Peds Final Flashcards
Define APGAR
When/why would these be repeated
Why is this done at two different time intervals
Appearance:
0- cyanotic 1- Acrocyanosis/blue extremity 2- all pink
Pulse:
0- none 1- <100bpm 2- >100bpm
Grimace w/ nare suction:
0- none 1- grimace/cry 2- sneeze/cough/withdraw
Activity:
0- limp/none 1- some flexion 2- active
Respiration:
0- none 1- weak/slow/irregular 2- strong cry
Rpt q5min if score <8 (max of 10)
1min: tolerance of birth
5min: tolerance to life
Newborn respiratory rate
Newborn HR
What are the next steps taken for abnormal HR ranges
30-60/min w/ inc number if premature
120-160
> 100: routine care
60-99: ventilation support
<60: ventilation w/ compressions
What is the compression/ventilation ratio during NRP
How do premature/neonates respond to hypoxia
What is the positioning and rate of ventilations when using BVM
3 compression : 1 respiration
Two thumbs > two fingers
Apnea rather than tachypnea
Sniffing position (neck w/ slight extension), 40-60 bpm
What is the next step if infant’s chest fails to rise w/ BMV
When is this next step preferred
What fluids are used during NRP
Intubation
Transport
10mL/kg NS for hypo-volemia/tension
What is the next step for asystole/bradycardia unresponsive to O2
Rules for Narcan usage in newborns
? care is routine for all infants and w/ ? goal
IV Epinephrine
Only if opiates used during labor
Not if maternal addict or methadone use d/t withdrawal seizures
Nursing- prevent illness/complications w/ high level of morbidity/mortality
What are the two categories of standard nursery care and what is done during each
Which test is state mandated
A) Shortly after:
Erythromycin ointment- G/C conjunctivitis
Vit K injection- Hemorrhagic Dz of Newborn
HBV- only vaccine given at birth
B) 24hr Routine Care: Bilirubin screen Congenital heart screening Gene/Metabolic screen (AKA- newborn screen) Hearing
Genetic/Metabolic:
CF CAH PKU Sickle TSH
Congenital heart dz screening is done at 24hrs of life/before d/c and is interpreted how
Spo2 95% or higher w/ 3% or less difference between right hand/foot= negative screening, plan for d/c
SpO2 90-94% in right hand/foot or 3% difference= repeat in one hour; same results- repeat again in one hour; 3 readings in same range= echo
SpO2 <90% in right hand/foot= +screen- order Echo
Infant length is done in ? position until ? time frame and when are inaccurate measurements most likely to occur
Criteria for Low/Very Low birth weights
What are the RFs for LBW
Laying down until 2yrs old;
First week d/t positioning
Low: <2500gm; Very: <1500gm
Previous LBW baby Age <16, >35 Socioeconomic status Tobacco/ETOH/Drugs Poor weight gain during pregnancy Education No antenatal care
During newborn exam, an anterior fontanelle bigger than ? size suggests ? issue
An absence and totally closed suggests ?Dx
Define Caput Seccedaneum
Anterior suture >5cm- hypothyroid
Craniosynostosis
Boggy, edematous swelling crossing lines, self resolves
Define Cephalohematoma
? head malformation is associated w/ vacuum deliveries and how is it Tx
Define Hydrocephalus and the two types
Leads to RBC breakdown/jaundice causing swelling w/out crossing suture lines
Subgleal hemorrhage- swelling crosses suture lines, pushes ears anteriorly;
Tx: Compression w/ resuscitation PRN
Inc CSF volume;
Communicates w/ subarachnoid/Obstructed
How does Hydrocephalus present
How is this Tx
What can cause an abnormal red reflex on newborn eye exam
Bulging fontanelles
Macrocephaly
Setting sun gaze
Ventriculoperitoneal shunt
Leukocoria: cataract, tumor, retinopathy of prematurity
What optic abnormality can be normal on a newborn exam until 4mon old
What considered normal/abnormal ear positioning
Define Epstein Pearls and Bohn Nodules
Disconjugate gaze d/t failure of eyes to move in same direction
