Down syndrome (DS) is a genetic condition caused by an extra chromosome 21. It causes delays in physical and intellectual development. The document defines DS, discusses its etiology and pathophysiology, risk factors, clinical manifestations, diagnostic tests, treatments, nursing management, nursing diagnoses and interventions, and prevention and education strategies. The primary goals in managing DS are to address delays, prevent complications, promote independence, and connect families to support and educational resources.

1. DOWN SYNDROME
BY: PRECILLA C. STEPHEN

2. OBJECTIVES
To identify & understand the following about DS:
• Definition & its 3 types
• Etiology & Pathophysiology
• Risk Factors
• Clinical Manifestations
• Diagnostic Tests
• Treatments
• Nursing & Medical Management
• Nursing Diagnoses & Interventions
• Prevention & Education

3. DEFINITION
• DS, also called Trisomy 21, is a genetic condition that causes delays in
physical and intellectual development.
• There is extra genetic material from chromosome 21, so individuals with
DS have 47 chromosomes in total instead of the usual 46.

4. ETIOLOGY & PATHOPHYSIOLOGY
• DS is usually caused by an error in cell division called nondisjunction:
• During meiosis, one pair doesn’t divide & the whole pair goes to one daughter cell.
• In the resulting cells, one will have 24 chromosomes & the other will have 22.
• So if a sperm or egg with an abnormal of chromosomes merges with a normal mate,
the resulting fertilized egg will have an abnormal # of chromosomes.
• In Trisomy 21, one cell has two 21st chromosomes instead of one, so the resulting
fertilized egg has three 21st chromosomes.

5. KARYOTYPE OF TRISOMY 21

6. TYPES OF DOWN SYNDROME
• Trisomy 21 (95%): The extra 21 chromosome (three instead of the usual two)
produces a complement of 47 chromosomes.
• Translocation (3-4%): A segment of a 21 chromosome is found attached to other
pairs of chromosomes.
• Mosaicism (1-2%): Nondisjunction occurs at a later stage of cell division,
therefore, some cells have the normal complement of 46 chromosomes and other
cells 47 chromosomes (with an extra 21 chromosome).

7. RISK FACTORS
• Women who are 35 years or older are at the greatest risk for giving birth to an infant
with DS
• 35 years: 1/400 live births
• > 40 years: 1/110 live births
• According to the CDC, younger mothers (< 35 years) who smoke, use oral
contraceptives, and have a Meiotic II error are at an increased risk as well.
• Despite many years of research, advanced maternal age has been the only one factor that
is well established with DS.

8. CLINICAL MANIFESTATIONS
• Microcephaly
• Flat face with upward slant to the eye, short & wide neck, small, low-set ears, flat nasal bridge
& a protruding tongue.
• Brush field spots (tiny white spots on iris of eye).
• Short broad hands & feet with a single crease on the palm of their hands.
• Small pinky fingers that sometimes curve towards the thumb.
• Excessive space between large toe & second toe.
• Muscle hypotonia

10. Complications
• According to the NICHD (Eunice Kennedy Shriver National Institute of Child Health and
Human Development) , 95% of individuals with DS have mild to moderate mental
retardation.
• Delayed language, social, & motor development
• Growth retardation
• Congenital heart disease (50%)
• Atrial or Ventricular septal defect
• Respiratory infections
• Pneumonia
• Vision problems
• Cataracts

11. Complications
• Hearing loss ( > 60%)
• GI blockages/problems
• Esophageal atresia, Duodenal atresia, Celiac disease
• Thyroid dysfunctions
• Sleep apnea (50%-75%)
• Increased risk for Dementia
• Higher risk for ALL (Acute Lymphocytic Leukemia)- (1/150)

12. DIAGNOSTIC TESTS
• Pregnant women be offered screening with the option for invasive diagnostic testing for DS,
regardless of age.
• Chorionic Villus Sampling (CVS): sample of placenta taken either through the cervix or
through a needle inserted through the abdomen. Test can be performed between 8 and 12 weeks.
• Amniocentesis: Removal of a small amount of amniotic fluid through a needle inserted in the
abdomen. Cells are analyzed for the presence of chromosomal abnormalities. Test performed
between 12 and 20 weeks of pregnancy.

