PANCE Pediatrics Exam review guide, answered.

PANCE Pediatrics Exam review Test Bank Answered What does examination at birth begin with? - Observation, auscultation of heart and lungs and inspection for birth trauma/deformities How often is Apgar score assessed? - At 1, 5 and 10 minutes What does APGAR stand for? - A: Activity like muscle tone P: Pulse: G: Grimace which is reflex irritability A: Appearance which is skin color R: Respiration Apgar score of 3 indicates? - Immediate resuscitation required Apgar score of 4-7 indicates? - May require some resuscitation Apgar score of 7-10 indicates? - Normal To get 2 points in each category of Apgar, what will baby look like? - Active movement 100 bpm Sneezes, coughs, pulls away Pink all over Good respiration, crying If baby gets all 1 points in each category of Apgar, what will baby look like? - Arms and legs flexed 100 bpm Grimace Pink, except extremities Slow, irregular respirations If baby gets 0 points in each category of Apgar, what will baby look like? - No activity or muscle tone No pulse No grimace response Blue-gray, pale all over Absent respirations :( What are possible causes of a child being small for gestational age, sga? - Maternal drug use, chromosomal abnormalities, exposure to intrauterine viral infection, multiple gestation, advanced maternal age as in over 35 years, placental insufficiency, lack of maternal weight gain. What is Most commonly the cause of large for gestational age, lga? - Maternal diabetes What should be completed within 24 hours of birth? - Complete newborn examination The Newborn skin exam should evaluate for? - Color, temperature, rashes or lesions, edema, hair distribution What are 6 common skin conditions we may find on a newborn during skin exam? - 1. Erythema Toxicum 2. Milia 3. Miliaria 4. Mongolian spots 5. Nevus simplex aka stork bite 6. Vernix caseosa aka greasy covering and lanugo aka fine hairs Which skin condition is common, first appears 3-5 days after birth as small pustules on erythematous bases and spontaneously resolves in 1-2 weeks? - Erythema Toxicum Which skin condition occurs secondary to areas of surface capillary dilation and is frequently found on eyelids, nape of neck and forehead? - Nevus Simplex aka stork bite How long till Nevus Simplex will resolve? - Almost always by age 2, but some may persist into adolescence and need laser therapy Which skin condition is caused by blockage of eccrine sweat glands, resulting in a flushed macular appearance frequently involving neck, face, scalp and diaper area? - Miliaria What helps speed resolution of Miliaria, a prickly heat or heat rash phenomenon? - Light clothing and decreased humidity What skin condition is very small, white papules concentrated on nose, cheeks, forehead and chin and resolves without intervention in 1-2 months? - Milia What skin condition is more abudnant in preterm infants? - Vernix caseosa and lanugo What skin condition(s) are more likely in postterm infants? - Dry, cracked and peeling skin What skin condition is common in dark-skinned infants and involve small to large, blue-black macules concentrated on the back and buttocks; often misdiagnosed as bruising.? - Mongolian spots How long does it take to resolve mongolian spots? - Most resolve spontaneously within 4 years, although they may persist for life During head & face exam of newborn, what is craniosynostosis? - Premature fusion of one or more sutures. Referral to neurologist is necessary Which fontanelle is approximately 1-4 cm in size and closes around 10-26 months of age? - Anterior Which fontanelle is 1 cm in size and closes around 1-3 months of age? - Posterior Which fontanelle is associated with trisomy 21? - Fontanelle along the sagittal suture During head and face exam we may find Caput succedaneum which is what? - Fluid accumulation under scalp secondary to birth trauma. Can Caput Succedaneum be palpated? - Yes the swelling is palpable crossing the midline Where do hematomas frequently appear? - Within suture lines called cephalohematoma Where do subgaleal hemorrhages occur? - Beneath scalp Why are subgaleal hemorrhages serious? - Can result in enough blood loss to cause hemorrhagic shock, but luckily is rare. If odd facies beyond edema and bruising secondary to delivery persist what does this suggest? - Underlying syndrome may be going on In infant if we notice this about the ears we should be suspicious of congenital anomalies? - Rotated or low set ears Infants with pre-auricular pits should be followed for what? - Hearing loss if there is a family history of deafness What is best way to asses newborn hearing? - Auditory brain stem response or evoked otoacoustic emission testing. If infant does not have red reflex in eyes, what conditions should we be concerned about and what should we do? - Congenital cataracts, glaucoma, retinoblastomas all present as an absent red reflex. Make immediate pediatric ophthalmologist visit Describe what Brushfield spots are and what condition they are associated with? - Gray or pale yellow spots at periphery of iris Associated with down syndrome How concerning are subconjunctival hemorrhages in a neonate? - Common benign finding associated with trauma of delivery and generally resolve with time What is strabismus? - Crossing of eyes, which is almost always present during newborn period When does strabismus represent pathology? - If it is fixed or persists past 4 months of age What is best way to test for nasal patency in neonate? - Test the nares individually with cold metal object below nose to check for fogging How do we establish that there is a nasal obstruction? - Choanal atresia or stenosis may present with unilateral or bilateral obstruction and is established by inability to pass a small caliber catheter How is Choanal atresia or stenosis diagnosis confirmed? - CT What occurs due to bilateral obstruction and why? - Respiratory distress because infants are obligate nasal breathers. How does esophageal atresia present in infant? - Excessive drooling What are epstein pearls and where are they found? - Benign retention cysts that appear as small, pearly nodules along midline of hard palate What does a bifid uvula indicate? - Submucosal cleft Describe Pierre-Robin Syndrome - Small mandible and tongue Clefted soft palate What can help control respiratory difficulties caused by the tongue occluding the airway in an infant with Pierre-Robin syndrome? - Prone position What oral anomaly is associated with trisomy 21, down syndrome? - Large tongues that seem to be larger than mouth What problems might a short frenulum cause? - May present with difficulty feeding. Lactation consult is first step in evaluation of this condition What type of finding with the neck may indicate Turner's syndrome? - Webbed or redundant skin of neck