DOWN SYNDROME

Precious SoNSG 315 Pediatric NursingNational UniversityMarch 9, 2009

OBJECTIVESTo 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 ChildrenCenters 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)

MedlinePlusAmerican 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 ChildrenTimby & 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 ChildrenEmedicine

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 ChildrenNational 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.