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Peds Final Flashcards

1
Q

Define APGAR

When/why would these be repeated

Why is this done at two different time intervals

A

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

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2
Q

Newborn respiratory rate

Newborn HR

What are the next steps taken for abnormal HR ranges

A

30-60/min w/ inc number if premature

120-160

> 100: routine care
60-99: ventilation support
<60: ventilation w/ compressions

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3
Q

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

A

3 compression : 1 respiration
Two thumbs > two fingers

Apnea rather than tachypnea

Sniffing position (neck w/ slight extension), 40-60 bpm

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4
Q

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

A

Intubation

Transport

10mL/kg NS for hypo-volemia/tension

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5
Q

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

A

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

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6
Q

What are the two categories of standard nursery care and what is done during each

Which test is state mandated

A

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

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7
Q

Congenital heart dz screening is done at 24hrs of life/before d/c and is interpreted how

A

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

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8
Q

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

A

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
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9
Q

During newborn exam, an anterior fontanelle bigger than ? size suggests ? issue

An absence and totally closed suggests ?Dx

Define Caput Seccedaneum

A

Anterior suture >5cm- hypothyroid

Craniosynostosis

Boggy, edematous swelling crossing lines, self resolves

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10
Q

Define Cephalohematoma

? head malformation is associated w/ vacuum deliveries and how is it Tx

Define Hydrocephalus and the two types

A

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

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11
Q

How does Hydrocephalus present

How is this Tx

What can cause an abnormal red reflex on newborn eye exam

A

Bulging fontanelles
Macrocephaly
Setting sun gaze

Ventriculoperitoneal shunt

Leukocoria: cataract, tumor, retinopathy of prematurity

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12
Q

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

A

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

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13
Q

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

A

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

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14
Q

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

A

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

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15
Q

? 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

A

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

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16
Q

Since all infants are born w/ limited laxity, what are the three concerns if this persists

RFs for Congenital Hip Dysplasia

A

L > R w/ risk for changes including:
Flat acetabulum
Muscle contraction limiting ROM
Capsule tightening

Female First FamHx
Oligohydramnios
Breech
Swaddling- hips adduct/extended

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17
Q

Define Barlow Maneuver

Define Ortolani Maneuver

If ‘clunk’ is heard, ? is the next step

A

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

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18
Q

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

A

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)

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19
Q

How are Metatarsus Adductus cases Tx

Define Talipes Equinovarus

What part of the leg is MC affected and what does this cause

A

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

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20
Q

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

A

Hip dysplasia

Retractile testes, Hypertrophy labias

AKA Cleft Spine: Lumbosacral hair tuft concerning for spinal cord defects

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21
Q

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

A

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

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22
Q

What are the primitive reflexes tested for on newborn exam

What do these reflexes evaluate

When do these normally disappear

A

Suck Moro Grasp

Brain stem, Basal ganglia

4-6mon d/t increased cerebral inhibition of cerebral influences

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23
Q

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/ ?

A

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

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24
Q

Define the MC brachial plexus lesion

What reflex is present/absent in this MC

Define Klumpke Palsy and what reflexes are present/absent

A

Erb-Duchenne/Waiter’s Tip- C5/6/phrenic nerve lesion d/t shoulder dystocia

+ grasp, - bicep

C8-T1 lesion;
- grasp +bicep w/ claw hand

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25
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
26
# 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
27
# 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
28
# 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
29
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
30
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
31
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 ```
32
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
33
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
34
? 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
35
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
36
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)
37
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
38
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)
39
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
40
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
41
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
42
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
43
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
44
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
45
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
46
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
47
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
48
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
49
# 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
50
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
51
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
52
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"
53
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
54
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
55
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
56
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
57
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, $$
58
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
59
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
60
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'
61
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 ```
62
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
63
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
64
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
65
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
66
# 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
67
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
68
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
69
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
70
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
71
# 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
72
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
73
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
74
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 ```
75
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
76
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
77
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 ```
78
? 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
79
? 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
80
? 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
81
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
82
# 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
83
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
84
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
85
# 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
86
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
87
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
88
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
89
? 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
90
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 ```
91
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
92
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
93
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
94
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
95
? 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
96
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 ```
97
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
98
Once female starts menarche, ? much expected height growth is expected remaining
a

IPAP (212 decks)

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