Special Topics Flashcards

1
Q

failure to thrive is common in

A

children living in poverty and foster care

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

failure to thrive (FTT) definition

A

malnourished infants who do not meet growth expectations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

what must you identify for FTT?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

important consideration during PE for FTT

A
  • anthropometrics are essential
  • signs/sx of systemic illness
  • syndromic features
  • observe feedings if possible
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

how is prognosis in FTT

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

child abuse

A

includes physical, emotional and/or sexual abuse and neglect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

most common child abuse

A

neglect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

recipe for disaster for physical abuse

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

what to avoid when seeing child w/ sexual abuse

A

avoid repetitive interviewing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

two fact about ADHD

A

1/5th of elementary school children dx

M:F ~3-4:1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

ADHD is a/w what disorders

A

Behavioral (ODD,conduct, mood) disorders

Learning (50%)–MOST COMMON

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

goals for Tx of ADHD

A

decrease problematic behavior

improve independence, self esteem, relationships, school performance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

autism spectrum disorder definition

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

facts about autism

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

features of autism

A

impaired social, language, and behavior

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

screening for autism

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Dx of autism

A
  1. qualitative impairments in social interaction and communication 2. restrictive, repetitive, stereotypical behaviors/interests/activities
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

fetal cord length equals ..

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

tethered cord definition

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

MAJORITY of pt with tethered cord have ..

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

complications of tethered cord

A

asymmetric foot/leg growth, bladder abnormalities, scoliosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Tx of tethered cord

A

surgical and monitor for abnls

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

neural tube defects ( NTD) definition

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

what account for MOST congenital anomalies of CNS

A

neural tube defects (NTD)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

causes of neural tube defects (NTD)

A
  • multifactorial
  • malnutrition or genetic causes (folate,zinc)
  • radiation, drugs, environment
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Dx of neural tube defects (NTD)

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

- ultrasound (more severe defects)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

A

surgery

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?

A

PWS

55
Q

central GH deficiency a/w?

A

PWS

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

A

AML

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 ?

A

turner

69
Q

swollen feet common in infants w/ ?

A

turner

70
Q

webbed neck and shield chest a/w?

A

turner

71
Q

horseshoe kidney a/w?

A

turner

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?

A

VSD

76
Q

most common CHD a/w trisomy 18?

A

VSD & PDA

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

A

fragile x

85
Q

5% of children with autism

A

fragile x

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

A

DMD

90
Q

most common hereditary neuromuscular dz

A

DMD

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