Neurology/Neonatal Flashcards
1
Q
Pharmacodynamics
A
Action or effect medication has on the body (inhibiting a receptor, blocking a receptor, stabilizing a receptor, causing a direct chemical reaction)
2
Q
Pharmacogenomics
A
Genetic variations underlie different treatment responses
3
Q
Pharmacokinetics
A
Study of the effects of the body on the drug (absorbing, distributing, metabolizing, excreting)
4
Q
Pharmacovigilance
A
Systems of pharmaceutical companies and health care systems evaluating the safety of medications by detecting, assessing, understanding, and preventing adverse reactions
5
Q
Neurogenesis/Apoptosis
A
Occurs mostly prenatally with almost all neurons present at birth. Brain tissue is subsequently shaped with apoptosis
6
Q
Synaptogenesis
A
Increased connectivity between neurons starting at 27 weeks and intensifying over first 2 years of life with specific maturation patterns in different parts of the brain (auditory cortex 3 mo, PFC 18 mo)
7
Q
Synaptic pruning
A
Developmental process in which elements of the structural synapse (presynaptic terminals and post synaptic membrane) are eliminated. Peaks in early childhood (age 0-4) and again in adolescence.
Impact of early enrichment on the brain explained by this
8
Q
Myelination
A
Increased speed of neuronal connection. Prolonged process that extends to young adulthood
9
Q
Neural patterning
A
Biological process in which cells in the developing brain acquire distinct identities and spatial positions. Occurs in fetal development
10
Q
Neuroplasticity
A
Brain’s inherent dynamic capacity that includes maturation and the brains ability to change structurally in response to enrichment and injury
Window of greatest plasticity (infancy, toddlerhood) is when enrichment will have largest impact on language development
Can occur at level of synapse or cell
-synaptic: strength of synapses between neurons, lifelong
-cellular: number of synapses. Wanes after early childhood
11
Q
GMFCS level 1
A
Can walk indoors and outdoors and climb stairs without using hands for support
Can run and jump
Decreased speed, balance, coordination
12
Q
GMFCS level 2
A
Can walk indoors and outdoors and climb stairs with railing
Difficulty with uneven surfaces, inclines, or in crowds
Minimal ability to run and jump
13
Q
GMFCS level 3
A
Walk with AMD indoors and outdoors on level surface
May be able to climb stairs with railing
May propel manual wheelchair (assistance for long distance, uneven surfaces)
14
Q
GMFCS level 4
A
Walking severely limited even with assistive devices
Uses wheelchair most of the time and may propel power wheelchair
May participate in sliding transfers
15
Q
GMFCS level 5
A
Physical impairment restricts voluntary control of movements and ability to maintain head and trunk position
Impaired in all areas of motor function
Cannot sit or stand independently. Cannot independently walk though may be able to use powered device
16
Q
Cerebral Palsy
A
Group of permanent disorders of the development of movement and posture causing activity limitation that are attributed to non progressive disturbances that occurred in the developing fetal or infant brain.
Clinical manifestations can change with growth or development.
Motor disturbances often accompanied by disturbances of: sensation, perception, cognition, communication, behavior AND by: epilepsy, secondary MSK problems
17
Q
CP classifications
A
Spastic: diplegia, hemiplegia, quadriplegia
Dyskinetic: hyperkinetic/choreoathetoid, dystonic, ataxic, mixed
Hypotonic
18
Q
Most common type of CP
A
Spastic diplegia
19
Q
Most common type of CP caused by PVL
A
Spastic diplegia
20
Q
Type of CP most associated with stroke
A
Spastic hemiplegia
21
Q
Upper motor neurons
A
From brain to spinal cord
Put on the “breaks”
UMN Lesion: increased tone, hyperreflexia
22
Q
Lower motor neuron
A
From spinal cord to muscle
“Go go go”
LMN lesion: atrophy, hypotonia
23
Q
Tone
A
Muscle’s resistance to passive movement
24
Q
Spasticity
A
Abnormal muscle tightness due to prolonged muscle contraction.