If find a mass midline of neck, thyromegaly, what might this be associated with? - Congenital hypothyroidism. Requires immediate attention to prevent growth failure/cretinism What mass may be found anterior to sternocleidomatoid in neonate? - Branchial cleft fistulae Complications and treatment of branchial cleft fistulaes? - They are cysts and sinus tracts that may become infected and require antibiotic therapy. Surgery is usually done to prevent these infections from occuring. What mass may be found posterior to sternocleidomastoid? - Cystic hygroma, most common form of lymphangioma. Disfuguring. Requires surgery. What mass may be found within the sternocleidomastoid muscle? - Torticollis, hematoma Where are fractures from birth trauma commonly found? - Can be palpated in clavicles. Examine for tenderness, crepitus, bruising, or decreased ROM of one arm, usually the right. What are signs of respiratory distress in neonate? - Grunting, intercostal retractions, tachypnea: more than 60 breaths per minute and cyanosis What does unilateral decreased breath sounds indicate? - Pneumothorax or diaphragmatic hernia If there are unilateral decreased breath sounds how do we differentiate between a pneumothorax and a diaphragmatic hernia? - A mediastinal shift supports pneumothorax What are the most common causes of infant respiratory distress? - Aspiration, congenital pneumonia, transient tachypnea Are breast buds in neonate a cause for concern? - No, they are common and typically resolve by 1 month of age Are extra mammary glands, aka nipples, more common in males or females? - Males. Will extra mammary glands grow? - No. Its important to reassure them. What is average heartbeat at birth? - 140 bpm. Range of 90-190 What is average heartbeat at 1-6 months? - 130 What is average heartbeat at 7-12 months? - 116 What is average heartbeat 1-2 years? - 110 What is average heartbeat from 2-6 years? - 102 What is average heartbeat from 6-10 years? - 94 What is average heartbeat from 10-14 years? - 84 What are the most common serious presentations of heart disease in the infant? - Cyanosis, congestive heart failure, diminished peripheral pulses What signs of abdomen may be associated with renal anomalies? - Prune belly or absence of abdominal musculature What signs suggest diaphragmatic hernia? - Severely scaphoid belly plus respiratory distress What are prominent kidneys suggestive of? - Hydronephrosis or cystic kidney disease When should liver be evaluated further based on size? - When it is beyond 1 cm below the right costal margin What should we inspect the gluteal cleft for and if found what do we do? - Pits, birthmarks or tufts of hair which may represent an underlying neurotubular defect or spina bifida. If find anything, Xrays and appropriate referral How can we assess anal patency? - Lubricated thermometer or direct observation of stooling A delayed stool of over 24 hours after birth may indicate what? - Hirschsprung disease, but clarify first that they've been regularly eating Describe what hypospadias is in males - Abnormal placement of the urethra where the meatus is proximal and ventral to its normal or anterior location What is epispadias? - Dorsal displacement of urethra meatus, but this is less common than hypospadias What procedure should not be done in male infants with hypospadias? - circumcision What needs to be done if we find a male infant with hypospadias? - Bilateral renal ultrasonography to rule out ascending pathology Refer to pediatric urologist This disease presents with red papules or vesicles on the tongue, oral mucosa, hands, feet and buttocks. - Hand, foot and Mouth disease What associated symptoms occur with hand foot and mouth disease? - Fever, sore throat, and malaise but are all usually mild What is the treatment for hand, foot and mouth disease? - Supportive What is the cause of hand, foot and mouth disease? - Coxsackievirus What is typical epidemiology of those who get hand, foot and mouth disease? - Kids under 5 years How is hand, foot and mouth disease transmitted? - Nose and throat secretions like saliva, sputum or nasal mucosa, blister fluid or stool of infected person Which virus is associated with most US cases of hand, foot and mouth disease? - Coxsackievirus A 16 Which virus is associated with outbreaks of hand, foot and mouth disease? - Enterovirus 71 What is the more common name of Mucocutaneous lymph node syndrome? - Kawasaki Disease How old are most patients that get mucocutaneous lymph node syndrome or kawasaki? - under 5 years Fever for greater than 5 days and at least four of the following symptoms are needed to make the diagnosis for Kawasaki Disease... - 1. conjunctivitis 2. lip cracking and fissuring 3. strawberry tongue or inflammation of the oral mucosa 4. cervical lymphadenopathy, usually unilateral 5. polymorphous exanthem 6. redness and swelling of hands and feet with subsequent desquamation What type of symptoms can occur and are especially worrisome? - myocarditis, pericarditis, valvular heart disease, coronary artery disease and anuerysms What tests are recommended if suspect Kawasaki disease and why? - 2D Echocardiography and angiography because of possible cardiac complications How do we treat Kawasaki Disease, aka mucocutaneous lymph node syndrome? - IV Immunogloblulin and high dose aspirin If patient does have cardiovascular complications from Kawasaki Disease, what should their treatment be? - IV Immunogloblin and long term aspirin therapy with annual follow up How should patients with cardiac complications with Kawasaki Disease be monitored? - Serial electrocardiography, chest Xray, echocardiography until they have recovered Name the common viral exanthems that are difficult to differentiate - Varicella (chicken pox) Erythema Infectiosum (5th Disease, slapped cheek) Roseola Measles (rubeola) Rubella (german measles) Which viral exanthem is pruritic? - Varicella (chicken pox) Which viral exanthem is teratogenic? - Rubella (german measles) The Fever resolves before the rash with which viral exanthem? - Roseola Which viral exanthem has the shortest incubation period of 4-14 days? - Erythema Infectiosum aka 5th Disease Which viral exanthem has a prodome of fever, respiratory symptoms for 1-3 days? - Varicella (chicken pox) Which viral exanthem has a prodome of a fever for 4 days? - Roseola Which viral exanthem has a prodome of a fever, cough, anorexia, and coryza for 1-3 days? - Measles Which viral exanthem is a maculopapular rash on the face to the extremities with Koplik spots in mouth? - Measles Which viral exanthem presents as a slapped cheek red face with lacy, pink, macular rash on the torso? - Erythema infectiosum aka fifth disease Which viral exanthem looks like dew drop on a rose petal, vesicular and erythematous on the torso, face and