1/3 above canthus/occipital protuberance
20* from anterior of lobe to superior helix
EP: Keratin cysts on gums/palate
BN: Keratin cysts on salivary tissues
When conducting new born exams, how do neck bulge locations hint at Dx
How are lower extremity pulses assessed during newborn exam
? abdomen shape suggests diaphragmatic hernia
Anterior midline: thyroid d/o
Anterior to SCM: brachial cleft cyst
Posterior to SCM: cystic hygroma
Brachial and femoral together:
Pulse pressure >40mm= r/o PDA
LE < UE pulse= r/o coarctation
Scaphoid
What do each of the following suggest for cardiac d/o/dz
Weak pulse
Bounding pulse
Single second sound
Holosystolic, continuous, harsh
Grade 3/>
Diastolic murmur
Hempatomegaly
Weak: poor CO/AS
Bounding: high CO, PDA
Second sound: cyanotic dz- truncus/hypoplastic heart
Holosystolic, continuous, harsh- pathologic
Grade 3/>: pathologic
Diastolic: pathologic
Hempatomegaly: left sided HF
? umbilical finding suggests need for detailed exam
Umbilical cord stump remaining longer than ? needs further work up
? DDxs need to be r/o if red granuloma/stump remnants remain
Two vessels: 1 artery, 1 vein instead of normal 2A/1V but no referral needed
1mon
Umbilical polp: sticky surface
Patent Urachas: urinary d/c
Meckels: proximal end of vitelline duct
Vitelline duct: odorous d/c
Since all infants are born w/ limited laxity, what are the three concerns if this persists
RFs for Congenital Hip Dysplasia
L > R w/ risk for changes including:
Flat acetabulum
Muscle contraction limiting ROM
Capsule tightening
Female First FamHx
Oligohydramnios
Breech
Swaddling- hips adduct/extended
Define Barlow Maneuver
Define Ortolani Maneuver
If ‘clunk’ is heard, ? is the next step
Hipp adduction, forward pressure w/ thumb- can cause femoral head to slip over posterior rim of acetabulum
Flex hips to 90*, abduct hip w/ anterior push/lift of trochanter; resets joints
Hip US at 4-6wks to avoid confusion w/ normal laxity
Congenital Hip Dysplasia referred to Peds Ortho will be placed in ? device for ? age groups
? is the MC foot d/o in infants and what are they at risk for developing ? later in life
How is this MC Dx
Pavlik harness- up to 6mon old
Metatarsus adductus- medial deviation of mid and forefoot;
Developmental hip dysplasia
Mid-heel bisector- line between toes 2-3
V-finger- no gap at base of 5th MT (styloid)
How are Metatarsus Adductus cases Tx
Define Talipes Equinovarus
What part of the leg is MC affected and what does this cause
Self-resolve, if not w/in 2yrs= Ortho referral
Clubfoot- entire leg involved d/t hypoplastic tarsals and limb muscles
Talus, causes foot shortening/calf atrophy
All cases of Clubfoot need to have ? DDx assessed for
What is a common abnormal seen on fe/male GU exam of a newborn
Define Spina Bifida
Hip dysplasia
Retractile testes, Hypertrophy labias
AKA Cleft Spine: Lumbosacral hair tuft concerning for spinal cord defects
When/How is Spina Bifida normally identified during pregnancy
Define Rachischisis and ? risk needs to be r/o
What are the categories of Spina Bifida
2nd-Trimester quad screen- maternal A-fetoprotein and fetal US
Spina Bifida Occulta- hair tuft/minor defect w/out neuro S/Sxs;
r/o connecting sinus d/t inc risk for meningitis
Meningocele- meninges herniates through neural arch
Meningomyelocele- meninges and cord herniate through neural arch
Myeloschisis- open skin w/ cord exposed
What are the primitive reflexes tested for on newborn exam
What do these reflexes evaluate
When do these normally disappear
Suck Moro Grasp
Brain stem, Basal ganglia
4-6mon d/t increased cerebral inhibition of cerebral influences
Only reflex not present at birth and never disappears
What reflexes disappear at 3, 4, 6 or 12mon
Facial palsy in newborn is associated w/ ?
