Nursing care of the child with an alteration in genetics

Question 1

Mendelian or Monogenic Laws of Inheritance:

What are the Principles of inheritance of single-gene disorders are similar to what?

Answer 1

Principles of inheritance of single-gene disorders are the same that govern the inheritance of other traits, such as eye color.

Question 2

Mendelian or Monogenic Laws of Inheritance:

Principles of inheritance of single-gene disorders are the same that govern the inheritance of other traits, such as eye color.

Why do these patterns occur? What are they referred to as?

Answer 2

These patterns occur because a single gene is defective and the disorders that result are referred to as monogenic or, sometimes, Mendelian disorders.

Question 3

Mendelian or Monogenic Laws of Inheritance:

What is the term for if a defect occurs on the autosome?

Answer 3

If the defect occurs on the autosome, the genetic disorder is termed autosomal;

Question 4

Mendelian or Monogenic Laws of Inheritance:

What is the term for if a defect occurs on the x-chromosome?

Answer 4

if the defect is on the X chromosome, the genetic disorder is termed X-linked.

Question 5

Mendelian or Monogenic Laws of Inheritance:

An x-linked chromosome can also be classified as what?

Answer 5

The defect also can be classified as dominant or recessive.

Question 6

Mendelian or Monogenic Laws of Inheritance:

What does monogenic disorders include?

Answer 6

Monogenic disorders include autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive.

Question 7

Autosomal Dominant Inheritance Pattern:

What does this mean?

Answer 7

50% chance of having a child having a prob (dominant)

Question 8

Autosomal Recessive Inheritance Pattern:

What does this mean?

Answer 8

Recessive- 25% chance a child expressing a disorder

Question 9

Goals of the Human Genome Project:

What is its goal to identify?

Answer 9

Identify all of the approximately 20,000 to 25,000 genes in human DNA.

Question 10

Goals of the Human Genome Project:

What is its goal to determine?

Answer 10

Determine the sequences of the 3 billion chemical base pairs that make up human DNA.

Question 11

Goals of the Human Genome Project:

What is the goal to do with the information collected?

Answer 11

Store this information in databases to make it accessible for further study.

Question 12

Goals of the Human Genome Project:

What to improve? (Not a very important slide)

Answer 12

Improve tools for data analysis.

Transfer related technologies to the private sector.

Address the ethical, legal, and social implications of this discovery.

Question 13

Ethical and Legal Issues Related to Genetic Risk Profiling

Answer 13

Patient privacy and confidentiality related to workplace discrimination.

Access to health care insurance.

Issues of autonomy.

Question 14

Advantages of Genetic Counseling:

What does it provide?

Answer 14

Provides relevant information to families about specific disorders.

Question 15

Advantages of Genetic Counseling:

What kind of information does it give?

Answer 15

Personalized information tailored to the individual situation.

Question 16

Advantages of Genetic Counseling:

What is done with the results of the genetic testing?

Answer 16

Review the results of genetic testing to confirm, diagnose, or rule out genetic abnormalities.

Question 17

Advantages of Genetic Counseling:

What should be identified?

Answer 17

Identify medical management issues and support families in identifying local resources.

Question 18

Advantages of Genetic Counseling:

What should be provided to healthcare providers?

Answer 18

Provide resources and education to other healthcare providers in the needs of the family.

Question 19

Advantages of Genetic Counseling:

What does prenatal testing allow for?

Answer 19

Prenatal testing allows families the opportunity to prepare for special needs of an unborn child and to consider options for current and future pregnancies.

Question 20

Those who may benefit from genetic counseling: Slide 8

Answer 20

Maternal age 35 or older when baby born

Paternal age 50 or older

Two or more pregnancy losses

Teratogen exposure or risk

Child with abnormalities of growth

Still born with congenital anomalies

Consanguinity or incest

Question 21

Common Disorders Influenced by Genetic Factors

Answer 21

Birth defects.

Chromosomal abnormalities (including sex chromosomal abnormalities).

Neurocutaneous disorders.

Intellectual disability.

Short stature disorders (multiple types).

Connective tissue disorders.

Inborn errors of metabolism.

Question 22

Slide 10

Question 23

Autosomal Dominant Genetic Disorders include:

Answer 23

Neurofibromatosis
Huntington disease
Achondroplasia
Polycystic kidney disease

Question 24

Autosomal Recessive Genetic Disorders include:

Answer 24

Cystic fibrosis

Phenylketonuria

Tay–Sachs

Sickle cell disease

Question 25

X-Linked Recessive Genetic Disorders include:

Answer 25

Hemophilia

Color blindness (red/green [most common], blue/green)

Duchenne muscular dystrophy

Question 26

Multifactorial Genetic Disorders include:

Answer 26

Cleft lip and cleft palate.

Spina bifida.

Pyloric stenosis.

Clubfoot.

Congenital hip dysplasia.

Cardiac defects.

Other nontraditional inheritance patterns (mitochondrial disease, genomic imprinting).

Question 27

Physical Characteristics of Turner Syndrome

Answer 27

Webbed neck.

Low posterior hairline.

Wide-spaced nipples.

Edema of the hands and feet.

Amenorrhea.

No development of secondary sex characteristics.

Sterility.

Perceptual and social skill difficulties.

Question 28

Behavioral Problems Associated With Fragile X Syndrome can include:

Answer 28

Attention deficits.

Hand flapping and biting.

Hyperactivity.

Shyness and social isolation.

Low self-esteem.

Gaze aversion.

Question 29

Significant Findings in Medical History of a Child With a Genetic Disorder:

How is maternal and paternal age?

Answer 29

Maternal age older than 35 years or paternal age older than 50.

Question 30

Significant Findings in Medical History of a Child With a Genetic Disorder:

What may repeatedly occur that can lead to this?

