PREVENTION OF AUTISM

1. PREVENTION OF AUTISM Dr. Sunil Kumar Gupta MBBS,MD,Ph.D,NDDY

2. Prevention • PRIMARY PREVENTION - preventing the development of the problem • SECONDARY PREVENTION - preventing the problem from causing disease, removing the cause • TERTIARY PREVENTION - preventing the problem from progressing and causing disability

3. Primary Prevention • Maternal Nutrition • Maternal Immunization • Avoidance of environmental teratogens • Maternal Disease Management • Pre-implantation diagnosis

4. Secondary Prevention • Pregnancy interruption after prenatal diagnosis • Inutero medical management of maternal disorders • Inutero surgical management

5. Tertiary Prevention • identification of inborn errors of metabolism • management of medical disorders • surgical management of birth defects

6. Primary Prevention- Maternal nutrition • Folic Acid 400 micrograms per day • Reduction in non syndromic cleft lip/palate more controversial • Reduction in cardiovascular malformations especially outflow tract malformations • Decreased incidence of urinary tract abnormality • Decreased risk of imperforate anus Berry et al. NEJM 341:1485, 1999

7. Primary Prevention- Maternal nutrition • Iodine - requirement of >20 microgram per day to prevent maternal iodine deficiency and cretinism in the fetus. 100-200 microgram/day recommended for supplementation • Zinc - 15 mg/day suggested daily requirement - important in neural development

8. Primary Prevention- Maternal Immunization prevention of primary infection during pregnancy • Rubella - cataracts, deafness, pulmonary stenosis, learning handicaps • Varicella - 1st trimester contractures, skin scars, limb reduction, mental retardation, seizures • Mumps - congenital deafness

9. Primary Prevention- Avoidance of teratogens • Drugs - cocaine, alcohol, tobacco, toluene • Medications - accutane, seizure medications, ACE inhibitors, coumadin, aminopterin, methotrexate, penicillamine, misoprostol, thalidomide • Viruses - cytomegalovirus, parvo B19, HIV • Syphilis, toxoplasmosis, malaria • Ionizing radiation, lead (tofu protective), organic methylmercury, PCBs

10. Primary Prevention- Maternal Disease Management • Diabetes 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 risk • Risk for single and multiple malformations and overgrowth with cardiomyopathy

11. Primary Prevention- Maternal Disease Management • Phenylketonuria - 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 treatment for hypothyroidism • Hypertension - Chronic hypertension, PIH, pre-eclampsia, eclampsia: may reflect placental disease

12. Primary Prevention-Early Diagnosis • Pre-implantation Diagnosis - expensive and highly sophisticated • Single cell DNA amplification with PCR and diagnostic testing of specific gene • Karyotype • Implantation of blastocysts found to be unaffected

13. Secondary Prevention- Diagnose Maternal Disease and treat • Diagnose maternal disorders and treat • Maternal triple marker screening for detection of neural tube defects, abdominal wall defects, nephrosis, Tri 21, Tri 18 • Ultrasound for structural abnormalities • Amniocentesis to confirm chromosomal, DNA diagnosable, or metabolic conditions • Termination or management

14. Secondary Prevention- Diagnose Maternal Disease and treat • Test for maternal infections and treat with antibiotics, antiviral, antimalarial agents • Monitor for preterm labor and use corticosteroids for pulmonary maturation when premature delivery imminent

15. Secondary Prevention- Diagnose Maternal Disease and treat • Maternal autoimmune disorders identify and treat Rh isoimmunization Platelet isoimmunization Antiphospholipid antibody Graves Disease Myasthenia Gravis

16. Secondary Prevention • Maternal 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

17. Secondary Prevention • Maternal Platelet Isoimmunization recognition after a prior affected infant Mother lack antigen, father is either homozygous or heterozygous for the antigen • Fetus is antigen positive -> inutero thrombocytopenia and bleeding • Rx - maternal IVIG, ? Fetal IVIG

18. Secondary Prevention • Antiphospholipid antibodies - Anticardiolipin/ 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 IUGR

19. Secondary Prevention • Graves Disease Thyrotoxicosis in the mother treatment of mother with PTU - 1-5% of infants -> hypothyroidism Transfer of thyroid stimulating immunoglobulin to the fetus - > neonatal thyrotoxicosis -rx Lugol’s and beta blocker

20. Secondary Prevention • Maternal Myasthenia Gravis IgG against nicotinic acetylcholine receptors rare joint contractures in the fetus or neonatal myasthenia 2-4 weeks Avoid magnesium sulfate Follow mother post delivery