Parachute- appears at 8-10mon; suspended face down, move towards table causes arm extension for protection
3: Asymmetric tonic neck
4: Rooting Placing Gallant
6: Moro Grasp
12: Babinski
Forcep delivery
Define the MC brachial plexus lesion
What reflex is present/absent in this MC
Define Klumpke Palsy and what reflexes are present/absent
Erb-Duchenne/Waiter’s Tip- C5/6/phrenic nerve lesion d/t shoulder dystocia
+ grasp, - bicep
C8-T1 lesion;
- grasp +bicep w/ claw hand
What syndrome is associated w/ Klumpke Palsy if a cervical sympathetic nerve root was injured
Define Vernix Caseosa
When is term infant desquamation typically seen
Ipsilateral Horner’s Syndrome
Chalky white mixture of shed epithelials cells, sebum, keratin and hair; common in preterms for suspected fetal protection
24-48hrs of life
Define Milia
Define Milia Rubra
Define Cutis Marmorata
Smooth, white papules on face/scalp d/t trapped keratin; self limited/resolves 1-4wks
Heat rash d/t overheated/febrile infant w/ erythematous papules; Tx/correct overheating
Mottling- cold response; persistent suggests hypothyroidism/vascular malformation
Define Slate Gray Nevi
Define Cafe Au Lait macules and when are further work ups indicated
Nevus Simplexes are AKA ?
Transient dark macule on lower back/buttocks that fade w/ time
Sharply defined, pigmented macules;
6 or more/ 5cm or bigger to r/o NF-1, TB, McCune Albright Syndrome
Salmon patches
Stork bite- nape of neck
Angel kiss- forehead/eyelids
Define Nevus Flameus
? syndrome needs to be r/o depending on location
Define Erythema Toxicum Neonatorum
Port Wine Stain; d/t capillary bed malformation
Sturge Weber Syndrome if trigeminal nerve distribution
Pustules w/ erythematous base on trunk appearing 1-2 days after birth, resolves in 14days
What would be seen on microscopy slide of Erythema Toxicum Neonatorum
RFs for neonatal sepsis
Primitive reflexes are usually gone by ? age
Eosinophils
Prematurity GBS Fetal tachy Amnionitis Maternal fever PROM
4-6mon
Neonatal sepsis etiologies w/ early onsets
Neonatal sepsis etiologies w/ late onsets
Mycoplasma GBS- MC/#1 Klebsiella Listeria E coli Salmonella
Hflu Neisseria CMV HSV Enterovirus
Strep Staph
Early onset neonatal sepsis begins on ? day and presents w/ ?
Late onset neonatal sepsis begins on ? day and is more likely associated w/ ?
Fast onset of F/C/HOTN, hypotonia, respiratory distress
Insidious onset on day 8-28: Bulging fontanelle Direct hyperbilirubinemia Seizure Lethargy Fever Poor feeding/tone
What orders are needed for a neonatal sepsis work up
How are these Pts Tx
What two meds may be added after further eval/based on etiology
Glucose CXR CBC LP UA w/ culture Blood culture x 2
Draw labs, IV fluid, nutrition and:
IV Ampicillin w/ Genamicin
>3wks old: IV Ampicililn w/ Cefotaxime
Vancomycin: late onset/meningitis
Acyclovir- HSV infection
Three steps for newborn of GBS positive mother
1: infant have S/Sxs?
Yes: eval w/ empiric Tx
No: step 2
2: infant <35wks EGS?
yes; limited eval w/ 48hr observation
no: step 3
3: Two maternal ABX doses prior to delivery?
Yes: no eval/therapy, observe x48hrs
No: limited eval w/ 48hr observation
? PE finding is a sign of neonatal respiratory distress
What are 3 possible Dxs that can cause this PE finding
Respiratory Distress Syndrome is AKA ? and caused by ?
