1、PREVENTION OF DISORDERS OF CHILDREN BEFORE BIRTHPREVENTION OF DISORDERS OF CHIPrevention of Disorders of Children Before BirthPRIMARY PREVENTION - preventing the development of the problemSecondary prevention - preventing the problem from causing disease, removing the causeTertiary prevention - prev

2、enting the problem from progressing and causing disabilityPrevention of Disorders of ChiPrevention of Disorders of Children Before BirthPrimary Prevention The plumber, the grocer, the politician, the doctorMaternal NutritionMaternal ImmunizationAvoidance of environmental teratogensMaternal Disease M

3、anagementPre-implantation diagnosisPrevention of Disorders of ChiPrevention of Disorders of Children Before BirthSecondary preventionPregnancy interruption after prenatal diagnosisInutero medical management of maternal disordersInutero surgical managementPrevention of Disorders of ChiPrevention of D

4、isorders of Children Before BirthTertiary preventionidentification of inborn errors of metabolismmanagement of medical disorderssurgical management of birth defects Prevention of Disorders of ChiPrimary PreventionMaternal nutritionFolic Acid 400 micrograms per dayneural tube defects 1965 Hibbard and

5、 SmithellsNorthern China 6 per 1000 live births with NTDBerry et al. NEJM 341:1485, 1999 130,142 women who took folic acid117,689 women who did not take folic acid1/1000 NTD affected in the North with folic acid4.8/1000 NTD affected in the North without folic acid 0.6/1000 NTD affected in the South

6、with folic acid1/1000 NTD affected in the South without folic acidPrimary PreventionMaternal nutPrimary PreventionMaternal NutritionFolic AcidReduction in non syndromic cleft lip/palate more controversialReduction in cardiovascular malformations especially outflow tract malformations Decreased incid

7、ence of urinary tract abnormalityDecreased risk of imperforate anus in China RR .59adult benefits - cardiovascular, cancer, AlzheimersPrimary PreventionMaternal NutPrimary PreventionMaternal NutritionIodine - requirement of 20 microgram per day to prevent maternal iodine deficiency and cretinism in

8、the fetus. 100-200 microgram/dayrecommended for supplementationZinc - 15 mg/day suggested daily requirement - important in neural developmentPrimary PreventionMaternal NutPrimary PreventionMaternal Immunization - prevention of primary infection during pregnancyRubella - cataracts, deafness, pulmonar

9、y stenosis, learning handicapsVaricella - 1st trimester contractures, skin scars, limb reduction, mental retardation, seizuresMumps - congenital deafnessPrimary PreventionMaternal ImmPrimary PreventionAvoidance of teratogensDrugs - cocaine, alcohol, tobacco, tolueneMedications - accutane, seizure me

10、dications, ACE inhibitors, coumadin, aminopterin, methotrexate, penicillamine, misoprostol, thalidomideViruses - cytomegalovirus, parvo B19, HIVSyphilis, toxoplasmosis, malariaIonizing radiation, lead (tofu protective), organic methylmercury, PCBsPrimary PreventionAvoidance ofPrimary PreventionMater

11、nal Disease ManagementDiabetes Mellitus - establish control prior to pregnancy as well as during the pregnancy with preconceptural care 2% birth defects risk, lowered with addition of folic acid without preconceptual care 6-7% birth defects riskRisk for single and multiple malformations and overgrow

12、th with cardiomyopathyPrimary PreventionMaternal DisPrimary PreventionPhenylketonuria - fetal brain and heart defects maternal diet to keep phenylalanine level below 20 mg/dL Hypothyroidism - fetal brain development iodine supplementation in endemic areas (RDA 175 micrograms in preg.), synthroid tre

13、atment for hypothyroidism Hypertension - Chronic hypertension, PIH, pre-eclampsia, eclampsia: may reflect placental diseasePrimary PreventionPhenylketonuPrimary PreventionPre-implantation Diagnosis - expensive and highly sophisticatedSingle cell DNA amplification with PCR and diagnostic testing of s

14、pecific geneKaryotype Implantation of blastocysts found to be unaffectedPrimary PreventionPre-implantaSecondary PreventionDiagnose maternal disorders and treatMaternal triple marker screening for detection of neural tube defects, abdominal wall defects, nephrosis, Tri 21, Tri 18Ultrasound for struct

15、ural abnormalitiesAmniocentesis to confirm chromosomal, DNA diagnosable, or metabolic conditionsTermination or managementSecondary PreventionDiagnose mSecondary Prevention Test for maternal infections and treat with antibiotics, antiviral, antimalarial agents Monitor for preterm labor and use cortic

