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Peds I & II > Genetics/Development > Flashcards

Genetics/Development Flashcards

1
Q

Define Newborn

A

<1 month

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2
Q

Define infant

A

2-36 months (3 yrs)

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3
Q

Define Toddler

A

36 months-60 months (5 yrs)

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4
Q

Define Appropriate for Gestational Age

A

BW 10-90th %

2500-4500 grams

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5
Q

Define Large for Gestation Age (LGA)

A

BW >90th %

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6
Q

Define Small for Gestational Age (SGA)

A

BW <10th %

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7
Q

Define Low BW

A

<2500 grams= 5lbs. 8 oz

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8
Q

What % of wt loss will most infants lose by days 3-5? When should they regain this weight back?

A

4-7%

Regain by day 14

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9
Q

BW __ by 6 months of age

A

Doubles

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10
Q

BW__ by 12 months of age

A

Triples

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11
Q

How much weight does an infant gain per day?

A

20-30 grams= 1 oz/day

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12
Q

List the two reasons for Macrocephaly

A
  1. Hydrocephalus: Dandy Walker obstruction

2. Increased ICP

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13
Q

Define Cushing’s Triad

A
  1. Bradycardia
  2. HTN
  3. Irregular breathing

*Increased ICP

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14
Q

What is the MCC of Microcephaly?

A

Toxins= Alcohol (FAS)

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15
Q

If you have ANY language concerns, what should you check?

A

HEARING

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16
Q

List the Syndromes associated with hearing loss

A
  1. Waardenburg Syndrome-“White forelock” (pigmentation problem)
  2. Alport Syndrome: Renal-Hematuria, proteinuria, HTN
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17
Q

At what age do children start using single word vocab?

A

24 months

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18
Q

Onset of Autism?

A

BEFORE 3 years old

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19
Q

What screening test is used in Autism?

A

M-CHAT @ 18, 24, 36 months
Identifies children @ RISK
does NOT provide dx

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20
Q

List the two types of Loss of Joint Attention seen in Autism

A
  1. Proto-Imperative pointing: @12 mos

2. Proto-Declarative pointing: @ 14 mos

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21
Q

What is the MC Genetic Cause of Mental Retardation (MR)?

A

Down syndrome

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22
Q

What is the MC Familial Cause of Mental Retardation (MR)?

A

Fragile X Syndrome

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23
Q

What is the MC Preventable Cause of Mental Retardation (MR)?

A

FAS

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24
Q

Define Night Terrors

A

Non-Rem
Autonomic Stimulation
NOT able to recall episode

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25
Q

Define Nightmares

A

REM sleep

Able to recall episode

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26
Q

At what age do Blue Spells peak? What provokes them?

A

2 years

Provoked situation or upsetting event

27
Q

What type of mutation is Phenylketonuria (PKU)?

A

Enzyme mutation of-Inability to translate Phenylalnine to Tyrosine
Autosomal Recessive

28
Q

PKU si/sx’s

A
  1. Mental Retardation
  2. Fair skin (melanin impairment)
  3. Sz’s
  4. Mousy odor
29
Q

Define Penetrance

A

Probability that individuals in a population who have a particular gene will SHOW the condition

30
Q

Define Expressivity

A

Affected individuals may show varying degrees of phenotypic expression= Severity

31
Q

When do you perform maternal serum screening?

A

2nd trimester: 15-20 wks

32
Q

Define Polyhydraminos

A

> 2 L

33
Q

Polyhydraminos etiology

A
  1. Duodenal atresia
  2. Gastrochisis
  3. Omphalocele
34
Q

What are the complications/effects of Oligohydraminos?

A

Horseshoe kidney

35
Q

Causes for increased AFP levels

A
  1. Anencephaly
  2. Spina Bifida
  3. Abdominal wall defects
36
Q

Causes for decreased AFP levels

A
  1. Trisomy 21-Downs

2. Trisomy 18-Edwards

37
Q

When should you suspect Down Syndrome in an infant?

A

“Floppy baby”-Hypotonia

38
Q

Cardiac findings in Down syndrome?

A

AV Canal

39
Q

GI findings in Down syndrome?

A

Duodenal atresia/stenosis:

  1. Bilious vomiting hrs after birth
  2. “Double bubble” sign on CXR
40
Q

Endocrine findings in Down syndrome?

A

HYPOthyroidism-Screen with TSH!

41
Q

What do you need to make sure you obtain FIRST before releasing a child with down syndrome to participate in sports? Why?

A

Neck X-ray d/t atlantoaxial instability

42
Q

Define Trisomy 18. Features?

A

Edwards Syndrome:

  1. Clenched hand w/ overlapping fingers
  2. Rocker-bottom feet
  3. Poor prognosis
43
Q

Turner syndrome genetic mutation?

A

Monosomy-XO

44
Q

Renal findings in Turner syndrome?Screening test for this?

A

Horseshoe kidney

*Renal US

45
Q

Cardiac findings in Turner syndrome? Screening test for this?

A
  1. Co-arctation of aorta: HTN + Decreased LE pulses
  2. Associate bicuspid aortic valve

*Echocardiogram

46
Q

FISH testing is best used in what disorder?

A

DiGeorge Syndrome

47
Q

When do you do the first screening test in infants?

A

After 24 hrs of life (hospital)

48
Q

When do you do the second screening test in infants?

A

5-14 days post gestation (clinic)

49
Q

Congenital Hypothyroidism newborn si/sx’s

A
  1. Larger posterior fontanelle
  2. Prolonged Jaundice
  3. Macroglossia
  4. Hoarse cry
  5. Umbilical hernia
  6. Constipation
50
Q

Congenital Hypothyroidism childhood si/sx’s

A
  1. Mental retardation

2. Poor growth

51
Q

What screening test do you use in Congenital Adrenal Hyperplasia

A

17-OH Hydroxylase (increased)

52
Q

What is the classic presentation of Congenital Adrenal Hyperplasia in both males and females?

A

Salt Wasting Syndrome: Vomiting, shock, dehydration

  1. Hyperkalemia
  2. Hyponatremia
  3. Hypoglycemia
53
Q

Prader-Willi syndrome genetic mutation

A

Inherited by father: Paternal allele

Deletion of chromosome 15q11-q13

54
Q

Prader-Willi syndrome si/sx’s

A
  1. Obesity*
  2. Hyperphagia
  3. Small hands & feet
  4. Intellectual disability
  5. Infant: Hypotonia, FTT
55
Q

AngelMan Syndrome genetic mutation

A

Inherited by mother (maternal allele)

Deletion of chromosome 15q-q13

56
Q

AngelMan Syndrome si/sx’s

A
  1. “Happy puppet”-Jerky ataxia movements, uncontrollable bouts of laughter
  2. Seizures
  3. Fair hair
  4. Intellectual Disability
57
Q

How do you test/screen for AngelMan Syndrome & Prader-Willi syndrome?

A

FISH probe

58
Q

Define Maple Syrup Urine disease

A

Autosomal Recessive

Deficiency of decarboxylase= Increased LIV products

59
Q

Define Maple Syrup Urine disease si/sx’s

A
  1. Urine & hair smells like syrup

2. CNS: sz’s, lethargy, coma, opisthotonos

60
Q

Maple Syrup Urine disease treatment

A
  1. Dietary restriction of LOV

2. Enzyme replacement

61
Q

Tacyh-Sachs Disease etiology

A

Hexoamindisase A deficiency= Elevated GM2-Ganglioside

62
Q

Who is Tacyh-Sachs Disease MC in?

A

Jews & French Canadians

63
Q

Tacyh-Sachs Disease si/sx’s

A
  1. Blind

2. Clumsy & awkward

64
Q

What is the MC type of Osteogenesis Imperfecta? Si/sx’s?

A

Type 1

  1. Blue sclerae
  2. Brittle bones
  3. DEAFNESS-Hearing tes!

Peds I & II (8 decks)

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