Developmental Assessment & Growth Abnormalities - Exam 2 Flashcards

1
Q

When should developmental assessment take place? Using what resources?

A

should occur at all well child visitis

and use validated screening tools

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2
Q

What is a developmental delay? Are they common or rare?

A

Refers to the circumstance in which a child has not demonstrated a developmental skill (such as walking) by an age at which the vast majority of normally developing children have accomplished this task

pretty common, 18% of kiddos have delays or conditions that place them at risk

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3
Q

What are developmental therapies options for kiddos who have been recognized as having a developmental delay?

A

speech, language, PT, OT, and educational therapy

birth to 3

older than 3, kiddo can receive services through the school

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4
Q

What is the M-CHAT? When is it given? How many parts does it have? What style?

A

Modified CHecklist for Autism in Toddlers

screen toddlers at 18-30 months to assess risk for Autism

2 parts :
20 item: yes/no report questionnaire
and structured f/u questionnaire administered by a health care provider

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5
Q

What should you do if you get an abnormal M-CHAT result?

A

should rescreen the patient again

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6
Q

What is the Denver Developmental Screening Tool? What age range? How many items?

A

screening tool that uses both parent and direct observation to screen function in: personal-social, gross motor, language and fine motor adaptive

Covers children 2 weeks to 6 years

125

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7
Q

The Denver development screen was designed to compare a given ______ with the performance of ______. **What does this allow for?

A

child’s performance

other children the same age

**Subjectively allows clinician to observe and assess child’s overall behavior

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8
Q

How do you properly interpret the Denver development screen? What should you do next?

A

Normal:
no delays and a maximum of one caution

Suspect:
two or more cautions and/or one or more delays

rescreen in one to two weeks

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9
Q

**What are the 6 drawbacks of the Denver screen? Which one is super highlighted?

A
  1. Validity is low
  2. Small sample size of normal (based on a little over 2000 kids)
  3. Does not require an advanced degree

4. Studies show only 50% with developmental needs are identified

  1. Length of time it takes to complete/score
  2. High sensitivity , but low specificity
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10
Q

What are the ages and stages questionnaires? **What 5 areas does it address?

A

19 age-specific surveys asks parents about developmental skills common in daily life
one month to 5.5 years

easily tailored to fit the needs of any family

Language/communication, personal-social, fine motor, gross motor, and problem solving

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11
Q

What do the results of the ages and stages questionnaire help you tell? How many questions in each area?

A

Results help determine if a child is on schedule

6 questions in each area

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12
Q

What is the result cut off for ages and stages? What are the 2 different options you should do next?

A

Cut off is 2 Standard Deviations below the mean

If below cutoff in one or more areas, diagnostic referral indicated

If close to cutoff, provide follow up activities to practice specific skills, then re-screen in 4-6 months, earlier if needed

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13
Q

What is the “Puppy Prop” position?

A

weight supported on forearms with head up

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14
Q

What is the developmental red flag for sitting?

A

Not sitting by 9 months

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15
Q

What is the developmental red flag for Moro reflex?

A

Persistence of Moro (reaction to sudden loss of support) past 6 months

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16
Q

What is the developmental red flag for not walking independently?

A

Not walking independently by 18 months

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17
Q

What is the developmental red flag for hand dominance?

A

Hand dominance before 18 months
early sign of CP i.e. one sided weakness

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18
Q

What is the developmental delays are associated with each other?

A

Often, fine motor delays are coupled with gross motor delays

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19
Q

What is the developmental red flag for babbling, pointing or gesturing?

A

No babbling, pointing, gesturing by 12 months

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20
Q

What is the developmental red flag for single words?

A

No single words by 16 months

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21
Q

What is the developmental red flag for failure of 2/3 words?

A

Failure of 2 word and 3 word sentences by 24 and 36 months respectively

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22
Q

What is the developmental red flag for smile/joyful expressions?