Grunting (can sound like meowing)
Dec functional residual capacity:
Pneumonia
Pulmonary edema
Peripheral airway obstruction
Hyaline Membrane Dz: dec surfactant from Type 2 pneumatocytes in <34wks EGA
RDS results in ? and looks like ? on CXR
How is RDS Tx prior to birth
How is RDS Tx after birth
End expiration atelectasis; Ground glass
Maternal steroids 32-34wks EGA
Intubation w/ surfactant/support via ET tube
What complications can arise from RDS
PDA: day 2-4 w/ L-R shunt (systemic to pulm) as pulmonary edema/hepatomegaly;
Tx: Fluid restriction w/ diuretic/NSAIDs
PTX- Sxs get chest tube
Bronchopulmonary dysplasia- caused by O2 toxicity/barotrauma
Retinopathy of prematurity- O2 toxicity vasoconstricts developing vessels= obliteration/blindness (term infant eyes fully vascularized- no risk)
What are the 3 RFs for Bronchopulmonary Dysplasia after RDS
Criteria for Apnea of Prematurity
What are the two types and causes
O2 dependence at 36wks old
RDS persists >14days
Prolong mechanical ventilation
10-20sec w/out pulmonary airflow
Central: medulla/pons don’t stimulate phrenic nerve (common in prematures)
Obstructive: malformation/positional
Apnea of Prematurity is traditionally ? type
How are Pts managed/Tx
? is the MC congenital tracheal abnormality
Central w/ peripheral component
O2, Stimulants: caffeine/theophylline
Tracheomalacia- floppy trachea worse during expiration (harsh, monophonic wheeze/normal voice/inspiration)
Four possible outcomes from Meconium Aspiration Syndrome
How are non-vigorous babies w/ aspiration managed
How does aspiration appear on CXRs
Respiratory distress
Pneumo-nia/nitis/thorax
Suction mouth/trachia
Unsuccessful: BVM w/ PPV
Coarse, irregular infiltrates predisposes Pt to pneumonia/Ptx
What causes Transient Tachypnea of the Newborn
How would this appear on CXR
When is this type of issue more commonly seen
Retained amniotic fluid causes hypoxia that resolves <24hrs
Fluid in fissures
C-section, LGA d/t no ‘squeeze’ during birth
What are the two forms of P-HTN in term infant that can cause respiratory distress
MCC of Hemolytic Dz of newborn
What are the three reasons all newborn have an elevated bili
Primary: Hypoxia w/out CV dz + normal CXR
Non-Primary: induced L to R shunt
ABO incompatibility
Inc RBC turnover
Dec hepatic clearance/gut motility
Neonatal hyperbilirubinemia is defined as ? levels
? is the MCC of neonatal jaundice
Define Kernicterus
Total Bili >5mg/dL
Hemolytic Dz of the newborn- ABO incompatability is MCC
Bilirubin Encephalopathy- indirect bili deposits in brain, disrupts neurons
Early signs of Kernicterus
Late signs of Kernicterus
MC classification of hyperbilirubinemia
Day 4 of life w/: Lethargy Emesis Hypotonia High pitch cry Irritable Poor Moro/feeding
Fever Hypertone Bulging fontanelle Opisthotonic posture Pulmonary hemorrhage Paralysis of upward gaze Seizures
Unconjugated, estimated w/ indirect level
What causes Physiological Jaundice to occur
What causes Breastfeeding Jaundice
Breastfeeding Premature Altitude >3100m doubles risk Inability to excrete/conjugate/degrade bili Race: Asian/Mediterranean
Inadequate feeds causing dec gut motility
Dec production/intake
What causes Breastfeeding Jaundice if adequate feedings are taking place
What lab result would be seen in these cases
Jaundice seen at ? point in time is always pathologic
Milk contains inhibitor of bilirubin conjugation and inc hepatic recirculation
Unconjugated hyperbilirubinemia w/out hemolysis
1st day of life
How could Pathologic Jaundice present in house
When evaluating jaundice, ? is the first location that needs to be assessed
? is first line test ordered for evaluation of neonatal jaundice
Unresponsive to phototherapy or transfusions
Under tongue THEN sclera then down towards toes
Transcutaneous then serum bili
How is Neonatal Jaundice Tx if Mild, Mod or Severe
What are the short and long term adverse effects of neonatal phototherapy
Mild: lifestyle, breast feed, sunlight
Mod: photo therapy
Sev: exchange transfusion if levels >20
Short:
Diarrhea/GI hyper-motility
Dec bonding
Temp instability
Long:
Asthma, DMT1
What is included in a standard well visit
Define Neonate
Define Infant
Define Toddler
Define Pre-Schooler
Define Child
Define Adolescent
Growth Development Imms Guidance Screenings
N: 0-28d old
I: 29d-1y/o
T: 1-3y/o
P: 2-5y/o
C: generic for 1-12y/o
13-18y/o
Define Growth and Development
Developmental Scales are AKA ? and use ? as more more detailed screening
Define Developmental Milestones
G: increase in body size
D: increase in function/process
Ages and Stages;
Denver Developmental Screening Test 2
Observable traits/actions that present/fade at predictable ages
What is the MCC of abnormal growth chart results
What are the pros/cons of developmental scales
What are the pros/cons of developmental milestones
Operator error
P: Accurate Reproducible
C: Time Tools
P: Fast Easy
C: Experience Judgement
What growth charts are used from birth-2y/o and are more accurate for ?
