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Pediatrics Exam 1 > Lecture 2 - Neonate Medicine and Genetic Syndromes > Flashcards

Lecture 2 - Neonate Medicine and Genetic Syndromes Flashcards

1
Q

NAS

A

Neonatal abstinence syndrome

result of sudden discontinuation of fetal exposure to substance abused by mother

basically the neonate is going through withdrawal

becoming more common due to US opioid crisis

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2
Q

What are the characteristic signs of NAS?

A

Hyperirritiability/High-pitched excessive crying
Tremors
Diarrhea/Vomiting
Hypertonia, exaggerated primitive reflexes
Feeding difficulties
Autonomic dysfunction (sweating, fever, mottling, yawning, sneezing)

seizures in 2-11% of infants
small for gestational age (GSA)
Respiratory distress

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3
Q

At what time frame will you see NAS in pt who had opioids during preganancy?

A

symptoms start around 24 hours

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4
Q

Why is naloxone contraindicated in neonates?

A

can cause siezures

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5
Q

How do you treat NAS?

A

kangaroo care - skin to skin

morphine IV due to short half life

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6
Q

Maternal Diabetes is associated with what?

A

increased risk of fetal, neonatal and long term consequences in offspring

outcome generally related to onset and duration of glucose intolerance/severity of mother’s diabetes

macrosomia (greater than 90th% birth weight)
permaturity
hypoglycemia-hyperinsulinemia
respiratory distress (insulin blocks the maturation of the lung cells)
congenital anomalies

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7
Q

What are neonatal complications of maternal diabetes?

A

macrosomia (greater than 90th% birth weight)
permaturity
hypoglycemia-hyperinsulinemia
respiratory distress (insulin blocks the maturation of the lung cells)
congenital anomalies

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8
Q

FAS

A

Fetal EtOH Syndrome

leading preventable cause of birth defects and developmental disabilities

up to 2 births per 1000 in the US

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9
Q

Fetal Alcohol Spectrum Disorder

A 
includes FAS (umbrella term) 
describes range of effects in individuals exposed prenatally to alcohol 
physical, mentally, behavioral, and cognitive
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10
Q

What are the toxicities associated with FAS?

A

irreversible CNS effects
microcephally
effects impulse control, memory and learning, motor coordination, ability to work toward goals

fetus particularly vulnerable
-inefficient elimination –> prolonged exposure

there is no “safe” EtOH level

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11
Q

What are the effects of EtOH during the 1st trimester?

A

facial anomalies
major structural anomalies
brain abnormalities

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12
Q

What are the effects of EtOH during the 2nd trimester?

A

spontaneous abortion

brain is effected in every stage

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13
Q

What are the effects of EtOH during the 3rd trimester?

A

affects weight, length, brain growth

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14
Q

How do you dx FAS?

A

all 3 of the cardinal facial anomalies

  • small palperbral fissures
  • smooth philtrum
  • thin upper lip

documentation of growth
documentation of CNS abnormality

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15
Q

What are the 3 cardinal facial anomalies?

A
  • small palperbral fissures
  • smooth philtrum
  • thin upper lip
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16
Q

Respiratory Distress in a newborn presents with….

A 
tachypnea
nasal flaring
grunting
retractions 
-suprasternal 
-intercostal
-subcostal
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17
Q

Stertor

A

sonorous snoring sound, mid-pitched, monophonic, may transmit throughout airways, heard loudest with stethoscope near mouth and nose

causes:
nospharyngeal obstruction - secretions, congestion, choanal, enlarged or redundant upper airway tissue or tongue

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18
Q

Stridor

A

musical, monophonic, audile, breath sound. typically high-pitched. Types: inspiratory (above the vocal cords), biphasic (at the glottis or subglottis), or expiratory (lower trachea)

causes:
laryngeal obstrution - laryngomalacia, vocal cord paralysis, suglottic stenosis, vascular ring, papillomatosis, foreign body

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19
Q

Wheezing

A

high-pitched, whistling sound, typically expiratory, polyphonic, loudest in chest

causes: lower airway obstruction - bronchiolitis, pneumonia, MAS (meconium aspiration syndrome)

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20
Q

Grunting

A

low-or midpitched expiratory sound caused by sudden closure of the glottis during expiration in an attempt to maintain FRC (functional residual capacity)

causes: compensatory symptom for poor pulmonary compliance - TTN, RDS, PNA< atelectatsis, congenital lung malformation or hypoplasia, pleural effusion, pneumothorax

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21
Q

What are the potential causes of respiratory distress in newborns?

