1229 Exam 1 Flashcards
very concentrated high-protein, antibody-rich substance present in the breasts before the formation of milk
colostrum
soft bacterial deposits that adhere to the teeth and cause dental decay and periodontal disease.
plaque
oral infection caused by a fungus or yeast
thrush
Regular use of drugs for other than the accepted medical purposes; use of drugs resulting in physical or psychologic harm to the user and or detrimental effects to society.
drug abuse
Milk that is let down about 20 minutes into the feeding; often called the cream it is denser in calories from bt necessary for optimal growth and contentment between feedings.
Hindmilk
on the average girls gain ____ to _____ inches in height and ____ to ____ lbs during adolescence
2 to 8
15 to 55
the retreat from one’s present pattern of functioning to past levels of behavior
regression
A necessary assertion of self control in the toddler
negativism
The lactogenic hormone secreted by the anterior pituitary gland in response to the infant’s suck and emptying of the breast.
Prolactin
The process of milk prodction
Lactation
the process of giving up one method of feeding for another; usually refers to relinquishing the breast or bottle for a cup
Weaning.
the need to maintain sameness and reliability
ritualism
milk that is initially released with breast feeding; it is bluish white, is composed of part skim milk and part whole milk and provides primarily lactose, protein and water-soluble vitamins.
foremilk
plastic device that can be placed over the nipple and areola to keep clothing off the nipple and put pressure around the base of the nipple to promote protrusion of the nipple.
nipple shell
Breastfeeding position in which the mother holds the baby’s head and shoulders in her hand with the babys back and body tucked under her arm.
Football hold
Breastfeeding position in which the baby’s head is positioned in the crook of the mother’s arm and the mother and baby are “tummy to tummy”
cradle hold
rounded pigmented section of tissue surrounding the nipple
areola
Infection of the breast wit a swollen, tender breast andudde onset fflu-like symptoms ons h
mastitis
Reflex response of the nipple when the infant cries, suckles or rubs against the breast; this response propels milk through the lactiferous sinuses to the nipple pores.
Nipple Erection reflex
Posterior pituitary hormone that triggers the let down reflex
Oxytocin
eating disorder characterized by binge eating and purging followed by self-deprecating thoughts, a depressed mood, and awareness that the eating pattern is abnormal.
bulimia
Absence of menstruation
amenorrhea
boys gain ___ to ___ inches and ____ to ___ lbs in adolescence
4 to 12
15 to 65
dribbling of unswallowed formula from the infant’s mouth immediately after a feeding
spitting up
the average annual weight gain during the preschool years is
2.3kg/ 5lbs
milk collection structure that narrow to form many openings or pores in the nipple. They compress when the infant sucks and the milk is then ejected.
Lactiferous sinuses
Milk-producing cells
Alveoli
Breast structure that connects several alveoli
Ductules
Breast response that occurs around the third to fifth day, when the “milk comes in” and blood supply to the breasts increases. The breasts become tender, swollen, hot and hard, and even shiny and red.
engorgement
nipple type that remains flat and soft and does not protrude even when stimulated
inverted
the destruction of teeth resulting from the process of bathing the teeth in a cariogenic environment for a prolonged period; most often affects the maxillary incisor and molars
nursing cavities
Positioning the baby onto the breast with the mouth open wide and the tongue down. The nipple and some of the areola should be in the by’s mouth
Latch on
paroxysmal abdominal pain manifested by a duration of more than 3 hours and by drawing up of the legs to the abdomen in an infant under the age of 3 months.
colic
health care professional who specializes in Breastfeeding and may be available to assist a new mother with breastfeeding while in the hospital or after discharge.
lactation consult
Herbal agent reported to increase breast milk production.
Galactogogues
process whereby the infant is gradually introduced to drinking from a cup and eating solid food while breastfeeding and bottle feeding is reduced by gradually decreasing the number of feedings.
weaning
Nipple type that becomes hard erect and protrudes upon stimulation, thereby facilitating latch-on
everted
Reflex stimulated when hungry baby’s lower lip is touched; baby opens mouth and begins to suck.
rooting reflex
the common and troublesome disorder of bed-wetting; difficult to define because of the variable ages at which children achieve bladder control.
Eruresis
Structures in the breast that are composed of alveoli, milk ductules, and myoepithelial cells.
Lobes
behaviors associated with drug use that are physiologic and involuntary, not culturally defined
drug tolerance
newborns behaviors that indicate hunger and to cat such as hand to mouth movements, rooting, and mouth and tongue movements.
feeding cues.
Infant ceases to respond to stimulation when their feeding needs are not met and withdraw into sleep even after several attempts to awaken them for feeding.
shut down
behavior associated with drug use that is voluntary and culturally defined
addiction
reflex triggered by the contraction of myoepithelial cells. Colostrum, and later milk , is ejected toward the nipple.
letdown or milk ejection.
difficulty in knowing how to latch on to the breast after having taken a bottle or artificial nipple
nipple confusion
undigested food from the stomach, usually accompanied by burping
ritualism
cells surrounding alveoli; these cells contract in response to oxytocin, resulting in the milk ejection reflex or let-down.
Myoephithelial cell
eating disorder characterized by a refusal to maintain a minimally normal body weight severe weight loss in the absence of obvious physical causes.
anorexia
Breast structure that connects a duct to the laciferous sinus
Lactiferous Duct
short fenulum, which interferes with extrusion and effective sucking.
tongue tie
Positive and negative reinforcement is the basis of
behavior modification theory—behavior that is rewarded will be repeated; behavior that is not rewarded will be extinguished.
Commitment
Follow through with the details of the discipline, such as timing of minutes; avoid distractions that may interfere with the plan, such as telephone calls.
The basic goals of parenting are to promote
children’s physical survival and health, to foster the skills and abilities necessary to be a self-sustaining adult, and to foster behavioral capabilities for optimizing cultural values and beliefs.
role continuity
Other cultures value the same behaviors, such as courage and aggression, in both children and adults.
Other essential skills that parents need to feel comfortable in the parenting role include
basic understanding of childhood growth and development, bathing, feeding, use of play, and interpersonal communication skills.
Key Points
•Because there is no agreement about the definition of family, a family is what an individual considers it to be.
•Three theories that have significant relevance and application to pediatric nursing are family systems theory, family stress theory, and developmental theory.
•Although the traditional family structure was nuclear or extended, in recent years other forms, such as the single-parent family, have emerged.
•Family size and position within the family structure have a strong impact on a child’s development.
•Interpersonal skills and a basic understanding of childhood growth and development are two essential areas of focus for parents.
•Parental control tends to be predominantly one of three types: authoritarian, permissive, or authoritative.
•Three areas of special concern to adoptive families include the initial attachment process, the task of telling the children they are adopted, and identity formation during adolescence.
