Developmental Assessment & Growth Abnormalities Flashcards
(160 cards)
1
A
Skilled individual monitors development over time as part of providing routine care
2
Q
What is the benefit of developmental surveillance?
A
Helps recognize children at risk for developmental disorder
3
Q
What are key elements of developmental surveillance?
A
- Listening to parent concerns
- Obtaining developmental history
- Making observations during visits
- Periodically screening all infants and children for delays using VALIDATED SCREENING TOOLS
- Referring children who fail screening for further eval and intervention
- Recognizing conditions and circumstances that place children at increased risk of delays
- Occur at ALL WELL CHILD VISITS
4
Q
What is a developmental delay
A
child not demonstrating developmental skill by age at which majority of normally developing children have accomplished this task
5
Q
How common are developmental delays?
A
18% younger than 18 have delays or conditions that put them at risk
6
Q
What could the presence of developmental delays cue providers into?
A
Unsuspected but important conditions
7
Q
If a child have a developmental delay, what are examples of referrals for developmental therapies that can be placed?
A
- Speech
- Language
- PT, OT
- Educational therapy
- Birth to 3
- 3 and up services through school
8
Q
What is the M-CHAT?
A
- Stands for modified checklist for autism in toddlers
- Screen 18-30 months to assess risk for autism spectrum disorders
9
Q
What are the stages of M-CHAT?
A
- Two stages
- First stage: 20 item yes/no parents report questionnaire
- Takes less than 5 mins to admin and 2 mins to score
- Second stage: structured follow up questionnaire administered by health care provider with same questions but probes for additional info and examples of at-risk behaviors for any items failed in first stage
10
Q
How is the Denver Developmental Screen used?
A
- Children 2 weeks to 6 years
- Parent and direct observation
- 125 performance based and parent reported items in four areas: personal-social, gross motor, language, and fine motor adaptive
- Have child do specific things for respective categories
11
Q
What are the performance areas for the denver developmental screening tool II?
A
- Personal-social: smiling and getting along with others
- Gross motor: such as walking/running
- Language: such as combining words and understanding language
- Fine motor adaptive: such as grasping, drawing, eye hand coordination
12
Q
What is the Denver Developmental Screen used for?
A
- Compare child’s performance with others same age
- Subjectively allows clinicians to observe and assess child’s overall behavior
13
Q
What is considered a normal denver developmental screen? Suspect?
A
- Normal: no delays and max one caution
- Suspect: two or more cautions and/or one or more delays; rescreen in one to two weeks
- Refer out if certain items still suspect after rescreen
14
Q
Drawbacks of Denver Developmental Screen?
A
- Validity is low
- Small sample size of normal
- Does not require an advanced degree
- Studies show only 50% WITH DEVELOPMENTAL NEEDS IDENTIFIED
- Length of time it takes to complete/score
- High sensitivity, but low specificity
15
Q
What is ages and stages questionnaire?
A
- 19 age-specific surveys asking parents about developmental skills common in daily life
- One month to 5.5 years
- Parent answers questions ie does your baby pick up and eat cheerios?
- Easily tailored to needs of any family with clear drawings and simple directions
- TESTS LANGUAGE, PERSONAL-SOCIAL, FINE MOTOR, GROSS MOTOR, AND PROBLEM SOLVING
16
Q
What does the ages and stages questionnaire test for?
A
- Language
- Person-social
- Fine motor
- Gross motor
- Problem solving
17
Q
What is the cut off for normal on ages and stages?
A
- 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 and earlier if needed
18
Q
What are developmental milestones for 1-2 months?
