Neuro - Reggio Flashcards
1
Q
Peds neurology includes…
A
- Normal and abnormal development
- CNS insults (infection, trauma, ischemia)
- Abnormalities of muscles and nerves (SMA, dystrophies)
- Seizures and other spells
- Genetic Disorders
- And 100,000 obscure disorders
2
Q
Peds neurology impact on miscarriages and/or live births
A
- Unknown percent (>50%) of miscarriages
- 40% of all infantile deaths
- 1-2% of all births
3
Q
List the identified etiology of NDD (Neurodevelopmental Disorders)
A
- Chromosomal abnormalities & other DNA mutations
- Toxins/teratogens exposure
- CNS infections
- Metabolic disorders
- Vascular insults
- Trauma
4
Q
Define homeobox genes
A
encode DNA binding proteins that control:
- Timely gene expression (transcription & translation to direct protein synthesis and then produce the structures of a cell)
- Morphogenesis (development and growth of the structure of an organism)
- Cell differentiation (identification of specialized function of that cell)
- And probably timed-apoptosis (cell turnover/natural regeneration)
5
Q
Mutations in homeobox genes
A
lead to CNS malformations
6
Q
Normal development during gestational week 3
A
Neural tube invaginates
7
Q
Normal development during gestational week 4
A
- Anterior then posterior ends of NT close
- Brain & head = 50% total body length
- Rapid neuronal division into bipolar neuroblasts (up to 250,000 divisions/minute)
- Radial glia appear & migration begins
8
Q
Define deformation
A
secondary damage to normally formed tissue
9
Q
Define malformation
A
defect due to abnormal morphogenesis (i.e. in development)
10
Q
Malformation
-dysplasia
A
abnormal cellular organization leading to structural or functional aberrations
- localized: e.g. hemangioma
- generalized: e.g. abnormal collagen
11
Q
Malformation
-heterotopia
A
portion of an organ displaced to an abnormal site within the same organ
12
Q
Malformation
-hamartoma
A
disorganized portion of an organ within its normal site, e.g. abnormal cortical lamination
13
Q
What is the importance of timing of insult during development?
A
- An insult that occurs early in the nervous system development may lead to a variety of secondary defects
- The earlier the insult, the more severe the defect**
- -Primitive neural tube starts developing at 3 weeks gestation
- -CNS development continues into late childhood
14
Q
Describe the anticipatory guidance
A
- An essential part of the health supervision visit is anticipatory guidance.
- This must be appropriate to age, focus on concerns expressed by the parent and patient, and address issues in depth – not just running through a checklist like ROS.
- Areas of concern include diet, injury prevention, developmental and behavioral issues, and health promotion.
15
Q
List the common mental and behavioral topics on which the pediatrician must be comfortable counseling
A
discipline, temper tantrums, toilet training, biting, and sleep problems.
16
Q
List the mental health issues pediatricians commonly address
A
ADHD, anxiety, depression, school problems, or family stressors (such as separation, divorce, or remarriage).
17
Q
Which areas should have low threshold for referral?
A
The pediatrician should know the warning signs of childhood depression and bipolar disorder
18
Q
What are the symptoms ascribed to the process of tooth eruption or teething?
A
- Fussiness
- Change in eating pattern
- Chewing on things
- Increased slobbering
19
Q
Are fevers associated with teething?
A
medical books say any temporal association with fever, upper respiratory infection, or systemic illness is coincidental rather than related to the eruption process.
20
Q
List the important parts of the physical exam for teething
A
-Vital signs, including temperature
-Assess anterior fontanelle, sutures, and head circumference for increased intracranial pressure, which may occur with meningitis or space-occupying lesion.
-Assess for signs of meningitis such as nuchal rigidity.
-Examine ears and throat for infection.
-Examine skin for rashes and other signs of infection.
-Examine heart and lungs for infection.
Assess for trauma/abuse.
21
Q
OTC teething treatment
A
- Common therapies for teething pain include the application of over the counter teething gels or liquids.
- Being careful to use in excess with children < 2; can cause rare but serious methemaglobinemia.
- Systemic analgesics such asacetaminophenor ibuprofen are safer and more effective.
- Chewing on a teething object can be beneficial, if only for distraction purposes.
22
Q
Tx for swelling of alveolar mucosa
A
- swelling of the alveolar mucosa overlying an erupting tooth can be seen as localized red to purple, round, raised, and smooth lesion
- treatment rarely needed as these eruption cysts/hematomas resolve with tooth eruption
23
Q
What are the 2 age ranges for immunization schedules?
