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RLE (2) > PF- NEWBORN SCREENING > Flashcards

PF- NEWBORN SCREENING Flashcards

1
Q

What is the RA for newborn screening

A

r.a 9288

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2
Q

RA 9288 is also known as

A

known as Newborn Screening Act of 2004

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3
Q

what is newborn screening

A

Process of collecting a few drops of blood from the newborn onto an appropriate collection
card and performing biochemical testing to determine of the newborn has a heritable
condition

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4
Q

promulgating a comprehensive policy and a national system for ensuring Newborn Screening, known as Newborn Screening Act of 2004

A

R.A 9288

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5
Q

when is newborn screening performed

A

after 24hrs of life not later than 3 days from complete delivery of the newborn

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6
Q

what are the six disorders newborn screening is used to detect

A
  • Congenital Hypothyroidism
  • Congenital Adrenal Hyperplasia (CAH)
  • Phenylketonuria
  • Glucose-6-Phosphate Dehydrogenase Deficiency
    (G6PD)
  • Galactosemia (GAL)
  • Maple Syrup Urine Disease (MSUD)
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7
Q

previously known deficiency of
thyroid hormone in newborns.

A

Congenital hypothyroidism,

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8
Q

It causes impaired neurological function, stunted growth, and physical deformities.

A

congenital hypothyroidism

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9
Q

what are the two main possible causes of congenital hypothyroidism

A
  • problem with the baby’s thyroid gland
  • lack of iodine in the mother’s body during pregnancy
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10
Q

specific causes for congenital hypothyroidism

A

-missing, poor form, abnormally small thyroid gland
-genetic defect affecting the production of thyroid hormone production
- little iodine in mother’s diet during pregnancy
-radioactive/antithyroid treatment for thyroid cancer during pregnancy
- medicine that disrupt thyroid hormone production- antithyroid, sulfonamides, lithium

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11
Q

a pregnant mother is diagnosed with thyroid cancer and is prescribed antithyroid treatment, what possible condition can the newborn experience?

a. congenital adrenal hyperplasia
b. congenital hypothyroidism
c. phenylketonuria

A

b. congenital hypothyroidism

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12
Q

a child with congenital hypothyroidism can experience mental retardation if not treated, how many IQ points do they decrease and for how long

A

A child’s IQ can drop several points 1 every
few months that treatment is delayed.

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13
Q

what are the complications that come with congenital hypothyroidism?

A

-abnormal walk
- muscle spasticity
- inability to speak
- autistic behavior
- vision and hearing problems
-problem with memory and attention

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14
Q

in a specific developing country, pregnant women have been seen to be commonly deficient in iodine. What can this be an indication for the newborn?

A

congenital hypothyroidism

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15
Q

who recommends the RDA

A

INSTITUTE OF MEDICINE

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16
Q

WHAT DOES RDA STAND FOR

A

RECOMMENDED DIETARY ALLOWANCE,

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17
Q

According to the institute of medicine, what is the RDA for iodine?

A

150 micrograms per day-
1 tsp of salt= 400 mcg

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18
Q

what are the signs and symptoms of congenital hypothyroidism

A
  • lack of weight gain
  • stunted growth
  • abnormal bone growth
  • thickened facial features
  • hoarse voice
  • floppy, low muscle tone
  • jaundice, excessive sleep, poor feeding, very little crying
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19
Q

this is described as walnut-sized organ above the kidney

A

adrenal glands

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20
Q

refers to a group of genetic disorders that affect the adrenal glands, a pair of walnut-sized organs above the kidneys.

A

congenital adrenal hyperplasia (CAH)

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21
Q

what are the three important hormones the adrenal gland produces?

A

cortisol
mineralocorticoids
androgens

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22
Q

this hormone g: Regulating your body’s stress response. Helping control your body’s use of fats, proteins and carbohydrates, or your metabolism

A

cortisol

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23
Q

these are a class of steroid hormones that regulate salt and water balances.

A

Mineralocorticoids

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24
Q

these are crucial for male sexual and reproductive function. They are also responsible for the development of secondary sexual characteristics in men, including facial and body hair growth and voice change. Androgens also affect bone and muscle development and metabolism.

A

androgen

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25
Q

what are the two major types of CAH

A

classic CAH- rare, detected in infancy, salt-losing form 2/3, simple-virilizing form 1/3

NONCLASSIC CAH- milder, more common, not evident until childhood or early adulthood

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26
Q

a female infant is seen to have two genitalia of an opposing sex, what is this called and it is an indication of what disorder?

A

ambiguous genitalia, indicates nonclassic CAH.
in which the clitoris is enlarged or
the genitals look more like those of a male
child.

27
Q

a child who is said to have classic CAH has genitals that appear in what way?

A

normal appearing genitals.

28
Q

when the body experiences very low levels of cortisol

A

adrenal crisis

29
Q

what are the signs and symptoms of classic CAH in children and adults

A

Appearance of pubic hair at a very early age
Rapid growth during childhood, but shorter
than average final height

30
Q

an adult patient shares that they experienced rapid growth during childhood but complain that they are shorter than average final height, this can be an indication of what disorder?