extremities? - Varicella (chicken pox). Which viral exanthem is a maculopapular rash literally from head to toe? - Rubella Which viral exanthem is a pink, macular rash? - Roseola Human Parvovirus B19 causes which viral exanthem? - Erythema infectiousum aka Fifth Disease The human herpes virus causes what two viral exanthems? - Varicella Roseola: herpes virus 6 or 7 Measles and Rubella are caused by what? - Measles virus Rubella virus Coxsackievirus can present as either of these two diseases - Herpangina Hand foot mouth disease What do the vesicles associated with coxsackievirus herpangina look like and where are they found? - Grayish white and quickly form ulcers with erythematous halos. Lesions may be linearly arranged on palate, uvula and tonsillar pillars Why is risk of dehydration a concern for children with herpangina? - Because it causes dysphagia, fever, vomiting and anorexia How do we treat herpangina? - Supportive with fluids, anti-pyretics, topical lidocaine What is Respiratory rate at birth? - 30-60 What is Respiratory rate from 2-12 months? - 40-50 What is Respiratory rate from 1-8 years? - 20-40 What is Respiratory rate from 8-15 years? - 15-25 By what age do the testes usually descend? - 3rd month of life 80% by 9 months of age When should we refer to pediatric urologist for surgical intervention if testes have not yet descended? - If not descended by age 1 Undescended testicles are associated with what possible conditions? - Testicular cancer and infertility If child has bilateral absence of testes, what should we be suspicious of and what should we do? - Partial virilization and refer to pediatric endocrinologist This is more common in premature male infants - Inguinal hernias What test can help differentiate an inguinal hernia from hydrocele? - Transillumination of scrotal masses What is hydrocele and how many newborn males does it occur in? - Collection of fluid in scrotum due to patency of process vaginalis. 80% of newborn males How long does it take for process vaginalis to close? - Majority close within 18 months What may we find on infant girls due to maternal estrogens and how long does it take to resolve? - Vaginal leucorrhea or bloody discharge with edematous labia 7-10 days, but may be longer in breast fed infant What treatment can we try for vaginal adhesions, aka fused introitus? - Estrogen or beclomethasone cream for 5-10 days. if no resolution refer to ped urologist How frequently does developmental hip dislocation occur? - 1 in 500 infants and more in breech deliveries How does the Barlow maneuver test for hip dislocation? - Adduct the fully flexed hips while pushing the thighs posteriorly. If during this, the femoral head is felt to dislocate or leave the acetabulum, it is considered a positive barlow maneuver. How does the Ortolani maneuver test for hip dislocation? - Grab medial aspect of flexed knee with thumb and fully abduct the hips. Feel for spasm or a clunk (not a click sound) as the hips are brought to full abduction. What further testing is recommended if we get a Positive Ortolani or Barlow Maneuver? - Bilateral ultrasonography of hips and referral to pediatric orthopedic surgeon to prevent lifelong disability Do hip Ultrasound or referral to ped ortho if hip click persists for how long? - More than 1 month Why do we inspect lateral borders of hands and feet? - Looking for skin tags suggesting polydactylism which if found should raise suspicion for other malformations What is Talipes equinovarus? - Club foot. Fixed severe eversion of plantar surface Need immediate ortho referral What may represent spina bifida occulta or tethered spinal cord? - Tufts of hair or hemangiomas that cross the midline as well as deep sinus tracts in the gluteal cleft What are the two earliest neurological reflexes? - Instinctively sucking when offered a nipple or examiner's finger Rooting: when stroke face, they turn head toward stimulus until 4 months of age. What reflex causes the infant to flail their arms and legs out and then back in if we drop their head suddenly? - Moro reflex. Feel like they're falling. When does the Moro reflex disappear? - 3-4 months of age What is the grasping reflex and when does it disappear? - When place our finger in infant's palm or sole, should elicit the palmar or plantar grasp What is traction response? - Pull infant by arms to sitting position, observe the head lag initially, then coming briefly to midline before falling forward What is the placing reflex? - Dangle infant above bed, allowing toe to have minimal contact with surface and the extremity will respond with flexion or a stepping response Are deep tendon reflexes brisk or decreased in infants? - Brisk, clonus may even be noted Is a Babinski, upgoing plantar, normal in infants? - Yes and may be noted as late as 2 years of age Name 3 common problems of term newborn - 1. Hypoglycemia 2. Neonatal jaundice 3. Respiratory distress How is hypoglycemia defined in a newborn? - Blood glucose level of 40-45 mg/dL Which infants are at high risk for hypoglycemia? - Those born from diabetic mothers Those who are intrauterine growth restricted If infant is hypoglycemic, what might their symptoms be? - Poor feeding, lethargy, jitteriness, tremulousness, irritability, apnea or seizures or asymptomatic How are glucose readings taken in an infant? - Heel blood and bedside glucometer readings are adequate for screening What is normal infant glucose level? - 50-80 mg/dL at 3 hours of age. If get a bedside glucose reading of less than 40 what should we do? - Confirm the abnormal results with a whole blood test What is treatment for infant with hypoglycemia? - Bolus of dextrose and water, D10W, and IV glucose as needed. Feeding the infant is an option as well When does infant hypoglycemia tend to resolve by? - 5th day of life Literature supports transcutaneous bilirubin screening in all infants before what age to determine need for further testing? - Before 24 hours of age, so before leave hospital. What % of infants have a bilirubin level greater than 5 mg/dL in the first week of life? - 65% What are Most common causes of unconjugated hyperbilirubinemia? - 1. Physiologic jaundice 2. Prematurity 3. Breast feeding jaundice What is treatment for physiologic jaundice? - Phototherapy when bilirubin is greater than 15 mg/dL or not descending. Sitting in sunlight What is treatment for breast feeding jaundice? - Supplement breast milk with formula. Feed or pump breast milk every 2 hours until adequate supply is established. Phototherapy when bilirubin is greater than 15 mg/dL What are the two categories of common etiologies of neonatal jaundice? - Overproduction of bilirubin Decreased rate of conjugation How does overproduction of bilirubin occur in newborn? - Either from hemolysis secondary to blood group