16、osteroids for pulmonary maturation when premature delivery imminentSecondary Prevention Test forSecondary PreventionMaternal autoimmune disorders identify and treatRh isoimmunizationPlatelet isoimmunizationAntiphospholipid antibodyGraves DiseaseMyasthenia GravisSecondary PreventionMaternal aSecondar

17、y PreventionMaternal Rh Isoimmunization Prevention by identifying couples at risk and using Rhogam post delivery. For sensitized women, amniocentesis to monitor the fetus and transfuse when appropriate Secondary PreventionMaternal RSecondary PreventionMaternal Platelet Isoimmunization recognition af

18、ter a prior affected infant Mother lack antigen, father is either homozygous or heterozygous for the antigen Fetus is antigen positive - inutero thrombocytopenia and bleedingRx - maternal IVIG, ? Fetal IVIGSecondary PreventionMaternal PSecondary PreventionAntiphospholipid antibodies - Anticardiolipi

19、n/ lupus anticoagulant Maternal history of recurrent fetal loss aspirin and heparin (in women with a history of repeated fetal loss)increase in preterm birth and IUGRSecondary PreventionAntiphosphSecondary PreventionGraves Disease Thyrotoxicosis in the mother treatment of mother with PTU - 1-5% of i

20、nfants - hypothyroidismTransfer of thyroid stimulating immunoglobulin to the fetus - neonatal thyrotoxicosis -rx Lugols and beta blockerSecondary PreventionGraves DisSecondary PreventionMaternal Myasthenia GravisIgG against nicotinic acetylcholine receptorsrare joint contractures in the fetus or neo

21、natal myasthenia 2-4 weeksAvoid magnesium sulfateFollow mother post delivery Secondary PreventionMaternal MSecondary PreventionMaternal Serum Screening AFP - open body defects = neural tube defects, gastroschisis, limb-body wall - offer ultrasound and amnioEstriol and HCG along with AFP for risk for

22、Down syndrome and trisomy 18 if increasedrisk option for ultrasound and amniocentesisLow estriol also for cholesterol metabolism defects and steroid sulfatase deficiencySecondary PreventionMaternal SSecondary Prevention - surgical managementRenal Obstruction - catheter placementHydrothorax -laparosc

23、opic catheter placementInutero surgery for cystic adenomatoid malformationLigation or cautery of placental shunts in monozygotic twinsCesarean section for maternal herpesSecondary Prevention - surgicaTertiary PreventionIdentification and management of medical disordersPhysical Examination - minor an

24、d major malformations - further studies as appropriateScreening for inborn errors of metabolism, thyroid functionAudiology testing/vision screening vitamin k at birth, immunizations after birthTertiary PreventionIdentificatTertiary PreventionNewborn screeningGalactosemia - avoidance of galactose for

25、mulasamino/organic acid disorders - appropriate metabolic management - formulas, carnitine, vitamins when responsive, betainehypothyroidism - synthroidothers - fatty acid oxidation defects - frequent feeds, avoid fasting Tertiary PreventionNewborn scrTertiary PreventionSurgical management of birth d

26、efectsNeural Tube defects - repair of defect, ventricular shuntingCleft lip/palate - repair of cleft, management of middle ear diseaseCongenital Heart defects - medical management until surgery is availableRecognition of lethal disorders for which aggressive care is inappropriateTertiary PreventionS

27、urgical maFirst StepsIDENTIFY THE AREAS OF NEED - ESTABLISH REGISTRIESMATERNAL IMMUNIZATIONPRENATAL VITAMINS PRIOR TO CONCEPTION (by 8 weeks it has happened)PRENATAL CARE OF MEDICAL PROBLEMSFirst StepsIDENTIFY THE AREAS Section 2Maintenance of Health Through Good NutritionSection 2Maintenance of Hea

28、lthObjectivesState the effect inadequate nutrition has on an infantIdentify the ingredients used in infant formulasDescribe when and how foods are introduced into the babys dietDescribe inborn errors of metabolism and their dietary treatmentObjectivesState the effect inaNutritional Requirements of t

29、he InfantDuring the first year, the normal child needs about 100 kcal per kilogram of body weight each day.Infants up to 6 months of age should have 2.2 g of protein per kg of weight each day; age 6-12 months should have 1.56 g of protein per kg of weight each day.Nutritional Requirements of thNutri

30、tional Requirements of the InfantIron-fortified cereal is usually started at about 6 months.A vitamin K supplement is routinely given shortly after birth.Infants should not be given an excess of vitamin A or D.Nutritional Requirements of thBreastfeedingProvides infant with temporary immunity to many