Answer 30

Repeated premature births, breech delivery.

Question 31

Significant Findings in Medical History of a Child With a Genetic Disorder:

Exposure to what can lead to genetic disorders?

Answer 31

Exposure to medications and known teratogens.

Question 32

Significant Findings in Medical History of a Child With a Genetic Disorder:

What other abnormalities found can lead to genetic disorders?

Answer 32

Congenital hip dysplasia.

Abnormalities found on ultrasound or in prenatal blood screening tests.

Amniotic fluid abnormalities.

Multiple births.

Decreased fetal movement.

Question 33

Inborn Errors of Metabolism and Associated Odor include:

Answer 33

Phenylketonuria

Maple syrup urine disease

Tyrosinemia

Trimethylaminuria

Question 34

Inborn Errors of Metabolism and Associated Odor include: Phenylketonuria

Answer 34

Mousy or musty

Question 35

Inborn Errors of Metabolism and Associated Odor include: Maple syrup urine disease

Answer 35

Maple syrup, burnt sugar, or curry

Question 36

Inborn Errors of Metabolism and Associated Odor include:
Tyrosinemia

Answer 36

Cabbage-like, rancid butter

Question 37

Inborn Errors of Metabolism and Associated Odor include: Trimethylaminuria

Answer 37

Rotting fish

Question 38

Complications of Neurofibromatosis

Answer 38

Headaches

Hydrocephalus

Scoliosis

Cardiac defects, hypertension, seizures

Vision and hearing loss

Neurocognitive deficits

Higher risk for neoplasms

Question 39

Monosomies versus Trisomies:

Monosomies:

Answer 39

Only one copy of a particular chromosome instead of the usual pair.

Question 40

Monosomies versus Trisomies:

Monosomies: What happens to fetuses with this condition?

Answer 40

All fetuses spontaneously abort in early pregnancy;

survival occurs only in mosaic forms of these disorders.

Question 41

Monosomies versus Trisomies:

Trisomies:

Answer 41

Three of a particular chromosome instead of the usual two.

Question 42

Monosomies versus Trisomies:

Trisomies: What are the most common trisomies?

Answer 42

Most common trisomies include trisomy 21 (Down syndrome), trisomy 18, and trisomy 13.

Question 43

Trisomy 21 (Down Syndrome): Cause?

Answer 43

Trisomy 21 (Down Syndrome)

Presence of all or part of an extra 21st chromosome.

Question 44

Trisomy 21 (Down Syndrome):

Characteristics: How is intellectual abilities?

Answer 44

Some degree of intellectual disability.

Question 45

Trisomy 21 (Down Syndrome): How do children develop?

Answer 45

Progress through same developmental stages as typical children.

They do so on their own timetable. (ex: walk at 24 months versus 12 months)

Question 46

Trisomy 21 (Down Syndrome):

What is a common characteristic?

Answer 46

Characteristic facial features.

Question 47

Trisomy 21 (Down Syndrome): What other issues are associated with it?

Answer 47

Other health problems (e.g., cardiac defects, visual and hearing impairment, intestinal malformations, and an increased susceptibility to infections).

Question 48

Slide 22

Question 49

Health Guidelines for Children With Down Syndrome (Heart, eyes, thyroid, care, in general)

Answer 49

Have your child evaluated by a pediatric cardiologist, including an echocardiogram.

Take your child for routine vision and hearing tests. By 6 months have your child seen by a pediatric ophthalmologist.

Make sure your child gets regular medical care, including recommended immunizations and a thyroid test at 6 and 12 months and then yearly.

Have your child follow a regular diet and exercise routine.

Question 50

Health Guidelines for Children With Down Syndrome: What should you monitor for?

Answer 50

Monitor for signs and symptoms of respiratory infections, such as pneumonia and otitis media.

Question 51

Health Guidelines for Children With Down Syndrome: What kind of vaccines should be discussed?

Answer 51

Discuss with your physician the use of pneumococcal, respiratory syncytial virus, and influenza vaccines.

Question 52

Health Guidelines for Children With Down Syndrome: When should therapies begin/

Answer 52

Begin early interventions, therapy, and education as soon as possible.

Question 53

Health Guidelines for Children With Down Syndrome: Teeth care?

Answer 53

Make sure your child brushes his or her teeth regularly.

He or she should visit the dentist every 6 months.

Question 54

Health Guidelines for Children With Down Syndrome: When should a child get a cervical radiograph? Why?

Answer 54

Make sure the child gets a cervical radiograph between 3 and 5 years of age to screen for atlantoaxial instability.

Question 55

Health Guidelines for Children With Down Syndrome: What should be reported?

Answer 55

Report any changes in gait or use of arms and hands, weakness, changes in bowel or bladder function, complaints of neck pain or stiffness, head tilt, torticollis, or generalized changes in function.

Question 56

Health Guidelines for Children With Down Syndrome: What should be utilized during procedures?

Answer 56

Ensure cervical spine positioning precautions (to avoid over extending or flexing of the neck) are utilized during procedures, such as those involving anesthetic, surgery or radiographs.

Question 57

Guiding Principles for Child Education

Answer 57

Build a trusting relationship.
Stress the authenticity of the parents’ feelings.
Reject your own personal biases.
Recognize that individuals cope in various ways; the family’s behavior may not be what you would expect.
Help the family to identify their own strengths and supports, building on those as able.
Know that the family’s emotions may exhaust and disorganize them.

Question 58

Guiding Principles for Child Education (cont.)

Answer 58

Assist the family members to maintain open communication among themselves.
Provide referrals to local parent groups or other families with a child with a similar disorder.
Allow the family to verbalize their emotions and ask questions.
Always ask the parents how they are doing (Lashley, 2005).