A
- Holds head erect and lifts head
- Turns from side to back
- Regards faces and follows objects through visual field
- Drops toys
- Becomes alert in response to voices
- Recognizes parents
- Engages in vocalizations
- Smiles spontaneously
- Melodic vowel sounds called “COOING”
- Reciprocal vocal play between parent and child
Smiley Heather (holds head erect and lifts head, regards faces and objects in visual field) Vocalizes (alert to voices, engages in vocalizations, coos, and has reciprocal vocal play) turns from side to back, drops toys, and recognizes her parents
19
Q
Developmental milestones for 3-5 months
A
- Ulnar grasps, then later thumb opposition
- Reaches for and brings objects to mouth
- Raspberry sound
- Sits with support
- Laughs
- Looks toward voice
- Turns from front to back
- Can follow object through the field of vision, but object ceases to exist once infant can’t see it
- Puppy prop with weight supported on forearms and head up
Raspberry Racheal (who is 3 months) reaches for objects and brings to mouth while sitting up, she laughs and looks(toward voice), props herself up, and can follow objects through field of vision (but no object permanence)
20
Q
Developmental milestones from 6-8 months
A
- Babbling
- Sits alone for short period
- First scoops up a pellet then grasps it using thumb opposition
- Imitates “bye bye”
- Passes object from hand to hand in midline
- Rolls from back to stomach
- Inhibited by the word no
- Can start to feed self with puffs or cheerios
- Commando crawl around 7 months
Baby Cece Comma sits alone feeding herself puffs by scooping and passing them hand to hand, is inhibited when her mom says no. She rolls from her back to stomach and says bye bye!
21
Q
Developmental milestones at 9-11 months
A
- Crawls
- Can pull self up into standing position and cruise
- Can stand alone for short period
- Imitates “pat-a-cake” or peek a boo
- Recognizes name
- Uses thumb and index finger to pick up small items, such as pellets (called neat pincer grasp)
- Follows 1 step commands, ex: come here or give that to me
- Babbling continues with repetition of sounds
- Can feed self with puffs or cheerios
- Word comprehension begins and increases over the next few months
- Object permanence begins
Crawly Olly (object permanence) stands and cruises and comes here (1 step commands). He loves pat-a-cake or peek a boo and feeding himself puffs. He knows his name, babbles, and understands some words!
22
Q
Developmental milestones at 1 year
A
- Can start to walk independently
- Mama and dada specific
- Perfects neat pincer grasp
- Gives toys on request
- Can build a tower of two cubes
- Points to desired objects
- Can say 1-2 other words
- Babbling reaches peak
1 year old Pincer Pointer (points to desired objects) Baby Walker gives toys to mom and dad who she names! She says 1-2 other words and builds 2 cube towers
23
Q
Developmental milestones at 18 months
A
- Builds tower of 3-4 cubes
- Throws a ball
- Seats self in chair
- Dumps things out from cups or bottles
- Can walk up and down stairs with help
- Can say around 4-20 words
- Understands 2 step command, ex: go get that toy and bring to me”
- Carries stuffed animal or doll around
- Can feed self with spoon/fork
Carry can feed herself! She is a seat, stair, spoon champion. She throws balls, builds 3-4 cubes, dumps things out, understands 2 step commands, and can say 4-20 words.
24
Q
What developmental milestones develop between 15-18 months?
A
- Protodeclarative pointing
- Protoimperative pointing
25
What is protodeclarative pointing
Something interesting happens and they try to direct you to the event
26
What is protoimperative pointing
Sees an object and looks at you and directs your attention to that object because they want it (imperative I get that)
27
What are developmental milestones at 2 years?
* Giant leap in receptive vocabulary and language development at 2 and up
* Around 50 word vocabulary, can say short phrases with 2 words or more
* Kicks ball on request
* Builds tower of 6-7 cubes
* Points to named objects or pictures (points at remote)
* Turns pages of a book individually
* Plays with mimicry
* Can do imitative behaviors and parallel play
## Footnote
2year old turner (book pages) points to named objects and plays with mimicry and imitation. He kicks balls and builds 6-7 cube towers. He knows 50 words and short phrases and receptive vocab.
28
What are developmental milestones at 30 months?
* Walks backwards
* Hops on one foot
* Uses prepositions
* Copies crude circle
* Points to objects described by use (point to what changes the channel)
* Refers to self as I (may not occur until age 3)
* Holds crayon in fist
* Can carry on a conversation
## Footnote
Nora refers to herself as I, holds crayons and copies crude circles, walks backwards, and hops on one foot. She can point to objects described by use and carry on a conversation using prepositions
29
What are developmental milestones at 3 years?
