Units 4 & 5

Question 1

Down syndrome (trisomy 21)

Answer 1

Trisomies (triplets of chromosomes)
3rd copy of 21st chromosome
Physical stigma- folds at inner corners of eyes
Mild to moderate ID
weakness: grammar, exp language and speech
Strengths: visual-spatial tasks
Cognitive development slows over time
Mosaic is- only some cells in body have 3 copies
Most cases chromosome 21 is in all body cells

Question 2

What are the partial trisomies?

Answer 2

4P Trisomy
6P trisomy
9P trisomy
20P trisomy

Question 3

What is 4P trisomy?

Answer 3

Microcephaly (head is smaller than expected due to abnormal brain development)
Severe ID

Question 4

What is 6P trisomy?

Answer 4

Microcephaly
Failure to thrive
ID sometimes ASD

Question 5

What is 9P trisomy?

Answer 5

Macrocephaly (big head)

Moderate to severe ID

Question 6

What is 20P trisomy?

Answer 6

Brachycephaly (flattened area in the back of your head)

Mild to severe ID

Question 7

What are the types Chromosomal Deletions?

Answer 7

5p deletion (“Cri du chat”)
11p deletion (WAGR)

Question 8

What is 5p deletion (“Cri du chat”)?

Answer 8

Larynx problem (the voice box)
Slow growth 
Widely set eyes
Hypotonia (decreased muscle tone)
Moderate to severe ID
Severe speech and language delays

Question 9

What is 11p deletion (“WAGR”)?

Answer 9

Wilms tumor (type of cancer that starts in the kidney)
Aniridia (absence of iris)
Genital abnormalities
ID

Question 10

What are the Chromosome deletions?

Answer 10

15q deletion
If inherited from father: Prader Willi Syndrome
If inherited from mother: Angelman Syndrome (Happy Puppet Syndrome)
Williams Syndrome

Question 11

What is Prader Willi Syndrome?

Answer 11

Extreme obesity 
Behavior problems with food denial 
Compulsive behavior (hoarding)
Mild to moderate ID
Relative strengths in reading, LTM, visual-spatial

Question 12

What is Angelman Syndrome?

Answer 12

Large mouth and widely spaced teeth 
Abrupt inappropriate laughter 
Absent or limited expressive language 
Severe to profound ID
Extremely affectionate

Question 13

What is Williams Syndrome?

Answer 13

Cause by spontaneous deletion of 26-28 genes on chromosome 7 (either in egg or sperm)
Strengths: social friendly and endearing
Difficulties: cardiovascular problems, spatial relations, numbers, abstract reasoning, phobias, anxiety, attention

Question 14

What are the sex linked chromosomal abnormalities?

Answer 14

XXY- Klinefelters Syndrome
XXX- Trisomy X or Triple X
XXXXX- Penta X Syndrome

Question 15

What is XXY- klinefelters Syndrome?

Answer 15

Only in males
Physically infertile
Cognitive impairment
Ranges from no impairment to mild ID

Question 16

What is XXX- Trisomy X or Triple X?

Answer 16

Mild ID
Only in females
1/1000 births: majority are never diagnosed

Question 17

What is XXXXX- Penta X Syndrome?

Answer 17

Moderate to severe ID
Females only
Physical stigma

Question 18

What are the dominant genetic disorders?

Answer 18

Tuberous Sclerosis

Rett Syndrome

Question 19

What is Tuberous Sclerosis?

Answer 19

Genes on chromosomes 9 and 15
Butterfly shaped rash
Seizures 
ID
benign tumors 
Language delays 
Behavior problems 
Hyperactivity 
Aggression 
Less than 10% have ASD

Question 20

What is Rett syndrome?

Answer 20

An autism spectrum
Gene is on X chromosomes
Boys are miscarried
Normal development followed by developmental regression
ID
Motor problems: hand wringing and hand to mouth behavior

Question 21

What are the recessive genetic disorders?

Answer 21

Phenylketonuria (PKU)
Galactosemia
Tay-Sachs Disease

Question 22

What is phenylketonuria?

Answer 22

Unable to metabolize phenylalanine (amino acid)
Delayed mental and social skills
Seizures
ID

Question 23

What is Galactosemia?

Answer 23

Can’t metabolize galactose (component of milk)
Poor feeding
Poor growth
Irritability

Question 24

What is Tay-Sachs Disease?

Answer 24

Inability to metabolize lipids (fats)
Blindness 
Severe ID
Dementia 
Loss of motor skills 
Results in 100% death by age 4-5

Question 25

What are the sex linked genetic disorders?

Answer 25

Lesch-Nubian Syndrome | Fragile X

Question 26

What is Lesch-Nyhan Syndrome?

Answer 26

``` Abnormal recessive gene on X chromosome Excess of uric acid in blood Severe compulsive self mutilation Very difficult to treat self injury Severe ID Often die during adolescence ```

Question 27

What is fragile X Syndrome?

Answer 27

``` X-linked dominant In boys much more severe than girls Behavior problems Most are quite social Many diagnosed with ASD ```

Question 28

What are Prenatal risk factors for ID?

Answer 28

Rubella- can produce series of health problems and ID if mother gets it during pregnancy Toxoplasmosis- protozoan infection during first 3 months fetus is exposed to this; ID, hydrocephaly (buildup of fluid in the brain) etc Syphilis- fetal infection after 18 weeks of not being treated. Baby can have seizures and hydrocephaly AIDS- 90% children exposed in fetal stage show brain related neurological abnormalities

Question 29

What are prenatal risk factor for ID: drugs?

Answer 29

Cocaine- brain damage Heroin- baby born addicted to drug Fetal alcohol syndrome- brain damage Cigarettes- reduces birth weight and develops ID Dilantin- controls seizures and can produce ID Accurate (Retin A)- controls acne can damage fetus

Question 30

Prenatal medical factors?

Answer 30

Diabetes- brain damage | Hypertension- hypoxia (not enough oxygen) to brain damage

Question 31

Perinatal factors for ID?

Answer 31

Prematurity Encephalopathy- brain injury during delivery Trauma to brain during delivery (using forceps) Genital herpes- can lead to heroes encephalitis (infection) for baby. Can cause brain inflammation, blindness and ID Kernicterus- caused by high levels of bilirubin (yellow compound in the liver that breaks down excreted bile)

Question 32

Postnatal factors infections?

Answer 32

Meningitis- bacterial or viral infection that affects the brain and spinal cord Encephalitis- brain is inflamed, heroes causes this

Question 33

Postnatal factors toxins?

Answer 33

Poisons Mercury- cause ID and neurological problems Lead- low levels risk factors for ADHD, higher levels for ID, very high levels death

Question 34

Postnatal risk factors cerebral trauma?

Answer 34

Traumatic brain injury (TBI)- caused by accidents or abuse (when brain hits skull)

Question 35

What are assessments of ID?

Answer 35

``` Screening instruments Intellectual assessments Language assessments Social/ adaptive behavior assessments Other domain assessments ```