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 & Pathophysiolo Pathophysiology gy 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 21 st 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%): Nondisjuncti Nondisjunction on 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.
Growth retardation Congenital heart disease (50%)
Cataracts
Hearing loss ( > 60%) GI blockages/problems
Pneumonia
Vision problems
Atrial or Ventricular septal defect
Respiratory infections
Delayed language, social, & motor development
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 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 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 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 w t 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 disability helps to provide a sense of trust & routine. Encourage independence & allow the child to make as many choices as possible p ossible 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. 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 th e 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
Advise parents to seek regular re gular checkups for their child Identify and refer child/parents to support groups
Avoid infection by engaging in good handwashing Increase fiber in diet to avoid constipation Encourage physical activity
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). (2001). Health 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). (2007). Developmental Developmental disorders. disorders . pp.591-599. Assessment Technologies Institute, LLC. Ball , J.W., & Bindler, R.C., (2008). Pediatric (2008). Pediatric nursing: Caring for children. (4th ed.). New Jersey: Pearson. Centers for Disease Control and Prevention. (2005). Risk (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 (2007). Down syndrome. Retrieved March 7, 2009, from http://emedicine.medscape.com/article/943216-overview MedlinePlus. (2007). Down (2007). Down syndrome. syndrome . Retrieved March 7, 2009, from http://www.nlm.nih.gov/medlineplus/ency/article/000997.htm National Down Syndrome Society. (2009). (2009). Down 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). (2009). Facts 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 (2007). Down syndrome. 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 (2008). Maternity and pediatric nursing. Philadelphia, PA: Lippincott Williams & Wilkins. Timby, B.K., & Smith, N.E., (2004). Essentials (2004). Essentials of nursing. Philadelphia, PA: Lippincott Williams Williams & Wilkins.
