Down syndrome is the most common chromosomal anomaly, occurring in about 1 in 700 to 800 births. Show
What is Down Syndrome?A drawing of the facial features of a child with Down syndrome.
PathophysiologyTwo different hypotheses have been proposed to explain the mechanism of gene action in Down syndrome: developmental instability (ie, loss of chromosomal balance) and the so-called gene-dosage effect. Trisomy 21 (also known by the karyotype 47,XX,+21 for females and 47,XY,+21 for males.
Statistics and IncidencesDown syndrome have been observed in nearly all countries and races. Facial features of a baby with Down Syndrome.
CausesThe cause of DS is not known, although several theories dominate. Other common features include: a flat and wide face, a short neck, excessive joint flexibility, and a protruding tongue due to a small mouth and relatively large tongue.
Clinical ManifestationsOn physical examination, patients with trisomy 21 have characteristic craniofacial findings, such as the following:
Assessment and Diagnostic FindingsThe diagnosis of Down syndrome is most commonly made by prenatal screening followed by definitive diagnostic testing. Ultrasound of fetus with Down syndrome displaying a large bladder. Enlarged NT and absent nasal bone in a fetus at 11 weeks with Down syndrome.
Medical ManagementDespite continued work, no notable medical treatments for intellectual disability associated with Down syndrome have been forthcoming. However, the dramatic improvements in medical care described below have greatly improved the quality of life for patients and increased their life expectancy. Physical characteristics: Extra space between big toe and second toe, abnormal patterns on the fingertips and short fingers.
Pharmacologic ManagementThe standard immunizations and well-child care should be provided. In addition, specific manifestations of the syndrome and associated conditions must be addressed, as follows:
Nursing ManagementNursing management for a child with Down syndrome are: Nursing AssessmentAssessment of a child with Down syndrome include:
Nursing DiagnosesBased on the assessment data, the major nursing diagnoses are:
Nursing Care Planning and GoalsThe major goals for a child with Down syndrome are:
Nursing InterventionsNursing interventions are:
EvaluationGoals are met as evidenced by:
Documentation GuidelinesDocumentation in a child with Down’s syndrome include:
Practice Quiz: Down SyndromeHere’s a 5-item quiz for Down Syndrome study guide. Please visit our nursing test bank page for more NCLEX practice questions. 1. Which of the following assessment findings would lead the nurse to suspect Down syndrome in an infant? A. Transverse palmar crease 1. Answer: A. Transverse palmar crease.
2. When planning care for an 8-year-old boy with Down syndrome, the nurse should: A. Plan interventions according to the developmental levels of a 5-year-old
because the child will have developmental delays. 2. Answer D. Assess the child’s current developmental level and plan care accordingly.
3. A nurse is monitoring the intake and output of a toddler with Down syndrome receiving furosemide (Lasix) IV. Which of the following method is the most appropriate for measuring the urine output? A. Weighing the diaper. 3. Answer: A. Weighing the diaper.
4. Dustin who was diagnosed with Down syndrome has Hirschsprung’s disease. He developed fever and watery explosive diarrhea. Which of the following would Nurse Joyce do first? A. Monitor the child every 30 minutes. 4. Answer: B. Notify the physician immediately.
5. A patient with Down syndrome recently started on phenytoin (Dilantin) to control simple complex seizures is seen in the outpatient clinic. Which information obtained during his chart review and assessment will be of greatest concern? A. The gums appear enlarged and inflamed. 5. Answer: B. The white blood cell count is 2300/mm3.
Which action would the nurse perform immediately according to priority of care for a client with tonicHelp the person lie down, and place something soft under the head and neck. Keep the person (especially the head) away from sharp or hard objects, such as the corner of a table.
What is the nurse's most important intervention for a client having a tonicIf you are with someone who has a tonic-clonic seizure: Do not put anything in their mouth. Turn them onto their side. Make sure the area around their body is clear of objects that could hurt them.
Which medication would the nurse associate with the primary drug of choice when treating tonicPrimary generalized tonic-clonic seizures respond to valproic acid, topiramate, or lamotrigine.
Which measures should the nurse implement when caring for a client in an active seizure?Maintain in lying position, flat surface; turn head to side during seizure activity; loosen clothing from neck or chest and abdominal areas; suction as needed; supervise supplemental oxygen or bag ventilation as needed postictally.
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