Associated with hyperreflexia and hypertonia
More resistance in one direction than in the other
Velocity dependent: More noticeable with fast movement
Caused by lesions in the pyramidal tract (UMN)
25
Rigidity
Muscle resistance throughout range of motion in both directions. Affects all muscles surrounding a joint equally
Not velocity dependent (does not vary with speed of movements)
Associated with basal ganglia injury
26
Dystonia
Sustained or intermittent muscle contraction that causes twisting or repetitive movements or abnormal posturing
27
Weakness
Lack of voluntary force
Can occur with stiffness/spasticity
28
Most common brain injury in premature babies
Periventricular leukomalacia
29
Baclofen
Rx for CP
Enhances inhibition of motor neuron activation
UMN role: govern muscle tone through inhibition. Lesion in UMN leads to hypertonia, hyperreflexia, and spasticity. Baclofen enhances the UMN inhibitory role and thus decreases/prevents hypertonia, hyperreflexia, and spasticity.
30
Botox
Rx for CP
Blocks Ach release (transmission from LMN to muscle)
31
Most common procedure for CP
Muscle/tendon release
Selective dorsal rhizotomy (interrupts reflex arc) not done as much
32
Prematurity and GA for the different categories
Birth before 37 weeks
Late preterm is 32-37 (moderate 32-34, late 34-36)
Very preterm is 28-32
Extremely preterm is <28
Lower limit of viability is 22-23
33
Strongest risk factor for prematurity
Previous preterm birth
34
Birthweight classifications
Low birth weight is < 2500
Extremely low birth weight is <1000
SGA is <10%ile
35
Periventricular leukomalacia
Ischemic injury within periventricular white matter
36
What causes Intraventricular hemorrhage? What brain matter is affected?
Impaired auto regulation of cerebral blood flow and fragile capillaries
Lower volume of gray and white matter
Grade 1 to 4
37
Bronchopulmonary dysplasia
Lung injury and abnormal lung development seen with prematurity
Increased risk for cognitive impairment
38
Surrogate marker for respiratory disease severity that correlates with neurodevelopmental outcomes
Duration of ventilator dependence
39
Most common vision impairment associated with prematurity
Myopia
40
What is Retinopathy of prematurity?
Abnormal retinal blood vessel development in preterm infants that leads to increased risk of visual impairment and blindness
-child born before retina completely vascularized
-fibrovasculad proliferation between vascularized and avascularized portion of the retina leads to retinal detachment and blindness
(NOT associated with: visual planning, processing and VMI or cognitive outcomes)
41
Complications of CP: contractures
Where do they occur and how are they managed?
Particularly in muscles that cross two joints
Avoidance: stretch, strengthen, position
Mild: serial casting often with Botox
Fixed contractures may require surgical correction
42
Complications of CP: spastic hip dysplasia
-what causes it
-symptoms
-who has the highest risk
-how is it screened for
Progressive femoral head subluxation and dislocation
Associated with pain, decreased function, difficulty with positioning, and reduced quality of life
Risk is low in GMFCS 1 and 68-90% in GMFCS 4
AP pelvis radiographs at 2 years followed by intervals related to risk (age, GMFCS, rate of progression)
43
Gray and white matter
Outer cortex of neuronal gray matter folded to form sulci and gyri and inner white matter of connecting fibers transmitting information
44
Cerebral hemispheres control motion of the ____ side of the body and communicate through ____
Contralateral
Corpus callosum
45
Frontal lobe
Voluntary movements, language, cognitive, and executive function
46
Primary speech area of the brain
Broca’s area in left frontal lobe
Damage: difficulty speaking fluently and forming grammatically correct sentences
47
Parietal lobe
Sensory receptive area
Transmits spatial information to the motor cortex
48
Temporal lobe
Memory, language comprehension, emotional processing, auditory function
49
Area of the brain for understanding and processing speech and language
Wernicke’s area in the temporal lobe just behind ears
50
Occipital lobe
Visual functions, object and face recognition, visuospatial processing, depth perception, color determination
51
Thalamus
Relay station for sensory and motor signals. Regulate consciousness
52
Hypothalamus
Controls autonomic nervous system and works in conjunction with pituitary to mediate endocrine function
