genetics

Nursing 346

Objectives
Describe various inheritance patterns
Discuss ethical and legal issues surrounding genetic testing
Discuss the role of the nurse in the area of genetics and genetic
counseling
Discuss the role and responsibilities of the nurse with caring for the
child and family of a child diagnosed with a genetic disorder
Describe various genetic disorders occurring in childhood.
Develop an individualized care plan for a child with a genetic disorder

Genetics
Goals of Human Genome Project
Value of the Human Genome Project.
Ethics issues?

Selected inheritance patterns

Autosomal Dominant
Autosomal Recessive

Inheritance patterns continued

X linked dominant

X linked recessive

multifactorial

Trisomy 21 (AKA Down Syndrome)

Pathophysiology
Expected assessment
Characteristics
Physical
Cognitive

Associated conditions

Plan of Care
Individualized
Health guidelines
Common issues associated with Down Syndrome

Characteristics

Rounded skull
Upward, outward, slanting of eyes
Small nose with depressed bridge
Short neck
Small, low set ears
High arched palate and protruding tongue
Protruding abdomen
Transverse palmer crease in hands (Simian Line)
Wide space/plantar crease between big and 2nd toe
Lax joints, hypotonic muscles
short

Other Associated Problems

CHD
GI Malformations
Skeletal Defects
Sensory
Respiratory
Growth Delay
Hypothyroidism

Nursing management
Collaborative Management
Assessment
Pre
Post
Ongoing

Interventions
Growth and development
Prevent complications
Nutrition
Support and education