Childhood Diseases I

Question 1

What is the number 1 cause of death in children

Answer 1

Congenital anomalies!

Question 2

What is the incidence of congenital anomalies?

Answer 2

1/33 babies.

Question 3

List the top 5 most common congenital malformations?

Answer 3

Clubfoot 25.7%
Patent ductus arteriosus 16.9
Ventricular septal defect
Cleft Lip
Rectal and intestinal atresia (3.4%)

Question 4

What is the incidence of down syndrome pt?

Answer 4

1/700

Question 5

What is the most common chromosomal disorder in the US and the first leading reason for mental retardation?

Answer 5

Down syndrome

Question 6

Down syndrome patients have a 10 to 20 times higher chance of what defect?

Answer 6

ALL and AML
Leukemia
Most commonly is acute megakaryoblastic leukemia (AML)

Question 7

Nearly all down syndrome patients will develop this defect when over 40 years old.

Answer 7

Alzheimers Disease

And thyroid autoimmunity.

Question 8

What is the most common karyotype of downsyndrome?

Answer 8

Trisomy 21

“Maternal age influence - meiotic nondijunction in the ovum”

Question 9

What is the second most common karyotype of downsyndrome?

Answer 9

Robertsonian translocation type
46 is translocated with 21.
(22;21) end up with extra chromosome 21.

Question 10

How common is Downsyndrome mosaic form?

Answer 10

Least common at 1% having a mixture of cells with 46 and 47 chromosomes.

Question 11

When is the nuchal translucency/ free beta/PAPPA screen ran?

Answer 11

10-13.5 weeks

Question 12

What is the incedence for Cystic Fibrosis?

Answer 12

1/2500

Question 13

What type of genetic disease is cystic fibrosis?

Answer 13

Autosomal recessive disease (effects both alleles) causing a chloride channel.

Question 14

What does the mutation of CF cause genetically and on what chromosome?

Answer 14

deletion of three nucleotides coding for phenylalanine at amino acid position 508 on chromosome 7q 31.2

Question 15

What does the APGAR score test?

Answer 15

Color
Heart Rate (100 is 2
Respiration
Reflex
Muscle Tone

Question 16

What apgar score is associated with a 0% chance of child death after birth?

Answer 16

A score larger than 7.

Score of 0-1 has 50% chance at death.
Score of 4 has 20% chance of death.

Question 17

What is the number 2 caise of death in children less than 1 year of age?

Answer 17

Prematurity babies born less than 37 weeks.

Question 18

In the US what is the percentage of babies born prematurely?

Answer 18

12%

Question 19

What is the definition for fetal growth restriction?

Answer 19

Baby fetal weight is below 10th percentile for gestational age determined through ultrasound.

Question 20

What is the most common cause of fetal growth restrictions?

Answer 20

Maternal preclampsia and chronic hypertension as well as maternal thrombophilias.

Question 21

What risks is an infant of a smoking mother at a greater risk for?

Answer 21

Asymmetric with larger head relative to rest o body as well as premature birth.

Question 22

Hypoglycemia, Perinatal asphycia are examples of complications from what?

Answer 22

Premature birth.