A
- 4 months to 18 yrs
- 18yrs and younger with medical conditions
24
Q
Describe seizures
A
Seizures arise from abnormal electrical discharges in the cerebral cortex that lead to alterations of consciousness, behavior, motor activity, sensation, or autonomic function that are short in duration but tend to reoccur.
25
Define epilepsy
- 2 or more seizures without acute provocation (such as fever, trauma, chemical, drug (immunization) or strobe effect, etc.)
- Seizures are classified as partial(focal), generalized, and unknown.
26
Define partial (focal) seizures
Those in which, in general, the first clinical and electrographic changes indicate initial activation of a system of neurons limited to part of one hemisphere.
27
Define generalized seizures
Those in which the first clinical changes indicate initial involvement of both hemispheres.
Motor manifestations are bilateral
28
Classifications of partial (focal) seizures
- Simple-partial OR partial-partial (no change in awareness) often abnormal activity of a single limb; can occur at any age.
- Complex-partial (change in awareness, aura, and postictal state = lethargy, confusion, and/or focal deficit) may have complex sensory hallucinations and mental distortion.
29
List the motor dysfunctions of complex-partial seizures
- Motor dysfunction includes automatisms: chewing movements, blinking, nose wiping, picking at fingers or lip smacking.
- Presence of aura or focal postictal deficit imply a focal-onset (=partial) seizure.
30
Classifications of generalized seizures
- Generalized tonic-clonic (GTC = grand mal)
- Juvenile myoclonic epilepsy (JME)
- Absence (= petit mal) – childhood onset, automatisms – rapid blinking, but no postictal state *sudden brief self limited altered awareness, rapid blinking, staring, amnesia for event*
- Other – generalized tonic, generalized clonic, atonic
31
What is another name for generalized tonic-clonic (GTC) seizure?
Formerly known as GRAND MAL seizure
32
Define tonic phase of GTC
* stiff
- diffuse muscle contractions
- limbs stiffen, back arches, abdominal muscles contract, jaws clench
- results in tongue biting, urinary or fecal incontinence, abnormal cry or shout
33
Define clonic phase of GTC
* shaking/jerking
- shaking of 4 limbs
- injury to head & limbs can occur from striking hard surfaces
34
Etiology of juvenile myoclonic epilepsy (JME)
* MC “idiopathic primary generalized epilepsy”
- Starts in early adolescence, typically around age 15
- Myoclonic jerks, GTC, or absence seizures in morning
- Normal intelligence
- Seizures commonly triggered by sleep deprivation
- Family history of similar seizures
35
Dx of JME
Characteristic EEG: 4-6 Hz irregular polyspikes & waves
36
Tx of JME
REQUIRES: lifelong anti-epileptic drug use
Valproate (= valproic acid or divalproex) or lamotrigine
**DO NOT use phenytoin or carbamazepine – they may exacerbate JME**
37
Diagnosis of status epilepticus
Prolonged (> 30 mins) or recurrent GTC seizures without return to consciousness
38
List diff dx of status epilepticus
- Subtherapeutic antiepileptic drug level
- Abnormal chemistries
- Meningitis
- Drug Toxicity
- Alcohol Withdrawal
- Sepsis
- Mass (tumor, abscess, AVM, hemorrhage)
- Head trauma (Primary or Secondary - evaluate for subdural hematoma (secondary to head trauma during the seizure)
- Encephalitis
- Encephalopathy (hypoxic-ischemic, HIV, Alzheimer)
39
Tx of status epilepticus
- Protect head & extremities from trauma
- Do NOT place anything into pts mouth (increases risk of aspiration and tongues heal well)
- Correct underlying abnormalities (ie. Electrolyte abnormalities – Thiamine and Glucose)
- Monitor blood pressure & ECG continuous
40
Tx to abort a seizure in status epilepticus
- Lorazepam 0.1 mg/kg IV push @ < 2 mg/min (only if pt actively seizing) may repeat once
- If after 30 minutes seizure continues, patient should be intubated and then started on pentobarbital, midazolam, or propofol.
41
Tx to prevent seizures/management once status has been aborted in status epilepticus
- Phenytoin or
| - Fosphenytoin 20 mg/kg IV @ < 150 mg/min (prevents - not stopping seizure)
42
Define febrile seizures
- Consist of generalized tonic-clonic seizures of short duration and accompanied by high fever.
- Occur between 6 months and 4 years of age, peak age is 18 months.
