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

Lecture 2 - Neonate Medicine and Genetic Syndromes Flashcards

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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
PPHN
Persistent Pulmonary Hypertension of the Newborn
26
What is the upper limit of normal for RR in infants?
60
27
What are the risk factors of TTN?
prematurity (because you don't have those last few months where the airway reverses) delivery by cesarean section (particularly without preceding labor)
28
How does TTN present?
tachypnea and increased work of breathing | persists 24 - 72 hours
29
How do you treat TTN?
may require supplemental oxygen CPAP may be necessary to drive fluid into circulation Course is self-limited and dies not usually require mechanical ventilation
30
How do you prevent TTN?
avoiding elective caesarean section before onset of labor in infants <39 weeks gestation
31
What happens to the lungs (alveolar cells) in the last few months of gestation?
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
32
Respiratory Distress Syndrome
aka Hyaline Membrane disease caused by surfactant deficiency or dysfunction pulmonary edema develops
33
What are the risk factors of Respiratory Distress Syndrome?
Prematurity Perinatal asphyxia Maternal diabetes Absence of maternal steroid administration
34
What are the XRay findings for TTN?
diffuse parenchymal infiltrates due to fluid in the interstitium fluid in the interlobar fissure occasionally pleural effusions
35
What are the clinical presentations for Respiratory Distress Syndrome?
presents within 1st hours of life, often immediately after delivery respiratory distress cyanosis self-limited -- typically improves in 3 - 4 days
36
What is the treatment for respiratory distress syndrome?
supportive mild cases may respond to CPAP more severe require mechanical ventilation diuresis no clear guidelines regarding when to administer exogenous surfactant
37
What is the prevention of RDS?
reduce pre-term births; provide antenatal steroids
38
What does the Xray of a RDS pt look like?
ground glass pattern with air bronchograms and low lug volumes also might be called reticulogranular
39
How does meconium affect infant lungs?
inactivates surfactant, | obstructs distal air passages causing hyperinflation and atelectasis
40
MAS
Meconium aspiration syndrome occurs when fetus passes meconium before birth --meconium stained amniotic fluid
41
What is the incidence of MAS?
0.4% - 1.8% seen in infant >37 weeks gestation fewer than 10% exposed to meconium develop MAS
42
How do pts with MAS present?
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
What is the treatment of MAS?
O2 CPAP or mechanical ventilation in severe cases exogenous surfactant commonly given
44
What do you see on Xray for MAS?
diffuse, fluffy infiltrates
45
Persistent Pulmonary HTN
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
PPHN clinical presentation
respiratory distress cyanosis within hours of birth get ECHO to r/o structural heart disease, determine direction of shunting, and assess ventricular function
47
PPHN treatment
mechanical ventilation, cardiotonic therapy, inhale NO, ECMO
48
Apnea of prematurity
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
What is the treatment for apnea of prematurity?
CPAP | Methylxathine (Theophylline and caffeine)
50
Congenital Diaphragmatic Hernia
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
What side is most commonly affected with congenital diaphragmatic hernia?
80-85% on the LEFT side
52
How is congenital diaphragmatic hernia dx?
typically by US prenatally
53
What is the treatment for congenital diaphragmatic hernia?
``` mechanical ventilation, treatment of pulmonary HTN, evaluation of cardiac performance, consideration of ECMO, surgical repair ```
54
TORCH
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
What are the cyanotic lesions?
``` Terrible T's Truncus Arterosus Transposition of great vessels Tricuspid atresia Tetralogy of Fallot Total anomalous pulmonary venous return ```
56
How do heart disorders effect infants and what should we as providers do?
child is at risk for developmental delay get: neurodevelopmental screen immunizations regular follow up with cardio
57
Necrotizing Enterocolitis
acute inflammatory necrosis of the bowel primarily affect PREMATURE infants - K. Pneumonia - E. Coli - Clostridia - Coag neg staph - Rotavirus
58
What are the clinical manifestations of necrotizing enterocolitis?
abdominal distention, feeding intolerance (emesis, increased residuals, bilious gastric output) hematochezia discoloration of skin nonspecific signs: temp instability, apnea, lethargy, porr perfusion, hypotension
59
What are the dx of necrotizing enterocolitis?
pneumatosis intestinalis - radiographic hallmark
60
How do you treat necrotizing enterocolitis?
