DOWN

SYNDROME
RUDY HANDOYO
REHABILITASI MEDIK
FK UNDIP/RS Dr. KARIADI


Introduction
Down syndrome is a genetic condition that causes
delays in physical and intellectual development.
It occurs in approximately one in every 800 live births.
About 85% of infants with Down syndrome survive 1
year, and 50% of people with Down syndrome live
longer than 50 years.
Down syndrome is not related to race, nationality,
religion or socioeconomic status.
The most important fact to know about individuals
with Down syndrome is that they are more like others
than they are different.


Cause
Down syndrome is usually caused by an error
in cell division called nondisjunction.
It is not known why this occurs. However, it is
known that the error occurs at conception and
is not related to anything the mother did
during pregnancy.
It has been known for some time that the
incidence of Down syndrome increases with
advancing maternal age. However, 80% of
children with Down syndrome are born to
women under 35 years of age.
Classifications
Trisomy 21
(non
disjunction)
95% of all
cases
Have an entire
extra
chromosome
in every cell
Not
genetically
inherited


Classifications

Translocation
3-4% of all cases
Total number of
chromosomes is
normal
Part of chromosome
21 breaks off and
attaches to another
chromosome to
produce signs and
features


Classifications

Mosaicism
1-2% of all cases
Abnormal cell division in only some cells
Abnormal cells contain 47 chromosomes
with extra genetic material on the 21st
Symptoms are nearly the same

Characteristic Features
of Down Syndrome
Characteristic Features
of Down Syndrome

The head may be smaller than normal (microcephaly)
and abnormally shaped.
Typical facial features include a flattened nose,
protruding tongue, and upward slanting eyes.
The inner corner of the eyes may have a rounded fold
of skin (epicanthal fold) rather than coming to a point.
The hands are short and broad with short fingers, and
they often have a single crease in the palm.
Normal growth and development is usually retarded,
and most affected children never reach average adult
height.
Characteristic Features
of Down Syndrome
Heart defects present from birth are often
present in people with Down syndrome.
Early death is often caused by cardiac
abnormalities.
Gastrointestinal abnormalities (such as
esophageal atresia, duodenal atresia) are
also relatively common.
Acute lymphocytic leukemia is also more
common in children with Down syndrome.

Risk for Down
syndrome
Advanced maternal age remains the only well-documented
risk factor for Down syndrome.
With a maternal age of 35 years, risk is 1 in 385.
With a maternal age of 40 years, risk is 1 in 106.
With a maternal age of 45 years, risk is 1 in 30.
Couples who have had one child with the most common
type of Down syndrome are at a slightly increased risk
(about 1%) for having another affected child.
A carrier parent with a translocation has much higher risk
of having a baby with Down syndrome.
People with Down syndrome rarely reproduce. From 15-
30% of women with trisomy 21 are fertile, and they have a
50% risk of having an affected child. No evidence exists of
an affected man fathering a child.
Prenatal screening and diagnosis
Because Down syndrome is associated with getting pregnant at an
older age, older women should generally have screening with
amniocentesis.
Amniocentesis (routinely performed at 14-16 weeks' gestation) is
the most commonly used and most reliable invasive diagnostic
test. The procedure is associated with a small risk of pregnancy
loss (1 in 200-300).
Other invasive diagnostic tests include chorion villi biopsy (CVS) in
the first trimester and cordocentesis (collection of fetal blood from
the umbilical vein with an ultrasound-guided needle). Fluorescence
in situ hybridization (FISH) analysis may be performed to analyze
interphase cells (uncultured cells) and metaphase spreads
(cultured cells) for speedy results.
However, these results should be confirmed with chromosome
analysis from cultured fetal cells.


