Diseases Of Infancy And Childhood

Question 1

What is the reason why infant mortality rate is higher in the US?

Answer 1

SES factors
Higher in southern states
Black > Native American > native Hawaiian > Hispanic > white > Asian
Maternal Age - highest under 20 and 40-64
Males > females

Question 2

What is a disease?

Answer 2

Any deviation from or interruption of the normal structure or function of a part, an organ, or a system of the body as manifested by characteristic sx and signs

Question 3

What is a disorder?

Answer 3

A derangement or abnormality of function

A morbid physical or mental state/condition

Question 4

What is a neoplasm?

Answer 4

Any new and abnormal growth

Specifically a new growth of tissue in which the growth is uncontrollable and progressive

Question 5

What is a syndrome?

Answer 5

A set of sx that occur together

The sum of signs of any morbid state

Question 6

What are congenital anomalies?

Answer 6

Anatomic defects that are present at brith but some such as cardiac defects and renal anomalies may not become clinically apparent until years later

Question 7

What are malformations?

Answer 7

Represent primary errors of morphogenesis in which there is an intrinsically abnormal developmental process
Most commonly are multifactorial but they can also be due to single gene or chromosomal defects and they can affect a single organ/system or multiple organs/systems

Question 8

What are some examples of malformations?

Answer 8

Polydactyly, syndactyly, cleft palate/lip, congenital heart defect and anencephaly

Question 9

What are disruptions?

Answer 9

Result from secondary destruction of an organ or body region that was previously normal in development
Arise from extrinsic disturbance in morphogenesis
Can be caused by a variety of environmental agents
Not heritable and not associated with increased risk in subsequent pregnancy

Question 10

What is the classic example for a disruption?

Answer 10

Amniotic bands

Amnion ruptures and forms bands that encircle, compress or attach to parts of the developing fetus

Question 11

What are deformations?

Answer 11

An extrinsic disturbance of development
Localized or generalized compression of the growing fetus by abnormal biochemical forces leading to structural abnormalities

Question 12

What is the most common underlying factor responsible for deformations?

Answer 12

Uterine constraint
Size of the fetus outpaces the growth of the uterus in b/w weeks 35-38 —> amount of amniotic fluid decreases
Even the normal fetus is subject to uterine constraint

Question 13

What are some maternal factors that can increase the likelihood fo excessive compression of the fetus resulting in deformations?

Answer 13

First pregnancy, small uterus, malformed (e.g. bicornuate) uterus and leiomyomas

Question 14

What are fetal or placental factors that can lead to increased likelihood of deformations?

Answer 14

Oligohydramnios, multiple fetuses and abnormal fetal presentation
Ex. Club feet can occur as a component fo potter sequence

Question 15

What is a sign that can be seen with oligohydramnios/Potters sequence?

Answer 15

Amnion nodosum

White deposits/nodules in the placenta

Question 16

Describe Potter’s sequence

Answer 16

A cascade of anomalies triggered by one initiating aberration
Initiating aberration: oligohydramnios
Flattened faces, positional abnormalities of the hands and clubfeet, dislocated hips and hypoplastic lungs
Amnion nodosum present

Question 17

What is the most common cause of oligohydramnios?

Answer 17

Chronic leakage of amniotic fluid due to rupture of fetal membranes
Other causes include renal agenesis, urinary tract obstruction and uteroplacental insufficiency resulting from maternal HTN (or severe pre-eclampsia)

Question 18

What is a malformation syndrome?

Answer 18

A constellation of congenital anomalies that cannot be explained on the basis of a signal localized initiating defect
Most often caused by a single etiologic agent such as viral infection or specific chromosomal abnormality

Question 19

What is agenesis?

Answer 19

Complete absence of an organ and its associated primordium

Question 20

What is aplasia?

Answer 20

Refers to the absence of an organ but one that occurs due to failure of growth of the existing primordium

Question 21

What is atresia?

Answer 21

Absence of an opening usually of a hollow visceral organ such as the trachea or intestine

Question 22

What is dysplasia?

Answer 22

Abnormal organization of cells

Question 23

What are the most common microbes to cause congenital anomalies during development?

Answer 23

TORCH

Toxoplasmosis, other, rubella, CMV, herpes/HIV

Question 24

What are the 4 most common causes of death in infants younger than 1 year?

Answer 24

Congenital malformations, deformations, chromosomal anomalies
Disorders related to short gestation and low brith weight (prematurity)
SIDS (no explanation even after autopsy)
Newborn affected by maternal complications of pregnancy

Question 25

What are the 4 MCC of death in kids 1-4 years old?

Answer 25

Accidents
Congenital malformations, deformations, chromosomal anomalies
Assault (homicide)
Malignant neoplasms

Question 26

What are the 4 MCC of death in kids 5-9 years old?

Answer 26

Accidents
Malignant neoplasms
Congenital malformations, deformations, chromosomal anomalies
Assault

Question 27

What are the MCC of death in kids 10-14 years old?

Answer 27

Accidents
Malignant neoplasms
Intentional self harm
Assault

Question 28

What is the percentage of congenital anomalies caused by multifactorial things?

Answer 28

20-25%

Question 29

What is the percentage of congenital anomalies caused by unknown factors?

Answer 29

40-60%

Question 30

Describe fetal alcohol syndrome

Answer 30

Alcohol consumed even in modest amounts during pregnancy is an important environmental teratogen
Affected infants show prenatal and postnatal growth retardation, facial anomalies (microcephaly, short palpebral fissures, maxillary hypoplasia), and psychomotor disturbances (FASD)

Question 31

A person with FASD might have which features?

Answer 31

Abnormal facial features such a smooth ridge between nose and upper lip, small head size, shorter than average height, low body weight, poor coordination, hyperactive behavior, difficulty with attention, poor memory, difficulty in school (esp with math), learning disabilities, speech and language delays, intellectual disability or low IQ, poor reasoning and judgement skills, sleep and sucking problems as a baby, vision or hearing problems, problems with the heat, kidneys or bones

Question 32

When is the embryo extremely susceptible to teratogenesis?

Answer 32

Between the 3rd and 9th weeks

Question 33

Describe valproic acid as a teratogen

Answer 33

An anti-epileptic and recognized teratogen during pregnancy
Disrupts expression of HOX proteins which are implicated in the patterning of limbs, vertebrae and craniofacial structures
Mutations in HOX genes are responsible for congenital anomalies that mimic features observed in valproic acid embryopathy

Question 34

What is the phenotype of embryos that are exposed to excess retinoic acid (teratogen)?

Answer 34

Retinoic acid embryopathy including CNS, cardiac and craniofacial defects such as cleft lip and palate

Question 35

What is heterotopia (choristoma)?

Answer 35

Microscopically normal cells/tissues in abnormal location

Question 36

What is hamartoma?

Answer 36

Excessive focal overgrowth of tissue native to the organ (hemangioma an example)