* Holds crayon with fingers
* Builds tower of 9-10 cubes
* Copies circle
* Gives first and last name
* Rides tricycle using pedals
* Can dress with supervision
* Rule of 3s: 3 numbers, 3 letters, 3 colors, 3 shapes, 3 wheels
## Footnote
Advanced Nora can dress herself, tell people her whole name, copy a full circle with her crayon in her fingers, she can ride a tricyle and build a tower of 9-10 cubes, and rules her 3s: 3 numbers, 3 letters, 3 colors, 3 shapes, 3 wheels
30
What are developmental milestones at 3-4 years?
* Climbs stairs with alternating feet
* Button and unbutton
* "what do you like to do for fun" answers
* Knows own sex
* Gives full name
* Feeds self at mealtime
* Takes of shoes and jacket
## Footnote
Female (knows sex) Fanny McPhee is 3.5. She feeds herself without her shoes and jacket (she unbuttons them!) and can talk to her parents about what she likes to do for fun. She climbs the stairs with alternating feet after dinner
31
What are developmental milestones for 4-5 years?
* Runs and turns without losing balance
* Stands on one leg for around 10 seconds
* Draws a person (head, arms, legs, 2 eyes, no torso)
* Should be able to copy a square
* Knows days of week
* "What do you do if you're cold, hungry?" knows answers
* Self-care at toilet (may need help wiping)
* Dresses self (still needs help tying shoes)
## Footnote
Fourtney runs, stands on one leg, and dresses herself. She loves telling you the days of the week and how to take care of yourself at the toilet and if you are hungry. She will draw a person with no torso
32
Developmental milestones at 5-6 years
* Can catch a ball
* Skips smoothly
* Tells age
* Knows right and left hand
* Can describe favorite TV show with detail
* Does simple chores at home
* Good motor ability but little awareness of dangers
## Footnote
5 year old right handed catcher Fife skips and will tell you his age and his favorite TV show (and what it entails). He does chores and has good motor ability (but doesn't know dangers)
33
What are developmental milestones at 6-7 years
* Knows morning or afternoon
* Reads several one syllable printed words (my, dog, see, boy)
## Footnote
6 year old morning reader
34
What are developmental milestones for 7-8 years?
* Ties shoes
* Knows what day of week it is currently
* Adds and subtracts one-digit numbers
## Footnote
7 year old math tie day
35
What developmental red flags occur at 6 months?
* Persistence of moro (reaction to sudden loss of support) past 6 months
* Failure to smile or show joyful expressions by 6 months
36
What developmental red flags occur at 9 months?
* Not sitting by 9 months
37
What are developmental red flags at 18 months?
* Not walking independently by 18 months
* Hand dominance before 18 months (early sign of CP = one sided weakness)
* Often fine motor delays with gross
38
What are developmental red flags at 12 months
No babbling, pointing, or gesturing by 12 months
39
What are developmental red flags at 16 months?
No single words by 16 months
40
What is a general developmental red flag?
Any regression of speech, language, or social skills at any age
41
What is more predictive of cognition and school achievement than any other milestone?
Language development
42
When can poor language development be fixed?
If delays due to lack of stimulation and exposure, or hearing impairments
43
What is the progression of language understandability?
* 2 years: 50%
* 3 years: 75%
* 4 years: 100%
44
What are changes in weight gain from birth to 1 year?
* Doubles birth weight by 6 months
* Triples by age 1
* Months 1-4: gain 1.5-2 lbs each month, while growing 1-1.5 inches per month
* Months 4-7: gain another 1-1.5 lbs per month, while growing another 2-3 inches total
* Months 8-12: grow .5-1 inch per month
* By 8 months the average boy weighs 14.5-17.5 lbs, while the average girl weighs about a half pound less
45
When should growth charts be checked?
Every well child check
46
What is included in growth charts?
* Height, weight, and head circumference
* Head circumference: birth-24 months
* Healthy, well-nourished infants should trend at predictable weight
47
How are growth charts scored?
Percentiles
48
What is a red flag on growth charts?