Other screening tests include testing for
low maternal serum alpha-fetoprotein
(MSAFP), high human chorionic
gonadotropin (hCG), and low
unconjugated estriol (uE3).
Screening for Down
Syndrome
Down syndrome may also be suspected based on
prenatal ultrasonography in routine examination or in
women at high risk. The prenatal ultrasound markers
include the following:


Nuchal (neck) fold thickening - Identifies 75% of Down syndrome
fetuses
Shortened humerus or femur length - Detect about 31% of cases
Cystic hygroma (cystic structure in neck region)
Duodenal atresia or stenosis (double bubble sign)
Cardiac defects - The most common defects are endocardial
cushion defect with atrial and ventricular septal defects.
Echogenic bowel (the bowel reflects sound waves)
Renal pyelectasis (dilatation of the pelvis of the kidney)

Health Problems

Respiratory infections leading cause of death in children
Hearing problems 75% risk in children
Dental problems periodontal disease
Seizures occur more often in this population
Breathing problems frequent waking and sleep apnea
Unstable joints, poor muscle strength, and weak ligaments
increased dislocation of neck bones, spinal and neck injury,
Spinal arthritis, and foot problems
Weight issues burn calories at a slower rate
Skin problems dry skin, dermatitis, chronic skin inflammation,
and fungal infection
Behavior problems
Depression

Diseases Associated
with Down Syndrome

Heart disease 50% of children have heart defects at
birth
Thyroid disease 15% of children, usually
underactive thyroid (hypothyroidism)
Digestive system problems constipation and
intestinal blockages due to hypotonia, abnormal
narrowing of the duodenum
Eye problems: cataracts and cornea disease are less
common
Alzheimers disease increased risk
Childhood leukemia at greater risk than other
children

There is no specific treatment for Down syndrome.
Early intervention programs, such as physical
therapy, occupational therapy, and speech
therapy, are helpful.
Special education and training is offered in most
communities for mentally handicapped children.
People with Down syndrome should have plenty of
opportunities to participate in community life.
Children with Down syndrome should participate in
social activities, sports, and other aspects of
society during the growing years.


Risk of vision problems, hearing loss,
infection, cardiac, gastrointestinal and
hypothyroidism is increased, therefore
screening and treatment may be
necessary.

Goal of
Rehabilitation
Fine and gross motor function
Social skills i.e.:
Can ask to go to toilet
Communication
Perception
Self-help skills
Learning and Education


Assessment:
Communication:
By eye movement
With sound
With bodily responses
Eye contact:
With people
With toys
Head control:
To lift and turn
In lying and sitting
Mouth and trunk control:
For sounds
For feeding
For mouth closure
Assessment:
Arm support:
For propping in prone
To crawl
to balance in sitting
Hand use:
To reach and grasp
To pass objects from hand to hand
To manipulate
Trunk control:
As a base for movement
To balance and respond to outside faces
Assessment:
Stable sitting:
Supported
Independent
Mobility
Rolling and crawling
Lying and sitting
Sitting to standing
Walking
Running, jumping, hopping
Speech and Language
problems
Sequencing of sounds and words may be
difficult
Hearing loss and oral-facial weakness and
structural differences directly affect speech
Intelligibility of speech and articulation is an
issue associated with low muscle tone and
oral/facial anomalies
Fluency problems may be present
Treatment should be individually designed
Cognitive problems
50-60% of the population has an IQ
range from 30-50
Concentration difficulties
Learning difficulties
EXERCISE AND
ACTIVITY
Aims:
Health related
Motor fitness
strength
speed and power
agility
Cardiorespiratory fitness
Weight control
Posture, flexibility



EXERCISE AND
ACTIVITY
Aims:
Skill-related:
Use of objects, equipment and texture
Social aspects:
Cooperative skills
Interaction
Creative aspects:
Imagination
Quality of movement


EXERCISE AND
ACTIVITY
Components:
Stamina and endurance
Sitting balance, standing balance
Manual dexterity
Arm strength
Coordination
Movement experience: swings, rolls
Imagination: making body shapes
Fine motor skills

Coping Strategies
Use routine, order, and sameness as a
way of rationalizing and controlling their
lives
Stubbornness and refusal to cooperate
may be a signal that they do not fully
understand what is expected of them



Many adult patients are healthy, have more
active roles in society, and have increased
lifespan. However, life expectancy is still
reduced compared to the normal population.
Congenital heart disease is the major cause
for early death.
Many people with Down syndrome begin to
develop progressive loss of mental function
similar to Alzheimer disease by age 40 years,
and 75% of people with Down syndrome
show signs and symptoms of Alzheimer
disease