy at an early age are at risk for decline in IQ
A triad of cognitive processes appears particularly affected—attention, working memory, and information processing speed—because fluid cognitive skills are more vulnerable to disruption.
Visuospatial and visual motor skills are often compromised in childhood cancer survivors.
Verbal abilities generally preserved
Reduced fine motor speed and output are common.
Psychosocial adjustment - Depression and anxiety issues are common
Radiation therapy affects the developing brain by primarily causing…?
compromise of white matter
Radiation induced damage to oligodendrocyte precursor cells is one of the mechanisms of CNS toxicity related to radiation. Damage to oligodendrocytes and precursors leads to demyelination and reduced normal appearing white matter.
Common late effect from chemotherapy
memory problems
Prevalence of tumors in children
Children - 70% are infratentorial (posterior fossa, tend to cause hydrocephalus through compression/obstruction of 4th ventricle) 30% are supratentorial
Most common: astrocytoma, medullablastoma, ependymoma (tumor that can form in spinal cord)
Most benign & deadly types of brain tumor
Benign - Meningioma
Deadly - glioblastoma
secondary toxic processes triggered by hypoxia/ischemia
Sodium and calcium pumps fail -> excessive levels of glutamate (excitatory) -> excitotoxic to neurons
free radicals are also produced
chronic pulmonary disease that may result in neuropathological changes and cognitive impairment.
Obstructive sleep apnea (OSA)
Chronic obstructive Pulmonary Disease (COPD)
Neuropsychological deficits following hypoxic/ischemic injury
memory
attention/processing speed
executive dysfunction (orbitofrontal system dysfunction b/c this is a watershed region)
visuospatial deficits (posterior watershed regions)
overall cognitive decline
hold tests are not typically affected
Pediatric Hypoxic and Ischemic Brain Injury
Visuospatial deficits tend to be less severe in children with hypoxic brain injury, whereas intellectual abilities, attention, memory, and behavioral impairments tend to be more pronounced in that population.
The individual with lasting changes in brain functioning may not derive the same maturational benefits from normal childhood and adolescent developmental experiences.
Risk factors for TBI for children
falls or child abuse
Classification of TBI severity can be accomplished using a combination of various indicators:
Glasgow Coma Scale (GCS) score
Time to follow commands (TFC)
Length of PTA
*however, no universally accepted TBI classification system exists
Recovery after moderate to severe TBI often takes more than
1 year
TBI neuropsychological expectations
“Hold tests” (vocabulary, information) are generally unaffected
Processing speed (most commonly impacted d/t impact on white matter integrity)
Complex attention problems (divided) - children who sustain moderate to severe TBI may develop secondary ADHD.
Possible visual spatial difficulties secondary to EF
Memory, again possible d/t EF - reduced processing speed, learning capacity, and organizational skills, thus leading to faulty encoding, storage, and retrieval.
Depression and anxiety are common following TBI
Glasgow Coma Scale (GCS)
A scale that assesses responsiveness in patients who have sustained brain injury.
There are three parameters: eye opening, motor response, and verbal response.
The scale ranges from 3 to 15, with scores of 8 or less indicating severe injury and scores over 13 associated with mild injuries.
It is common to use the term “complicated mild” with GCS over 13 in the context of positive acute neuroimaging findings.
In severe TBI, lower GCS (3 to 5) is clearly associated with increased mortality rates.
What is the best predictor of TBI prognosis?
PTA
Brain injury during which school years confers the most risk for a poor outcome?
Preschool. Children who sustain traumatic brain injury during infancy and early childhood have worse neuropsychological and functional outcomes than those injured in later childhood or the teenage years.
The most common sites of brain contusion in TBI due to jagged bony prominence abutting brain tissue in the cranial vaults are:
anterior temporal lobes and orbitofrontal regions abut jagged bony prominence
Brain regions most impacted by coup-countercoup injury?
Frontal and temporal lobes
Tourette Syndrome
characterized by repetitive, stereotyped involuntary movements and vocalizations called tics, generally proceeded by a premonitory urge or sensation.
Age of onset is usually between 5 to 7 years, with symptoms peaking around 10–12 years of age
prevalence three to four times higher in males than females.
Tics usually progress from simple to complex and worsen during the teenage years, followed by improvement in adulthood,
Tics are thought to be a disorder of the basal ganglia/cortical brain circuitry, though the exact pathophysiology is unknown.
