Developmental Milestones PDF

Developmental Milestones Jason Ryan, MD, MPH Developmental Milestones Motor, language, and social skills for various ages Developmental delay = failure to reach milestones Reversible causes: Hearing loss Lead poisoning Often occurs with dysmorphic features Facial, limb and other abnormalities Down s...

Developmental Milestones Jason Ryan, MD, MPH Developmental Milestones Motor, language, and social skills for various ages Developmental delay = failure to reach milestones Reversible causes: Hearing loss Lead poisoning Often occurs with dysmorphic features Facial, limb and other abnormalities Down syndrome Fragile X (long face, large ears, large testes) Developmental Milestones Gross motor Fine motor Language Social Emotional Self-help Cognitive Developmental Milestones Gross Motor Goal first year: walk Newborn babies lie face down Motor development proceeds from top down Head before legs Time Milestone 2 months Lift head 4 months Roll over 6 months Sit up 9 months Crawl/pull up/stand 12 months Walk Piqsels Developmental Milestones Fine Motor Goal first year: pincer grasp and throw objects Newborns: hands in fists Time Milestone 2 months Open hands/hands together 4 months Grasps rattle 6 months Transfer objects 9 months Three-finger/clumsy grasp Bangs two cubes 12 months Pincer grasp Throws objects Flikr/Public Domain/Beth Nazario Developmental Milestones Language/Communication Requires hearing Goal first year: say ONE word with meaning - “mama” and “dada” Time Milestone 2 months Coos 4 months Laughs 6 months Babbles 9 months Says “mamamama” and “bababababa” 12 months “Mama” and “Dada” Developmental Milestones Social Time Skill 2 months Begins to smile at people 4 months Smiles spontaneously 6 months Recognizes faces Stranger anxiety 9 months Waves bye-bye Separation anxiety 12 months Points Stranger and Separation Anxiety Stranger anxiety Baby becomes upset when unfamiliar person approaches them Occurs around six months Separation anxiety Baby becomes upset when separated from parents Occurs by nine months Requires object permanence Object permanence Baby knows objects exist when out of sight Occurs by nine months Developmental Milestones 2-year-old Run and climb two steps Two-word phrases Two-step commands “Give me the ball and then get your shoes.” Stacks 6 blocks 50- to 200-word vocabulary Copy a line 2 3 4 5 Developmental Milestones 3-year-old Ride a tricycle Three-word sentences 300+ word vocabulary Copy a circle Wikipedia/Public Domain 2 3 4 5 Developmental Milestones 4-year-old Hop Copy a cross Tells detailed stories 2 3 4 5 Shutterstock Developmental Milestones 5-year-old Skip Copy a triangle 2 3 4 5 Shutterstock Language Age 2: 50% understandable Age 3: 75% understandable Age 4: 100% understandable Shutterstock Developmental Delay Global developmental delay Failure to meet milestones in ≥ 2 of major domains Gross motor, fine motor, language, cognition, or social Large differential diagnosis: CNS, metabolic, other Hearing loss Can present as speech, language, or social delay Pxhere.com Red Flags Age Features 6 Months No smile, grasp, or roll; poor head control 12 Months Unable to pick up objects; no crawling; no standing; no babbling 2 Years Less than 50-word vocabulary; difficulty holding small objects; Can’t climb stairs; not feeding or dressing themselves Rett Syndrome Neurodevelopmental disorder of females Contrast with autism: 4x more common in males Initially normal development Slow symptom onset 1-2 years of age Hallmark: regression of cognitive/motor skills Diagnostic criteria for disorder Pixabay/Public Domain Rett Syndrome Deceleration of head growth Loss of motor, intellectual, speech abilities Loss of balance (ataxia) Repetitive hand movements Hand-to-mouth licking Grabbing of clothing or hair Hand wringing Pixabay/Public Domain Rett Syndrome Genetics X-linked disorder X-linked dominant: 1 abnormal gene → disease 99% cases: sporadic gene mutation Girls Two X chromosomes Random X inactivation → some cells with normal gene Males One X chromosome: all abnormal genes Lethal Developmental Delay Select Causes Autism Selective Mutism Hearing Loss Motor Normal Normal Normal Language Impaired Impaired Impaired Behavior Stereotyped patterns of behavior Won’t speak in specific situations Does not react to sounds Primitive Reflexes Present at birth Resolve as corticospinal neurons become myelinated Can return in adults with neurologic damage Reflex Description Disappears by Hand Grip Grasp object placed in palm 3M Sucking Suck when roof of mouth touched 4M Moro Extend arms when startled 4M Rooting Turn head toward side of cheek stimulus 6M Galant Stroke spine on side, baby swings torso toward touch 9M Plantar Dorsiflexion of foot and extension of toes with plantar stimulation 12M Pediatric Screening Jason Ryan, MD, MPH Pediatric Screening American Academy of Pediatrics (AAP) guidelines Bright Futures Pediatric Screening Pediatrics Screening AAP recommendations for screening based on age/condition More frequent in children with special risk factors Example: hearing loss in children with recurrent otitis media with effusion Screening Select Screening Measures Iron deficiency Autism Hearing Vision Lead poisoning Oral health Tobacco, alcohol, substance use (9 years and older) Depression (ages 12 to 21 years) Poverty Iron Deficiency Up to 9% toddlers have iron deficiency in US Commonly caused by insufficient dietary intake Babies have increased iron demand due to growth Reduced risk with iron-fortified formula Breast milk has some iron PickPic/Public Domain Iron Deficiency AAP guidelines: screening at ~1 year of age Usual screening: measurement of CBC Measures hemoglobin, MCV, RDW Iron deficiency: low hemoglobin, MCV; Increased RDW Repeated screening if risk factors present Prematurity or low birth weight (risk of anemia of prematurity) High consumption of cow’s milk Low consumption of iron-containing foods Iron Deficiency Iron Supplementation Use iron-fortified formula For breastfed infants Add iron supplement at four months Continue until baby eating iron-rich foods Avoid cow’s milk until 12 months of age Public Domain Autism Screening at 18 and 24 months Modified Checklist for Autism in Toddlers, Revised with Follow-Up MCT-RF Two-stage assessment First stage: 20-item parent questionnaire Second stage: Follow-up questionnaire administered by health care professional Score from 0 – 20 (higher = higher risk) Hearing Loss Can cause speech, language, and cognitive delays Screening at birth (congenital causes) Screening in older children (acquired causes) Often conductive hearing loss Middle ear dysfunction (otitis, fluid) AAP: screening age 4 and up Office screening tools: Tone audiology Tympanometry Abnormal screen: audiology referral Pxhere.com Lead Poisoning Exposure from dust from lead paint Can lead to neurocognitive impairment Children usually asymptomatic Fingerstick level age 1 to 2 years If elevated: blood lead level Treatment: remove sources of lead exposure Lead Paint Public Domain Vision Loss Screening begins ~ age 3 Also examine eyes for strabismus Misalignment of eyes Common in children Can cause vision problems Potentially treatable Public Domain Public Domain Hyperlipidemia Once ages 9 to 11 Again ages 17-21 None 12 to 16 (puberty) Public Domain Drug and Alcohol Use Annual screening starting at age 11 Commonly done with CRAFFT screen CRAFFT Screening Substance Use Screen for Children Car – Have you ever ridden in a car driven by someone who has been using alcohol or drugs? Relax – Do you ever use alcohol or drugs to relax? Alone – Do you ever use alcohol or drugs while alone? Forget – Do you ever forget things you did while using alcohol or drugs? Friends – Do your family or friends ever tell you that you should cut down on your drinking or drug use? Trouble – Have you ever gotten into trouble while you were using alcohol or drugs? Score >2 = high risk adverse outcomes Depression Annual screening starting at age 12 Patient Health Questionnaire-2 item screen (PHQ-2) Any of the following over the past two weeks: Little interest or pleasure in doing things Feeling down, depressed, or hopeless Public Domain Adolescent Medicine Jason Ryan, MD, MPH Puberty Thelarche: development of breasts Estradiol action on breast tissue Menarche: first menstrual period Spermarche: first sperm production Often followed by nocturnal emission Pubarche: development of pubic hair Primarily due to androgens from adrenal gland Dtesh71/Public Domain Puberty Age of Onset Girls start puberty 8 to 13 years Menarche: 12 to 13 years Boys start puberty 10 to 15 years First ejaculations: 13 to 14 years Pubertal growth spurt Girls: 12 years Boys: 14 years PXfuel Puberty Tanner Stages Assigns stage number to pubertal development Range from stages I to V Separate stages for: Male genitalia Female breasts Pubic hair Stage I: prepubertal Stage V: adult sexual characteristics Usually occurs by age 15 Tanner Stages Males Public Domain Tanner Stages Females Public Domain Precocious puberty Occurs at early age, usually less than 8-9 years old Excess androgens (boys) or estrogens (girls) Boys: congenital adrenal hyperplasia Wikipedia /Public Domain Delayed puberty No evidence of puberty by age 12-14 years Most common cause: constitutional delay of growth and puberty Transient defect in GnRH release from hypothalamus Often familial Underproduction of androgens or estrogens from hypogonadism: Turner (girls) Klinefelter (boys) Kallman syndrome (GnRH deficiency, anosmia) Adolescent Screening HEADSSS interview instrument Home Education Activities Drugs Sex Suicide Safety Drug and Alcohol Use Annual screening starting at age 11 Commonly done with CRAFFT screen CRAFFT Screening Substance Use Screen for Children Car – Have you ever ridden in a car driven by someone who has been using alcohol or drugs? Relax – Do you ever use alcohol or drugs to relax? Alone – Do you ever use alcohol or drugs while alone? Forget – Do you ever forget things you did while using alcohol or drugs? Friends – Do your family or friends ever tell you that you should cut