INTRODUCTION

What is Down syndrome?

Down syndrome is a condition caused by abnormal cell division 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.

Some common physical features of Down syndrome include:

● A flattened face, especially the bridge of the nose

● Almond-shaped eyes
● A short neck
● Small ears, eyes, nose, hands, feet
● A tongue that tends to stick out of the mouth
● Tiny white spots on the iris (colored part) of the eye
● A single line across the palm of the hand (palmar crease)
● Small pinky fingers that sometimes curve toward the thumb
● Shorter in height as children and adults
Types of Down Syndrome

Trisomy 21: most common

With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome
21 instead of the usual 2 copies.

Mosaic Down syndrome: mix

For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21,
but other cells have the typical two copies of chromosome 21.

Translocation Down syndrome: attached/ congenital

This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or
“trans-located” to a different chromosome rather than being a separate chromosome 21.

Risk factors
● Mother who are 35 years old and older
● Carrier of the genetic translocation form of Down syndrome
● Having a child with Down syndrome

Diagnosis
● Screening tests (blood test and ultrasound)
● Diagnostic tests (CVS, Amniocentesis, Percutaneous Umbilical Blood sampling PUBS)

Some of the more common health problems among children with Down syndrome
include:

● Hearing loss
● Obstructive sleep apnea
● Ear infections
● Eye diseases
● Congenital Heart Defects
Atrioventricular Septal Defect (AVSD)- is characterized by holes between either the
upper or lower chambers of the heart, the atria and the ventricles, respectively.
Patent Ductus Arteriosus- occurs when a channel called the ductus arteriosus that
connects a fetus’ heart and lungs in utero does not close after birth.
Tetralogy of Fallot- a cardiac anomaly that refers to a combination of four related heart
defects that commonly occur together. The four defects are: Ventricular septal defect
(VSD), Overriding aorta, Pulmonary stenosis, Right ventricular hypertrophy

Treatment
Down syndrome is a lifelong condition. Services early in life will often help babies and children
with Down syndrome to improve their physical and intellectual abilities.
Early intervention for infants and children with Down syndrome can make a major difference in
improving their quality of life. Because each child with Down syndrome is unique, treatment will
depend on individual needs.

Team Care
These services include:
● Speech- language therapy
● Occupational,
● Emotional and behavioral therapy
● Physical therapy,
● Medication

Prevention
There's no way to prevent Down syndrome. If you're at high risk of having a child with Down
syndrome or you already have one child with Down syndrome, you may want to:

1. Consult a genetic counselor before becoming pregnant.

2. Plan Ahead
Nutrition- Taking folic acid supplements before and during early pregnancy may not only
help prevent neural tube defects in babies, but it may also reduce the risk of Down
syndrome.
3. Screening and diagnostic tests

CEPHALOCAUDAL ASSESSMENT
I. Skin
Peter’s skin texture is soft and velvety. There were no wounds, lesions and lumps
observed during examination.

Norms
Must be smooth and soft, oily/ moist, and have no lesions. (Maternity and Pediatric
Nursing by Scott and Susan, 2013).

Analysis
Peter’s skin has a smooth texture and velvety without any wounds, lesions and lumps.

II. Hair and Nails

Peter’s hair is evenly distributed, smooth and soft but has thin hair strands. His nails are
pinkish, smooth and intact. The cuticles are smooth and have no inflammation.

Norms
 Must be evenly distributed, smooth, and soft, coarse and fine, and no lice. The nails
must be transparent, pinkish, firm, smooth, and not convex with surrounding smooth cuticles,
intact and without inflammation & have good hygiene (Maternity & Pediatric Nursing by Scott
and Susan, 2013)

Analysis
Peter’s hair and nails are normal.

III. Head
Peter’s head is small relating to his chest. It measured 30 cm.

Norms
Normal head circumference is often related to chest circumference. At birth, the average
infant’s head is 35 cm and generally varies only by 1 or 2 cm. (Kozier & Erb’s Fundamentals of
Nursing Australian Edition, 2015)

Analysis
The client’s head is abnormal.

