Nursing care of the child with an alteration in genetics Flashcards
Exam 3
Mendelian or Monogenic Laws of Inheritance:
What are the Principles of inheritance of single-gene disorders are similar to what?
Principles of inheritance of single-gene disorders are the same that govern the inheritance of other traits, such as eye color.
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?
These patterns occur because a single gene is defective and the disorders that result are referred to as monogenic or, sometimes, Mendelian disorders.
Mendelian or Monogenic Laws of Inheritance:
What is the term for if a defect occurs on the autosome?
If the defect occurs on the autosome, the genetic disorder is termed autosomal;
Mendelian or Monogenic Laws of Inheritance:
What is the term for if a defect occurs on the x-chromosome?
if the defect is on the X chromosome, the genetic disorder is termed X-linked.
Mendelian or Monogenic Laws of Inheritance:
An x-linked chromosome can also be classified as what?
The defect also can be classified as dominant or recessive.
Mendelian or Monogenic Laws of Inheritance:
What does monogenic disorders include?
Monogenic disorders include autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive.
Autosomal Dominant Inheritance Pattern:
What does this mean?
50% chance of having a child having a prob (dominant)
Autosomal Recessive Inheritance Pattern:
What does this mean?
Recessive- 25% chance a child expressing a disorder
Goals of the Human Genome Project:
What is its goal to identify?
Identify all of the approximately 20,000 to 25,000 genes in human DNA.
Goals of the Human Genome Project:
What is its goal to determine?
Determine the sequences of the 3 billion chemical base pairs that make up human DNA.
Goals of the Human Genome Project:
What is the goal to do with the information collected?
Store this information in databases to make it accessible for further study.
Goals of the Human Genome Project:
What to improve? (Not a very important slide)
Improve tools for data analysis.
Transfer related technologies to the private sector.
Address the ethical, legal, and social implications of this discovery.
Ethical and Legal Issues Related to Genetic Risk Profiling
Patient privacy and confidentiality related to workplace discrimination.
Access to health care insurance.
Issues of autonomy.
Advantages of Genetic Counseling:
What does it provide?
Provides relevant information to families about specific disorders.
Advantages of Genetic Counseling:
What kind of information does it give?
Personalized information tailored to the individual situation.
Advantages of Genetic Counseling:
What is done with the results of the genetic testing?
Review the results of genetic testing to confirm, diagnose, or rule out genetic abnormalities.
Advantages of Genetic Counseling:
What should be identified?
Identify medical management issues and support families in identifying local resources.
Advantages of Genetic Counseling:
What should be provided to healthcare providers?
Provide resources and education to other healthcare providers in the needs of the family.
Advantages of Genetic Counseling:
What does prenatal testing allow for?
Prenatal testing allows families the opportunity to prepare for special needs of an unborn child and to consider options for current and future pregnancies.
Those who may benefit from genetic counseling: Slide 8
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
Common Disorders Influenced by Genetic Factors
Birth defects.
Chromosomal abnormalities (including sex chromosomal abnormalities).
Neurocutaneous disorders.
Intellectual disability.
Short stature disorders (multiple types).
Connective tissue disorders.
Inborn errors of metabolism.
Slide 10
Autosomal Dominant Genetic Disorders include:
Neurofibromatosis
Huntington disease
Achondroplasia
Polycystic kidney disease
Autosomal Recessive Genetic Disorders include:
Cystic fibrosis
Phenylketonuria
Tay–Sachs
Sickle cell disease
X-Linked Recessive Genetic Disorders include:
Hemophilia
Color blindness (red/green [most common], blue/green)
Duchenne muscular dystrophy
Multifactorial Genetic Disorders include:
Cleft lip and cleft palate.
Spina bifida.
Pyloric stenosis.
Clubfoot.
Congenital hip dysplasia.
Cardiac defects.
Other nontraditional inheritance patterns (mitochondrial disease, genomic imprinting).
Physical Characteristics of Turner Syndrome
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.
Behavioral Problems Associated With Fragile X Syndrome can include:
Attention deficits.
Hand flapping and biting.
Hyperactivity.
Shyness and social isolation.
