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60 Cards in this Set
- Front
- Back
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What is a syndrome?
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association of symptoms that together are characteristic of a specific disorder or disease.
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Single gene mutation
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minute abnormality that will not change chromosome number or structure, but can result in extensive physical and mental disorders.
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Autosomal dominant inheritance
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occurs on an autosomal (non-sex determining) chromosome. Because its dominant, the phenotype it gives will be expressed, even if the gene is heterozygous (+/-).
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Examples of autosomal dominant disorders
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Achondroplasia
Ehlers-Danlos syndrome Marfan Syndrome Huntington's Disease |
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Autosomal Recessive inheritance
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children who display an autosomal recessive disorder will always be homozygous for that trait (-/-)
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Examples of autosomal recessive disorders
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Cystic fibrosis
PKU Sickle cell Tay-Sachs |
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Sex-linked inheritance
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transmission of genes located on one of the sex chromosomes (either x or y)
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x-linked dominant inheritance
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both males and females can be affected, but women are usually LESS severely affected than men, affected men do NOT transmit to their sons, all daughters of an infected man are affected and have a 50% chance of passing on to their offspring.
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Examples of x-linked dominant disorders
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hypophosphatemic vitamin D-resistant rickets
Incontinentia pigmenti |
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x-linked recessive inheritance
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teh effect of the abnormal allele is "hidden" by the normal (dominant) allele. Therefore, women who are homozygous (X/X) will be affected whereas women who are heterozygous (X/x) will be asymptomatic carriers.
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Examples x-linked recessive disorders
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Hemophilia A & B
Duchenne Muscular Dystrophy |
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Management of Genetic Disorders: Diet Modification
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For disorders in which an enzyme deficiency causes a toxic accumulation of a substance or its byproducts, restricting intake can prevent irreversible damage from improper metabolism of these compounds.
Dietary control is lifelong. Examples: PKU, lactose intolerance, galactosemia |
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Management of Genetic Disorders: Folic Acid
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Supplementation before conception has shown to reduce the incidence or recurrence of neural tube defects (NTD's).
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Management of Genetic Disorders: Immunologic Prevention
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administration of RhoGAM to Rh- mothers after delivery of an Rh+ infant is effective in preventing Rh antibody formation that causes hemolytic disease of the newborn in subsequent births.
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Management of Genetic Disorders: Transplantation
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replacement of nonfunctioning organs with normal ones is increasing the survival rate of children with defective orgrans because tissue incompatability is better controlled.
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Management of Genetic Disorders: Gene transfer
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Acheived thru introduction of the corrective gene fragments by a harmless virus vector.
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Genetic screening
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presumptive identification of an unrecognizable genotype in individuals or populations
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3 purposes for genetic screening
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1. to provide for early recognition of a disease before symptoms occur
2. identification of carriers of a genetic disease. 3. obtain population data on frequency, spectrum, and natural history of a disease. |
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5 leading causes of death in children age 1-4
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1. Accidents
2. Congenital Anomalies 3. Cancer 4. Homicide 5. Heart Disease |
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5 leading causes of death in children age 5-14
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1. Accidents
2. Cancer 3. Congenital anomalies 4. Homicide 5. Suicide |
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5 leading causes of death in children age 15-24
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1. Accidents
2. Homicide 3. Suicide 4. Cancer 5. Heart Disease |
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Epidemiologic Triangle
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Host - Agent - Environment
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Risk factors related to host
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Gender
Temperament Stress Alcohol and Drug use History of previous injury Age specific characteristics Anatomic characteristics |
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Risk factors related to agent
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Motor vehicles
Water Guns Fires (burns) Choking Fall Poisons SNAT (suspected non-accidental trauma) |
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Risk factors related to environment
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Under 6: home
older children: outside Recreational sport: football Drowning (esp. Arizona) |
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Key to accidents and Injuries
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PREVENTION!
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What is Morbidity?
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the incidence or prevalence of disease in a given time frame, for a particular population
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Most common types of acute illness in children
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Respiratory illness
Infection and parasitic disease Injuries |
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What has been nicknamed "the new morbidity"?
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Pediatric social illness
Problems that interfere with a childs social and academic development. Includes poverty, violence, aggression, noncompliance, school failure, and adjustment to divorce. |
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Family Centered Care
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Care taht recognizes the family as the constant in the childs life.
Enable, Empower, Partner |
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Atraumatic Care
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provision of therapeutic care that eliminates or minimizes the psychological and physical distress experienced by children and their families in the health care system.
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Culture
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pattern of assumptions, beliefs, and practices that unconciously frames or guides the outlook and decisions of a group of people.
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Primary Group
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characterized by intimate, continued, face to face contact, mutual support of members and ability to order or constrain a considerable portion of individual members behavior.
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Secondary Group
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limited, intermittent contact and in which there is generally less concern for members behavior.
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Religion
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dictates a code of morality and influences the family's attitudes toward education, male and female role identity, and their ultimate destiny.
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5 Rights of Delegation
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Right task
Right circumstances Right person Right direction and communication Right supervision |
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Standards of Care
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ADOPIE
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Standards of Professional Performance
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Quality of Care
Performance Appraisal Education Collegiality Ethics Collaboration Research (Utilization) |
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Cultural factors
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Race
Ethnicity (customs) Socialization Homogenization vs. valuing of ethnic diversity Bicultural |
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Social Factors
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Roles (Primary, Secondary Groups)
Class Occupation Schools Peers |
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Religion Factors
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Beliefs
Rites |
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Socioeconomic Factors
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Poverty
Homelessness Migrant Families |
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Erikson: Infant
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Birth - 1 year
Trust vs. Mistrust |
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Erikson: Autonomy vs. shame and doubt
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Toddler
1 - 3 years |
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Erikson: Preschooler
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3 - 6 years
Initiative vs. guilt |
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Erikson: School age
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6 - 12 years
Industry vs. Inferiority |
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Erikson: Identity vs. Role confusion
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Adolescence
12 - 18 years |
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Erikson: Early Adulthood
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Intimacy and solidarity vs. Isolation
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Erikson: Young and Middle Adulthood
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Generativity vs. Self-Absorption
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Erikson: Later Adulthood
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Ego Integrity vs. Despair
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Piaget: Infancy
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Birth - 2 years
Sensorimotor |
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Piaget: Early Childhood
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2 - 7 years
Pre-operational Thought |
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Piaget: Concrete Operational
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Middle Childhood
7 - 11 years |
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Piaget: Adolescence
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11 - 15 years
Formal Operational |
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Race
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division of mankind possessing traits that are transmissible by descent and that are sufficient to characterize it as a distinct human type.
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Ethnicity
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affiliation of a set of persons who share a unique cultural, social, and linguistic heritage.
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Socialization
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process by which children acquire the beliefs, values, and behaviors of a given society in order to function within that group.
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7 Patient Rights (medication)
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Right Patient
Right Drug Right Dose Right Time Right Route Right Documentation Right Approach |
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IV Maintenance Fluids Calcualtion
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1st 10 kg: 100 ml/kg/day
2nd 10 kg: 50 ml/kg/day >20 kg: 20 ml/kg/day |
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Whose the bomb?
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Me, of course! Hehe, I had one flashcard left over and didn't know what to do with it.
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