down on your drinking or drug use? Trouble – Have you ever gotten into trouble while you were using alcohol or drugs? Score >2 = high risk adverse outcomes Confidentiality Critical to providing care to adolescents Exceptions: Sexual or physical abuse Suicidal or homicidal thoughts Minors and Consent for Care Minor: usually defined as person under 18 years of age Only parent or legal guardian may give consent Exceptions Emergencies Emancipated minors Special situations Flikr/Public Domain Minors Emergency Care Consent not required (implied) Care administered even if parent not present Care can be administered against parents’ wishes Classic example: Parents are Jehovah's Witnesses Physician may administer blood products to child Do not need court order Pixabay/Public Domain Emancipated Minor Minors can attain “legal adulthood” before 18 Common criteria: Marriage Military service Living separately from parents, managing own affairs Emancipated minors may give consent Minors Special Situations Most U.S. states allow minors to consent for certain interventions May be done without parental consent Contraceptives Prenatal Care Treatment for STDs Treatment for substance abuse Ceridwen/Wikipedia Abortion Rules on parental notification vary by state Some states require parental notification Some states allow consent with counseling Wikipedia/Public Domain General Pediatrics Jason Ryan, MD, MPH Anticipatory Guidance Given by provider to parents Varies by child’s age Expected growth and development Safety reminders Informs parents of child’s needs Avoids health problems in children Component of the AAP Bright Futures guidelines Normal Growth Usually occurs in a predictable course Influenced by nutrition, health Key metrics monitored by pediatricians: Weight Height Head circumference (until 2 years) Compared to norms for age group Often reported as percentile (10th, 50th, 99th) Growth Charts Height, Weight, Head Circumference Newborn Weight Full term babies lose weight after birth Up to 10 percent of birth weight Occurs in first few days of life Usually regained by 10 to 14 days Infants double birth weight by four months Triple birth weight by one year Children gain ~4 to 5 lbs/yr from 2 to puberty Piqsels Linear Growth Non-linear with spurts and slowing Average length at birth: 20 inches Increases 50% by 1 year Grow about 2 to 4 inches per year from 1 to 10 years Children reach half adult height by 24 to 30 months Normal deceleration of height velocity before puberty Followed by growth spurt at puberty Shutterstock Linear Growth Most common causes of short stature after age two: Constitutional growth delay (most common) Familial (genetic) short stature Both variants of normal Constitutional delay of growth and puberty (CDGP) Late adolescent growth spurt Delayed puberty Adult height often normal Shutterstock Bone Age X-ray of left hand and wrist Bone age determined from population norms Used in children with abnormal growth Bone age less than chronologic age Seen in constitutional delay of growth and puberty Child should eventually grow Bone age identical to chronologic age Seen in familial short stature Setzner1337 Head Growth Reflects growth of brain Small head: microcephaly Occipitofrontal circumference < 2SD below age mean Large head: macrocephaly Occipitofrontal circumference > 2SD above age mean Shutterstock Microcephaly Selected Causes Many, many causes of microcephaly Occurs with dysmorphism in genetic disorders Abnormal facial, limb features Down syndrome (trisomy 21) Angelman syndrome (imprinted gene disorder) Williams syndrome (deletion on chromosome 7) Congenital Acquired TORCH Infections Teratogens (ETOH) Trisomy 13, 18, 21 Meningitis Ischemic brain injury Metabolic disorders (hypothyroid) Macrocephaly Selected Causes Increased brain size (often familial and present at birth) Hydrocephalus Hemorrhage Mass lesions Key test: ultrasound For infants with open fontanelles Noninvasive Can identify ventricular enlargement Other tests: head CT or MRI Freestockphoto.com Failure to Thrive Poor growth No formal definition Fall off weight curve first then height then head Organic causes Chronic medical illness Non-organic causes No underlying medical disorder Malnutrition Poor caregiver support Treatment: interdisciplinary care, high calorie feedings Wikipedia/Public Domain Pediatric Dehydration Severity Symptoms Mild (3-5%) Sticky or slightly dry oral mucosa Increased thirst Normal vitals Normal/slightly decreased urine output Moderate (6-9%) Dry oral mucosa Increased thirst, irritable Sunken eyes/fontanelle, reduced skin turgor Tachycardia, tachypnea, possible hypotension Decreased urine output Severe (>10%) Very dry oral mucosa Lethargy, coma Sunken eyes/fontanelle, reduced skin turgor Cool skin, acrocyanosis Tachycardia, tachypnea, hypotension Anuria Fluid Replacement Mild to moderate dehydration: oral fluids Moderate to severe: intravenous fluids 20mL/kg bolus of isotonic fluids Repeat as needed Diet Breastfeeding recommended Can feed on demand Feeds should occur every 2 to 4 hours 8 to 12 feeds per day Start iron-fortified cereals ~ 6 months Baby must be able to sit, hold head up Whole milk may be consumed ~12 months Avoid juices, sweets PxFuel.com Bowel Movements First bowel movement usually within 36 hours of birth Ninety percent newborns pass meconium within 24 hours First week: about 4 stools per day First three months: 2 to 3 stools/day Breastfed infants have more stools/day on average By two years : mean number of bowel movements under two per day After four years : mean number of bowel movements ~ one per day Urine First week: # wet diapers = age in days After first week: > 4 wet diapers per day Can start toilet training 18 months Most toddlers trained by 3 to 4 years Wikipedia/Public Domain Sleeping Newborns sleep 3 to 4 hours at a time for about 18 to 20 hours/day Sleep through the night by 6 months (usually) 1 to 2 naps/day normal up to 4 years of age As child gets older: less overall sleep, longer sleep duration PickPic Car Seats Age < 2 years: rear-facing car seat in back Age 2 – 4 years: forward-facing car seat in back Age 4 – 8 years: booster seat in back until 4’9” tall Older children < 12 years: back seat belt Air bags (front seat) dangerous for < 12 years Wikipedia/Public Domain Injuries Leading cause of death Often predictable and preventable Car injuries: car seats and seat belts Firearms (guns) Gun avoidance (most effective means of prevention) Safe handling and storage of firearms Bicycle Injuries Usually head injuries Prevention with bicycle helmets Wikipedia/Public Domain SIDS Sudden Infant Death Syndrome Sudden death of infant < 1 year of age Unexplained by other causes Risk factors Stomach sleeping Maternal smoking during/after pregnancy Very young maternal age (< 20) Bed sharing (infant/parent) Pixabay.com SIDS Prevention Smoking avoidance Sleeping prone or on side Firm sleep surface No extra blankets or pillows No bed sharing Pixabay/Public Domain BRUE Brief Resolved Unexplained Event Sudden, brief episode of: Cyanosis or pallor Absent, decreased, or irregular breathing Marked change in tone (hyper- or hypotonia) Altered level of responsiveness Parents often concerned for SIDS No known association between low-risk BRUE SIDS BRUE Brief Resolved Unexplained Event Evaluation: history and physical exam Low risk features Age > 60 days Born at gestational age ≥32 weeks Only 1 BRUE (no prior BRUE or clusters) Duration of BRUE < 1 minute No CPR required No concerning historical features or physical examination findings If all low-risk features: reassurance No further testing indicated Remind parents of standard SIDS prevention Ear Infections and Fever Jason Ryan, MD, MPH Otitis Media Acute infection of the middle ear Usually preceded by viral upper respiratory tract infection Inflammatory edema obstructs Eustachian tube drainage Upper respiratory tract bacteria enter middle ear Microbial growth occurs Image courtesy of Harshita Yadav Otitis Media Microbiology S. pneumoniae H. influenzae (non-typeable) Moraxella catarrhalis Strep pneumoniae Otitis Media Clinical Features Most common complaint: ear pain Fever in up to two-thirds of cases Hearing loss Ear drainage Shutterstock Otitis Media Diagnosis Clinical diagnosis Middle ear effusion PLUS signs of middle ear inflammation Tympanic membrane erythema, fever, ear pain If signs of inflammation are absent diagnosis is OME Bulging of the tympanic membrane Most specific sign of acute inflammation Michael Hawke MD/Wikipedia Otitis Media Treatment Indications All adults Children under 2 years old Children over 2 years old with certain features Toxic appearance Temperature > 102.2°F More than 48 hours of ear pain Healthy children over 2 years old with mild symptoms may be observed Otitis Media Treatment First-line therapy: amoxicillin Amoxicillin-clavulanate in special cases History of recurrent AOM Recent treatment with a beta-lactam antibiotic Covers H. influenza resistant to amoxicillin Surgical therapy in recurrent cases Myringotomy Tympanostomy Tube Surgical incision of tympanic membrane Prevents negative pressure in Eustachian tube Allows drainage of fluid Allow topical antibiotics Perforations often close rapidly Tympanostomy tubes Straight, narrow polyethylene tubes Can remain in ear for months Public Domain Otitis Media Complications Tympanic membrane perforation Mastoiditis Infection of mastoid process Labyrinthitis Vertigo, nausea, vomiting Intracranial infection Conductive hearing loss Mastoid Process of Temporal Bone Mastoiditis Mastoiditis Bacterial infection of mastoid air cells Found in mastoid bone (part of temporal bone) S. pneumoniae, S. pyogenes, and S. aureus (MRSA) Erythema, tenderness, and swelling Diagnosis: clinical plus CT scan Treatment: antibiotics Vancomycin or linezolid (cover MRSA) Other agents often added based on patient features Myringotomy +/- tympanostomy tube B. Welleschik Otitis Media with Effusion Serous Otitis Media Middle ear serous effusion No evidence of infection Often develops after AOM Often asymptomatic Most common symptom: hearing loss Often