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Pediatrics > Lecture 6: Congenital Disorders > Flashcards

Lecture 6: Congenital Disorders Flashcards

1
Q

What is neonatal abstinence syndrome (NAS)?

A
  • Maternal use of addictive substances while pregnant
  • Fetus is born with S/S of withdrawal from that substance, as they get used to it.

Common with opioids

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2
Q

How do we screen for maternal substance use?

A
  • If initial prenatal visit is sus, screen every trimester.
  • Ask
  • Determine route
  • UDS is often used
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3
Q

How does anticonvulsant maternal use present?

A
  • Small head
  • Anteverted nares
  • Cleft lip/palate
  • Distal digital hypoplasia (phenytoin)
  • Spina bifida (VPA)
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4
Q

How does retinoid/accutane maternal use present?

A
  • Developmental toxicity
  • CNS malformations
  • CHD
  • TEF (tracheoesophagus fistula)
  • Small/absent ears
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5
Q

How does SSRI maternal use present?

A
  • irritability/seizure
  • Agitation, tremor, hypertonia
  • Increased respirations, nasal congestion
  • D/V, feeding difficulty
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6
Q

S/S of FAS (fetal alcohol syndrome)

> 3oz daily

A
  • Short
  • Poor head growth
  • Developmental delay
  • Midface hypoplasia
  • Poorly developed philtrum, thin upper lip, narrow palpebral fissures, short nose, anteverted nostrils
  • Cardiac anomalies, NTD, genital abnormalities
  • Neurobehavioral issues
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7
Q

How does Marijuana maternal use present?

A
  • Increased risk of depression
  • Hyperactivity, impulsivity, inattention, delinquency

ADHD symptoms

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8
Q

How does opiate maternal use present?

A
  • Withdrawal
  • LBW
  • Prematurity
  • IUGR
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9
Q

Why does benzo/barb maternal use take longer to present with withdrawal symptoms?

A

Long half-life, taking up to 2 weeks.

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10
Q

S/Sx of NAS

A
  • High-pitched cry
  • Jittery
  • Tremors
  • Convulsions
  • Sweating/fever
  • Mottling
  • Excessive sucking/rooting
  • Poor feeding
  • V/D
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11
Q

When is NAS scored?

A

2 hrs after birth/admission

If over 8, do q2h

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12
Q

Pharmacologic tx for NAS

A
  1. Morphine or methadone (First-line)
  2. Phenobarbital to prevent seizure
  3. Fentanyl for analgesia
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13
Q

What are the live vaccines that cannot be taken during pregnancy?

A
  • Flumist IN
  • MMR
  • Varicella
  • HPV (under study)
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14
Q

What are the aneuploidies seen in pregnancy?

A
  • Trisomies 13, 18, 21 (not inherited)
  • Klinefelter (XXY)
  • Turner (45 XO)
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15
Q

What are the two primary congenital autosomal dominant syndromes?

A
  • Marfan’s
  • Achondroplasia dwarfism
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16
Q

What are the congenital autosomal recessive disorders?

A
  • CF
  • PKU
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17
Q

What is the main congenital X-linked recessive disorder?

A

Fragile X syndrome

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18
Q

What screening blood tests are used to screen for aneuploidy?

A

Quadruple screening: beta-hCG, AFP, Inhibin A, estriol

Predictor

ACOG recommends all women should be offered early in pregnancy.

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19
Q

What diagnostic studies can check for aneuploidy?

A
  • Choroid villus sampling (CVS)
  • Amniocentesis

CVS can be done earlier than amnio

ACOG recommends this option be offered also in place of blood tests regardless of age.

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20
Q

MC aneuploidy

A

Trisomy 21, Down syndrome

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21
Q

S/Sx of trisomy 21

A
  • Normal birth wt
  • Hypotonia
  • Flattened occiput, nasal bridge
  • Upslanting of palpebral fissures, epicanthal folds
  • Large, protruding tongue
  • Single palmar crease
  • Cognitive delay
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22
Q

What are trisomy 21 babies more at risk for?

A
  • CHD
  • Thyroid
  • GI anomalies (celiac)
  • Polycythemia
  • Leukemia
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23
Q

How does a quad screen present for a trisomy 21 baby?

A
  • AFP is low in half of all trisomies
  • Unconjugated estriol (low)
  • Elevated inhibin A
  • Elevated hCG

HIgh is high! (hCG and Inhibin A are high)

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24
Q

At what maternal age does trisomy 21 risk greatly increase?

A

Past age 35

25
Q

Who is trisomy 18 MC in?

A

Females

Edward’s syndrome

26
Q

What are the S/S of trisomy 18/Edward’s syndrome

A
  • 95% have cardiac defects
  • clenched fists
  • LBW
  • Kidney
  • Rounded feet
  • Small

Very poor prognosis, most die by age 1

27
Q

What characterizes trisomy 13/Patau’s syndrome?

A
  • Abnormality in every organ system
  • Failure to thrive
  • Cutis aplasia (missing section of skin on skull)
28
Q

What is the MC genetic cause of hypogonadism and infertility in men?