A

Alterations in normal lung development
-diaphragmatic hernia
Transition from intra-uterine to extra-uterine environment
-TTN (transient tachypnea of the newborn)
-RDS (respiratory distress syndrome)
-MAS (meconium aspiration syndrome)
-PPHN (persistent pulmonary HTN of the newborn)
-Apnea of prematurity

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22
Q

TTN

A

Transient Tachypnea of the Newborn

aka Retain Fetal Lung Fluid Syndrome

common cause of respiratory distress in newborns

caused by decreased clearance of the fluid in the lungs possibly d/t the switching of channels from secreting to absorbing didn’t happen yet

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23
Q

RDS

A

Respiratory Distress Syndrome

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24
Q

MAS

A

meconium aspiration syndrome

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25
Q

PPHN

A

Persistent Pulmonary Hypertension of the Newborn

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26
Q

What is the upper limit of normal for RR in infants?

A

60

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27
Q

What are the risk factors of TTN?

A

prematurity (because you don’t have those last few months where the airway reverses)
delivery by cesarean section (particularly without preceding labor)

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28
Q

How does TTN present?

A

tachypnea and increased work of breathing

persists 24 - 72 hours

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29
Q

How do you treat TTN?

A

may require supplemental oxygen
CPAP may be necessary to drive fluid into circulation
Course is self-limited and dies not usually require mechanical ventilation

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30
Q

How do you prevent TTN?

A

avoiding elective caesarean section before onset of labor in infants <39 weeks gestation

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31
Q

What happens to the lungs (alveolar cells) in the last few months of gestation?

A

chloride and fluid secreting channels in lung epithelium switch from secretion to absorption

this process is enhanced by labor d/t the squeezing of the babies and the adrenaline released

if this doesnt happen you are at risk of TTN

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32
Q

Respiratory Distress Syndrome

A

aka Hyaline Membrane disease

caused by surfactant deficiency or dysfunction

pulmonary edema develops

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33
Q

What are the risk factors of Respiratory Distress Syndrome?

A

Prematurity
Perinatal asphyxia
Maternal diabetes
Absence of maternal steroid administration

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34
Q

What are the XRay findings for TTN?

A

diffuse parenchymal infiltrates due to fluid in the interstitium

fluid in the interlobar fissure

occasionally pleural effusions

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35
Q

What are the clinical presentations for Respiratory Distress Syndrome?

A

presents within 1st hours of life, often immediately after delivery

respiratory distress
cyanosis

self-limited – typically improves in 3 - 4 days

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36
Q

What is the treatment for respiratory distress syndrome?

A

supportive

mild cases may respond to CPAP
more severe require mechanical ventilation
diuresis
no clear guidelines regarding when to administer exogenous surfactant

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37
Q

What is the prevention of RDS?

A

reduce pre-term births; provide antenatal steroids

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38
Q

What does the Xray of a RDS pt look like?

A

ground glass pattern with air bronchograms and low lug volumes

also might be called reticulogranular

39
Q

How does meconium affect infant lungs?

A

inactivates surfactant,

obstructs distal air passages causing hyperinflation and atelectasis

40
Q

MAS

A

Meconium aspiration syndrome

occurs when fetus passes meconium before birth
–meconium stained amniotic fluid

41
Q

What is the incidence of MAS?

A

0.4% - 1.8% seen in infant >37 weeks gestation

fewer than 10% exposed to meconium develop MAS

42
Q

How do pts with MAS present?

A

any infant with meconium stained amniotic fluid who develops respiratory distress after delivery without another known cause is dx with MAS

tachypnea, increased work of breathing, cyanosis (sounds similar to RDS)

43
Q

What is the treatment of MAS?

A

O2
CPAP or mechanical ventilation in severe cases
exogenous surfactant commonly given

44
Q

What do you see on Xray for MAS?

A

diffuse, fluffy infiltrates

45
Q

Persistent Pulmonary HTN

A

failure to achieve or sustain normal decrease in pulmonary vascular resistance

causes right to left shunting of blood across the ductus arteriosus and/or foramen ovale leading to hypoxemia

46
Q

PPHN clinical presentation

A

respiratory distress
cyanosis within hours of birth

get ECHO to r/o structural heart disease, determine direction of shunting, and assess ventricular function

47
Q

PPHN treatment

A

mechanical ventilation, cardiotonic therapy, inhale NO, ECMO

48
Q

Apnea of prematurity

A

cessation of breathing for longer than 15 seconds or cessation of breathing accompanying a bradycardia or desaturation

respiratory pauses are a universal feature of preterm birth, most prominent at lowest gestation ages – usually resolves by 36-40 weeks PCA

49
Q

What is the treatment for apnea of prematurity?

