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16th LectureDown Syndrome

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16 views28 pages

16th LectureDown Syndrome

Uploaded by

channahhaniya
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PPT, PDF, TXT or read online on Scribd
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Down Syndrome

Down Syndrome
• Down Syndrome is named after John
Langdon Down,
• the British doctor who first described the
condition in 1887.

• It wasn’t until 1959, however that an


extra chromosome was identified as the
cause.
Definition of Down Syndrome
• Down Syndrome is a combination of
physical abnormalities and mental
retardation characterized by a genetic
defect in chromosome pair 21.
• The genetic defect associated with
Down Syndrome is the presence of
extra material on the chromosome pair
designated 21.
Who Is Affected By Down
Syndrome?
• 1 child in every 700 births has Down syndrome.

• 250,000 people in the U.S. have Down syndrome.

• Down syndrome is not related to race, nationality,

religion or socioeconomic status.


What Causes Down Syndrome?

• Normally, each egg and sperm cell


contains 23 chromosomes.

• The union of these creates 23 pairs, or 46


total chromosomes.

• Occasionally, an egg or sperm cell does


not develop properly and contributes 24
chromosomes instead of 23.
What Causes Down Syndrome?
(cont.)
• The features of Down syndrome result from
having an extra chromosome 21 in each of the
body’s cells.

• Down syndrome is also referred to as

• Trisomy 21, because of the presence of

• three number 21 chromosomes.


Can Down Syndrome Be
Diagnosed Prenatally?
• Yes, it can be diagnosed or more likely ruled out.
• Alpha fetoprotein (AFP) blood test, a screening
test, can be done around the 16th week of
pregnancy.
• Amniocentesis or chorionic villus sampling are
the most reliable tests used, but should be used
cautiously due to the risks associated with them.
Diagnosis of Down Syndrome
• Down syndrome is usually identified at birth or shortly
thereafter.
• Initially the diagnosis is based on physical
characteristics that are commonly seen in babies with
Down syndrome these include:

• Low muscle tone,


• a single crease across the palm of the hand,
• a slightly flattened facial profile and
• an upward slant to the eyes.
• The diagnosis must be confirmed by a
chromosome study (karyotype).

• A karyotype provides a visual display of the


chromosomes grouped by their size, number
and shape.
• Chromosomes may be studied by examining
blood or tissue cells.
What Does A Child With Down
Syndrome Look Like?
• May have eyes that slant upward.
• Small ears that may fold over at the top.
• Small mouth, making the tongue appear large.
• Small nose, with a flattened nasal bridge.
• Some babies may have short necks, small
hands, and short fingers.
• Adults are often short with unusually limber
joints.
How Will Children With Down
Syndrome Develop Compared To
Other Children?
• Children with Down syndrome can do most things that any
young child can do, such as walking, talking, dressing, and
being toilet trained, but usually develop later than other
children.

• Down syndrome usually results in some degree of mental


retardation, the degree of which varies widely. However,
many will learn to read and write.
• Many people with Down syndrome
hold supported employment, and
frequently live semi-independently.
Special Health Problems
Associated With Down Syndrome
1. Heart defects occur in 30-50%.

2. Intestinal malformations requiring surgery occur in 10-12%.

3. Visual and hearing impairments occur in > 50%.

4. Thyroid problems

5. adult onset leukemia,

6. epilepsy

7. diabetes

8. Alzheimer's occur more frequently.


Special Health Problems
Associated With Down Syndrome
(cont.)
• Higher rate of infections due to compromised
immune system and decrease in number of T
cells.

• Dry mouth caused by mouth breathing


associated with upper respiratory infections.

• Periodontal disease accelerated by increased


number of infections.
What Extra Medical Care Should
These Children Receive ?

• Examination by a pediatric cardiologist


and echocardiogram.

• Regular vision and hearing exams.

• Regular medical care including childhood


immunizations.
Effects On Speech
• Expressive language of children with Down syndrome
is commonly more delayed than receptive language
(Desai, 1997).
• Contributing factors to expressive language delay
include: mental deficiency, relatively large tongue in a
small oral cavity, excessive salivation, poor oral
closure, dry and thickened mucous, dental anomalies,
hypotonia, hearing problems, aphasia.
• Disordered articulation in children with down
syndrome reflects a delay in speech development
similar to that of normal children (Borsel, 1988).
Tongue Resection As A
Treatment For Symptomatic
Macroglossia(large tongue)
• Tongue reduction surgery has no effect on the
articulation of sounds (Parsons et al., 1987).
• Partial glossectomy increases aesthetic appearance
of speech, but has little or no effect on speech
intelligibility (Klaiman et al., 1988; Margar-Bacal et
al., 1987).
• Tongue resection improved deglutition and reduced
drooling (Siddiqui & Pensler, 1990).
Is There A Cure For Down
Syndrome?
• No, there is no cure.

• It cannot be prevented

• Scientists do not know why problems


involving chromosome 21 occur.

• Down syndrome is not caused by anything


either of the parents did or did not do.
Who Has An Increased Risk
Of Having A Baby With Down
Syndrome?
• Parent who already had one child with
Down syndrome.

• Mother over 35 years old.


What are the Treatments
• Though there is no cure for DS, children born
with the condition can lead productive lives.

• Early intervention with physical therapy,


begun shortly after birth, can help strengthen
muscles for these basic motor skills.
Management through
Multidisciplinary
• Of health care professionals.
• Cardiac problems.
• The therapist must always consider the
influence of a heart problem on performance
when assessing the child’s motor abilities.
• Specific heart defects may require surgical
correction.
• Dental care. The teeth tend to be small,
irregularly spaced and misshapen. Early and
frequent dental care is required to ensure
adequate dentition for adult life.
• Special education and training is offered in
most communities for mentally handicapped
children.
• The potential for visual problems, Hearing loss, and
increased susceptibility to infection will require
screening and treatment at appropriate intervals.

• A tendency towards obesity requires special attention


to healthy diet and exercise.

• Physiotherpay intervention should be based on the


results of a qualitative assessment of the child’s
movement e.g “how” the child crawls not just “if the
child crawls”
• Children with DS attempt to compensate for
their:
• hypotonia,
• decreased strength short arms and legs by
compensatory movement patterns,
• which if allowed to persist often develop into
orthopedic and functional problems.
A Quiz To Test Your Understanding
1. Is Down Syndrome caused by something
the mother does during pregnancy?

2. Can Down Syndrome be prevented?

3. What factors contribute to mouth


breathing?

4. What are some of the health problems


associated with Down Syndrome?
Check Your Understanding
1. No. Nothing the mother (or father) does
causes Down syndrome.
2. No. Down syndrome cannot be
prevented.
3. Mouth breathing occurs due to small
nasal passages and high incidence of
respiratory infections.
4. Heart defects, intestinal malformations,
vision and hearing impairments.

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