NURSING CARE PLAN

FOR CHILDREN WITH

DOWN SYNDROME
Laboratorium Keperawatan Anak
Jurusan Keperawatan Unsoed
 Definition:
Down syndrome (DS) or Down’s syndrome is also known
as trisomy 21. It is a genetic disorder caused by the
presence of extra chromosome 21 .It is typically
associated with a delay in cognitive ability (mental
retardation or MR) and physical growth and a particular
set of facial characteristics.

The average IQ of young adults with Down syndrome is

around 50 whereas young adults without the condition
typically have an IQ of 100.
 Pathophysiology

1. According to the gene-dosage effect hypothesis, the

genes located on chromosome 21 have been
overexpressed in cells and tissues of Down
syndrome patients, and this contributes to the
phenotypic abnormalities.
2. Molecular analysis reveals that the 21q22.1-q22.3
region, also known as the Down syndrome critical
region (DSCR), appears to contain the gene or genes
responsible for the congenital heart
disease observed in Down syndrome.
 Pathophysiology (2)
a. Abnormal physiologic functioning affects thyroid metabolism and
intestinal malabsorption; patients with trisomy 21 have an increased risk
of obesity; frequent infections are presumably due to impaired immune
responses, and the incidence of autoimmunity,
including hypothyroidism and rare Hashimoto thyroiditis, is increased.
b. Patients with Down syndrome have decreased buffering of physiologic
reactions, resulting in hypersensitivity to pilocarpine and abnormal
responses on sensory-evoked electroencephalographic (EEG) tracings.
c. Decreased buffering of metabolic processes results in a predisposition to
hyperuricemia and increased insulin resistance.
d. Children with Down syndrome are predisposed to developing leukemia,
particularly transient myeloproliferative disorder and acute
megakaryocytic leukemia.
e. Musculoskeletal manifestations in patients with Down syndrome include
reduced height, atlantooccipital and atlantoaxial hypermobility, and
vertebral malformations of the cervical spine.
f. About 5% of patients with Down syndrome have GI manifestations,
including duodenal atresia, Hirschsprung disease, and celiac disease.
 Signs and Symptoms
People with Down syndrome share a number of physical
characteristics. Not everyone suffering from the syndrome will
have all of them but they may include:

• Decreased muscle tone resulting in floppiness (hypotonia)

• Small nose and flat nasal bridge
• Small head, ears and mouth
• Eyes slant upwards and outwards
• Groove between the first and second toe (sandal gap)
• Broad hands with short fingers
• Palm may have only one crease (palmar crease)
• Below average weight and length at birth

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Physical characteristics: a
small chin, slanted eyes,
poor muscle tone, a flat
nasal bridge, and a single
crease of the palm.
Clinical Manifestations
On physical examination, patients with trisomy 21 have characteristic craniofacial
findings, such as the following:
1. Flat occiput and a flattened facial appearance. This is mostly recognized by
the time the child turns 1 year old or more.
2. Small brachycephalic head. Brachycephaly or shortness of head is a common
manifestation.
3. Epicanthal folds. Epicanthal folds at the inner angle of the eyes are present.
4. Flat nasal bridge. Another common manifestation is the short, flattened
bridge of the nose of the child.
5. Upward-slanting palpebral fissures. There is an “almond-shaped” appearance
of the eyes.
6. Brushfield spots. Brushfield spot is the speckling of the iris.
7. Small nose and small mouth. The child is often identified as having a small
nose and mouth.
8. Protruding tongue. The protruding tongue is thick and fissured.
9. Small and dysplastic ears. The child’s ears are also small and dysplastic.
10. Generous nuchal skin. The child’s skin is dry, cracked, and fissured, and may
be mottled.
 Etiology

Down syndrome is a genetic condition that occurs as a result of an extra

chromosome (chromosome 21). Usually, cells contain 46 chromosomes.
23 are inherited from the mother and 23 from the father.

People with Down syndrome, may contain 47 chromosomes as there is an

extra copy of chromosome 21.

The additional genetic material causes physical and developmental

characteristics associated with Down syndrome. There are three forms of
Down syndrome, although the effects of each type are usually similar.
 Classification for DS
• Trisomy 21 is the most common type. Trisomy 21 is
generally seen due to every cell in the body has an extra
copy of chromosome 21 (trisomy is a Greek word that
means ‘third copy’).
• Translocation is caused when a piece of chromosome 21
attaches itself to another chromosome in a cell.
• Mosaicism is the least common type. Here, only some of Other common features
the cells have an extra copy of chromosome 21. People include: a flat and wide face,
a short neck, excessive joint
with mosaic Down syndrome may experience less delay flexibility, and a protruding
with some aspects of their development. tongue due to a
small mouth and relatively
large tongue.

