Exam 1 Flashcards
Term used for features that appear abnormal
Dysmorphic features.
What is plagiocephaly?
Flat head syndrome - uncorrected torticollis can lead to this.
If the fetus has measurements that are symmetrically decreased, then it suggests a __________ versus if the head circumference is preserved and other areas are small that suggests _______
Chronic exposure (maternal smoking or drug use), congenital infection, metabolic disorder or chromosomal abnormality.
Abnormalities occurring LATER in pregnancy like uteroplacental insufficiency.
Small for gestational age is below ______ and large for gestational age is above _____
10th percentile
90th percentile
Glucose screening is recommended for these 3 types of newborns:
- Large or small for gestational age
- Born to diabetic mothers
- Late preterm (34-36 6/7)
What is the average head circumference at 40 weeks gestation?
14in (35cm) with a range of 13-15 in.
Normal HR, RR and SBP for 40wk newborn
HR 120-160
RR 40-60
SBP 60-90
What is Caput succedaneum and is it bad?
Scalp edema, pitting, not limited by suture lines and resolves w/in 48hrs. Not serious.
What is cephalohematoma, when is it more common and what is it a risk factor for?
Injury to a blood vessel in subperiostial layer. Limited by suture lines.
Forcep or vacuum deliveries.
Risk factor for jaundice and sepsis.
May worsen over 48 hours and take 3-4 months to resolve.
What is the CHARGE acronym and what is it associated with?
Coloboma of eye (gap or defect in structure of eye primarily iris), Heart defects, Choanal Atresia, Retraction of growth and/or development, Genital and/or urinary abnormalities, Ear abnormalities and deafness
T/F: dysconjugate gaze is normal in the first 2-3 months of life.
True
What is the difference between dacryostenosis and conjunctivitis?
Dacryostenosis is a blocked tear duct which causes yellow, sticky secretions to accumulate with normal conjunctiva, but conjunctivitis has red irritated conjunctiva.
Newborns with pre auricular pits or cup ears should have a renal ultrasound if:
Other malformations/dysmorphic features, teratogenic exposures, family hx of deafness or maternal history of GDM.
What is choanal atresia?
One or both of the nasal airways are narrowed or blocked.
What could the following newborn cardiovascular findings indicate?
Weak pulses
Bounding pulses
Single second heart sound
Grade 3 or higher murmur
Hepatomegaly
Weak = poor cardiac output (aortic stenosis)
Bounding = high CO (PDA)
SS - truncus arteriosus, hypoplastic left heart
Murmur - pathogenic
Hepatomeg - L HF.
T/F: the newborn first heart sound should be single and the second heart sound should be split.
True.
AD, AR and X-linked conditions are _________
Mendelian single-gene conditions
40% of pediatric genetic conditions have an unknown cause
20-25% are environmental and genetic
10-15% are chromosomal during embryogenesis
2-10% are single gene abnormalities
Types of environmental triggers for genetic anomalies
Maternal disease/sickness
Uterine/placental abnormalieties
Drug/chemicals
1/33 are born with a genetic defect, and 2-3% of genetic conditions are identified at birth. By age 7, 8-10% of children may have 1 or more malformations.
Difference between somatic and germline mutations?
Somatic - single cell - cancer
Germline - egg/sperm, passed on
What Trisomy’s are compatible with live births?
13, 18 and 21
What are the red flags that may indicate a genetic condition
Multiple family members with similar/related conditions
AD inheritance
Early age of disease onset
Occurrence of disease in less-often-affected sex
Multi-focal
Difference between penetrance and variability
Penetrance is the “visible” abnormality as a percentage
Variability is differences in disease expression
If the trait appears in every generation, and offspring have a 50% chance of being affected. M+F affected equally and M->M transmission is possible. What type of genetic condition?
Autosomal Dominant
What type of genetic conditions are “spell check” conditions such as Apert, Marfan, neurofibromatosis, waarenburg)
Autosomal Dominant
This genetic condition appears in siblings but not in parents or offspring (skipping generations), M+F equally affected. 25% chance of being passed on in consanguineous carrier parents
Autosomal Recessive.
Autosomal recessive conditions often affect _________ pathways
Enzyme
Virtually all mitochondria are supplied by the ________
Oocyte
CF, SSD, Tay-Sachs, PKU, CAH, Troyer Syndrome are examples of ______ disorders
AR
If all daughters of affected males are carriers and the condition is only expressed in males, then it is a
X-linked genetic conditons
1/3 of x-linked conditions are denovo, and 2/3 are inherited from mother.
Is it possible for a F to have an x-linked condition expressed? In what 3 situations?
Yes. If the Dad is affected an mom is carrier OR if they only have 1X (Turner’s) OR x-autosomal translocation
What are some examples of x-linked genetic disorders
Hem A+B, Duchenne and Becker MD, color blindness, G6PD
Trisomy 13 is called Patau syndrome.
Trisomy 18 is called Edward’s syndrome.
How are mitochondrial diseases inherited?
Affected F transmit to all children. Affected M cannot transmit.
What is the difference between deformation and malformation?
Deformation - mechanical force causing abnormal shape (ie club foot)
Malformation - structure defect with very early onset (ie neural tube defect)
What is a teratogen an example of? _______ what is the definition?
Disruption - structural defect interfering with originally normal development.
2vessel cord has a 7x increased risk for congenital abnormalities and especially cardiovascular.
What are some of the most common abnormalities associated with chromosomal defects?
2 phalanges, a single palm crease and dysmorphic ears.
What did public Law 110-204 do and what year was it passed in?