resolves with observation Tympanostomy tubes used in some cases Otitis Media with Effusion ENT Lecture Series Youtube Otitis Externa Swimmer’s Ear Infection and inflammation of external auditory canal Occurs in all age groups More common in summer among swimmers Ear pain with pruritus and discharge May cause hearing loss Most common bacteria P. aeruginosa (38%) S. epidermidis (9%) S. aureus (8%) Image courtesy of Harshita Yadav Otitis Externa Swimmer’s Ear Tenderness with ear tug External ear canal edematous and erythematous May see white, patchy exudate Clinical diagnosis Treatment: ear drops Antibiotics (ciprofloxacin/ofloxacin) Steroids Antiseptics: alcohol or acetic acid Public Domain Wikipedia FWS Fever Without a Source Acute febrile illness (temp > 100.4°F) Previously healthy child Etiology not apparent based on H&P Common problem in pediatrics Management varies by age Under 90 days: high risk sepsis 3 months and older: lower risk Shutterstock FWS in Infants Up to 90 Days of Age High risk of sepsis or septic shock Many possible underlying infections Urinary tract infections Bacteremia Meningitis Pneumonia Septic arthritis Osteomyelitis Approach varies by specific age group FWS Infants < 7 Days High risk of infant bacterial infection Must consider neonatal sepsis and meningitis Blood, urine and CSF cultures Treatment: empiric antibiotics Usually ampicillin/gentamycin Covers GBS, Listeria, Enterococcus, and most E. coli Wikipedia/Public Domain FWS Infants 7 to 90 Days Work-up based on age Younger infants (< 60 days) Full sepsis workup most cases Hospitalization often necessary Empiric antibiotics often used Older infants (60 to 90 days) Limited workup in some cases Inpatient or outpatient management Wikipedia/Public Domain FWS Children 3 to 36 Months Management based on child appearance Ill-appearing Weak cry Constant cry Falls to sleep or will not rouse Pale, cyanotic, mottled or ashen skin Dry mucous membranes Sunken eyes No smile Anxious, dull, or expressionless face Well-appearing Pixabay.com FWS Children 3 to 36 Months Most well-appearing children have self-limited viral illness In many cases, can be monitored as outpatients without further testing Ill-appearing children may have occult bacterial infections May require full work-up, hospitalization, empiric antibiotics Public Domain FUO Fever of Unknown Origin Fever > 101°F At least eight days No apparent diagnosis Broad differential Unusual infections (mycobacterial, fungal) Autoimmune disease (SLE, Kawasaki) Malignancy Detailed history and physical Many additional tests possible Wikipedia/Public Domain Vaccination Jason Ryan, MD, MPH Types of Vaccines Toxoid vaccines Chemically modified protein toxin Cannot cause infection (non-toxic) Elicits strong immune response Tetanus, diphtheria Conjugate vaccines Bacterial polysaccharide Conjugated to protein (e.g., tetanus toxoid) Hemophilus influenza type B Public Domain Types of Vaccines Killed (inactivated) viral vaccines Virus killed (inactivated) by a chemical Viral replication not possible Polio, hepatitis A, influenza (shot), rabies Can be used in immunocompromised Live, attenuated viral vaccines Weakened viral vaccines Replicate poorly inside the body MMR, varicella, rotavirus Others: oral polio, intranasal influenza Cannot be given to immunocompromised Not used in pregnancy Rs are Alive MMR Varicella Rotavirus Types of Vaccines Monovalent Protects against a single strain/pathogen Polyvalent Protects against two or more strains/pathogens Divalent Trivalent Quadrivalent Public Domain Childhood Vaccines Contraindications and Precautions Contraindications Prior severe allergic reaction to vaccine Precautions Moderate to severe febrile illness Shutterstock Childhood Vaccines Immunization before 6 weeks: weak response Magnitude of antibody response higher with older age at first dose Vaccines in babies require multiple doses to generate lasting response Pixnio.com Hepatitis B “Recombinant vaccine” Hepatitis B surface antigen (HBsAg) Produced through recombinant DNA in yeast cells Only vaccine given first 24 hours of life Infection can be passed mother to baby Newborn infection often leads to chronic disease Booster doses 1 month and 6 months Hepatitis B is for newborn Babies Wikipedia/Public Domain Hepatitis B If mother is known HepB + HBIG + HBV vaccine Øyvind Holmstad/Wikipedia 1-Year Vaccines Must wait until 12 months of age Avoid neutralization by maternal antibodies (disappear by 6-9 months) Earlier age for vaccination increases risk of vaccine failure MVA vaccines Measles, mumps and rubella (MMR) Varicella Hepatitis A MVA1 MMR Measles, Mumps, Rubella Measles Live, attenuated virus vaccine Combined to decrease number of shots Mumps Wikipedia/Public Domain Varicella Prevents chickenpox Live, attenuated virus vaccine May cause mild illness Licensed in 1995 Given at 12 months and 4 years Post-exposure prophylaxis Chickenpox Give vaccine Wikipedia/Public Domain Hepatitis A Self-limited hepatitis: symptoms resolve < 6 months Inactivated hepatitis A vaccine (most formulations) More common outside US 2-4-6 Month Vaccines DTaP Hib Pneumonia (PCV13) Polio (IPV) Rotavirus All given at 2, 4 and 6 months Most require a booster dose later Flikr/Public Domain DTaP Vaccine Diphtheria Diphtheria, Tetanus, and Acellular Pertussis Combined to decrease number of shots Corynebacterium diphtheriae Pharyngitis with great-white membrane Systemic disease can cause cardiomyopathy Toxoid vaccine Clostridium tetani Blocks inhibitory neurons Muscle spasms Trismus (lockjaw) Toxoid vaccine Wikipedia/Public Domain DTaP Vaccine Whooping Cough Diphtheria, Tetanus, and Acellular Pertussis Bordetella pertussis Causes whooping cough Initial vaccines (1900s): killed whole-cell B. pertussis Often caused fever, drowsiness, and anorexia Rare cases of encephalopathy Acellular vaccines (1990s) Purified bacterial components and inactivated toxin Fewer side effects Special contraindication: encephalopathy Rare cases of pertussis vaccine encephalopathy Occurs within 7 days Should not receive additional doses of pertussis vaccines Wikipedia/Public Domain Hib Vaccine Haemophilus influenzae serotype b (Hib) Bacterial meningitis and pneumonia Epiglottitis Hib Chocolate Agar Fever, sore throat, stridor Conjugate vaccine Hib capsular polysaccharide with protein carrier Either tetanus toxoid or N. meningitidis protein complex Wikipedia/Public Domain PCV13 Vaccine Streptococcus pneumoniae Causes pneumonia, meningitis, bacteremia and otitis media Conjugate vaccine Polysaccharides from 13 serotypes Conjugated to diphtheria toxoid Adult vaccine: PPSV23 Contains 23 pneumococcal polysaccharides Does not elicit immune response in children under 2 Asplenia: both vaccines administered Pneumonia IPV Vaccine Child with Polio Polio virus vaccine Prevents poliomyelitis IPV = inactivated polio vaccine (Salk vaccine) Inactivation of wild type poliovirus strains Virus treated with formalin Viral proteins remain as antigens OPV = oral polio vaccine (Sabin vaccine) Used in developing countries Live attenuated virus Virus grown in cells causing mutations Rarely causes vaccine-associated paralytic poliomyelitis (VAPP) Boston Children’s Hospital Archive Rotavirus Vaccine Causes gastroenteritis Live, attenuated viral vaccine Oral vaccines: drops in child’s mouth Introduced 2006 Contraindicated with history of intussusception Fatal intussusception after second dose reported Occurred in infants with intussusception after first dose Public Domain Influenza Vaccine Influenza A and B viruses Quadrivalent Two strains of influenza A and two strains of influenza B Updated each year with new strains Contain strains expected in flu season (fall/winter) Given annually to children > 6 months old Vaccine Influenza = VI months Public Domain Influenza Vaccine Inactivated influenza vaccines (IIV) Intramuscular injection Only contraindication: prior severe allergic reaction to vaccine Live attenuated influenza vaccine (LAIV) Licensed in 2012 Administered intranasally Must be healthy and nonpregnant Only ages 2 through 49 No thimerosal May contain residual amounts of egg protein Public Domain Influenza Vaccine Cautions Sensitivity to thimerosal Preservative used in multi-dose vials Can use single-dose vials without thimerosal Public Domain Eggs Most flu vaccines manufactured using eggs Contain small amounts of egg protein ovalbumin Amount of egg proteins very low in modern vaccines Studies indicate severe allergic reactions unlikely Patients with allergies can receive influenza vaccine No need for skin testing or special observation No need to screen for egg allergies Wallpaperflare Meningitis Vaccines Neisseria meningitidis Polysaccharide vaccines with toxoid MenACWY Quadrivalent vaccine: types A, C, W, and Y Infection requires throat colonization Does not occur until adolescence All patients 11 to 18 years old Others at increased risk for invasive meningococcal disease Neisseria = 11 years old Public Domain Meningitis Vaccines MenB Monovalent vaccine against type B Newer vaccine ≥ 10 years old at increased risk Complement component deficiencies Anatomic or functional asplenia Exposed to an outbreak HPV Vaccine HPV Cervical intraepithelial neoplasia HPV types 16 and 18 70 percent of cervical cancers worldwide 90 percent of anal cancers HPV types 6 and 11 Anogenital warts 9-valent vaccine available since 2016 in US Types 6, 11, 16, 18, 31, 33, 45, 52, and 58 ACIP Guidelines Ages 11 to 12 years Females (1A) and males (1B) Lee, Makin, Mtengezo, and Malata HPV Vaccine If start before 15 years Two doses Zero 6 to 12 months If start 15 or later Three doses Zero Two months Six months TdaP Tetanus, Diphtheria and Pertussis Different from DTaP Contains Td not DT Td = tetanus toxoid with reduced diphtheria toxoid Used as a booster Given at age 11 as booster Puncture wounds after age 11 Td given as booster immunization If more than 10 years since last tetanus immunization Premature or Low Birth Weight Babies Do not delay or dose adjust vaccinations Immunize according to chronologic age Normal schedule One exception: first dose