ࡱ> MOL@ 3$bjbjFF DB,,36666666,:<$ R]!6ooo66}}}o 66}o}}66Dv pJqGy 0,!!D6666!6DT"}$s ALTE/SIDS/CYSTIC Fibrosis In an infant, apnea < 15 seconds may be considered normal. Periodic breathing is 3 or more pauses? 3 seconds with ad duration of < 20 seconds between pauses Apparent Life Threatening Event (ALTE) Definition: an episode that is frightening to the observer and is characterized by some combination of apnea, color change, change in muscle tone, choking or gagging. Sometimes the observer fears infant has died ALTE is not a diagnosis, but a description of an event Incidence Incidence of ALTE on the US is 0.5-6% 5-10% of infants who die of SIDS had a previous ALTE Infants who have survived an ALTE have a 1% subsequent risk of SIDS Possible Causes of ALTE Central apnea Seizures Sepsis Meningitis Child abuse Periodic breathing Obstructive apnea GER Cardiac arrhythmia URI Asthma/bronchiolitis Munchhausen syndrome by proxy Important Questions to Ask Parent/Caregiver Length of event State of consciousness of the infant Associated color change Change in muscle tone Any recent illness History of Prematurity Relation of feeding to timing of event Choking, gagging prior to event Was any intervention necessary Is this the first episode Were there any other witnesses to the event Any medications infant may have been given Siblings with previous ALTE/SIDS Physical Exam Usually when infant arrives in ED or healthcare providers office, patient has already been resuscitated and appears well A complete head to toe physical exam is required Patient must be placed on a cardiopulmonary monitor Further Management CBC, basic metabolic panel, UA, CXR, EKG should be routinely performed on all patients If infant appears ill, blood cultures, spinal tap, toxicology screen and further workup should be done if necessary Patients are usually admitted for 24 hours for cardiopulmonary monitoring Home Apnea Monitors National institutes of Health (NIH) issued a consensus statement in 1986 regarding the use of home cardiopulmonary monitors Infant with 1 or more ALTE requiring resuscitation or vigorous stimulation Infant with 2 or more siblings who expired from SIDS Infants with central hypoventilation Other infants with ALTE on a case to case basis Home Monitoring According to the NIH guidelines, routine monitoring of asymptomatic preterm infants is not warranted Important to make parents understand that home monitoring does not guarantee protection against SIDS Home monitoring can be discontinued after 2-3 months without alarms or apneic episodes Sudden Infant Death Syndrome (SIDS) Definition: sudden death of an infant under 1 year of age that remains unexplained after a thorough case investigation, including the performance of a complete autopsy, examination of the death scene and a review of the clinical history SIDS is a diagnosis of exclusion Autopsy must be done to R/O other causes of death- meningitis, myocarditis, intracranial hemorrhage, child abuse Incidence 0.77/1000 live births in US The incidence is increased among African Americans Males more affected more than females 5% of SIDS deaths occur in the 1st month of life 60% by 3 months of life 85% by 6 months of life SIDS Investigating a case of SIDS involved not only an autopsy and death scene investigation but also an extensive questioning of witnesses and family members Must proceed with caution and not allow familys emotional response alter your objectivity Must rule out homicide/child abuse Questions to Ask When was last meal Any recent illnesses How was infant prior to going to sleep Previous history of ALTE Siblings with history of SIDS Risk Factors Maternal smoking Prolonged QT interval- risk for V-fib. Bed sharing Apnea Poor prenatal care Multiple births Low 5 minute APGAR- <7 Prone sleeping Winter time Mother <20 y.o. Previous ALTE Soft ALTE Anemia Low socioeconomic class Anticipatory Guidance Firm bedding- no stuffed animals Sleeping supine Breast feeding Good prenatal care Keeps infant environment smoke free