Republic of the Philippines

TARLACSTATEUNIVERSITY
COLLEGE OF SCIENCE
DEPARTMENT OF NURSING
Lucinda Campus, Brgy. Binauganan, Tarlac City Philippines
Tel.no.: 4931865 Fax: (045) 982-0110 website: www.tsu.edu.ph

CLINICAL CASE
ANALYSIS (DOWN
SYNDROME)

Submitted by:
Gamboa, Steven
Lumna, Trinah
Mata, Meryl
Simon, Arabela
Tarape, Sean Roi

BSN 2A – Group 5

Submitted to:
Rowena Baniqued Lamorena, RN, MSN
Pedia Ward Clinical Instructor

MARCH 2023
 Republic of the Philippines
TARLACSTATEUNIVERSITY
COLLEGE OF SCIENCE
DEPARTMENT OF NURSING
Lucinda Campus, Brgy. Binauganan, Tarlac City Philippines
Tel.no.: 4931865 Fax: (045) 982-0110 website: www.tsu.edu.ph

CASE SCENARIO
Family Reyes lives in Quezon Province. Both parents were 45 years old and having 4
children. Mr. Reyes has family history of Genetic disorder. The Family encounters
difficulties of life like lack of finances, their main source of income is selling vegetables.
Mrs. Reyes was on her 5 th pregnancy and due to financial problem pre-natal checkup is
not her priority and never took supplementary vitamins and most of the time she skips
meals.
After 9 months, she gave birth on January 8, 2022, to a baby boy named Peter. The
delivery was attended by a Barangay Midwife, but baby Peter was advised to be
transferred for a higher care for medical intervention because he shows a distinct feature
like a flattened face, especially the bridge of the nose, almond-shaped eyes, short neck
with redundant skin, small ears, eyes, nose, hands, feet. He was then admitted at Quezon
Province General Hospital; vitally stable.
Series of Diagnostic test and clinical management was done. And was confirmed Down
syndrome by Dr. Evangelista and his Primary Nurse was Dianne.
After a month of continuous medical interventions and therapy Peter was discharged
home.

Guided questions
1. What is Down syndrome?
Down syndrome is a condition where an individual carries an excess chromosome
21, hence its name, Trisomy 21. Instead of a pair (2) of chromosome 21, an
errored sperm or egg causes an increase in chromosome, making it three
chromosomes where the disease’s name came from – Trisomy 21.
2. What are some common physical features of Down syndrome.
Patients with down syndrome generally have flat faces, short necks, slanted eyes,
small ears, small appendages, and a singular palmar crease.
3. What are the types of Down syndrome.
The 3 types of Down Syndrome are as follows:
a. Trisomy 21/Non-Disjunction
b. Robertsonian Translocation
c. Mosaic Down Syndrome
4. What ate the risk factors?
Risk factors for down syndrome involve substance abuse, exposure to unhealthy
environment, family/genetic predispositions, and parental age.
5. How is it diagnosed and treated?
There are diagnostic examinations used for down syndrome. It includes Chorionic
Villi Sampling and Amniocentesis. These detects changes in the baby whilst in
the uterus. Though accurate, the procedure is expensive and requires high level
training of staff. Which is why developing countries do not test for down
syndrome at all.
There are no treatments available to reverse the effects of down syndrome.
However, speech and motor therapy are available for the patients’ improved
cognitive development.
6. As a nurse what would be your role and responsibilities?
Nurses play a crucial role in educating the patient’s guardians about interventions
and coping for the condition. It is important to promote bonding between the
parents and child to uphold acceptance and destigmatization of the disease.
7. What are the preventive measures?
Prenatal checkups, elimination of substance consumption, improved lifestyle and
environment greatly contributes to the prevention of genetic illnesses.
INTRODUCTION
Down syndrome is a condition in which a person has an extra chromosome.
Chromosomes are small “packages” of genes in the body. They determine how a
baby’s body forms and functions as it grows during pregnancy and after birth.
Typically, a baby is born with 46 chromosomes. Babies with Down syndrome
have an extra copy of one of these chromosomes, chromosome 21. A medical
term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is
also referred to as Trisomy 21. This extra copy changes how the baby’s body
and brain develop, which can cause both mental and physical challenges for the
baby.

Even though people with Down syndrome might act and look similar, each
person has different abilities. People with Down syndrome usually have an IQ (a
measure of intelligence) in the mildly-to-moderately low range and are slower to
speak than other children.