What growth charts are used from 2-20y/o and also account for ? three factors
How much weight loss expected during first few days of life
WHO charts; breast fed infants
CDC; Place Obesity Time
5-10% of birth weight
Time frame to return to birth weight, double and triple their weight
What is considered normal daily weight gain
By 4y/o, average child length has increased by ? much
Return by day 14
Double 4-5mon
Tripled birth weight by 12mon
20-30g x first 3-4mon
15-20g x remainder of first year
Double birth length or, 40”
Average head circumference at birth is ? and increases by ? much
Pediatric weight percentiles/categories
How are heights predicted for fe/males
35cm at birth
Inc 1cm/mon x first 12mon (2cm/mon first 3mon)
<5th: underweight
5-85th: normal
85-95th: over weight
>95th: obese
Mid-Parental Method:
M: Paternal + Maternal/2 + 2.5
W: Paternal + Maternal/2 - 2.5
2-year x 2 Method:
Height inches at 2y/o x 2
What is the most accurate method for predicting height
MC factor affecting growth
Babies born small/premature can be expected to go through ‘catch up’ growth during ? frame
Bone age w/ hand x-ray
Nature: Hereditary factors
First 6mon
When is medical interventions indicated for deficient growth patterns
Half of a child’s growth occurs during ? period of life and then declines
Nutrition/growth during ? pat of life predict adult stature and health outcomes w/ the most risk for stunted growth being at ?
<5% w/out cause
Crosses two percentile lines w/out cause
Discrepancy between Head/Weight/Length
First two years
First 3yrs;
4-24mon
It is recommended breast milk as sole nutrition source for premature infants d/t ? benefits
What can be used for Vit D/Fe supplementation for breast feeding mothers
Absolute c/is to breast feeding
6mon;
Lower readmission rates
Long term IQ development
Polyvisol
Radiopharmaceuticals
Alcohol: <0.5g/kg
Maternal infection: HIV Active TB H1N1 HSV on breast Varicella
PCP Amphetamines Cocaine
What are the three categories of formula
Cow milk based:
Fortified w/ Fe, no sterilization needed
Soy based:
Non-lactose alternative w/ possible isoflavone effect
Casein hydrolysate:
Used when absorption/digestion problem exists, $$
What is the difference between Surveillance and Screening visits
When are the standard time frames to conduct screenings
What is used for Autism screening and when is it performed
Surveillance: ongoing at any visit
Screen: formalized at prescribed times
9, 18 and 24mon
M-CHAT-R at 18 and 24mon;
>2 predictive or >3 total= further eval
How are ASQs used for infants born premature?