Motor system components and functions
Motor cortex - commands
Brainstorm and spinal cord - movements
Basal ganglia - force
Cerebellum - accuracy
Apgar score
Taken at 1 and 5 mins (and later intervals if low scores)
Consistently low scores may suggest reduced oxygenation to the brain and resultant hypoxic ischemic encephalopathy
7+ is WNL
How does chemotherapy affect brain functioning?
Chemotherapy targets rapidly dividing cells (cancer) that can affect rapidly dividing cells in hippocampus (associated memory complaints)
Difference between (spina bifida) meningocele and myelomeningocele
Both are spinal malformations in which the meninges protrude through the spinal cord, causing a bulge in the skin.
Meningocele - sac contains CSF only, no nerve or spinal cord
Myelomeningocele - sac contains CSF + Spinal cord (most common form, most common cause of congenital hydrocephalus)
Chiari II malformation
Congenital malformation of the posterior fossa, resulting in downward placement of cerebellum tonsils and vermis (herniated through foramen magnum), tectum (beaking), and myelomeningocele
hydrocephalus develops in about 90% of infants because of the malformation causes obstruction at the fourth ventricle.
Chiari I develops as the skull and brain are growing and may not occur until late childhood or adulthood)
Hypoxic-ischemic encephalopathy (HIE) can lead to what kind of injury?
Periventricular leukomalacia (PVL)
Intraventricular (germinal matrix) hemorrhage (IVH) can lead to what kind of injury?
Periventricular hemorrhagic infarction (PVHI)
What areas are in the temporoparietal junction (TPJ)?
Wernicke’s & angular gyrus
4 causes of congenital hydrocephalus
spina bifida myelomeningocele
aqueductal stenosis - congenital narrowing of Sylvian aqueduct; usually genetic cause (no, not the 4th ventricle)
Dandy Walker syndrome - cystic 4th ventricle w/ agenesis of cerebellum; rare
Intraventricular (germinal matrix) hemorrhage - grade 3 & 4
Posterior fossa/cerebellar mutism syndrome
Complication of cerebellar tumor resection
More common in children after posterior fossa surgery
Symptoms include mutism, emotional lability, cranial nerve deficits, and ataxia.
Mutism and motor deficits resolve over days/weeks, at times months; may require inpatient rehabilitation; some degree of
impairment can persist in motor and speech function.
Neurocognitive outcomes of radiation and/or chemotherapy treatment
Earlier treatment increases risk of decline in IQ (dose dependent)
Fluid skills are vulnerable to disruption
Triad: attention, working memory, processing speed
visuospatial/visuomotor problems
math problems
memory deficits are less common now with treatment compared to older cohorts (particularly cranial radiation d/t damage of hippocampal progenitor cells)
Describe each structure of the ventricle system
lateral ventricles
(foramen of monro)
3rd ventricle
(cerebral aqueduct)
4th ventricle
Most common causes of neonatal seizures
Hypoxic ischemic encephalopathy (HIE) - May be responsible for 80% of seizures in first 2 days of life
Malformations of cortical development (MCD)
Clonidine
nonstimulant (antihypertensive)
High metabolic/oxygen demand areas of brain
hippocampus
Basal ganglia
cerebellum
thalamus
vascular watershed areas (anterior: orbitofrontal, posterior: dorsal visual stream & optic radiations)
What is Parinaud’s syndrome?
Where 3rd ventricle pushes down into midbrain; result in limited vertical gaze, especially in the upward direction
Happens in children with acute hydrocephalus, the ominous “setting sun” sign, consisting of bilateral deviation of the eyes downward and inward, may be seen.
This syndrome often reverses after treatment.
subdural hematoma
caused by rupture of bridging veins between sulci on the upper surface of the brain
common in high speed injuries, most commonly found in frontal and anterior temporal lobes due to skull bony prominence
Borderline intellectual functioning
IQ = 70-85,
adaptive scores do not warrant mild ID
Congenital hemihypertrophy
condition in which one side of the body or a part of one side of the body is larger than the other.
Triple X syndrome (TXS)
occurs only in girls - have an XXX chromosome count rather than the standard XX chromosome count
many people with TXS may not show evidence – quite common to remain undiagnosed if no developmental or medical signs
Triple X syndrome (TXS) neurobehavioral profile
Highly variable
lower in IQ
impairments in motor processing speed/coordination, attention/EF, language
emotional and psychiatric conditions are more common than controls
Triple X syndrome (TXS) neuroimaging finding
larger and asymmetric ventricles
Anomalous dominance
pattern of cerebral organization of function for language and handedness in which the person does not consistently use the same side of the body for major tasks (hand, foot, eye)
suggests a “weak laterality base”
may result from delayed development of the left hemisphere, which creates a more symmetrical brain
Lateral dominance should be developed by 8-9
A strong family history of left handedness tends to predict ambidexterity
Plagiocephaly
when a baby develops a flat spot on one side of the head or the whole back of the head.