HepB HepB at hospital discharge or 30 days of age Whichever earlier Wikipedia/Public Domain Pediatric Rashes Jason Ryan, MD, MPH Impetigo Superficial bacterial skin infection Macules → papules → rupture → erosions “Honey-colored” crust Highly contagious CNX OpenStax/Wikipedia Impetigo Impetigo contagiosa (non-bullous) Traditional, most common form Face and extremities Caused by S. aureus Also “Beta-hemolytic step” – mostly S. Pyogenes Treatment: antibiotics Limited: topical antibiotics (Mupirocin) Extensive: dicloxacillin or cephalexin Return to school 24 hours after starting treatment CNX OpenStax/Wikipedia Impetigo Bullae Other Forms Bullous impetigo Trunk commonly involved S. aureus Ecthyma Crusted sores with ulcers Public Domain Ecthyma Shutterstock Morbilliform Rash Resembles measles Diffuse maculopapular rash Macule: flat skin lesion ≤ 1 cm Papule: raised bump ≤ 1 cm Adults: usually drug reaction Children: usually viral infection Public Domain Roseola Measles Rubella Public Domain Roseola Infantum Five days of high fever May develop febrile seizures Fever breaks → rash develops Child feels well with rash Parents may worry child has measles In measles: sick during rash Benign, self-limited No longer contagious when afebrile 24hrs Shutterstock Measles Rubeola RNA viral infection Highly contagious – respiratory/airborne spread Incubation: 6 to 21 days after exposure Prodrome: 2 days to 1 week Fever (may be as high as 104°F) 3C’s: Cough, Coryza, Conjunctivitis Koplik spots: small, white lesions in mouth Koplik spots precede exanthem Wikipedia/Public Domain Measles Rubeola Exanthem: days after fever onset Classic maculopapular rash Starts at head → spreads to feet Shutterstock Measles Complications Diarrhea (most common complication) Otitis media: 5 to 10 percent of cases Pneumonia Most common cause of death in children Measles encephalitis Acute disseminated encephalomyelitis Demyelinating disease triggered by infection Subacute sclerosing panencephalitis (SSPE) YEARS after infection Personality changes, odd behavior, dementia Viral Pneumonia Measles Outbreaks 2014 outbreaks in U.S. among unvaccinated children Can spread to vaccinated children Vaccine 95% effective Test of choice: Measles IgM Not positive first few days of infection Treatment: mostly supportive Vitamin A Deficiency prolongs infection Virus may cause deficiency Ribavirin: weak evidence of benefit Rubella German measles; 3-day measles Also acquired by inhalation of respiratory droplets Mild, low-grade fever Maculopapular rash (1-5 days after fever) Starts on face, spreads to trunk and extremities Characteristic lymphadenopathy Posterior cervical Posterior auricular No cough, coryza, conjunctivitis or Koplik spots No specific treatment Causes congenital rubella syndrome Scarlet Fever Strawberry Tongue Rash following pharyngitis Skin reaction to S. pyogenes erythrogenic toxin Fever, sore throat, diffuse red rash Many small papules (“sandpaper” skin) Starts head/neck → expands to cover trunk Classic finding: strawberry tongue Eventually skin desquamates Palms and soles are usually spared Image courtesy of Afag Azizova/Wikipedia Scarlet Fever Wikipedia/Public Domain Parvovirus Single-stranded DNA virus B19 is predominant parvovirus in humans Four important syndromes Fifth disease in children Arthritis in adults Aplastic crisis in sickle cell anemia Hydrops fetalis Fifth Disease Erythema infectiosum; slapped cheek disease Mild fever and rash in children Outbreaks among school aged children Fever, runny nose Followed by rash (few days later) Cheeks look like they have been slapped Face rash often followed later by rash on trunk/limbs Self-limited: no diagnostic test or treatment Adults may catch this: mild arthralgia/arthritis Wikipedia/Public Domain Contact Dermatitis Type IV hypersensitivity reaction Many possible allergens: Contact Dermatitis Poison ivy or oak Iodine Rubber Nickel or other metals Erythematous papules and vesicles Oozing may occur Severe pruritus Treatment: topical or oral corticosteroids Wikipedia/Public Domain Diaper Rash Most common skin rash infants Usually form of contact dermatitis Moist environment irritates skin Erythematous patches Spares inguinal creases Diagnosis: clinical Treatment: Maintain clean skin Topical barriers/ointments Kezha Zutso /slideshare Candida Beefy red plaques Satellite papules Commonly involve the skin folds Diagnosis: clinical or KOH prep USMLEpathslides/Tumblr Molluscum Contagiosum Molluscum contagiosum virus (MCV) Highly contagious Transmitted skin to skin Firm, dome shaped papules Central umbilication/indentation Resolves over weeks/months Treatment (optional): Cryotherapy Curettage Cantharidin (topical agent) Public Domain Wikipedia/Public Domain Chickenpox Primary varicella zoster infection Prodrome: fever, malaise, or pharyngitis Generalized vesicular rash within 24 hours Pruritic Macules (flat) → papules (raised) → vesicles (fluid) Lesions can develop pus → crusted papules Lesions in different stages Treatment: valacyclovir or acyclovir No longer contagious when lesions crusted Wikipedia/Public Domain Acne Inflammation of hair follicles and sebaceous glands Exocrine glands in skin in dermis Secrete oily substance called sebum Often contain hair follicles (“Pilosebaceous unit”) Complex, multifactorial etiology Wikipedia/Public domain Acne Sebaceous glands enlarge at puberty ↑ androgens → ↑ sebum Adolescent acne: boys > girls Men with androgen insensitivity: no acne Women with excess androgens (PCOS): acne Increased sebum and keratin Keratinocytes line hair shafts → keratin Blocks ducts Bacterial growth behind blockage Dtesh71/Public Domain Acne Propionibacterium acnes Sebum: growth medium for bacteria Propionibacterium acnes Cutibacterium acnes Anaerobic bacterium Normal skin flora Wikipedia/Public Domain Acne Comedones: small, flesh-colored papules Clogged pores Open comedones: blackheads Closed comedones (by skin): whiteheads Inflammatory lesions (papules/pustules) Scarring and hyperpigmentation may occur Shutterstock Acne Affects most hormone-responsive glands Face, neck, chest, upper back Shutterstock Wikipedia/Public Domain Acne Treatment Benzoyl peroxide (topical) Breakdown keratin, unblocks pores (comedolytic) Bactericidal to P. acnes Antibiotics Decrease P. acnes colonization of skin Clindamycin and erythromycin Oral contraceptive pills Progestins: antiandrogen effects Retinoids (vitamin A derivatives) Benzoyl Peroxide Isotretinoin Accutane 13-cis-retinoic acid Decreases keratin production in follicles Less follicular occlusion Highly teratogenic OCP and/or pregnancy test prior to use Topical or oral forms Before Isotretinoin After Isotretinoin Public Domain Newborn Hyperbilirubinemia Jason Ryan, MD, MPH Bilirubin Metabolism Heme Unconjugated Bilirubin (Indirect Bilirubin) Conjugated Bilirubin (Direct Bilirubin) Neonatal Bilirubin Most newborns: unconjugated (indirect) hyperbilirubinemia Fetal red cells have short lifespan ↑ turnover of fetal red cells Immature liver (↓ metabolism) Low levels intestinal flora Levels peak 2 – 4 days after birth Normal adult total bilirubin < 1.0 mg/dL Normal infant peak ~ 8 mg/dL Unconjugated Bilirubin (Indirect Bilirubin) Indirect Hyperbilirubinemia Commonly causes neonatal jaundice Jaundice usually develops > 2 to 3 mg/dL Jaundice below umbilicus or icterus Signs of markedly increased bilirubin Bilirubin measurement Bilirubinometer (shines light on skin) Blood test Neurologic damage: bilirubin level > 25mg/dl Wikipedia/Public Domain Bhutani Nomogram Used to identify infants at risk of severe hyperbilirubinemia Interventions and follow-up testing based on risk zone ©2004 by American Academy of Pediatrics Subcommittee on Hyperbilirubinemia Pediatrics 2004;114:297-316 BIND Bilirubin-Induced Neurologic Dysfunction Unconjugated bilirubin soluble in fats Crosses blood-brain barrier Acts as a neurotoxin Basal ganglia; brain stem nuclei Bilirubin level > 25mg/dl Initially causes lethargy and hypotonia Untreated: Coma and seizures Opisthotonos/retrocollis Andwhatsnext/Wikipedia Opisthotonos and Retrocollis Opisthotonos Spasm of back Head and legs bend backward Trunk arches forward Opisthotonos Retrocollis Backward arching of neck Shutterstock Kernicterus Chronic bilirubin encephalopathy (CBE) Permanent neurologic damage from hyperbilirubinemia Cerebral palsy Hearing loss Gaze abnormalities Dental hypoplasia Indirect Hyperbilirubinemia Treatment Phototherapy Exposes skin to light of specific wavelength Converts bilirubin to lumirubin Isomerization (same chemical formula; different structure) More water soluble Allows excretion without conjugation Jim Champion/Flikr Indirect Hyperbilirubinemia Causes Physiologic Breast milk jaundice Breast feeding jaundice Hemolysis Rare causes Breast Milk Jaundice Persistence of benign neonatal hyperbilirubinemia Occurs in breast-fed babies Beta-glucuronidase in breast milk Increase in GI absorption of unconjugated bilirubin Jaundice appears day 3 to 4 Bilirubin peaks within 2 weeks Declines to normal levels by 12 weeks Baby will be feeding well and appear healthy Usually mild and does not require treatment Wikipedia/Public Domain Breast Milk Jaundice Unconjugated Bilirubin Conjugated Bilirubin Liver Excretion Conjugated Bilirubin Intestines Enterohepatic Circulation B-glucuronidase Breastfeeding Jaundice Inadequate lactation Inadequate intake of fluids and calories Increases enterohepatic circulation (↓ stool) Jaundice appears 1st week of life Hypovolemia and weight loss Signs of volume depletion on exam Irene/Wikipedia Hemolysis Often causes jaundice first 24 hours of life Feared cause: erythroblastosis fetalis Rh-negative mother Rh-positive baby Maternal IgG crosses placenta Can be caused by ABO antibodies Most are IgM Some are IgG often in type O mothers Baby with type A or B may have hemolysis Usually mild hemolysis Databese Center for Life Science Indirect Hyperbilirubinemia Rare Causes Crigler-Najjar Congenital hypothyroidism Galactosemia Spherocytosis Sepsis Direct Hyperbilirubinemia Conjugated Hyperbilirubinemia Always pathologic Biliary obstruction