Developmental, congenital and childhood diseases and disorders Flashcards
(89 cards)
1
Q
At what point during the birthing process does a developmental dilemma occur?
A
- any point in prenatal development, from birth process (perinatal period) or during neonatal and postnatal periods
2
Q
stages of sperm penetration into a oocyte
A
- s[er, w nucleus containing chromosomes in cneter and acrosome containing enzymes in outline of sperm head
- sperm perforates in acrosome wall made of multi-numbered corona radiate cells
- sperm enters zona pellucida nad plasma membrane of oocyte
- sperm finally enters cyto plasm of oocyte w/o plasma membrane
3
Q
5 stages of preantal development
A
- Fertilization w/ implantation embryo
- cleavage stage 2-cell embryo
- blastocyst with labels marked clockwise as: inner cell mass, blastocele, trophoblast and embryonic cells
- Germ layer formation with labels marked clockwise as: inner cell mass, blastocele, trophobast and bemryonic cells
- early organogenesis with labels marked clockwise as: amnion, surface ectoderm, neural tube, lateral mesoderm, endoderm, intermeidate mesoderm, somite, yolk sac, psoterior neuropore and anterior neuropore
4
Q
What are some congenital anomalies?
A
- mental or physical, can vary widely in severity, from trivial to fata
- present at birth but may not be detected until later in infancy or childhood
- limbs or organs may bwe malformed, duplicated, or entirely absent
- organs sometime fail to move to proper location or fail to open or close at right time
- anomalies r seldom isolated and r likely to occur in muliple forms and/or organs or organ tissues
- cause may be genetic, nonegentic or both (nongenetic causes include infection, drugs, age of motehr, radiographic exam madeearly in prgnancy or injury to pregnant women r ftus)
5
Q
What are genetic disorders and syndromes
A
- genetic r result of abnomral gene taking up residence on one of 22 pairs of nonsex chromosomes
- if abnormal gene is one of the 22 pair of autsomes than diseases is autosomal inherited condition
6
Q
methods of prenatal diagnosis
A
- congenital anomalies in fetus can be diagnosed by taking fluid sample from amniotic sac btwn 5th and 18th wk of pregnancy (known as amniocentesis) to be tested for abnrmoal substances or chromosomal abnormalities
- example of abnormal substances is elevated alphafetoprotein (AFP) level
- abnormalities of spine, skill, heart and kidney can be seen in ultrasound
- chorionic villus biopsy (CVB) can be performed in 2nd month of pregnancy
7
Q
What is chorionic villus biopsy (CVB)
A
- gynecoloist, guided by ultrasonography
- drects an isntrument toward placeta into womb and obtains tissue sample
- safety of this proceudre is unkown
8
Q
What are conjoined twins?
A
- during conception process, embryo may divide = identical twins
- conjoined twins r result when seperation process of identical twins fails to complete before 13th day after fertilization
- more common in female embryos
- conjoined twins r joined at different locations and may share various organs
- cranial union = craniopagus twins
- anterior junction at chest (heart and vital prtion of chest wall and internal organs) r called thoracopagus conjoined twins (most common form)
- posteriorly conjoined at rump = pygopagus twins
- breastbone to waits (omphalopagus)
- 1 body, 2 separate heads and necks (dicephalus)
9
Q
What is preterm birth/ prematurity
A
- result of birth before 37th wk
- birth of low-wt, underdeveloped, short-gestation infant
- leading cause of neonatal death
- incomplete development of organ systems
- greater risk for developing serious health problems like CP, intellectual development disorders, chronic lung disease, GI problems, vision and hearing ploss and mutlisystem developmental delays
10
Q
s/s of permature babies
A
- low as 12 oz or less
- little subcutaneous fat
- palsm and soles w/ few creases
- pssible undescended testes n males
- promiment clitoris in females
- lack the ability to suck or swallow or have weakened sucking or swallowing reflexes
- lungs r often udnerdeveloped = respiratory dangers
- difficulty maintaining body temp, controlling cardiac funtion, spntaneous episodes of apnea or seziure activity
- immature immune system makes risk of infection high
11
Q
etiology of premature infants
A
- incompetent cervix
- bicornuate uterus
- toxic conditions
- maternal infection
- trauma
- premature rupture of amniotic membranes
- history of previous miscarriages
- multiple gestations
- intrauterine fetal delayed growth