sensitizations such as Coombs test positive incompatibilities such as Rh and ABO. Or from hereditary spherocytosis or glucose 6 phosphate dehydrogenase, G6PD deficiency, Coombs test negative. Or Sepsis and nonhemolytic anemia (extravascular hemorrhage) are other possible causes. Reticulocyte counts are elevated. What causes a decreased rate of conjugation with normal reticulocyte in newborn? - Physiologic jaundice and uncommonly from Gilbert or Crigler-Najjar syndrome. What is Kernicterus? - Form of encephalopathy (brain damage) caused by excessive bilirubin Where does Jaundice begin on the body of newborn? - Starts at the head and moves down. When jaundice starts to go away, it begins to receed from feet up to head How do we distinguish jaundice in a dark skinned infant? - Sclerla icterus and jaundiced oral mucosa If newborn has jaundice from hereditary spherocytosis, what might we also find on exam? - Splenomegaly What lab tests should we do on mom? - Prenatal maternal blood type, Rh, antibody testing If mom's blood type is O or Rh negative, what should we check on infant? - Infant's blood type What other labs should be done on newborn? - Direct and indirect bilirubin, CBC, reticulocyte count, and blood smear What are possible causes of conjugated hyperbilirubinemmia? A direct bilirubin of greater than 2 mg/dL and greater than 10% of total? - Biliary obstruction, atresia Choledochal cyst Hyperalimentation Alpha 1 anti-trypsin deficiency Hepatitis, sepsis and red blood cell abnormalities When is transfusion necessary for infant jaundice? - When the cause is ABO incompatibility, Rh isoimmunization, or nonimmune hemolysis (Coombs test negative) How do we treat respiratory distress in newborn? - O2 stat with close pulse ox monitoring, IV fluids, intubation if true failure is present, determine underlying cause and treat In a child who is showing developmental delays what is important to differentiate? - Whether this has been ongoing, or development has slowed or regressed recently. Important because the causes and treatments are different Developmental milestones for 0-2 months? - Gross motor: turns head side to side Fine motor: clenched fist, eye contact Personal/social: recognizes human face Language: Cries, startles at loud noise Developmental milestones for 2-3 months? - Gross motor: lifts head Fine motor: Tracks object past midline, hands open Personal/social: smiles responsively Language: vocalizes in play Developmental milestones for 4-5 months? - Gross motor: Head steady in supported position Fine motor: Hands together Personal/social: shows displeasure through vocalization Language: Looks for source of sound Developmental milestones for 6-8 months? - Gross Motor: Rolls over, sits leaning forward on arms Fine Motor: Reaches for objects, raking grasp Personal/social: Responds to own name, holds own bottle Language: Imitates speech sounds, vocal imitation Developmental milestones for 9-11 months? - Gross motor: Stands while holding on Fine motor: Passes object from hand to hand Personal/social: Feeds self, imitates waving Language: Understands no, may say mama Developmental milestones for 12-14 months? - Gross motor: stands alone for 2 seconds Fine motor: Bangs 2 objects together, places pellet in bottle Personal/social: Hugs dolls or stuffed animals, Routinely gestures to meet neds Language: Uses 1 or 2 words with meaning Developmental milestones for 15-17 months? - Gross motor: Stoops and recovers, walks well Fine motor: Builds tower of 2 or 3 cubes Personal/social: Attempts use of spoon Language: Waves bye-bye, Uses 4-5 words Developmental milestones for 18-21 months? - Gross Motor: Runs well, kicks large ball, walks backward. Fine motor: Scribbles, Turns pages of book Personal/social: Drinks well from a cup, feeds self, uses a spoon Language: Follows simple commands (give me), 20-50 words Developmental milestones for 24 months? - Gross Motor: Throws ball overhead, jumps Fine Motor: Turns doorknobs, Builds tower of 6-7 blocks Personal/Social: Washes and dries hands, little spilling during self-feeding Language: 2-3 words combined, points to body parts Developmental milestones for 36 months? - Gross motor: Stands on one foot at least 2 seconds Fine motor: Copies circle Personal/Social: Takes turns, toilet trained Language: Uses pronouns (I, me, you), gives names Developmental milestones for 48 months? - Gross motor: Hops on one foot Fine motor: Wiggles thumb, copies a cross Personal/social: Dresses self Language: Knows colors, asks questions Developmental milestones for 5 years? - Gross motor: Skips alternating feet Fine motor: Holds a pencil correctly Personal/social: Brushes teeth without help Language: Easily carries on a conversation, may count or recite part of alphabet Developmental milestones for 6 years(grade 1)? - Hand-Eye Coordination: Draws more precisely Calculation/Reading: Reads one syllable words, counts to 20, later reads simple sentence, adds and subtracts primary numbers Language: Speaks using correct sentence structure Developmental milestones for 7 years (grade 2)? - Hand-Eye Coordination: Legible printing, ties own shoe laces Calculation/Reading: Reads 2 syllable words, Counts to 100, Adds & subtracts 2 digit numbers Language: Defines words, compares &c contrasts, speech reaches adult proficiency Developmental milestones for 8 years (grade 3)? - Hand-Eye Coordination: Begins to learn cursive writing Calculation/Reading: Reads more 2 syllable words, Performs simple multiplication Language: Defines more words, recites days of week Developmental milestones for 9 years (grade 4)? - Hand-Eye Coordination: Draws people with detail Calculation/Reading: Reads 3-4 syllable words, alphabetizes, does simple division, comprehends fractions Language: Comprehends absurdities in sentences Developmental milestones for 10 years (grade 5)? - Hand-Eye Coordination: Draws people with great detail Calculation/reading: Able to read complex words, easily uses addition, subtraction, fractions, division, multiplication Tanner Stage 2 for Ages 11-12 in males and age 11 in females - Males: straight hair at base of penis. Females: minimal, straight pubic hair Tanner Stage 3 for Age 13 in males and age 12 in females - Males: coarse, dark, and curly pubic hair Females: increased pubic hair that is dark and coarse Tanner Stage 4 for Age 14-15 in males and age 13 in females - Males: hair is almost completely full Females: hair approaches normal adult appearance Tanner Stage 5 for Age 16-17 in males and age 14-15 in females - Males: Pubic hair achieves adult appearance Females: pubic hair reaches adult appearance and forms inverted triangle What is most common neurodevelopmental disorder? - Attention deficit hyperactivity disorder ADHD What is the most severe neurodevelopmental disorder? - Mental retardation