Biliary atresia Liver disease Shutterstock Delivery Room Care Jason Ryan, MD, MPH Delivery Room Care Dry and stimulate Clear airway if needed Provide warmth (blankets) Skin-to-skin contact with mother (warmth) Additional interventions after mother-child bonding Vitamin K Eye ointment Hepatitis B vaccine DerringUndo Apgar Scores Assigned to children at time of birth Assessed at 1 and 5 minutes after birth Score of 0, 1, or 2 for each of the following: Appearance Pulse Grimace Activity Respiratory 90% newborns have scores 7 – 10 Scores < 7 require further evaluation Apgar Scores Neonatal Resuscitation Normal newborn vitals: RR: 40 to 60/min HR: 120 to 160/min Bradycardia Marker of baby’s respiratory efforts Major cause in newborns: hypoxia Primitive “diving reflex” Neonatal Resuscitation Apnea/gasping and heart rate < 100 bpm First step: positive pressure ventilation Intubation Chest compressions Epinephrine via umbilical vein Labored breathing or cyanosis with heart rate ≥ 100 bpm Clear airway Use pulse oximetry to monitor O2 Administer supplemental oxygen Neonatal Resuscitation Program TTN Transient Tachypnea of the Newborn Respiratory distress in immediate newborn period Tachypnea (respiratory rate greater than 60/min) Cyanosis Increased work of breathing Slow clearance of fetal alveolar fluid (pulmonary edema) Common after caesarean delivery without labor Lack of physiologic stimulation to clear lungs Patrick J. Lynch TTN Transient Tachypnea of the Newborn CXR: pulmonary edema Usually benign and self-limited condition Treatment: supportive Oxygen/CPAP if needed Rarely requires high oxygen (>40%) Should resolve within 24 hours Patrick J. Lynch Neonatal Hypoglycemia Transient low blood sugar: normal after birth Maternal glucose lost → baby begins glycogen breakdown Usually falls first 2 hours then recovers Persistent hypoglycemia can occur Preterm infants or fetal growth restriction Large for gestational age Diabetic mothers May cause irritability, lethargy, rarely seizures Blood sugar not routinely checked unless symptoms Treatment: feedings Pixabay Polycythemia of the Newborn Newborns normally have increased red cell mass Fetus in a relatively hypoxic environment in utero Usual hematocrit healthy infants: 61% Splenomegaly normal in newborns Polycythemia: hematocrit > 65% Occurs in 1 to 5% of newborns Most common cause: delayed cord clamping Delayed cord clamping (↑ cord RBCs) More likely with IUGR/placental insufficiency Preeclampsia, SGA, post-term babies Databese Center for Life Science Polycythemia of the Newborn Usually asymptomatic Increased viscosity can obstruct blood flow Rarely may cause symptoms Hypoglycemia (excessive RBC glucose utilization) Hyperbilirubinemia Lethargy or poor feeding Treatment: Observation Hydration/glucose Rarely partial exchange transfusion Databese Center for Life Science Neonatal Sepsis Fever Irritability Risk factors: Chorioamnionitis Preterm delivery Prolonged membrane rupture Intrapartum fetal tachycardia Meconium-stained amniotic fluid Apgar < 6 (36x increased risk!) Wikipedia/Public Domain Neonatal Sepsis Diagnosis: blood culture Treatment: antibiotics Usually ampicillin/gentamycin Covers GBS, Listeria, Enterococcus, and most E. coli Wikipedia/Public Domain PPHN Persistent Pulmonary Hypertension of the Newborn Pulmonary vascular resistance should fall at birth Oxygen to lungs → PVR falls Persistent high PVR → shunting → hypoxemia Fetal shunts persist (foramen ovale, ductus arteriosus) Apparent during first 24 hours of life Respiratory distress and cyanosis Low Apgar scores Often co-occurs with meconium-stained amniotic fluid Usually occurs in term infants PPHN Persistent Pulmonary Hypertension of the Newborn CXR: usually clear lungs Diagnosis: echocardiography Treatment: Supportive care 100% oxygen (↓ PVR) Inhaled nitric oxide Intravenous sildenafil Public Domain Neonatal Respiratory Distress Transient tachypnea of the newborn Caesarean delivery without labor Respiratory distress syndrome Preterm infants Persistent pulmonary hypertension Term infant Meconium-stained amniotic fluid FreeStockPhotos.biz Newborn Nursery Jason Ryan, MD, MPH Newborn Nursery Eye Care Erythromycin ophthalmic ointment Prevents gonococcal eye infection Not effective against chlamydial conjunctivitis Prevention is diagnosis/treatment of chlamydia in mother Neonatal Conjunctivitis Ophthalmia Neonatorum Day Cause Treatment 0-1 Chemical irritation from eye ointment Classically caused by silver nitrate (not used in US) Self-limited 2-5 Gonococcal; gram-negative diplococci Purulent exudates, eyelid swelling IM Ceftriaxone 5-14 Chlamydial Watery, mucopurulent discharge Oral erythromycin 5-14* HSV Serous (pale-yellow transparent) discharge Acyclovir * Can occur up to 6 weeks after birth Newborn Nursery Vitamin K Single IM dose Prevents vitamin-K deficient bleeding Sterile GI tract at birth Insufficient vitamin K in breast milk Risk of neonatal hemorrhage Ernest F/Wikipedia Newborn Nursery Hepatitis B Vaccine Only vaccine given first 24 hours of life Infection can be passed mother to baby Newborn infection often leads to chronic disease Newborn Nursery Umbilical Cord Clamp and cut at birth Keep stump dry No need to sterilize Bacteria can help cord separate Omphalitis: Infection of umbilicus/surrounding tissue Polymicrobial Risk of sepsis Treatment: IV broad-spectrum antibiotics Umbilical Granuloma Most common cause of an umbilical mass Soft, moist, and pink Treatment: topical silver nitrate Public Domain Newborn Nursery Screening Pulse oximetry Screen for hypoxemia Congenital heart disease Blood spot test Many conditions Congenital hypothyroidism Congenital adrenal hyperplasia Phenylketonuria Hearing Shutterstock Newborn Nursery Feeding Frequent feeding to avoid hypoglycemia Full-term babies lose weight after birth Up to 10 percent of birth weight Occurs in first few days of life Usually regained by 10 to 14 days Infants double birth weight by four months Triple birth weight by one year Flickr/Public Domain Newborn Nursery Monitoring Glucose Monitor for hypoglycemia in high-risk infants Preterm Large for gestational age Small for gestational age Infants of diabetic mothers Bilirubin Bilirubin-induced neurologic dysfunction (BIND) Visual assessment for jaundice Transcutaneous bilirubin measurement Total serum bilirubin measurement Flikr/Public Domain Newborn Nursery Circumcision Elective procedure May reduce risks of: Penile cancer UTIs Foreskin disorders (inflammation/fibrosis) Transmission of HIV/HPV/HSV Procedural risks Bleeding/infection Glans injury Urethrocutaneous fistulas (urine leakage) Wikipedia/Public domain Breastfeeding Breast Milk Contents Lactose Antimicrobial components Antibodies (mostly IgA – passive immunization) Macrophages Lymphocytes Lactoferrin (anti-microbial) Lysozymes (breaks down bacterial cell walls) Low vitamin D content Vitamin D supplementation recommended for breast-fed babies Public Domain Breastfeeding Benefits to Child Lowers risk of infant infections (GI, pulmonary) Possible long-term benefits Some studies show reduced allergies, diabetes, obesity Achoubey/Wikipedia Breastfeeding Benefits to Mother Decreased risk of breast and ovarian cancer Possible decreased risk of cardiovascular disease Maternal-infant bonding Faster childbirth recovery Enhanced weight loss Longer postpartum anovulation Cost saving compared to formula Wikipedia/Public Domain Breastfeeding Contraindications Herpetic breast lesions HIV or HTLV infections Chemotherapy or radiation Drug or alcohol use Galactosemia in infant Ibrahimi O., et al. Acute Onset Vesicular Rash. Am Fam Physician 2010 Oct 1; 82(7):815-816 Used with Permission FPIES Food Protein-Induced Enterocolitis Syndrome Food hypersensitivity reaction Most commonly due to protein in cow’s milk or soy Usually formula-fed infants Rare in exclusively breastfed babies Soy Beans and Soy Milk Starts shortly after birth Vomiting and diarrhea Dehydration and failure to thrive Diagnosis: clinical Treatment: elimination of trigger substance Usually resolves by 3 years old Pixabay FPIAP Food Protein-Induced Proctocolitis Also food hypersensitivity reaction to protein Also starts shortly after birth Half of affected babies are exclusively breast fed Cow’s milk: most common trigger Consumed by mother or from formula Infant appears well Main clinical feature: blood-streaked loose stools May have other evidence of allergic disease (eczema) Diagnosis: clinical Treatment: elimination of trigger substance Shutterstock Preterm and Postterm Infants Jason Ryan, MD, MPH Special Newborn Groups Prematurity Postterm pregnancy Small for gestational age Large for gestational age Prematurity Birth before 37-weeks gestation Term: 38 weeks or more “Late preterm:” 34 to 37 weeks “Extremely preterm:” 2.0 in amniotic fluid suggests lungs mature Neonatal RDS Neonatal Respiratory Distress Syndrome Respiratory Distress Syndrome Surfactant deficiency High surface tension → atelectasis Decreased lung compliance Hypoxemia/↑ pCO2 (poor ventilation) Poorly responsive to O2 Lungs collapsed (alveoli) Intrapulmonary shunting Diagnosis: clinical plus CXR CXR: diffuse ground glass appearance Public Domain Neonatal RDS Risk Factors Prematurity Maternal diabetes High insulin levels decrease surfactant production Cesarean delivery Baby spared stress response at delivery Reduced fetal cortisol Reduction in surfactant Cesarean Delivery Neonatal RDS Prevention and Treatment Preterm delivery: betamethasone Corticosteroid Given to mother to stimulate surfactant production Treatment: surfactant Administered via endotracheal tube Wikipedia/Public Domain Neonatal RDS Complications Patent ductus arteriosus Hypoxia keeps shunt open Bronchopulmonary dysplasia Oxygen toxicity Alveolarization does not progress normally Respiratory problems during infancy Often improves during childhood Public Domain Retinopathy of Prematurity Underdeveloped retinal vessels before birth Neovascularization in the retina Increased risk: exposure to high oxygen content Retinal detachment → blindness Diagnosis: retinal exam Treatment (severe cases): Laser