•Marital factors within the home significantly influence a child’s development. The impact of divorce on a child depends on the child’s age, the outcome, and the quality of the parent-child relationship and parental care following the divorce.
Single parenting and stepparenting create adjustment difficulties and add stress to the already demanding parental role. Significant numbers of children will live in a single-parent or reconstituted family at some point.
Limit setting and discipline are positive, necessary components of childrearing and serve several useful functions as they help children:
- Test their limits of control
- Achieve in areas appropriate for mastery at their level
- Channel undesirable feelings into constructive activity
- Protect themselves from danger
- Learn socially acceptable behavior
Family
There is no universal definition of family; a family is what an individual considers it to be.
generational continuity
parents rear their own children in much the same way as they themselves were reared.
Unfortunately, reasoning is often combined with scolding
which sometimes takes the form of shame or criticism.
The reasons for misbehavior may include
attention, power, defiance, and a display of inadequacy
Children may also misbehave because the rules are not clear or consistently applied.
Authoritarian or dictatorial parents try to
control their children’s behavior and attitudes through unquestioned mandates. They establish rules and regulations or standards of conduct that they expect to be followed rigidly and unquestioningly. They value and reward absolute obedience, mute acceptance of their word, and unfailing respect for the family’s principles and beliefs. They forcefully punish any behavior that is contrary to parental standards.
Parental authority is exercised with little explanation and little involvement of the child in decision making. The message is: “Do it because I say so.”
Planning
Plan disciplinary strategies in advance and prepare child if feasible (e.g., explain use of time-out); for unexpected misbehavior, try to discipline when you are calm.
pioneering
which one sibling initiates a process, thereby giving the others permission to follow. These patterns include breaking explicit family rules, taking new pathways (such as leaving the family), or adopting different moral or political codes and lifestyles.
strategy of consequences ( allowing children to see result of their misbehavior). It includes three type they are:
Natural
Logical
Unrelated
The most common type of relationships are
consanguineous (blood relationships), affinal (marital relationships), and family of origin (family unit a person is born into).
difference in behavior between identical and fraternal twins
There is near-unison in the actions of identical twins (although they alternate in assuming the leadership), but fraternal twins, even of the same sex, do not display this quality. Sibling rivalry can be pronounced in fraternal twins, especially in different-sex twins.
Twins are of two distinct types:
identical, or monozygotic (MZ), and fraternal, or dizygotic
Response burst is a phenomenon that occurs
when the undesired behavior increases after ignoring is initiated because the child is testing the parents to see if they are serious about the plan.
Permissive or laissez-faire
employ lax, inconsistent discipline; do not set sensible limits; and do not prevent the children from upsetting the home routine. These parents rarely punish the children. Consequently, the children control the parents and are often disobedient, disrespectful, and generally defiant of authority.
role discontinuity
role behavior expected of children conflicts with desirable adult behavior. For example, in the United States, children are expected to be submissive in childhood but dominant as adults
Termination
After the discipline is administered, consider child as having a “clean slate,” and avoid bringing up the incident or lecturing.
Logical
Those that are directly related to the rule, such as not being allowed to play with another toy until the used ones are put away
Unity
Make certain that all caregivers agree on the plan and are familiar with the details to prevent confusion and alliances between child and one parent.
With Authoritative or democratic parents
control is firm and consistent but tempered with encouragement, understanding, and security.
Natural
Those that occur without any intervention, such as being late and missing dinner
Timing
Initiate discipline as soon as child misbehaves; if delays are necessary, such as to avoid embarrassment, verbally disapprove of the behavior and state that disciplinary action will be implemented.
Authoritative or democratic parents
combine practices from both Authoritarian and Permissive or laissez-faire.
Behavior orientation
Always disapprove of the behavior, not the child, with such statements as “That was a wrong thing to do. I am unhappy when I see behavior like that.”
Ignoring bad behavior. Ignoring to be effective, parents should:
- understand the process
- record the undesired behavior before using ignoring to determine whether a problem exists and to compare results after ignoring is begun
- determine whether parental attention acts as a reinforcer
- be aware of “response burst.”
household
newer concepts of family, such as communal families, single-parent families, and homosexual families.
Consistency
Implement disciplinary action exactly as agreed on and for each infraction.
Types of Discipline.
Reasoning
involves explaining why an act is wrong and is usually appropriate for older children,
Authoritative or democratic parents
direct their children’s behavior and attitudes by emphasizing the reason for rules and negatively reinforcing deviations. They respect each child’s individuality and allow him or her to voice objections to family standards or regulations.
foster care is defined as
placement in an approved living situation away from the family of origin.
Parents’ realistic standards and reasonable expectations produce children with
high self-esteem who are self-reliant, assertive, inquisitive, content, and highly interactive with other children.
Careful training often results in rigidly conforming behavior in the children,
who tend to be sensitive, shy, self-conscious, retiring, and submissive. They are more apt to be courteous, loyal, honest, and dependable but docile.
The second resource for dealing with stress is the use of
coping strategies that strengthen the family’s organization and functioning.
Flexibility
Choose disciplinary strategies that are appropriate to child’s age and temperament and the severity of the misbehavior.
Successful adaptation to the stress of transition to parenthood involves at least two types of family resources
Internal resources such as adaptability and integration are the first type.
Adaptation is reflected in learning to be patient, becoming better organized, and becoming more flexible.
Integration refers to the couple’s attempt to continue some activities they engaged in before they became parents.
Privacy
Administer discipline in private, especially with older children, who may feel ashamed in front of others.
Permissive or laissez-faire parents
exert little or no control over their children’s actions. They avoid imposing their own standards of conduct and allow their children to regulate their own activity as much as possible. These parents consider themselves to be resources for the children, not role models.
One responsibility of the family is
to develop culturally appropriate role behavior in children.
These include the use of
social support systems and community resources and the adoption of a future orientation.
Unrelated
Those that are imposed deliberately, such as no playing until homework is completed or the use of time-out
discipline means
to teach or refers to a set of rules governing conduct.
Parenting styles can be described as
authoritarian, permissive, or authoritative.
Limit setting refers to
establishing the rules or guidelines for behavior.
Role learning
Roles are learned through the socialization process. During all stages of development children learn and practice, through interaction with others and in their play, a set of social roles and the characteristics of other roles.
Tertiary prevention
prevent disability through restoration of optimal functioning.
Ex: early treatment and management of diabetes.
nurses must exhibit a high degree of professionalism. Cultural sensitivity, compassion, and a critical awareness of family dynamics and social stressors that will affect health-related decision making are
critical components in developing an effective plan of care
Measures of community health include
access to care, level of provider services available, and other social and economic factors.
This consent-for-care serves two major purposes:
agreement for care and authorization to release medical information.
asset mapping
provides an overview of community attributes and strengths that may facilitate long-term change and improved quality of life for community residents.