A

Failure to smile or show joyful expressions by 6 months

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23
Q

What does any regression of speech, language or social skills indicate?

A

it is a developmental red flag

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24
Q

**_______is more predictive of cognition and school achievement than any other milestone. What causes are often remediable?

A

Language Development

when delays are caused by lack of stimulation and exposure, or hearing impairments

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25
Q

What does NOT addressing poor language development lead to?

A

Failure to address language impairments snowballs to impact social development and behavior

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26
Q

How much of a 2 year old’s language should a random person be able to understand? 3 year old? 4 year old?

A

2 years, 50%

3 years, 75%

4 years, 100%

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27
Q

The ______ of life are a time of extraordinary physical growth

A

first 5 years

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28
Q

**What is the expected weight gain for a baby by 6 months? **By age 1?

A

Doubles birth weight by 6 months

triples by age 1

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29
Q

When should you check growth chart series percentiles? What 3 things are measured?

A

EVERY WCC

height, weight and head circumference

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30
Q

**What age ranges should you check head circumference? Healthy, well-nourished infants should _____ at a predictable weight

A

Birth-24 months

TREND

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31
Q

How are growth charts measured?

A

measured in percentiles

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32
Q

What does a kid trending in the 25th percentile mean? Where do most kids fall between?

A

25th percentile in stature means 75% of kids have larger stature

Most kids fall between 3rd and 97th percentile

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33
Q

**How should providers view growth charts? ** What does major percentile drops indicate?

A

As providers we look at TRENDS over time!!

**Major percentile drops are red flags

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34
Q

What is a type I growth abnormalities? What is the underlying cause?

A

head circumference is normal and the weight is depressed more than the height

Results from inadequate caloric intake, excessive loss of calories, or inability to use calories peripherally

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35
Q

What type of growth abnormality?

A

type 1

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36
Q

What is a Type II growth abnormality? What are some common underlying causes?

A

normal head circumference

proportionate diminution of height and weight

Associated with genetically short stature, endocrinopathies, constitutional growth delay, heart or renal disease, or various forms of skeletal dysplasias

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37
Q

What is a type III growth abnormalities? What are some underlying causes?

A

All three parameters of growth (head circumference, height, weight) are lower than normal

Associated with central nervous systems abnormalities, chromosomal defects, and in utero or perinatal insults

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38
Q

What type of growth restriction?

A

type III

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39
Q

What is considered a SGA baby?

A

SGA infants have BIRTH weights below the 10th percentile

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40
Q

Infants with intrauterine growth restriction (IUGR) are results of what 4 things?

A

result of poor maternal environment, intrinsic fetal abnormalities, congenital infections, or fetal malnutrition

aka something happened while in mom’s womb

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41
Q

What is the important distinction between growth disturbances?

A

need to know if the growth disturbance is symmetrical or asymmetrical

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42
Q

What is a symmetrical growth abnormality? When in the pregnancy does it usually occur?

A

weight, length, and occipitofrontal circumference all ≤10%

Implies an event of EARLY pregnancy

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43
Q

What are some events in early pregnancy that might cause symmetrical growth abnormalities?

A

chromosomal abnormality, drug or alcohol use, or congenital viral infections (ex: TORCH)

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44
Q

What is an asymmetric growth abnormality? When during pregnancy does the problem occur?

A

only WEIGHT is ≤10%

Asymmetrical growth restriction implies a problem late in pregnancy,

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45
Q

What are some causes of asymmetrical growth restrictions?