therapy VEGF inhibitors Public Domain Apnea of Prematurity Immature respiratory control Cessation of breathing for at least 20 seconds Respiratory pauses with desaturation and/or bradycardia Treat with nasal continuous positive airway pressure (nCPAP) Methylxanthine therapy Caffeine or theophylline Blocks adenosine receptors Adenosine inhibits respiratory drive Treatment will cause tachycardia Patrick J. Lynch Necrotizing Enterocolitis Intestinal necrosis and obstruction Usually terminal ileum or colon Can lead to perforation and infection Most (90%) cases in preterm infants Associated with antibiotic therapy Often in formula-fed babies Risk factor: Non-human milk Mikael Häggström/Public Domain Necrotizing Enterocolitis Feeding intolerance Abdominal distention Diagnosis: X-ray (alternative: CT) Pneumatosis intestinalis Gas in the bowel wall Pathognomonic finding of NEC in newborns Treatment: Supportive care Antibiotics Surgery Pneumatosis Intestinalis Public Domain GERD Gastroesophageal Reflux Disorder Can occur in any newborn More common in premature babies Multifactorial mechanisms Clinical manifestations Nonspecific irritability Vomiting Failure to thrive Diagnosis: usually clinical suspicion (challenging) Treatment: diet, positioning, medications Wikipedia/Public Domain Intraventricular Hemorrhage Hemorrhage into lateral ventricle Hypotonia Loss of spontaneous movements Seizures, coma Germinal matrix problem Highly vascular area near ventricles Prematurity: poor autoregulation of blood flow here Full-term infants: decreased vascularity Diagnosis: cranial ultrasound Treatment: supportive www.mrineonatalbrain.com Used with permission Intraventricular Hemorrhage Intraventricular Hemorrhage Grades 1 through 4 Hydrocephalus White matter injury Cerebral palsy Intellectual impairment www.mrineonatalbrain.com Used with permission Prematurity Immune Function Cellular immunity impaired ↓ T-cells and B-cells at birth Some babies have neutropenia Risk of infection/sepsis Mgiganteus/Wikipedia Prematurity Long-term Complications Increased mortality and morbidity SIDS Leading cause infant mortality 1 month to 1 year in US Increased risk with preterm birth or low birth weight Increased risk of neurocognitive problems Cognition Social skills Behavioral and emotional skills Growth impairment Impaired respiratory function Postterm Pregnancy Delivery at > 42-weeks gestation ↑ risk of short-term newborn complications Usually results in macrosomia (large baby) Fetal growth restriction may occur beyond 40 weeks Placental insufficiency Fetal malnourishment may occur Rarely causes umbilical cord compression Leads to neonatal asphyxia Possible neurologic damage Shutterstock Dysmaturity Syndrome Occurs in babies with marked intrauterine growth restriction (IUGR) Can occur in postterm pregnancies and SGA babies Rarely seen in modern era due to elective delivery Placenta insufficiency and malnourishment Characteristic appearance at birth: Newborn Vernix Long, thin arms and legs Dry, “parchment-like” skin Peeling, loose skin Long toenails and fingernails Baby alert with “wide-eyed” look Decreased/absent vernix Wikipedia/Public Domain Meconium Aspiration Syndrome Meconium Respiratory distress Meconium-stained amniotic fluid (MSAF) at birth Tachypnea and cyanosis More common if pregnancy lasts beyond 40 weeks Treatment: supportive Maintenance oxygenation and ventilation Empirical antibiotics Wikipedia/Public Domain Small for Gestational Age Low Birth Weight Less than 2500 grams (5.5lbs) or 10th percentile Occurs in ~10% of term babies Caused by IUGR Increased risk of: Neonatal mortality Newborn complications Lower birth weight → greater risk complications Pixabay/Public Domain Small for Gestational Age Newborn Complications Perinatal asphyxia Chronic undernourishment from placenta Contractions at birth → hypoxia Hypothermia Hypoglycemia Impaired immune function Hypocalcemia Polycythemia Nevit Dilmen/Wikipedia Large for Gestational Age Greater than 4000 grams (8.8lbs) or 90th percentile Associations: Maternal diabetes (gestational or preexisting) Maternal pre-pregnancy weight Excessive maternal weight gain Øyvind Holmstad/Wikipedia Large for Gestational Age Complications Macrosomia associated with birth injuries Maternal complications Shoulder Dystocia Vaginal lacerations Severe postpartum hemorrhage Increased likelihood of cesarean delivery Infant complications Shoulder dystocia Brachial plexus injury Clavicular fracture Wikipedia/Public Domain Child Abuse Jason Ryan, MD, MPH Child Maltreatment Child (physical) abuse Sexual abuse Emotional abuse Child neglect Child Abuse Injury to a child by parent or caregiver Commonly affects children under 1 year of age Perpetrator usually closest family member (mother) Often identified by healthcare providers Child Abuse Injuries History Reported minor trauma → major injury Caregiver history changes over time Severe injury blamed on siblings/pets Child Abuse Injuries Bruising Most common abuse injury Multiple bruises Buttocks, trunk, ear, neck Thirteen Of Clubs/Flikr Child Abuse Injuries Fractures Often identified by skeletal survey X-rays of all bones Multiple fractures in different healing stages Rib fractures Long bone fractures in baby Gilo1969/Wikipedia Child Abuse Injuries Retinal Hemorrhage Head Trauma “Abusive head trauma” “Shaken baby syndrome” Retinal hemorrhages Subdural hematoma Public Domain Child Abuse Selected Risk Factors Parent factors Single, young parents Lower parental level of education Parental substance or alcohol abuse Parental psychiatric illness Child factors Unplanned pregnancy Unwanted child Learning disabilities, behavioral problems Child Abuse Diagnosis and Management Standard imaging tool: skeletal survey X-rays of all bones in the body Head CT if head trauma suspected Ensure child safety Remove child from caregiver Contact authorities Treat injuries Child Sexual Abuse Most common pre-puberty (9-12 years old) Perpetrator usually male known to child Trauma to mouth, anus, genitals Sexually transmitted infection Emotional Abuse Psychological Abuse Child feels worthless, unloved Verbal abuse Criticism Intimidation (scaring child) Humiliation Confinement for prolonged periods as punishment Child Neglect Common form of child maltreatment 50% cases reported to child protection services Inadequate food, shelter, supervision, affection Poor clothing and hygiene Underweight or malnourished Must be reported to protective services All 50 states have laws requiring physician reporting Pediatric Orthopedics Jason Ryan, MD, MPH Developmental Dysplasia of the Hip Abnormal development of acetabulum and proximal femur Hip laxity common in newborns Most will outgrow this Persistent laxity may require treatment Mechanical instability of hip Often detected in 1st months of life Leg length discrepancy Asymmetric inguinal folds Hip instability on exam Can lead to early osteoarthritis in adulthood Public Domain Developmental Dysplasia of the Hip Ortolani Hip abducted while pushing trochanter anteriorly Dislocated hip: palpable clunk Barlow Hip adducted Unstable hip: palpable clunk American Academy of Pediatrics: Screen infants up to three months of age Shutterstock Developmental Dysplasia of the Hip Diagnosis Often runs in families Clinical diagnosis with imaging confirmation Less than 4 months: ultrasound of hip X-rays have limited value Bones are cartilaginous and not ossified More than 4 months: X-ray Hip Ultrasound Developmental Dysplasia of the Hip Treatment Abduction splint (Pavlik harness) Reduction Surgery Complications: Early osteoarthritis Avascular necrosis Public Domain SCFE Slipped Capital Femoral Epiphysis Slippage of overlying end of femur Epiphysis slips posteriorly Most common hip disorder in adolescence (~13 yrs) Periods of rapid growth shortly after puberty onset Groin pain and limp on affected side Limited hip motion Orthopedic emergency Diagnosis: X-ray (ice cream falling off cone) Treatment: surgical femoral head pinning Normal SCFE Legg-Calvé-Perthes Disease Idiopathic avascular necrosis Hip disorder in children (~6 years) Abnormal blood flow to femoral head Often presents as a painless limp Legg-Calvé-Perthes Disease Contrast with SCFE Subacute/insidious onset Usually over 1 month Contrast with other hip disorders James Heilman, MD/Wikipedia Legg-Calvé-Perthes Disease Diagnosis and Treatment X-ray Legg-Calvé-Perthes Disease Insensitive May be normal in early disease MRI: very sensitive Treatment: Avoid weight bearing Splinting Rarely requires surgery (controversial) Often resolves (bone heals) Can lead to early osteoarthritis James Heilman, MD/Wikipedia Scoliosis Lateral curvature of the spine Common in adolescents (> 10 years old) “Early onset” scoliosis occurs before this age (rare) Common in females in thoracic spine May lead to chronic back pain and deformity Severe cases: restrictive lung disease Diagnosis: Inspection Adams forward bend test X-ray Shutterstock Adams Forward Bend Test Patient bends forward at waist until spine parallel ground Patient observed from the back Shutterstock Scoliosis Treatment Based on Cobb angle and skeletal maturity Smaller angles may not progress Skeletally immature patients may outgrow scoliosis Observation Smaller angles (< 20°) Bracing Surgery Larger angles (> 50°) Shutterstock Osgood-Schlatter Disease Tibial tuberosity avulsion Overuse injury in children (usually 9 to 14) Pain and swelling at tibial tubercle Insertion point of patellar tendon Secondary ossification center of tibia Chronic avulsion (pulling) Diagnosis: clinical Usually benign, self-limited condition Shutterstock Metatarsus Adductus Most common congenital foot deformity Medial deviation of forefoot (“C shape”) Toes point inward Usually resolves spontaneously Public Domain Talipes equinovarus Club Foot Evident at birth Caused by deformity of talus Medial deviation of forefoot Foot supination Plantar surface turned inward Usually isolated (80% cases) Non-isolated cases: Talus Bone Trisomy 18 Spina Bifida Other disorders Public Domain Talipes equinovarus Treatment Ponseti Method Casting Stretching