53
Basal ganglia
Initiate and integrate movements
54
Cerebellum
Coordination and motor planning
Control ipsilateral limbs
55
3 indications to image with seizure
1) focal seizure
2) abnormal neuro exam
3) altered mental status
Yield is low, 2-4% for first time seizure. Higher yield in infants <6 mo
56
Standard first step in evaluation for unprovoked seizure in child of any age
EEG
Aim to capture wake and asleep
57
Definition of epilepsy
1) 2 unprovoked seizures at least 24 hrs apart
2) a single unprovoked seizure with recurrence risk > 60% = structural abnormality, EEG abnormality (focal epileptiform discharges, focal slowing), remote symptomatic etiology
3) epilepsy syndrome
***febrile seizures don’t count
58
Childhood absence epilepsy and Juvenile absence epilepsy
-peak age of onset for each and outcome
-seizure type
-tx
-associated neurodevelopmental considerations
Childhood onset peak 5-7 years
Juvenile onset peak 9-13 years
Childhood onset typically self limiting but can progress to juvenile (rare remission)
EEG: bilaterally synchronous and symmetrical 3 Hz spike and wave
Absence seizures: frequent (multiple per day), brief (10 sec), provoked by hyperventilation. Can include automatism (eyelid flutter)
Can have GTCs typically in adolescence
Rx: ethosux for absence only. Also: valproate and lamotrigine
Assoc with neurocognitive deficits (ADHD, learning)
59
Juvenile myoclonic epilepsy
-peak age of onset and progression
-seizure types
-tx
-neurodevelopmental concerns
Onset peak 10-18 years
Remission rare
Myoclonic seizures (brief sudden involuntary contraction of a muscle group), often early morning
GTCs
Absence can be seen
Rx: valproate, keppra, topiramate
Developmental cognition typically normal
60
Self limited childhood epilepsy with centrotemporal spikes
-onset
-seizure type
-tx
-neurodevelopmental considerations
Onset 3-14 years with peak 5-9 years. Resolve by 12-18 years
Brief (<5 min) focal motor hemifacial clonic seizures (speech arrest, hypersalivation, swallowing/chewing movements). May progress to GTC
Rx: meds not always if seizures are rare. Oxcarb, carbamazepine, keppra, valproate
May have behavioral and neuropsychiatric deficits especially during periods of active epilepsy
61
West Syndrome
-age of onset
-seizure type
-EEG
-tx
-neurodevelopmental considerations
Triad=infantile spasms, hypsarrhythmia, and developmental delay
Onset 3-24 months
Epileptic spasms (clusters of sudden flexion of the neck, trunk, and extremities but may also appear as muscle extensions or mixture. Subtle spasms may appear as head bobs or facial grimaces)
EEG: hypsarrhythmia (random asynchronous high voltage intraictal pattern)
Rx ACTH, vigabatrin, oral steroids
Assoc with developmental delay or regression. Can be associated with structural brain abnormalities, genetic or metabolic etiologies, can be associated with TSC. May progress to LGS
62
Lennox Gastaut Syndrome
-age of onset
-seizure types
-tx
-neurodevelopmental considerations
Onset 1-7 years, peak 3-5 years
Multiple types: tonic seizures (often from sleep), atonic seizures, atypical absence, GTCs, myoclonic, focal, epileptic spasms
Rx: valproate, lamotrigine, rufinamide, topamax, clobazam, felbamate, CBD, ketogenic diet, VNS, corpus callostomy, respective surgery
Can have developmental delays preceding epilepsy onset in addition to stagnation and regression after epilepsy onset
63
Landau Kleffner Syndrome
-age of onset
-seizure type
-tx
-neurodevelopmental considerations
Onset 3-8 years (peak 5-7)
May or may not have clinical seizures
Rx: Benzos, AEDs (valproate, keppra), oral steroids, epilepsy surgery
Development of progressive aphasia with previously normal language development
64
Polymicrogyria
Brain malformation that causes excessive folding of the brains surface, resulting in abnormally thick cortex
Variable clinical findings: learning problems to ID, motor deficits (uni or bilateral or tone), epilepsy is common
65
Neuronal heterotopia
Abnormal neuronal migration with failure to reach destination in the cortex
66
Focal cortical dysplasia
Areas of abnormal brain anatomy with neuronal dyslamination and abnormal cell types. May be asymptomatic or result in focal epilepsy
67
Dandy Walker Malformation
Hypoplasia and anti clockwise rotation of the cerebellar vermis with cystic dilation of the 4th ventricle
Hydrocephalus is common and often the presenting feature
