Genetic and Pediatric Disorders- Chapter 18

Question 1

Human Genome Project

Answer 1

mapping of entire human DNA sequence, 2003

ethical, legal, and social issues continue to be explored

Question 2

Genes

Answer 2

each human cell hold approximately 50,000 genes

lifestyle can express genes

Question 3

Genetic Disorders

Answer 3

no active or mutated
inherited predisposition or susceptibility to certain diseases
initiating factors may be influenced by lifestyle choices
not all genes are expressed in each cell, cells determine which get expressed

Question 4

autosomal dominant

Answer 4

only one parent has to pass the abnormal gene, if passed it will be expressed

Question 5

autosomal recessive-

Answer 5

both parents have to pass abnormal gene, has to occur on both pair of chromosomes

Question 6

x linked recessive-

Answer 6

linked to sex chromosome, usually occurs in males; discrepancy will be expressed because only x

Question 7

aminocentesis-

Answer 7

ultra sound, needle inserted through abdomen into uterus, fluid is drawn for analysis

Question 8

chorionic villus sampling

Answer 8

around fetus, tissue contains DNA

Question 9

Huntington’s Chorea

Answer 9

autosomal dominant, inherited CNS disease

highest suicide rate of all genetic disorders

Question 10

Huntington’s Chorea- predisposing factors

Answer 10

50% chance inherit from one parent
75% both parents carry trait
5-10 per 100,000

Question 11

Huntington’s Chorea- symptoms

Answer 11

momentary loss of balance
severe uncontrolled movements
loss of mental competence
change in personality

Question 12

Huntington’s Chorea prevention

Answer 12

unknown, no warning signals

Question 13

Huntington’s Chorea treatment

Answer 13

no known cure

drugs to help control movements

Question 14

cystic fibrosis

Answer 14

inherited disease of exocrine glands
Autosomal Recessive
sweat glands, salivary glands, mammary glands, stomach, liver, pancreas
kills more children than any other disease

Question 15

cystic fibrosis predisposing factors

Answer 15

central european ancestry, inbreeding

both parents carry gene, 25% inheriting it

Question 16

cystic fibrosis symptoms

Answer 16

abnormal mucus secretion, blocking bowels and lungs
chronic lung infection
heat intolerance
hypertension 
cirrhosis
inability to sweat
problem digesting fat
periodic infections

Question 17

cystic fibrosis prevention

Answer 17

unknown, can’t alter genetics

Question 18

cystic fibrosis treatment

Answer 18

gene manipulation before birth
breathing exercises, PT, postural drainage
antibiotics
air conditioner and humidifier usage

Question 19

Phenylketonuria

Answer 19

Autosomal Recessive Disorders
amino acid naturally found in breast milk
closely related to dopamine, epinephrine and tyrosine
build up can cause mental retardation
inability to break down and digest, builds up

Question 20

Phenylketonuria- predisposing factors

Answer 20

higher among celtic origin and central Europeans

Question 21

Phenylketonuria - symtoms

Answer 21

no signs shown at birth
neurological disturbances at 4 months
eczema
steep decline in IQ in first year
epilepsy 
seizure, something wrong with CNS
phenylaline stored in skin, musty smell

Question 22

Phenylketonuria- prevention

Answer 22

early screening for PKU- blood test

early treatment can minimize damage

Question 23

Phenylketonuria - treatment

Answer 23

eliminate phenlyalanine from diet

Question 24

Sickle Cell Anemia

Answer 24

autosomal recessive
Autosomal Recessive
blood cells unable to carry sufficient oxygen due altered shape
trait may be protection from malaria

