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DOWN SYNDROME

Precious So
NSG 315
Pediatric Nursing
National University
March 9, 2009
OBJECTIVES
To identify & understand the following about DS:
 Definition & its 3 types
 Etiology & Pathophysiology
 Incidence/Prevalence
 Risk Factors
 Clinical Manifestations
 Diagnostic Tests
 Treatments
 Nursing & Medical Management
 Nursing Diagnoses & Interventions
 Prevention & Education
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.

National Institute of Child Health and Human Development


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.

Emedicine
KARYOTYPE OF TRISOMY 21
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).

National Down Syndrome Society


INCIDENCE/PREVALENCE
 DS is the most common chromosomal abnormality.
 According to the NDSS, one in every 733 babies is born with
DS.
 There are more than 400,000 people living with DS in the
United States.
 Occurs in people of all races and economic levels.
 Incidence of births of children with DS increases with the age
of the mother. But due to high fertility rates in younger
women, 80% of people with DS are born to women under 35.

National Down Syndrome Society


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.

ATI: Nursing Care of Children


Centers for Disease Control and Prevention
CLINICAL MANIFESTATIONS

 Microcephaly
 Flat face with upward slant to the eye, short & wide neck, small, low-set ears, flat nasal bridge & a
protruding tongue.
 Brushfield 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
Complications
 According to the NICHD, 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
 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 (1/150)
MedlinePlus
American Academy of Pediatrics
DIAGNOSTIC TESTS
 ACOG recommends that all 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.
 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.
National Association for Down Syndrome
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.
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 ht & wt 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
ATI: Nursing Care of Children
NURSING Dx & 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.
 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.
Timby & Smith, 2004
NURSING Dx & INTERVENTIONS
 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”.
 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.
ATI: Nursing Care of Children
Timby & Smith, 2004
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.
ATI: Nursing Care of Children
Emedicine
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
 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

ATI: Nursing Care of Children


National Down Syndrome Society
REFERENCES
 American Academy of Pediatrics. (2001). Health supervision for children with down syndrome. Retrieved
March 7, 2009, from http://aappolicy.aappublications.org/cgi/content/full/pediatrics;107/2/442
 ATI: Nursing Care of Children. (2007). Developmental disorders. pp.591-599. Assessment
Technologies Institute, LLC.
 Ball , J.W., & Bindler, R.C., (2008). Pediatric nursing: Caring for children. (4th ed.). New Jersey: Pearson.
 Centers for Disease Control and Prevention. (2005). Risk factors for down syndrome (trisomy 21):
Maternal cigarette smoking and oral contraceptive use in a population-based case-control study.
Retrieved March 7, 2009, from http://www.cdc.gov/ncbddd/bd/ds.htm
 Emedicine. (2007). Down syndrome. Retrieved March 7, 2009, from
http://emedicine.medscape.com/article/943216-overview
 MedlinePlus. (2007). Down syndrome. Retrieved March 7, 2009, from
http://www.nlm.nih.gov/medlineplus/ency/article/000997.htm
 National Down Syndrome Society. (2009). Down syndrome fact sheet. Retrieved March 7, 2009,
from, http://ndss.org/index.php?option=com_content&view=article&id=54&Itemid=74
 National Association for Down Syndrome. (2009). Facts about down syndrome. Retrieved March 7, 2009,
from http://www.nads.org/pages_new/facts.html
 National Institute of Child Health and Human Development. (2007). Down syndrome. Retrieved March 7,
2009, from http://www.nichd.nih.gov/health/topics/Down_Syndrome.cfm
 Ricci, S.R., Kyle, T., & Kyle, T., (2008). Maternity and pediatric nursing. Philadelphia, PA: Lippincott
Williams & Wilkins.
 Timby, B.K., & Smith, N.E., (2004). Essentials of nursing. Philadelphia, PA: Lippincott Williams & Wilkins.

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