- pregnancy-induced or chronic hypertension
- diabetes, heart disease, kidney disease, poor nutrition, substance abuse, lack of prenatal care
12
Q
Diagnose and treat preamture babies
A
diagnose - gestational age of less than 37 weeks and small for gestational age (SGA) (less than 5 lb 8 oz)
treatment - depends on ggestational age, wt, present or subsequent conditions, anomalies, nutrional statues
- IVs
- hyperalimentation
- airway management and pulmonary function r monitored v. closely
- v. small babies r intubated endotracheally and respiration is maintated by mechanical ventilator
- CPAP through nose
- pulse oximeter
- monitor body temp
- vigilance for infection s/s and antibiotics
- monitor blood glucose, bp, body temp
13
Q
prognosis of premature babies
A
- documents of 12 oz and/or 22 gestational wk babies surviving fall into 1% of premature babies born at that wt. and gestational age)
- gnerally accepted gestatonal age for 50% of intants to survue birth process and perinatal period is 24 weeks w/ increasing percent of infants surviving as gesatonal age increases
14
Q
Main concerns for premature babies
A
- cerebral bleeding during labor and delivery or handling after delivery and can lead to the development of CP, mental functioning deficinecies, or other neurologica conidtions
- lack of body fat can affect maintenence of body temp
- any stress or increase or high supplemental O2 may be respnsible for retinopathy of prematurity (ROP) and possible blindness
- Necrotizing enterocoltisi (NEC) is dangerin digestive system bc reduced tolerance of alimentary tract
- Atrial septal defect (ASD) and patent ductus arteriosus (PDA) often r present because fetal circulatory systemhas failed to mature
- underdevelopment of pulmonary system including lung tissue and airway including:
- infant respiraotry distress syndrome (IRDS)
- bronchopulmonary dysplasia (BPD)
- laryngomalacia
- tracheomalacia
- bronchomalacia
15
Q
prevention of premature babies
A
- good prenatal care
- adequate nutrition
- assessment of pergnant pt risk factors for premature labor
- abstain from alc consumotin and smoking cigs
- bed rest for mother
- drug therapy to stop premature labor
16
Q
What is infant respiratory distress syndrome?
A
- aka hyaline mebrane disease
- similar to adult respiratory distress syndrome in that pt suffers acutre hypoxemia caused by infiltrates within alveoli
- s/s r nasal flaring, grunting respiration and sternal retraction + blood gas studies that indicate reduced oxygen tension and infeefective gas exhange + cyanotic with mottled skin
- caused bu lungs of neonate lacking surfactant needed to allow alveoli to expand (surfactant is normally produced late in fetal life)
17
Q
how to diagnose and treat IRDS?
A
diagnose - increased respirtory efforts of new born and history of prematurity, blood gas studies, radiographic chest films for presence of infiltrate or hyaline mebrane
treat - titrated supplemental O2 w/ mechanical ventialtion and postive end-expiratory pressure (PEEP), drug therapy including aerosol infsion of an exogenous surfacant like beractant (Survanta) or poractant alfa (Curosurf) into pulmonary tree via endotracheal tube as soon as possible after bith to help create artifical surfactant (neesd to be withing first 8 hrs of life and repeated 1 or 2x)
18
Q
prevention of IRDS?
A
- inject mother with corticosteroid, betamethasone (Celestone Soluspan) 24hrs before delivery to attempt to mature surfactant-synthesizing system
19
Q
What is laryngomalacia?
A
- exhibits respiratory stridor that is louder on inspiration
20
Q
What is tracheomalacia?
A
- exhibits respiratory stridor that is more pronounced on expiration
21
Q
What does laryngomalacia, tracheomalacia and bronchomalacia cause + diagnose?
A
- cause infant to expereicne dyspnea and cyanosis
- oxygen saturation levels decrease
- infants expereince bradycardia
- infants occasioanlly experience feeding difficulties
- diagnose w/ chest radiography, CT, flexible fiberoptic laryngoscopy and bronchoscopy
22
Q
What is bronchopulmonary dysplasia?
A
0 serious, chronic lung disease
- results after insult to neonate’s lungs
- may be result of IRDS< lung infection or extreme prematurity
- lungs r stiff, obstructed and hard to ventilate
- caused by IRDS< mechanical ventialtion with supplemental oxygen, infection or pneumonia (pressure and oxygen needed to maintain O2 levels can damage soft and fragile lung tissue, causing overinflamtion or scarring)
23
Q
What r s/s of bronchopulmonary dysplasia?