A

CPAP

Methylxathine (Theophylline and caffeine)

50
Q

Congenital Diaphragmatic Hernia

A

developmental defect in diaphragm resulting in a spectrum of potentially severe cardiopulmonary abnormalities

1:2500 to 1:7000 births
80-85% on the LEFT side

51
Q

What side is most commonly affected with congenital diaphragmatic hernia?

A

80-85% on the LEFT side

52
Q

How is congenital diaphragmatic hernia dx?

A

typically by US prenatally

53
Q

What is the treatment for congenital diaphragmatic hernia?

A 
mechanical ventilation, 
treatment of pulmonary HTN, 
evaluation of cardiac performance, 
consideration of ECMO, 
surgical repair
54
Q

TORCH

A

acronym for group of congenitally acquired infections that may cause significant morbidity and mortality in neonates

T: toxoplasmosis 
O: other (syphilis, HBV, varicella zoster, HIV, parvovirus B19) 
R: rubella 
C: cytomegalovirus 
H: HSV
55
Q

What are the cyanotic lesions?

A 
Terrible T's 
Truncus Arterosus 
Transposition of great vessels 
Tricuspid atresia 
Tetralogy of Fallot 
Total anomalous pulmonary venous return
56
Q

How do heart disorders effect infants and what should we as providers do?

A

child is at risk for developmental delay

get:
neurodevelopmental screen
immunizations
regular follow up with cardio

57
Q

Necrotizing Enterocolitis

A

acute inflammatory necrosis of the bowel primarily affect PREMATURE infants

  • K. Pneumonia
  • E. Coli
  • Clostridia
  • Coag neg staph
  • Rotavirus
58
Q

What are the clinical manifestations of necrotizing enterocolitis?

A

abdominal distention, feeding intolerance (emesis, increased residuals, bilious gastric output)
hematochezia
discoloration of skin

nonspecific signs: temp instability, apnea, lethargy, porr perfusion, hypotension

59
Q

What are the dx of necrotizing enterocolitis?

A

pneumatosis intestinalis - radiographic hallmark

60
Q

How do you treat necrotizing enterocolitis?

A

ABX and surgery

61
Q

What do you see on x-ray for necrotizing enterocolitis?

A

pneumatosis intestinals

portal venous gas

football sign/pneumoperitoneum

62
Q

What is the most common cause of neonatal sepsis?

A

Group B Streptococcus

even though we screen and tx mothers who have group B strep

E. Coli and Listeria are less common, but still seen with sepsis

63
Q

What are the mechanisms for bacteria to reach fetus?

A

maternal blood stream infections
fecal contamination of vaginal canal
bacteria in the vaginal canal

64
Q

Early vs late onset of sepsis?

A

early = 1st week of life

late = >1 week old –majority appear in first 3 months of life

65
Q

What is the clinical presentation of sepsis?

A 
respiratory distress, apnea 
fever or temperature instability (hypo-hyperthermia) 
poor feeding 
cyanosis 
neurological abnormalities
66
Q

What is the work up for pts with sepsis?

A

blood culture
urine culture
lumbar puncture
CBC

67
Q

What is the treatment for neonate sepsis?

A

empiric therapy for early onset sepsis combo against gram + (listeria, GBS) and gram negative (E. coli)

68
Q

What is the prevalence of Down Syndrome?

A

1 in 700 births

most commonly due to nondisjunction

aka trisomy 21

69
Q

What is the most common chromosomal abnormality affecting children?

A

Trisomy 21 - Down Syndrome

70
Q

What are the clinical features of down syndrome?

A 
atypical (up-slanted) palpebral fissures 
small nose with low nasal bridge 
inner epicanthal folds 
Brushfield spots (speckling of the iris) 
High arched palate 
relative macroglossia, fissures 
flat facial profile 
brachycephaly with flat occiput
short neck, excess skin at nape 
hypotonia at birth 
single palmar crease 
widely separated 1st and 2nd toes
71
Q

Which systems are commonly affected in down syndrome pts?

A 
Developmental delay 
Congenital heart disease 
Thyroid 
Ophthalmologic 
Hearing loss (both SNHS and CHS) 
Orthopedic
72
Q

What are the most common congenital heart disorders seen with trisomy 21?

