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Autism And ID > Units 4 & 5 > Flashcards

Units 4 & 5 Flashcards

1
Q

Down syndrome (trisomy 21)

A

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

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2
Q

What are the partial trisomies?

A

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

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3
Q

What is 4P trisomy?

A

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

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4
Q

What is 6P trisomy?

A

Microcephaly
Failure to thrive
ID sometimes ASD

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5
Q

What is 9P trisomy?

A

Macrocephaly (big head)

Moderate to severe ID

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6
Q

What is 20P trisomy?

A

Brachycephaly (flattened area in the back of your head)

Mild to severe ID

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7
Q

What are the types Chromosomal Deletions?

A 
5p deletion (“Cri du chat”)
11p deletion (WAGR)
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8
Q

What is 5p deletion (“Cri du chat”)?

A 
Larynx problem (the voice box)
Slow growth 
Widely set eyes
Hypotonia (decreased muscle tone)
Moderate to severe ID
Severe speech and language delays
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9
Q

What is 11p deletion (“WAGR”)?

A

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

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10
Q

What are the Chromosome deletions?

A

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

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11
Q

What is Prader Willi Syndrome?

A 
Extreme obesity 
Behavior problems with food denial 
Compulsive behavior (hoarding)
Mild to moderate ID
Relative strengths in reading, LTM, visual-spatial
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12
Q

What is Angelman Syndrome?

A 
Large mouth and widely spaced teeth 
Abrupt inappropriate laughter 
Absent or limited expressive language 
Severe to profound ID
Extremely affectionate
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13
Q

What is Williams Syndrome?

A

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

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14
Q

What are the sex linked chromosomal abnormalities?

A

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

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15
Q

What is XXY- klinefelters Syndrome?

A

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

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16
Q

What is XXX- Trisomy X or Triple X?

A

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

17
Q

What is XXXXX- Penta X Syndrome?

A

Moderate to severe ID
Females only
Physical stigma

18
Q

What are the dominant genetic disorders?

A

Tuberous Sclerosis

Rett Syndrome

19
Q

What is Tuberous Sclerosis?

A 
Genes on chromosomes 9 and 15
Butterfly shaped rash
Seizures 
ID
benign tumors 
Language delays 
Behavior problems 
Hyperactivity 
Aggression 
Less than 10% have ASD
20
Q

What is Rett syndrome?

A

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

21
Q

What are the recessive genetic disorders?

A

Phenylketonuria (PKU)
Galactosemia
Tay-Sachs Disease

22
Q

What is phenylketonuria?

A

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

23
Q

What is Galactosemia?

A

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

24
Q

What is Tay-Sachs Disease?

A 
Inability to metabolize lipids (fats)
Blindness 
Severe ID
Dementia 
Loss of motor skills 
Results in 100% death by age 4-5
25
Q

What are the sex linked genetic disorders?

A

Lesch-Nubian Syndrome

Fragile X

26
Q

What is Lesch-Nyhan Syndrome?

A 
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
27
Q

What is fragile X Syndrome?

A 
X-linked dominant 
In boys much more severe than girls 
Behavior problems 
Most are quite social 
Many diagnosed with ASD
28
Q

What are Prenatal risk factors for ID?

A

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

29
Q

What are prenatal risk factor for ID: drugs?

A

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

30
Q

Prenatal medical factors?

A

Diabetes- brain damage

Hypertension- hypoxia (not enough oxygen) to brain damage

31
Q

Perinatal factors for ID?

A

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)

32
Q

Postnatal factors infections?

A

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

33
Q

Postnatal factors toxins?

A

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

34
Q

Postnatal risk factors cerebral trauma?

A

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

35
Q

What are assessments of ID?

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

Autism And ID (2 decks)

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