GENETIC DESCRIPTION

DISORDERS Down syndrome (sometimes called Down’s
syndrome) is a condition in which a child is
A genetic disorder is a disease caused in whole born with an extra copy of their 21st
or in part by a change in the DNA sequence chromosome — hence its other name, trisomy
away from the normal sequence. Genetic 21. This causes physical and mental
disorders can be caused by a mutation in one developmental delays and disabilities.
gene (monogenic disorder), by mutations in
multiple genes (multifactorial inheritance SYMPTOMS
disorder), by a combination of gene mutations
and environmental factors, or by damage to At birth:
chromosomes (changes in the number or
structure of entire chromosomes, the  Flat facial features
structures that carry genes).  Small head and ears
 Short neck
 Bulging tongue
 Eyes that slant upward
DOWN  Atypically shaped ears

SYNDROME Poor muscle tone
Mental and social
developmental delay:
 Impulsive behaviour
 Poor judgement
 Short attention span
 Slow learning capabilities
Medical complications:
 Congenital heart defects
 Hearing loss
 Poor vision
 Cataracts
 Leukemia
 Chronic constipation

Sleep apnea
Dementia
 Hypothyroidism
 Obesity
TREATMENTS
There’s no cure for Down syndrome, but
there’s a wide variety of support and
educational programs that can help both
people with the condition and their families.
The NDSS is just one place to look for programs
nationwide. Available programs start with
interventions in infancy. Federal law requires
that states offer therapy programs for
qualifying families. In these programs, special
education teachers and therapists will help
your child learn:
 sensory skills
 social skills
 self-help skills
 motor skills
 language and cognitive abilities
Prognosis
The aging process seems to be accelerated, but
most children with Down syndrome survive to
adulthood. The average life expectancy is
about 60 years, and some affected people live
into their 80s.
additional
trivial facts
Oldest person with down
syndrome:
A pensioner from Nottingham has become
Britain's oldest person with Down's Syndrome
after celebrating his 78th birthday - despite
doctors saying he would not live beyond 10.
Sprightly Georgie Wildgust puts his longevity
down to a love of dancing and an active social
life surrounded by a strong network of family
and friends. Strictly Come Dancing fan Georgie
is now believed to be one of the oldest people
in the world with Down's syndrome and the
oldest in the country.
Types of Down
Syndrome
Trisomy 21: About 95% of people with
Down syndrome have Trisomy 21.2 With this
type of Down syndrome, each cell in the body
has 3 separate copies of chromosome 21  One factor that increases the risk for
instead of the usual 2 copies. having a baby with Down syndrome is
the mother’s age. Women who are 35
Translocation Down syndrome: years or older when they become
This type accounts for a small percentage of pregnant are more likely to have a
people with Down syndrome (about 3%).2 This pregnancy affected by Down syndrome
occurs when an extra part or a whole extra than women who become pregnant at
chromosome 21 is present, but it is attached or a younger age. However, the majority
“trans-located” to a different chromosome of babies with Down syndrome are
rather than being a separate chromosome 21. born to mothers less than 35 years old,
because there are many more births
Mosaic Down syndrome: This type
among younger women.
affects about 2% of the people with Down
syndrome.2 Mosaic means mixture or
combination. For children with mosaic Down
syndrome, some of their cells have 3 copies of
chromosome 21, but other cells have the
typical two copies of chromosome 21. Children
with mosaic Down syndrome may have the
same features as other children with Down
syndrome. However, they may have fewer
features of the condition due to the presence
of some (or many) cells with a typical number
of chromosomes.
Causes and
Risk Factors
 The extra chromosome 21 leads to the
physical features and developmental
challenges that can occur among
people with Down syndrome.
Researchers know that Down
syndrome is caused by an extra
chromosome, but no one knows for
sure why Down syndrome occurs or
how many different factors play a role.