What are the 5 developmental areas of the ASQs
Corrected date of birth if more than 3wks premature up to 2y/o
Problem solving
Communication
Motor
Personal/Social
Milestones for 2mon
Milestones for 4mon
Milestones for 6mon
Milestones for 9mon
Milestones for 12mon
Milestones for 15mon
Milestones for 24mon
2: Shoulder lift when prone, tracks past midline, smiles and cooes
4: Rolls over, no head lag, reaches for objects, looks at hand, laugh/squeal
6: Sits alone, transfer objects, feeds self, babble
9: Pulls up, pincer grasp, bangs objects, waves/patty cake, two-syllable words
12: Walks, Stacks, Immitates,
15: walks backwards, scribbles, Spoon/Fork, 3-6word sentences
24: Stairs, washes hands, understands ‘today’
What are the red flags for Gross Motor
What are the red flags for Language
Rolling <3mon old= inc tone
Poor head control at 5mon= dec tone
Lack of sitting at 7mon= dec tone
Hand dominance <18mon= contralateral motor abnormality
Vary pitch by 4mon Lack of babble by 6mon No word/gesture by 15mon No pointing by 18mon Less than 50% intelligible speech at 24mon
All children w/ speech delay need ? tests
When do Well Child Exams take place
BP is not a standard part of VS until ? age and how is it calculated
Ear exam
Hearing eval w/ tympanometry and audiometry
Auditory Brain Stem Response- r/o peripheral loss
Day 3-5
Week 2
Mon 2 4 6 9 12 15 18 24 30, then annual
After 3y/o
SBP= 80 + Age x 2
DBP= 2/3 of SBP
How is newborn metabolic screening conducted
When are anemia screenings performed
How much lead accumulation can cause irreversible developmental/behavior abnormalities
Hgb electrophresis
12mon- healthy
4mon- high risk
5-10ug/dL; screen at 12mon
Screening questions from 6mon-6yrs
When do TB screenings begin
What groups are at high risk for TB
When does cholesterol screening begin
12mon
Close contact
Heath care workers
Foreign born
Non fasting 9-11y/o and 17-21y/o
Overweight/Obese- fasting
Parents >240= start at 2y/o
What are the accepted cholesterol limits in kids
Total:
Borderline: <170; High: >200
LDL:
Acceptable: <110
Border: 110-129
High: >130
HDL should be >40
Define Active Immunity
Define Passive Immunity
Define Primary Prophylaxis
Define Secondary Prophylaxis
Immunity from vaccine/toxoid
Maternal Ab transfer/administration of Abs
Prevent infection before first occurrence
Prevent recurrence after first infective episode
How are premature infants immunized
What is the exception to this schedule
When is DTaP given
Regardless of birth weight, same chronological age/schedule
Hep B vaccine if <2000g w/ HBsAg negative mother- give first dose at 1mon
5 doses at 2, 4, 6, 15, 48mon
One adult dose at 12
When is MCV4 Meningococcal given
When is HPV vaccine given
What are the time frames Rotavirus must be given
11-12y/o or prior to college
9-22y/o
Two doses if completed by 15y/o
First dose- 15wks old, final dose NLT 8mon
What two vaccinations have cautionary warnings d/t egg allergy
Risks of tobacco smoke
How long should rear facing car seats be used and how long should kids ride in back seat
Influenza, Yellow Fever
LBW
SIDS
Respiratory illness- asthma
Otitis media
2y/o;
Back seat until 13y/o
What is the sequence of teeth eruptsion
What labs are ordered if delayed tooth eruption is present
Epidemiology of SIDS
Deciduous: lower central incisors to upper central incisors to lateral incisors;
Permanent 6-12y/o w/ 3rd molars by 18y/o
TSH, Ca for Hypothyroid/Hypopituitary, Rickets
MCC of death 1-12mon
3rd MCC mortality in USA
Define SIDS
? technique may be beneficial in reducing/preventing SIDS
When do cases of plagiocephaly need to be referred
Unexpected death <1y/o unexplained by autopsy/CSI and review of clinical history
Pacifiers for first 12mon
No resolution x 4-6mon
What are the defining criteria for FTT
What are the three classifications of FTT
Weight <3rd percentile
Weight decreases x two major percentiles
Weight <80% of median weight for height
Type 1: Wasting; deficient weight gain d/t malnutrition
Type 2: Shunting; deficient linear growth w/ head circumference spared d/t malnutrition x months
Type 3: Symmetric; proportional loss weight, height and circumference d/t long standing malnutrition, chromosome abnormalities or infection/exposure
Majority of FTT cases are d/t ?
