Chapter 22: Fragile X Syndrome (Children)

Question 1

Fragile X Syndrome

Answer 1

• most common cause of developmental and intellectual disabilities in children
• genetic disorder in which the protein necessary for normal brain development is not manufactured

Question 2

Signs + Symptoms

Answer 2

• physical features: large head; elongated face; prominent ears, chin, and forehead
• developmental delays: not reaching milestones in line with children in the same age group
• learning disabilities: difficulty learning new skills, poor intellectual development
• social/behavioral disabilities: poor communication, self-abuse, no eye contact, difficulty paying attention

Question 3

Diagnosis

Answer 3

• DNA testing to find changes in the fragile X mental retardation (FMR1) gene
• DNA testing not usually done unless there is a known family history of the disorder or physical symptoms present

Question 4

Nursing Care

Answer 4

• no know cure for FXS
• nurse can help access and use early intervention services
• help families with information about growth and development and anticipatory guidance to raise the child according to his/her developmental level

Question 5

Education/ Discharge

Answer 5

• provide the family with information r/t FXS and the potential sequelae
• provide medication education; usually for behavioral symptoms