A

pregnancy induced hypertension or placental insufficiency

poor weight gain from mom during pregnancy and multiple gestations

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46
Q

**What is the prognosis for asymmetrical growth restriction when compared to symmetrical growth restriction?

A

In general, the outlook for normal growth and development is better in asymmetrically growth-restricted infants whose intrauterine brain growth has been spared

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47
Q

LGA infants are most commonly seen born to _____. And are at increased risk for _______

A

diabetic mother

birth trauma (Erb’s palsy and clavicle fx)

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48
Q

**How do you dx failure to thrive? **Can you make the dx off of one reading?

A

Children who fall below the 3rd percentile on the weight growth curve OR weight for height is <3% OR whose rate of weight gain has declined across 2 major percentiles

**NO!! A single observation of weight in a child is generally insufficient to make any diagnosis

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49
Q

What is safe to dx this kiddo with, based on this growth curve?

A

Failure to thrive

weight is not increasing like it should

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50
Q

** What are the 4 fundamental constituents needed for a kiddo to growth and thrive?

A

Oxygen, substrate (a surface on which an organism grows or is attached), hormones, and love

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51
Q

Oxygen deprivation at the tissue level from causes such as ____, _____, or _____ will result in poor weight gain (FTT)

A

CHF

chronic lung disease

anemia

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52
Q

Inadequate calories, protein, or micronutrients either from ______, ______, or _______ at the tissue level also inhibit normal weight gain and lead to failure to thrive

A

environmental deprivation

malabsorption

inability to metabolize them

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53
Q

What are some regulators of growth that when deficient can lead to failure to thrive?

A

growth hormone
Insulin-like growth factors
glucocorticoids
thyroid hormone

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54
Q

Infants or children severely deprived of _____ will often not grow despite what appears to be normal caloric intake.

A

affection

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55
Q

What are some conditions that lead to deficiency in energy supply (consumption) that can cause FTT?

A

in utero conditions,
formula preparation mistakes
breastfeeding difficulties
parent-child psychosocial dysfunction
maternal depression
intentional abuse
neglect
poverty
chronic vomiting
Structural abnormalities of the oro- or nasopharynx and GI Tract

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56
Q

When evaluating a pt for FTT, what things should be checked during the PE in presence of vitamin, protein, fat and micronutrient deficiencies?

A

Mucous membranes, hair, nails, and skin

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57
Q

mild-to-moderate FTT can be managed by _____ with consultation from _______

A

PCP

dietician and other subspecialist as needed

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58
Q

What are the 3 goals of mild/moderate FTT?

A

must focus on nutritional rehabilitation, parental education, and behavioral intervention

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59
Q

**Attempts to overfeed malnourished infants at the outset should be avoided due to vigorous refeeding may induce _______

A

malabsorption and diarrhea

also called dumping syndrome when the stomach moves food too quickly out and causes diarrhea

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60
Q

What is phase 1 in the typical 3 phase regimen for FTT?

A

phase 1: begins with provision of 100% of daily age-adjusted energy and protein requirements based on the child’s weight on day 1

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61
Q

When can you move on to phase 2 in FTT tx? What happens during phase 2?

A

if phase 1 is well tolerated then you can move on to phase 2

Intake is then increased to provide adequate nutrition to achieve catch-up growth. For example, some use 150 kcal/kg/day, if normal is 100 kcal/kg/day

62
Q

What is phase 3 of FTT tx?

A

a varied diet is offered ad libitum as the child gradually approaches ideal body weight

63
Q

_____ and ______ should be part of every refeeding as part of FTT tx

A

multivitamin and iron supplementation

64
Q

What is considered severe FTT? What should you do next?

A

Children who are less than 60% of ideal body weight for height should be hospitalized

Nutritional rehab will be more prolonged and may entail a period of tube feedings in addition to oral supplements

65
Q

When should you f/u for FTT pts? What 3 evaluation should be incorporated?

A

Initial weekly visits for progress

developmental, behavioral, and social evaluations

66
Q

Disturbances of growth are the most common problem evaluated by _______. Why is it important to identify growth disturbances early?

A

pediatric endocrinologist

Deviations from the norm can be the first or only manifestation of many endocrine disorders

67
Q

_____ is the most critical parameter in evaluation of a child’s growth

A

Height velocity

68
Q

When would a height percentiles increase or decrease warrant further evaluation?