Casting and bracing Ponseti method Achilles tenotomy Done after casting Releases tightness in Achilles tendon Madilyn Seely/Slideplayer Lower Extremity Alignment Varus: bow-legged Valgus: knock-kneed At birth varus alignment is normal Standing/walking: amount of varus increases Early walkers have more varus alignment By 24 months: alignment usually neutral Shutterstock Lower Extremity Alignment After 24 months: alignment becomes valgus Maximum valgus at 4 years After 4 years valgus alignment decreases By 7 years: permanent slight valgus Shutterstock Genu Varum Genu = knee Genu varum normal from birth until ~ 3 years Pathologic after 3 years Blount disease (most common cause) Skeletal dysplasia Rickets Systemic diseases affecting bone Shutterstock Blount Disease Abnormal growth plates near medial tibia Etiology poorly understood Diagnosis: clinical plus X-ray Treatment: bracing or surgery Public Domain Skeletal Dysplasias Disorders of skeletal development Achondroplasia Pseudoachondroplasia Metaphyseal chondrodysplasia Shutterstock Rickets Calcium, phosphate or vitamin-D deficiency Poor mineralization of bone in children Bowed legs is a classic finding Michael L. Richardson, M.D./Wikipedia Genu Valgum After 24 months: alignment becomes valgus Maximum valgus at 4 years After 4 years valgus alignment decreases By 7 years: permanent slight valgus Pathologic valgus (rare) after 7 years: Often posttraumatic Other rare causes Shutterstock Flat Feet Pes Planus Normal in babies Does not cause pain Requires evaluation only if limited range of motion Shutterstock Child Psychiatry Jason Ryan, MD, MPH Autism Spectrum Disorder Neurodevelopmental disorder Exact cause unknown Associated with TORCH infections Rubella, CMV Abnormal social skills Communication/interaction Repetitive behavior patterns Limited interests and activities Hepingting/Flikr Autism Spectrum Disorder Diagnostic Criteria Clinical diagnosis Deficits in social interaction in multiple settings Failure of back-and-forth conversation Reduced sharing of interests, emotions Abnormal eye contact or body language Difficulty making friends Lack of interest in peers Autism Spectrum Disorder Diagnostic Criteria Restricted, repetitive patterns Repetitive movements, use of objects Insistence on sameness, unwavering adherence to routines Preoccupation with certain objects Symptoms must impair function Symptoms must be present in early development Often diagnosed about 2 years of age Symptoms sometimes present earlier but unnoticed Symptoms not accounted for by other causes Intellectual disability, learning disorder, deafness Autism Spectrum Disorder Other Features Intellectual impairment Variable Some skills weak (i.e. verbal communication, reasoning) Savants Some patients have special skills in one area Memory, music, art, math Classic example: determining day of week for given date Autism Spectrum Disorder Clinical Features Often identified by pediatrician Issues with behavior, language, socialization Failure to reach developmental milestones Not gesturing or babbling by 12 months No two-word phrases at 2 years Referral to ASD specialists for diagnosis Autism Spectrum Disorder Clinical Features More common among males Four times > females Increased head circumference 25% of cases: greater than the 97th percentile Ephert/Wikipedia Autism Spectrum Disorder Associated Disorders Fragile X syndrome X-linked trinucleotide repeat disorder Long face, big ears, large testes Down’s syndrome Rett’s syndrome Neurodevelopmental disorder of girls Initially normal development Regression of cognitive/motor skills Repetitive hand movements Autism Spectrum Disorder Treatment Early behavioral intervention Behavioral management Occupational therapy (teaching skills for daily activity) Speech therapy No specific effective medical therapy Medications only for symptoms Hyperactivity Depression Two FDA-approved medications (antipsychotics) Risperidone Aripiprazole ADHD Attention deficit hyperactivity disorder Exact cause unknown Limited attention Hyperactivity Poor impulse control Normal intelligence on testing But may have difficulty in school amenclinicsphotos ac/Flikr ADHD Diagnostic Criteria Frequent symptoms of hyperactivity/impulsivity Present in more than one setting (school/home) Persist for at least six months Present before age of 12 Impairs social/school functioning Excessive for developmental level of the child ADHD Diagnostic Criteria ADHD Epidemiology Four times more common in males Most cases among children 6 to 12 years old Symptoms persist to adulthood up to 2/3 of cases marviikad/Flikr ADHD Treatment Behavioral interventions (rewards, time out) Behavioral therapy Stimulants Atomoxetine Alpha-2 agonists Best treatment: therapy plus medication Better than either alone Wikipedia/Public Domain Stimulants ADHD associated with decreased CNS dopamine activity Increase CNS dopamine and norepinephrine activity Increase CNS levels in synapses Improve ADHD symptoms ADHD children stimulated by activity Drugs relieve need to self-stimulate Dopamine Norepinephrine Stimulants Methylphenidate (Ritalin) Amphetamine (Adderall) Dexmethylphenidate (Focalin) Amphetamine Methylphenidate Dexamethylphenidate Stimulants Adverse Effects Loss of appetite Weight loss Insomnia Abuse potential Pixabay/Public Domain Atomoxetine Considered a non-stimulant treatment for ADHD Selective norepinephrine re-uptake inhibitor No direct effects on dopamine systems in CNS Dopamine effects may cause euphoria Less abuse potential May have less insomnia, loss of appetite Norepinephrine Atomoxetine Alpha-2 Agonists Clonidine Guanfacine Decrease norepinephrine release Sedating and calming Neuron Prefrontal Cortex Tourette Syndrome Tic Disorder Neurologic disorder Occurs in children Hallmark: recurrent tics Sudden, quick repetitive movements or speech Commonly co-occurs with other disorders Attention deficit hyperactivity disorder (ADHD) – 60% Obsessive-compulsive disorder (OCD) – 30% Tourette Syndrome Motor tics Sudden, quick movements Eye blink Head jerk Grimace Speech (phonic) tics Sudden, quick speech, usually few words Coprolalia: obscene language Tourette Syndrome Diagnostic Criteria Based on clinical criteria Tics for at least one year Onset before 18 years (DSM-5 criteria) Multiple motor tics One or more phonic tics Tics occur many times a day Tics not be explained by another cause Tourette Syndrome Treatment Behavioral therapy (especially if OCD, ADHD) Antipsychotics Haloperidol, pimozide, and aripiprazole Fluphenazine, Risperidone May cause tardive dyskinesia Tetrabenazine (“dopamine depletion”) Inhibits VMAT-2 (vesicular monoamine transporter type 2) Blocks uptake of dopamine synaptic vesicles (pre-synapse) Less dopamine storage/release VMAT D D D D D2 Oppositional Defiant Disorder Angry, irritable child Argues with authority figures Defiant Vindictive toward parents/teachers Gerry Thomasen/Flikr Oppositional Defiant Disorder Diagnostic Criteria and Treatment Occurs with at least one individual who is not a sibling Causes problems at work, school or home Not caused by substance use, depression or bipolar Lasts at least six months Treatment: Cognitive behavioral therapy Resolves in most children DMDD Disruptive mood dysregulation disorder New disorder Added to DSM-V in 2013 Controversial Some symptoms common (irritability) Similarities to ODD Few established treatments DMDD Disruptive mood dysregulation disorder Childhood mood disorder Must occur before age 10 Excessively irritable or angry behavior Frequent temper outbursts At least three times per week At least two settings (home, school, etc.) Behavior out of proportion to situation DMDD Disruptive mood dysregulation disorder Cognitive behavioral therapy Anti-psychotics Anti-depressants Stimulants Separation Anxiety Disorder Childhood anxiety disorder Distress when separating home/parents Refusal to leave home Refusal to go to school Worry about losing major attachment figures Persistent reluctance/refusal to go out Separation Anxiety Disorder Nightmares about separation Repeated complaints of physical symptoms Headaches, upset stomach, nausea Occurs with separation or in anticipation Treatment: psychotherapy Goal: teach children coping skills Cognitive behavioral therapy Parent-child interaction therapy D Sharon Pruitt/Wikipedia Conduct Disorder Childhood behavioral disorder Repeated pattern of violating rights of others Aggression to people/animals Destruction of property Lying or stealing Adult version: Antisocial personality disorder aaron gilson/Flikr Bad Behavior Conduct Disorder Property destruction Aggression to animals ADHD Poor attention Hyperactivity ODD Argues Defiant DMDD Temper tantrums Congenital Gastroenterology I Jason Ryan, MD, MPH Meconium Meconium First stool of newborn Dark, thick, and sticky Should pass within 24 hours Meconium aspiration syndrome Meconium passes in utero Baby born through meconium-stained amniotic fluid Causes newborn respiratory distress Treatment: maintenance oxygenation and ventilation Empirical antibiotics Jeremy Kemp Delayed Meconium Passage May indicate intestinal obstruction Many potential causes Must consider meconium ileus and Hirschsprung’s Pixabay.com Meconium ileus Small bowel obstruction due to meconium Meconium too thick/sticky (“inspissated”) Meconium plug forms Abdominal distension Bilious vomiting (green-yellow color) Almost all cases associated with cystic fibrosis BruceBlaus Meconium ileus Diagnosis Abdominal x-ray Plain X-ray Contrast Enema Identifies dilated bowel loops “Soap-bubble” sign Meconium mixed with air Excludes perforation Contrast enema x-ray Small colon (“microcolon” - unused) Partial small bowel filling Pellets of meconium medpix.nlm.nih.gov Public Domain Meconium ileus Management Nasogastric decompression Gastrografin enema Done after diagnostic enema Hyperosmolar enema Draws fluid into bowel Breaks up meconium Surgery for hemodynamic instability Hirschsprung’s Disease Congenital motor disease of colon Abnormal peristalsis of colon Absent ganglion cells Derived from neural crest cells Fail to migrate properly in