Cystic Fibrosis (CF) The most common lethal genetic disease of Caucasians- 1/3500 Caucasian births, 1/17,000 African American births; mostly people of northern or central European descent Autosomal recessive mode of transmission Main characteristics of disease are Pulmonary infection Pancreatic insufficiency Increased sodium loss through sweat Male infertility Pathogenesis CF results from a defect in a gene on the long arm of chromosome 7 Defect in protein product of cystic fibrosis transmembrane conductance regulator (CFTR) Airway, GI tract, sweat glands, and GU system This defect causes abnormal electrolyte transport which leads to the buildup of thick secretions- occur in airway, pancreas, liver, intestines, and reproductive tract Abnormal transport of sodium and chloride Signs and Symptoms Chronic cough, recurrent pulmonary infections Steatorrhea- frequent foul smelling bulky stools Failure to thrive- delayed milestones (malnutrition) Salty taste to skin Meconium ileus Diagnosis Now part of NYS Newborn screen However, many false positives Must confirm with sweat chloride test Sweat chloride test Should be done at a CF center to avoid erroneous results Sweat chloride levels >60meq/L in the presence of signs and symptoms of CF confirms the diagnosis Pulmonary Manifestations Chronic bronchopulmonary infection leads to progressive lung damage, lung dysfunction and death Most common lung pathogens are staphylococcus aureus and pseudomonas aeuruginosa (new etiology-burcholdia cepacia) Recurrent respiratory tract infects leads to chronic cough, Bronchiectasis, hemoptysis and clubbing Nasal polyps Gastrointestinal Manifestations 85-90% of patients have pancreatic exocrine deficiency Dehydrated pancreatic secretions lead to pancreatic duct obstruction and poor secretion of digestive enzymes- leads to steatorrhea and FTT because they are not able to digest fat Malabsorption of fat and fat soluble vitamins- vitamin A, D, E, and K Leads to frequent, bulky foul smelling stools Pancreatic fibrosis leads to glucose intolerance and DM Meconium ileus Other Manifestations 98% of males with CF are sterile- obstruction of vas deferens Decreased fertility in females- thickened cervical mucus Management Nutritionist, pulmonologist, respiratory therapist, and geneticist Once patient is diagnosed with CF, siblings should be tested If result is negative, still a 2/3 risk of being a carrier All patients diagnosed with CF need to be followed by their general pediatrician and at a CF center Treatment Pulmonary manifestations treated with: Chest physiotherapy Dornase alfa (Pulmozyme) via nebulizer to help clear secretions Also may need albuterol Prophylactic antibiotics control progression of lung disease Antibiotics are aimed at P. aeuruginosa (fluoroquinolones, bactrim, augmentin) Gastrointestinal manifestations treated with Replacement therapy with pancreatic enzymes in the form of enteric coated microspheres Enzymes taken with meals and snacks Supplementation if vitamins A, D, E, and K Importance of a diet with sufficient calories and protein cannot be over emphasized The Future As of now, the median age of survival for a patient with CF is 29 Future treatment and possibly a cure hopefully lies in gene replacement therapy    N O T U   6 7 V W u v    ^_1-.RS\]h@f hW5 hWhY4hWhY4hY45hY4 h@fh@f hY45S  O   ! 6 T U  & FgdY4 & FgdY4$a$gdY43$  7 W v   _1 & FgdY4 & FgdY4 & FgdY4.S]Wa} !9>3Vgh & FgdW & FgdW & FgdVp & FgdY4 & FgdY4 & FgdY4VWa|}  !89>23UVghz{ 45@AFGYZijpv|h!X h={5h={hWhWH* hW5hhWhW5hW hVp5hVphY45Oh{5AGZj,; & FgdVp & FgdW+,:;MNqr-.VWz{,-YZ ,-@AOPQ[yz  lmνεε꽵꽵 hd5hdhd5hd h85h!Xh85h8h8h!X5h!XhW5h!Xhs hVp5 hW5hWhW5hWE;Nr.W{-Z-A & F  ^ `gd8 & Fgdd & Fgd8 & FgdW & FgdVp & FgdWAPQ[z mY!H & Fgdd & Fgdd & FgdVp & F `gd8 & F  ^ `gd86XY !GH   & h i D!E!O!X!t!u!v!!!!!!!""F"n"o"""""##A#B########2$޼hhy5hyhyh5hY, hA5 h5hh5hhA hVp5 hd5hdhd5hT3hdF & i E!O!v!!!!"o"""#B####3$ & Fgd & Fgd & FgdA & FgdVp & Fgd2$3$hY4h5&1h:pY4/ =!h"h#$%? 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