A

atrio-ventricular canal defects, septal defects, tetrology of fallot

all downs syndrome pts get an Echo at birth

73
Q

Transiet Myeloproliferative Disorder

A

accumulation of immature blasts in the peripheral blood, liver, and bone marrow —-looks like leukemia

occurs in 1 out of 10 Downs syndrome pts

usually presents by 3 weeks of age

may have anemia, thrombocytopenia

tx: supportive

74
Q

What is the thyroid screening guidelines for down syndrome pts?

A

at birth
at 6 months
and then annually

75
Q

What is the diet suggestion for down syndrome pts and why?

A

low calorie and high fiber diet to prevent obesity since there is an increased risk of obesity

76
Q

There is an increased risk of leukemia in Downs syndrome pts, AML or ALL and when?

A

before age 1 AML

older children ALL

this is unusual compared to the general population

77
Q

How do pts with turner syndrome present?

A 
lymphedema resulting in swollen hands and feet 
webbed neck 
low set ears 
low hairline
broad chest with wide spaced nipples
higher incidence of hip dysplasia

often doesn’t present until later in childhood for evaluation of short stature or amenorrhea

78
Q

How do people get turner syndrome?

A

Girls with single X chromosome (45X) with absence of all or part of 2nd sex chromosome

generally NOT inherited –> caused by nondysjunction

79
Q

What is the prevalence of turner syndrome?

A

1 in 2000 to 5000 live female births

majority of 45X embryos are aborted during 1st trimester

80
Q

If you suspect Turner syndrome, what do you have to do?

A

karyotype to confirm dx

81
Q

What is the management and work up of Turner syndrome?

A

renal US to identify anomalies
Cardio
- periodic echo or cardiac MRI may be warranted

EENT

  • structural abnormalities – recurrent OM or chronic OME
  • progression to sensorineural hearing loss
  • congenital glaucoma

Endo

  • increased risk of autoimmune dzs
  • hypothyroid - Hashimotos

Estrogen can be given in early teen years to stimulate secondary sex characteristics

82
Q

Klinefelter Syndrome

A

males with sex chromosome XXY

1 in 500 male births

rarely dx before puberty

83
Q

How does Klinefelter Sydnrome present?

A

microorchidism with otherwise normal male genitalia
azoospermia (no sperm production)
gynecomastia
diminished facial hair

normal to borderline intelligence

84
Q

Which Metabolic disorders do we test for?

A

PKU, Homocystinuria, maple syrup urine disease

mitochochondria cytopathies
glycogen storage disease

lysosomal storage disorders (Tay-Sachs)

85
Q

What are the 3 main categories of Metabolic disorders?

A

Intoxication - from accumulation of toxic compounds

Energy failure - deficiency in energy production or utilization

Complex molecules

86
Q

RUSP

A

Recommended Uniform Screening Panel

newborn screening for a variety (34 conditions) of different things, a lot of which are metabolic disorders

hemoglobinopathies 
hypothyroidism 
AA disorders (PKU, etc) 
fatty chain oxidation disorders 
organic acid conditions
CF
Hearing
CHD
87
Q

What is needed to make a dx of FAS?

A

all three cardinal facial anomalies (thin upper lip, smooth philtrum, small palpebral fissures)

88
Q

Where is stretor heard loudest?

A

with stethoscope near mouth and nose

89
Q

If a child has MAS, what kind of breathing would you expect them to have?

A

Wheezing

MAS - meconium aspiration syndrome

90
Q

What causes RDS?

A

Respiratory distress in newborns
aka respiratory distress syndrome/Hyaline membrane disease

surfactant deficiency or dysfunction
pulmonary edema develops - epithelial injury in the airways, decreased sodium absorbing channels, and relative oliguria

91
Q

What are the risk factors for RDS?

A

prematurity
perinatal asphyxia
maternal DM
absence of maternal steroid administration

92
Q

How can you tell RDS from TTN?

A

RDS looks worse off and has cyanosis
and their Xrays look different
TTN - diffuse parenchymal infiltrates due to fluid in the interstitium
RDS - ground class pattern with air bronchograms and low lung volumes

93
Q

Central cyanosis presents how?

A

blueness on tip of nose and tongue

94
Q

When should you expect TORCH?

A 
neonates with:
microcephaly 
intracranail calcifications
rash
intrauterine growth restriction 
jaundice 
hepatomegally 
elevated transaminase

Pediatrics Exam 1 (6 decks)

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