about mongolism

2. Objectives
• Define the term Mongolism
• Identify the causes of Mongolism
• Identify the manifestations of Mongolism
• The medical surgical management
• The nursing management (i.e.
Assessment, Nursing Diagnosis,
Plan/Goal, Intervention and Evaluation).

4. • The abnormal condition of a child
born mentally deficient, with a
flattened skull, narrow slanting eyes,
and a short, flat-bridged nose.
• It is also known as Down Syndrome
or Trisomy 21.

5. Cont’d
• A degree of mental delay (mental
retardation).
• Although it cannot be treated, most
patients can live a normal life with the
proper care and help they need.

7. • It is caused by a random error that occurs in cell
division where the presence of an extra copy of
chromosome 21.
• This error is called is called nondisjunction.
• Usually what happens is that when one cell
divides in two, pairs of chromosomes are split so
that one of the pair goes to one cell, and the
other from the pair goes to the other cell.

8. • In nondisjunction however, something
goes wrong and both chromosomes from
one pair go into one cell and no
chromosomes for that pair go into the
other cell.
• This error occurs mostly at random,
maybe during the formation if an egg, a
sperm or even after fertilization.

9. • Based on statistics:
• In more than 90% of cases, the extra copy of
chromosome 21 comes from the mother in the
egg.
• In about 4% of the cases, the father provides
the extra copy of chromosome 21 through the
sperm.
• In the remaining cases, the error occurs after
fertilization, as the embryo grows.

11. • Complete trisomy 21-In this case, an error during the
formation of the egg or the sperm results in either one
having an extra chromosome. So after the egg and
sperm unite, the resulting cells will also have three
copies of chromosome 21.
• Mosaic trisomy 21-Not every cell in the body is exactly
the same. In about 1% of Down syndrome cases, most
of the cells in the body have the extra chromosome, but
some of them don't. This is called "mosaicism." Mosaic
trisomy 21 can occur when the error in cell division takes
place early in development but after a normal egg and
sperm unite.

12. Cont’d
• Translocation trisomy 21-In this type of
chromosomal change, only part of an extra copy
of chromosome 21 is in the cells. The extra part
of the chromosome gets "stuck" to another
chromosome and gets transmitted into other
cells as the cells divide.

14. • Most children with down syndrome have
some of these physical traits:
• Short stature: the child usually have slow
growth rate, and in adulthood their height
is lower than average.
• Low muscle tone: a child suffering from
Down syndrome may have less muscle
strength than other children of the same
age.

15. Cont’d
• Short neck, thick with fat and excess skin:
usually this feature becomes less obvious
as the child grows.
• Short and stocky limbs, some children
may have a wider space between the
thumb and second finger of the foot.
• One fold in the central part of the palm: it
is called the simian line.

16. Cont’d
• Ears with modified form: usually small and with a
low placement.
• Abnormal mouth and tongue: mouth is often
open, tongue with scrotal appearance (in
adolescents and adults).
• Flattened nasal bridge: flat nose portion located
between the two eyes (nasal bridge) is
frequently clogged.

17. Cont’d
• Brushfield’s spots : colored spots on the
iris, these spots are not affecing the sight;
• Malformation of the teeth: baby teeth may
grow later and in an unusual way,

18. Cont’d
• Children with Down syndrome can have a variety
of complications, some of which become more
prominent as they get older, including:
– Heart defects- Approximately half the children
with this disorder are born with some type of
heart defect. These heart problems can be
life-threatening and may require surgery in
early infancy.
– Leukemia- Young children with down
syndrome are more likely to develop leukemia
than are other children

19. Cont’d
– Infectious diseases- Because of abnormalities
in their immune systems, those with down
syndrome are much more susceptible to
infectious diseases, such as pneumonia, TB.
– Dementia- Later in life, people with down
syndrome have a greatly increased risk of
dementia. Those who have dementia also have
a higher rate of seizures.

20. Cont’d
• Sleep apnea- Because of soft tissue and skeletal
alterations that lead to the obstruction of their
airways, children with down syndrome are at
greater risk of obstructive sleep apnea.
• Down syndrome may also be associated with
other health conditions, including gastrointestinal
blockage, thyroid problems, early menopause,
seizures, hearing loss, premature aging, skeletal
problems and poor vision.

23. • This may include:
– Early intervention- This would include detecting signs
of mongolism while pregnant via ultrasound. These
can help show if the developing baby (fetus) is at risk
for Down syndrome. But these tests sometimes give
false-positive or false-negative results.
– Continuous checkups- Throughout life, the patient
with mongolism may have to have continuous testing
done to find out if there are any signs of the
complications associated with the disorder and et
treatment accordingly.

24. Cont’d
– Surgeries may be done as well to correct any
of these complications.

26. Assessment
• This would be based on the complication the
patient with mongolism may be experiencing.
For example:
– Vomiting
– Dyspnea
– Cataracts

27. Nursing Diagnosis
• This may also be based on the complications associated
with mongolism, which may include:
– Risk for activity intolerance related to cardiac conditions.
– Risk for self care deficit related to inability to do adequate ADL’s
due to mental retardation.
– Risk for infections due to abnormalities in the immune system.
– Risk for injury due to poor vision, secondary to cataracts
associated with down syndrome.
– Risk for impaired social interaction due to physical feature
secondary to down syndrome.

28. Patient Goals/
• Patient will be able to identify the activities
that they are able to do as well as those
they cannot.
• Patient’s ADL will not be impaired or
neglected.
• Patient will remain uninjured during
hospital stay.

29. Interventions with Rationale
• Complete a number of ROM activities with patient to
identify the number as well as type of activities that
can be done. This will ensure that the patient gets
enough physical activity done without causing a
cardiac flare-up.
• Educate the family on how to properly care for patient
and promote maximum independence. This will ensure
that the patient’s ADL is not being neglected and also
encourage patient how to care for themselves.

30. Cont’d
• Educate patient as well as other staff of proper
safety measures to take as it relates to patient
and encourage patient not to go unescorted.
This will ensure that no harm comes to patient
when moving about

31. Evaluation
• Number and types of activities were
established.
• Patient’s ADL was not neglected.
• Patient remained uninjured during hospital
stay.

32. Other Interventions
• Educate parents to provide a conducive learning
environment
• Assess areas surrounding the child’s learning including
presentation of vision or hearing impairments so as to
maximize child’s learning process and develop
interpersonal & language skills
• Educate parents on regular check-ups or doctor visit for
continuous testing for the complications associated like
hearing deficit, impaired vision, cardiac problems etc.