Hirschsprung's disease Result: obstruction (no peristalsis) Often associated with other anomalies Vision, hearing, genitourinary, cardiac Associated with Down syndrome Shutterstock Hirschsprung’s Disease Clinical Features Failure to pass meconium Abdominal distention Bilious vomiting Examination: no stool in rectal vault Squirt or blast sign Rectal exam → temporary obstruction relief Rapid emptying of bowels Less severe disease (uncommon): chronic constipation Hirschsprung’s Disease Diagnosis and Treatment Abdominal x-ray Dilated bowel No air in rectum Contrast enema: “transition zone” Done after x-ray showing no perforation Proximal distended bowel (normal) Distal bowel small (abnormal) Dr Hani Salam/Radiopedia Dr. Abd Allah Nazeer, MD/Slideshare Hirschsprung’s Disease Diagnosis and Treatment Rectal “suction” biopsy Rectum ALWAYS involved (other areas variable) Standard biopsy may only show mucosa Need to biopsy full thickness including submucosa Diagnosis confirmed by showing absence of ganglion cells Treatment: colon resection Removal of colon without ganglion cells Intestinal Atresia Atresia = closed/absent opening Can occur anywhere in GI tract Duodenum is most common Colon rare Associated with polyhydramnios Bilious vomiting in newborn Abdominal distension Arkaprovo Roy/Slidehshare Duodenal Atresia Double Bubble Sign Associated with failure of “recanalization” In early development, duodenum occludes Patency restored by recanalization Associated with Down syndrome Diagnosis: x-ray Double bubble sign Distention of duodenal stump and stomach Tight pylorus in middle No distal gas Kinderradiologie Olgahospital Klinikum Stuttgart Duodenal Atresia Double bubble + no distal gas = duodenal atresia Upper GI series Contrast x-ray Rules out malrotation with midgut volvulus Shows dilated stomach/duodenum, no distal bowel gas Definitive treatment: surgery After stabilization with NG tube and fluids Arkaprovo Roy/Slidehshare Jejunal-Ileal Atresia Vascular disruption → ischemic necrosis of intestine Necrotic tissue resorbed Leaves blind ends of bowel Bowel distal to blind end may be curled “Apple-peel atresia” Pixabay/Public Domain Jejunal-Ileal Atresia Triple Bubble Sign X-ray: triple bubble sign Classic finding in jejunal atresia Double bubble plus 3rd bubble for jejunal distension Treatment: surgery Dev Lakhera/Slideshare.net Malrotation Failure of embryonic gut to rotate normally Improper positioning of the bowel Fibrous adhesions of peritoneum (Ladd Bands) Can cause duodenal obstruction from bands May be asymptomatic throughout life Sometimes incidentally discovered Most common presentation in babies: midgut volvulus Midgut Volvulus Small bowel (usually ileum) twists around SMA Causes small bowel obstruction Vascular compromise → ischemia Usually presents 3 to 7 days of life Bilious vomiting Mild abdominal distention Blood in stool Sepsis (bowel necrosis) Fever Signs of peritonitis or shock possible Hytham Nafady/Slideshare.net Midgut Volvulus Best initial test: abdominal x-ray Can be normal in early stages May show dilated bowel loops Excludes perforation Malrotation with Midgut Volvulus US: dilated duodenum Normal US does not exclude diagnosis Diagnosis: upper GI series with contrast “Corkscrew” appearance of proximal small bowel Dr Gianni Giancaspro/Radiopedia.org Midgut Volvulus Treatment: urgent surgery Ladd’s procedure Remove adhesions and appendix Put small bowel on right, colon on left Needpix.com Bilious Emesis in Newborns Contrast Enema Hirschsprung’s Meconium Ileus SD SD Upper GI Series Small intestinal atresia Malrotation/Volvulus Congenital Gastroenterology II Jason Ryan, MD, MPH Biliary Atresia Biliary obstruction in newborns Biliary ducts do not form or degenerate early in life Presents 2 to 8 weeks after birth Jaundice Conjugated hyperbilirubinemia Dark urine Pale stools (“acholic”) Elevated AST/ALT Shutterstock Biliary Atresia Diagnosis and Management Initial diagnosis: ultrasound Gallbladder absent or abnormal Absence of common bile duct No other causes of obstruction Small, Irregular Gallbladder Treatment: surgery (Kasai procedure) Hepatoportoenterostomy (HPE) Create conduit for bile drainage using small intestine Followed by treatment with ursodeoxycholic acid Modifies balance of bile acids to protect conduit Most children eventually need liver transplant Phòng Khám An Nhi/Slideshare Esophageal Atresia Esophageal narrowing or interruption Most commonly occurs with tracheoesophageal fistula Lewis Spitz. Oesophageal atresia. Orphanet Journal of Rare Diseases Esophageal Atresia Clinical Features Esophagus does not connect to stomach Polyhydramnios (baby cannot swallow fluid) Drooling, choking, vomiting (accumulation secretions) Symptoms occur with feeds Cannot pass NG tube into stomach Fistula esophagus → trachea Gastric distension (air in stomach on CXR) Reflux → aspiration pneumonia → respiratory distress Lewis Spitz. Oesophageal atresia. Orphanet Journal of Rare Diseases Esophageal Atresia Clinical Features Tracheoesophageal Fistula (Air in stomach; NG tube coiling) Best initial test: chest x-ray NG tube curled Gas-filled gastrointestinal tract Treatment: surgical repair Prognosis: Sometimes residual dysmotility GERD CincyKidsRad/Figure 1 VACTERL Association Vertebral defects Anal atresia Cardiac defects Tracheoesophageal fistula Renal anomalies Limb abnormalities Anomalies that commonly occur together Babies with VACTERL have at least three Diagnosis of one → screen for others CDH Congenital diaphragmatic hernia Developmental defect of diaphragm Defective formation pleuroperitoneal membrane Abdominal organs herniate into chest In utero herniation → pulmonary hypoplasia Can lead to fetal demise Patrick Lynch/Wikipedia CDH Congenital diaphragmatic hernia Diagnosis in utero: ultrasound At birth: chest x-ray Abdominal contents in chest Initial stabilization and ventilation Definitive treatment: surgery Sohowdidthishappen/Figure 1 Hypertrophic Pyloric Stenosis Hypertrophy of pylorus Gastric outlet obstruction “Projectile,” non-bilious vomiting (clear/yellow) Palpable mass – “olive sign” Feels like olive Pylorus Metabolic alkalosis from vomiting Usually presents three to six weeks of age “Hungry vomiting” www.MedicalGraphics.de Hypertrophic Pyloric Stenosis 30% are first-born children More common in males Macrolide antibiotics Erythromycin and azithromycin Increased risk when used before 2 weeks of age Pylorus www.MedicalGraphics.de Hypertrophic Pyloric Stenosis Diagnosis: ultrasound “Target sign” or “Donut sign” Hypertrophied hypoechoic muscle Surrounds mucosa Target or Donut Sign String Sign (ultrasound) (contrast X-ray) Upper GI contrast X-ray Done if US equivocal String sign Elongated pyloric canal Treatment: Volume resuscitation Surgery Dr Hidayatullah Hamidi/Wikidoc Omphalocele Persistence of normal herniation Intestines covered by peritoneal membrane Usually herniate through umbilical cord Easily identified on fetal ultrasound Rarely involves liver Liver does not normally herniate CDC/Public Domain Omphalocele Many associated genetic defects Trisomy 21 (Down syndrome) Trisomy 18 (Edwards syndrome) Trisomy 13 Many associated conditions Congenital heart defects (up to 50% babies) Orofacial clefts Neural tube defects Treatment: surgical closure CDC/Public Domain Gastroschisis Extrusion of bowel through abdominal wall defect Not covered by peritoneum Free-floating bowel in amniotic sac on US Elevated maternal AFP Incomplete closure of abdominal wall Paraumbilical abdominal wall defect Usually on right side of umbilical cord Bowel ischemia and necrosis may occur CDC/Public Domain Gastroschisis Usually an isolated defect Contrast with omphalocele Usually no trisomy or other defects Treatment: surgery CDC/Public Domain Meckel’s Diverticulum Most common congenital GI anomaly Diverticulum of small bowel (ileum) Persistent remnant of vitelline duct BruceBlaus Meckel’s Diverticulum “True diverticulum” Contains all layers of bowel wall: mucosa, submucosa, muscular Contrast with colonic diverticula Often contains stomach tissue “Ectopic gastric tissue” Origin unclear Sometimes pancreatic tissue also Raziel Meckel’s Diverticulum Clinical Features Usually no symptoms Often incidental discovery on imaging or at surgery Can present at any age but 50% < 10 years Ectopic gastric tissue may secrete acid Ulceration Pain Bleeding Most common symptom: painless bleeding Potential cause of obstruction, diverticulitis Meckel’s Diverticulum Rule of 2’s 2 percent of population Male-to-female ratio 2:1 Within 2 feet from the ileocecal valve Usually 2 inches in size Meckel’s Diverticulum Diagnosis and Treatment Technetium scan Meckel’s Diverticulum (technetium scan) Also called a “Meckel’s scan” Tracer taken up by gastric cells in diverticulum Treatment (symptomatic): surgery JasonRobertYoungMD Intussusception “Telescoping” of intestine Intestine folds into lumen Often near the ileocecal junction Common in children (often < 2 years old) Abdominal pain GI bleeding: “currant jelly” (rare) Mixture of blood and mucous Olek Remesz/Wikipedia Intussusception Lead Point Underlying lesions often lead to intussusception Intestine trapped and dragged by peristalsis Meckel’s diverticulum Lymphoid hyperplasia (viral gastroenteritis) Strong association with enteric adenovirus infection In adults: tumors BruceBlaus Intussusception Diagnosis and Management Diagnosis: abdominal ultrasound “Bull’s Eye” sign or “Target” sign Target Sign Treatment: air enema Resolves in-folding of intestine Surgery in severe, refractory cases Public Domain Annular Pancreas Congenital anomaly of ventral pancreatic bud Fuses around duodenum Ring of pancreatic tissue that surrounds duodenum Usually asymptomatic Can cause small bowel obstruction Rarely leads to recurrent pancreatitis BruceBlaus Annular Pancreas Barium X-ray Diagnosis: upper GI series or CT scan Treatment: duodenoduodenostomy Bypass annulus Do not resect → may cause fistula pediatricimaging.org Pancreas Divisum Dorsal and ventral pancreatic ducts do not fuse Two separate ducts Often asymptomatic May cause pancreatitis BruceBlaus