- MC childhood seizure***
43
What are the 2 types of febrile seizures?
1. simple
| 2. complex
44
Simple febrile seizures
febrile seizures that are generalized, last < 15 minutes, AND do not recur in 24 hours
*Caused by fever spiking really fast or dropping really fast
45
Complex febrile seizures
- febrile seizures that are focal (including postictal weakness), last ≥ 15 minutes, OR occur > 1 time in 24 hours
- febrile status epilepticus: 1 febrile seizure or series of febrile seizures without full recovery in between lasting ≥ 30 minutes
46
Risk factors, genetics, and prevention for febrile seizures
- Risk factors: positive family history.
- Genetics: usually multifactorial or polygenic inheritance.
- Prevention: antipyretics do not reduce the recurrence risk of simple febrile seizures.
47
Pathophysiology of febrile seizures
- Elevated temperatures in developing brain may increase neuronal excitability.
- Fever increases cytokines that may enhance neuronal excitability.
- Genetic factors
- Hyperventilation from fever causes a respiratory alkalosis that may promote seizures.
48
Questions to ask for h/o febrile seizures
| -detailed description of spell to see if it was a seizure
- Circumstances in which spell occurred
- Duration
- Focal features suggest seizure
- Postictal weakness suggests seizure
49
Questions to ask for h/o febrile seizures
| -ask about prior seizures/spells
- Prior afebrile seizure suggests epilepsy.
- Prior febrile seizures supports diagnosis.
- Prior nonepileptic spells
50
Questions to ask for h/o febrile seizures
| -determine cause of fever/illness
- Duration
- Height of fever
- Symptoms: rhinorrhea, diarrhea
- Ask about new neurologic symptoms such as headache or change in gait that would require further evaluation.
- Ask about toxin ingestions
- Medications including antibiotics
51
Questions to ask for h/o febrile seizures
| -seizure risk from PMH
- perinatal complications
- prior brain insult: trauma or meningitis
- developmental delay
52
Questions to ask for h/o febrile seizures
| -seizure risk from family history
- febrile seizures
| - epilepsy
53
Physical exam for febrile seizures
- Vital signs, including temperature
- Assess anterior fontanelle, sutures, and head circumference for increased intracranial pressure, which may occur with meningitis or space-occupying lesion.
- Assess for signs of meningitis such as nuchal rigidity.
- Examine ears and throat for infection.
- Examine skin for rashes and other signs of infection.
- Examine heart and lungs for infection.
- Assess for trauma.
54
Detailed neuro exam for febrile seizures
- Assess skin for neurocutaneous syndromes.
- Assess mental status.
- Assess for subtle signs of seizure such as myoclonus or nystagmus.
- Examine cranial nerves. Include funduscopic exam for papilledema.
- Examine gait, motor system, sensation, coordination, and deep tendon reflexes for abnormalities and asymmetries.
55
Dx tests + labs for febrile seizures
Review boxes of knowledge on slide 40 :)
56
Abortive tx for febrile seizures
consider rectal diazepam (0.5 mg/kg) for febrile seizures ≥ 5 minutes; may cause drowsiness and ataxia; rarely causes respiratory depression.
57
Preventative tx for febrile seizures
- In certain clinical circumstances, for parental anxiety, may use oral diazepam (0.33 mg/kg every 8 hours) to the patient during a febrile illness until afebrile for 24 hours; may cause drowsiness and ataxia.
- Daily phenobarbital, valproate, or primidone prevents febrile seizures, but risks outweigh benefits.
58
Key to tx of febrile seizures
treat the underlying infection or cause of the fever**
59
Seizures clinical pearls
- Switching from brand to generic drug is safe.
- Monitor seizure activity after switch for 2 months.
- Encourage helmet usage to minimize head injuries.
- To consider driving, states require seizure-free period from 3 to 12 months.
- Drug initiation after a single seizure will decrease risk of early seizure recurrence but does not affect long-term prognosis of developing epilepsy.
60
Definition of cerebral palsy
- CP is described as a group of clinical syndromes characterized by motor and postural dysfunction due to permanent and non-progressive disruptions in the developing fetal brain.
- Motor impairment resulting in activity limitation is necessary for this diagnosis.
- The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, cognition, communication, perception and/or behavior, and/or by a seizure disorder.
61
Cont. definition of CP
- Chronic motor disability of cerebral origin, that can evolve in time but is non-progressive, usually appearing before 1 year of age
- Prevalence: 2/1000 live births
* *NOT the same thing as mental retardation!
