Down Syndrome

References

Ferris State University

Nursing 300

Jenna Ruimveld

What: Down syndrome is a genetic disorder that involves 3 chromosomes (normally 2) in the 21st position of the chromosomal chain. Also called “Trisomy 21” Occurrence: Down syndrome occurs in about 1 in 700 live births and in 2012 there is an estimated 400,000 people in the US with Down syndrome. It is the most frequently occurring chromosomal disorder. Etiology/Pathophysiology: Down syndrome is a chromosomal disorder in which there are three copies of the 21st chromosome. The most common cause of trisomy 21 is nondisjunction (95%), followed by mosiacism (1-2%) and translocation (3 to 4%). There is an increase risk for Down syndrome with an increase in maternal age. Lifespan/Cultural Considerations Down Syndrome starts at conception and further affects fetal development. It can occur in all genders and races, only a slight increase in occurrence in males.

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Clinical Manifestations: Down

syndrome affects fetal development. Signs and symptoms can range from mild to moderate.

-Abnormal Body Development: Flat nasal bridge, low-set ears, slanted eyes with epicanthus, thick protruding tongue; short arms/legs/hands, and abnormal gap between toes.

-Impaired Cognitive Development: Mild (IQ 50-70) to moderate (35-50)

decreased mental ability.

Common Health Concerns: -Hearing Loss, vision problems, obstructive sleep apnea, otitis media, eye disease, and congenital heart defects.

Potential Complications: - Complications for patients with DS increase with age. These include heart defects, leukemia, infectious diseases, dementia, sleep apnea, obesity, thyroid and GI problems, hearing loss, and seizures.

Mortality: 76% of fetuses with Down syndrome abort spontaneously or are stillborn; 20% of infants die before age 10; those living past 10 years of age have a lifespan expectancy of 60.

Risk Factors: - Maternal age over 35

- Previous pregnancy in which

the fetus had DS

Treatment - Currently there is treatment for Down syndrome. However, preventative measures can be done such as gene mapping and gene therapy to predict the likelihood of occurrence.

NCLEX Questions: 1) When planning care for a 8-year-old boy with Down syndrome, the nurse should: a. Plan interventions according to the developmental level of a 7-year-old child because that’s the child’s age b. Plan interventions according to the developmental levels of a 5-year-old because the child will have developmental delays c. Assess the child’s current developmental level and plan care accordingly d. Direct all teaching to the parents because the child won’t understand 2) A nurse is planning a seminar on sex chromosome abnormalities. The nurse should know that a female child born with 45,XO and no Barr bodies most likely has: a. Down Syndrome b. Kilnefelters Syndrome c. Turner Syndrome d. Tay-Sachs Disease 3) After talking with the parents of a child with Down Syndrome, which of the following would the nurse identify as an appropriate goal of care for the child? a. Encourage self-care skills in the child b. teaching the child something new each day c. encouraging more lenient behavior limits for the child d. achieving age-appropriate social skills 4) The most common type of Down Syndrome is: a. Translocation b. Mosaic c. Trisomy 21 d. Deletion

Down Syndrome and Nursing

Nursing Diagnoses - Grieving r/t loss of perfect child or birth of child with congenital defect.

Family/Client Outcomes: Family will utilize effective conflict management strategies; Client/Family will accept assistance in meeting the needs of the family from friends/extended family

- Social isolation r/t delay in accomplishing developmental tasks

Client Outcomes: Patient will participate in activities and programs at level of ability and desire. Patient will describe feelings of self-worth

- Impaired home maintenance r/t insufficient support systems

Client Outcomes: Patient will maintain a healthy environment; Patient will use community resources or support to assist with home care needs

- The role of the nurse when working with patients with Down syndrome is education. The client, young or old, should be involved in all aspects of healthcare and the teachings should be tailored to the client’s developmental level. Teaching self-care skills allow Down syndrome patient to become more independent and socially functioning.

- An increase in Down syndrome occurrence would indicate a need for further research about a cure for Down syndrome as well as extensive prenatal testing to predict a parent’s risk for having a child with Down syndrome.

Other Healthcare Providers Involved: Collaborative management of Down syndrome involves many different types of doctors. It begins with genetic counselor, pediatric doctors, and general physicians. Specialized doctors such as cardiologists, therapists, and other health specialists may become involved with increased age or severity of symptoms.