What is most common cause of speech or language delay? - conductive hearing loss secondary to chronic middle ear effusion How might language delay present? - Omitted sounds, difficulty pronouncing certain letters, dysfluency or failure to have appropriate language skills by age 2-3 Define mental retardation - IQ of less than 70 with disturbances in adaptive behavior What may be found on physical exam of a child with mental retardation? - Abnormal muscle tone is seen at 6 months, motor delay is apparent by 1 year, all aspects of development are affected by 2 years of age What type of labs and tests should we do to rule out medical causes of mental retardation? - CBC to rule out anemia, lead screen, chromosomal studies, metabolic studies, TSH, EEG, MRI Who should we refer children with mental retardation to for additional medical help? - Special programs for social, occupational, and cognitive support What are the two forms of spina bifida? - Aperta Occulta What is another name for Spina Bifida? - Myelomeningocele Which form of spina bifida is when the neural tube defect involves the overlying skin? - Aperta How does Occulta spina bifida present? - Hairy tufts, dimples or dermal sinus noted in lumbosacral region What are the risk factors for spina bifida? - Folic acid deficiency during pregnancy Maternal use of Valproate What are characteristic neurological findings of spina bifida? - Hypotonia, sensory deficits, paralysis, hydrocephalus, macrocephaly What are characteristic findings of the extremities of newborns with spina bifida? - Contractures, tethered cord, which may cause back pain, clubfeet, scoliosis, or hip dislocations What are characteristic findings of Genitourinary system in children with spina bifida? - Urosepsis, incontinence What is the treatment for hydrocephalus from spina bifida? - Prompt intervention with shunting and referral for supportive services How does ADHD present? - Hyperactivity and impulsiveness or inattentiveness What are secondary symptoms of ADHD? - emotional immaturity and lability, poor social skills, sometimes motor incoordination. Disruptive behavior may result in peer rejection and deflated self-image. At home these children often do not comply with parents' requests and can become explosive and irritable. Who is ADHD more frequent in boys or girls? - 5x more common in boys Which child in the family is ADHD most common in? - The first born male What % of children with ADHD are affected into adulthood? - 50% What causes ADHD? - Multifactorial: prenatal exposure to infections and toxins, prenatal complications, familial or genetic factors, psychosocial factors, neurochemical dysregulation What scales are ADHD diagnosis based on? - Parent and teacher Connor Scales What are the diagnostic criteria for ADHD? - 1. The symptoms of hyperactivity, impulsivity, or inattentiveness must have been present before age 7. 2. Symptoms must occur in at least 2 settings like home AND school 3. At least 6 symptoms of inattention, hyperactivity or both are developmentally inappropriate and present for at least 6 months What are the symptoms of ADHD Inattention? - -Makes careless mistakes and has trouble attending to details -Problems in sustaining attention; does not appear attentive when directly addressed -Does not follow through or complete assigned work -Forgetful -Easily distracted from activities by other things going on at the same time -Loses items critical to accomplishing assigned activities -Avoids activities requiring sustained mental effort -Has difficulty in organizing tasks What are the symptoms of ADHD Hyperactivity and impulsivity? - -Fidgets or squirms -Leaves seat often -restlessness -Difficulty playing quietly -Talking excessively -Blurting out -Difficulty awaiting turn -Interrupts or intrudes on others In general what is treatment for ADHD? - CNS stimulants and behavioral therapy Between what ages do remissions occur? - Between 12 and 20 years of age What drugs are the first line treatments for ADHD? - Methylphenidate aka Concerta, Ritalin Dexmethylphenidate aka Focalin Amphetamine, Dextroamphetamine aka Adderall What are side effects of the stimulant drugs for ADHD that we need to monitor? - Growth retardation and weight loss Which SNRI drug that is a nonstimulant and NOT a controlled substance has been approved for treatment of ADHD? - Atomoxetine What is the centrally acting anti-hypertensive drug that has been approved for treatment of ADHD? - Guanfacine Which anti-depressants drugs ares used as adjuncts for treatment of ADHD? - Bupropion, Venlafaxine, Clonidine, Imipramine What are the non-pharm treatments for ADHD? - Behavior modification, educational and classroom management, family therapy, group therapy for social skills and self-esteem Impaired social interaction, impaired communication, repetitive stereotyped patterns of behavior and activities characterize what disorder? - Autistic disorder Impaired social interaction, restricted or stereotyped behavior, interests or activities characterizes what disorder? - Asperger disorder Decreasing head circumference per height and weight advances, and loss of previously learned behaviors, social interactions, and motor and language development which is almost exclusively seen in girls is what disorder? - Rett disorder This disorder involves multiple motor and 1 or more vocal tics several times per day for greater than 1 year duration with an onset before 18 years of age - Tourette disorder What is most common age group to develop Tourette's? - 3-8 years of age Does Tourette's run in families and what disorder is it co-morbid with? - Yes familial and comorbid with OCD If tourettes onset is after a group A streptococcal infection what is it called? - PANDAS: pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections. This disorder is chronic impairment of muscle tone, strength, coordination, or movements. - Cerebral palsy How does cerebral palsy occur? - Cerebral injury before birth, during delivery or in perinatal period How does cerebral palsy present? - Varies greatly. spasticity, lack of coordination, fine motor difficulties, ataxia, lethargy, hypotonia, dystonia. In addition to motor function and muscle impairment what other symptoms might someone with cerebral palsy have? - Seizure disorder, mental retardation, speech, hearing, vision or sensory perception disorders What might we find on physical exam of patient with cerebral palsy? - Hyperreflexia, hypotonia, microcephaly, limb length discrepancies, cataracts, retinopathy, congenital heart defects What type of diagnostic testing is done when suspect cerebral palsy and why? - To rule out other neurologic disorders, MRI, immunoglobulin G & M, urine organic acid, blood amino acids, glucose, lactate, pyruvate, and ammonia concentrations are done. What