A

between age 2 years and the onset of puberty

69
Q

T/F: From birth to 2 years old, these kiddos have a fairly predictable growth pattern and should maintain this pattern until they are fully grown

A

FALSE

It is more difficult to distinguish normal from abnormal growth in the first two years of life, as infants may have catch-up or catch-down growth during this period

70
Q

height potential is determined by ______. How is the kiddos target height calculated?

A

genetic factors

mean parental height plus 6.5 cm for boys, ( about 2.5 inches )and subtract 6.5 cm for girls

71
Q

_____ or _____ may help determine growth potential

A

skeletal maturation or bone age

72
Q

**How is bone age evaluated?

A

Bone age is evaluated by comparing a radiograph of the child’s left hand and wrist with certain standards (Greulich-Pyle scale)

LEFT hand/wrist

73
Q

What is considered normal percentiles for height?

A

between the 3rd and 97th percentile

74
Q

Pathologic short stature is more likely in children whose growth ______ or who are ______ for their family

A

velocity is abnormal

significantly short

75
Q

What is considered abnormal velocity for height?

A

crossing major height percentiles on the growth curve

76
Q

Children with chronic illness or nutritional deficiencies may have_____ , mostly associated with ______

A

poor linear growth

poor weight gain

aka if the kiddo is short because of illness or nutritional deficiencies they also will have poor weight gain

77
Q

If the patient is short because of endocrine causes, what is their weight more likely to be?

A

normal or excessive weight gain

aka kiddos with endocrine causes of short stature will have normal or excessive weight gain

78
Q

**What is the typical birth weight and length for kiddos with familial short stature?

A

Typically have normal birth weight and length

79
Q

Describe the linear growth velocity pattern during birth - 2 years old for a kiddo with familial short stature (FSS)?

A

First two years of life their linear growth velocity DECELERATES as they near their genetically determined percentile

80
Q

Once the target height percentile of a kiddo with FSS is reached, what happens next? **What percentile range is common for FSS?

A

he child resumes normal linear growth parallel to the growth curve

**This child grows at a normal rate at or below 3rd percentile

aka these kiddos are perfectly healthy and just genetically short people

81
Q

What is the final height category for FSS? **When will they go through puberty?

A

The child grows along his/her own growth percentile and the final height is short but appropriate for the family

**These children have puberty at a normal age

82
Q

The kiddo was born at a birth length in the 50th percentile, however, the length percentile will drift downward during the first 2 years of life and will settle in at the fifth percentile where it will stay.

What am I?

A

Familial short stature

83
Q

What am I?

A

Familiar short stature

84
Q

______ can be seen in kiddos who do NOT necessarily have short parents but have a growth pattern similar to those with familial short stature

A

Constitutional Growth Delay (CGD)

85
Q

Children are healthy and growing below but parallel to the 3rd percentile line, have a normal birth weight.

A

Constitutional Growth Delay (CGD)

86
Q

In Constitutional Growth Delay (CGD), what happens between 6 and 24 months old? What happens from 3 years old and up?

A

inear growth and weight track downward to the 3rd percentile or below

After age 3, children follow their own curve parallel to the low end of the growth chart

87
Q

**What is one of the biggest differences between constitutional growth delay and familial short stature?

A

children with constitutional growth delay have a DELAYED onset of puberty and growth spurt

88
Q

When will a kiddo with constitutional growth delay stop growing? Will they ultimately still the their target height?

A

Growth continues beyond the time the average child stops growing

YES!! final height is approperiate

89
Q

What is the nickname for constitutional growth delay? What will their bone age show?

A

“late bloomers”

same with bone age, it will be delayed

90
Q

What is this growth curve representing?

A

constitutional growth delay

91
Q

What is the pattern of growth hormone secretion? What 3 things make it respond?

