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
facts about autism
onset by 3 yo 1:100 prevalence 3-4:1 (M:F)
26
features of autism
impaired social, language, and behavior
27
screening for autism
ADOS-done by trained practitioner , MCHAT-done by parent in office
28
Dx of autism
1. qualitative impairments in social interaction and communication 2. restrictive, repetitive, stereotypical behaviors/interests/activities
29
considerations for Tx of autism
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)
30
fetal cord length equals ..
spinal column length - differential growth puts conus medullaris at ~L1
31
tethered cord definition
a thickened filum terminale anchors the conus medullaris at L2 or below
32
MAJORITY of pt with tethered cord have ..
some overlying skin malformation like hair tuft, lipoma, dermal pit
33
complications of tethered cord
asymmetric foot/leg growth, bladder abnormalities, scoliosis
34
Tx of tethered cord
surgical and monitor for abnls
35
neural tube defects ( NTD) definition
failure of neural tube to close btw 3rd/4th week of gestation
36
what account for MOST congenital anomalies of CNS
neural tube defects (NTD)
37
causes of neural tube defects (NTD)
- multifactorial - malnutrition or genetic causes (folate,zinc) - radiation, drugs, environment
38
Dx of neural tube defects (NTD)
- AFP @16-18 weeks of gestation (increased) | - ultrasound (more severe defects)
39
Tx of neural tube defects(NTD)
PREVENTION (folic acid during preg) | Education (parents w/ one affected child have 20-40 times more likely to have 2nd affected child)
40
two types of cleft lip/palate
cleft palate ( higher risk of other congenital malformation), cleft lip w/ or w/o palate (MALE predominance)
41
haberman nipple
to be used for cleft palate pt due to feeding difficulties
42
tx of cleft palate
surgery
43
prognosis of cleft palate
may have speech difficulties, feeding difficulties, frequent otitis media, dental health
44
fair hair, light skin, near sighted, lanky with long fingers, exaggerated curve of thoracolumbar spine when forward bending
homocystinuria
45
marfan synd. definition
genetic mutation for connective tissue protein
46
marfan synd. inheritance pattern
autosomal dominant
47
gene defect in Marfan synd?
fibrillin on chromosome 15
48
Marfan cardiac complication
aortic dissection-primary dilation aortic rupture risk mitral valve prolapse
49
marfan musuloskeletal
tall, thin, abnormal upper body:lower body ratio, scoliosis, pectus deformity,hypermobile joints
50
marfan ophthalmologic
myopia, lens dislocation (upward) vs. homocystinuria
51
marfan management
manage underlying condition, serial echo
52
Prader-willi syndrome (PWS) definition
central growth hormone deficiency w/o defined MRI findings | genetic imprinting and uniparental disomy
53
PWS clinical signs
REMEMBER CENTRAL GH DEFICIENCY | infant w/ hypotonia (FTT), then hyperphagia and wt gain, small hands/feet, hypogonadism, developmental delay
54
micropenis a/w?
PWS
55
central GH deficiency a/w?
PWS
56
tx of PWS
limited: replace GH, diet/activity, school/therapies, monitor for complications
57
aneuploidies
chromosomes w/ any number other than 46
58
tall, thin, mild-mod gynecomastia, mid-puberty, lack gonadal development
klinefelter syndrome (47, XXY)
59
clinical presentation of Klinefelter
post pubertal: | hypergonadotropic hypogonadism, mild MR, gynecomastia, long limbs, low testosterone, elevated FSH
60
absent Wolffian and Mellerian internal structure a/w ?
klinefelter
61
tx of klinefelter
testosterone replacement
62
risk a/w klinefelter
AML
63
Turner syndrome
45 X, loss of one X chromosome, most common are mosaics 45X/46XX
64
turner pt have higher risk for ?
x-linked recessive disorders such as hemophilia A/B , higher risk for MALES due to single x
65
in utero mortality for turner syndrome due to?
generalized edema and cystic hygroma
66
clinical presentation of turner synd.
short sature, gonadal agenesis, lymphedema in infants, low hairline, webbed neck, shield chest, hypothyroid, hearing loss, cardiac (AS, coarctation, HTN) horseshoe kidney
67
primary amneorrhea in adolescent female a/w ?
turner (they still can get pregnant)
68
coarctation/aortic dissection a/w ?
turner
69
swollen feet common in infants w/ ?
turner
70
webbed neck and shield chest a/w?
turner
71
horseshoe kidney a/w?
turner
72
tx of turner?
estrogen and cyclic progesterone therapy to stimulate puberty, monitor for gonadal malignancy
73
trisomy 13
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
trisomy 18
SGA, narrow bifrontal diameter, short sternum, overlapping fingers, rocker-bottom feet, hypoplastic nails, CHD, only 5% alive at 1yr
75
most common CHD a/w trisomy 13?
VSD
76
most common CHD a/w trisomy 18?
VSD & PDA
77
trisomy 21
nondisjunction during maternal meiosis=~90%
78
trisomy 21 clinical presentation
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
trisomy 21 bowel abnls
TEF, celiac dz, duodenal atresia, duodenal web, annular pancreas, hirschsprung's dz
80
CHD a/w trisomy 21
present in ~60%, AV canal defect: endocardial cushion defect , VSD,ASD,PDA,TOF
81
management of trisomy 21
care and monitoring for complications, family and pt support
82
fragile x
x-linked recessive, higher in male, Lyon hypothesis in females, never father to son, father to 100% daughters, 90% are new mutation
83
clinical presentation of fragile x
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
most common reason for MR in males
fragile x
85
5% of children with autism
fragile x
86
CHD a/w fragile x
mitral valve prolapse
87
management of fragile x
CGG repeat FMR1, echo, MRI , eval for seizures, hypotonia, GER/poor feeding
88
duchenne muscular dystrophy( DMD)
x linked recessive, progressive symmetric myopathy, most common hereditary neuromuscular dz, loss of ambulation by 12 yo
89
progressive symmetric myopathy
DMD
90
most common hereditary neuromuscular dz
DMD
91
Gower's sign a/w
DMD (fully expressed by 5-6 yrs old)
92
clinical manifestation of DMD
scoliosis, cardiomyopathy, pulmonary (poor reserve and possible weak cough), incontinence, lower IQ
93
Dx criteria of DMD
pseudo-hypertroph of calves, wasting of thigh muscles, gower's sign, elevated CK, genetic testing for dystrophin gene, muscle biopsy
94
Diagnostic test for DMD
muscle biopsy
95
management of DMD
monitor cardiac, nerve conduction velocities wnl, tx w/ corticosteroids, supportive care (PT/OT), death by 18 yo