is the treatment for cerebral palsy? - Supportive and trying to maintain as maximum function via occupational, physical and speech therapy. Pharmacological for seizures and spasticity is also required. What Common Inborn Errors of Metabolism do all states screen infants for? - Phenylketonuria Congenital adrenal hyperplasia Galactosemia Hypothyroidism. What is occurrence of Phenylketonuria? - 1 in 12,000 live births Moderate to severe mental retardation, hyperactivity, seizures, autism and hypopigmentation are s/s or what common inborn error of metabolism? - Phenylketonuria How do we test for phenylketonuria? - After 24 hours of protein intake, then quantitative serum phenylalanine determination What is the treatment for phenylketonuria? - Lifetime of low protein diet; avoid products wiht phenylalanine What is phenylketonuria? - Unable to break down the amino acid phenlylalanine because they do not make the necessary enzyme to break it down called phenylalanine hydroxylase. Why does phenylketonuria cause hypopigmentation? - Because phenylalanine protein plays a role in body's melanin A virilized female, males with ambiguous genitalia and infants presenting early in life with salt wasting, adrenal crisis are s/s of what common inborn error of metabolism? - Congenital Adrenal Hyperplasia What is the occurrence of congenital adrenal hyperplasia? - 1 in 5000 live births What is the test for congenital adrenal hyperplasia? - 17 Hydroxyprogesterone levels will be high What is congenital adrenal hyperplasia? - These people lack the enzyme the adrenal glands need to make the hormones cortisol and aldosterone and the body produces more androgen What is the treatment for congenital adrenal hyperplasia? - Corticosteroid replacement Lethargy, mental retardation, eczema, failure to thrive; rarely goiter, thick tongue; up to 75% of newborns are asymptomatic during the first 2 months of life with this common inborn error of metabolism - Hypothyroidism What is the occurrence of hypothyroidism in live births? - 1 in 4500 What tests are done for hypothyroidism? - Serial TSH, free T4 What is the treatment for hypothyroidism? - Replacement therapy with L-thyroxine Neonatal nausea and vomiting, jaundice, hepatic dysfunction and liver enlargement, mental retardation, cataracts and death are s/s of what common inborn error of metabolism? - Galactosemia What is the occurrence of galactosemia? - 1 in 60,000 live births What is galactosemia? - Body is unable to use the sugar galactose What test is used to detect galactosemia? - Galactose 1 phosphate uridyltransferase electrophoresis after galactose intake What is the treatment for galactosemia? - Lactose and galactose free diet Chromosomal abnormalities are found in how many? - 1 in 200 live births and approximately 7% of spontaneously aborted conceptuses What are structural types of chromosomal anomalies? - deletions, duplications, translocations, inversions What are numeric types of chromosomal anomalies? - Triploidy and tetraploidy (both lethal), trisomy, monosomy, aneuploidy of sex chromosomes and mosaicism What type of initial evaluations should be done if chromosomal anomalies are suspected? - Karyotype and fluorescent in situ hybridization (FISH) What are BAC-CGH arrays? - Bacterial artificial chromosome-comparative genomic hybridization for evaluation of chromosome anomalies What is the more common name for the disorder Trisomy 21? - Down syndrome What is incidence of Down syndrome? - 1 in 750 live births What is Down syndrome cause associated with? - Advanced maternal age If 6 of the following are present, what diagnosis is made? Hypotonia, poor moro reflex, hypermobility of joints, flattened facies and occiput, excess skin on the posterior neck, anomalous auricles, upward-slanting palpebral fissures, pelvic dysplasia, dysplasia of the middle phalanx of the fifth finger, and a single transverse palmar crease aka simian crease - Down syndrome Macrosomia (large birth weight), mental retardation, hearing loss, brushfield spots in the eyes, thyroid disease, gastrointestinal atresia, and atlantoaxial instability are associated with this chromosomal abnormality - Down Syndrome, Trisomy 21 Congenital heart disease is present in what % of those with down syndrome? - 40% What is the Most common type of heart defect in those with down syndrome? - Atrioventricular septal defects These characteristics are common with what chromosomal abnormality? Initially tall, thin and long limbed to become obese as adult. Scoliosis, ataxia, expressive language disorders, mild developmental delay, males have small penis, hypogonadism, scant pubic and facial hair and gynecomastia and females have eunuchoid habitus - Klinefelter syndrome XXY What is the incidence of Klinefelter syndrome? - 1 in 800 live births This chromosomal abnormality presents as short stature, web neck, prominent ears and low posterior hairline, broad chest with widely spaced nipples, congenital lymphedema - Turner syndrome, Monosomy X What is incidence of Turner syndrome? - 1 in 2000 live births Who does Tuner syndrome occur in, males or females? - Females only What other symptoms are associated with turner syndrome? - hearing impairment, visual and spatial perceptive disabilities, primary amenorrhea, ovarian dysgenesis, absence of secondary sex characteristics, coarctation of aorta, horseshoe kidney, aortic stenosis. These characteristics are found in what chromosomal abnormality? Pale blue irides, long narrowed facies, large protruding ears, large protruding jaw, flat feet and hyperextensible fingers, prepubertal large gonads, autism and/or moderate to severe mental retardation with disorganized speech patterns, mitral vavle prolapse - Fragile X syndrome What is the incidence of Fragile X syndrome? - 1 in 1250 live births Does Fragile X syndrome occur in males or females? - Males mainly These characteristics are found in what chromosomal abnormality? LGA, hypoglycemia during infancy, creases and pits in earlobes, asymmetric limbs, organomegaly and large tongue - Beckwith-Wiedemann syndrome What chromsome is Beckwith-Wiedemann syndrome associated with? - Chromosome 11p15 What are patients with Beckwith-Wiedemann syndrome at risk for developing? - Wilms tumor and hepatoblastoma These characteristics are associated with what chromosomal abnormality? SGA, hypogonadism, small hands and feet, almond shaped eyes, hypotonia, mental retardation, short stature, polyphagia, obesity. - Prader-Willi syndrome What chromosome is affected in Prader-Willi syndrome? - Chromosome 15q11 What is incidence of Prader-Willi syndrome? - 1 in 25,000 live births What are common complications of Prader-Willi Syndrome? - Diabetes and Pickwickian syndrome What is Pickwickian Syndrome? - Severely obese fail to breathe rapidly or deeply enough and