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Peds > Special Topics > Flashcards

Special Topics Flashcards

1
Q

failure to thrive is common in

A

children living in poverty and foster care

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2
Q

failure to thrive (FTT) definition

A

malnourished infants who do not meet growth expectations

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3
Q

what are subtypes of FTT?

A

wasted child: wt for ht deficit usually due to an acute etiology
stunted child: ht AND wt deficit but wt for ht is normal for age. usually chronic dz.

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4
Q

dx criteria for FTT

A

wt that falls beneath the 3rd percentile or
wt that remains below the 3rd percentile or
wt that falls, crossing two major percentage lines

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5
Q

what must you identify for FTT?

A

etiology via history and PE esp dietary/feeding hx is critical

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6
Q

important consideration during PE for FTT

A
  • anthropometrics are essential
  • signs/sx of systemic illness
  • syndromic features
  • observe feedings if possible
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7
Q

Lab evaluations for FTT

A
  • avoid shotgun approach (sticking needles)

- consider first line screening : CBC, CMP, FERRITIN, ESR, CRP,UA, TFTS, ttg & serum IgA (celiac dz panel), CXR

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8
Q

management of FTT

A
  1. nutritional intervention for “catch-up” growth : 1.5 x protein and high calorie formula and nutrient-dense component , pay attention to Micronutrient
  2. family management plan
  3. identify medical cause
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9
Q

how is prognosis in FTT

A

see wt gain within weeks-months
monitor for developmental delay/learning delay
depends on underlying cause

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10
Q

child abuse

A

includes physical, emotional and/or sexual abuse and neglect

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11
Q

most common child abuse

A

neglect

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12
Q

recipe for disaster for physical abuse

A

special parent + special child+ crisis => abuse/neglect

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13
Q

red flags for child abuse

A 
history inconsistent with injuries 
delay in seeking tx
repeated accidents
bruising, burns, fractures
head injuries lead to morbidity and mortality
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14
Q

red flags for bruising burns and fractures

A

fractures of ribs, scapula, vertebrae, METHAPHASIS
burns with a uniform pattern, depth
bruising patterns and over specific areas of the body

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15
Q

facts about sexual abuse

A

often chronic
perpetrators aften known to child
demonstrated by aggression, anger, depression
dx often made after child confides in an adult friend/family member

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16
Q

what to avoid when seeing child w/ sexual abuse

A

avoid repetitive interviewing

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17
Q

what to do when suspecting sexual abuse

A

evaluate for vaginal, anal, other GU injury
minor injuries heal quickly
coordinate care with CPS to ensure thorough evaluation
involve police if suspicious or fear for child’s safety

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18
Q

ADHD definition

A

chronic neurobehavioral disorder w/difficulties in at least 1/3 main foci:
1. focusing/sustaining attention 2. inhibiting impulsive behavior 3. regulating activity level

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19
Q

two fact about ADHD

A

1/5th of elementary school children dx

M:F ~3-4:1

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20
Q

ADHD is a/w what disorders

A

Behavioral (ODD,conduct, mood) disorders

Learning (50%)–MOST COMMON

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21
Q

Dx of ADHD criteria

A

sx causing impairment prior to 7-8 yo
sx present in 2 or more settings > 6months
Vanderbilt Questionnaire is helpful
r/o other problems
must have at least 6 specific features (1.inattention, 2.hyperactivity&impulsivity)

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22
Q

goals for Tx of ADHD

A

decrease problematic behavior

improve independence, self esteem, relationships, school performance

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23
Q

how to Tx ADHD

A

behavior management plan for home and school
accommodation-school
medication -effective but side effects
megavitamins and special diets

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24
Q

autism spectrum disorder definition

A

group of developmental disorders w/varying severity (autism, asperger’s, PDD, Rett’s, childhood integrative disorder)

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25
Q

facts about autism

A

onset by 3 yo
1:100 prevalence
3-4:1 (M:F)

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26
Q

features of autism

A

impaired social, language, and behavior

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27
Q

screening for autism

A

ADOS-done by trained practitioner , MCHAT-done by parent in office

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28
Q

Dx of autism

A
  1. qualitative impairments in social interaction and communication 2. restrictive, repetitive, stereotypical behaviors/interests/activities
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29
Q

considerations for Tx of autism

A

goal: as independent as possible , early intervention, tailored to individual (ST/PT/OT, individual and family therapy, school accommodations, medication: PRN for specific situations like anxiety)

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30
Q

fetal cord length equals ..