A

Growth Hormone is secreted in a pulsatile pattern in response to sleep, exercise, and hypoglycemia

92
Q

How does growth hormone promote growth indirectly?

A

Also promotes growth indirectly by stimulating production of insulin-like growth factors, primarily IGF-1

93
Q

**What is Growth Hormone Deficiency characterized by?

A

GHD is characterized by decreased growth velocity and delayed skeletal maturation in the absence of other explanations

94
Q

What are the 4 difference broad causes of Growth Hormone Deficiency (GHD)? Which on is the MC?

A

congenital
genetic
acquired
idiopathic (Most common)

95
Q

What will infants with GHD look like in terms of height and weight when they are born? What does this suggest?

A

Infants with GHD have normal birth weight with only slightly reduced length

suggesting that GH is a minor contributor to intrauterine growth

96
Q

infants with GHD, may present with ______ due to other associated pituitary deficiencies such as ____ or ______

A

hypoglycemia

hypothyroidism or adrenal insufficiency

97
Q

**_____ may be a feature of newborn males with gonadotropin and GH deficiency

A

Micropenis

98
Q

What is the primary manifestation of idiopathic or acquired GHD?

A

subnormal growth velocity

+/- truncal adiposity (chubby in the middle)

99
Q

Are random samples of GH helpful in determining GHD? Why or why not?

A

NO!! because GH is pulsatile

100
Q

**What 2 lab tests are used as the first step in dx GHD? Why?

A

IGF-1 and IGFBP-3

because they give reasonable estimations of GH secretions

101
Q

If the results of GH tests are ambiguous, what should you do next?

A

a trial of GH treatment can help determine whether an abnormally short child will benefit from GH

102
Q

What is the tx for GHD? **What are the 2 rare but serious SEs?

A

Subcutaneous recombinant GH given 7 days per week

benign intracranial hypertension and slipped capital femoral epiphysis

103
Q

______ is used to treat children with GH resistance or ______

A

Recombinant IGF-1

IGF-1 deficiency

104
Q

If GHD if caught and treated early, can kiddos reach normal adult height?

A

YES!! with early tx and diagnosis, children can reach normal or near normal adult height

105
Q

**What is psychosocial short stature associated with?

A

**emotional deprivation

106
Q

bizarre eating and drinking habits
bowel and bladder incontinence
social withdrawal
delayed speech
short stature

What am I?
What are the GH levels?

A

Psychosocial Short Stature

GH secretion diminished,

107
Q

Does GH replacement help psychosocial short stature?

A

NO! GH replacement is not beneficial

108
Q

What is the tx for psychosocial short stature?

A

Foster home placement or a change in the psychological environment at home usually results in improved growth and normalization of GH secretion, personality, and eating behaviors

109
Q

What is the genetic cause of Prader- Willi syndrome? **What is one of the hallmark features?

A

Chromosomal Disorder of chromosome 15

**Hypotonia at birth

110
Q

Almond shaped eyes
strabismus
short stature
obesity
hypogenitalism
small hands and feet with tapering fingers
deficient GH
short stature

What am I?
What do they often have as an infant?

A

Prader-Willi syndrome

feeding difficulties, including poor suck, which can lead to failure to thrive

111
Q

What 2 things if often present in the early childhood of a kiddo with Prader-Willi?

A

usually have late acquisition of major motor milestones

HYPERPHAGIA

112
Q

What is often present in the late childhood/adolescence of a kiddo with Prader-Willi?

A

Secondary sex characteristics delayed, menarche delayed, other complications of obesity (diabetes, HTN, OSA)

behavioral problems and learning disabilities, compulsive skin picking

113
Q

**______ is noticed when the kiddo with Prader-Willi syndrome is 3-4 years old and is the hallmark of this disorder. How is the dx confirmed? What is the tx?