Major percentile drop
49
What is a type I growth abnormality?
* Head circumference preserved and weight depressed more than height
* Results from inadequate caloric intake, excessive loss of calories, or inability to use calories peripherally
* Result of poverty, lack of caregiver understanding, poor caregiver-child interaction, abnormal feeding pattern, or a combo of factors
50
What is a type II growth abnormality?
* Normal head circumference
* Proportionate dimunition of height and weight
* Associated with genetically short stature, endocrinopathies, constitutional growth delay, heart or renal disease, or skeletal dysplasia
51
What is a type III growth abnormality
* 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
52
What are different types of newborn growth abnormalities?
* AGA: appropriate for gestational age (determined by plotting birth weight and gestational age on a standard grid)
* SGA: small for gestational age
* LGA: large for gestational age
* IUGR: intrauterine growth restriction
53
What can cause birth weights in normal newborns to vary?
* Race
* Maternal nutrition
* Access to obstetric care
* Environmental factors such as altitude, smoking, and drug and alcohol abuse
54
What is small for gestational age?
* Birth weights below 10th percentile
* Includes constitutionally small infants growing at potential
55
What is IUGR a result of?
* Poor maternal environment
* Instrinsic fetal abnormalities
* Congenital infections
* Fetal malnutrition
56
If an infant is small for gestational age, what distinction should be made?
Symmetrical vs asymmetrical
57
What is symmetrical growth abnormality?
* Weight, length, and occipitofrontal circumference all <10%
58
What does symmetrical growth abnormality suggest as far as cause?
* Early pregnancy
* Chromosomal abnormality
* Drug or alcohol use
* Congenital viral infections (ex TORCH)
59
What is asymmetrical growth abnormality?
* Only weight is <10%
60
What are potential causes of asymmetrical growth abnormality?
* Problem late in pregnancy
* Poor weight gain from mom during pregnancy
* Multiple gestation
61
When are large for gestational age infants commonly seen?
Diabetic mothers
62
Does asymmetrical growth restriction or symmetric growth restriction lead to higher outcomes?
Asymmetric whose brain growth spared
63
What are LGA infants at higher risk for?
Birth trauma such as Erb's palsy or clavicle fractures
64
What is failure to thrive in children less than 2?
* Children who fall below 3rd percentile on growth curve for weight or height
* Rate of weight gain has declined across 2 major percentiles
65
What causes failure to thrive?
* Lack of one of four fundamental constituents: oxygen, substrate (surface to grow or attach), hormones, and love
* Deficient quantities of any one or combination impedes normal weight gain
66
What does oxygen deprivation at the tissue level result from leading to failure to thrive?
* CHF
* Chronic lung disease
* Anemia
* --> poor weight gain
67
What are 3 questions to ask about FTT to determine cause?
1. Are there adequate calories going in?
2. Is something inside burning up the calories too quickly?
3. Are they losing the calories that are put in?
68
What hormone deficiencies can result in failure to thrive?
* Growth hormone
* Insulin-like growth factors
* Glucocorticoids
* Thyroid hormone
69
How does chronic disease lead to failure to thrive?
* Induction of anorexia
* Malabsorption
* Increased metabolic needs
70
What conditions that lead to deficiency in energy supply (consumption) can cause failure to thrive?
* Calories witheld from or improperly presented to child because refused, not ingested, vomited, or not absorbed
* In utero conditions
* Formula preparation mistakes
* Breastfeeding difficulties
* Parent-child psychosocial dysfunction
* Maternal depression
* Intentional abuse or neglect
* Poverty
* Caloried not properly ingested or digested, difficult feeders
* Structural abnormalities of the oro- or nasopharynx and GI tract
71
What could mucous membranes, hair, nails, and skin give indications of pertaining to failure to thrive?
