Chapter 10 Flashcards
What are the time frames for infant and childhood development?
- Neonatal period: first 4 weeks of life
- Infancy: 1st year of life
- Toddler/preschool: 1-4 years
- School age: 5-14 years
In children younger than 1 (infants), what is the primary cause of death?
How does it change as the child ages?
1. Congenital malformation and chromosomal abnormalities.
- Premature bbs: Disorders d/t short gestation and low birth weight
3. Sudden infant death syndrome (SIDS)
*Respiratory distress of the newborn is another cause
As the child ages, it falls off off
In children 1-4 (toddler/preschool) what is the primary cause of death?
How does it change as the child ages?
What conditions start to show as a major cause of death?
1. Accidents
- Congenital malformations and chromo abnormalities - falls
accidents become and remain most common cause of death until 14.
malignant neoplasms become a common cause
Why do congenital malformation, which are anatomic defects present at birth, still are among the top causes of death until 14?
they may not be clinically apparaent until years later
In children 5-9, what is the primary cause of death?
How does it change as the child ages?
1. accidents
2. malignant neoplasms
3. congenital malformations
In children 10-14, what is the primary cause of death?
what do we see appear?
- accidents
- malignant neoplasms
3. SUICIDE
congenital malformation drops to number 5
Primary errors of morphogenesis (formation of orans), in which there is an intrinsically abnormal developmental process defines? (inherited
ex.
malformations
ex. cyclopsia
External event (secondary destuction) that affects an already well-developed organ.
Is it inherited?
Ex.
Disruption; not inherited
Ex. Amniotic band: rupture of amnion d/t “bands” that encircle, compress, or attach to parts of developing fetus
localized or generalized compression of the gorowing fetus by abnormal biochemical force.
“abnormal biomechanical forces”
deformations
Ex. endometrial tumors
What is the most common underlying factor for the development of deformations in newborns?
Example of common deformation seen in Potter sequence?
- Uterine constraint:size of fetus gets bigger than growth of uterus (35th-38th week)
- Deformations are caused by abnormal biomechanical forces
- Club feet is deformation seen in Potter sequence
What is a squence?
cascade of anomalies triggered by 1 irritating event.
What is the classic example of a sequence?
Due to what and what abnormalities are produced?
(Potter) sequence
[amnoitic leak, renal agenesis/other]=> Decreased amniotic fluid (oligohydromnois]–> fetal compression=>
- flattened facies
- positional abnormalities of hands and feet;
- dislocated hips;
- hypoplastic lungs; al
- so seen in amnion nodous
in potter sequence, what is the initiating aberration?
oligohydromias
What is often seen in Potters squence?
NODULES IN THE AMOIN
Malformations, disruptions, or deformations that set into motion secondary effects in other organs is known as?
sequence
are disruptions assx with a risk of recurrence in next pregnancies?
no bc not heritable
Differentiate agenesis from aplasia
-
Agenesis: complete absence of an organ AND is associate primordium.
- no primoridium => no organ
- Aplasia: organ fails to grow from the EXISTING primordium.
- primordium => no organ
what is atresia?
absence of a opening
________, __________, _________ are the 3 major categories of congenital abnormalities in humans.
- 1. Genetic factors
- 2. environmental
- 3. multifactorial (20-25%
What are the 2 most common genetic problems we see in congennital abnormalities and %
1. Chromosomal aberration (10-15%)
- Mendelian inheritance (2-10%)
what are the most common causes of environemtal causes of congenital aanomliaes?
- Maternal and placenta linfection (2-3%
- Maternal disease states (6-8)
3 drugs /chemical (1)
- irradiation (1)
______ is a major teratogen used in the treatment of acne.
retanoic acid
thalidomide caues
limb malformations
alochol during preg caues
FAS => growth retardation, microcephy, ASD, short palpebral fissures and maxillary hypoplasia
maternal smoking does what
low birth rate
increase risk of SIDS
many ofcongenital anomalies that cannot be explained on the basis of a single, localized, initiating defect
Malformation syndrome
what is an example of a malformation syndrome?
diabetic embryopathy
What causes sudden infant death syndrome?
– no explanation even after autosopy
- Most common microbes to cause congenital abnormalities during development
TORCH
toxoplasmosis, other, rubella, CMV, herpes/IVX
What are the 2 general principles of developmental pathology?
- TIMING of teratogen IMPORTANT
- Terotogens and genetic defects can act on the SAME developmental pathways nad result in SIMILAR anomomlies
a. _____ (inhibits _____) and _____ mutations → holoprosencephaly
b. _____ (inhibits ____) and ____ mutations → limb/vert/craniofacial issues
c. Excessive______ (____ deregulation) and ____ mutations → cleft lip/palate
a. Cycopamine (inhibits hedgehog) and hedghog mutations → holoprosencephaly
b. valproix acid (inhibits HOX) and HOX mutations → limb/vert/craniofacial issues
c. Excessive retanoid acid (TGF-B deregulation) and TGFB-3 mutations → cleft lip/palate
Major morphological abnormalities occur during which weeks of embryonic development?
Between which weeks is the embryo extremely susceptible to teratogenesis?
Peak sensitivity when?
3-8 wk
3-9 wks
4-5 wks
Teratogens during the 4/5 weeks of gestation affect every body system except for the _______________ which begin to develop later
teeth
palate
genitalis
prematurity is when
2nd most common cause of?
Less than 37 weeks
neonatal mortality (1-4 weeks)
Infants born to mothers treated with retinoic acid for severe acne have which predictable phenotype (retinoic acid embryopathy)?
CNS
Cardiac
craniofascial defects (cleft lip and palate
The craniofacial defects (cleft lip and palate) which result from retinoid acid embryopathy are a result of?
the TGF-B signaling pathway
What are the 4 risk factors associated with prematurity?
1) PPROM (before 37 weeks = most serious)
- premature-preterm-rupture of member
2) Intrauterine infections (major cause)
3) Structural abnormalities (uterine, placental, and cervical)
4) Multiple gestations (twin pregnancy)