Primary prevention
health promotion and disease prevention activities to decrease the occurrence of illness and improve health and quality of life.
Ex: immunizations, injury prevention (wear seat belts and use safety equipment), improve air quality.
The Association of Women’s Health, Obstetric and Neonatal Nurses (AWHONN, 2003) defined home care as the
provision of technical, psychologic, and other therapeutic support in the patient’s home rather than in an institution.
In the first visit to the home, the home care nurse completes extensive documentation with the patient. Before performing any services, the nurse must
obtain written agreement and consent for the home health care services.
capacity
looks at a community’s ability to address social and health problems or to develop knowledge, systems, and resources that contribute to a community health status.
Secondary prevention
early detection of a disease and prompt treatment to either cure or slow its progress.
ex: community blood pressure and cholesterol screenings that ID people that are at risk for heart attack, and stroke
The primary goals of the assessment phase are to
develop a trusting relationship and collect data by various methods to obtain a comprehensive patient profile
Large health care systems are developing clinically integrated health care delivery networks whose goals are
(1) improved coordination of care and care outcomes
(2) better communication among health care providers;
(3) increased patient, payer, and provider satisfaction; and
(4) reduced cost.
Key Points
•A community is defined as a locality-based entity composed of systems of societal institutions, informal groups, and aggregates that are interdependent and whose function is to meet a wide variety of collective needs.
•Of necessity, most changes aimed at improving community health involve partnerships among community residents and health workers.
•Methods of collecting data useful to the nurse working in the community include walking surveys, analysis of existing data, informant interviews, and participant observation.
•Vulnerable populations are groups who are at higher risk for developing physical, mental, or social health problems.
- Social and economic factors affect the scope of perinatal nursing practice.
- Perinatal home care is a unique nursing practice that incorporates knowledge from community health nursing, acute care nursing, family therapy, health promotion, and patient education.
- Perinatal home care can be provided for women and infants throughout the perinatal period, beginning before conception and ending in the postpartum period.
- Perinatal home care nurses should incorporate personal safety and infection control practices in the nursing plan of care.
- Telephonic nurse advice lines, telephonic nursing assessments, and warm lines are low-cost health care services that facilitate continuous patient education, support, and health care decision making, even though health care is delivered in multiple sites.
All patients have the right to participate actively in their plan of care.
These patient rights and responsibilities should begin the discussion about the nurse and patient roles during this initial visit.
Community assessment
identify unique characteristics and special needs of the community and plan and evaluate the appropriate health care services for the whole community.
The most critical community indicators of perinatal health relate to
access to care; maternal mortality; infant mortality; LBW; first trimester prenatal care; and rates for mammography, Papanicolaou tests, and other similar screening tests
Acculturation
changes that occur when people from different cultures come in contact with one another. Retain some of their own culture while adopting cultural practices of the dominant society.
Family roles
involve the expectations and behaviors associated with a member’s position in the family (e.g., mother, father, grandparent).
Families culture influences the amount of participation the family members will have concerning the prenatal care and birth of the child. Some cultures the men have no involvement with birth or prenatal care, thats women’s work.
Family System Theory when applied to familys
allows the nurse to view “the family as a unit and thus focus on observing the interaction among family members rather than studying family members individually”.
Family participation
support participation in the care and decision making at the level of their choice.
Calgary Family Assessment Model (CFAM)
a model that uses system theory as well as other theories.
Anne and Duane are married and live with their daughter Susan, and Duane’s mother Ruth.
Extended family
Identify key factors influencing family health.
Family socioeconomics, response to stress, and culture
Gloria and Andy are a married couple living with their new baby girl, Annie.
Nuclear family
Collaboration in
development, implementation, and evaluation of policy and programs, facility design, professional education and delivery of care by all involved.
Cultural Relativism
learning and applying another person’s culture to activities within that culture.
Culture determines a person’s viewpoint.
Affirms the uniqueness and value of every culture.
Communication
- understanding the individual’s language, including subtle variations in meaning and distinctive dialects.
- appreciation of individual differences in interpersonal style.
- accurate interpretation of the volume of speech as well as the meaning of touch and gesture.
Culture is not static
it is an ongoing process that influences people throughout their entire lives, from birth to death.
Ms. P., an immigrant from Vietnam. has lived in the United States for 1 year. She tells you that while she enjoys the comfort of wearing blue jeans and sneakers for casual occasions, like shopping, she still wears traditional or “conservative” clothing for family gatherings.
Acculturation
Time orientation
Time orientation is a fundamental way in which culture affects health behaviors.
People who focus on the past try to maintain traditions keep things status quo, don’t worry about the future. people who focus on present, live in the now, concerned only with what is happening today. People who focus on the future are concerned with what is going to happen.
Despite the differences in time orientation, each family may be equally concerned for the well-being of its newborn.
A family with open boundaries:
a. uses available support systems to meet its needs.
b. is more prone to crisis, related to increase exposures to stressors.
c. discourages family members from setting up channels.
d. strives to maintain family stability by avoiding outside influences.
A., choices b, c, and d reflect the characteristics of families with closed boundaries; they are more prone to crises because they have only a narrow network to help them in times of stress.
The S. Family consist of Jim; his second wife, Jane; and Jim’s two daughters by a pervious marriage.
Reconstituted (blended) family
Personal space
Cultural traditions define the appropriate personal space for various social interactions.
Actions such as touching, placing the woman in proximity to others, taking away personal possessions, and making decisions for the woman can decrease personal security and heighten anxiety.
respecting the need for distance allows the woman to maintain control over personal space and support personal autonomy, thereby increasing her sense of security.
Part 2.
Placing student/nurse in an international clinic allows them to see things through the eyes of a patient. Allowing the student/nurse to experience what it is like to be the minority, not understanding the language, eating unfamiliar foods, not having a ready supply of clean drinking water, primitive bathroom facilities, and shortage of equipment and supplies.
A Cambodian family immigrated to the US and has been living in Denver for over 5 years. The parents express concern about their children, ages 10,13, and 16, stating: “The children act so differently now. They are less respectful to us, want to eat only American food, and go to rock concerts. It’s hard to believe they are our children.”
Assimilation
Treating the patient and family with respect and dignity
listen to and honor perspectives and choices of the patient and family.
Discuss why the nurse should take each of the following “products of culture” into consideration when providing care within a cultural context, communication, personal space, time orientation, family roles.
???????
Communication
Communication is not merely the exchange of words. Instead it involves (1) understanding the individual’s language, including subtle variations in meaning and distinctive dialects; (2) appreciation of individual differences in interpersonal style; and (3) accurate interpretation of the volume of speech, as well as the meanings of touch and gestures.
For example, members of some cultural groups tend to speak more loudly, with great emotion, and with vigorous and animated gestures when they are excited; this is true whether their excitement is related to positive or negative events or emotions.