A
- DYSPNEA
- tachypnea
- wheezing
- cyanosis
- nasal flaring
- sternal retractions
- decreased O2 saturation
- slow heart rate
- coughing
- difficulty feeding
- babies appear working hard to breath
- poor posture of neck , shoulders and uper body
- wet, or crackling sounds r heart on ausculation of lungs
24
Q
how to diagnose BPD (for neonates)
A
diagnose - early respiratory distress, radiographs r abnromal and indicate alveolar damage, scarring or overinflation (sometimes described as ground glass apperance), arterial blood gas levels indicate problem, o2 levels in lungs r low and CO2 levels r high
25
how to treat BPD (for neonates)
- replacement of damaged alveoli (children grow new alevoli until 8), infants who have BPD grow new alveoli and this occurs severity decreases
- supplemental O2 (via nasal cannula or tracheostomy collar or CPAP)
- adequate nutritional support (needed for infant's growth and to meet increased caloric demand resulting from difficult breathing)
- diuretics (reduce fluid accumlation in lungs and reduce incidence of pulmpnary hypertension and right-sided heart failure)
- bronchodilators (reverse the narrowing of bronchi resulting from inflammation or bronchospasm) (including beta-agonists, anticholingeric drugs and theophylline
- antiinflammatory drugs like steroids
26
prognosis of bronchopulmonary dysplasia
- good w/ early and aggressive intervention, prudent monitoring and maintencen of adeuqite O2 saturation levels and heart rate
- resolution of condition is slow and improvement is gradual
- complications include pulmonary edema, hypertension, right-sided heart failure (cor pulmonale), respiratory infections, apnea, tracheomalacia, astham, GI reflux, and aspiration
- susceptible to respiratory infections like bronchiolitis caused by respiratory syncytial virus (RSV)
- may experience poor growth or delayed development
-- many kids outgrow these conditions but other r susceptible to respiratory distress for life
- apneic periods and low Oxyfen satureation levels for extended may cause hypoxia of brain which may result in developmental deficits
27
What is retinopathy of prematurity?
- ROP or retreolental fibroplasia
- abnormal growth of blood vessels in retinas of the infant's eyes
- conditon occurs in eyes of premature infants
- occurs most often in infants born before 28 wks
- no visible symptoms
- exam of entire retina r perfromed in infants under 1500g or at gestational age less than 30 wks when infants r 4-6 wks old
28
etiology + risk factors of retrolental fibroplasia
- vascularization of retina begins at back central part of eye as vessels grow out toward edges
- blood vessels to the retina don't develop until 28th wk so in premature infants this vascularization is incomplete
- most ROP originates 34-40wks after conception
- risk factors r lower birth wt, more prematurity, high supplemental oxygen concentration, drugs (like surfactant and indomethacin) for treatment of immature lungs (as well as PDA) may increase risk, intense artificial lighting, seizures, mechanical ventilation, anemia, blood transfusion and multiple spells of apnea and bradycardia
29
how to diagnose and treat retrolental fibroplasia
diagnose - by ophthalmologist using indirect opthalmoscope and scleral depression to visual retina, lens and iris
treatment - mild form self resolve, laser treatment to area anterior to vascular shunt eliminates abnormal bvessels before they deosit enough scar tissue to cause retinal detachment
30
prognosis for retrolental fibroplasia
- blindness may result from serious damage
- if resolved can have later complications like strabismus, lazy eye (amblyopia), nearsigntedness, glaucoma, late-onset retinal detachment
- may need corrective glasses
- requires monitoring
- partial or completely detached retina may occur in most serous cases
31
prevention for ROP?
0 close monitoring and adjusment of O2 concentrtion
- reduce excessive exposure to artifical lighting
- avoid exposing excessive exposure to artificial lighting
- avoid exposing premature infants to stress factor
- regular screening, staging and appropriate intervention
32
What is necrotizing enterocolitis?
- acute inflammatory process caused by ischemic necrosis of mucosal lining of small intestine, large intestine, or both
- develops after birth when fragile intestinal tract of premature or compromised new born becomes active
- etiology is thought to be breakdown in normal defense system of GI tract, allowing normal flora of GI tract to invade intestinal mucosa which can happen when blood is shunted away from GI tract, resulting in convulsive vasoconstriction of mesenteric vessels and diminished blood supply, interfering w/ normal producton of mucus
- risk facotrs r hyopvolemia, sepsis, umbilical catheters, exchange transfusion, IRSD< oral feeding of high-cal concentrated formula
33
s/s of NEC?
- feeding intolerance
- abd distention
-bile-colored emesis
- diarrhea
- blood in stool
- decreased or absent bowel sounds
- lethargy
- body temp instability a few days after birth
- respiratory problems related to brief apneic periods, reduced urine output, hyperbilirubinemia, and erythema
- abd is tender to palpation
34
how to diagnose and treat NEC?
diagnose - observing changes in infant's feeding patterns or activity level, impaired body temp maintenance, respiratory difficulties along with abdominal disention, tenderness, elevated WBC count, occult blood, bacteria in blood and stool + radiography of intestine
treatment - feedings r stopped, insert tube into stomach by nose or mouth for decompression, administer fluids and antibiotics intravenously, monitor ABGs (respriatory status and pH), infant wt, intake and output, fluid and electrolyte balance, monitor abdominal distention, may need to surgically removal necrotic tissue (ileostomy or colostomy) w/ complications of intestinal perforation or peritonits
35
risk factors of NEC?