A

Klinefelter syndrome (XXY)

29
Q

How does Klinefelter syndrome present?

A
  • Gynecomastia
  • Tall thin
  • Normal pubic hair but gonadal dysgenesis
  • Normal to low IQ
  • Usually infertile

Infantile testicular volume is usually when it is suspected

30
Q

How is Klinefelter syndrome treated?

A

TRT

31
Q

How does turner syndrome present?

A
  • Low-set malformed ears, flattened nasal bridge
  • Triangle facies
  • Webbed neck
  • Shield chest
  • Aortic valve defects, coarc
  • Horseshoe kidney
  • Short
  • Infertile

Extremely high rate of miscarriage

32
Q

Why is pregnancy dangerous for someone with turner syndrome?

A

High chance of aortic dissection due to high risk of coarctation

33
Q

Tx for Turner’s syndrome

A
  • Estrogen therapy
  • Growth hormone
  • Counseling
34
Q

How is Marfan’s inherited?

A

Autosomal dominant

Fibrillin 1 gene mutation

35
Q

What are the S/Sx of Marfan’s?

A
  • Cardiac: dilation of aortic root, dysrhythmias
  • Tall and thin
  • Pectus excavatum/carinatum
  • Scolioisis
  • Pes planus (flat footed)
  • Joint laxity
  • Dislocated lens
  • Cataracts
  • Down-slant palpebral fissures
36
Q

What criteria is used to calculate a marfan score?

A

Ghent criteria

I think >= 7 means systemic

37
Q

Tx for Marfan’s

A
  • Serial ECHOs
  • BBs to prevent aortic dissection growth to 5.5cm
  • Losartan
  • Frequent eye exams
  • Restriction of strenuous exercise
38
Q

What is the MC inherited cause of cognitive disability in males?

A

Fragile X syndrome

FMR1 gene

39
Q

How does Fragile X/FRAX syndrome present?

A
  • Intellectual disabilities
  • Oblong face with large ears
  • Large testis
  • Hyperextensible joints
  • MVP

Big balls small brain

40
Q

Tx for FRAX

A
  • Genetic counseling
  • Behavioral therapy
  • Psych, developmental specialists

No pharmacologics

41
Q

How is Cystic fibrosis inherited?

A

Autosomal recessive mutation on Chromosome 7 CFTR

Primarily caucasians

42
Q

What occurs in CF?

A
  1. Inability to move Na and Cl properly
  2. Mucus is much stickier and thicker, causing impaired permeability and clearance
  3. Chronic and progressive
  4. Increased salt content in sweat glands
43
Q

Complications of CF

A
  • Rhinitis
  • High susceptibility to respiratory infections
  • Ileus, volvulus, intussusception
  • Infertility
  • Digital clubbing
44
Q

Why is colonization of the airway so common in CF?

A

Inability to clear lungs due to their mucus, so they retain pathogens indefinitely.

MRSA and pseudomonas are especially dangerous to them.

45
Q

How is CF confirmed?

A
  • After newborns screening, positive sweat chloride test using pilocarpine
  • Fecal elastase to measure pancreatic insufficiency

Pilocarpine makes you salivate

46
Q

Tx for CF

A
  • Pulmonology
  • ID
  • Genetics
  • Pancreatic enzyme replacement therapy (PERT)
  • ABX therapy
  • Lung transplant
47
Q

How is PKU inherited?

A

Autosomal recessive metabolic disease

48
Q

What do PKU kids have to avoid?

A
  • Anything with phenylalanine
  • Have to go on a protein-restricted diet
  • Avoid aspartame as well
49
Q

When does cleft lip/palate occur physiologically?

A

Weeks 3-8

50
Q

When is cleft palate diagnosed?

A

U/S on 2nd trimester

51
Q

How is cleft palate prevented?

A

Folic acid and multivitamins

Hopefully

52
Q

When can surgery be done for cleft lip and palate?

A
  • Lip: 12m
  • Palate: 18m
53
Q

Where is the gene for DMD located?

Duchenne Muscular Dystrophy

A

DMD gene on X chromosome

Cannot make dystrophin at all.

X-linked recessive

54
Q

S/S of Duchenne MD

A
  • Proximal muscle weakness
  • Serum CK is markedly elevated
  • Calf hypertrophy due to increased fat.
  • Pointing of toes
  • Gowers sign (use hands to get up, rather than feet)
55
Q

Prognosis and tx of DMD

A
  • Death in 20s due to respiratory or cardiac failure
  • Tx: corticosteroids to maintain strength
56
Q

What characterizes Ehler’s Danlos Syndrome (EDS)?

A
  • Collagen and CT synthesis and structure
  • Joint hypermobility, cutaneous fragility, hyperextensibility
  • Aortic aneurysms, valvular prolapse, or spontaneous pneumothorax

a CT disorder like Marfans

57
Q

How is joint hypermobility scored?

A

Beighton scoring system

  1. Pinkies
  2. Thumbs
  3. Knees
  4. Elbows
  5. Spine

Max of 9

58
Q

What is brighton criteria?

A

Uses beighton score + S/S

Pediatrics (41 decks)

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