Biochemical/metabolicTypically a genetic disorder, where patient cant metabolize something in the diet, this creates a toxicity in the brain which travels to the brain and essentially corrodes the brain, cause retardationCarbohydrate MetabolismGalactosemia1 in 60 birth, mortality 75% without treatmentInability to metabolize galactoseNot always retardedCant be breast fedRecessive geneDiscovered in 1917Fat metabolismTay-Sachs DiseaseCant metabolize fatRecessive geneAlmost totally restricted to European JewsDevelop normally early onBlindDeafMuscular atrophyTumorsNo treatment and usually die between ages 2-5Samantha Herrscher (21 months)Late onset tay-sachs LOTSTeens to mid-30’sProtein MetabolismPhenylketonuria (PKU)Recessive gene disorder, 1 in 50,000Follings disease (Norway, 1934)Funny smell to urine in 2 MR childrenCan be found using a blood testLofenalacDietary restrictionsSugar free Kool-aidStrictly off LimitsBreast milkMeatNutsIce creamAspartameChickenFishCheese/dairyLegumesRegular flourConsumed but monitoredPotatoesPastaBreadCornPKU tests are given at birth and the 6 weeks check upCornelia De Lange SyndromeCause unknown, occurs on #3 chromosomeLesch-Nyhan Syndrome(LNS)Rare genetic Disorder, 1964Overproduction of uric acidOrange crystals found in the diaperPrenatal hazardsHigh fever diseases pregnancyDrug/alcohol abuseChronic diseasesRadiationPsycho-tropics ThalidomideDeveloped in Europe 35 yrs. ago.Widely used in England and GermanyDeveloped for morning sicknessAfter a break of 30 yrs. thalidomide as resurfaced in south America to treat auto-immune diseasesThose who are on the drug are asked to get off the drug 1 yrs. prior to getting pregnant, so that when the baby is born the mother will be 2 yrs. thalidomide freeHazards at birthPrematurityToo rapid/ prolonged laborUmbilical cord accidentsTransverse/breechForceps injuriesPlacenta previaLecture 13Outline of Last Lecture I. Mental Retardation Cont.a. Etiology i. Sociocultural 1. Factorsii. Genetic Chromosomal1. Theories 2. Prenatal Detection Outline of Current Lecture II. Causes of Mental Retardation Cont.a. Biomedical/ metabolici. Carbohydrate Metabolismii. Fat Metabolism 1. Tay-Sachs Diseaseiii. Protein Metabolism 1. Phenylketonuria (PKU)2. Cornelia De Lange Syndrome3. Lesch-Nyhan Syndrome (LNS)b. Prenatal Hazardsc. Hazards at BirthCurrent Lecture- Biochemical/metabolico Typically a genetic disorder, where patient cant metabolize something in the diet, this creates a toxicity in the brain which travels to the brain and essentially corrodes the brain, cause retardation  Carbohydrate Metabolism Galactosemia- 1 in 60 birth, mortality 75% without treatment- Inability to metabolize galactose - Not always retarded- Cant be breast fed- Recessive gene- Discovered in 1917PSYC 306 1st Edition Fat metabolism Tay-Sachs Disease- Cant metabolize fat- Recessive gene- Almost totally restricted to European Jews Develop normally early on- Blind- Deaf- Muscular atrophy- Tumors No treatment and usually die between ages 2-5 - Samantha Herrscher (21 months) Late onset tay-sachs LOTS - Teens to mid-30’s Protein Metabolism Phenylketonuria (PKU) Recessive gene disorder, 1 in 50,000 Follings disease (Norway, 1934) Funny smell to urine in 2 MR children Can be found using a blood test- Lofenalac Dietary restrictions- Sugar free Kool-aid Strictly off Limits- Breast milk- Meat- Nuts- Ice cream- Aspartame- Chicken- Fish- Cheese/dairy- Legumes- Regular flour Consumed but monitored- Potatoes- Pasta- Bread- Corn PKU tests are given at birth and the 6 weeks check up Cornelia De Lange Syndrome- Cause unknown, occurs on #3 chromosome Lesch-Nyhan Syndrome(LNS)- Rare genetic Disorder, 1964These notes represent a detailed interpretation of the professor’s lecture. GradeBuddy is best used as a supplement to your own notes, not as a substitute.- Overproduction of uric acid- Orange crystals found in the diaper- Prenatal hazardso High fever diseases pregnancyo Drug/alcohol abuseo Chronic diseaseso Radiationo Psycho-tropics Thalidomide Developed in Europe 35 yrs. ago.  Widely used in England and Germany Developed for morning sickness  After a break of 30 yrs. thalidomide as resurfaced in south America to treat auto-immune diseases Those who are on the drug are asked to get off the drug 1 yrs.prior to getting pregnant, so that when the baby is born the mother will be 2 yrs. thalidomide free- Hazards at birtho Prematurityo Too rapid/ prolonged laboro Umbilical cord accidentso Transverse/breecho Forceps injuries o Placenta