- risk factors r hypovolemia, sepsis, umbilical catheters, exchange transfusion, IRSD< oral feeding of high-cal concentrated formula
35
risk factors of NEC?
- risk factors r hypovolemia, sepsis, umbilical catheters, exchange transfusion, IRSD< oral feeding of high-cal concentrated formula
36
skeletal system s/s of robinow syndrome
- condition of small stature (dwarfism) depressed nasal bridge, malaligned teeth
- shorter lower arms (mesomelic brachymelia)
- small hands and feet (brachydactyly) with clinodactyly usually on 5th finger
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- vertebral segmentation defects (dominant- at most a single butterfly vertebra, recessive- multiple verebral segmentation defects (always multiple rib anomalies, fusions)
- hemivertebra, vertebral fusion, narrow interpediculate distance
- vertebral segmentation defects
dominant- at most a single butterfly vertebra
recessive- multiple verebral segmentation defects (always multiple rib anomalies, fusions)
- hemivertebra, vertebral fusion, narrow interpediculate distance
38
spinal malformations of robinow syndrome
- vertebral segmentation defects
dominant- at most a single butterfly vertebra
recessive- multiple verebral segmentation defects (always multiple rib anomalies, fusions)
- hemivertebra, vertebral fusion, narrow interpediculate distance
39
abnormaliteis of head and facial area s/s of robinow syndrome
- flat facial profile with larger head (macrocephaly not necessarily associated with hydrocephaly)
- bulging forehead w/ widely spaced eyes
- short upturned nose with anteverted nostrils and flat nasal bridge
- wide traignular mouth, long philtrum w/ broad horizontal upper lip in dominate form, short philtrum with inverted v-shaped or tented upper lip in reccesive
- crowded misaligned teeth and gum hypertrophy
40
eyes and ears s/s of robinow syndrome
- hypertelorism/ hypoplastic or shortened, S-shaped lower eyelids giving impression of prominent eyes
- ear r sometimes cup shaped, flapped and/or low set
41
genital hypoplasia of robinow syndrome
- males often have underdeveloped penis, sometimes only visible when surrounding skin is retracted
- undescended testicles
- clitoris and labia minora (sometimes labia majora) r underdeveloped (hypolastic)
42
What is robinow syndrome
- small stature and related incidence of interorbital distance, bluging forehead, depressed nasal bridge, malaligned teeth and short limbs
- children r often born after normal gestation
- generally have normal birth wt
- genetic syndrome (recessive form is coaused by mutation of pecific gene located in chromosome 9q22 which deals wit hbone and cartilage formation)
- normally have life span
43
How to diagnose and treat robinow syndrome?
diagnose - characteristic s/s + genetic study for chromosomal defect, misdiagnosis often occurs bc smallness of body + eating and swallowing difficulties
treatment - no cure bc genetic, addressing treatable conditions like dental abnormalities, cleft palate, and orthopedic conditions including scoliosis genetic counseling and psychosocial counseling
44
What is Cri-du-Chat Syndrome (Cat's Cry Syndrome)
- deletion of genetic material from short arm of chromosome 5 of B group
- usually results in stillborn children or those who dies shortly after birth
- abn small head, deficiency of cerebral brain tissue, some level of intellectual development (motor and language skill development may be delayed + behavior problems)
- weak,newing catlike cry, orbits of eyes r spaced far apart, poor muscle tone
45
What is hypertrophic cardiomyopathy (HCM)
- congential disorder occurs when portion of heart muscle thickens w/o apparent cause (major cause of sudden cardiac death in young ahletes)
- normal alignement of myocardial cells is disturbed (myocardial disarray), resulting in disruption of cardian electrical impulse
- inherited autosomal dominant
- avoiding strenous exercise = fair outlook
46
s/s of HCM
- first sign is collapse of healthy yung athlete during stressful exercise folloed by cardiac arrest caused by cardiac arrhythmia
- most dont have s/s till collapse
- some symptoms may be chest pain, syncope, hypertension, palpitaitons, SOB, fatigue, SOB when lyign down, reduced tolerance of activityy
47
how to diagnose HCM
- young ppl who collpase during strenous exercise and have sudden cardiac arrest is made of autospy
- before collapse diagnosis is drop in bp during exercise
- family history of cardiac arrest or sudden death a tyoung age
- history of individual experiencing palpitaitons or unexplained syncope
- presence of life-threatening arrythmias
- ECG, radiography, cardiac MRI for thickness of areas of myocardiam
- genetic test
48
how to treat HCM
- meds like beta-blockers and calcium channel blockers
- pacemaker or implantable cardioverter-defibrillator (CD)
- surgical myectomy
- avoid strenous exercise and stressful situation
49
What is anencephaly?