A

CLASSIC CAH

31
Q

TRUE OR FALSE: nonclassic CAH does not cause adrenal crisis

A

TRUE only CLASSIC CAH causes adrenal crisis

32
Q

what do both types of CAH possibly cause in both males and females?

A

both may also experience fertility problems

33
Q

this is a rare condition that causes an amino acid called ___ to build up in the body

A

phenylketonuria- phenylalanine

34
Q

what is PKU caused by?

A

a defect in the gene that creates phenylalanine hydroxylase

35
Q

what is the enzyme used to convert phenylalanine into tyrosine needed to create neurotransmitters like epinephrine, norepinephrine, and dopamine

A

phenylalanine hydroxylase

36
Q

what are the signs and symptoms of phenylketonuria

A

Seizures

tremors

stunted growth
hyperactivity

a musty odor of their breath,

37
Q

how do we treat someone who is diagnosed with phenylketonuria

A

EAT SPECIAL DIETS limiting foods containing phenylalanine (most protein sources)
eggs
cheese
nuts
milk
beans
chicken
beef
pork
fish

38
Q

is an inherited condition. It is when the
body doesn’t have enough of an enzyme. This enzyme helps red blood cells work properly.

A

G6PD deficiency- gluose-6-phosphate degydrogenase deficienct

39
Q

lack of g6pd enzyme can cause

A

hemolytic anemia (rbc are destroyed faster than the are made) hemolysis- destruction of rbc

40
Q

in G6PD who is the carrier and who is deficient

A

women carry one copy of the gene and pass it down to children. Men get the gene and have G6PD deficiency. Women often don’t have symptoms

41
Q

G6PD signs and symptoms

A

Pale skin
Yellowing of skin, eyes, and mouth
Dark-colored urine
Fever
Weakness
Dizziness
Confusion
Trouble with physical activity
Enlarged spleen and liver
Increased heart rate

42
Q

how do we treat glucose-6-phosphate-dehydrogenase deficiency

A

-avoid certain medicine, food, environmental exposure
- tell providers you have it
- check with provider before taking medication

severe form of the deficiency- g6pd

43
Q

upon check up a male patient is seen to have an enlarged spleen, jaundice, and a fever what could this indicated

A

glucose-6-phosphate dehydrogenase deficiency

44
Q

rare metabolic condition that prevents them from processing galactose and turning it into energy.

A

GALACTOSEMIA

45
Q

having too much galactose in the blood. The
buildup of galactose can lead to serious complications and health problems.

A

Galactosemia

46
Q

when does the symptoms of galactosemia appear?

A

appear days or weeks after delivery.

47
Q

SS of GALACTOSEMIA

A

loss of appetite
vomiting
jaundice
liver enlargement
liver damage
fluid building up in abdomen and swelling
abnormal bleeding
diarrhea
irritability
fatigue or lethargy
weight loss
weakness

48
Q

COMMON COMPLICATIONS of galactosemia

A

liver damage or liver failure
serious bacterial infections
sepsis
shock
delayed development
cataract
speech problems
fine motor difficulties
low bone mineral density
premature ovarian insufficiency

49
Q

what is the treatment for galactosemia?

A

The most common treatment for galactosemia is a low-galactose diet.

To follow a low-galactose diet, avoid foods with lactose are the dairy products

50
Q

is an inherited disorder in which the body is unable to process certain protein building blocks properly. The condition gets its name from the distinctive sweet odor of affected infants’ urine.

A

Maple syrup urine disease (MSUD)

51
Q

how is MSUD characterized?

A

poor feeding, vomiting, lethargy,
abnormal movements, and delayed development

52
Q

MSUD can be classified into three

A

classic(severe), intermediate, intermittent (mild)

53
Q

MSUD Signs and symptoms

A

Lethargy
Poor appetite
Weight loss
weak sucking ability
irritability
a distinctive maple sugar color in
earwax, sweat, and urine
irregular sleep pattern
high-pitched cry

54
Q

Signs of intermediate and thiamine-
response MSUD include:

A

seizure
neurological deficiencies
developmental delay
feeding problem

55
Q

complications of MSUD caused by an increase of?

A

Intense increase of BCAAs in the system
Extreme fatigue or lethargy
Loss of alertness
Irritability
Vomiting

56
Q

MSUD untreated, the following severe
complications can occur:

A

Swelling of the brain
Lack of blood flow to the brain
Metabolic acidosis
Coma

57
Q

When these conditions occur, they
can result in: msud

A

Severe neurological damage
Intellectual disability
Blindness
Spasticity

58
Q

What if newborn screening is not done?

A
  • brain damage
  • developmental and physiological delays, breathing problems and even death
59
Q

The mother should coordinate with the baby’s healthcare practitioner to make an appointment with a specialist for the follow-up testing if the
baby failed one of the newborn screenings.

A

yes

60
Q

what is the method used for newborn screening?

A

heel prick method

61
Q

when performing a newborn screening what should you remember before filling the card

A

the first drop of blood should be wiped off, to fill the circles completely and be as clean as possible, no going back and forth once you’ve filled a circle

62
Q

how many mL is taken for newborn screening

A

2.5mL

63
Q

every how many days does the RBC DIE AND GO TO THE SPLEEN

A

120 days

64
Q

uncontrolled muscle tightness

A

SPASTICITY

RLE (2) (7 decks)

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