- About 25% of kids with CP also have MR
- Some kids with mild CP may achieve normal motor milestones with therapy
62
Etiology/Pathophysiology of CP
- CP results from static injury or lesions in the developing brain, occurring prenatally, perinatally, or postnatally.
- Cytokines, free radicals, and inflammatory response are likely contributing factors.
- Etiology is most likely multifactorial and depends on timing of brain insult: prenatally, perinatally, or postnatally
63
List the 3 types of CP
1. spastic
2. dyskonetic or athetotic
3. ataxis
64
Define spastic CP
**MC
| usually related to premature birth, with either periventricular leukomalacia or germinal matrix hemorrhage.
65
Define dyskonetic or athetotic CP
often resulting from kernicterus, is now rare due to improved management of hyperbilirubinemia.
66
Define ataxic CP
**least common
| results in a lack of coordination and order that causes tremors and may also have speech and oral problems.
67
Prenatal risk factors for CP (many**)
congenital anomalies, multiple gestation, in utero stroke, intrauterine infection (cytomegalovirus [CMV], varicella, toxoplasmosis), intrauterine growth retardation (IUGR), clinical and histologic chorioamnionitis, antepartum bleeding, maternal factors (cognitive impairment, seizure disorders, hyperthyroidism), abnormal fetal position (e.g., breech), maternal injury resulting in fetal trauma (MVA, most common)
68
Perinatal risk factors for CP
preterm birth, low birth weight, periventricular leukomalacia, perinatal hypoxia/asphyxia, intracranial hemorrhage/intraventricular hemorrhage, neonatal seizure or stroke, hyperbilirubinemia
69
Postnatal risk factors for CP
traumatic brain injury or stroke, sepsis, meningitis, encephalitis, asphyxia, and progressive hydrocephalus
70
What are the 2 CP subtypes?
1. pyramidal
| 2. extrapyramidal
71
Work-up for CP
- MRI
- Karyotype (± FISH, CMA)
- Other blood work depending on associated findings
72
Define meningitis
Inflammation of the membranes of the brain or spinal cord, usually caused by viruses or bacteria and, rarely, fungi or parasites.
73
MC subtypes of meningitis
- bacterial
| - viral
74
Agents in bacterial meningitis
MC agents in children of all ages include: Streptococcus pneumoniae and Neisseria meningitidis.
75
Viral meningitis
Overall MC type of meningitis***
MC isolated virus are enteroviruses that tend to occur in outbreaks in summer and early fall.
76
Less common subtypes of meningitis
- fungal
| - tuberculous
77
Description of bacterial meningitis
| -general
- inflammation of the arachnoid, pia mater, and CSF.
| - is a medical emergency, requiring immediate diagnosis and antibiotic treatment.
78
Description of bacterial meningitis
| -clinical settings
-Meningococcal meningitis noted in areas of crowded conditions such as classrooms, military, prison systems, or dormitories.
-Pneumococcal meningitis noted in patients with acute otitis media and pneumonia.
Staphylococcus aureus meningitis noted as a complication of a neurosurgical procedure, trauma, or secondary to endocarditis.
79
Which type of meningitis causes outbreaks?
Meningococcal meningitis is the only type that occurs in outbreaks.
80
Prevention of bacterial meningitis
- Hib – Hemophilus Influenza B
- PCV13 – S. pneumonia (both @ 2, 4, 6, and 12-15 mos);
- MCV4 – Tetravalent Meningococcal Vaccine - MENVEO(1st dose btwn 11 and 15 yrs).
81
Clinical manifestations of bacterial meningitis
Present with acute onset of fever, headache, vomiting, and stiff neck.
82
Bacterial meningitis on physical exam
- Petechial or purpuric rash may be noted in meningococcal infection.
- Meningeal irritation noted by drowsiness, obtundation, stiff neck, positive Kernig's and Brudzinski's signs.
83
Kernig's sign for bacterial meningitis
- With patient supine and hip and knee flexed to 90 degrees, further extension of the knee causes pain in the neck or hamstring.
* *This is a positive Kernig's sign.
84
Brudzinski's sign for bacterial meningitis
Flexing the neck of a supine patient resulting in flexion of the hip and knee is a positive Brudzinski's sign.
85
Neuro findings in bacterial meningitis
- Cranial nerve abnormalities - Typically cranial nerves III, IV, VI, and VII.
- Seizures
- Brain swelling (Papilledema is rare).
- Focal cerebral signs such as hemiparesis, dysphagia, and visual field defects.