The Amish represent an important ethnic community in Lancaster, Pennsylvania.
Subculture
The nurse is preparing a healthy diet plan for Mrs. O. in doing so, she takes the time to include the Polish foods that Mrs. O. favors.
Cultural relativism
Explain family functions that contribute to the well-being of its members and society.
The family is a social network that acts as an important support system for its members.
CFAM is comprised of three major categories:
structural, developmental and functional.
Assimilation
occurs when a cultural group loses its identity and becomes part of the dominant culture.
Carl and Allan are a gay couple living with Carl’s daughter, Sally, whom they are raising together.
Homosexual family
Explain family dynamics and how family dynamics contribute to accomplishing family functions.
Through family dynamics (interactions and communication), family members assume appropriate social roles
Negotiation is essential to maintain family equilibrium.
Ideally the family uses its resources to provide a safe, intimate environment for the biopsychosocial development of the family members
Cultural values and rituals are passed from one generation to the next through the family.
The criteria used in making decisions are based on family values and attitudes about the appropriateness of the behavior and the moral, social, political, and economic events of society. The power to make critical decisions is given to a family member through tradition or negotiation.
The core concepts of patient and family centered care are:
dignity and respect
information sharing
participation
collaboration
Explain the meaning of a CRASH course in cultural competency. 2. Discuss how an international clinical placement applies the principles of CRASH in helping students/nurses develop cultural competency.
Part 1. CRASH Culture show Respect Asses/Affirm differences show Sensitivity and self-awareness do it all with Humility
Ethnocentrism
is a belief in the rightness of one’s culture way of doing things. our way is the only and best way of doing things.
share information in ways that are
positive, useful, timely, complete and accurate.
When using interpretive services
- Respect the woman’s wishes.
- involve her in the decision about who will be the most appropriate person to interpret under the circumstances.
- Provide as much privacy as possible.
- Use culturally appropriate learning aids.
Mrs. M., a Mexican-American who just gave birth, tells the nurse not to include certain foods on her meal tray because her mother told her to avoid those foods while she was breast feeding. The nurse tells her that she doesn’t have to avoid any foods and should eat whatever she desires.
Ethnoncentrism.
The nurse should honor the patients wishes, but could explain that there isn’t and adverse affect on her milk if she eats the food she chooses.
In the US acculturation is thought to take place
in three generations.
Sarah and Joe have been divorced for 3 years. They share custody of their four children.
Binuclear family
Miss. M lives with her 4-year old adopted Korean daughter, Kim.
Single-parent family
Describe the main characteristics of contemporary family forms.
the family forms a social network that acts as a potent support system for its members.
relationships with providers are all influenced by culturally related health beliefs and values.
The current emphasis in working with families is on wellness and empowerment for families to achieve control over their lives.
________________________ inability to digest milk sugar (lactose) because of the absence of the lactase enzyme in the small intestine.
Lactose intolerance
A discomfort most commonly experienced in the first trimester of pregnancy; it usually causes only mild to moderate nutritional problems but may be a source of substantial discomfort.
Morning Sickness
_________________________ Nutrient, the adequate intake of which is important for decreasing risk for _______________
or failures in the closure of the neural tube. An intake of ______________ daily is recommended for all women capable of becoming pregnant.
Folate (folic acid), neural tube defects, 0.4mg (400mcg).
D
non-pregnant 5mcg
Pregnant 5mcg
Lactating 5mcg
Involved in absorption of calcium and phosphorus; improves mineralization
Fortified milk and margarine, egg yolk, butter, liver, seafood
Proper closure of the neural tube is required for
normal formation of the spinal cord, and the neural tube begins to close within the first month of gestation, often before the woman realizes that she is pregnant.
When assessing pregnant women, it is critical that nurses are alert for factors that could place women at nutritional risk so that early intervention can be implemented. Name five such indicators or risk factors of which the nurse should be aware.
Adolescence, frequent pregnancies 3 within 2 years, Poverty, Poor fetal outcome in a previous pregnancy, poor diet habits with resistance to change, use of tobacco, alcohol, or drugs
Discomfort of pregnancy that is usually caused by reflex of gastric contents into the esophagus.
Pyrosis
Kelly (5’ 8” and 120 pounds) complains to you that her physician recommended a weight gain of approximately 30 pounds during her pregnancy. She states, “Babies only weigh about 7 pounds when they are born. Why do I have to gain much more than that?”
0.6 to 0.8kg weekly for underweight women.
Increase risk for preterm labor and LBW infants.Weight gain is not only the infants weight but the added tissues and bodily fluids you will need to gain to support the life of the developing infant.
Severe and persistent vomiting during pregnancy causing weight loss; dehydration, and electrolyte abnomalities.
Hyperemesis gravidarum
A healthful diet before conception is the
best way to ensure that adequate nutrients are available for the developing fetus.
Folate
Non-pregnant 400 mcg
Pregnant 600 mcg
Lactating 500 mcg
Prevention of neural tube defects, support for increased maternal RBC formation
Fortified ready-to-eat cereals and other grain products, green leafy vegetables, oranges, broccoli, asparagus, artichokes, liver
The guide that can be used to make daily food choices during pregnancy and lactation, just as during other stages of the life cycle.
My pyramid
Moderately LBW
birth weight of 1500 to 2400g.
LWB
Low birth weight
LBW
birth weight of 2500 g or less.
Neural tube defects (failure in closure of the neural tube) are more common in
infants of women with poor folic acid intake.
Because of the increase in RBC production during pregnancy and the nutrition requirements of the rapidly growing cells in the fetus and placenta, pregnant women should consume about
50% more folic acid than nonpregnant women, between 0.4 mg (400 mcg) and 0.6 mg (600 mcg) daily.
_________________________ presence of ketones in the urine as a result of catabolism of fat stores; it has been found to correlate with the occurrence of _________________.
Ketonuria
preterm labor
The first trimester of pregnancy is
crucial one for embryonic and fetal organ development.
______Method used to evaluate the appropriateness of weight for height. If the calculated value is less than 18.5, the person is considered to be _______________. If the value is between 18.5 and 24.9 the person is ______________________.
If the calculated value is between 25 and 29.9 the person is _________________.
And if the value is greater than 30 the person is ______________________.
BMI underweight normal weight, overweight obese
Protein
the nutrition element basic to growth. Adequate protein intake is essential to meet increasing demands in pregnancy. These demands arise from the rapid growth of the fetus; the enlargement of the uterus and its supporting structures, the mammary glands, and the placenta; an increase in maternal circulating blood volume and subsequent demand for increased amounts of plasma protein to maintain colloidal osmotic pressure; and the formation of amniotic fluid.
Milk, meat, eggs, and cheese are complete-protein foods with a high biologic value. Legumes (dried beans and peas), whole grains, and nuts are also valuable sources of protein.
