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

Translocation

Classifications

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 1530% 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.

Screening for Down

Syndrome

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.

Screening for Down

Syndrome
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

Treatment
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.

Treatment

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:

Eye contact:

With people
With toys

Head control:

By eye movement
With sound
With bodily responses

To lift and turn

In lying and sitting

Mouth and trunk control:

For sounds
For feeding
For mouth closure

Assessment:

Arm support:

Hand use:

For propping in prone

To crawl
to balance in sitting
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

Prognosis
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