-Complications include hydrocephalus, deafness, seizures, and cranial nerve palsies.
86
What is gold standard dx of bacterial meningitis?
CSF**
87
Tx of bacterial meningitis
bactericidal agents
* must be able to cross into CNS
- initial therapy for bacterial meningitis of unknown cause varies based on age group; but best recommended is the use of a combination of aminoglycoside and 3rd gen cephalosporins.
88
Chemoprophylaxis tx for bacterial meningitis
- Chemoprophylaxis of close contacts of patients with meningococcal meningitis is needed.
- Clear everyone out minimize exposure (PPE) as soon as suspected – document all involved.
89
Tx of bacterial meningitis
- Oral rifampin is the drug of choice.
- Oral ciprofloxacin, ofloxacin, or azithromycin can be used as alternatives.
* Azithromycin is the best option to use in pregnancy – others should be avoided*
90
Define viral meningitis
- Sometimes called aseptic meningitis
- Normal brain function distinguishes it from encephalitis
- The manifestations of viral meningitis are generally similar to those of bacterial meningitis, but often are less severe
91
Presentation of viral meningitis
Acute onset of fever, headache, nausea, vomiting, anorexia, rash and/or URI sx’s.
92
Tx of viral meningitis
Treat like bacterial meningitis until it is ruled out**
93
Characteristics of Down Syndrome
- upslanting palpebral fissures
- epicanthal folds
- midface hypoplasia
- small, dysplastic pinnae
- minor limb abnormalities (overlapping fingers and rocker-bottom feet)
- generalized hypotonia/increased flexibility
- cognitive disabilities (usually mild to moderate)
94
What is Down Syndrome associated with?
congenital heart disease (most often endocardial cushion defects or other septal defects VSD or PDA) and 15% of cases have gastrointestinal anomalies (including esophageal and duodenal atresias).
95
Clinical manifestations of Down Syndrome
- affected newborn may have prolonged physiologic jaundice, and transient blood count abnormalities.
- feeding problems and constipation are common during infancy
- problems which may develop during childhood include thyroid dysfunction, visual issues, hearing loss, obstructive sleep apnea, celiac disease, atlanto-occipital instability, and autism*.
- leukemia is 12–20 times more common in patients with Down syndrome.
96
Dx of Down Syndrome
Chromosomal Genetic testing of patient and parents.
97
Tx of Down Syndrome
- counseling for parents and support groups
- Medical interventions for specific issues such as surgical intervention for cardiac and GI anomalies, screening for autoimmune disorders such as hypothyroidism and celiac disease, developmental supports such as infant stimulation programs, special education, and physical, occupational, and speech therapies are all indicated.
98
Genetic counseling for Down Syndrome
- Trisomy arises from errors of nondisjunction.
- Most parents of trisomic infants have normal karyotypes.
- The risk of having a child affected with a trisomy increases with maternal age.
- The recurrence risk for trisomy in future pregnancies is equal to 1 per 100 plus the age-specific maternal risk.
99
Turner Syndrome incidence
* AKA Monosomy X, Gonadal Dysgenesis
- 1 per 10,000 females.
- However, it is estimated that 95% of conceptuses with monosomy X are miscarried and only 5% are liveborn.
100
Diagnosis and typical features of Turner Syndrome
- Webbed neck, triangular facies, short stature, wide-set nipples, amenorrhea, infertility, and absence of secondary sex characteristics.
- Associated with coarctation of the aorta and genitourinary malformations.
- IQ is usually normal but learning disabilities are common, secondary to difficulties in perceptual motor integration.
- Mosaic individuals may manifest only short stature and amenorrhea.
101
Dx of Turner Syndrome
Chromosomal Genetic testing of patient and parents.
102
Tx of Turner Syndrome
- Hormonal treatment includes estrogen therapy, which permits development of secondary sex characteristics and normal menstruation, and prevents osteoporosis.
- Growth hormone therapy is also used to increase the height of affected girls.
103
Genetic counseling for Turner Syndrome
- Females with 45,X or 45,X mosaicism have a low fertility rate, and those who become pregnant have a high risk of fetal death (spontaneous miscarriage, ~30%; stillbirth, 6%–10%).
- Furthermore, their liveborn offspring have an increased frequency of chromosomal abnormalities involving either sex chromosomes or autosomes and congenital malformations.
- Thus, prenatal ultrasonography and chromosome analysis are indicated for the offspring of females with sex chromosome abnormalities.