A

spinal column length - differential growth puts conus medullaris at ~L1

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31
Q

tethered cord definition

A

a thickened filum terminale anchors the conus medullaris at L2 or below

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32
Q

MAJORITY of pt with tethered cord have ..

A

some overlying skin malformation like hair tuft, lipoma, dermal pit

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33
Q

complications of tethered cord

A

asymmetric foot/leg growth, bladder abnormalities, scoliosis

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34
Q

Tx of tethered cord

A

surgical and monitor for abnls

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35
Q

neural tube defects ( NTD) definition

A

failure of neural tube to close btw 3rd/4th week of gestation

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36
Q

what account for MOST congenital anomalies of CNS

A

neural tube defects (NTD)

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37
Q

causes of neural tube defects (NTD)

A
  • multifactorial
  • malnutrition or genetic causes (folate,zinc)
  • radiation, drugs, environment
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38
Q

Dx of neural tube defects (NTD)

A
  • AFP @16-18 weeks of gestation (increased)

- ultrasound (more severe defects)

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39
Q

Tx of neural tube defects(NTD)

A

PREVENTION (folic acid during preg)

Education (parents w/ one affected child have 20-40 times more likely to have 2nd affected child)

40
Q

two types of cleft lip/palate

A

cleft palate ( higher risk of other congenital malformation), cleft lip w/ or w/o palate (MALE predominance)

41
Q

haberman nipple

A

to be used for cleft palate pt due to feeding difficulties

42
Q

tx of cleft palate

43
Q

prognosis of cleft palate

A

may have speech difficulties, feeding difficulties, frequent otitis media, dental health

44
Q

fair hair, light skin, near sighted, lanky with long fingers, exaggerated curve of thoracolumbar spine when forward bending

A

homocystinuria

45
Q

marfan synd. definition

A

genetic mutation for connective tissue protein

46
Q

marfan synd. inheritance pattern

A

autosomal dominant

47
Q

gene defect in Marfan synd?

A

fibrillin on chromosome 15

48
Q

Marfan cardiac complication

A

aortic dissection-primary dilation
aortic rupture risk
mitral valve prolapse

49
Q

marfan musuloskeletal

A

tall, thin, abnormal upper body:lower body ratio, scoliosis, pectus deformity,hypermobile joints

50
Q

marfan ophthalmologic

A

myopia, lens dislocation (upward) vs. homocystinuria

51
Q

marfan management

A

manage underlying condition, serial echo

52
Q

Prader-willi syndrome (PWS) definition

A

central growth hormone deficiency w/o defined MRI findings

genetic imprinting and uniparental disomy

53
Q

PWS clinical signs

A

REMEMBER CENTRAL GH DEFICIENCY

infant w/ hypotonia (FTT), then hyperphagia and wt gain, small hands/feet, hypogonadism, developmental delay

54
Q

micropenis a/w?

55
Q

central GH deficiency a/w?

56
Q

tx of PWS

A

limited: replace GH, diet/activity, school/therapies, monitor for complications

57
Q

aneuploidies

A

chromosomes w/ any number other than 46

58
Q

tall, thin, mild-mod gynecomastia, mid-puberty, lack gonadal development

A

klinefelter syndrome (47, XXY)

59
Q

clinical presentation of Klinefelter

A

post pubertal:

hypergonadotropic hypogonadism, mild MR, gynecomastia, long limbs, low testosterone, elevated FSH

60
Q

absent Wolffian and Mellerian internal structure a/w ?

A

klinefelter

61
Q

tx of klinefelter

A

testosterone replacement

62
Q

risk a/w klinefelter

63
Q

Turner syndrome

A

45 X, loss of one X chromosome, most common are mosaics 45X/46XX

64
Q

turner pt have higher risk for ?

