Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Neuro > Neuro Eval of Children > Flashcards

Neuro Eval of Children Flashcards

0
Q

how to test motor system

A

tone assessment more important than strength; resistance to passive movement

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
1
Q

things to assess in history

A

pregnancy, labor, and deliver
prenatal factors
pre and perinatal factors (genetics, family history)
perinatal events

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

tone is what relatd

A

state

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q
  • SPINAL MUSCULAR ATROPHY

genetcs

A

Autosomal recessive–• Locus on 5q13, containing (SMN1) identified as the SMA disease gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

how does SMN1 work

A

• SMN1 duplicated with highly homologous copy SMN2; both transcribed
–SMN2 gene present in SMA pts but not able to compensate for SMN1 deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

enough copes of SMN2

A

older onset or dsease goes away

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

s/s of spnal muscular atophy

A

Symmetric mm. weakness Atrophy
Absent DTR
Tongue fasciculations
Tremor –

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

SMA • Werdnig-Hoffman disease

A

type 1
infantile onset
• Weakness, hypotonia within first 6 months
• Death in first 2 years; No treatment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

SMA type 2

A

(intermediate)

• Sit, cannot stand or walk

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

SMA type 3

A

(Kugelberg-Welander) – Proximal weakness after 18 months
• Walk, do not run
 

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

charcot mare tooth

A

• Most commonly inherited peripheral neuropathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

CMT etology

A

Majority are AD (CMT1 and CMT 2)
• Peripheral nervous system myelin protein mutations (PMP22)
• Includes all peripheral nerves

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

how does PMP 22 work?

A

• If mutated → Loose/floppy myelin destroyed by the body b/c it is not tightly wound, compacted

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

s/s CMT

A
  • Progressive distal weakness, foot drop
  • Steppage gait
  • Mild sensory loss
  • Depressed DTRs, heelcord contractures, high arches with hammer toes
  • Inverted champagne bottle legs – Muscular thigh with skinny gastrocnemius
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

prognoss CMT

A

normal lfespan

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Tx CMT

A

• Orthopedic support, bracing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Congenital forms MG

A
  • Transient neonatal (mother with MG) via passive transfer of Abs
  • Congenital MG: some other defect at the NMJ
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Dystrophin

A

very large subsarcolemmal protein that acts as a “shock absorber”

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

lack of dystrphn

A

→ muscle contracts → membrane will fracture

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Dystrophin associated proteins (DAPs):

A

transmembrane and extracellular complexes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Gower’s Maneuver

A

Sit cross legged and stand up not using the wall nor a parent
–>Butt first and then crawl up their legs

duchenne muscuar dstrophy

22
Q

dx duchennes

A

prev muscle, now blood test

23
Q

prognosis DM

A

wheelchar bound at 11-12 years

24
Q

tx DM

A

Use steroids to delay hitting wheelchair by 10-12 months

• Eteplirsen infusion:

25
Q

Eteplirsen infusion

A

new compound that is only useful in 10% of patient (need specific stop codon mutataion) → skips reading frame stop codon → “good enough” dystrophin protein produced

26
Q

NF1 genes

A
  • Autosomal dominant with variable penetrance
  • Long arm chromosome 17
  • Gene function as a tumor/growth suppressor
27
Q

NEUROFIBROMATOSIS 2 genes

A
  • Autosomal dominant

* Chromosome 22q11

28
Q

NF1 path

A

• Café-au-lait spots (CAL): light brown macules
o Aggregations of neural-crest derived melanoblasts in basal layer of epidermis
• Neurofibromas: fleshy tumor that appears with age and enlarges
o Usually pea-sized
• Plexiform neuroma: large tumors that may cause pain, overgrowth of a limb
• Lisch nodules: iris hamartomas

29
Q

NF2 path

A

• Schwannomin: links membrane proteins to cytoskeleton

o If absent → loss of cell contact inhibition

30
Q

NF1 symptoms

A

mult. tumors in CNS and PNS
- -neurofibromas along periph nerve

  • Cutaneous pigmentation
  • Cutaneous pigmentation
  • Cognitive disabilities
31
Q

most common neurofibroma

A

o Optic nerve gliomas

32
Q

NF2 symptoms

A
  • Bilateral vestibular schwannomas (acoustic neuroms is a misnomer) affect 95% of patients
  • a/w multiple other CNS tumors, meningiomas, gliomas
33
Q
  • TUBEROUS SCLEORIS genes
A
  • Autosomal dominant
  • 1/3 of cases are familial
  • Majority are spontaneous
  • Two genetic loci
  • TSC 1 (9q)
  • TSC 2 (16p)
34
Q

s/s - TUBEROUS SCLEORIS

A

• Mental deficiency
Epilepsy/seizures
• Skin lesions
• Abnormalities in brain, eyes, skin, kidney, bones, heart, and lungs

35
Q

path

A
  • Tubers: hamartomatous lesions involving gliotic tissue, astrocytes, disordered cortex; may be calcified
  • Subependymal nodules “candle gutterings”
  • Giant cell astrocytomas (5%) → Foramen of Monro impedance → hydrocephalus
36
Q

Dx TS

A
  • MRI diagnostic in majority of cases
  • Cloudy patches, even present in newborns
  • Wood’s lamp examination important for infant with unexplained seizures
37
Q

Tx TS

A
  • Surgery is now routine for epilepsy to remove tumor and surrounding tissue
  • Serial re-evaluations of heart, kidney, and brain
38
Q

sturge weber genes

A

• Spontanous mutation, not familial

39
Q

patho sturge weber

A

• Venous angioma of leptomeninges

40
Q

s/s sturge weer

A

• Ipsilateral facial “port-wine stain”

congenital glaucoma

• Early onset seizures in up to 90%

  • Hemiplegia, hemianopia (progressive)
  • Intellectual disability in 40% of patients
41
Q

DX sturge weber

A

• MRI with contrast

42
Q

tx sturge weber

A

• Early onset seizures/catastrophic epilepsy is an indication for hemispherectomy in a baby

43
Q
  • AGE-DEPENDENT EPILEPTIC ENCEPHALOPATHIES a/w
A

• PKU, tuberous sclerosis, Aicardi syndrome, trisomy 21, pyridoxine dependency, many others

44
Q

• Risk of generalized tonic-clonic seizures after - ABSENCE SPECTRUM

A

50% overall
• If untreated, until you outgrow it

70% outgrow by puberty

45
Q

BENIGN ROLANDIC EPILEPSY genes•

A

• Autosomal dominant, incomplete penetrance

46
Q

s/s BENIGN ROLANDIC EPILEPSY

A
  • Onset 2-14 years with 85% between 4-10 years
  • Simple partial seizures are the main seizure type
  • 50% have < 5 seizures
  • 8% have > 20 seizures
  • A/w learning disabilities
47
Q

EEG BRE

A

centro-temporal spikes, activated by sleep

occur when pt asleep

48
Q

prognoss BRE

A

• Outgrown by 16-18 years; “nice epilepsy to deal with b/c you can be reassured that it’s going to go away”
- FEBRILE SEIZURES

49
Q
  • FEBRILE SEIZURES are ot
A

consdered eplsepy

50
Q

s/s febrle sezures

A
  • Onset between 6 months to 6 years with peak at 16-18 months
  • Age of onset is a risk factor for recurrence
51
Q

prog febrle sezures

A
  • Typically outgrow them
  • Risk for epilepsy
  • Simple febrile seizure 1-2%
  • Complex febrile seizure 20-40%

Neuro (23 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions