Lecture 13 Pediatrics Flashcards
When does the nervous system first appear in gestation
On average when does the neural tube form
21 days
25 days
What are the 3 primary brain vesicles
Prosencephalon, mesencephalon, rhombencephalon
Note: by week 5 there’s 5 vesicles
What part of the fetus brain becomes the cerebral hemispheres
What part becomes the midbrain
Telencephalon
Mesencephalon
What nutrient is essential for preventing neural tube defects
Folate
What is dysraphism?
What is anencephaly
Disorder of neural tube closure
Fatal disorder w/ absence of brain in development.
What are the risk factors of dysraphism
Low socioeconomic status, maternal nutritional status, teratogens (alcohol and medications)
What are the 3 types of spina bfidia
Occulta
Meningocele
Myelomeningocele
Occulta- vertebral arch defect
Meningocele- dura and arachnoid herniation
Myelomeningocele- herniation of spinal cord
Where is spina bfida occulta most common?
L5 to s1
Note: usually asymptomatic
What are the potential complications of Myelomeningocele
- Hydrocephalus
- Risk of tethered cord syndrome
What is tethered cord syndrome?
What category of motor neuron disorders does it cause?
Traction of spinal cord (stuck at one level and unable to move normally)
Causes lower motor neuron disorder
What is Arnold-chiari malformation
Hindbrain is sticking out of foramen magnum
Note: sometimes asymptomatic, if it’s over 5mm we are concerned
What are the 3 types of Arnold Chiari malformation
Type 1: cerebellar tonsils displaced > 6mm
Type 2: associated with Myelomeningocele
Type 3: associated with encephalocele
What are the symptoms of Arnold chiari malformation
Hydrocephalus, headache, cerebellar/medullary/cranial nerve signs
What is dandy walker malformation?
Cerebellar vermis developmental anomoly w/ large cyst in posterior fossa (theyre misising their cerebellum)
50% associated w/ mental retardation
How do doctors treat hydrocephalus in children?
Ventriculo-peritoneal shunt
Microcephaly
Macrocephaly
Craniostenosis
Microcephaly - small head (Causes: idiopathic, chromosomal, toxic)
Macrocephaly - Large head (hydrocephalus, genetic, gigantism)
Craniostenosis- Skull sutures fuse early and alter the shape of the head
How do you classify a global delay?
If there is a delay in 2+ of the domains.
-Gross motor
-fine motor
-expressive language
-receptive language
-social/adaptive behavior
There is a delay if a child is less than 70% of the norm
Sitting unsupported should happen at what age?
6 months
walking should happen at what age?
12 months
tricycle riding should happen at what age?
3 years
first words should happen at what age?
12 months
putting words together should happen at what age?
2 years
What is an important biological measurement that pediatricians measure on kids?
head size
child headsize that suddenly increases or decreases ____ percentiles is concerning
2 percentiles
What are the 5 normal primitive reflexes
Moro reflex
tonic neck reflex
grasp reflex
step reflex
crawl reflex
Red flag: head size ____________ percentiles
crossing 2
red flag: __________ to respond to sounds
failure
red flag: __________ beyond 3 months
fisting
red flag: rolling _______ 3 months
before (indicates one side is weak and other is favored)
Red flag: persistent __________ reflex after 6 months
MORO reflex (where they abduct their arms when theyre leaned back or when theyre startled)
red flag: persistent ____________________ reflex and not rolling beyond 7 months
asymmetric tonic neck reflex
red flag: Not sitting after ____________
9 months
red flag:
Delayed smiling ____________
laughing ______________
cooing _____________
first words ____________
> 1 month
> 2-3 month
> 3-4 months
> 12 months
red flag: handedness ___________________
before 12 months (indicates one side is weak and other is favored)
red flag: persistent echolalia after _______
red flag: noticable __________ after 4 years
3 years
stutter
At any age: decline in speech ability or vocab
How does a delay differ from a regression
Regression: acheived milestones are lost
more serious
What are predominant causes of speech delays?
- Multilingual family
- Hearing loss
- Infantile autism
What conditions can mimic regression in a child
- New onset of seizures
- Misperception of milestones
- Increased spasticity
- Movement disorders
- Hydrocephalus
Down syndrome (trisomy 21)
And Fragile X are both examples of what kind of disorder?
Which is the most common cause of intellectual disability of this disorder class?
Chromosomal disorders
Fragile X is the most common chromosomal cause of intellectual disability
Who does Down syndrome affect more?
Risk increases with advanced ______
2% risk of reoccurrence in next child
Men
Advanced maternal age (35+)
What are the facial features associated with down syndrome
Broad flat face
Slanted eyes
Epicanthic eye fold
Short nose
What are the facial features of fragile X syndrome?
What is the average IQ
Long face, enlarged ears, high arched palate
IQ 40-55
Note: should be considered in all cases with intellectual disability or autism spectrum disorders
What does TORCHS stand for?