It happens when a baby sleeps in the same position most of the time or because of problems/tightness with the neck muscles (muscular torticollis) that keeps the baby’s head in the same position.
The skull bones of premature babies are softer.
tonic seizure
causes a sudden stiffness or tension in the muscles of the arms, legs or trunk.
The stiffness lasts about 20 seconds
After the seizure, the person may feel tired or confused.
Clonic seizure
consists of rhythmic jerking movements of the arms and legs, sometimes on both sides of the body
RCFT left parietal damage
maintained overall design gestalt (the general features or shape is maintained) but approach is simplistic and piecemeal approach to the task which results in poor integration of sections and lack of detail (simplistic designs)
RCFT right parietal damage
deficits in maintaining the gestalt of figure (details without coherent organization) (inability to synthesize and integrate elements of drawing suggesting perceptual deficits)
Poor visual perception (like 16 year old patient) may suggest what condition and what area of brain implicated?
developmental apperceptive (visual) agnosia
Apperceptive agnosia – inability to distinguish visual shapes, including recognizing or discriminating between different stimuli) – damage: posterior sections of the right hemisphere (where)
Describe prevalence of handedness
Established by age 9
general population (90% right, left 10%), left hemisphere language dominance (96% R, 70% L: 15% R language dominance, 15% bilateral language dominance)
Discuss how in-utero exposure may impact response to psychotropic medication
the presence of drugs of abuse during the prenatal period may disrupt neurotransmitter systems (e.g., dopamine/catecholamine systems) relevant to mechanisms of action of psychopharmacological treatments
may help explain why in-utero drug-exposed children may be poor responders to psychotropic meds to manage attention and impulsive/ aggressive behaviors.
10 Enforceable APA Standards
Resolving ethical issues/conflicts
Competence
Human relations (avoiding harm, multiple relationships, conflict of interest, informed consent)
Privacy and Confidentiality
Advertising and public statements
Record keeping and fees
Education and training
Research and publication
Assessment
Therapy
Methotrexate
antineoplastic (cancer medicine; chemotherapy) - interferes with the growth of cancer cells, which are eventually destroyed by the body.
Medical Conditions
- neural tube defect (spina bifida, Chiari II)
- congenital hydrocephalus
- in-utero exposure
- preterm/low birth weight
- cerebral palsy
- CNS infection (encephalitis, meningitis)
- stroke (hypoxic/ischemic, hemorrhagic)
- TBI
- cancer (leukemia/acute lymphoblastic leukemia; ALL, tumor - medullablastoma, glioma) + treatment
- epilepsy
- congenital heart disease
Compromised areas of congenital heart disease
attention/EF, visuospatial/visuomotor, social cognition = due to dysmaturity of brain and white matter tracts
A side effect of intrathecal (injection in spinal cord) chemotherapy with methotrexate is:
leukoencephalopathy (cerebral white matter damage)
Types of gliomas
- Astrocytoma – glial tumors arising from astrocytes
- Meningioma – glial tumors arising from arachnoid villus cells (most benign)
- Pituitary adenomas – cause endocrine disturbances or compress optic chiasm resulting in visual field defects
- Schwannomas – most common on 8th cranial nerve
- Lymphoma – cancer of lymphatic (immune) system
- Pineal region tumors – relatively uncommon; tumors may obstruct cerebral aqueduct causing hydrocephalus or compress dorsal midbrain causing Parinaud’s syndrome
- Glioblastoma - most deadly
Most common brain tumor in childhood
Medulloblastoma - originates in cerebellum/posterior fossa
nearly 1/4 of survivors who underwent surgery experience posterior fossa syndrome
Age of peak incident of acute lymphoblastic leukemia (ALL) diagnosis
2-4 years old
What is acute lymphoblastic leukemia (ALL)?
cancer of bone marrow and blood/white blood cells
ALL starts in stem cells within bone marrow
acute - rapidly progressing
What is lymphoma?
cancer of lymphatic system (immune system)
Common types of childhood leukemia (cancers of blood and bone marrow)
Acute lymphoblastic leukemia (ALL)
Acute myeloid leukemia (AML)
Age of peak incident of acute myeloid leukemia (AML) diagnosis
5-9 years
Highest risk factor of childhood CNS tumors
Ionization radiation (such as those with acute lymphoblastic leukemia; ALL)
associated with 6-10x increase of glioma and meningioma
What is a glioma?