Non-Pregnant 46g, first trimester 46g, 2nd and 3rd trimester needs 71g, lactating 71g
Note: #’s with / between 1st is for under 19 yrs, 2nd for 19 - 50 yrs.
Evaluation of nutritional status is an essential part of a thorough physical assessment of pregnant women. Cite 4 signs of good nutrition and four signs of inadequate nutrition that the nurse should observe for during the assessment of a pregnant woman.
Healthy
Eyes
Bright, clear, shiny, no sores at corners of eyelids, membranes moist and healthy pink color, no prominent blood vessels or mound of tissue (Bitot’s spots) on sclera, no fatigue circles beneath
Unhealthy
Eye membranes pale, redness of membrane, dryness, signs of infection, Bitot’s spots, redness and fissuring of eyelid corners, dryness of eye membrane, dull appearance of cornea, soft cornea, blue sclerae
______________________ is the practice of consuming nonfood substance such as __________________, _________________
and ___________________ or excessive amounts of food stuffs low in nutritional value such as ________________ and ______________.
Pica clay dirt laundry starch ice baking powder baking soda cornstarch
Cont.
Healthy
Extremities
No tenderness, weakness, or swelling; nails firm and pink
Unhealthy
Edema, tender calves, tingling, weakness; nails spoon-shaped, brittle
Gastrointestinal Function
Healthy
Good appetite and digestion, normal regular elimination, no palpable organs or masses
Unhealthy
Anorexia, indigestion, constipation or diarrhea, liver or spleen enlargement
A 25-year-old pregnant woman is at 10 weeks of gestation. Her BMI is calculated to be 24. Which is recommended in terms of weight gain during pregnancy?
a. Total weight gain of 18kg
b. First trimester weight gain of 1 to 2.5 kg
c. Weight gain of 0.4 kg each week for 40 weeks
d. Weight gain of 3 kg per month during the second and third trimesters
b; BMI indicates woman is at a normal weight; total gain should be 11.5 to 16 kg representing a gain of 0.4kg/week and 1.6kg/month during the second and third trimesters.
The risk of inappropriate weight gain during pregnancy (inadequate, excessive)?
Inadequate weight can have an increase risk for intrauterine growth restriction.
When obesity is present (either preexisting or developed during pregnancy), there is an increased likelihood of macrosomia and fetopelvic disproportion; operative birth; emergency cesarean birth; postpartum hemorrhage; wound, genital tract, or urinary tract infection; birth trauma; and late fetal death. Obese women are more likely than normal-weight women to have preeclampsia and gestational diabetes
SGA
small-for-gestational-age or preterm infant
during the first trimester, when the embryo or fetus is very small,
the needs are only slightly increased over those before pregnancy.
A pregnant woman at 6 weeks of gestation tells her nurse midwife that she has been experiencing nausea with occasional vomiting every day. The nurse could recommend which as an effective relief measure?
a. Eat starchy foods such as buttered popcorn or peanut butter with crackers in the morning before getting out of bed.
b. Avoid eating before going to bed at night.
c. Alter eating patterns to a schedule of small meals every 2 to 3 hours.
d. Skip a meal if nausea is experienced.
c; small, frequent meals are better tolerated than large meals that distend the stomach; hunger can worsen nausea; therefore, meals should not be skipped; dry, starchy foods should be eaten in the morning and at other times during the day when nausea occurs; fried, fatty, and spicy foods should be avoided; a bedtime snack is recommended.
B6 or pyridoxine (mg)
Non-pregnant 1.2/1.3 mg
Pregnant 1.9 mg
Lactating 2 mg
Involved in protein metabolism
Meats, liver, deep green vegetables, whole grains
healthy diet before conception
is the best way to ensure that adequate nutrients are available for the developing fetus.
__________________ nutritional recommendations from the Food and Nutrition Board of the National Academy of Sciences that consist of _____________________, ________________ and _____________________
Daily Reference Intake (DRI), Recommended Daily Allowances (RDA), Adequate intakes (AI); Upper Limits.
Water soluble vitamins
C
Non-pregnant 65/75 mg
Pregnant 80/85 mg
Lactating 115/120 mg
Tissue formation and integrity, formation of connective tissue; enhancement of iron absorption
Citrus fruits, strawberries, melons, broccoli, tomatoes, peppers, raw deep green leafy vegetables
General Appearance
Healthy
Alert, responsive, energetic, good endurance
Unhealthy
Listless, apathetic, cachectic, easily fatigued, looks tired
Cardiovascular Function
Healthy
Normal heart rate and rhythm, no murmurs, normal blood pressure for age
Unhealthy
Rapid heart rate, enlarged heart, abnormal rhythm, elevated blood pressure
Zinc
Component of numerous enzyme systems; possibly important in preventing congenital malformations.
Liver, shellfish, meats, whole grains, milk
Non-Pregnant 9/8mg, Pregnant 12/11, lactating 11/12
Fat soluble vitamins
A
A (mcg)
Non-pregnant 700mcg
Pregnant 750/770 mcg
Lactating 1200/1300mcg
Essential for cell development, tooth bud formation, bone growth
Deep green leafy vegetables, dark yellow vegetables, fruits, chili peppers, liver, fortified margarine and butter
Folate or folic acid intake is of particular concern in the periconceptual period.
Folate is the form in which this vitamin is found naturally in foods, and folic acid is the form used in fortification of grain products and other foods and in vitamin supplements.
_____________________ normal adaptation that occurs during pregnancy when the plasma volume increases more rapidly than RBC mass.
Physiologic anemia
A 30-year-old woman at 16 weeks of gestation comes for a routine prenatal visit. Her 24-hour dietary recall is evaluated by the nurse. Which of the following entries would indicate that this woman needs further instructions regarding nutrient needs during pregnancy?
a. Eight ounces total from the meat, poultry, fish, dry beans, eggs, and nuts group
b. Three servings each from the vegetable and fruit groups
c. Daily iron supplement taken at bedtime with a glass of orange juice
d. Three servings from the milk and milk products group
a; up to 60z total are suggested for meat, poultry, fish, dry beans, eggs, and nut group during pregnancy; choices b, c, and d are all appropriate for pregnancy; orange juice contains vitamin C and will enhance iron absorption (see Table 12-3).
The urge to consume specific types of food such as ice cream, pickles, and pizza during pregnancy.
Food cravings
A nurse teaching a pregnant woman about the importance of iron in her diet would tell her to avoid consuming which of the following foods at the same time as her iron supplement because they will decrease iron absorption? (Circle all that apply.)
a. Tomatoes
b. Spinach
c. Meat
d. Eggs
e. Milk
f. Bran
b, d, e, and f; bran, tea, coffee, milk, oxalate-containing vegetables (spinach, Swiss chard), and egg yolks all decrease iron absorption; tomatoes and strawberries contain vitamin C, which enhances iron absorption; meats contain heme iron, which also enhances absorption.