More than half of cases have other brain abnormalities and many have other abnormalities (heart, kidneys, syndactyly)
68
Chiari Malformation
Chiari I: downward displacement of cerebellum and tonsils. Can be associated with syringomyelia (central spinal cord dilation). Most common feature occipital headache and cervical pain, usually adolescence or adult
Chiari II: combination of abnormalities including small posterior fossa and low lying 4th ventricle, aqueductal stenosis, and low lying cerebellum and vermis, always associate with meningomyelocele
69
Peripheral arterial ischemic stroke
Embolic or thrombotic event 20 weeks to 28 days
Most common presentation is focal seizures in first week of life, can also present with encephalopathy or focal neurological deficits
70
Neonatal hemorrhagic stroke
Hemorrhage within brain parenchyma
Seizures common at presentation more likely to be encephalopathy
71
Neuromuscular disorder with
-distal weakness: ___
-proximal weakness: __
-tremor: ___
-fasciculations: ___
Distal weakness = neuropathy
Proximal weakness = myopathy
Tremor = neuropathy
Fasciculations = motor neuron disorder
72
First lab test in evaluation of neuromuscular disorder
CK
If elevated think muscular dystrophies
If normal think: neuropathies, SMA, congenital myopathies/myasthenic syndromes
73
SMA (spinal muscular atrophy) and gene associated
Progressive degeneration of anterior horn cells in the spinal cord, resulting in weakness
See fasciculations
Mutation in SMN1 gene
74
SMA types
Type 1: most common. Symptoms before 6 mo and never sit independently, die in first 2 years
Type 2: can sit but never stand or walk, presents from 6-18 months.
Type 3: walk but may stop being able to. Present after 12 months and can live to adulthood
Type 4: present in adulthood, normal lifespan
75
Charcot Marie Tooth
-Presentation, features
-gene association
-how to dx
Inherited sensorimotor neuropathy. Presents with slowly progressive sensory and motor impairments. Distal to proximal
Toe walking may be first presentation with progression to high steppage gait
Foot deformities are common
Difficulty with balance and uneven surface and walking in the dark
60% with CMTA1 due to duplication in PMP22
Dx EMG/NCS
76
Congenital myasthenic syndromes
Group of disorders caused by mutations in genes that regulate or form the neuromuscular junction (impaired nerve signal transmission)
Can have autoimmune etiology
Baseline weakness esp of face and limbs and episodes of increased fatiguable weakness
Fluctuating weakness, worse with activity
77
Duchenne muscular dystrophy and Becker muscular dystrophy
-difference between the two, pathophysiogy, protein/gene involved
-presentation
-neurodevelopmental considerations
-tx
X linked Mutation in DMD1 gene causing functional absence of dystrophin in DMD and relative deficiency of dystrophin in BMD
Deficiency or absence of dystrophin causes force contraction injury of muscle fibers
Normal in first year, start walking. Presents age 2-3 with delayed gross motor or toe walking, neck flexion weakness, gower sign (age 3-5), pseudohypertrophy of calves
May have ID, speech delay (dystrophin in brain)
Without treatment wheelchair bound by 13 and vent assistance by 20. Corticosteroids are standard of care in treatment
78
Myotonic dystrophy
-presentation
-genetics
-diagnosis
Can present in pediatric though typically thought of as adult onset
Distal weakness in hands, foot drop, fatigue. Myotonia elicited by handshake (delayed release)
CTG repeat expansion in DMPK gene (100 to 1000) leading to accumulation of toxic mRNA
Dx: EDX (electrodiagnostic)
79
Initial imaging modality of choice in severe brain injury
CT
80
Concussion: symptoms and cognitive outcomes
Cognitive: Large effects in first hours to days. Resolve rapidly and rarely persist more than 1 month
Symptoms: headache, dizziness, fatigue, inattention, forgetfulness. Worst in first hours to days and resolved in days to weeks
As severity worsens, persistent symptoms more common and associated with premorbid issues
81
Concussion: timing and return
Remove from sports immediately if concussion suspected and need to be evaluated
Brief period of missed school (1-3 days)
Back to usual activities within first weeks (things they are unlikely to get repeat concussion) even if remain symptomatic.
Return to sports: free of concussion related problems, graduated return remaining free of new symptoms
For those with persistent symptoms, rehab approach better than rest.