Tumors with glial cells of origin
Onset of medulloblastoma
5-9
Common childhood epilepsies & age of onset
*Childhood absence epilepsy (CAE) (3-8)
- self-limiting but ~15% develop myoclonic seizures
*Encephalopathic epilepsies:
- Landau-Kleffner syndrome (3-7) - language dominant regressive, then global impairment
- Lennox-Gastau syndrome (3-5) - bilateral
- Rasmussen syndrome (3-14) - unilateral
- Juvenile myoclonic epilepsy (10-20; puberty)
- Seizure activity begins soon after waking or triggered by fatigue or stress
*Temporal lobe epilepsy (TLE) (10-20 years)
- ~1/3 intractible
- 50% generalize to tonic-clonic seizures
Associative vs assembled processing
Associative Processing - Information retrieved from semantic memory that has been associatively linked or learned
Assembled Processing - Information that must be constructed or integrated
Common childhood epilepsies & age of incidence
Childhood absence epilepsy (CAE) - 3-8
Temporal lobe epilepsy (TLE) - 10-20
Juvenile myoclonic epilepsy (JME) - 12-18
Encephalopathic epileptic syndrome:
- Landau Klefner - 3-7
- Lennox Gastau - 3-5
- Rasmussen - 3-14
Juvenile myoclonic epilepsy
Incidence: 12-18…around puberty)
Seizure activity begins soon after waking or triggered by fatigue or stress
Increased risk for GTCs and absence seizures
Profile:
* Leftward shift in IQ
* Processing speed
* Visual memory impaired more than verbal
* Verbal fluency and inhibition
Temporal lobe epilepsy
Incidence: 10-20
Focal epilepsy
- 80% affecting mesial temporal lobe (hippocampi)
- 20% affecting lateral temporal lobe
- Often associated with hippocampus sclerosis (hardening or scaring)
- 50% lead to secondary generalization to tonic clonic seizures
Examples of congenital heart disease
Tatrology of Fallot
Hypoplastic left heart syndrome
Patent ductus arteriosus (PDA)
Sex linked disorders
Klinefelter – XXY (extra X)
Turner – XX (missing or abnormal X)
Fragile X
Triple X syndrome
Adrenoleukodystrophy (ADL)
Adrenoleukodystrophy (ADL)
- Genetic condition resulting in accumulation of very-long chain fatty acids in tissues and plasma
- Neurodegenerative due to inflammation and demyelinating (resulting in white matter lesions)
- Onset: 3-12 years
- More severe in males
Signs of brain tumors in infants and toddlers
- Persistent, recurrent vomiting or headaches
- Balance, coordination, or walking problems
- Abnormal eye movement or suspected loss of vision
- Seizures (unprovoked, without fever)
- Behavior change (lethargy, inactivity)
- Abnormal head position (stiff neck, head tilt)
- Increasing head circumference
Conditions associated with scoliosis
NF1
CP
Adrenoleukodystrophy (ALD) cognitive deficits
EF
Nonverbal
Describe:
Generalized idiopathic epilepsies
Focal idiopathic epilepsies
Encephalopathic epilepsies
Generalized idiopathic epilepsies:
- Childhood absence epilepsy (CAE) (3-8), self-limiting but ~15% develop myoclonic seizures
- Juvenile absence epilepsy (12+/puberty) - poorer prognosis than CAE, tends to persist in adulthood
- Juvenile myoclonic epilepsy (10-20; puberty) - upper extremity, seizure activity begins soon after waking or triggered by fatigue or stress, infrequently resolves
Focal idiopathic epilepsies:
- Benign rolandic epilepsy (1-14) - nocturnal, twitching of face/tongue and upper extremity, “benign” = outgrow
- Occipital lobe epilepsy (3-15) visual sx: stars, illusions, hallucinations
- Temporal lobe epilepsy (TLE) (10-20 years), ~1/3 intractable, 50% generalize to tonic-clonic seizures, sx: epigastric rising sensation, olfactory, emotional
Encephalopathic epilepsies:
- Dravet syndrome (~1) - prolonged seizures (e.g., status epilepticus), DD and hyperactivity usually seen
- Landau-Kleffner syndrome (3-7) - language dominant regressive, then global impairment
- Lennox-Gastau syndrome (3-5) - bilateral
- Rasmussen syndrome (3-14) - unilateral
