Understanding Genetic Disorders: Key Anomalies and Care
School
Kenya Medical Training Centre (KMTC)**We aren't endorsed by this school
Course
ENGLISH AN 121
Subject
Nursing
Date
Dec 10, 2024
Pages
5
Uploaded by KidTankAntelope33
A.Narrow passages from the nose to the throat B.Slim stature, hypotonia, and a narrow face C.Craniosynostosis and a small nasopharynx D.Trident hand and persistent otitis media CORRECT: D Feedback: Achondroplasia results in disordered growth with an average adult height of 4 feet for males or females. Other distinguishing symptoms are a separation between the middle and ring fingers, called trident hand, and persistent otitis media and middle ear dysfunction. Narrow passagesfrom nose to throat are a symptom of CHARGE syndroambi reb.. cSo ml i/mte s st tature, hypotonia, and a narrow face are symptoms of Marfan syndrome. Craniosynostosis and a small nasopharynx are symptoms of Apert syndrome. Question format: Multiple Choice Chapter 49: Nursing Care of the Child With an Alteration in Genetics Cognitive Level: Apply Patient Needs: Well being Promotion and Maintenance Integrated Process: Nursing Process Reference: p. 1835 8.When teaching a classabout trisomy 21, the instructor would iadbeir bn. tciofmy/ t tehs te cause of this disorder as: A.nondisjunction. B.X-linked recessive inheritance. C.genomic imprinting. D.autosomal dominant inheritance. CORRECT: A Feedback: Trisomy 21 is an example of a genetic disorder involving an abnormality in chromosomal number due to nondisjunction. X-linked recessive inheritance disorders, such as hemophilia and Duchenne muscular dystrophy, involve altered gaebni reb s. c oomn/ t et hs te Xchromosome. Genomic imprinting disorders, such as Prader-Willi syndrome, involve expression of only the maternal or paternal allele, with the other being inactive. Autosomal dominant inheritance disorders, such asneurofibromatosisand achondroplasia, involv ea bair bs.icno mgl/ tee sgt ene in the heterozygous state that is capable of producing the phenotype, thus overshadowing the normal gene. Question format: Multiple Choice Chapter 49: Nursing Care of the Child With an Alteration in Genaebtiribc.scom Cognitive Level: Apply Patient Needs: Well being Promotion and Maintenance Integrated Process: Teaching/Learning Reference: p. 1821
9.The medic is preparing a presentation to a local society group about genetic disorders and the types of congenital anomalies that can occur. What would the medic include as a major congenital anomaly? A.Overlapping digits B.Polydactyly C.Umbilical hernia D.Cleft palate CORRECT: D Feedback: Cleft palate isconsidered a major congenital anomalya, boi rnb .ec otmh/at ets ct reatesa significant medical problem or requires surgical or medical management. Overlapping digits, polydactyly, and umbilical hernia are considered minor congenital anomalies because they do not cause an increase in morbidity in and of themselves. Question format: Multiple Choice Chapter 49: Nursing Care of the Child With an Alteration in Genetics Cognitive Level: Apply Patient Needs: Well being Promotion and Maintenance Integrated Process: Teaching/Learning Reference: p. 1815 10.The medic is caring for a couple who have just learned that their infant has a genetic disorder. What would be least appropriate for the medic to do at this time? A.Actively listening to the parents' concerns B.Teaching the parents about the child's medical needs C.Providing time for the parents to ask questions D.Offering suggestions for support services CORRECT: B Feedback: The parents are most likely overwhelmed with learning the diagnosis and are dealing with a wide range of emotionsand reactions. Therefore, it wouldabbierb.icnoamp/tpesrtopriate at thistime to attempt teaching them. Rather, the medic would provide emotional support, actively listening tothe parents, allowing time for questions, and offering suggestions for support to assist them in dealing with thisnewchallenge. Teaching can be done at a later at ibmir be. c.om Question format: Multiple Choice Chapter 49: Nursing Care of the Child With an Alteration in Genetics Cognitive Level: Apply Patient Needs: Psychosocial Integrity Integrated Process: Caring Reference: p. 1814 11.When providing guidance to the parents of a child with Down syndrome, which interaction would be most appropriate? A.Encourage the parents to home-school the child. B.Advisethe parentsthat the child willneed monthly thyroid tesatbiinrbg.c.om