How is FTT Tx
Why is Refeeding Syndrome deadly
Non-organic: Ignorance Abuse Neglect
Inc calories/protein x >1.5x
Starvation forces nutrient storage for homeostasis
Rapid feeding- loss of fluid/E+; fluid retention, Hypo-Phos/Mg/K/Ca
Autosomal dominant congenital malformations
Autosomal recessive congenital malformations
X-linked congenital malformations
Huntingtons Neurofibromatosis Marfans Achondroplasia Polycystic kidney
CF CAH PKU SS
Fragile X- excessive gene base repeats Muscular dystrophy Hemophilia A Color blindness G6PD deficiency
The incidence of chromosomal abnormalities decreases w/ ?
What do all Pts w/ Downs need to have ordered
What are the three forms of Trisomy 21
Gestational age
Chromsomal analysis;
If +translocation= parental analysis
MC- maternal non-disjunction
Translocation- part of #21 is stuck on another chromosome prior to replication
Mosaicism- rarest; phenotypical normal Pt
What will be seen on PE of Down Syndrome
What are the face characteristics
What are the extremity characteristics
Generalized hypotonia- dec Moro reflex
Small head
Flat bridge d/t midface hypoplasia Up slanting fissures Macroglossia Epicanthal folds Dysplastic pinna
Single palmar crease
Shortened mid-5th phalanx
Wide first toe interspace
All Down Syndrome Pts will have ?, two-thirds have ? and half will have ?
What type of hearing loss will majority have
What eye defects will they have
All- developmental delay
2/3: polycythemia
Half- cardiac anomalies
SNHL
Cataracts Refractive error Ectopic lens Brushfield spots Strabismus
? type of cardiac anomalies are seen w/ Downs?
? GI complication/x-ray finding in Down Syndrome needs immediate surgical Tx
What is the routine health care check list for all Down Syndrome Pts
Enocardial cushion defects: ASD/VSD
Duodenal atresia; seen as “double-bubble” sign
Audio screen q3mon until 3y/o, then annual
Cards for Echo
Optho by 6mon then annual
Annual TSH/CBC, Celiac screen
? is the most preventable cause of developmental delay/intellectual disability
What are the classic facial features
What hand feature is seen
Fetal Alcohol Spectrum D/o;
3rd MCC developmental delay
Short palpebral fissures
Smooth philtrum
Thin upper lip
Clinodactyly- hockey stick crease
? type of motor dysfunction may be seen on ASQs for kids w/ FAS
How much ingestion puts fetus at risk for developing this
What developmental/Neuro problems seen win Fragile X Syndrome
Fine motor delay w/ coordination
> 7/wk or >3 drinks per period
Sterotypy (hand flap) Hyperarousal Anxiety Mood lability Epilepsy
What physical attributes will be seen in Peds w/ Fragile X Syndrome
How is this definitively Dx
What referral may be needed
Joint laxity
Oblong face
Hypotonia
Macro-orchidism
DNA amplification w/ direct analysis
SpEd Neuro (seizure) Autism Genetics
Define 45XO
Majority of defects arise from ? side
What may be seen shortly after birth if infant survives to delivery
Turner Syndrome d/t no/abnormal X
2/3 of X are maternal
Extremity edema
What type of mental development is seen w/ Turner Syndrome
What CV issues are usually seen
What endocrine d/os are seen
Poor visual-spacial skills
Superior verbal skills
Coarctation
Early onset HTN
Bicuspid aorta
Hypothyroidism
Osteoporosis
DMT1
How is Turner’s Dx
What Dx method is not recommended
How are these Pts Tx/managed
Direct karytotyping
Barr body analysis d/t high number of mosaics
Annual TSH, Chem-7, UA
Cards- Echo, MRI, EKG
Endo- GH initiation
Define Klinefelter Syndrome
What issue can present
How is this screened, Dx and what would be seen on lab results
How are these Pts Tx and what are they at risk for
47XXY: phenotypically normal prior to puberty
