DOWN SYNDROME
PREPARED BY: MCN TEAM
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A child without Down Syndrome
A child without Down Syndrome has
normally with 46 chromosomes
• 23 from the mother
• 23 from the father
Overview of Down Syndrome
• a condition in which a person has an extra chromosome.
• Born by the presence of a full or partial extra copy of chromosome 21
• The most common chromosomal disorder.
Definition of Down Syndrome
Born with a triple
Chromosome 21
A child with Down
Syndrome has an
EXTRA 21
chromosomes
A total of 47
chromosomes
3 Main Types of Down Syndrome
Etiology
1. Trisomy 21 (most common)
• cause of down syndrome is not known
• greater risk for older women particularly those over 35 years of age
• paternal age is a factor, especially if the father is 55 years of age or older
• Developing embryo receives 3 copies of chromosome 21 instead of the usual
2
2. Translocation Down Syndrome (3-4% of DS cases)
• genetic aberration is usually hereditary
• Part of the entire extra chromosome 21 becomes attached (translocated) to
another chromosome, such as chromosome 14
• Total number of chromosomes remains 46
3. Mosaic Down Syndrome (rarest, 1-2% of cases)
• cell populations with both normal and abnormal chromosomes are present
• Syndrome may have fewer characteristics
Risk Factors
• older maternal age
• older paternal age
• already having one child
with Down syndrome
• carriers of the genetic
translocation
Relation between Maternal Age and
Estimated Risk of Down Syndrome
Age (yr) Risk of Down syndrome
20 1:1667
25 1:1250
30 1:952
35 1:400
40 1:110
45 1:30
49 1:11
Pathophysiology
• A disorder caused by nondisjunction prior to or at conception
• Due to nondisjunction, a cell contributes an extra critical portion
of chromosomes number 21s in all cells.
• The EXTRA genetic materials (chromosomes), cause delays
both mentally and physically.
Clinical Manifestations
Diagnostics
Laboratory Tests Diagnostic Tests
*can be detected prenatally around
16-18 weeks of gestation using ultrasound
& blood test
• Chorionic villus sampling and
amniocentesis ▪ Echocardiogram
• Triple test: AFP, unconjugated ▪ Vision and hearing screening
estriol and hCG ▪ Thyroid hormone level
• Ultrasound – nuchal ▪ Cervical x-rays
translucency
• Percutaneous cord blood ▪ Ultrasound
sampling
Therapeutic Management
*no cure for down syndrome
• Treatment is mainly symptomatic and
supportive
Note: Overall focus of therapeutic
management is to promote the child ’ s
optimal growth and development and
function within the limits of the disease.
Therapeutic Management
Multidisciplinary approach
• Cardiologist
• Ophthalmologist
• Gastroenterologist
• Nurses
• Physical therapist – to help strengthen muscles and improve motor
skills
• Occupational therapist – to help refine motor skills and make daily
tasks easier
• Speech therapist – to improve the ability to communicate
• Dietitian
• Psychologist – to help manage the emotional challenges that may
accompany Down syndrome
Therapeutic Management
• Surgery to correct serious
congenital anomalies
• Evaluation of sight and hearing is
essential
• Periodic testing of thyroid function
• Monitor nutrition, height, weight,
and general
aspects of well-child
• Growth hormone therapy
Nursing Care Management
• Promoting Nutrition
• Breastfeeding a baby with Down Syndrome is possible, and
the antibodies in breastmilk can help the child fight infections
• Appropriate eating habits
• High fiber intake
Early Intervention Therapy
❖Refers to a variety of specialized programs and resources available to
young children with developmental delay or other impairment
❖Provides stimulation and encouragement to children with down syndrome
❖Programs are individualized to meet the specific needs of each child
❖Help the development of gross and fine motor skills, language and self-
care skills
Health Teaching Guidelines for Children with
Down Syndrome
❖Have your child evaluated by a pediatric cardiologist
before 3 mos. of age, including an echocardiogram.
❖Take your child for routine vision and hearing tests.
❖Make sure your child gets regular medical care,
including a yearly thyroid test.
❖Have your child follow a regular diet and exercise
routine.
❖Make sure all family members perform proper hand
hygiene to prevent infection.
❖Monitor for signs and symptoms respiratory infection,
such as pneumonia and otitis media.
❖Make sure the child gets a cervical x-ray between 3 to
5 years of age to screen for atlanto-axial instability.
Health Teaching Guidelines for Children with
Down Syndrome
❖Discuss with your pediatrician the use of
pneumococcal respiratory syncytial virus
and influenza vaccines.
❖Begin early interventions therapy and
education as soon as possible.
❖Make sure your child brushes his or her
teeth regularly he or she should visit the
dentist every 6mos.
Providing Support and Education for the
Child and Family
• Assess the family how they feel on
having a Down Syndrome child
• Recognize and respect the needs and
provide ongoing education and
support for the child and family
• Needs meaningful education
programs
Complications Associated
with Down Syndrome
Prognosis
• Life expectancy for those with Down syndrome: Over 80% of individuals
with down syndrome survive to age 55 years and beyond.
After prenatal diagnosis, "90 percent
of Down syndrome children in
America are aborted.”
Source: CBS News, 2012
PROCLAMATION No. 157 (Feb. 18, 2002)
March 21
http://www.worlddownsyndromeday.org/
REFERENCES
• Hockenberry, M. and Wilson, D. (2016). Wong’s Nursing Care of Infants and Children . 1st Philippine Edition, Elvier.
(Singapore) Pte Ltd.
• Data and Statistics on Down Syndrome. Centers for Disease Control and Prevention (2019) Retrieved on April 11, 2020
from https://www.cdc.gov/ncbddd/birthdefects/downsyndrome/data.html
• Facts About Down Syndrome Centers for Disease Control and Prevention (2019) Retrieved on April 11, 2020 from
https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
• Nurse Key. (n.d.). Genetic conditions: Down syndrome. Retrieved May 6, 2025, from https://nursekey.com/genetic-
conditions-downs-syndrome/