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Diagnosis
Antenatal/ Prenatal screening: Pregnant women of any age
should be offered screening for genetic conditions such as
Down syndrome. Antenatal screening is a way of assessing
the likelihood of baby developing or already having developed
an abnormality during pregnancy. The screening test used for
Down syndrome is known as the ‘combined test’. It includes a
blood test and ultrasound scan.

A sample of blood is taken and tested to check the levels of

certain proteins and hormones. If blood contains abnormal
levels of these substances then there may be an increased
chance of having a baby with Down syndrome.
Diagnosis (2)
A special type of ultrasound scan known as nuchal translucency that measures the pocket
of fluid behind the baby’s neck. Babies with Down syndrome usually have more fluid in their
neck than normal. Measuring the thickness of fluid will help determine whether baby is
likely to have Down syndrome.

Post natal diagnosis: Clinical examination by a paediatrician can often confirm or refute
this suspicion with confidence. Systems of diagnostic criteria for such an examination
include Fried’s diagnostic index which includes the following 8 signs:

• Flat face
• Ear dysplasia
• Tongue protrusion
• Corners of mouth turned down
• Hypotonia
• Neck skin excess
• Epicanthic fold
• A gap between 1st and 2nd toes.
 COMPLICATIONS
Complications of Down syndrome include:

• Heart disorders
• Bowel abnormalities
• Digestive problems
• Hearing and vision impairments
• Thyroid dysfunctions
• Increased risk of infections
• Blood disorders
• Increased risk of dementia
 MANAGEMENT

There is no cure for the down’s syndrome yet but there is much that
can be done to help someone with the condition to lead a healthy,
active and more independent life. Management strategies such as:

Early childhood intervention: Early intervention is a system of

coordinated services that promotes the child’s growth and
development and supports families during the critical early years
like Early communication intervention promote linguistic skills.
MANAGEMENT (2)
1. Screening for common problems.
2. Medical treatment when required
3. A conducive family environment
4. Vocational training that can improve the overall
development of children with Down syndrome.
5. Education and proper care will improve quality of life
significantly
6. Plastic surgery: Plastic surgery has sometimes proved
to promote and performed on children with Down
syndrome based on the assumption that surgery can
reduce the facial features associated with Down
syndrome, therefore, decreasing social stigma and
leading to a better quality of life.
MANAGEMENT (3)

Cognitive development: Individuals with Down syndrome

differ considerably in their language and communication
skills. It is routine to screen for middle ear problems and
hearing loss, low gain hearing aids or other amplification
devices can be useful for language learning.

Music therapy is useful in some patients for social and

motor development.
 NURSING MANAGEMENT

Nursing Assessment
Assessment of a child with Down syndrome include:
•Physical assessment. The nurse should perform a thorough,
systemic, head-to-toe assessment of the newborn.
•History. Nurses should obtain a history of mother’s
pregnancy, birth history, and genetic testing.
Nursing Diagnoses
Based on the assessment data, the major nursing
diagnoses are:
A. Delayed growth and development related to
impaired ability to achieve developmental tasks.
B. Self-care deficit: bathing and hygiene, dressing,
feeding, toileting related to cognitive impairment.
C. Impaired verbal communication related to
impaired receptive or expressive skills.
D. Risk for infection related to decreased muscle tone
and poor drainage of mucus.
 The major goals for a child with Down syndrome
are:
1. The child will be able to perform motor,
Nursing social, and/or expressive skills typical of
age group within the scope of present

Care 2.
capabilities.
The child will perform self-care and self-
Planning 3.
control activities appropriate for age.
The child will be able to establish a
and Goals method of communication in which needs
can be expressed.
4. The child will be able to achieve timely
wound healing; be free of purulent
drainage or erythema, and be afebrile.
 Nursing Interventions

Nursing interventions are:

1. Provide adequate nutrition. Assess the child’ ability to swallow, provide
information on the proper way of giving food, and provide good nutrition
counseling.
2. Frequent consultations are a must. Encourage parents to have the child’s
hearing and vision checked regularly.
3. Assess understanding of Down syndrome. Educate the parents about Down
syndrome and the care of a child with the disease.
4. Provide emotional support and motivation. The family caregiver needs support
during these trying times; they need strong support and guidance from the time
the child is born.
Evaluation
Goals are met as evidenced by:
1. The child was able to perform motor, social, and/or
expressive skills typical of age group within the
scope of present capabilities.
2. The child performed self-care and self-control
activities appropriate for age.
3. The child was able to establish a method of
communication in which needs can be expressed.
4. The child was able to achieve timely wound healing;
be free of purulent drainage or erythema, and be
afebrile.
 Documentation Guidelines

Documentation in a child with Down’s syndrome include:

1. Availability and use of support systems and community

resources.
2. Plan of care.
3. Teaching plan.
4. Attainment or progress toward desired outcomes.
5. Deviations from normal parenting expectations.