- most severe from of neural tube defect
- occurs in gestation with failure of the cephalic end of the neural tube to close completely during second or third week of gestation
- no cranial vault, little cerebral tissue, bones of base of skills and orbitals r present
- most die before birth or during birth process
- few survive for short time
- found during prenatal ultrasonogrpahy and elevated blood AFP level
- familial, more in females
- possibly mother's diet and vitamin intake
50
What is fetal circulation?
- oxygen and nutrients r supplied by mother's blood to developing fetus
- maternal blood supply also carries away waste product
- exchange place in placental tissue
- umbilical vessels (2 arteries and 1 veins) transport blood btwn placenta and fetus
51
process of fetal circulation
- umbilical vein transports O2 rich blood and nutrients to the fetus
- umbilical vein enters fetal body passing through the umbilical ring and then goes on to liver (50% of this blood passes into liver and other 50% bypasses liver by way of the ductus venosus) (ductus venosus soon joins inferior vena cava, allowing oxygenated placental blood to mix with deoxygenated blood coming from lower fetal body)
- blood mostly bypasses lungs bc lungs arent functioning (enter right atrium by inferior vena cava shunt directly to left atrium through foramen ovale w/ septum primum (small valve on L side of atrial septum) preventing blood from going back itnto right atrium)
- pulmonary trunk has high resistance to blood flow bc collapsed state of lungs, thus allowing small amt of blood to enter pulmonary circulation
- ductus arteriosus connects pulmonary trunk to descendign area of aortic arch (allows blood with low O2 concentration to bypass the lungs and prevent it from arteries leadign to brain)
- blood w/ high O2 concentration mixes w/ small amt of blood returning from pulmonary ciruclation and flows into left ventricle and then into aorta (from aorta, some into coronary and cartoid arteriea and rest into descending aorta to other parts of fetal tissue)
- remaining blood travles into umbilical arteries and back to placenta for exchange of gases,nutrients and waste
52
fetal circulation after birth?
- resistance to blood flow through lungs is reduced by inflation, allowing increaed blood flow from pulmonary
- increased volume of blood now flows from right atrium into right ventricle and pulmonary arteries
- reduction of blood flow through foramen ovale
- volume of blood returning by way of pulmonary veins from lungs to left atrium is increased, causing increase in pressure in left atrium
- blood is forced against the spetum primum by decreased R atrial pressure and increased left atrial pressure and foramen ovale closes
- w/ lungs expanding and taking over function of gas exchange, infant no longer needs ductus arteriosus to shunt blood from pulmonary trunk to descending aorta
53
s/s of congenital cardiac defects?
- developmental anomalies of heart of great vessels of heart
- categorised into acyanotic (deoxygenated and oxygenated blood don't mix) (greatest concer is congestive heart failure) and cyanotic (deoxygenated and oxygenated blood mix) (greatest concern is hypoxia)
54
What are cyanotic defects?
- oxygenated blood doesn't mix with deoxygenated blood and infants has fairly normal pink skin color
- s/s usually develop after discharge from hospital
55
What is a ventricular septal defect
- most common congenital cardiac disorder
- abn opening btwn right and left ventricles
- blood is shunted from left to right side of heart as result of higher pressure in left ventricle
- characteristic murmur is harsh and holosystolic (murmur is loudest when defect is small bc relatively large amt of blood is passing through tiny opening)
- s/s r failure to gain wt, restlessness, irritabilty, sweating when feeding, increased heart rate and respirations
- condition may go undetected until later in childhood, adolescence or adulthood
56
What are cyanotic defects?
- central cyanosis is a sign that atrial blood is not fully oxyfneated
- infant appears cyanotic w/ blue tine to lips, tongue and nail beds
- 5 major causes r tetralogy of Fallot, transopsition of great arteries, truncus arteriosus, tricuspid atresia, and total anomalous pulmonary venous
- detect some defects on prenatal ultrasonography, most r discovered during newborn exam
57
What is clubfoot?
- obvious, nontraumatic deformity of foot of newborn in which anterior half of foot is adducted and inverted
- heel is drawn up w/ lateral side of foot being convex and medial aspect being concave
- true clubfoot cannot be manipulated to proper position
- etiology: some say fetal positoin, other say genetic factors bc of abnormal development of germ plasma during embryonic stage
- treat w/ cast application or use of splints (bar affixed to shoes) which are changed frequently as correction icnreases and infant grows, may need surgery
58
What developmental dysplasia of hip (DDH)?