ABX and surgery
61
What do you see on x-ray for necrotizing enterocolitis?
pneumatosis intestinals portal venous gas football sign/pneumoperitoneum
62
What is the most common cause of neonatal sepsis?
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
What are the mechanisms for bacteria to reach fetus?
maternal blood stream infections fecal contamination of vaginal canal bacteria in the vaginal canal
64
Early vs late onset of sepsis?
early = 1st week of life late = >1 week old --majority appear in first 3 months of life
65
What is the clinical presentation of sepsis?
``` respiratory distress, apnea fever or temperature instability (hypo-hyperthermia) poor feeding cyanosis neurological abnormalities ```
66
What is the work up for pts with sepsis?
blood culture urine culture lumbar puncture CBC
67
What is the treatment for neonate sepsis?
empiric therapy for early onset sepsis combo against gram + (listeria, GBS) and gram negative (E. coli)
68
What is the prevalence of Down Syndrome?
1 in 700 births most commonly due to nondisjunction aka trisomy 21
69
What is the most common chromosomal abnormality affecting children?
Trisomy 21 - Down Syndrome
70
What are the clinical features of down syndrome?
``` 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
Which systems are commonly affected in down syndrome pts?
``` Developmental delay Congenital heart disease Thyroid Ophthalmologic Hearing loss (both SNHS and CHS) Orthopedic ```
72
What are the most common congenital heart disorders seen with trisomy 21?
atrio-ventricular canal defects, septal defects, tetrology of fallot all downs syndrome pts get an Echo at birth
73
Transiet Myeloproliferative Disorder
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
What is the thyroid screening guidelines for down syndrome pts?
at birth at 6 months and then annually
75
What is the diet suggestion for down syndrome pts and why?
low calorie and high fiber diet to prevent obesity since there is an increased risk of obesity
76
There is an increased risk of leukemia in Downs syndrome pts, AML or ALL and when?
before age 1 AML older children ALL this is unusual compared to the general population
77
How do pts with turner syndrome present?
``` 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
How do people get turner syndrome?
Girls with single X chromosome (45X) with absence of all or part of 2nd sex chromosome generally NOT inherited --> caused by nondysjunction
79
What is the prevalence of turner syndrome?
1 in 2000 to 5000 live female births majority of 45X embryos are aborted during 1st trimester
80
If you suspect Turner syndrome, what do you have to do?
karyotype to confirm dx
81
What is the management and work up of Turner syndrome?
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
Klinefelter Syndrome
males with sex chromosome XXY 1 in 500 male births rarely dx before puberty
83
How does Klinefelter Sydnrome present?
microorchidism with otherwise normal male genitalia azoospermia (no sperm production) gynecomastia diminished facial hair normal to borderline intelligence
84
Which Metabolic disorders do we test for?
PKU, Homocystinuria, maple syrup urine disease mitochochondria cytopathies glycogen storage disease lysosomal storage disorders (Tay-Sachs)
85
What are the 3 main categories of Metabolic disorders?
Intoxication - from accumulation of toxic compounds Energy failure - deficiency in energy production or utilization Complex molecules
86
RUSP
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
What is needed to make a dx of FAS?
all three cardinal facial anomalies (thin upper lip, smooth philtrum, small palpebral fissures)
88
Where is stretor heard loudest?
with stethoscope near mouth and nose
89
If a child has MAS, what kind of breathing would you expect them to have?
Wheezing MAS - meconium aspiration syndrome
90
What causes RDS?
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
What are the risk factors for RDS?
prematurity perinatal asphyxia maternal DM absence of maternal steroid administration
92
How can you tell RDS from TTN?
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
Central cyanosis presents how?
blueness on tip of nose and tongue
94
When should you expect TORCH?
``` neonates with: microcephaly intracranail calcifications rash intrauterine growth restriction jaundice hepatomegally elevated transaminase ```

Pediatrics Exam 1 (6 decks)

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