A 30-year-old pregnant woman with a BMI of 31 asks the nurse about recommendations for diet and weight gain during pregnancy. Which would the nurse tell this woman?
a. Counsel her to begin a lifestyle change for weight reduction
b. Recommend a total weight gain goal of 4 kg during pregnancy
c. Set a weight gain goal of 0.3 kg per week during the second and third trimesters
d. Limit her third trimester calorie increase to no more than 600 Kcal more than pre-pregnant needs
c; BMI indicates that this woman is obese; she should not consider a weight loss regimen until healing is complete in the postpartum period; she should gain at least 7 kg; increase in calories should reflect energy expenditure of the pregnancy during the third trimester, which would be approximately 462 kcal.
B12
Non-pregnant 2.4 mcg
Pregnant 2.6 mcg
Lactating 2.8 mcg
Production of nucleic acids and proteins; especially important in formation of RBC and neural functioning
Milk and milk products, eggs, meats, liver, fortified soy milk
Discomfort of pregnancy characterized by infrequent and difficult passage of hard stool.
Constipation
Iron
Iron is needed both to allow transfer of adequate iron to the fetus and to permit expansion of the maternal red blood cell (RBC) mass.
women who have iron deficiency anemia during early pregnancy are at increased risk of preterm birth.
The RDA of iron during pregnancy is 27 mg per day. Pregnant women should receive a supplement of 30 mg of ferrous iron daily, starting by 12 weeks of gestation. Maternal hemoglobin formation; fetal liver iron storage.
Liver, meats, whole grain or enriched breads and cereals, deep green leafy vegetables, legumes, dried fruits
Non-pregnant 15/18, lactating 10/9 mgs
What is the pregnancy risk for underweight women?
Preterm labor and LBW infants.
fetal growth progresses during the second and third trimesters
the pregnant woman’s need for some nutrients increases greatly.
estimated energy expenditure for the first trimester is the same as in the prepregnant state;
during the second trimester ____________________ and during the third trimester
the RDA is 340 kcal greater than the prepregnancy needs, and third it is 462 kcal more than the prepregnant needs
At her first prenatal visit, Marie, a 20yr old primigravida, reports that she has been a strict vegetarian for the past 3 years. Identify 2 major guidelines that the nurse should follow when planning menus with Marie.
Needs to be taking a B12 supplement or regular consume vitamin B12 fortified foods. EX; soy milk. Assess protein intake, plant proteins are not complete proteins, need a wide variety of plant protein including nuts and seeds. Should also check for low levels of Iron, calcium, zinc and vitamin B6.
Very low birth weight
birth weight of less than 1500g.
Calcium
Fetal and infant skeleton and tooth formation; maintenance of maternal bone and tooth mineralization. Milk, cheese, yogurt, sardines or other fish eaten with bones left in; deep green leafy vegetables except spinach or Swiss chard; calcium-set tofu, baked beans, tortillas. The DRI (1000 mg daily for women 19 years and older and 1300 mg for those younger than 19 years) Calcium supplements may also be recommended when a pregnant woman experiences leg cramps caused by an imbalance in the calcium-to-phosphorus ratio.
E
Non-pregnant 15mg
Pregnant 15mg
Lactating 19mg
Antioxidant (protects cell membranes from damage), especially important for preventing breakdown of RBCs
Vegetable oils, green leafy vegetables, whole grains, liver, nuts and seeds, cheese, fish
K
Non-pregnant 90 mcg
Pregnant 75 mcg (14-18yr old) and 90 mcg (19-50yr old)
Lactating 75 mcg (14-18yr old) and 90 mcg (19-50yr old)
Involved in synthesis of protein, blood coagulation, and bone metabolism
Green leafy vegetables, plant oils, margarine, soybeans, lentils
Prepregnant BMI can be classified into the following categories:
less than 18.5, underweight or low; 18.5 to 24.9, normal; 25 to 29.9, overweight or high; and greater than 30, obese
A woman demonstrates an understanding of the importance of increasing her intake of foods high in folic acid (l00mcg or more) when she includes which foods in her diet? (Circle all that apply.)
a. Seafood
b. Legumes
c. Eggs
d. Liver
e. Asparagus
f. Oranges
b, d, and e; legumes are a good source for folic acid along with whole grains and fortified cereals, oranges, asparagus, liver, and green leafy vegetables; choices a, c, and f are not good sources of folic acid though they do supply other important nutrients for pregnancy (see Box 12-1).
African American
Healthy - Family involvement.
Unhealthy - Animal proteins and oils, increased sodium, increased incident for type 2 diabetes.
- Describe the major teaching points that should be on the nutritional teaching plan for the client.
Encourage continued high intake of a plant-based diet, decreased salt intake, and adequate
calcium intake.
Special food preparations
kosher kitchens in Orthodox Jewish homes
pure vegetarian diet
do not consume animal products of any type,
including eggs and all milk products. Vitamin B12 and vitamin D
supplementation may be needed with a pure vegan diet.
Avoidance of stimulants (coffee, tea, caffeinated soda)
Muslims and Mormons
Fasting for religious holidays
Ramadan for Muslims, or refraining from meat
consumption on Ash Wednesday and Fridays during Lent for Catholics
- Discuss the traditional Asian foodway and the benefits of the dietary pattern on the heart.
Traditional Asian foodway:
● Plant-based diet
● Consume raw fruits and vegetables
● Stir-fry quickly to retain crispness of foods, which retain vitamins
● Use of plant-based oils
● High sodium content of diet from spices and condiments (soy source)
● Major protein sources are plant-based (soy), fish, shellfish, poultry, and nuts
● Rare use of red meats, consumed in small portions
● Moderate portions of all food groups (cultural value on moderation in life)
Benefits to heart:
● Low cholesterol and lipids
● Generally not overweight
lacto-ovo-vegetarian
consume milk products and
eggs in addition to vegetables.
ethnocentrism,
is the belief
that one’s own cultural practices are the only correct behaviors, beliefs, attitudes, and
values.
- An ethnocentric approach to filling out a client’s menu to provide for more calcium is to:
A. ask the client what he likes to eat.
B. call the dietician to fill the menu out.
C. recommend one’s own favorite foods.
D. have the family fill out the menu.
C. recommend one’s own favorite foods.
Ethnocentrism is the belief that the dominant or host culture’s practices are the only correct
behaviors/beliefs. Contacting the dietician, family, or client regarding menu selection is not
an ethnocentric approach.
Prescriptive guidelines for animal slaughter
Islam and Orthodox Judaism
Latino American
Healthy - Plant based diet, fruits in diet, family involvement
Unhealthy - Animal proteins and oils, increased incident of type 2 diabetes, risk calcium deficit due to lactose intolerance.