Result of testosterone deficiency:
Irregular features
Violent tendencies
Severe MR
Screen: Barr body
Dx: direct karytopying
Inc LH/FSH w/ low T
T replacement
16-30x inc risk for breast Ca
What type of genetic defect leads to Marfans
What three systems are affected
Crying from an infant can signal ? possible issues
Fibrillin 1 gene on Chrom #15
Ortho: arachnodactyly
CV: AV insufficiency/dissection
Ocular: dislocation
Pain Distress Fatigue Hunger
Pain > Hunger= higher pitch/intensity
What body ratios are off in Pts w/ Marfans
What is the correlation to crying if infant is preterm
When is the diurnal variation more common and how loud can it be
Reduce upper/lower body
Inc arm span
Little before 40wks old
More than term infant at corrected 6wks
Late afternoon/evening; 80dB
What findings suggest a crying infant has colic
What is the Wessel’s Rule of 3 for Colic
When does the Dx of exclusion begin to risk maternal health
Paroxysmal crying w/ grimace, leg flexion and flatus
Starting at 3wks: Crying >3hrs/day Crying 3d/wk Crying longer than 3wks Resolves around 3mon old
Inc PPD risk if crying episodes >20min
? is the MC reported behavior problem in kids 2-3y/o
When does this MC become an abnormal
How can these be prevented
Temper tantrum
Past 4y/o Injury to self/others Lasting >15min >5/day Negative mood swings w/ tantrum
Parental education at 12-18mon
What is the goal of therapy for Peds w/ special needs
What stages do parents go through after a Dx for special needs
Possible environmental RFs for Autism
Maximize potential for adult function
Kubler-Ross stages of grief
Infections- Rubella, CMV Maternal obesity Advanced parent age Premature Short pregnancy interval
What screening form is used for Autism Dx and when
Define Cerebral Palsy
What are 3 potential RFs
M-CHAT-R at 18-24mon
Two predictive- hearing concern, finger movement near eye, noise sensitivity or,
Three total
Intrauterine infection
Multiple pregnancies
Infertility Tx
Athetosis, Chorea
What are the 6 classifications of Cerebral Palsy
Mixed- catch all for Pts that don’t fit other patterns
Ataxic- cerebellar injury causing abnormal posture/coordination
Dyskinetic- involuntary, repetitive movements
Dystonic- rare; stiff/dec movements
Spastic- MAJORITY; pyramidal tract injury to upper neurons w/ two: abnormal movement, inc tone, pathologic reflexes
Choreoathetotic- hyperkinesia, hypotonia; rare now that bilirubin is Tx
How is ADHD Dx
What genetic d/os are associated w/ this condition
16y/o or :
5 Sxs of inattention or hyperactive impulsitivity
x 6mon in two environments
Fragile X
22a11.2 deletion syndrome
NF-1
What is at the core of all ADHD Tx
What meds are used first line
What SNRI can be used
What A-agonists can be used
Behavior management
Methylphenidate
Amphetamine
Atomoxetine
Clonidine, Guanfacine
? are the two behavior rating checklists for ADHD
Define Oppositional Defiant D/o
Define Conduct D/o
Conners, Vanderbilt
Moody, defiant, vindictive behavior
Pattern of behavior where basic rights/norms are violated:
Aggression Destruction Deceit Violation
What screening tool is used for OCD
What is the mnemonic for interviewing adolescent Pts
Vanderbilt
HEADDSS: Home/Friends Education Alcohol Drugs Diet Sex Suicide/Depression
Average age for female puberty is ? but preccocious puberty is defined as ?
Tanner stages associated w/ TAPuPMe
Completion of Tanner stages takes ? amount of time for male and female
11y/o;
6y/o in AfAm; 7 y/o in Caucasian
Thelarche: Tanner 2
Ad/Pub: Tanner 2
Peak: one year after thelarche, tanner 3-4
Female: 4-5yrs
Male: 2.5-5yrs
Once female starts menarche, ? much expected height growth is expected remaining
a
