Question

A newborn girl is brought into the genetics department for a karyotype study. She was born of a 50y/o mother who feels that her child is developmentally retarded with characteristics "mongoloiddge" facial features; her pregnancy was uneventful. On physical examination, the child presents with generalized hypotonia; flattened face and low set ears; macroglossia; flattened nasal bridge and epicanthal folds;; single transverse palmar crease with widely split fixed S2 (due to an atrial septal defect). Karyotype reveals 47, XX; trisomy 21 On gross pathology, the child has brachycephalic head; small brain with shallow sulci; hypoplasia of frontal sinuses; endocardial cushion defect. Imaging: double bubble (dilated stomach and proximal duodenum) due to duodenal atresia. X-ray is unsignificant (plain); hypoplastic middle and terminal phalanges of fifth digits (Acromicria).

2) Please design a short term nursing management for the patient

Answer 1

Nursing management for the patient:

Nursing Assessment:

The nurse should perform the thorough physical examination of the newborn from head to toe. Collect the mother's genetic history, pregnancy history, and birth history.

Nursing Diagnosis:

• Delayed development related to impaired developmental tasks.
• Impaired reflexes related to cognitive impairment.
• Impaired neuromuscular activity related to the lack of abilities.
• Lack of sucking related to facial structures.
• Risk for infection related to the poor function of the stomach.

Goals:

• The child should show the developmental tasks.
• The newborn should develop neuromotor skills.
• The child should show the relevant reflexes.
• The child should learn adequate sucking.
• Minimize the risk of infection.

Nursing Interventions:

• Educate the parents about the newborn condition and the need for assistance in caring for the child.
• Encourage the child to check the hearing regularly.
• Assist the child in proper sucking and meet the nutritional requirements.
• Provide guidance and support to the family members.
• The child digestive, heart, orthopedic, and other conditions should be closely monitored.
• Multidisciplinary approach team should be included in the care of the newborn.
• Monitor the milestones of gross motor and fine motor skills.

Evaluation:

• The child was able to show improved motor skills.
• The child was able to show normal reflexes.
• The child was able to proper sucking.
• The parents understood the newborn condition.