Low self-esteem.
Gaze aversion.
Significant Findings in Medical History of a Child With a Genetic Disorder:
How is maternal and paternal age?
Maternal age older than 35 years or paternal age older than 50.
Significant Findings in Medical History of a Child With a Genetic Disorder:
What may repeatedly occur that can lead to this?
Repeated premature births, breech delivery.
Significant Findings in Medical History of a Child With a Genetic Disorder:
Exposure to what can lead to genetic disorders?
Exposure to medications and known teratogens.
Significant Findings in Medical History of a Child With a Genetic Disorder:
What other abnormalities found can lead to genetic disorders?
Congenital hip dysplasia.
Abnormalities found on ultrasound or in prenatal blood screening tests.
Amniotic fluid abnormalities.
Multiple births.
Decreased fetal movement.
Inborn Errors of Metabolism and Associated Odor include:
Phenylketonuria
Maple syrup urine disease
Tyrosinemia
Trimethylaminuria
Inborn Errors of Metabolism and Associated Odor include: Phenylketonuria
Mousy or musty
Inborn Errors of Metabolism and Associated Odor include: Maple syrup urine disease
Maple syrup, burnt sugar, or curry
Inborn Errors of Metabolism and Associated Odor include:
Tyrosinemia
Cabbage-like, rancid butter
Inborn Errors of Metabolism and Associated Odor include: Trimethylaminuria
Rotting fish
Complications of Neurofibromatosis
Headaches
Hydrocephalus
Scoliosis
Cardiac defects, hypertension, seizures
Vision and hearing loss
Neurocognitive deficits
Higher risk for neoplasms
Monosomies versus Trisomies:
Monosomies:
Only one copy of a particular chromosome instead of the usual pair.
Monosomies versus Trisomies:
Monosomies: What happens to fetuses with this condition?
All fetuses spontaneously abort in early pregnancy;
survival occurs only in mosaic forms of these disorders.
Monosomies versus Trisomies:
Trisomies:
Three of a particular chromosome instead of the usual two.
Monosomies versus Trisomies:
Trisomies: What are the most common trisomies?
Most common trisomies include trisomy 21 (Down syndrome), trisomy 18, and trisomy 13.
Trisomy 21 (Down Syndrome): Cause?
Trisomy 21 (Down Syndrome)
Presence of all or part of an extra 21st chromosome.
Trisomy 21 (Down Syndrome):
Characteristics: How is intellectual abilities?
Some degree of intellectual disability.
Trisomy 21 (Down Syndrome): How do children develop?
Progress through same developmental stages as typical children.
They do so on their own timetable. (ex: walk at 24 months versus 12 months)
Trisomy 21 (Down Syndrome):
What is a common characteristic?
Characteristic facial features.
Trisomy 21 (Down Syndrome): What other issues are associated with it?
Other health problems (e.g., cardiac defects, visual and hearing impairment, intestinal malformations, and an increased susceptibility to infections).
Slide 22
Health Guidelines for Children With Down Syndrome (Heart, eyes, thyroid, care, in general)
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.
Health Guidelines for Children With Down Syndrome: What should you monitor for?
Monitor for signs and symptoms of respiratory infections, such as pneumonia and otitis media.
Health Guidelines for Children With Down Syndrome: What kind of vaccines should be discussed?
Discuss with your physician the use of pneumococcal, respiratory syncytial virus, and influenza vaccines.
Health Guidelines for Children With Down Syndrome: When should therapies begin/
Begin early interventions, therapy, and education as soon as possible.
Health Guidelines for Children With Down Syndrome: Teeth care?
Make sure your child brushes his or her teeth regularly.
He or she should visit the dentist every 6 months.
Health Guidelines for Children With Down Syndrome: When should a child get a cervical radiograph? Why?
Make sure the child gets a cervical radiograph between 3 and 5 years of age to screen for atlantoaxial instability.
Health Guidelines for Children With Down Syndrome: What should be reported?
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.
Health Guidelines for Children With Down Syndrome: What should be utilized during procedures?
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.
Guiding Principles for Child Education
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.
Guiding Principles for Child Education (cont.)
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).
