Trisomy 21- also called mongolism or Down syndrome

- Is a genetic disorder caused by the presence of

all or part of third copy of chromosome 21. It is
usually associated with physical growth delays,
mild to moderate intellectual disability, and
characteristic facial features.
- Most common chromosomal abnormality is
with 47 xx or 47 xy chromosome (normal is 46
xx or 46 xy wherein 23 spermatozoa and 23 ova)
- In trisomy 21, there is extra in the 21st
chromosomes.
- Incidence: > born to parents of all ages but
more common among women over age 35 and
men over 55 yrs if age.

Assessment:

1. Physical manifestations:

Back of head- flat, with extra pad of fat at the base

of the head

Eyelids- have extra fold in the inner canthus

(epicanthal fold) and opening between the eyelids (
palpebral fissure) tends to slant laterally upward.

Iris of the eye- may have white specks in it (

brushfield’s spots)

Ears- low set

Neck- short
Muscle tone- poor giving the baby a “rag doll”
appearance
Nursing management:
Fingers- short and thick; little finger- curves inward;
toes- widely spaced
Palm of hand- shows a peculiar crease ( simian
crease- single horizontal palm crease)
Cognitive challenge- not evident at birth (IQ- 50 to
70)- less involved; IQ less than 20 need total care.
Near average IQ represents a mosaic chromosomal
patterns.
Assess for associated problems
 Congenital anomalies- congenital heart
disease (GI) duodenal atresia or stenosis
Hirschsrung disease
Tracheoesophageal atresia
 Congenital heart disease- atrioventricular
disorders
 Sensory problems- strabismus, myopia,
cataract, hearing loss
 Altered immune functions- making them
prone to URTI
 Acute lymphocytic leukemia- very common
to trisomy 21
 Sexual development- is delayed and
incomplete
Duodenal atresia
1. Implement a plan of care- include planning and
intervention strategies for associated problems
and features
2. Encourage genetic counseling
3. When feeding infants and young children, use a
small straight-handled spoon to push food to
the side and back of the mouth. Feeding
difficulties occur due to a protruding tongue
and hypotonia.
4. Encourage fluids and foods rich in fiber
- Constipation results from decreased muscle
tone which affects gastric motility.
5. Provide good skin care- because the skin is dry
and prone to infection
6. Prevent respiratory infections-
a. Clearing the airway
b. Perform chest physiotherapy
c. Provide good handwashing
d. Avoid exposure to infections
Febrile seizures
Seizures- is an involuntary contraction of muscles
caused by abnormal electrical brain discharges
Febrile seizures- are seizures that are associated with
an illness characterized by a high fever (38.9 to 40
degrees Celsius)
- It lasts for 15 to 20 seconds; generalized and
occur to children without neurologic disability
age 3 months to 7 yrs.
Convulsions- is a violent involuntary contraction or
spasm of the muscles
- Are usually associated with urinary tract
infection, upper respiratory tract infection and
roseola.
Febrile convulsions- are considered benign if underlying
neurologic and physical problems are rules out.
Types of seizures:
1. Partial seizures- originates from a specific brain
area
- No altered level of consciousness
- Seizures with motor signs begins in the fingers
and spreads to the wrist, arms and face in a
clonic contraction
- Seizures with sensory signs includes numbness,
tingling, sensation, paresthesia or pain
originating in one area then spreads to other
body
- Caused by a rapidly growing tumors
2. Generalized seizure- the disturbances involves
the entire brain and loss of consciousness
usually occurs
Tonic seizures- contraction of muscles,
extension of extremities, loss of bowel and
bladder control, cyanosis
Clonic seizures- rhythmic contraction and
relaxation of the extremities
Etiology>> unknown
- It is usually associated with an acute benign
febrile illness
Pathophysiology:
 It is initiated by a considered high fever or by a
sudden spike of temperature
 The seizures is characterized by an active tonic-
clonic pattern and lasts in less than 1 minute
and associated with acute benign febrile illness
 The seizures subsides quickly once the fever is
lowered
Assessment:
1. Fever (temp. 38.9- 40°C)
2. Tonic- clonic seizures
3. Diagnostic study findings:
 Computed tomography (CT scan) and magnetic
resonance imagine (MRI)
- Are performed to rule out abnormalities
 Lumbar puncture- done to rule out meningitis
 Electroencephalography (EEG)- done to rule out
the likelihood of seizures disorder
Nursing management:
1. Maintain a stable body temperature
 Do sponge bath using tepid water to reduce
fever quickly
 Apply cool wash cloth on the child’s forehead,
axilla and groin
2. Prevent injury and the recurrence of seizures
 By providing child and family health teachings
 3. Administer medications:
 Paracetamol- to lower body temperature
 Antibiotic therapy- should be given in a
complete dose depending on the type of
infection
 Phenobarbital and diazepam- both
anticonvulsant
Meningitis
- An infection of the cerebral mininges ( the 3rd
layer membranes that cover and protect the
brain)
The 3 layers of the cerebral meninges:
1. Dura mater- outer most layer and the toughest
of the layers
2. Arachnoid- middlemost and resembles a
spider’s web
3. Pia mater- closest to the brain, it is transparent
one that touches the brain and spinal cord.
 Kernig;s sign- let the patient lie down, flex hip
and knee forming a 90° angle positive sign (+)
patient will feel pain, resistance and spasm
 Brudzinski’s sign- let the patient lie down, flex
the nec; positive sign (+) patient can do bilateral
hip, knee, ankle flexion
d. Opisthotonos position- back is arched and
neck is hyperextended
e. Cranial nerve paralysis (3rd and 6th nerves
affected)- child is unable to follow a light
through full visual fields
f. Bulging and tense fontanelles (if open)
g. Shows signs of increased intracranial
pressures
 Nuchal rigidity (nape of the neck becomes stiff)
 Poor sucking reflex
 Bulging and tense fontanelles
 Weak cry
 Lethargy
 Apnea
 Seizures

Etiology: (common to children less than 24 mos age)

1. Viral infection- if the spread of organisms are

from URTI through the lymphatic drainage on
the mastoid or sinuses by direct introduction
like lumbar puncture or skull fracture
2. Bacterial infection- caused by organisms like:
a. Streptococcus pneumonia
b. Escherichia coli h. Papilledema- swelling of the optic nerve of
c. Pseudomonas the eyes (if fontanelles is closed)
d. Haemophilus influenza (rare now due to
immunization)

Pathophysiology:

Organisms pass throughout CSF meningeal space

brain infection  brain abscess brain tissues
results to blindness, deafness, facial paralysis

Assessment:

1. Physical manifestation
a. 2-3 days URTI (sough and colds, irritable
due to colds and moderate fever)
b. Seizures
c. Shows signs of meningeal irritation