frequently have sleep apnea. Weight loss helps Characteristics of this chromosomal abnormality are severe mental retardation, marked developemental delay, poor language skills, paroxysmal laughter, tongue thrusting, prognathism, seizures, abnormal gait and posturing - Angelman Syndrome What Chromosome is Angelman syndrome associated with? - Chromosome 15 What is the primary defect of Ehlers Danlos Syndrome? - Defect involves collagen, resulting in joint laxity, hyperelastic skin, pectus deformity and excessive bruising What is common cause of death in patients with Ehlers Danlos Syndrome? - Ruptured aneurysm. Is Ehlers Danlos syndrome autosomal recessive or dominant? - Autosomal dominant and has 10 syndromes or clinical types What is primary defect of Marfan Syndrome? - Defect involves connective tissue protein, resulting in tall, lanky structure, joint laxity, high arched palate, long digits and myopia What are complications of marfan syndrome? - Mitral valve prolapse, aortic root dilation, aortic insufficiency, aneurysms, spontaneous pneumothorax Is Marfan syndrome autosomal recessive or dominant? - Autosomal Dominant mutation How do children with fetal alcohol syndrome present? - Born small and may remain small. Microcephaly, long and smooth philtrum, thin upper lip, small palpebral fissures, small distal phalanges What are complications of fetal alcohol syndrome? - Developmental delay, hyperactivity, moderate retardation, involvement of internal organs such as congenital heart disease, cleft lip or palate, renal anomalies What may protect against neural tube defects? - Folic acid supplementation during pregnancy If we find a cleft lip or palate is this likely an isolated finding? - No, look for other malformations This autosomal dominant defect involves Type I collagen resulting in bone fragility and pathologic fractures... - Osteogenesis Imperfecti What are other characteristics particular to osteogenesis Imperfecti? - Blue tinted sclera and deafness What is definition of failure to thrive? - Child 2 years of less with their weight below fifth percentile for age on more than one occasion or whose weight crosses 2 major percentiles downward on a standardized growth grid What are exceptions to this definition of failure to thrive? - Genetic short stature, SGA, preterm infants, Asian infants, overweight infants with decreased rate of weight gain and increased rate of height gain What % of infants and children does failure to thrive affect? - 10% What are most common causes of failure to thrive? - Environmental or behavioral factors What organic causes may cause failure to thrive? - Reflux, renal tubular acidosis, acute or chronic infections What initial labs should be done for failure to thrive? - CBC with differential, ESR, U/A and C&S, Serum electrolytes, BUN, Creatinine, TSH, T4, Tuberculin skin test, Radiography of wrists for bone age How much should feedings be increased in children with failure to thrive? - 100-150 kcal/kg/day When does familial short stature present? - Before 2nd year of life How does familial short stature present? - Deceleration in height How to determine approximate expected height of a child? - If it's a boy: mom's height plus 5 inches plus dad's height, then divide by 2. If its a girl: dad's height minus 5 inches plus mom's height divided by 2. What is constitutional growth delay? - Late bloomers, family history of delayed growth Will radiography of radius show equal bone age to chronological age? - No, bone age will be less What might cause growth hormone deficiency? - Idiopathic, congenital such as empty sella syndrome or acquired like craniopharyngioma When does growth failure due to growth hormone deficiency occur? - Either during infancy or later in childhood What is Laron syndrome? - Dwarfism from mutation in GH receptor What would we find on physical exam of child with growth hormone deficiency? - decline in growth velocity, truncal obesity because GH also promotes lipolysis, impaired peripheral vision with optic chiasm tumors if frequent, delayed puberty and webbed neck, disproportionately short limbs compared to trunk suggest a skeletal dysplasia. If all other causes have been ruled out, what is the treatment for growth hormone deficiency? - Human growth hormone can be given for syndromes such as Prader-Willi, Turner syndrome, SGA and chronic renal failure Who should we refer kids with growth hormone deficiency to? - Pediatric endocrinologist What are possible internal causes of nutritional deficiencies? - Blood loss, malabsorption, chronic disease What are possible external causes of nutritional deficiencies? - Inappropriate feeding, psychosocial distress, inability to take in sufficient nutrition What is perfect source of infant nutrition and why? - Breast milk because it contains perfect mix of nutritents as well as protein, lipids and carbs. Promotes bonding, and strengthens infants immune system How long should an infant's diet consist of breast milk or formula? - Up to 6 months of age When can cereal be introduced to infant? - 4 months When can fruit and veggies be introduced to infant? - Fruit at 5 months and veggies at 6 months When can protein such as meat be introduced to infant? - After 6 months Why should fish, peanut butter, egg whites and citrus not be introduced until infant is one year of age? - Because earlier initiation of these foods increases risk of developing food allergies When should Cow's milk be introduced? - After 1 year of age Child presents with impaired growth velocity, obesity. A severe form of this is called marasmus. What type of nutritonal disorder? - Carbohydrate deficiency What are the risk factors for developing carbohydrate deficiency? - Diarrhea, malabsorption, improper diet Why are carbs required in daily supply? - Carbs are required because of body's limited ability to store excess galactosemia Excess intake of carbs results in what? - Obesity, increased risk of T2DM What labs are helpful in determining carb disorders? - Chem panel for electrolyte imbalances and CBC Child presents with hemorrhagic purpura involving skin, internal organs, and CNS which may be fatal. What nutritional disorder may be going on? - Vitamin K defiency What does Vitamin K do? - Aids in formulation of coagulation proteins What are risk factors for Vitamin K deficiency? - Newborns, breast fed newborns who do not receive vitamin K prophylactically at birth What labs assist in determining Vitamin K deficiency? - Vitamin K levels, Prolonged prothrombin time What is treatment for Vitamin K deficiency? - IM vitamin K injection Child presents with Increased number of dental caries or could present with undermineralization and discolored teeth. What type of nutritional disorder is going on? - Fluoride deficiency or excess What is role of fluoride? - It