IV. Eyes
Peter’s eyes are stanted upwards and there are prominent folds between the eye and
nose. There is also presence of small white spots on the iris called Brushfield’s spot. Strabismus
is also present.

Norms
The newborn can follow large moving objects and blinks in response to light or sound.
(Kozier & Erb’s Fundamentals of Nursing Australian Edition, 2015)

Analysis
The client’s eyes are abnormal.

V. Ears
Peter’s ears are small. There is also minimal response to Moto reflex. Upon assessment,
there are also presence of fluid buildup in the middle ear (Serous otitis media)

Norms
Newborns with intact hearing will react to a startle with a loud noise, a reaction called the
Moro reflex or startle reflex. (Kozier & Erb’s Fundamentals of Nursing Australian Edition, 2015)

Analysis
The client’s ears are abnormal.
 VI. Nose
Peter has a flattened midface and narrowed nasopharynx. There were no signs of
respiratory distress.

Norms
The nose is midline in the face, the septum is straight, and the nares are patent. No
discharge or tenderness is present. Turbinates are pink and free of edema (Health Assessment
in Nursing, Sixth Edition, Webber & Kelley). The nose must be patent has the same color as the
face, is smooth, symmetric, nasal structure is a firm stable, and has no discharge (Maternity &
Pediatric Nursing by Scott and Susan).

Analysis
Peter has an abnormal nasal feature and his nasopharynx is narrowed due to his
flattened midface.

VII. Mouth
Peter’s lips, tongue and gums are pinkish, moist, smooth and soft. No presence of lesion
but his tongue tends to stick out of his mouth.

Norms
The mouth should be pink, moist, symmetrical, smooth, and soft, and no lesions. Gums
should be pinkish in color, moist and hard, intact, no lesions. Must be red, slightly rough on the
top surface at the midline, and can move freely (Maternity & Pediatric Nursing by Scott and
Susan).

Analysis
Based on the assessment, Peter’s tongue protrudes most of the time because of genetic
differences.

VIII. Genitalia
Peter’s genitals like the penis and testicls were smaller than average. Other than that,
everything is normal

Norms
Full term infants' testes are lower in the scrotum many rugae have developed. Sexually
mature with normal signs of masculinization and secondary sex characteristics with normal
penis and scrotum. A smaller testicular size was detected in (23.8%) of the Down's syndrome
patients.

Analysis
 Peter had minor genital underdevelopment in relation to DS

IX. Thorax, lung, and abdomen

Peter has a bell-shaped chest and only has 11 pairs of ribs, yet there was no respiratory
distress noted. Umbilical hernia was also noticed during the examination. In addition, he is at
high risk of having congenital heart disease.

Norms
The chest wall must be intact with no tenderness and masses. There’s a full and
symmetric expansion and the thumbs separate 2-3 cm during deep, has quiet, rhythmic, and
effortless respirations. The abdomen has unblemished skin and is uniform in color. The
abdomen has a symmetric contour, there is symmetric movement (Maternity & Pediatric Nursing
by Scott and Susan).

Analysis
There are abnormalities noted during Peter’s thorax, lung and abdomen examination. He
is also at a high risk of acquiring congenital heart disease.

X. Extremities
Peter’s arms and legs are short compared to normal term babies. He has small hands,
fingers and feet. And he only has a single crease across the palms of his hands (single palmar
crease).

Norms
The extremities should be complete, symmetrical in size and length. No clubbing of
fingers and nails should have no presence of cyanosis, palms must be normal in color and
texture. (Maternity & Pediatric Nursing by Scott and Susan).

Analysis
Peter’s extremities are small due to slow physical development related to down
syndrome. Having a single palmar crease is known to be correlated with some hereditary
abnormalities and diseases such as down syndrome.
 TARLAC STATE UNIVERSITY
COLLEGE OF SCIENCE
DEPARTMENT OF NURSING
Awarded Level III Status by the Accrediting Agency of Chartered Colleges and Universities in the Philippines

CLINICAL CASE ANALYSIS

Name of Patient: Peter Age: 1-month old Gender: Male
Address: Quezon Province Date Admitted: 03-01-2022
Diagnosis:
NURSING HISTORY:
Mr. and Mrs. Reyes lives in Quezon Province, both 45 years old and have 5 children. Their main source of income
is selling vegetables, the family encounters difficulties of life like lack of finances. Mr. Reyes has a family history
of Down syndrome. Mrs. Reyes gave birth to a baby boy named Peter who was advised to be transferred for a
higher care for medical intervention because he shows a down syndrome features.