21. Secondary Prevention • Maternal Serum Screening AFP - open body defects = neural tube defects, gastroschisis, limb-body wall - offer ultrasound and amnio • Estriol and HCG along with AFP for risk for Down syndrome and trisomy 18 if increased risk option for ultrasound and amniocentesis • Low estriol also for cholesterol metabolism defects and steroid sulfatase deficiency

22. Secondary Prevention - surgical management • Renal Obstruction - catheter placement • Hydrothorax -laparoscopic catheter placement • Inutero surgery for cystic adenomatoid malformation • Ligation or cautery of placental shunts in monozygotic twins • Cesarean section for maternal herpes

23. Tertiary Prevention • Identification and management of medical disorders • Physical Examination - minor and major malformations - further studies as appropriate • Screening for inborn errors of metabolism, thyroid function • Audiology testing/vision screening • vitamin k at birth, immunizations after birth

24. Tertiary Prevention • Newborn screening • Galactosemia - avoidance of galactose formulas • amino/organic acid disorders - appropriate metabolic management - formulas, carnitine, vitamins when responsive, betaine • hypothyroidism - synthroid • others - fatty acid oxidation defects - frequent feeds, avoid fasting

25. Tertiary Prevention • Surgical management of birth defects • Neural Tube defects - repair of defect, ventricular shunting • Cleft lip/palate - repair of cleft, management of middle ear disease • Congenital Heart defects - medical management until surgery is available • Recognition of lethal disorders for which aggressive care is inappropriate

26. First Steps • IDENTIFY THE AREAS OF NEED - ESTABLISH REGISTRIES • MATERNAL IMMUNIZATION • PRENATAL VITAMINS PRIOR TO CONCEPTION (by 8 weeks it has happened) • PRENATAL CARE OF MEDICAL PROBLEMS

27. Section 2 • Maintenance of Health Through Good Nutrition

28. Objectives • State the effect inadequate nutrition has on an infant • Identify the ingredients used in infant formulas • Describe when and how foods are introduced into the baby’s diet • Describe inborn errors of metabolism and their dietary treatment

29. Nutritional Requirements of the Infant • During 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.

30. Nutritional Requirements of the Infant • Iron-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.

31. Breastfeeding • Provides infant with temporary immunity to many infectious diseases. • It is economical, nutritionally adequate, and sterile.

32. Breastfeeding • Easily digested • Breastfed infants grow more rapidly during the first few months of life than formula-fed babies and have fewer infections.

33. Breastfeeding • Breast 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.

34. Breastfeeding • Indications of adequate nutrition include: • The infant 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.

35. Bottle Feeding • The infant should be cuddled and held in an upright position. • He should be burped. • 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.

36. Burping a Baby

37. Bottle Feeding • Sterile water must be used to mix formula. • Infants under one year should not be given cow’s milk. • Consistent temperature should be used. • Infants should not be put to bed with bottle.

38. Supplementary Foods • Limit diet to breast milk or formula until the age of 4 to 6 months. • Cow’s milk should be avoided until after one year of age. • Solid foods should not be introduced before 4 to 6 months of age and should be done gradually.

39. Supplementary Foods • The typical order of introduction begins with cereal, usually iron-fortified rice, then oat, wheat, and mixed cereals. • Cooked and pureed vegetables follow, then cooked and pureed fruits, egg yolk, and finally, finely ground meats.

40. Supplementary Foods • Between 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 with Clostridium botulinum bacteria.

41. Supplementary Foods • When 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.

42. Supplementary Foods • Pasteurized apple juice is usually given first. • It is recommended that only 4 oz. of 100% juice products be given because they are nutrient-dense.

43. Indications for Readiness for Solid Foods • Ability to pull food into the mouth rather than pushing the tongue and food out of the mouth. • Willingness to participate in the process. • Ability to sit up without support.

44. Indications for Readiness for Solid Foods • Having head and neck control. • The need for additional nutrients. • Drinking more than 32 ounces of formula or nursing 8 to 10 times in 24 hours.

45. Special Nutritional Needs • Premature infants • Cystic Fibrosis • Failure to thrive • Metabolic Disorders • Galactosemia • Phenylketonuria • Maple Syrup Urine Disease

46. Premature Infants • An infant born before 37 weeks gestation. • The sucking reflex is not developed until 34 weeks gestation. Infants born earlier will require total parenteral nutrition, tube feedings, or bolus feedings.

47. Premature Infants • Other concerns include: low birth weight, underdeveloped lungs, immature GI tracts, inadequate bone mineralization, and lack of fat reserves. • Many special formulas are available.

48. Cystic Fibrosis • An inherited disease • Decreased production of digestive enzymes • Malabsorption of fat • Recommendation: 35-40% of diet should be from fat

49. Cystic Fibrosis • Digestive enzyme 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.

50. Failure to Thrive • Determined by plotting the height and 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.