2022/2023!!! NURSING 225 Genetic Disorders Answered Questions with Rationales Final Exam Attained Grade A+

Genetic Disorders • The nurse on the postpartum unit is educating the parents of a newborn diagnosed with an genetic disease. What statement by the parent would indicate to the nurse that family is receptive to additional teaching? "Once we get our baby home and settled, everything will be just fine. We aren't concerned." "I feel like we have learned so much today already and it is a lot to learn at one time." "I think we would understand better if you just wrote down the information and sent it home with us." "I am so glad we have this time of quiet to learn what we need to learn before we go home." Answer: "I am so glad we have this time of quiet to learn what we need to learn before we go home." Rationale: • The nurse should assure the family is willing to learn for teaching to be effective, as indicated by the parent noting that this is a quiet time to learn what is needed. • The other parental statements indicate the session is too long or the parent is not ready to accept the diagnosis. • The nurse suspects a newborn of having an inborn error of metabolism. What action would the nurse prepare for next? Planning to obtain blood samples from both the parents Stopping feedings until confirmation of the diagnosis A referral to a surgeon for surgical repair Obtaining consents for a cardiac echocardiogram and hearing tests Answer: Rationale: • When an inborn error of metabolism is suspected, feedings are typically stopped until the diagnosis is confirmed. • The other responses would not be appropriate for a child with a suspected inborn error of metabolism. • The nurse is developing a plan of care for a child diagnosed with Fragile X syndrome. Which intervention(s) is appropriate for an individual with this condition? Select all that apply. Encourage the family to verbalize concerns about the diagnosis. Provide the caregivers with resources on support groups. Arrange for a dietitian to speak to the client and family. Refer the client for developmental therapies. Educate the family on growth hormone and estrogen therapy. Answer: Encourage the family to verbalize concerns about the diagnosis. Provide the caregivers with resources on support groups. Refer the client for developmental therapies. Rationale: • Fragile X syndrome is the most common cause of cognitive impairment, and clients need help progressing through developmental stages. • Caregivers can experience significant stress when a child has a genetic disorder and need to speak their concerns and be informed of support groups. • There are not any dietary concerns for clients with Fragile X syndrome. • Growth hormone and estrogen therapy would be indicated for clients with Turner syndrome. • Which laboratory or diagnostic test would the nurse anticipate to rule out complications related to Down syndrome? Echocardiogram Chromosomal analysis Chorionic villi sampling Ultrasound-guided amniocentesis Answer: Echocardiogram Rationale: • Many Down syndrome children have cardiac complications. • Chorionic villi sampling, chromosomal analysis, and amniocentesis are diagnostic tools used to diagnose genetic disorders, not complications associated with a genetic disorder. • A 6-year-old boy who has intellectual disability secondary to fragile-X syndrome has been admitted to hospital with a mitral valve prolapse. A health care worker who is providing care for the family should have which statement as part of her knowledge base around the disease? The boy will pass the gene to all his future daughters who will become carriers. Genes of the boy’s Y chromosome can be affected in addition to the X chromosome. The common pattern of inheritance is an affected mother who carries one normal and one mu