- previously known as congenital hip dysplasis (CHD)
- abnormal development of hip joint, raning from unstable joint to dislocation of femoral head from acetabulum
- s/s r asymmetric fold of thigh of newborn w/ limited abduction of affected hip + shortening of femur when knees and hips r flexed atright angles
- etiology: unknown, typically occurs shortly before, during or after birth, possible as a result of softneing of ligametns caused by matneral hormone relaxin or from breech presentation, morecommon in females
- signs include positive Ortolani and Barlow maneuvars
- treatment - use of various devices to reduce hip dislocation, after femoral head is returned to its proepr position legs r held in palce by Pavlik harness, splint or cast, allowing stable maintenance of hip in position of flexion and abduction
59
What is cleft lip and palate?
- congential birth defect consisting of one or more celfts in upper life
- cleft palate is birth defect in which tere is a hole in middle of roof of mouth (palate)
- s/s r cleft extending through hard and soft palates into nasal area (singularly or linked and vary in severity), difficulty w/ nasal regurgitation and feeding bc of air leaks around cleft (major issue is appearance)
- cause is failure in embryonic development of fetus (considered multifactorial genetic disorder and occurs in 1 in 10,000 births)
- repaired surgically as soon as possible, special feeding devices can be tried, child often needs speech therapy
60
What is Phimosis?
- stenosis of opening of foreskin in males, leading to inabiltiy to retract foreskin
- rare for foreskin to be retractable in neonatal period up to adolescence
- can be problematic if acquired after neonatal period
- s/s r diffulcty urination, difficulty cleaning area under prepuce of glands penis, resulting accumulation of secretion
- diagnosis is made by visual exam and inabiltiy to slide prepuce back over glans penis
- treatment is circumcision or gently washing ga=lands and prepuce with soap and water and gently prepuce back over glands
61
What is congenital pyloric stenosis?
- aka congenital hypertrophic pyloric stenosis
- gastric obstruction assocaited with anrrowing of pyloric sphincter at exit of stomach
- s/s r projectile vomiting after feedigns, fails to gain wt, hungry, continues to feed yet failsto gain weight, electrolyte imbalanace, small olive-shaped hard mass may be palplated in region of pyloric sphincter and left to right peristalsis folloed by reverse peristalsis (emesis contains no bile)
- slight hereditary but cause is unknown, 4x more in males
- diagnosed with upper GI radiographic studies and ultrasonogrpahy of pyloris
- treatment is surigcal intervention in which pylorus is incised (pyloromyotomy)
62
What is Hirschsprung disese?
- aka congenital aganglionic megacolon
- familial
- impairment of intestinal motilit that causes obstruction of distal colon
- defect lies in abnormal innervation of intrinsic musculature of bowel wall (parasympathetic nerve ganglion cells r absent in a segment of colon, usually rectosigmoid area, resulting in lack of peristalsis and backup of fecal material, proximal poriton of colon becomes grossly distented and instentianl obstuction occurs)
- higher in females and children w/ Down sydrome
63
s/s of Hirschsprung disease?
- s/s depends on age
neonatal newborns:
- fails to pass meconium within 48 hrs
- infants have bile-stained or fecal vomitus
- abd is distented
- failure to thrive
- obstinate constipation
- vomiting and fever
- explosive, watery diarrhea
in older child:
- chronic symptoms such as constipation
- abd distention
- ribbonlike stools that r foul smellling
- easily palpable fecal masses
- visible peristalsis
- child appears malnourished and anemic
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how to diagnose and treat Hirschsprung disease
- diagnose: fmaily shitry, clinical picture, radiographic sutdies of bowel and biopsy for absence of ganglionic cells
- treatmentL relief of obsutrction by surgical intervention, the affected bowel is excised, normal color is joined to anus, temporary colostomy is performed proximal to aganglionic section of color, electrolyte and fluid balance must be mainitained, close colostomy after colon recovers (6 months to 1 yr)
65
What is Phenylketouria?
- inborn error in metabolism of amino acids that can cause brain damage and intellectual development disorder
- enzyme needed to change phenylalanine in body to tyrosine is lacking so phenylalanine accumulates in blood and urine and is toxic to brain
- s/s begin when infant is 4 months old when characteristic musty odor of child's perspiration and urine, rashes, irritabilty ,hyperactivity, personality disorders, arrested brain development
- autosomal recessive trait
66
how to diagnose and treat Phenylketouria?
diagnose - mandatory screening of blood in newborn (positive Guthrie test result indicaites presence of phenylalanine in blood), urine is testeed for phenylalanine derivates
treatment - place infant on phenylalanine-free diet for rest of life (restrict or eliminate, meet, chicken, fish, cheese, nutrs and dairy products bc natural proteins cotain phenylalanine, monitor intake of some starchy foods and aspartame(
67
What is sudden infant death syndrome?