* Vitamin
* Protein
* Fat
* Micronutrient deficiencies
72
Physical exam for failure to thrive
* General: listless, distractable, irritable, sq body fat, muscle mass/tone, dysmorphic features
* Mucous membranes, hair, nails, skin
* Head, eyes, ears, nose, throat (open fontanelles for hypothyroidism or softening of skull bones in vitamin D deficiency)
* Thyroid for hypo/hyperthyroidism
* Lung and cardiac exam for chronic conditions
* Abd exam to rule out organomegaly due to tumor or infection
* Neuro exam for inability to ingest adequate calories
73
Baseline labs for FTT
* CBC
* CRP
* ESR
* CMP
* Urinalysis
* Urine culture
* Stool culture/studies
* Thyroid
74
Additional labs for FTT
* Additional testing if historical or PE evidence of these diagnoses present
* Child has not responded to dietary or behavior modification
75
Treatment of FTT (general)
* Tailored to individual needs of child and family
* Therapy towards underlying condition if identified
76
Treatment of mild-to-moderate FTT
* Management by PCP with consult from dietician or subspecialist
* CPS alerted if abuse/neglect
* Nutritional rehab, parental education, behavioral intervention
* Do not overfeed malnourished infants at outset due to refeeding causing malabsorption and diarrhea (dumping syndrome)
77
Phase 1 of 3 phase regimen for FTT
* Provision of 100% of daily age-adjusted energy and protein requirements based on child's weight on day 1
* If phase well tolerated, phase 2 starts
* Multivitamin and iron supplementation
78
Phase 2 of 3 phase FTT regimen
* Intake increased to provide adequate nutrition to achieve catch up growth, ie 150 kcal if 100 kcal is normal
* Multivitamin and iron supplementation
79
Phase 3/3 of 3 phase regimen for FTT
* Varied diet offered ad libitum as child approaches ideal body weight
* Multivitamin and iron supplementation
80
Severe FTT treatment
* Hospitalize if less than 60% IBW for height
* Nutritionist, social workers, pediatricians, pediatric subspecialists consult
* Nutritional rehab may entail tube feedings and oral supplements
81
Follow up for FTT
* Poor weight gain followed up diligently
* Initial weekly visits for progress
* Ongoing developmental, behavioral, and social evals
82
Who evaluates most common disturbances of growth?
Pediatric endocrinologist
83
What is the most critical parameter in evaluation of a child's growth?
Height velocity: an increase or decrease in height percentiles between age 2 and onset of puberty always warrants evaluation
84
What can make evaluation of disturbances of growth more difficult to distinguish from normal during the first 2 years of life?
Catch-up or catch-down growth
85
What determines growth and height potential?
Genetic factors
86
How is target height determined?
* Boys: mean parental height + 6 cm
* Girls: mean parental height - 6.5 cm
87
How is bone age evaluated?
* Comparing radiograph of left hand and wrist with certain standards
* Helps determine growth potential
88
What are normal variants of growth?
Familial short stature and constitutional growth delay
89
What is accepted normal short stature?
Between the 3rd and 97th percentiles
90
Which children are more likely to have pathologic short stature?
* Growth velocity is abnormal
* Significantly short for their family
91
How can you differentiate chronic illness/nutritional deficiency short stature and endocrine causes of short stature?
* Chronic illness/nutritional: poor linear growth mostly with poor weight gain
* Endocrine: normal or excessive weight gain with short stature
92
What are characteristics of familial short stature?
* Normal birth weight and length
* First two years of life linear growth velocity decelerates as reach genetically determined percentile
* Once target percetile reached, normal linear growth parallel to growth curve
* Grows at normal rate at or below 3rd percentile
* Grows along his/her growth percentile and final height short but appropriate for family
* Puberty at normal age
93
Characteristics of constitutional growth delay
* Growth pattern similar to familial short stature
* Children healthy and growing below but parallel to 3rd percentile line
* Birth weight normal, but between 6 and 24 month linear growth and weight track down to 3rd percentile and below
* After 3, follow their own curve parallel to low end of growth chart
* Delayed onset of puberty and growth spurt
* Growth beyond time average child stops growing
* Final height appropriate for target height
* "Late bloomers"
* Bone age delayed
94
What is growth hormone deficiency characterizedby?