History of past illness

 The head of the family has history of Down syndrome
 The mother has no pre-natal checkup attended due to financial problem.
 Mrs. Reyes never took supplementary vitamins.
 Mrs. Reyes skips meals most of the time.
History of present illness
 Peter is showing signs of Down syndrome such as:
 Flattened face
 Head is small relating to his chest.
 There is also presence of small white spots on the iris called Brushfield’s spot. Strabismus is also present.
 Upon assessment, there are also presence of fluid build-up in the middle ear (Serous otitis media)
 Underdeveloped genital
 Single palmar crease
 Shorter in length
PATHOPHYSIOLOGY:

BOOK BASED PATHOPHYSIOLOGY

Pathophysiology
The extra chromosome 21 affects almost every organ system and results in a wide spectrum of
phenotypic consequences. These include life-threatening complications, clinically significant
alteration of life course (eg, intellectual disability), and dysmorphic physical features. Down
syndrome decreases prenatal viability and increases prenatal and postnatal morbidity. Affected
children have delays in physical growth, maturation, bone development, and dental eruption.
Two different hypotheses have been proposed to explain the mechanism of gene action in Down
syndrome: developmental instability (ie, loss of chromosomal balance) and the so-called gene-
dosage effect. 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.
The extra copy of the proximal part of 21q22.3 appears to result in the typical physical phenotype,
which includes the following:
Intellectual disability - Most patients with Down syndrome have some degree of cognitive
impairment, ranging from mild (intelligence quotient [IQ] 50-75) to severe impairment (IQ 20-35);
patients show both motor and language delays during childhood
Characteristic facial features
Hand anomalies
Congenital heart defects - Almost half of affected patients have congenital heart disease, including
ventricular septal defect and atrioventricular canal defect

PATIENT BASED PATHOPHYSIOLOGY

DIAGNOSTIC PROCEDURE:
 Prenatal Screening for Down Syndrome
 A blood test enables a health care provider to check for "markers," such as certain proteins,
in the mother's blood that suggest an increased likelihood of Down syndrome.
 An ultrasound can detect fluid at the back of a fetus's neck, which sometimes indicates Down
syndrome. The ultrasound test is called measurement of nuchal translucency. During the first
trimester, this combined method results in more effective or comparable detection rates than
 methods used during Prenatal Diagnostic Testing for Down Syndrome
 Amniocentesis, which takes a sample of amniotic fluid, the fluid that surrounds your unborn
baby. It is usually done between the 15th and 20th week of pregnancy.
 Chorionic villus sampling (CVS), which takes a sample from the placenta, the organ that
nourishes your unborn baby in your uterus. It's usually done between the 10th and 13th
week of pregnancy.
 Percutaneous umbilical blood sampling (PUBS), which takes a blood sample from the
umbilical cord. PUBS gives the most accurate diagnosis of Down syndrome during pregnancy,
but it can't be done until late in pregnancy, between the 18th and 22nd week. Diagnosis After
Birth Physical Examination
 This includes flattened face and nose, almond-shaped eyes that slant upward, small ears and
mouth, tiny white spots on the eye, poor muscle tone and developmental delays. Blood test
The blood sample is analyzed to determine the number of the baby's chromosomes and to
confirm diagnosis.
MEDICAL MANAGEMENT:
 Physical therapy
 Donepazil

NAME OF STUDENTS:

DATE SUBMITTED: February 08, 2021 C.I’S SIGNATURE:

 ASSESSMENT DIAGNOSIS PLANNING INTERVENTION RATIONALE EVALUATION
Subjective Delayed After 1 Independent This is for the health benefit The child will
“napansin ko sa growth and month of Provide adequate that everyone needs for be able to
anak ko na development nursing nutrition such as fruits good nutrition. perform self-
parang di niya related to intervention and vegetables. care and
nagagawa yung impaired the child will express the
mga kayang ability to be able to Assess the ability of To avoid nor prevent skill they had
gawin ng achieve perform the child to swallow chocking and aspiration on their age
normal na developmental self-care and food. Goal met
bata” tasks. other
verbalized by activities Provide information to To give support for the
the parents that the family for the healthy eating of the child
appropriate proper way of giving
Objective for age food.
Flattened nose to reflect current thinking
Excess skin at Assess the behavior of about the most positive and
the nape of the the child such as on effective ways to help
neck how’s their children gain understanding
Single crease in communication with and learn skills that will help
the palm of the others and their them to manage their own
hand interaction behavior
Small ears
Upward Provide anticipatory to clarify misconceptions
slanting eyes guidance for and assist them in dealing
Wide short parents/caregivers with reality of situation.
hands with regarding
short fingers expectations for
Poor muscle child’s development.
tone
Tongue that Encourage setting of to avoid overwhelming the
tends to stick short-term, realistic patient with tasks and to
out of the goals for achieving easily monitor the
mouth developmental development
potential.

Provide positive Encourages continuation of

feedback for efforts, efforts, thus improving
successes, and outcome
adaptation while
minimizing failures.

Providing a Safe High-quality environments

Environment Indoors can help keep
and Outdoors children safe from injury. 

Collaborative
Recommend to enhance muscle tone and
involvement in regular strength, and appropriate
 exercise or sports body building.
medicine program

Collaborate with to help build motor skills,

Physical therapist increase muscle strength,
and improve posture and
balance.

Consult Speech- can help children with Down

language therapist syndrome improve their
communication skills and
use language more
effectively

Assessment Diagnosis Planning Intervention Rationale Evaluation

Subjective Knowledge -After 1hr of Independent -After 1hr of
“Di po namin deficit proper nursing -Assess -Like any child, those proper
alam ang (parents) intervention, understanding of children with Down nursing
gagawin namin related to the client will parents about down syndrome in cohesive and intervention
sa anak namin, down verbalize the syndrome. (give harmonious families were the goal was
wala po kaming syndrome proper explanation about also less likely to have met as
idea kaming childcare understanding child’s condition) behavior problems and evidenced b
dalawang mag in handling the more likely to have higher Families
asawa.” As child with levels of functioning. participate
verbalized by down Mothers expressing poor actively in th
the mother syndrome relationships with the child care of
and family were more likely children wit
Objective to have high stress scores. down
(+) Restless syndrome
(+) Anxious -Provide emotional -The family caregiver needs either.
support and support during these trying Therefore,
motivation. times; they need strong goal was me
support and guidance from
the time the child is born.

-Give parents -Parents need to encourage

information on the their children to eat a high
proper way / correct fiber, antioxidant rich diet to
in giving good food. reduce oxidative stress and
(fiber-rich foods inflammation and ensure
such as vegetables, optimum digestion, bowel
fruit, pulses, movement and gut health.
wholegrain cereals
and whole meal
bread)

-Motivate parents to -It was found that social

provide skills training had a
opportunities for significant role in improving
children to play with motor and communication
the same age child skill in the child with
to easily socialize. intellectual disability.
Provide flexibility /
freedom to children
fatherly expression.

-Give the motivation -An enriching and

in the parents in stimulating home
order to provide an environment fosters healthy
adequate growth and brain
environment for development by providing a
children with down child with love, emotional
syndrome. support, and opportunities
for learning and exploration.
-Encourage parents
to have the child’s -Frequent consultations are
hearing and vision a must.
checked regularly.