31、 infectious diseases.It is economical, nutritionally adequate, and sterile.BreastfeedingProvides infant wBreastfeedingEasily digestedBreastfed infants grow more rapidly during the first few months of life than formula-fed babies and have fewer infections.BreastfeedingEasily digestedBreastfeedingBrea

32、st should be offered every 2 hours in the first few weeks.The infant should nurse 10-15min on each breast.Growth spurts occur at about 10 days, 2 weeks, 6 weeks, and 3 months; infant may nurse more frequently. BreastfeedingBreast should be BreastfeedingIndications of adequate nutrition include:The i

33、nfant has six or more wet diapers per day.The infant has normal growth.The infant has one or two mustard-colored bowel movements per day.The breast becomes soft during nursing.BreastfeedingIndications of adBottle FeedingThe infant should be cuddled and held in an upright position.He should be burped

34、.Formulas are developed so that they are similar to human milk in nutrient and kcal values.Synthetic milk made from soybeans may be used for sensitive or allergic infants.Bottle FeedingThe infant shoulBurping a BabyBurping a BabyBottle FeedingSterile water must be used to mix formula.Infants under o

35、ne year should not be given cows milk.Consistent temperature should be used.Infants should not be put to bed with bottle.Bottle FeedingSterile water muSupplementary FoodsLimit diet to breast milk or formula until the age of 4 to 6 months.Cows milk should be avoided until after one year of age.Solid

36、foods should not be introduced before 4 to 6 months of age and should be done gradually.Supplementary FoodsLimit diet Supplementary FoodsThe typical order of introduction begins with cereal, usually iron-fortified rice, then oat, wheat, and mixed cereals.Cooked and pureed vegetables follow, then coo

37、ked and pureed fruits, egg yolk, and finally, finely ground meats.Supplementary FoodsThe typicalSupplementary FoodsBetween 6 and 12 months, toast, zwieback, teething biscuits, custards, puddings, and ice cream can be added.Honey should never be given to an infant because it could be contaminated wit

38、h Clostridium botulinum bacteria.Supplementary FoodsBetween 6 aSupplementary FoodsWhen the infant learns to drink from a cup, juice can be introduced.Juice should never be given from a bottle because babies will fill up on it and not get enough calories from other sources.Supplementary FoodsWhen the

39、 inSupplementary FoodsPasteurized apple juice is usually given first.It is recommended that only 4 oz. of 100% juice products be given because they are nutrient-dense.Supplementary FoodsPasteurizedIndications for Readiness for Solid FoodsAbility to pull food into the mouth rather than pushing the to

40、ngue and food out of the mouth.Willingness to participate in the process.Ability to sit up without support.Indications for Readiness for Indications for Readiness for Solid FoodsHaving head and neck control.The need for additional nutrients.Drinking more than 32 ounces of formula or nursing 8 to 10

41、times in 24 hours.Indications for Readiness for Special Nutritional NeedsPremature infantsCystic FibrosisFailure to thriveMetabolic DisordersGalactosemiaPhenylketonuriaMaple Syrup Urine DiseaseSpecial Nutritional NeedsPremaPremature InfantsAn infant born before 37 weeks gestation.The sucking reflex

42、is not developed until 34 weeks gestation. Infants born earlier will require total parenteral nutrition, tube feedings, or bolus feedings.Premature InfantsAn infant borPremature InfantsOther concerns include: low birth weight, underdeveloped lungs, immature GI tracts, inadequate bone mineralization,

43、 and lack of fat reserves.Many special formulas are available.Premature InfantsOther concernCystic FibrosisAn inherited disease Decreased production of digestive enzymesMalabsorption of fatRecommendation: 35-40% of diet should be from fatCystic FibrosisAn inherited diCystic FibrosisDigestive enzyme

44、is taken in pill form.There is a water-soluble form of fat-soluble vitamins that can be administered if normal levels cannot be maintained with the use of fat-soluble vitamins. Nighttime tube feedings may be indicated.Cystic FibrosisDigestive enzymFailure to ThriveDetermined by plotting the height a

45、nd weight of the infant on the growth chart.May be caused by poverty, congenital abnormalities, AIDS, lack of bonding, child abuse, or neglect.The first six months are the most crucial for brain development.Failure to ThriveDetermined byGalactosemiaA condition in which there is a lack of the liver e

46、nzyme transferase.Transferase normally converts galactose to glucose.The amount of galactose in the blood becomes toxic.GalactosemiaA condition in whiGalactosemiaDiarrhea, vomiting, edema, and abnormal liver functionCataracts may develop, galactosuria occurs, and mental retardation develops.Diet therapy: exclusion of anything containing milk from any mammal; nutritional supplements of calcium, vitamin D, and riboflavin.GalactosemiaDiarrhea, vomitingPhenylketonuria (PKU)L