Saint Louis University Baguio City School of Nursing

CASE PRESENTATION
Down Syndrome
(Community Duty; MTW; Amgaleyguey, Buguias, Benguet)

PRESENTERS:

LUMIBAO, Jommel Ryan C. EVANGELISTA, Tiffany Blanca BAGASAN, Alphonse Viktor C. RAMOS, Kimberly Anne M. TORIO, Diana SC.
BSN IV-D Group 2

SUBMITTED TO:

Ms. Genevieve Pablito, RN

DATE SUBMITTED: August 10, 2011

DOWN SYNDROME

Introduction Down syndrome was first described in 1866 by Dr. John L. H. Down (18281896), an English physician. 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. 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. Etiology In each cell, there are 23 distinctive pairs or 46 total chromosomes. When the baby is conceived, the baby receives 23 chromosomes from each parent, for a total of 46 chromosomes. Nondisjunction happen when a sperm or an egg cell contain 24 chromosomes. That baby will have a total of 47 chromosomes. The extra chromosome in Down syndrome is labelled number 21. Pathophysiology DS is usually caused by an error in cell division called nondisjunction: During meiosis, one pair doesnt 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. 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). 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. Diagnosis Down syndrome is diagnosed one of two ways: 1. Right after birth - using some subtle differences in the baby's appearance. 2. During pregnancy - using a chromosome test called a karyotype Symptoms and Effects Babies with Down syndrome tend to be overly quiet, less responsive, with weak and floppy muscles. A number of physical signs may be present: flat appearing face small head flat bridge of the nose may have eyes that slant upward small ears that may fold over at the top small mouth, which causes the tongue to stick out and to appear overly large rounded cheeks an unusual, deep crease across the centre of the palm (called a simian crease) a malformed fifth finger a wide space between the big and the second toes overly-flexible joints (sometimes referred to as being double-jointed) shorter than normal height How Will Children With Down Syndrome Develop Compared To Other Children? Development in a baby and child with Down syndrome occurs at a much slower than normal rate. Because of weak, floppy muscles (hypotonia), babies learn to sit up, crawl, and walk much later than their normal peers. Talking is also quite delayed. The IQ range of a Down syndrome people is in a trainable range. Special Health Problems Associated With Down Syndrome About 30-50% of all children with Down syndrome are found to have heart defects. Malformations of the gastrointestinal tract are present in about 5-7% of children with Down syndrome. Other medical conditions that occur in patients with down syndrome are ear infections, pneumonia, certain kidney disorders and etc.

Is There A Cure For Down Syndrome? Down syndrome is not a condition that can be cured. However, there are treatments and therapies for the physical and medical problems associated with Down syndrome. 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 mothers 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 Infants 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 Nursing Diagnoses and 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 toddlers 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. 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 childs 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 dont 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 childs 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. Prevention and 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 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. 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 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 Conclusion We as a community should not treat them differently from other people. They should have a special place in the heart of our community. Help them and love them. 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 populationbased 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&Ite mid=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.