Units 4 & 5 Flashcards
Down syndrome (trisomy 21)
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
What are the partial trisomies?
4P Trisomy
6P trisomy
9P trisomy
20P trisomy
What is 4P trisomy?
Microcephaly (head is smaller than expected due to abnormal brain development)
Severe ID
What is 6P trisomy?
Microcephaly
Failure to thrive
ID sometimes ASD
What is 9P trisomy?
Macrocephaly (big head)
Moderate to severe ID
What is 20P trisomy?
Brachycephaly (flattened area in the back of your head)
Mild to severe ID
What are the types Chromosomal Deletions?
5p deletion (“Cri du chat”) 11p deletion (WAGR)
What is 5p deletion (“Cri du chat”)?
Larynx problem (the voice box) Slow growth Widely set eyes Hypotonia (decreased muscle tone) Moderate to severe ID Severe speech and language delays
What is 11p deletion (“WAGR”)?
Wilms tumor (type of cancer that starts in the kidney)
Aniridia (absence of iris)
Genital abnormalities
ID
What are the Chromosome deletions?
15q deletion
If inherited from father: Prader Willi Syndrome
If inherited from mother: Angelman Syndrome (Happy Puppet Syndrome)
Williams Syndrome
What is Prader Willi Syndrome?
Extreme obesity Behavior problems with food denial Compulsive behavior (hoarding) Mild to moderate ID Relative strengths in reading, LTM, visual-spatial
What is Angelman Syndrome?
Large mouth and widely spaced teeth Abrupt inappropriate laughter Absent or limited expressive language Severe to profound ID Extremely affectionate
What is Williams Syndrome?
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
What are the sex linked chromosomal abnormalities?
XXY- Klinefelters Syndrome
XXX- Trisomy X or Triple X
XXXXX- Penta X Syndrome
What is XXY- klinefelters Syndrome?
Only in males
Physically infertile
Cognitive impairment
Ranges from no impairment to mild ID
What is XXX- Trisomy X or Triple X?
Mild ID
Only in females
1/1000 births: majority are never diagnosed
What is XXXXX- Penta X Syndrome?
Moderate to severe ID
Females only
Physical stigma
What are the dominant genetic disorders?
Tuberous Sclerosis
Rett Syndrome
What is Tuberous Sclerosis?
Genes on chromosomes 9 and 15 Butterfly shaped rash Seizures ID benign tumors Language delays Behavior problems Hyperactivity Aggression Less than 10% have ASD
What is Rett syndrome?
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
What are the recessive genetic disorders?
Phenylketonuria (PKU)
Galactosemia
Tay-Sachs Disease
What is phenylketonuria?
Unable to metabolize phenylalanine (amino acid)
Delayed mental and social skills
Seizures
ID
What is Galactosemia?
Can’t metabolize galactose (component of milk)
Poor feeding
Poor growth
Irritability
What is Tay-Sachs Disease?
Inability to metabolize lipids (fats) Blindness Severe ID Dementia Loss of motor skills Results in 100% death by age 4-5
What are the sex linked genetic disorders?
Lesch-Nubian Syndrome
Fragile X
What is Lesch-Nyhan Syndrome?
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
What is fragile X Syndrome?
X-linked dominant In boys much more severe than girls Behavior problems Most are quite social Many diagnosed with ASD
What are Prenatal risk factors for ID?
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
What are prenatal risk factor for ID: drugs?
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
Prenatal medical factors?
Diabetes- brain damage
Hypertension- hypoxia (not enough oxygen) to brain damage
Perinatal factors for ID?
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)
Postnatal factors infections?
Meningitis- bacterial or viral infection that affects the brain and spinal cord
Encephalitis- brain is inflamed, heroes causes this
Postnatal factors toxins?
Poisons
Mercury- cause ID and neurological problems
Lead- low levels risk factors for ADHD, higher levels for ID, very high levels death
Postnatal risk factors cerebral trauma?
Traumatic brain injury (TBI)- caused by accidents or abuse (when brain hits skull)
What are assessments of ID?
Screening instruments Intellectual assessments Language assessments Social/ adaptive behavior assessments Other domain assessments