Newborn Screening Saves Lives Act of 2008
Amends Public Health Services act to facilitate creation of Federal guidelines
NBS Saves Lives Reauthorization (2014). Parental consent required b4 blood could be used in federally-funded research.
Read through cases at the end of Genetics PPT
NIH GeneReviews - the “google” of genetic disorders
What is the pediatric assessment triangle? (PAT)
Appearance, WOB and circulation
Some additional H+P during Peds appointment:
Who is the informant and are they reliable?
Birth (gestational age, birth weight, how long stayed in hospital) and Developmental history (missing milestones?)
Imms and prev exams
Faces pain scale
Eat, drink, pee, poo, play, sleep and activity
Home meds in safe locations esp cannabis (gummies)
ASQ/M-CHAT
Potty training - urine and stool and overnight
Comparison with parents and siblings
School performance
Social Media
What are the 3 main social determinants of health (SDOH)
Access/transportation to appointments and pick up meds
Food security
Housing security
What questions can you ask about peds diet?
Breast milk or formula? How often and how much
Vitamin supplements
Solid food - when and what
Appetites
Snacks, juice and soda.
Sacral cleft is usually a sign of issues with the thoracic spinal cord while a gluteal cleft may be a sign of tethered cord/cauda Aquina or future development of pyelenidal cysts
The Fetal circulation is ____-resistance and a _____ rate of metabolism.
low
High
The PaO2 of a fetus is 40. Are they hypoxic?
No because HgF is shifted to the L on the curve so there is more dissociation to the tissues. Sats are still 100%
What may potentially develop in late preterm infants born via C-section with NO LABOR?
Delayed Fluid Resoprtion
What needs to happen prior to birth for a GOOD first breath?
The pulmonary pressures need to DROP.
What are the 3 “holes” in the pediatric circulatory system?
Ductus venous - bypass liver and go to heart
Foramen ovale - LA -> RA
Ductus arteriosus - pulmonary arteries -> descending aorta.
After birth, the newborn needs to ______ their _____ fetal SVR and ______ their ______ fetal PVR
Increase , low
Decrease, high
CROTCHES
CMV
Rubella
Other (zika)
Toxo
Chicken pox
HIV, HSV, HBV
EBV
Syphilis
TTTS happens in monozygotic twins
What is the new term for Mongolian spots?
Dermal melanocytosis
Indirect vs direct bili
Indirect (UNconjugated) - I and U are vowels. Hgb catabolized to bilirubin which binds to albumin and goes to the liver.
Direct (Conjugated) - DC are consonants. In the liver, the UNconjugated bili is conjugated which means it becomes water soluble and go to GI tract via common bile duct and excreted in stool.
Indirect bili should peak at no more than _____ by day __ of life
12
3
8-12 breast feedings/day for first few weeks of life or 1-2 oz of formula every 2-3 hours.
A high DIRECT bili (over ___) can signify a blockage in the bile duct (biliary atresia or “pathological” jaundice)
2
MILESTONES 0-18 months!! (12-18 on Exam 1 and 0-9 on Quiz)
How many well-baby visits in the 1st year?
7
3-5 days, 2 weeks, 2, 4, 6, 9 and 12 months
When does autism screening start?
18 and 24 months
During health supervision visit is (AKA well-child exams), what are the 4 main objectives?
Disease Detection
Disease Preventino
Health Promotion
Anticipatory Guidance
6 components for each well-child visit: and what is the FIRST priority?
- History (parental concerns) and ROS
- Surveillance of Development
- Screening tests and risk assessments
- Comprehensive Physical Exam
- Immunizations
- Anticipatory Guidance
PARENTAL CONCERNS are the first priority!!
When is the peak weight loss and what is normal? When should they return to birthweight?
5th day of life
10-12%
7-10 days of life or definitely by the 2week check up.
When should vit d supplementation start for breastfed babies?
Within first days of life.
Risk factors for jaundice:
<38 weeks, maternal blood type, direct AB test (DAT) positive, cephalohematoma, significant bruising, infant of diabetic mother, East Asian race, older sibling who required phototherapy.
How do you screen for congenital heart defect and what do you do if the screening is positive?
Predictable (R hand) and post ductal (L) hand sats at 24hrs after delivery (should not be more than 3% difference). If abnormal, then do diagnostic echo
How do you screen for hyperbilirbinemia and what do you do if the screening is positive?
transcutaneous levels. If they are over 15, then obtain serum bili.
Do the Barlow maneuver first: ADduct the hip while applying downward pressure on knee.
then do Ortolani maneuver: flex knee and hips to 90* and with index finger, place anterior pressure on greater trochanters abducting with thumbs. Best to do one leg at a time.
A fever during the first 2 months of life is an emergency - go in right away!
Main components of 2 week well
Return to birth weight, repeat NBS, evaluate maternal/paternal well-being (postpartum depression) and repeat PE.
8-12 feeds/day
16-24oz/day
6-8 wet diapers/day with multiple yellow seedy stools.
Newborn RSV vaccine - administer when?
Mom at least 14 days prior to birth, OR to baby before they leave. OR Before baby reaches 5g.
What is the normal timeline for umbilical cord to fall off? Care?
10-21 days. No alcohol, keep dry, diaper folded down, no submersion until healed. If >3 weeks, consider urachal anomaly or leukocyte adhesion deficiency.
What is the test for a positive hip dysplasia screen?
Hip US
T/F: parents should pretreat or give Tylenol after vaccines
False. If pt is uncomfortable or runs a fever than you can give, but some evidence show it may decrease immune response.
If you notice torticollis - what should you do?
PT referral, neck stretches with diaper changes.
No Motrin until after ______ mo.
6 mo
4 mo feeding:
6-10x/day
Formula 30-32oz/day.