Neuropsych assessment can be used to evaluate cognitive and psychosocial status after TBI
82
Anoxic brain injury: Ischemic vs hypoxemic
Transient restriction of oxygen to the brain caused by any number of events that affect cardiopulmonary function
Ischemic: reduction in cerebral blood flow
Hypoxemic: decrease in blood oxygen saturation
Ischemic is more severe
83
Anoxic brain injury: predictors of poor outcomes
Best predictor: duration of unconciousness
GCS
Need for extended CPR
Early seizures
Near drowning with poorest outcomes though varies depending on water temp
84
Holoprosencephaly (and most common genetic cause
Incomplete division of the forebrain, no separation of hemispheres, fused thalami, single large ventricular cavity
Assoc with severe facial and ocular abnormalities, heart disease, polydactyly
Trisomy 13 is most common genetic cause
Maternal diabetes is risk factor
85
Septic optic dysplasia triad
1) agenesis of septum pellucidum and/or corpus callosum
2) hypoplasia of the HPA axis (neuroendocrine disturbance)
3) optic nerve hypoplasia (a top cause of congenital vision loss in developed countries)
86
Lissencephaly
Smooth brain
Failure of neuronal migration
Imaging: thickened cortex, paucity of sulci, enlarged lateral ventricles, sub cortical band heterotropia
Associated with hypotonia, developmental delay, infantile spasms, LGS
87
Moya Moya disease
-arteries and imaging findings
-presenting symptoms
-risk factors
Progressive stenoocclusive disease that occurs in distal internal carotid arteries and can include proximal anterior and middle cerebral arteries
Presenting symptoms: headache, seizure, brain bleeding, involuntary movements, difficulty learning and developing, vision problems, weakness/numbness/paralysis, trouble speaking and understanding others
“stuttering” pattern on imaging (on angiogram blood vessels narrow and then rapidly widen in a pulsatile matter creating a hazy, smoke like appearance)
Risk factors: NF1, DS, SCD
88
Cerebral sinovenous thrombosis
Blood clot forms in vein in brain can block blood flow from brain to heart leading to build up of pressure in brain blood vessels which can lead to brain swelling, bleeding or stroke
Presenting: headache with features of increased ICP (positional headache, early morning emesis, diplopia), stroke like symptoms
Rx anticoagulation
89
Vascular malformations: AVM vs CCM
Arteriovenous malformation (AVM) is a collection of twisted blood vessels with direct A to V connection and intervening brain parenchyma
Cerebral cavernous malformation (CCM) is a collection of dilated capillaries without intervening brain parenchyma
Both present with headache, focal seizure, hemorrhagic stroke
CCM more likely to be familial
90
Spina bifida
-definition
-symptoms
Neural tube defect where the spinal cord does not fully close during fetal development leading to a gap in the spine
Range from spinal bifida occulta (mild) to myelomeningocele (most severe)
Symptoms: leg weakness, loss of sensation, deformities of hips, knees, and feet, low muscle tone, bowel incontinence
91
3 types of Spina bifida
1) occulta: mildest form, no visible opening
2) meningocele: sac of fluid protruding from spine usually without neurological impairment
3) myelomeningocele: most severe form where the spinal cord tissue protrudes from the opening causing neurological deficits
92
Hydrocephalus
Condition in which excess CSF accumulates in the brain ventricles causing increased pressure on brain tissue
Can be congenital (prenatal infection, genetics, Spina bifida) or acquired. Often associated with myelomeningocele
93
Spina bifida and folic acid supplements
Everyone: 400
If prior child with SB, hx of SB: 4000
94
Treatment for Spina bifida
Closure of spinal defect shortly after birth
PT
Orthotics and assistive devices
95
Treatment for hydrocephalus
VP shunt: tube that drains excess CSF from brain to abdomen
ETV: endoscopic third ventroculostomy. Minimally invasive procedure to create opening in brain to allow CSF to flow freely
96
Most common pediatric brain tumor
Gliomas are most common
Astrocytoma, which is the most common glioma
Can develop in cerebrum or cerebellum
Ages 5-8 years
Most are slow growing
97
A child comes in with these symptoms: vision changes, balance and cranial nerve deficits, sudden behavior change, nausea, lethargy, headache worse in the morning
What do you suspect?