A

obsessive hyperphagia

genetic testing

GH replacement

114
Q

Webbed neck
triangular facies
short stature
wide set nipples
amenorrhea
absence of secondary sex characteristics

What am I?
What is the underlying cause?
What is the tx?

A

Turner Syndrome

only has 1 X chromosome instead of 2

estrogen and GH replacement

115
Q

What 2 comorbid conditions are associated with Turner syndrome? What is their normal IQ?

A

coarctation of aorta and genitourinary malformations

IQ normal, but learning disabilities are common

116
Q

thick tongue
large fontanels
poor muscle tone
hoarseness
umbilical hernia
jaundice
intellectual delays

What am I?
How is it dx?

A

neonate with hypothyroidism

screened for on the newborn screening

117
Q

Why is thyroid hormone important in kiddos? What will the labs show in hypothyroidism?

A

essential for normal growth and brain development so left untreated can cause mental slowness and impaired physical growth

T4, FT4, and T3 are low, TSH levels elevated in primary hypothyroidism

118
Q

What are most causes of hypothyroidism caused by in kiddos?

A

Most cases caused by hypoplasia or aplasia of thyroid gland or failure of gland to migrate to its normal anatomic location

can also be caused by enzymatic defect in thyroid hormone synthesis

iodine deficiency

119
Q

Even when thyroid gland is completely absent, most newborns with congenital hypothyroidism appear _____ at birth and gain weight _____ for first few months

A

normal

normally

120
Q

How will hypothyroidism in juveniles present? What effect will it have on puberty?

A

short stature and abnormal weight gain

Skin may be dry, scaly, thick, coarse, pale, cool, mottled, or have a yellowish tinge

Hair is dry, brittle, and lateral thinning of eyebrows may occur

puberty may be delayed

121
Q

If newborn screening comes back positive for hypothyroidism, what should you do next? What is the tx of choice?

A

immediately confirm with FT4 and TSH levels

levothyroxine, needs to be started within the first month of life to have a normal neurocognitive outcome

122
Q

What is usually the first manifestation of growth disturbance in children?

A

height

from google: The primary symptom that may indicate a growth problem is when a child grows less than 2 inches a year after his second birthday

123
Q

How will hyperthyroidism present in peds? MC in females or males? **What is the preferred tx in peds?

A

Can present with weight loss (despite increased appetite), nervousness, tachycardia

MC in females

methimazole 1st choice in kids

124
Q

Irritability
IUGR
poor weight gain
flushing
jaundice
hepatosplenomegaly
Hyperthyroidism may develop several days after birth

What am I?
What is the tx?

A

neonatal graves disease

nothing, usually resolves over 1-3 months (because the baby will destroy the antibodies causing excessive TSH stimulation and then be fine)

125
Q

What is considered constitutional tall stature?

A

Child who is taller than his or her peers and is growing at a velocity that is within the normal range for bone age

126
Q

What is growth hormone excess usually caused by? What is the tx?

A

Excessive secretion of GH by somatotroph ADENOMAS causes gigantism in the prepubertal child.

very rare and tx the adenoma

127
Q

What is precocious puberty defined as? What are the 2 types?

A

if onset of secondary sexual characteristics occurs at or before age 8 (can be 7 for African American Girls and Hispanic

central and peripheral

128
Q

What is central precocious puberty a result of?

A

Generally idiopathic, can also be result of CNS abnormality

Activation of GnRH increase in gonadotropin release, increase in sex steroids

129
Q

What is the underlying cause of peripheral precocious puberty?

A

ovarian or adrenal tumors, congenital adrenal hyperplasia, ovarian cysts, McCune-Albright Syndrome, exogenous estrogen

aka something is causes it

130
Q

How can you tell central and normal puberty apart?

A

other than age of pt, events are identical of normal puberty

131
Q

How will peripheral precocious puberty present?

A

Present with markedly elevated estrogen levels and rapidly progressive pubertal changes

132
Q

What are some s/s of precocious puberty? **How tall will the pt be at final adult height?