- sudden and unpredicated death of an infant younger than 1 y/o
- formerly called crib death
- number 1 cause of death among infants 1-12months
- 1 in 2000 infants die musteriously during fisrt ur of life
- death occurs within seconds during sleep w/o sound or struggle, baby doesnt suffer, has mottle complexion and cyanotic lips and fingertrips at death
- causes r thought to be mother less tha n20, poor prental care, smoking or drug abuse during pregnancy, exposing infant to secondhands smoke, prematurity, recent upper respriartory tract infeciton, sleeping prone position, sibling with apnea
- higher in males and during winter months
68
how to prevent SIDS?
- supine sleeping position
- prevent exposure to cig smoke
- use of firm bedding material in safety-approved cirb
- remove blankets and pillows
- avoid overheating infant w/ excessive clothing
- breastfeeding and good prenatal care
- avoid contact of infatn w/ anyone w/ upper respiratory illenns or GI upset
69
what is croup?
- acute, severe inflammation and obstruction of respiratory tract
- preced by an upper respiratory tract infection
- s/s include hoarseness ,fever, hars, high-pitch cough and stridor during inspiraton caused by narrowing of upper airways, dyspnea, grunting noise or wheezing, circumoral cuanosis
- vial disease that involves larynx, trachea, bonrchi, caused by edema and spasm of vocal cords, creating varyng degrees of obstruction
69
what is croup?
- acute, severe inflammation and obstruction of respiratory tract
- preced by an upper respiratory tract infection
- s/s include hoarseness ,fever, hars, high-pitch cough and stridor during inspiraton caused by narrowing of upper airways, dyspnea, grunting noise or wheezing, circumoral cuanosis
- vial disease that involves larynx, trachea, bonrchi, caused by edema and spasm of vocal cords, creating varyng degrees of obstruction
70
how to diagnose and treat croup?
diagnose - blood or throat culutre, laryngoscopy, radiographs of airway for steeple sign or to rule out obstruction by foreign body
treatment - symptomatically, administration of antipyretic agents, rest, increased fluid intake, cool humidification of air, antiotic therapy, steam from war shower, doe of seroids to decrease airway edema, if severe than endotracheal intubation and oxygne tehrapy until respiraotry crisis passess 9304 days usually)
71
What is epiglottitis?
inflammation of epiglottis
- 3-7 y/o
- sore throat, croupy cough, fever, respiroary distress caused by laryngeal obstruction, red, swollen epiglottis, rapidly increasing dyspnea and drooling r most signficiant sign of critical respriatory emergency
- follow uper respiraotry tract infeciton
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what causes epiglottitis (viruses and bacterias and all that jazz)
(most common cause is Haemophilus influenzae type b (Hib)
- streptococcus pneumoniae
- VZV
- Haemophilus parainfluenzae
- Staphylococcus aureus
- herpes simplex virus type 1 (HSV-1)
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how to diagnose and treat epiglottitis?
diagnose - radiography, examine throat
treatment - if airway is obstructed then child is hospitalized and given intensive care (tracheostomy or endotracheal intubation), antiobitcs, usually ampicillin) r given parenterally
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What is acute tonsillitis?
- painful inflammatory and infectious process affecting tonsils
- mild to severe sore throat, chills, fever, headache, malaise, anorexia, muscle and joint pain
- tonsils appear inflamed and swollen w/ yellowish exudate projecting from crypts
- lymph glands in submandibular area r tender and enlarged
- diagnose w/ throat culture
- treat: if group A streptococci than full 10 day course of penicillin to prevent rheumatic fever, rheumatic heart disease, renal complications (liquid diet or saline throt irrigations if pain is debilitating)
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What is adenoid hyperplasia?
- abnormal enlargement of lymphoid tissue located in space above soft palate of mouth causing a partial breathing blockage esp in children
- at birth adenoids and tonsils r present and play role in formation of immunnoglobulins but after puberty they normally atrophy
- can contribute to recurrent otitis media and conductive hearing loss, resutling from obstruction of eustachian tube (child is uslaly mouth breather and snores during sleep)
- if extreme may cause sleep apnea, speech ahs nasal quality
- diagnosis is visualized on lateral pharyngeal radiographs or with nasopharyngoscopic exam
- treatment - adenoidectomy is indicated for obstructive adenoids with recurrent otitis media or chronic serous otitis media with conductive hearing loss
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What is Lead poisoning?