Some common physical features of Down syndrome include:

 A flattened face, especially the bridge of the nose

 Almond-shaped eyes that slant up
 A short neck
 Small ears
 A tongue that tends to stick out of the mouth
 Tiny white spots on the iris (colored part) of the eye
 Small hands and feet
 A single line across the palm of the hand (palmar crease)
 Small pinky fingers that sometimes curve toward the thumb
 Poor muscle tone or loose joints
 Shorter in height as children and adults

International Statistics

According to United Nations, 2022, the estimated incidence of Down syndrome is

between 1 in 1,000 to 1 in 1,100 live births worldwide. Each year, approximately
3,000 to 5,000 children are born with this chromosome disorder.
National Statistics

According to Philippine News Agency, 2023, the statistics showed that one in
every 800 babies born in the Philippines has Down syndrome, a genetic
condition that occurs when an error in cell division results in an extra
chromosome 21. Babies with Down syndrome have 47 chromosomes instead of
the typical 46 chromosomes.
 A. ASSESSMENT
I. NURSING HISTORY

Name: Peter Reyes

Age: 1 year old
Birthday: January 8, 2022
Weight: 8kg
Religion: Roman Catholic
Address: Brgy. Miwangwang, Quezon Province
Chief Complaint: He has distinct features like flattened face, bridge of the
nose is flat as well, small almond-shaped eyes, short neck with redundant
skin, small ears, nose, hands, and feet.
Clinical Diagnosis: Down Syndrome

II. Environmental Status

The patient is currently living in Brgy. Miwangwang, Quezon Province

together with her parents and 4 other siblings. Their house is made of woods
and is surrounded by trees. The house only consists of 1 bedroom and 1
common bathroom making the house overcrowded for the family. The main
source of income of the family is only by selling vegetables.

III. Lifestyle

The patient’s mother doesn’t have an active lifestyle. His mother mainly
focuses on selling vegetables to sustain the family’s necessities on a daily
basis. The family usually sleeps by 10pm and wakes up by 4am to go directly
to the market and sell vegetables. Due to financial constraints during her
pregnancy, she couldn’t have a proper pre-natal check-up and wasn’t able to
take any vitamins as well. They eat twice a day if they have enough money to
provide for the whole family. However, if they made a little money for the day,
they usually eat 1 meal a day.

IV. Family History of Health and Illness

The father of baby Peter, Mr. Reyes has family history of Genetic disorder.
The Family encounters difficulties of life like lack of finances, their main
source of income is selling vegetables. Mrs. Reyes is a 45-year-old G5P5
and due to financial problem pre-natal checkup is not her priority and never
took supplementary vitamins and most of the time she skips meals.
V. History of Past Illness

The patient hasn't received his immunizations yet. He does not have any
allergies to drugs, animals, foods, or other environmental agents. There is no
surgical or medical history.

VI. History of Present Illness

Peter showed a distinct feature like a flattened face, especially the bridge of
the nose, almond-shaped eyes, short neck with redundant skin, small ears, eyes,
nose, hands, feet. Hence, he was advised to be transferred for a higher care for
medical intervention at Quezon Province General Hospital, and after Series of
examinations and clinical management, Peter was diagnosed with Down
Syndrome.

LABORATORY AND DIAGNOSTIC PROCEDURES

KARYOTYPING TEST

Indications/Purpose: A karyotype test checks the chromosomes in your cells to: See
whether you have a full set of 46 chromosomes. Having too many or too few
chromosomes can cause serious problems with health, growth, and normal development,
such as Down syndrome (extra chromosome 21) and Turner syndrome (missing X
chromosome).

Procedure: The laboratory specialist uses a microscope to examine the size, shape,
and number of chromosomes in the cell sample. The stained sample is photographed
to show the arrangement of the chromosomes.

 Sample Collection.
 Transport to the Laboratory.
 Separating the Cells.
 Growing Cells.
 Synchronizing Cells
 Releasing the Chromosomes From Their Cells.
 Staining the Chromosomes.
 Analysis.
 Counting chromosomes
 Sorting chromosomes
 Looking at the structure
 Final result

Results
Normal results are: Females: 44 autosomes and 2 sex chromosomes (XX), written as 46,
XX. Males: 44 autosomes and 2 sex chromosomes (XY), written as 46, XY.

Abnormal Result: Three copies of chromosome 21 in each cell, for a total of 47

chromosomes per cell.
 NORMAL FEMALE NORMAL FEMALE
CHORMOSOMES CHROMOSOMES

ABNORMAL CHROMOSOMES

Nursing Responsibilities

 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.

Analysis: Abnormal karyotype test results shows that the fetus have unusual
chromosomes. This may indicate genetic diseases and disorders such as: Down syndrome
(also known as trisomy 21), which causes developmental delays and intellectual
disabilities.
VII. Pathophysiology
 B. PLANNING