A

x-linked recessive disorders such as hemophilia A/B , higher risk for MALES due to single x

65
Q

in utero mortality for turner syndrome due to?

A

generalized edema and cystic hygroma

66
Q

clinical presentation of turner synd.

A

short sature, gonadal agenesis, lymphedema in infants, low hairline, webbed neck, shield chest, hypothyroid, hearing loss, cardiac (AS, coarctation, HTN) horseshoe kidney

67
Q

primary amneorrhea in adolescent female a/w ?

A

turner (they still can get pregnant)

68
Q

coarctation/aortic dissection a/w ?

69
Q

swollen feet common in infants w/ ?

70
Q

webbed neck and shield chest a/w?

71
Q

horseshoe kidney a/w?

72
Q

tx of turner?

A

estrogen and cyclic progesterone therapy to stimulate puberty, monitor for gonadal malignancy

73
Q

trisomy 13

A

cleft lip and palate (80%) CHD (80%) sloping forehead, scalp defects, micro-ophthalmia, holoprosencephaly, missing ribs, clinodactyly of fingers/toes, polydactyly, renal abnl, omphalocele, die <6mo

74
Q

trisomy 18

A

SGA, narrow bifrontal diameter, short sternum, overlapping fingers, rocker-bottom feet, hypoplastic nails, CHD, only 5% alive at 1yr

75
Q

most common CHD a/w trisomy 13?

76
Q

most common CHD a/w trisomy 18?

77
Q

trisomy 21

A

nondisjunction during maternal meiosis=~90%

78
Q

trisomy 21 clinical presentation

A

short stature, hypotonia, dev. delay, tics, brachycephalic, delayed fontanelle closure, microcephaly, down-slanting palpebral fissures, brushfield spots (speckled iris), joint laxity (atlantoaxial instability), hands/feet: sandal toe, single palmar crease

79
Q

trisomy 21 bowel abnls

A

TEF, celiac dz, duodenal atresia, duodenal web, annular pancreas, hirschsprung’s dz

80
Q

CHD a/w trisomy 21

A

present in ~60%, AV canal defect: endocardial cushion defect , VSD,ASD,PDA,TOF

81
Q

management of trisomy 21

A

care and monitoring for complications, family and pt support

82
Q

fragile x

A

x-linked recessive, higher in male, Lyon hypothesis in females, never father to son, father to 100% daughters, 90% are new mutation

83
Q

clinical presentation of fragile x

A

mental retardation(MR), male: macrocephaly and macro-orchidism, tics, developmental delay (language and motor), autistic bhvr, poor ability to cope w/transitions, hyperactivity, anxiety, tantrums, soft smooth skin, joint laxity, strabismus, mitral valve prolapse

84
Q

most common reason for MR in males

85
Q

5% of children with autism

86
Q

CHD a/w fragile x

A

mitral valve prolapse

87
Q

management of fragile x

A

CGG repeat FMR1, echo, MRI , eval for seizures, hypotonia, GER/poor feeding

88
Q

duchenne muscular dystrophy( DMD)

A

x linked recessive, progressive symmetric myopathy, most common hereditary neuromuscular dz, loss of ambulation by 12 yo

89
Q

progressive symmetric myopathy

90
Q

most common hereditary neuromuscular dz

91
Q

Gower’s sign a/w

A

DMD (fully expressed by 5-6 yrs old)

92
Q

clinical manifestation of DMD

A

scoliosis, cardiomyopathy, pulmonary (poor reserve and possible weak cough), incontinence, lower IQ

93
Q

Dx criteria of DMD

A

pseudo-hypertroph of calves, wasting of thigh muscles, gower’s sign, elevated CK, genetic testing for dystrophin gene, muscle biopsy

94
Q

Diagnostic test for DMD

A

muscle biopsy

95
Q

management of DMD

A

monitor cardiac, nerve conduction velocities wnl, tx w/ corticosteroids, supportive care (PT/OT), death by 18 yo

Peds (8 decks)

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