MID FINAL INCLUSIVE Ed
MID FINAL INCLUSIVE Ed
MID FINAL INCLUSIVE Ed
• DOWN SYNDROME
• PHENYLKETONURIA (PKU)
- Due to chromosomal disability, having three or the 21st set
- People with PKU cannot break down the amino acid
of chromosomal (trisomy 21) instead of a pair.
phenylalanine - The body uses phenylalanine to produce
- Often results in moderate level of intellectual disability,
the neurotransmitter norepinephrine. This neurotransmitter
although some individual function in mild or severe range.
has many important functions, including helping signals
- Incidence increases with the age of the mother.
travel between the brain and the body's nerve cells.
maintaining an awake or alert state, which then builds up
in their blood and brain. This can lead to brain damage.
- At around 5 days old, babies are offered newborn blood
spot screening to test for PKU and many other conditions.
This involves pricking your baby's heel to collect drops of
blood to test.
• FRAGILE X SYNDROME
- Fragile X syndrome (FXS) is a genetic disorder. FXS is caused
by changes in a gene called Fragile X Messenger
Ribonucleoprotein 1 (FMR1) – is a gene located on the X
chromosome. It's a protein-coding gene that produces a
protein called FMRP. FMRP is important for creating and
maintaining connections between cells in the brain and
nervous system.
- People who have FXS do not make this protein.
- Males are usually affected while females are usually
carriers.
• WILLIAM SYNDROME
- Williams syndrome is a developmental disorder that affects
many parts of the body. This condition is characterized by
mild to moderate intellectual disability or learning problems,
unique personality characteristics, distinctive facial
features, and heart and blood vessel (cardiovascular)
problems.
- People with Williams syndrome typically have difficulty with
visual-spatial tasks such as drawing and assembling puzzles,
but they tend to do well on tasks that involve spoken
language, music, and learning by repetition (rote
memorization). Affected individuals have outgoing,
engaging personalities and tend to take an extreme
interest in other people. Attention deficit disorder (ADD),
problems with anxiety, and phobias are common among
people with this disorder.