* Decreased growth velocity
* Delayed skeletal maturation in absence of other explanations
* May be isolated or coexist with other pituitary hormone deficiencies
* Can be congenital, genetic, acquired, or idiopathic (most common)
95
Early s/s of short stature due to GHD
* Normal birth weight with only slightly reduced length
* Hypoglycemia due to associated pituitary deficiencies (hypothyroidism or adrenal insufficiency)
* Micropenis in newborn males with gonadotropin and GH deficiency
* Lipolysis --> truncal adiposity
* Subnormal growth velocity = primary manifestation of idiopathic or acquired GHD
96
Labs for growth hormone deficiency
* Random samples of GH of no value due to pulsatile nature
* Serum concentrations of IGF-1 and IGFBP-3 give estimate of GH secretions
* When ambiguous, trial GH treatment can be used
97
Treatment for growth hormone deficiency
* SQ recombinant GH 7 days per week
* With early treatment, can reach normal or near normal adult height
* Recombinant IGF-1 for GH resistance or IGF-1 deficiency
98
Side effects of recombinant GH
* Rare
* Benign intracranial hypertension
* Slipped capital femoral epiphysis
99
What is psychosocial short stature?
* Growth retardation associated with emotional deprivation
* Undernutrition can contribute
100
Symptoms of psychosocial short stature
* Bizarre eating and drinking habits
* Bowel and bladder incontinence
* Social withdrawal
* Delayed speech
101
Management of psychosocial short stature
* GH secretion diminished but replacement not beneficial
* Foster home placement or a change in psychological environment at home usually --> improved growth and GH secretion, personality, and eating
102
Features of Prader-Willi
* Chromosomal disorder of chromosome 15
* Almond shaped eyes
* Strabismus
* Short stature
* Obesity
* Hypogenitalism
* Small hands and feet with tapering fingers
* Deficient GH
* Hypotonia at birth = hallmark
* Feeding difficulties, poor suck--> failure to thrive
* Early childhood: late acquisition of motor milestones, hyperphagia
* Late childhood and adolescence: secondary sex characteristics delayed, menarche delayed, obesity (DM, HTN, OSA)
* Behavioral problems and learning disabilities
* Compulsive picking at skin
* Obsessive hyperphagia (3-4 years) = hallmark
103
What is hallmark of Prader-Willi?
Obsessive hyperphagia (noticed at 3-4 years
Hypotonia at birth
104
Diagnosis of Prader-Willi
* Clinical
* Confirmed by genetic testing
105
Treatment of Prader-Willi
GH replacement
106
What is Turner syndrome?
Sex chromosome abnormality (monosomy X, gonadal dysgenesis)
107
Clinical features of Turner syndrome
* Webbed neck
* Triangular fascies
* Short stature
* Wide set nipples
* Amenorrhea
* Absence of secondary sex characteristics
* Coarctation of aorta and GU malformations
* IQ normal, but learning disabilities common
* 1:10000 females
108
Treatment of Turner syndrome
* Estrogen replacement
* GH replacement
109
Clinical evaluation of short stature
* H&P: ask size at birth, pattern of growth, familial growth patterns, pubertal stage, dysmorphic features, psych health
* Nutritional assessment
* Radiograph of left hand and wrist for bone age
* CBC (anemia or infection)
* ESR (cancer, chronic infection)
* U/A, BUN, Creatinine (renal disease)
* CMP
* Stool examination
* Karyotype (girls)
* Thyroid function tests
* IGF-1 for GH levels
110
What are clinical features of hypothyroidism (leading to short stature)
## Footnote
can be congenital or acquired, not common birth to 10, often present with goiter
* Growth retardation
* Decreased physical activity
* Weight gain
* Constipation
* Dry skin
* Cold intolerance
* Delayed puberty
* Neonates with congenital: thick tongue, large fontanelles, poor muscle tone, hoarseness, umbilical hernia, jaundice, intellectual delays
111
Labs in hypothyroidism --> short stature
* T4
* FT4
* T3 low
* TSH increased in primary hypothyroidism
* Note: tested on newborn screen
112
What can hypothyroidism cause if left untreated?
Neurocognitive impairment and impaired physical growth
113
What is the most common cause of hypothyroidism in pediatrics?