14. DIAGNOSTIC TESTS
• Percutaneous Umbilical Blood Sampling (PUBS): Uses a needle to
retrieve a small sample of blood from the umbilical cord. Usually
performed after 20 weeks.
• After the baby is born, if DS is suspected, a Karyotype – a blood or
tissue sample stained to show chromosomes grouped by size, #, and
shape – can be performed to confirm the diagnosis.

16. TREATMENTS
• DS is not a condition that can be cured.
• Treatment is directed at addressing the individual concerns of a particular
individual (e.g. certain heart defects may require surgery).
• Timely surgeries for cardiac and GI anomalies are necessary to prevent serious
complications.
• Because the risk of vision problems, hearing loss, and infection is increased,
screening and treatment may be necessary.

17. Nursing Management
• Nurses should obtain a hx of mother’s pregnancy, birth hx, & genetic testing.
• Observe physical characteristics of DS
• Assess the following:
• Respiratory functioning due to poor muscle tone
• Heart sounds for presence of a murmur
• Infant’s ability to eat due to protruding tongue & mouth breathing
• Bowel functioning
• In an older child, assess height & weight and compare to appropriate growth chart
• Cognitive development
• Skin integrity due to tendency toward dry, rough, cracking skin
• Determine family knowledge, coping, & support
• Observe interaction & bonding between mother & infant
• Parental feelings about having a child with Down Syndrome

18. NURSING DIAGNOSIS & INTERVENTIONS
• Delayed growth and development r/t impaired ability to achieve developmental tasks
• Provide environmental stimulation in a supervised setting. Social interaction & activities are
essential for development in all children, but the child with cognitive impairment needs
much more environmental enrichment.
• Provide resources to the child & family of therapeutic programs, exercises, and activities
designed to address developmental delays in the early years in order to reach their
developmental potential later in childhood.
• Modify gross motor and sensory activities to accommodate the toddler’s limitations and
promote a sense of autonomy.

19. • Self-care deficit: Bathing & hygiene, dressing, feeding, toileting r/t cognitive impairment
• Consistent care by the same people in which the child can be encouraged to have some
control and perform age-appropriate tasks within the limitations of the disability helps to
provide a sense of trust & routine.
• Encourage independence & allow the child to make as many choices as possible to ensure
the child a better feeling of control & self-worth.
• Give the child positive reinforcement for demonstrating appropriate skills & behaviors to
promote similar behavior in the future.

20. • Impaired Verbal Communication r/t impaired receptive or expressive skills
• Enlist the help of a speech/language therapist who can help develop a program specific to
the child’s needs.
• Talk slowly & use pictures and articles when communicating with child because doing so
gives the child time to process what is being said & reinforces what is being communicated.
• Use a positive approach with examples & demonstrations since this method achieves better
results than using a constant stream of “don’t touch” or “stop that”.

21. • Risk for Infections r/t decreased muscle tone & poor drainage of mucous
• Teach family good handwashing to prevent the spread of bacteria & communicable diseases.
• Rinse the child’s mouth with water after feeding & at other times of the day when dry.
Mucous membranes are dry due to constant mouth breathing, which also increases the risk
for respiratory infection.
• Teach parents to perform postural drainage & percussion if needed to keep the lungs clear.

22. PREVENTION & EDUCATION
• No prevention for DS
• Absolutely nothing that anyone can do to prevent a trisomy & there is nothing that anyone can do to cause a
trisomy.
• Efforts of prevention are aimed at genetic counseling of couples who are preparing to have babies.
• screening test of AFP to determine chances
• Teach parents the importance of food & fluids to maintain adequate nutrition.
• Emphasize the need to balance adequate nutrition. Poor feeding can result in obesity later in life.

23. PREVENTION & EDUCATION
• Teach family how to prevent physical complications
• Avoid infection by engaging in good handwashing
• Increase fiber in diet to avoid constipation
• Encourage physical activity
• Advise parents to seek regular checkups for their child

24. • Identify and refer child/parents to support groups
• Down Syndrome Association of San Diego
• Early intervention is the key:
• Physical therapy: teach gross & fine motor movement skills
• Speech therapy: help improve language skills
• Occupational therapy: develops & master skills for independence
• Special education programs