NURSING CARE PLAN

Assessment Diagnosis Planning Intervention Rationale Evaluation

Subjective: Reduced Muscle Tone SHORT TERM: INDEPENDENT: INDEPENDENT: SHORT TERM:
“Nurse parang Secondary by Down
Syndrome as Within 8 hours of nursing Monitor vital signs of the To have baseline information on the Within 8 hours of nursing
nanlalambot yung
Manifested by intervention, patient. patient's status of health. interventions,
anak ko, hindi Ineffective
tuloy siya Breastfeeding ProcessThe patient will be able to The patient was able to
makakain ng and Weak Feeding effectively breastfeed and Monitor the weight of the To observe if there is any abrupt effectively breastfeed and
maayos” as Reflexes take adequate amount of patient regularly. weight loss that might may lead to take adequate amount of
verbalized by the Scientific Rationale nutrition needed. further complications. nutrition needed.
mother of the Individuals with Down
syndrome can The mother of the patient Monitor the presence of To determine the appropriate The mother of the patient
patient”
frequently be identified will be able to: sucking, swallowing and feeding method for the baby. was able to demonstrate
by their appearance, coughing reflexes. proper method of
Objective: and occasionally they Demonstrate proper method breastfeeding to newborn
Floppy and limp move awkwardly of breastfeeding to newborn Explain and demonstrate To avoid injuries and physical with Down syndrome.
appearance because of inadequate with Down syndrome. the proper positioning and traumas to the newborn and for the
muscular tone hold on with poor babies newborn to breastfeed comfortably Verbalize understanding and
(hypotonia). Verbalize understanding and with poor muscle tone and effectively. exhibit ways of dealing with
Poor sucking and exhibit ways of dealing with during breastfeeding to the issues
swallowing Hypotonia can impede feeding issues. mother.
a baby's physical
growth because it Explain and demonstrate To avoid underfeeding of the baby
 causes the baby's to the mother different and to ensure that he gets enough REMARKS
muscles to become too techniques to deal with milk and nutrients during GOAL IS MET.
relaxed, giving Down sleepiness of the baby breastfeeding.
syndrome babies the during breastfeeding such
appearance of being as:
"floppy or limp."
-Wash baby’s face with a -These techniques will help the
wet cloth baby to stay alert and interested
-Gently stroke and talk to which will lessen his sleepiness.
baby
-Compress and massage
breast while breastfeeding.

Explain and demonstrate The patient has protruding tongue

to the mother how to deal that pushes against the nipple of the
with tongue thrusting mother, these methods will ensure
during breastfeeding such that the baby can effectively
as: breastfeed.

-Wait for the baby to open

wide (like a yawn) with
his tongue forward and
down.
-Gently press down on the
baby’s chin.

If breastfeeding is not still To provide adequate nutrition in

effective, initiate infant who has poor sucking and
intermittent or tube swallowing reflexes.
feeding as indicated.
 Educate the mother about To make the feeding method
proper breastfeeding and effective and comfortable.
tube feeding techniques
along with proper time of
feeding.

ASSESSMENT NURSING PLANNING NURSING RATIONALE EVALUATION

DIAGNOSIS INTERVENTION
Subjective: Ineffective infant After 10 hours of nursing Independent After 10 hours of nursing
“Hirap syang mag feeding pattern intervention, the patient Monitor the infant for It will let the nurse detect intervention, the patient
breastfeed saakin related to decreased will breastfeed effectively signs of dehydration possible signs and symptoms of breastfeed effectively and
kasi hindi nya ma muscle tone and free from signs of such as poor skin dehydration and to be able to is free from signs of
suso yung dede ko secondary to down dehydration. turgor, dry mucous render immediate intervention. dehydration.
parang matamlay syndrome as membranes, decreased
sya” as verbalized manifested by or concentrated urine,
by the mother of the inability of the infant and sunken fontanels
patient. to suck effectively. and eyeballs.

Objectives: Scientific Provide a calm, quiet, Excessive stimulation may

Explanation: non stimulation interfere with feeding.
>Feeling limp when Ineffective Infant environment while
held Feeding Pattern is feeding.
 >Poor sucking and defined by Nanda as
swallowing reflexes impaired ability of an Teach parents the To promote correct feeding
>Inabilty to infant to suck or correct positioning procedure and prevent aspiration
coordinate suckling, coordinate the during feeding and and regurgitation.
swallong and suck/swallow ensure that the baby is
breathing response resulting in fully awake.
>Poor skin turgor inadequate oral
nutrition for metabolic Record and monitor the To keep up tract of her spit-ups
needs. baby’s progress with her and how much the baby has
feedings. consumed.

Explain to the parents To increase the parent’s

the importance of understanding on the nutritional
proper nutrition among needs of their infant and promote
infants by following the strict compliance to the correct
prescribed feeding feeding patterns.
pattern.

Collaborative
Refer the mother and This will help to prevent
newborn to the interference with the proper
attending physician if feeding pattern and so as to
there is presence maintain infant’s proper nutrition.
unusual symptoms
which may need
immediate interventions.
REFERENCE:

Exchange transfusion. Mount Sinai Health System. (n.d.). Retrieved March 16, 2023,
from https://www.mountsinai.org/health-library/surgery/exchange-
transfusion#:~:text=Exchange%20transfusion%20is%20a%20potentially,fresh
%20donor%20blood%20or%20plasma.

The Royal Children's hospital melbourne. The Royal Children's Hospital Melbourne.
(n.d.). Retrieved March 16, 2023, from
https://www.rch.org.au/rchcpg/hospital_clinical_guideline_index/Phototherapy_for
_neonatal_jaundice/