is incorporated into tooth matrix, increasing resistance to dental caries. It is contained in most public water sources When should we consider supplementing fluoride in children? - After 6 months of age when water source does not contain fluoride. Child presents with impaired growth velocity with severest form being kwashiorkor resulting in lethargy, irritability, impaired growth velocity, edema, and hepatomegaly. What type of nutritional disorder is this? - Protein deficiency What are risk factors for developing protein deficiency? - Severe skin disease, burns, cystic fibrosis What labs can assist in determining protein deficiency? - Chem panel which may suggest decreased albumin, CBC Child presents asymptomatic when this is mild, pallor, fatigue, impaired cognitive and motor development and Pica when moderate to severe; what type of nutritional disorder is this? - Iron deficiency What are the risk factors for iron deficiency? - Breast fed infants, untreated maternal anemia, prematurity, blood loss during the neonatal period What type of labs can assist in determining iron deficiency? - CBC with differential, Serum ferritin, serum iron, total iron-binding capacity, reticulocyte count What is the treatment for iron deficiency? - High Iron content food, supplementation, for breast fed infants: iron fortified cereals at 4-6 months All vaccines except which one are given to premies the same as term newborns? - Hepatitis B vaccine. It is recommended for premature infants weighing 2 kg or more What are the 4 contraindications to vaccines? - 1. Anaphylactic reaction to previous vaccine or component of vx 2. History of encephalopathy within 7 days of giving diphtheria, tetanus, and pertussis (DTaP) vaccine 3. Pregnancy avoid live vaccines such as MMR, Varicella and live attenuated influenza vaccine 4. Avoid MMR and varicella vaccine if immunocompromised What are the common preservatives in MMR vaccine and IPV, inactivated Polio virus, vaccine that have caused allergic reactions and anaphylaxis? - Neomycin and streptomycin If someone has a bakers yeast allergy, which vaccine should be avoided? - Hepatitis B vaccine If someone has an egg allergy, which vaccine should be avoided? - Influenza vaccine If someone has gelatin allergy, which vaccine should be avoided? - Varicella vaccine If someone has moderate to severe illness and or fever of greater than 102.5, should we still give vaccine? - No, consider rescheduling How long should the MMR and Varicella vaccines be postponed after administration of immunoglobulin? - 3-6 months What disorder is a contraindication to tetanus, diphtheria, pertussis, Tdap or DTap, vaccine? - Chronic seizure disorder What reactions to the DTaP or DTP would make us carefully consider readministration of these vaccines? - High fever (104.5), shock-like state, seizure, prolonged and inconsolable crying or Guillain-Barre syndrome Which vaccines should pregnant women avoid? - HPV, influenza, MMR, varicella, polio vaccines What condition would make us consider postponing MMR vaccine? - Current or recent history of thrombocytopenic purpura If someone has a family member who is immunocompromised and they are given this vaccine, they need to avoid that family member - Varicella vaccine Is breastfeeding or personal or family history of seizures a reason to postpone vaccines? - No, just DTap or TDAP if have chronic seizure disorder What is Thimerosal? - A mercury based preservative Do multi-dose vials of injectable influenza or single dose preparations contain thimerosal? - Multi-dose vials of injectable influenza Is it true that studies have proven that thimerosal or vaccines, especially MMR, cause Autism? - No not true Each year what % of poisonings occur in children younger than 5 years? - 85% What are the likely substances that kids ingest that are poisonous? - Analgesics, household cleaning products, iron, hydrocarbons, medications, pesticides, vitamins, plants Teen ingestions are how much more fatal than accidental ingestions by small children? - 15 fold more fatal What is the primary source of lead exposure in the US? - Lead based paint which has been banned since 1970s When is universal screening of lead recommended? - At ages 1 and 2 for all children. What levels of lead require close monitoring of developmental and cognitive development, identification of source of lead, and removal of child from exposure - Levels higher than 14 ug/dL At what level of lead do severe health problems, seizure and coma occur? - Levels higher than 70 ug/dL What info is very important to gather when assessing an ingestion of poison? - What, when, how much and how long ago Offending substance should be brought to ER if possible Inventories of household products, medications should be conducted History will reveal the substance in what % of cases? - 90% What type of unusual breath odors should we be looking for? - Arsenic and organophosphates produce garlic breath What might we find on skin of a poison ingestion? - Excessive dryness, sweating, discoloration, and fever Anticholinergics cause what type of skin reaction? - Warm dry skin Organic phosphate poisonings cause what? - Salivation and urination If a child has ingested a poison what should we note in regard to their eyes? - Pupillary size and lacrimation What neurologic changes are often encountered in child who's ingested poison? - Ataxia, agitation, tremors, convulsions, coma What cardiac symptoms are often encountered in child who's ingested poison? - Tachycardia, tachypnea, dysrhythmias Which type of psych med in particular causes prolonged QRS? - TCA anti-depressants Does ETOH cause an anion gap or a osmolar gap? - Anion gap Does Methanol cause an anion gap or a osmolar gap? - Osmolar gap What should be performed continuously while evaluating a kid with poison ingestion? - electrocardiography What labs should be done with case of poison ingestion? - Toxicology screen, electrolyte panel for the anion and osmolar gaps, chem panel to determine if there's been liver or kidney damage, specific tox screens for diuretics, ethylene glycol, lithium, aromatic hydrocarbons and cyanide. What is first focus for management of poison ingestions? - Airway, breathing and circulation What is first line treatment for most ingested poisons? - Activated charcoal to promote GI decontamination Is induced vomiting or gastric lavage recommended for poison ingestion? - No What substances may accelerate elimination of toxins? - Sorbitol and other cathartics (med that accelerates defecation) To find out if there is an antidote for specific ingestion who do we call? - Poison control! What is key finding of an Acetaminophen overdose? - Hepatotoxicity What tests should be used for suspected acetaminophen OD? - Monitor APAP plasma concentration use the specific nomogram