Question 25

Sickle Cell Anemia Predisposing factors

Answer 25

typically african ancestry are carriers- not express

Question 26

Sickle Cell Anemia symptoms

Answer 26

``` heart problems fatigue breathlessness during activity joint swelling leg ulcers ```

Question 27

Sickle Cell Anemia prevention

Answer 27

unknown

Question 28

Sickle Cell Anemia treatment

Answer 28

hospitalization for transfusion hydroxyurea proper nutrition stress management

Question 29

Hemophilia A

Answer 29

x linked recessive deficiency of certain clotting factors higher prevelance in males

Question 30

Hemophilia A predisposing factors

Answer 30

mother have 50% chance passing it to sons | daughters are typically only carriers

Question 31

Hemophilia A symptoms

Answer 31

pain accompanying bleeding often hemorrhage into joints and muscles mild cases may not be noticed until major trauma occurs

Question 32

Hemophilia A prevention

Answer 32

avoid activities with risk of injuries

Question 33

Hemophilia A treatment

Answer 33

hospitalization for transfusion | infusions of missing clotting factors

Question 34

Down Syndrome

Answer 34

Chromosomal abnormalities- too little or too many | possession of 47 chromosomes instead of 46

Question 35

Down Syndrome predisposing factors

Answer 35

age of mother at birth, over 35 yr old 1 in 800 births 21st pair

Question 36

Down Syndrome symptoms

Answer 36

``` mental retardation specific facial features heart disease, pelvic bone abnormalities very susceptible to leukemia and chromic infections blonde hair, blue eyes ```

Question 37

Down Syndrome prevention

Answer 37

unknown

Question 38

Down Syndrome treatment

Answer 38

no known cure surgery for heart defects antibiotics for infections, prophylactically

Question 39

Klinefelter's Syndrome

Answer 39

chromosomal abnormalities males possession of one or more extra X chromosomes males XXY

Question 40

Turners Syndrome

Answer 40

females, X only | gender development abnormalities

Question 41

Klinefelter's Syndrome predisposing factors

Answer 41

increases with age of mother

Question 42

Turners Syndrom predisposing factors

Answer 42

increases with age of mother

Question 43

Klinefelter's Syndrome symptoms

Answer 43

infertility, small penis, prostate sparse facial and abdominal hair always infertile

Question 44

Turners Syndrome symptoms

Answer 44

females lack development, male structure, infertility

Question 45

Turners and Klinefelter's Syndrome prevention

Answer 45

unknown

Question 46

Klinefelter's Syndrome treatment

Answer 46

hormone therapy, psychotherapy

Question 47

Fetal Alcohol Syndrome predisposing factors

Answer 47

pregnant woman who consumes alcohol | first 3 months of pregnancy are especially damaging

Question 48

Fetal Alcohol Syndrome

Answer 48

fetus liver incompetent to process alcohol, alcohol sits around brain

Question 49

Fetal Alcohol Syndrome symptoms

Answer 49

``` low birth rate learning disabilities hearing abnormalities distinctive facial features infant irritability due to alcohol withdrawal ears small, flat affect ```

Question 50

Fetal Alcohol Syndrome prevention

Answer 50

abstaining from alcohol during pregnancy during pregnancy or if trying to get pregnant

Question 51

Fetal Alcohol Syndrome treatment

Answer 51

depends on type and extent of defects | defects can be corrected but mental and physical retardation last for life

Question 52

Respiratory Distress Syndrome

Answer 52

surfactant one of last chemicals to be turned on before birth, not met critical point yet

Question 53

Respiratory Distress Syndrome predisposing factors

Answer 53

deficiency of surfactant, which keep alveoli open, open found in premature babies

Question 54

Respiratory Distress Syndrome symptoms

Answer 54

grunting noises when breathing | may turn blue

Question 55

Respiratory Distress Syndrome prevention

Answer 55

prenatal care to carry full term

Question 56

Respiratory Distress Syndrome treatment

Answer 56

babies must be kept in intensive care to receive oxygen | endotracheal tube

Question 57

Sudden death infant syndrome

Answer 57

no outward symptoms, unexplainable cause, usually happens at night most common cause of death for infants 1 month to 1 yr in US (3/4) under 6 mo

Question 58

Sudden infant death syndrome predisposing factors

Answer 58

``` prematurity low birth weight bottle feeding cold weather poor maternal health poor living environment really unknown ```

Question 59

Sudden infant death syndrome symptoms

Answer 59

none are commonly apparent mild cold symptoms unexplained weight loss

Question 60

Sudden infant death syndrome prevention

Answer 60

infants who sleep on their backs less likely to have SIDS

Question 61

Sudden infant death syndrome treatment

Answer 61

none