-Encourage the
participation of - Motor development
parents in giving involves physical activities,
motor exercises and and the child's brain is a big
instructions so that part of it. It takes the brain
children can be able and the body's muscles to
to speak. allow these skills to develop,
connect and build with all
other parts of your child's
development – language,
social-emotional, and
behavioral.
Independent
-Medication -Patient with DS is at risk
(donepezil) as in developing dementia.
prescribed by
physician.
 ASSESSMENT DIAGNOSIS PLANNING INTERVENTION RATIONALE EVALUATION
Subjective: Impaired After 1 INDEPENDENT: After 1 month of
“Alam kong may mali parental month of Educate the Helps clarify nursing intervention
sa anak ko, at bilang attachme nursing parent regarding realistic the client:
nt related expectations.
isang magulang intervention child growth and  The parents
to
kailangan kong mas ineffective the patient development, demonstrate
bigyan ito ng adaptatio will: addressing d
atensyon ngunit dahil n to  Engag parental engagement
sa hirap ng buhay stressors e in perceptions. in
hindi ko na associated mutu interaction
with To provide an
maasikaso.” Stated ally Provide healthy with the
economic environment
by the Mother. problem. satisf household for the conducive to the infant.
ying infant. growth of the  Parents
Objective: intera infant. associated
(+) Restless ction with
(+) Confused with programs in
(+) Ungroomed infant Assist parents in To help the
the
appearance parents to identify
. identifying and the needs and community.
(+) Fatigue prioritizing family prioritized them
(+) Irritable strength and GOAL MET
for the control of
needs. finances.

To promote
Establish routine balancing of time
time for activities between home and
inside the home work.
and in work.

Develop support To make the

parents at ease
systems
whenever they are
appropriate to not present inside
situation. the home.

Advice mother
to be a guide To avoid
and untoward additional stressor.
behaviors should
not be directed
to the infant.
 DEPENDENT:
Administer The main
pharmacological
stimulants such
actions of this drug
as donepezil as are believed to
ordered by the occur as the result
doctor. of this enzyme
inhibition,
enhancing
cholinergic
transmission,
which relieves the
symptoms of
Alzheimer's
dementia.

COLLABORATIVE:

Involve the To maximize the

parent in use of community
counseling which resources as well
involves other as to have a cost-
organizations free service.
inside the
community.

Advice the To initiate bonding

parents to between parents
explore and infant.
community
resources to help
in financial
matters, for
instance home
based work.

ROUTE OF
ADMINIST CONTRAI RATIONALE
SIDE
RATION, NDICATI NURSING
NAME OF MECHANISM EFFECTS,
DOSAGE INDICATION ON RESPONSIBILIT
THE DRUG OF ACTION ADVERSE
AND IES
EFECTS
FREQUENC
Y
Drug name: Route: It enhances For the treatment -In Nausea, BEFORE:
Donepezil Orally cholinergic of mild, moderate patients diarrhea, Check Doctor’s -To avoid
Brand function in the and severe with headache, Order and MAR errors upon
name: central Alzheimer's known insomnia, giving
Dopezil nervous disease. history dizziness, medication.
system by For the treatment of mild
Classificatio Stock dose: increasing the of vascular hypersen muscle Record Client’s -To have
n: Tablet: concentration dementia sitivity to cramps, Vital signs baseline data
Therapeutic 5mg, 10 of (dementia donepezi fatigue,
: mg and 23 acetylcholine associated with l, other vomiting,
anti- mg through cerebrovascular piperidin anorexia, DURING:
Alzheimer’s reversible disease). e depressio Introduce self -To establish
agents; inhibition of derivativ n, trust and
Pharmacolo its hydrolysis es abnormal rapport
gic: by dreams,
cholinergics acetylcholines weight Explain to the -To give the
(cholinester terase (AChE). loss, parents of the parents
ase arthritis, patient the knowledge
inhibitors) drowsines purpose of about the
PEAK: s, medication. medication
absorbed syncope, and gain
Pregnancy slowly, but frequent cooperation.
Category: C completely urination.
from the gut,
reaching peak
plasma levels Adverse
in 3 to 4 hours Effect:
Overdose HEALTH
may result TEACHINGS
in -Not a cure for
cholinergi Alzheimer’s
c crisis disease
(severe but may slow
nausea, progression of
increased symptoms.
salivation,
diaphoresi - Tell caregiver
s, to give
bradycardi drug just
a, before
hypotensi patient’s
on, bedtime.
flushed
skin, -Tell patient
abdominal and
pain, caregiver not
respirator to break
y or crush
depressio tablets.
n seizures,
cardioresp -Instruct parent
iratory to report
collapse) bothersome
side effects.

-Report if
suspected
adverse effect
occurred.