- lead poisoning is an environmentally caused blood toxicitity resulting from ignestion or inspiration of lead dust or particles
- s/s r loss of appetitie, vomiting, irrib=tablity and ataxic gait, anemia, weakness, colic and peripherial neuritis, intellectual developmental disorder, encehpalopathy w/ vomiting, headache, stupor, convulsion and coma resutling from cerebral edema
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how to diagnose and treat lead poisoning?
diagnose - history of lead exposure, rpesence of symptoms previosuly listed, blood testes reveal anemia and a blood lead level greater tha n5, lead excretion through urine, characterisitc changes in ends of grows bones r noted on radiographs
treatment - elimiated source of poisoning, remove lead by giving substances knowns as chelating agents that tie up lead in chemically inactive form in blood stream while transported to kdieny for elimiaton, antiemetics to help control N&V, sedation for volsuons, after acute therapy, penicillamine (chelating agent for lead) is given orally for 3-6 months
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What is Reye syndrome?
- combination of brain disease and fatty invasion of inner organs, esp liver
- acute, often fatal illnes that affect children throgugh age 15
- disruption in urea cycle that causes selling of brain , rsutling in increased intracranial presure
- children who begin vomiting 3-6 days after viral illness r possible canidates
- linked to use of aspirin during infection
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s/s of reye syndrome
s/s progress through 5 stages
1) lethargy, listlessness, irritability, combativeness, vomting and hepatic dysfunction
2) hyperventilation, hyperactive reflexes, hepatic dysfunction, disoriendtation, convulsions and delirium
3) organ chagnes and coma
4) deeper coma nad loss of cerebnral functions
5) seizures, loss of deep tendon reflexes and respiroatry arrest
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how t odaignose and treat reye syndrome?
diagnose - med histroy, pt clinical feature, lab blood studes for elevated serum ammonia levels, elevated enzyme levels, other test include liver biopsy and CSF analysis
treatment - ealry recignition and treatment - recduced mortality from 90% to 20% (early managemnet involves hospitalization to stablilizate pt, control cerebral edema, monitor blood chemistires, manage seizures, provide mechanical ventilizaion)
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What is Fetal Alcohol syndrome?
- describes birth defects and other associated problems in infatns born to women who consume alc during pregnancy
- caused when alcohol enters fetal blood as aresult of chronic, escessive use of alcohol by mother durign pregancny
- diagnose w/ typical clinical features and maternal history of chronic alcoholism
- treat based on defects, much is supprotive bc neurologic damage isn't reversable, proper nutrion, special adaption bc baby mau have poor sucking reflex
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s/s of fetal alcohol syndrome?
intraurterine exposure to sufficient levels of alc has been asscoaited w/ fetal delayed growth includin
infants r short,
below abg in wt,
smaller eye openings,
eyes spaced widely apart
thin upper lip
CNS problems
grwoth deficiencies
heart efects, including ASD and VSD,
intellectual developmental disorder
, learning difficulties
decreased attention span and memory
visual and auditory problems
communication difficulties
poor development of social skills
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What is diaper rash?
- contact dermatitis, evident in diaper area as irritation or rash
- mild to severe, self-limiting or chronic source of discomfort, can be from mild excoriation or maculopapular rash to blisters and ulceration
- infants w/ sensitive skin seem to have hereditary perdispostiion to diaper rash
- may be triggered by friciton, prologned exposure to moisutre, feces, or ammonia prodcued by bacterial action on urine, poorly washed or rinsed diapers, use of occlusive plastic pants over diapers may contripute
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how to diagnose and treat dipaer rash?
diagnose - need to differntiate diaper rash from seborrheic ermatitis, eczema, secondary skin infection
treat - frequent diaper changes, proper cleaning and drying of diaper area, bland protetive agent such as zinc oxide or hydrated petrolatum, allow infant to remain w/o diaper, topical antimicrovial agents r used for secondary skin infection, cloth dipaers should be rinsed of irritating residue
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What is neuroblastoma?
- cancer of sympathetic nervous system
- 3rd most common childhood malignancy
- arises from primitive sympathetic ganglion cells
- can arise from any site w/ adrenal gland and abt eing most common
- s/s include abd mass, abd pain or fullness, anemia, bone pain, fever, hypertension, wt. loss, Periorbital ecchymosis (racoon eyes)
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how to diagnose and treat neuroblastoma
diagnose - measyre of urine and serum catecholamine levels as well as electrolytes and kidney and liver function. biopsy of mass, staging is down w/ bone marrow aspirate and bopsy, radionuclide bone scan, abd CT and chest radiography, chest and head CT
treat - for low-rsik tumors surgical removal is only treatment, for higher-stage tumors chemo w/ or w/o radiation therapy, for children w/ high-risk disease, high-dose chemo followed by autolooguys hematopoietic stem cell rescue may be beneficial
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prognosis of neuroblastoma?
- best indicators r younger age, localized, certain cytogenetic abn
- stage 4S includes children youngerthan 1 years of age with disseminated sidsease (this confers better prognosis bc these tumors may regress spontaneuosly w/o any therapy)