A

Accelerated growth and may be temporarily tall for age (plus normal signs of puberty)

**Due to skeletal maturation advancing at a more rapid rate than linear growth, final adult stature may be compromised

133
Q

When will girls typically stop growing in relation to their period?

A

girls usually stop growing 2 years after their first period

134
Q

What imaging should you get when working up a female pt for precocious puberty? What labs?

A

Radiograph left hand and wrist

Estradiol level to rule out ovarian tumor/cyst

LH and FSH

135
Q

In central precocious puberty, what levels of LH/FSH would you expect? What should you do next?

A

In central, basal serum concentrations of LH/FSH may be normal

Maturity then has to be demonstrated by GnRH stimulation and LH response

MRI if central to rule out CNS disorder

136
Q

In peripheral precocious puberty, what levels of LH/FSH would you expect? What should you do next?

A

In peripheral, LH and FSH are low due to negative feedback response of high gonadal steroid

US of ovaries if possible peripheral

137
Q

What is the tx for precocious puberty in girls? What drug class?

A

Leuprolide

GnRH analog

138
Q

What is the MOA of Leuprolide?

A

GnRH analog that desensitizes and downregulates pituitary GnRH receptors and thus decrease gonadotropin secretion. Acting as a potent inhibitor of gonadotropin secretion, leuprolide produces an initial increase in luteinizing hormone and follicle stimulating hormone

aka it overstimulates the GnRH receptors to the point that they stop listening and shut off

139
Q

What is considered precocious puberty in boys? Are males or females more likely to have CNS abnormalities? What is the tx?

A

Secondary sex characteristics in males before age 9

males are more likely to have CNS abnormalities

Refer, leuprolide

140
Q

What will the benign variant of precocious puberty present like? Will the timing of true puberty be affected?

A

Benign premature adrenarche is manifested by early development of pubic hair, axillary hair, acne, and or body odor, characterized by normal linear growth

NO bone age advancement though!!

NO! true puberty is not affected

141
Q

What is the timing of puberty related to?

A

the bone age, not the chronologic age

142
Q

When is it considered delayed puberty in girls?

A

Evaluated if there are no pubertal signs by age 13 ( breasts or hair ) or menarche by 16 years old .

Failure to complete pubertal development to tanner stage 5 within 4 years of onset is considered delay

143
Q

**What is the main cause of delayed puberty in boys and girls

A

Main cause is constitutional growth delay

144
Q

What is the tx for delayed puberty in girls?

A

refer to endo!!

low dose estrogen

later switch to OCPs

145
Q

What is considered delayed puberty in boys? What is the tx?

A

No secondary sexual characteristics by 14 or if more than 5 years have elapsed since the first signs of puberty without completion of genital growth

Low dose testosterone to “jump-start” development

146
Q

What is the underlying cause of galactosemia?

A

Total deficiency of galactose-1-phosphate uridyltransferase, which breaks down galactose

147
Q

What organ systems does galactosemia effect the most? How will it present?

A

cataracts of ocular lens, hepatic cirrhosis, and sepsis)

Vomiting, jaundice (direct and indirect), hepatomegaly, and rapid onset of liver insufficiency

148
Q

**In Galactosemia, ______ is progressive and death occurs from ________

A

Hepatic cirrhosis

E. Coli sepsis

149
Q

What is the underlying cause of PKU? If left untreated, why is PKU bad?

A

Decreased activity of phenylalanine hydroxylase, enzyme that converts phenylalanine to tyrosine

Untreated patients exhibit severe mental impairment , hyperactivity, seizures, a light complexion, and eczema

150
Q

What are some common foods that contain PKU? If caught and treated appropriately, what is the prognosis for the pt?

A

This amino acid is in meat, eggs , cheese, nuts and Aspartame

If treatment is implemented shortly after birth, children will develop well physically and can be expected to have normal or near normal intellectual development