Brain tumor
Supratentorial: seizures
Infratentorial: balance and cranial nerve deficits
Sudden change in behavior or unusual presentation of otherwise common behavioral disorders
98
Tic disorder < 1 year since onset
Provisional tic disorder
99
Tic disorder > 1 year since onset with motor and vocal
Tourette
100
Tic disorder > 1 year motor only
Persistent (chronic) motor tic disorder
101
Tic disorder > 1 year vocal only
Persistent (chronic) vocal tic disorder
102
Examples of simple motor tics vs complex
Simple: sudden, brief, isolated to muscle group. Eg blinking, eye movements, nose twitching, lip movements, grimacing, neck jerk, extremity clench
Complex: slower and longer, more purposeful in appearance, several muscle groups. Eg head shaking, trunk flexion, stepping/stomping, scratching, dystonic posturing
103
Examples of simple vocal tics vs complex
Simple: meaningless. Eg Grunting, sniffing, throat clearing, coughing, tongue clicking
Complex: meaningful, linguistic elements. Eg syllables, words, phrases, alterations in rhythm and pitch
104
Features of tics
-onset and progression
-associated neurodevelopmental conditions
1) emerge in first decade. Onset 5-7 years, tendency to increase in severity 10-12 years, improve in adolescence
2) wax and wane, highly state dependent
3) may have premonitory urge
4) common association is ADHD (also anxiety, OCD, ASD)
105
Management of tics
Psychoeducation
CBIT: comprehensive behavioral intervention for tics, stems from habit reversal therapy
Medication: no medication eradicates tics, FDA approved are antipsychotics (haldol, pimozide, abilify)
Antipsychotics only if failed other treatments. Choose risperidone or aripiprazole (haldol and pimozide have bad side effects)
Expert opinion are alpha agonists, may be helpful with co existing ADHD
106
Stereotypic movement disorders
-characteristics of the movements
-genetic disorders associated
Rhythmic and repetitive purposeless behaviors emerging in early childhood
May be a primary condition or associated with neurodevelopmental (ASD) or genetic condition (lesch nyhan, smith magenis, Cornelia de lang)
Examples: flapping, wrist rotations, rocking, nodding, tongue chewing, lip sucking, wiggling of fingers and toes
107
Differential: tics and stereotypical movements
1) age
2) pattern
Tics age 5-7, stereotypies < 3
Tics variable, wax and wane. Stereotypies fixed and predictable
108
Developmental Coordination Disorder (aka developmental dyspraxia)
Acquisition and execution of motor skills is impaired relative to same age peers. Interferes with functioning
Co occur: speech and language impairment, ADHD, EF issues, anxiety, LDs)
Limited benefit for eval < 5 years (younger children may have developmental delay and catch up)
Management: task and activity oriented, meaningful to the child
109
Chorea
Non rhythmic, non repetitive, irregular, continuous dance like movement
Most common cause in kids: rheumatic fever
110
Retinopathy of prematurity: screening and outcomes
Most resolve without major sequelae, screening guidelines in place (<30 weeks, <1500g)
Prognosis depends on severity of disease and how early it’s treated
Treated with laser therapy, surgery in more severe cases
111
Panayiotopoulos syndrome
-age of onset, prognosis
-features
-EEG
-treatment
-neurodevelopmental considerations
Benign childhood seizure disorder
Onset age 3-10 and most children stop having seizures 2-3 years after the first one
EEG multi focal spike or sharp wave in occipital lobe
Features: autonomic seizures and symptoms (vomiting especially during sleep, eye deviation, pale or flushed, and sweating)
Treatment: anti epileptics if more frequent seizures
Generally normal cognitive development
112
Congenital myopathy vs muscular dystrophy
Muscular dystrophy is progressive muscle breakdown caused by genetic mutations affecting the structure of muscle fibers
Congenital myopathy’s is muscle weakness that is present from birth and not significantly progressing. Genetic mutation affect muscle fiber function but does not cause major breakdown
113
Chorea vs stereotypic movements
Chorea is random, irregular, non predictable
Stereotypic movements are rhythmic, repetitive, and predictable
114
Historical features that distinguish epileptic vs non epileptic staring spells
Shorter duration (<10 sec) and less frequent more concerning for seizure
Nonepileptic often happen when child is bored
Nonepileptic respond to verbal or tactile stimulation
Epileptic more likely to have automatisms (eyelid flutter, lip smacking, hand movements)
Epileptic may or may not have postictal state, nonepileptic never does
115
Infantile spasms
-etiology
-evaluation
-course/prognosis
Etiology: brain malformation, HIE, acquired brain injury, infection, metabolic, immunologic, genetic (DS, TSC) Genetic etiology in 14% of cases
West syndrome is a sub type of infantile spasms
Evaluation: brain MRI, microarray, epilepsy gene panel, metabolic studies.