Scenario: A nurse is caring for a client recently admitted to the cardiac telemetry unit post myocardial
infarction. The client is a business executive who is Euro-American. He states that he doesn’t understand
why he had a heart attack and says, “I’ve been eating like my Asian co-workers in China and they are
so healthy.” When asked how he prepares his Asian cuisine, he states that during the work week he eats
a bowl of multigrain cereal for breakfast, and often eats at one of several local Asian restaurants or gets
Chinese take-out for lunch and dinner.
The first 3 questions go with this scenario.
- Describe the steps that should be taken to determine the benefits and risks of the client’s eating
pattern.
Assess your knowledge of the client’s foodway and obtain assistance if necessary.
Set a leisurely and attentive atmosphere for a discussion.
Ask the client to describe 2 days of typical meals, snacks, and fluid consumption during his
work week.
Discuss how meals and snacks are prepared.
Discuss portions/amounts of the different foods typically consumed.
Supply written material on traditional Asian foods, food preparations, and portions.
Compare and contrast the traditional Asian foodway with the client’s description of his diet.
Explore ways to better closely align the client’s diet with the traditional Asian foodway.
Request a dietary consult from the provider.
Provide printed follow-up information from discussion.
lactovegetarian diet
consume milk products in addition to
vegetables.
- Identify healthy and unhealthy aspects of the following traditional foodways:
African American, Asian American, Latino American.
:) next three cards answer this.
Religion has a profound influence on foodways.
Feasting/celebration foods.
Acculturation
is the process of a cultural, ethnic, or religious group’s adopting of the
dominant culture’s behaviors, beliefs, and values.
- A nurse is attending a class on culture and food. Which of the following statements made by the
nurse indicates a need for further teaching?
A. “Clients who practice Roman Catholicism do not drink coffee, tea, or caffeinated
sodas.”
B. “By working closely with nutritional services, I can meet the prescribed diet and still follow my
client’s religious practices.”
C. “Clients who follow the teachings of Islam and Orthodox Judaism eat only specified animals
that are slaughtered under strict guidelines.”
D. “Because not all individuals in one country necessarily practice the same religion, I cannot
consider ethnicity alone in my plan of care.”
A. “Clients who practice Roman Catholicism do not drink coffee, tea, or caffeinated
sodas.”
Stimulants (coffee, tea, caffeinated sodas) are not consumed by Muslims or Mormons. A
Roman Catholic cultural practice is not eating meat on Ash Wednesday or Fridays during
Lent. The other statements made by the nurse are appropriate and do not require additional
cultural education.
Asian American
Healthy - Plant base diet, Fruits in diet.
Unhealthy - Increased sodium, risk calcium deficit due to plant based diet.
The practice of vegetarianism
Seventh-Day Adventists and some Buddhists
Tay-Sachs
Autosomal recessive
Symptoms: appears healthy at birth, by six months having problems. Lack enzyme hexosaminidase A (Hex-A). Hex-A needed to break down fatty waste in brain. Mostly found in Ashkenazi Jews.
No treatment. No cure. Only prevention. Tay-Sachs children usually die by age 5.
Genetic test to see if you are carrier, them don’t have children.
To reduce symptoms medication can be given.
Infants are given feeding tubes when they can no longer swallow.
Alpert,s cont.
Signs include: Changes to the eye, including the fundus (back inner part of the eye), cataracts, or bulging of the lens (lenticonus), High blood pressure.
The following tests may be done: Audiometry, BUN and serum creatinine, CBC, Renal biopsy
Urinalysis. The goals of treatment include monitoring and controlling the disease and treating the symptoms. It is most important to strictly control blood pressure.
Hearing loss is likely to be permanent.
Women usually have a normal lifespan with no signs of the disease except for blood in the urine. In men, deafness, vision problems, and end-stage kidney disease are likely by age 50.
Huntinton’s Disease is Autosomal Dominant
Is an inherited disease that causes certain brain cells to waste away.
Symptoms do not appear until middle age. Has a broad impact on a person’s functional abilities. Diagnosis can be confirmed with a genetic test.
No cure, treat only symptoms, but nothing slows it down.
Marfan Syndrome
Autosomal Dominant
Affects connective tissue. A problem with the fibrillin gene. It can be mild to severe. Person is often very tall, thin and loose jointed, have heart and blood vessel problems, weakness in aorta and/or leaky heart valves. May also have problems with bones, skin, eyes, lungs, and nervous system.
No cure, treat symptoms.
Diagnosis is through a comprehensive clinical evaluation.
Turner Syndrome
Chromosome Abnormality
Is caused when a woman inherits only one X chromosome. It can also be caused from inheriting only 1/2 of an X chromosome.
Missing the X is often recognized at birth. Baby has a webbed neck, lower posterior hairline , widely spaced nipples and edema in hands and feet. Diagnosis is confirmed with a negative sex chromatin test.
Girls are short, infertile and socially immature. Treatment with hormones and psychologic counseling.
Polycystic kidney disease (PKD)
autosomal dominant
Usually appears about middle age. There is an autosomal recessive form PKS it appears in children and infants, but not very common. It is very serious usually leads to death.
PKD causes clusters of cyst to form in the kidneys.
Symptoms: abdominal pain, flank pain, blood in urine, excessive urination at night. Treatment is to control symptoms.
With high blood pressure meds, diuretics and low salt diet. Eventually leads to kidney failure. Can also affect the liver.
Important to control high blood pressure.
Alport’s syndrome. X-linked dominate
Alport syndrome is an inherited disorder that damages the tiny blood vessels in the kidneys.
Alport syndrome is an inherited form of kidney inflammation (nephritis). It is caused by a mutation in a gene for a protein in the connective tissue, called collagen.
The disorder is uncommon. It most often affects males. Women can pass the gene for the disorder to their children, even if they have no symptoms.
Risk factors include: End-stage kidney disease in male relatives, Family history of Alport syndrome, Hearing loss before age 30.
Kidney filtering disorder.The condition can progress to end-stage renal disease (ESRD) at an early age (between adolescence and age 40).
Sickle cell anemia Autosomal recessive
Thalassemia
Body produces abnormally shaped RBC. RBC are shaped like a crescent or sickle. The sickle cells can get stuck in blood vessel blocking blood flow. This can cause pain and organ damage. People with this disease are born with 2 sickle cell genes 1 from each parent. If they have only 1 gene it is called a trait.
A blood test can determine if you have the disease or trait. Most states test newborns as part of newborn screening.
About 1 out of 12 African-Americans have sickle cell trait.
Hydroxyurea can reduce pain crises, stroke, disability and death. Need to avoid dehydration and getting too hot.
Cooley’s anemia most severe form people receive blood transfusion every 2 to 3 weeks, resulting in 52 pints a year.
X-Linked Dominant
Affected males give it to their daughters but not to the sons.
