01:830:340 Chapter Notes - Chapter 15: Fetal Alcohol Spectrum Disorder, Intellectual Disability, Phenylalanine
30 Apr 2018
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Chapter 15
● Intellectual disorders (before the age of 18)
○ Causes (Down’s syndrome, PKU, Fragile X syndrome, fetal alcohol syndrome-
others toxins )
■ Down syndrome- the most common chromosomal disorder; cause is bc
of an extra chromosome, which causes the failure of chromosomes from
separating during cell separation.
● Incidence increases the older the mom is
■ Fragile x syndrome- most common genetic disorder; transmitted
genetically by the fragile x-mental retardation gene
● Not all that carry the fragile x gene have have any intellectual
disabilities, just may find it hard to learn some stuff
● They are usually socially anxious, avoid eye contact, and have
stereotypic hand movements
■ PKU- intellectual disabilities; caused by high levels of amino acid
PHENYLALANINE due to inherited absence of or an extreme deficiency
of PHENYLALANINE HYDROXYLASE (the enzyme that breaks down
phenylalanine)
● Kids are born with normal intelligence, but brain damage occurs
with phenylalanine build up which leads to severe intellectual
disabilities
○ 3 major criteria
■ DEFICITS IN INTELLECTUAL FUNCTIONING
● IQ is at or below 70
■ DEFICITS IN ADAPTIVE FUNCTIONING
■ ONSET BEFORE THE AGE OF 18
● Amniocentesis-the sampling of amniotic fluid using a hollow needle inserted into the
uterus, to screen for developmental abnormalities in a fetus.
● IQ scores-mean, standard deviation
○ Intelligence quotient (IQ)- the test rates a person’s intellectual ability
○ Mean score of 100
○ And standard deviation of 15 points
● Normalization- means that people with intellectual disabilities are entitled to live as
much as possible like other members of society
● Mainstreaming- placing people with intellectual disabilities in a normal classroom
setting with other people bc it’s less restricting
● Primary, secondary and tertiary prevention
○ Primary prevention- good maternal and child healthcare
○ Secondary prevention- providing a good environment; so schools meant for
children with intellectual disabilities
○ Tertiary- careful assessment early on in life is KEY
● Cultural-familial retardation (primary, secondary, tertiary prevention)
find more resources at oneclass.com
find more resources at oneclass.com
Document Summary
Causes (down"s syndrome, pku, fragile x syndrome, fetal alcohol syndrome- Down syndrome- the most common chromosomal disorder; cause is bc of an extra chromosome, which causes the failure of chromosomes from separating during cell separation. Fragile x syndrome- most common genetic disorder; transmitted genetically by the fragile x-mental retardation gene. Not all that carry the fragile x gene have have any intellectual disabilities, just may find it hard to learn some stuff. They are usually socially anxious, avoid eye contact, and have stereotypic hand movements. Pku- intellectual disabilities; caused by high levels of amino acid. Phenylalanine due to inherited absence of or an extreme deficiency of phenylalanine hydroxylase (the enzyme that breaks down phenylalanine) Kids are born with normal intelligence, but brain damage occurs with phenylalanine build up which leads to severe intellectual disabilities. Amniocentesis-the sampling of amniotic fluid using a hollow needle inserted into the uterus, to screen for developmental abnormalities in a fetus.
