CAMARINES SUR POLYTECHNIC COLLEGES

Nabua, Camarines Sur

College of Health Sciences

Name of Student: Katelinne Alba Dabucol

________________________________ Grade: _________________

BSN 2A
Year & Section: _________________________________ February 21, 2023
Date: __________________

Asynchronous Activity

1. Trisomy 21
a. Etiology
- In Trisomy 21, the person has three copies of chromosome 21, instead of the usual two copies, in
all cells. This is caused by abnormal cell division during the development of the sperm cell or the
egg cell.

b. Risk factors
 Advancing maternal age
 Being a carrier of the genetic translocation for Down syndrome
 Having had one child with Down syndrome.
c. Epidemiology
- The most frequently occurring chromosomal order, occurs in about one in 800 pregnancies. In
people who are older than 35 years, the incidence is as high as one in 100 live births.
- The male-to-female ratio is slightly higher (approximately 1.15:1) in newborns with Down
syndrome, but this effect is restricted to neonates with free trisomy 21.
- The prevalence of Down syndrome worldwide has increased because of increases in lifespan in
the last few decades.
d. Pathology
- As with most conditions that result from chromosome imbalance, Down syndrome affects
multiple systems and causes both structural and functional defects. Not all defects are present in
each person.
- Most affected people have some degree of cognitive impairment, ranging from severe (IQ 20
to 35) to mild (IQ 50 to 75). Gross motor and language delays also are evident early in life.
Height is often reduced, and there is an increased risk of obesity.
 - About 50% of affected neonates have congenital heart disease; ventricular septal defect  and
atrioventricular canal (endocardial cushion) defect are most common.
- Many people develop endocrinopathies, including thyroid disease (most often hypothyroidism)
and diabetes. About 60% of people have eye problems, including congenital cataracts,
glaucoma, strabismus, and refractive errors. Most people have hearing loss, and ear infections
are very common.
- The aging process seems to be accelerated. In recent decades, the median life expectancy has
increased to about 60 years, and some affected people live into their 80s. Comorbidities
contributing to decreased life expectancy include heart disease, increased susceptibility to
infections, and acute myelogenous leukaemia. There is an increased risk of Alzheimer disease at
an early age, and at autopsy, brains of adults with Down syndrome show typical microscopic
findings.
- Affected women have a 50% chance of having a fetus that also has Down syndrome; however,
many pregnancies are spontaneously lost. Men with Down syndrome are infertile, except for
those with mosaicism.
e. Physical clinical features
 Physical features of children are so marked that fetal diagnosis is possible by sonography in
the utero.
 Nose is broad and flat.
 Eyelids have extra fold of tissue at the inner canthus, and the palpebral fissure (opening
between the eyelids) tends to slant laterally upward.
 Iris of the eye may have white specks called Bushfield spots
 Tongue is apt to protrude from mouth because the oral cavity is smaller than usual.
 the back of the head is flat, neck is short, and an extra pad of fat at the base of the head
causes the skin to be so loose it can be lifted easily and so thin it can be revealed on a fetal
sonogram.
 Ears may be low set.
 Muscle tone is poor, giving the newborn a rag doll appearance.
 Fingers of many are short and thick, and the little fingers is often curved inward.
 There may be a wide space between the first and the second toes and between first and
second finger.
 Palm of the hand shows peculiar crease or a single horizontal crease rather than usual three
creases in the palm.
f. Cognitive clinical features
- Are usually cognitively challenged to some degree. Intelligence quotients (IQs) can range from 70
to profoundly affected with an IQ lower than 20.
- Extent of cognitive challenge is not evident at birth, but the fact the brain is not developing well
is usually evidenced by a head size smaller than 10th or 20th percentile at well-child.
g. Nursing Diagnosis
 Delayed growth and development related to impaired ability to achieve developmental
tasks.
 Impaired verbal communication related to impaired receptive or expressive skills.
 Risk for infection related to decreased muscle tone and poor drainage of mucus.
 Imbalanced nutrition less than body requirements related to difficulty feeding due to tongue
far and high palate.
2. Cleft
a. Types of Clefts
 Cleft Lip
 Cleft Palate
b. Etiology
Cleft Lip
- Fusion fails to occur in varying degrees, causing this disorder to range from small notch in the
upper lip to total separation of the lip and facial structures up into the floor of the nose, with
even the upper teeth and gingiva absent. The deviation may be bilateral.
Cleft Palate
- Opening of the palate and occurs when the palatal process does not close as usual at
approximately weeks 9-12 of intrauterine life. The incomplete closure is usually on the midline
and may involve the anterior hard palate, the posterior soft palate, or both. It may occur as a
separate anomaly or in conjunction with a cleft lip.
c.

Pathophysiology
d. Associated problems
 Feeding problem. With a separation or opening in the palate, food and liquids can pass from the
mouth back through the nose.
 Speaking problem. Children who have this may have trouble speaking as these children’s voices
don't carry well, the voice may take on a nasal sound, and the speech may be difficult to understand.
 Ear infection/hearing loss. Children with cleft palate are at increased risk of ear infections since they
are more prone to fluid build-up in the middle ear. If left untreated, ear infections can cause hearing
loss
e. Signs and symptoms

 A split in the lip and roof of the mouth (palate) that affects one or both sides of the face
 A split in the lip that appears as only a small notch in the lip or extends from the lip through the
upper gum and palate into the bottom of the nose
 A split in the roof of the mouth that doesn't affect the appearance of the face

f. Management
 The goals of treatment for cleft lip and cleft palate are to improve the child's ability to eat, speak
and hear normally and to achieve a normal facial appearance.
 Treatment involves surgery to repair the defect and therapies to improve any related conditions.
Surgeries typically are performed in this order:
- Cleft lip repair — within the first 3 to 6 months of age
- Cleft palate repair — by the age of 12 months, or earlier if possible
- Follow-up surgeries — between age 2 and late teen years
g. Treatment

 Feeding strategies, such as using a special bottle nipple or feeder

 Speech therapy to correct difficulty with speaking.
 Orthodontic adjustments to the teeth and bite, such as having braces.
 Monitoring by a paediatric dentist for tooth development and oral health from an early age
 Monitoring and treatment for ear infections, which may include ear tubes.
 Hearing aids or other assistive devices for a child with hearing loss
 Therapy with a psychologist to help the child cope with the stress of repeated medical
procedures or other concerns.

h. Nursing Diagnosis
 Risk for aspiration related to opening of the palate
 Imbalance nutrition less than body requirement related to poor feed intake
 Impaired communication related to problem with the production of sound
 Deficient knowledge (mother) regarding proper feeding techniques