Infectious causes of developmental delay
- Toxoplasmosis
- Other
- Rubella
- Cytomegalovirus
- Herpes or HIV
- Syphilis
What is the most important intervention for developmental delays
Refer to specialist if under 3
Is cerebral palsy progressive or non progressive
Non progressive
CP is damage to the brain one time and then they’re left with permanent deficits but those deficits don’t get worse
What can cause CP?
Any disturbance to the developing brain in utero or around the time of the delivery
What is the most common time CP is caused?
Anenatal (before birth)
Perinatal (during birth)
Post natal
Anenatal
What are protective factors against CP
Magnesium sulfate
Antibiotics
Corticosteroids
What are the 4 CP classifications?
Which is most common?
Spastic (more common)
Dyskinetic
Ataxic
Mixed
What are the classifications of spastic CP?
Spastic Hemiparesis
Spastic diplegia
Spastic quadriplegia
Athetoid/extrapyramidal
How does spastic Hemiparesis present
Arm > leg
Child develops handedness early
18-50% intellectual disability
What is damaged in spastic Hemiparesis and what is the common cause
Lesion of one corticospinal system in cerebral hemisphere
Stroke in MCA
How does spastic diplegia present
Weakness in legs more then arms
Scissoring gait (adductor spasm)
Usually normal intelligence
What causes spastic diplegia
Damage to ACA and PCA
What is the most severe form of CP
Spastic quadriplegia
What causes dyskinetic CP
Damage to basal ganglia
Causes chorea, dystonia, athetosis
How does dyskinetic CP present
Hypotonia in infancy, abnormal movement starting at 1
Unable to walk
What is the rarest form of CP
What structure is involved
Ataxic CP
Cerebellum
Truncal and gait ataxia that doesn’t respond well to to drugs or PT
What is baclofen for
Spasticity
What is commonly injected to treat CP
Botulinum (Botox)
What is a selective dorsal rhizotomy
Surgery for CP
They cut the nerve causing spasticity
Neurofibromatosis and tuberous sclerosis are what
Neurocutaneous disorder
What are the two forms of neurofibromatosis
Which is more severe?
Which chromosomes are affected?
Peripheral or central?
NF1 - chromosome 17
Primarily affects skin and peripheral nerves
NF2- chromosome 22, primarily affects CNS, more severe
Neurofibromatosis has what kind of inheritance
Autosomal dominant
Tuberous sclerosis has what kind of inheritance
Autosomal dominant
How does tuberous sclerosis present
Lesions in nervous system, skin, bones, retina, kidneys
White hard nodules on surface of brain and into ventricals
Calcifications
50% mental retardation seizures
Skin has depigmented macules (look like bad acne).
What kind of genetic metabolic disorders are demyelinating
Leukodystrophies
What kind of inheritance does adrenoleukodystrophy have?
recessive X linked (affects only boys)
How does adrenoleukodystrophy usually present
Normal early development
At about 8 - progressive dementia, seizures, spasticity
What is metachromatic leukodystrophy
Demyelination of PNS and CNS
can affect any age
Gait failure, mental deterioration, seizures
In infants UMN damage does what to tone?
Decreases it
Unlike in adults where it increases tone
What is duchennes muscular dystrophy?
What muscles is it evident in
Muscular dystrophy at 3-5
Hyperlordotic posture, toe walking, ankle dorsiflexor/ hip weakness
Calf pseudohypertrophy
What is the prognosis of Duchens muscular dystrophy
More severe > BMD
boys will be in wheelchair by 9-12
Life expectancy about 20
1/3 with mental retardation
How does Becker muscular dystrophy differ from duchens
Ambulatory for longer (30)
IQ normal
How are dystrophies diagnosed
Phenotype (observation) -> test for high CK -> DNA analysis
How does Becker muscular dystrophy present?
Myalgia
Isolated quad weakness
Rhabdo
Cardiomyopathy
How is spinal muscular atrophy inherited?
How does it present
Autosomal recessive
Progressive loss of motor neurons in spinal cord
Spinal muscular dystrophy
Type 0
Type 1
Type 0- prenatal - death
Type 1- age of onset 6 months.
Never Sit. Dies by 2
Spinal muscular dystrophy
2
3
4
2- Never Stand (age 6-12 months)
70% survive to 25)
3- never run, age 12 months+ (nearly normal life expectancy)
4- adult onset. Proximal leg weakness
What is the cool new 2 million dollar treatment for Spinal muscle atrophy
Zolgensma
One time treatment
Where does infantile botulism come from
What does it cause
Honey and corn syrup
Prevents release of acetylcholine
Acute generalized weakness
What nerve roots r most commonly hurt in kids due to brachial plexus injuries
C5-C6
Good prognosis
Head pushed down away from shoulder causes what palsy
Erbs Palsy
C5-c6
Weakness of shoulder abduction, elbow flexion, supination
Injury caused by arm pulled upward
Klumpke Palsy
C8-T1 damaged
Claw hand