* Hypoplasia or aplasia of thyroid gland or failure to migrate to normal anatomic location
* Can also be caused by enzymatic defect in thyroid hormone synthesis
* Iodine deficiency
114
How do most infants appear at birth with hypothyroidism
Normal even if completely absent thyroid, gain weight normally for first few months
115
What is juvenile hypothyroidism associated with?
* Short stature
* Abnormal weight gain
116
Signs and symptoms of hypothyroidism in older children
* Delayed closure of fontanelles
* Retarded dental eruption
* Delayed epiphyseal development
* Skin dry, scaly, thick, coarse, pale, cool, mottled, or yellowish tinge
* Hair dry, brittle, lateral thinning of eyebrows
* Hypotonia and delayed DTR's
* Physical/mental sluggishness, constipation, large tongue, hypothermia, bradycardia, transient deafness
* Puberty may be delayed
* Galactorrhea due to prolactin secretion (increased TRH levels)
117
Treatment for hypothyroidism
* ASAP
* In first month of life and good compliance --> good neurocognitive outcome
* Levothyroxine (synthroid) = drug of choice
117
Labs in hypothyroidism
* Elevated TSH in primary
* Total T4 and FT4 decreased
* Central hypothyroidism: TSH low or inappropriately normal
* PL elevated
* GH decreased
* No imaging necessary
* Note: all newborns screened shortly after birth, state law in WV, abnormal confirmed with FT4 and TSH
118
Hyperthyroidism presentation
* More common in females than males
* usually presents in adolescence
* Remissions and exacerbations
* Weight loss (despite increased appetite)
119
Labs for hyperthyroidism
* TSH suppressed
* T4, FT4, T3, FT3 increased
120
Treatment of hyperthyroidism
* Beta blockers to control nervousness and tachycardia (shaky and jittery)
* Antithyroid agents
* PTU
* Methimazole = 1st choice in kids
* Radiation with iodine ablation if don't respond to antithyroid agents
* Surgery for extremely large goiters, very young or pregnancy
121
What is the 1st choice medication for hyperthyroidism in kids?
Methimazole
122
What causes neonatal graves disease?
Maternal TSH receptor antibodies cross placenta and stimulate excess thyroid hormone production in fetus
123
Clinical features of neonatal graves disease
* Irritability
* IUGR
* Poor weight gain
* Flushing
* Jaundice
* Hepatosplenomegaly
* May develop several days after birth, especially if mom treated with PTU
124
Treatment of neonatal graves disease
* Beta Blockers
* Steroids
* Temporary, usually resolves over 1-3 months
125
What is constitutional tall stature?
Child who is taller than his or her peers and is growing at a velocity that is within normal range for bone age
126
Is growth hormone excess common?
NO: rare
127
When does growth hormone excess occur and what does it cause?
* Before puberty and fusion of long bones
* Excessive secretion of GH by somatotroph adenomas cause gigantism
* High IGF-1 stimulates excessive skeletal growth
128
Treatment of growth hormone excess
Treat the adenomas
129
What is precocious puberty in girls?
Onset of secondary sexual characteristics at or before age 8 (can be 7 for AA and hispanic girls)
130
Two types of precocious puberty
* Central: idiopathic or due to CNS abnormality
* Activation of GnRH, increase in gonadotropin release, increase in sex steroids, identical of normal puberty
* Peripheral: independent of gonadotropin secretion, markedly elevated estrogen levels and rapidly progressive pubertal changes
131
Causes of peripheral precocious puberty
* Ovarian or adrenal tumors
* Congenital adrenal hyperplasia
* Ovarian cysts
* McCune-Albright Syndrome
* Exogenous estrogen
132
signs and symptoms of precocious puberty in girls
* Breast development, pubic hair growth
* Menarche
* Possible vaginal bleeding due to excess estrogen
* Increased body odor
* Accelerated growth and may be temporarily tall for age
* Skeletal maturation advaces at more rapid rate than linear growth --> final adult stature may be compromised
133
Labs for precocious puberty in girls
* Radiograph of left hand and wrist
* Estradiol to rule out ovarian tumor/cyst
* Basal serum concentrations of LH/FSH may be normal in central
* Peripheral, LH and FSH low due to negative feedback of high gonadal steroids
* MRI if central to rule out CNS disorder
* US of ovaries if possible peripheral
134
Treatment of precocious puberty in girls
* Refer
* Leuprolide: GnRH analog
135
MOA of leuprolide
* GnRH analog desensitizes and downregulates pituitary GnRH receptors and decreases gonadotropin secretion
* Initial increase in luteinizing hormone and FSH ==> transient increase in T and DHT (in males) and estrone and extradione (in premenstrual females)
* Continuous admin-- suppression of steroidogenesis d/t decreased levels of LH and FSH --> decrease in T and estrogen
136
What is considered precocious puberty in males?
