#5 Cri Du Chat Syndrome (cry of the cat syndrome)Piece of #5 missing#15 Prader-Willi SyndromeInstable appetite, obesityLissencephalyDiagnosed pre-maturely or at birth- 1/100,000May involve X Chromosome, #7, #17Prenatal viral infectionPoor blood supply to brain#18 Edwards (Trisomy 18 Syndrome)3 chromosomes on #181/6,000 live birthsHalf die in utero5-10% survive the 1st yearMicrocephaly#21 Down Syndrome (trisomy #21)Occurs in 1/800-1000 live Births (5500 per year in USA)90% of people terminate pregnancy when they’re told they’ll have a down syndrome childFertility is UnlikelyAverage Lifespan1912, 12 yrs.2012, 60 yrs.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 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 diaperHigh 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 freePrematurityToo rapid/ prolonged laborUmbilical cord accidentsTransverse/breechForceps injuriesPlacenta previaFalls/near drowningCarbon monoxide poisoningLead/mercury poisoningHigh fever diseasesEncephalitisMeningitisMacrocephalyHave an unusually large head (32 in circumference)Gilia multiply in numbers to cause the large headMicrocephalyUnusually small (16 in circumference)AKA “pinhead”Can be caused by high levels of radiation, but the official cause is unknownHydrocephalyBreak down in the ability to process spinal fluidShunt: tube placed in the brain that pumps off excess fluid, enables people to have a normal intelligence and lead normal livesPorencephalyRare condition in which fluid-filled hollows or cavities develop on the surface of the brain.Cavities usually form at sites where damage has been caused byInfection,Loss of blood flow,Stroke during brain development,But may also be genetic in originAnencephalyDoesn’t constitute any stats to mental retardationLive up to 48hrs after birthBorn without parts of the brain and skull. It is a type of neural tube defect. These are birth defects that happen during the first month of pregnancy, usually before a woman knows she is pregnant.Strongly linked to the Rio Grande Valley, suspicions due to pesticidesMajor intelligenceKennedy panel found that the US had borrowed a classification system form the BritishMoron (IQ 50-70)Imbecile (IQ 20-50)Idiots (0-20)New system of ClassificationMild Retarded: (IQ 50-70)90% of mentally retardedModerately Retarded: (IQ 35 -50)Mentally retarded and multiply handicapped (unable to speak or walk well)Severely Retarded (IQ 20- 35)Profound Retarded (IQ 0-20)Adaptive behavior: How well they adaptEducableCan be taught schooling from 3rd -7th grade by the age of 2175% of mentally retarded peopleTrainableTrainable through conditioning to learn self-help skills (everyday skills)20% of mentally retardedUn-trainableBrain damage is so severe they can’t be trainedAmbulatory: those who walkNon-ambulatory: those who are confined to beds5% of mentally retardedCauses (What caused mental retardation)Children are usually nauseated and cryingSymbol of failure of trying to succeed, rejection from peersChildren throw temper tantrums, show resistance, fighting back or aggressiveness, nausea1 out of 100 children will have school phobiaAlcohol2 billion people consume alcohol worldwideBinge-drinking: drinking more than 5 drinks in a single occasion24% of people over 11 binge-drink each month-mostly maleConsidered heavy drinkers, males outnumber females by more than 2 to 1 (8%-4%)Contains ethyl alcohol (chemical absorbed by the blood thru the lining of the stomach and intestines)Binds to the neurotransmitter GABA (carries the inhibitory messages)The effect of ethyl is determined by concentrationGender also affects concentrationFemales have a less of the stomach enzyme alcohol dehydrogenase (breaks down alcohol before it hits the blood)Levels of impairment are also related to concentration.06: drinker feels relaxed.09:drinker is intoxicated.55< death may resultMost dangerous of recreational drugsDelirium Tremens: terrifying visual hallucinations that begin within 3 days after they stop or reduce their drinkingAlcohol plays a role in more the 1/3 of all suicides, homicides, assaults, rapes, and accidental deathsKorsakoff’s Syndrome: alcohol related deficiency of vitamin B; marked by extreme confusion, memory loss, and other neurological symptomsCant remember the past or learn new informationFetal Alcohol Syndrome: pattern of abnormalities that includes mental retardation, hyperactivitySedative-hypnotic drugs, opioids (most common)Exam # 3 Study Guide Chapters 12, 17 & 18CAUSES OF MR - Sociological (Poverty-related retardation) o Single biggest cause (75% of mental retardation)o Factors Pre-post natal deficiencies Lack of intellectual stimulation No role model for learning  Lack of basic vaccinations  Environmental deprivation  Genetic/Chromosomalo #5 Cri Du Chat Syndrome (cry of the cat syndrome) Piece of #5 missingo #15 Prader-Willi Syndromeo Instable appetite, obesity o Lissencephalyo