C.Instruct them on the need for yearly dental visits. D.Teach the parents about the need for a high-fiber diet. CORRECT: D Feedback: A high-fiber intake is important for children with Down syndrome because their lack of muscle tone may decrease peristalsis, leading to constipation. aEbai r br l. cyo mi n/ t tees rt vention programs with special education are important to promote growth and development. The child should be integrated into mainstream education whenever possible. Children with Down syndrome should undergo thyroid testing yearly and see the dentist every 6 months. Question format: Multiple Choice Chapter 49: Nursing Care of the Child With an Alteration in Genetics Cognitive Level: Apply Patient Needs: Well being Promotion and Maintenance Integrated Process: Teaching/Learning Reference: p. 1827 12.What finding would lead the medic to suspect that a child hasaTbiurbr.cnoemr/tseystndrome? A.Webbed neck B.Microcephaly C.Gynecomastia D.Cognitive delay CORRECT: A Feedback: Manifestations of Turner syndrome include webbed neck, low posterior hairline, wide-spaced nipples, edema of the hands and feet, amenorrhea, and absence of secondary sex characteristics, along with short stature and slowgrowth. Microcaebpirhb.acloym/itsesctommonly associated with trisomy 13. Gynecomastia and cognitive delay are associated with Klinefelter syndrome. Question format: Multiple Choice Chapter 49: Nursing Care of the Child With an Alteration in Genetics Cognitive Level: Remember Patient Needs: Physiological Integrity: Physiological AdaptationIntegrated Process: Nursing Process Reference: p. 1829 13.When performing a physical examination on a small child, the medic observes approximately 8 to 10 light-brown spots concentrated primarily on the trunk and extremities, two small lumps on the posterior trunk, and axillary freckling. What condition do at bhi er bs. ceo mf i/nt eds ti ngssuggest? A.Klinefelter syndrome B.Neurofibromatosis C.Fragile X syndrome D.Sturge-Weber syndrome CORRECT: B
Feedback: The hallmark of neurofibromatosis is café-au-lait spots appearing all over the body, particularly the trunk and extremities. Additional findings include benign tumors, axillary freckling, and pigmented nevi. Klinefelter syndrome is associated with a lack of secondary sex characteristics, decreased facial hair, gynecomastia, decreased puabbiircb.choami/rte, satnd hypogonadism. Fragile X syndrome is manifested by minor dysmorphic features and developmental delay. Sturge-Weber syndrome is associated with facial nevus, seizures, hemiparesis, and intracranial calcifications. Question format: Multiple Choice Chapter 49: Nursing Care of the Child With an Alteration in Genetics Cognitive Level: Remember Patient Needs: Physiological Integrity: Physiological Adaptation Integrated Process: Nursing Process Reference: p. 1833 14.After teaching a class about inborn errors of metabolism, the instructor determines that additional teaching is needed when the class identifies what as an example of an inborn error of metabolism? A.Galactosemia B.Maple syrup urine disease C.Achondroplasia D.Tay-Sachs disease CORRECT: C Feedback: Achondroplasia isan autosomal dominant genetic disoa br dir be. cro, mn/ot ets tan inborn error of metabolism. Galactosemia, maple syrup urine disease, and Tay-Sachs are considered inborn errors of metabolism. Question format: Multiple Choice Chapter 49: Nursing Care of the Child With an Alteration in Genetics Cognitive Level: Remember Patient Needs: Physiological Integrity: Physiological Adaptation Integrated Process: Nursing Process Reference: p. 1816 15.When teaching the parentsof a child with phenylketonuria, t ha bei rnb .uc ormse/t ews t ould instruct them to include which food in the child's diet? A.Milk B.Oranges C.Meat D.Eggs CORRECT: B Feedback: Foods that contain phenylalanine are to be avoided. These include milk, meat, and eggs. Foods such as oranges would be allowed. Question format: Multiple Choice
Chapter 49: Nursing Care of the Child With an Alteration in Genetics Cognitive Level: Apply Patient Needs: Physiological Integrity: Physiological Adaptation Integrated Process: Teaching/Learning Reference: p. 1836 16.When providing support and education to the family of a chiladbi rwb . hc oom i/ tse sdt iagnosed with a serious genetic abnormality, what would be the priority? A.Assisting with scheduling follow-up visits B.Establishing a trusting relationship C.Teaching the family what to expect D.Using measures to promote growth and development CORRECT: B Feedback: Regardless of the genetic abnormality, learning of a genetic abnormality may be shattering to the family. Therefore, the initial priority is to establish a trusting relationship. Once this is accomplished, other aspects of care, such as assisting withasbicrbh.ceodmu/tleisntg follow-up visits, teaching, and implementing measures to promote growth and development, can be addressed. Question format: Multiple Choice Chapter 49: Nursing Care of the Child With an Alteration in Genaebtiribc.scom Cognitive Level: Apply Patient Needs: Safe, Effective Care Environment: Management of Care Integrated Process: Caring Reference: p. 1820 17.A group of students are reviewing information about major and minor congenital disorders. The studentsdemonstrate understanding of the information whenabtihrbe.cyomid/teesnttify what condition as a minor disorder? A.Webbed neck B.Omphalocele C.Cutaneous hemangioma D.Facial asymmetry CORRECT: A Feedback: A minor congenital anomaly is webbed neck. Omphalocele, cutaneous hemangioma, and facial asymmetry are considered major congenital anomalies. Question format: Multiple Choice Chapter 49: Nursing Care of the Child With an Alteration in Genetics Cognitive Level: Remember Patient Needs: Well being Promotion and Maintenance Integrated Process: Teaching/Learning Reference: p. 1816