Secondary sex characteristics in males before age 9
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What is the presentation of precocious puberty in males?
* Can be peripheral or central
* More likely to have CNS abnormalities
* Can have adrenal tumor or CAH
* Increased growth rate and growth of pubic hair MC presenting signs
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Lab testing for precocious puberty in boys
* Elevated T levels
* LH response to GnRH stimulation testing
* Cranial MRI
139
Management of precocious puberty in boys
* Refer
* Leuprolide
140
What is benign premature adrenarche?
* Early development of pubic hair, axillary hair, acne, and or body odor
* Characterized by normal linear growth and no bone age advancement
* Watch growth curves for accelerated linear growth
* Timing of true puberty not affected
141
When would girls be evaluated for delayed puberty?
* 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
142
What is the main cause of delayed puberty in girls?
Constitutional growth delay
143
Other causes of delayed puberty in girls
* Primary hypogonadism
* Primary ovarian failure
144
Labs for delayed puberty in girls
* Bone radiograph
* CBC
* ESR
* CMP
* Thyroid function studies
* Celiac screen
* FSH/LH
145
Treatment for delayed puberty in girls
* Low dosage estrogen
* Later switch to OCPs
* Endocrine manages
146
What is considered delayed puberty in boys?
* No secondary sexual characteristics by 14 or if more than 5 years have elapsed since first signs of puberty without completion of genital growth
147
Main cause and other causes of delayed puberty in boys
* Main cause: constitutional growth delay
* Hypothalamic/pituitary insufficiency
* Destruction of testicular tissue
* Primary hypogonadism
148
Laboratory testing for delayed puberty in boys
* Radiograph of bone
* Testicular size/descent
* LH/FSH levels
149
Treatment of delayed puberty in boys
* Low dose testosterone to "jump-start" development
150
What is galactosemia?
* Total deficiency of galactose-1-phosphate uridyltransferase that breaks down galactose
151
What does galactosemia lead to?
* Accumulation of galactose-1-phosphate in liver and renal tubules
* Hepatic parenchymal disease and renal Fanconi syndrome (cataracts of ocular lens, hepatic cirrhosis, and sepsis)
* Vomiting, jaundice
* Hepatomegaly
* Rapid onset of liver insufficiency
152
What liver condition does galactosemia cause?
Hepatic cirrhosis that is progressive
153
What does death from galactosemia occur from?
E. Coli sepsis
154
Labs for galactosemia
* Part of newborn screening
155
Treatment for galactosemia
* Galactose free diet as soon as diagnosis made
* Exclude milk
* Avoid galactose for life and provide calcium replacement
156
What is PKU?
* Disorder of amino acid metabolism
* Decreased activity of phenylalanine hydroxylase, enzyme that converts phenylalanine to tyrosine
157
Diagnosis of PKU
Newborn screening
158
Untreated patiens s/s of PKU
* Severe mental impairment
* Hyperactivity
* Seizures
* Light complexion
* Eczema
159
Treatment of PKU
* Limit dietary phenylalanine to amounts that permit normal growth and development
* Phenylalanine restriction throughout life
* Metabolic formulas deficient in phenylalanine available but must be supplemented with normal milk
* If treatment implemented shortly after birth, will develop well physically and have normal or near normal intellectual development
## Footnote
AA in meat, eggs, cheese, nuts, and aspartame