Affected female carriers give the disorder to 50% of her children, regardless of their sex.
Many of x-linked dominant disorders are fatal in males. In females it is not as severe since they get one normal gene and one abnormal.
More females than males have the disorder.
Neurofibromatosis, autosomal dominant
Recklinghausen’s or von Recklinhausen’s disease
Elephant man’s disease
A genetic disorder of the nervous system. Affects how nerves cells grow and form. Causes tumors to grow on the nerves. Can get it from your parents or from a mutated gene.
3 Types
Type 1(NF1) causes skin changes and deformed bones and usually starts at birth.
Type 2(NF2) causes hearing loss, ringing in the ears and poor balance. Starts in teen years.
Schwannomatosis causes intense pain This one is rare.
No cure, treatment is aimed at controlling the symptoms.
Other forms of Down syndrome
Mosaic Down Syndrome is rare. Some cells have an extra copy of the chromosome 21 and some don’t. This happens after fertilization from abnormal cell division.
Translocation Down Syndrome this is uncommon. It occurs when part of the chromosome 21 is attached (translocated) to another chromosome before or at conception.
Down Syndrome
Chromosome Abnormality
Has 3 copies of the trisomy 21 chromosome, usually caused by abnormal cell division during the development of the sperm cell or the egg cell.
the risk of having a child with Down syndrome increases with maternal age, but can be born to mothers of any age.
Test
During 1st trimester ultrasound to look at the back of fetus neck of excess fluid accumulation called nuchal translucency.
Blood test PAPP-A (pregnancy associated plasma protein-A) and HCG (human chorionic gonadotropin) abnormal levels indicate problem with fetus.
2nd trimester abnormal levels of alpha fetoprotein, estrion, HCG and inhibin A.
Amniocentesis after 15 weeks, Chorionic villus sampling (CVS) cell taken from placenta between 9th and 14th week. PUBS-(Percutaneous umbilical blood sampling) test on blood from vein in umbilical cord after 18th week.
Progeria Autosomal dominant disorder
Early and rapid aging.
Hutchinson-Gillford progeria syndrome a single gene mutation, lamin A (LMNA). LMNA makes a protein necessary to hold the center of a cell together. It is not inherited, mutation occurs in the sperm or egg right before conception.
Genetic test for LMNA mutation.
Failure to grow and hair loss is noticed very early.
No cure, only treat symptoms.
Rickets cont.
Diagnosis/testing. Low serum phosphate concentration and reduced tubular resorption of phosphate corrected for glomerular filtration rate. Molecular genetic testing of PHEX, the only gene in which mutations are known to cause XLH, is available clinically.
Management. Treatment of manifestations: Pain and lower extremity bowing improve with frequent oral administration of phosphate and high-dose calcitriol. Children are generally treated from the time of diagnosis to the cessation of long bone growth.
Hereditary hypophosphatemic Ricket’s
is a disorder related to low levels of phosphate in the blood. The features of the disorder vary widely. Mildly affected individuals may not have signs and symptoms. severely affected children experience slow growth and are shorter than their peers. They develop bone abnormalities that can interfere with movement and cause bone pain. The most noticeable of these abnormalities are bowed legs or knock knees (a condition in which the lower legs are positioned at an outward angle). These abnormalities become apparent with weight-bearing activities such as walking. premature fusion of the skull bones (craniosynostosis) and dental abnormalities. The disorder may also cause abnormal bone growth where ligaments and tendons attach to joints (enthesopathy). In adults, hypophosphatemia is characterized by a softening of the bones known as osteomalacia.
Chromosome Disorders
either you have to many chromosomes or not enough.
PKU Phenylketonuria Autosomal recessive
is caused by a mutation in a gene that helps create the enzyme needed to break down phenylalanine. Newborns are screened at birth with Guthrie test, and repeated two weeks later to confirm results.
Symptoms none at first. later stunned growth, behavioral problems, mental retardation, skin rashes, “musty” odor from breath, sweat and urine.
Diet free of PKU protein. High protein foods should be avoided. Current recommendation is for a person to stay on a PKU free diet. Adherence to the diet greatly reduces risk of complications.
Cystic Fibrosis Autosomal Recessive
It is an inherited disease affecting the mucus and sweat glands. It mostly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs. CF causes mucus to be thick and sticky. Symptoms and severity vary widely. Some have serious problems from birth while others don’t have problems until childhood or teenager. Treatments have improved but still only treat the symptoms.
Galactosemia
Autosomal recessive
Can be confused with lactose intolerance
Rare 1in 60K in US
Long term complications include: speech problems, ataxia, dysmetria, diminished bone density, premature ovarian failure, cataract.
Treatment is eliminating lactose and galactose from diet
Infants with galactosemia can develop symptoms in the first few days of life if they eat formula or breast milk that contains lactose. The symptoms may be due to a serious blood infection with the bacteria E. coli.
Convulsions, Irritability, Lethargy, Poor feeding (baby refuses to eat formula containing milk), Poor weight gain, Yellow skin and whites of the eyes (jaundice) Vomiting.
Signs/S: Amino acids in the urine and/or blood plasma (aminoaciduria), Enlarged liver (hepatomegaly), Fluid in the abdomen (ascites), Low blood sugar (hypoglycemia), Newborn screening in many states will test for this condition.
Autism
Chromosome abnormalities
ASD spectrum disorder are complex neuro developmental disorders of brain function accompanied by intellectual and social behavior defects.
Noticed in early childhood 24 to 48 months. It is recognized as a genetic disorder of prenatal and postnatal brain disorder.
Klinefelter’s Syndrome
Chromosomal disorder
In boys. Most common form has 47 chromosomes XXY. Isn’t recognized until puberty. Infertile with varying degrees of mental and motor skills disabilities. Treatment with testosterone therapy.
Test : Chromatin positive buccal smear
Autosomal Recessive
You can be a carrier without having the disorder.
If you have the disorder and your parents don’t them they were both carriers.
1 parent has the disorder and the other is a carrier then 50% of offspring will have it and 25% will carry it.
Both parents are carriers but don’t have it then 25% of offspring will have it and 50% will carry it.
Autosomal Dominant
1 parent has the disorder the other does not. EACH child has a 50% chance of inheriting the disorder.
If you don’t have the disorder you don’t carry the gene.
But it can rise as a new mutation.
X-Linked Recessive
Almost all affected are male.
Daughters of affected males will be carriers.
Affected male dose not give it to his sons.
Females that carry the disorder their sons will have it. And 50% of their daughters will carry it.
An affected male and a carrier female can have a daughter that will have the disorder.
Down syndrome
Is a genetic disorder that causes life long mental retardation, developmental delays ranging from moderate to serious.
Early intervention programs can make a difference in how well the child develops. Early stimulation of sensory, motor and cognitive activities helps the baby develop.