Affects children younger than two years. spasms appear before 12 months in up to 90% of cases and onset peaks at 3 to 7 months. Usually resolved at 3 to 4 years. Up to 60% will develop other types of seizures in their lifetime. 17 to 25% have Lennox gastaut
Relative to spasms with known causes idiopathic spasms have a better response to treatment and more favorable outcomes, including cognition and seizure status. Patient with idiopathic spasms also tend to have normal development before onset of the spasms and no abnormalities on EEG.
116
When to get MRI for evaluation of CP in premature infant with IVH
MRI at term equivalent age (most precise tool).
Next best timing if not done is after 24 months when myelination of motor system complete
117
Fasciculations
Involuntary brief contractions of small muscle fibbers that can cause visible or palpable twitches or ripples under the skin
118
Peripheral cause of hypotonia suspected if there is:
Weakness
Decreased DTRs
119
Infants of diabetic mothers: weight and size concerns
In mothers with severe and uncontrolled pre gestational DM, IUGR of fetus
In well controlled pre gestational DM and gestational DM, increased risk of macrosomia. Most commonly consequence of maternal hyperglycemia
120
Infants of diabetic mothers: neurodevelopmental outcomes
Any type of diabetes and pregnancy increases risk for poor outcomes, including congenital, malformation, preterm birth, macrosomia, stillborn
Some studies show poor cognitive and language development. Literature varies factors to consider or if it is gestational or pre-gestational, how good control of glucoses, maternal pre-pregnancy, BMI, SES, maternal age, alcohol or smoking.
121
Developmental outcomes in spina bifida depend on…
Type of lesion (meningocele, myelomeningocele)
Location of lesion (thoracic, thoracolumbar, lumbar, lumbosacral, sacral); higher level increases risk
Co occurrence of CNS abnormalities (Chiari, hydrocephalus, agenesis/dysgenesis of corpus callosum, cranial nerve dysgenesis, cerebral malformations)
122
Cognitive profile and spina bifida
Most have average intellectual abilities
Uneven cognitive skills, learning disorders and EF deficits are reported
Often relative strength in verbal compared to nonverbal
123
Who is screened for retinopathy of prematurity?
Under 1500g
GA 30 weeks or less
124
DDx Tourette syndrome vs functional tics
-onset and presentation
-pattern of development
-gender distribution
-family history
-premonitory urge?
-suppress?
-pattern over time
Tourette: onset in early childhood, presents initially as simple tics and become more complex. Begin causally with possible involvement of other parts of body over time. More common in males, family history is common. Premonitory sensation and can temporarily suppress. Symptoms wax and wane over time
Functional: onset in adolescence, young adult. Sudden onset, complex vocal and motor, no clear pattern and can resemble tics others experienced. More common in females, family history atypical. No premonitory sensation, cannot suppress. No clear wax and wane of symptoms
125
Most significant risk factor for cognitive dysfunction in children who received treatment for brain tumor
Cranial irradiation
126
Cannabidiol for seizures
Has FDA approval for treatment of seizures associated with Lennox gastaut and TS
127
Most significant neurodevelopmental finding in SGA
Borderline cognitive scores
Preterm birth interacts with causes of growth restriction on development and can confound study of SGA outcomes
128
Most likely deficit to occur in children with perinatal stroke
Sensorimotor
Cognitive and language outcomes less impact in perinatal than later strokes because of plasticity and other brain regions taking over preserving function
129
Infant presents with hypotonia, absent deep tendon reflexes, laying down with legs in frog leg position, barrel shaped chest, swallowing difficulties. What is the condition and what diagnostic test?
Spinal muscular atrophy (SMA)
Test with targeted generic molecular testing
130
In well controlled, pre-gestational, diabetes, and gestational diabetes there is increased risk for ___
In mothers with severe and uncontrolled pre-gestational diabetes there is often ____
Macrosomia
IUGR
