Developmental Assessment & Growth Abnormalities Flashcards
1
Q
- A skilled individual monitors development over time as part of providing routine care
- Helps recognize children at risk for a developmental disorder
A
Developmental Surveillance
2
Q
elements of developmental assessment
A
- Listening to parent concerns
- Obtaining a developmental history
- Making careful observations during office visits
- Periodically screening all infants and children for delays using validated screening tools
- Referring children who fail screening tests for further evaluation and intervention
- Recognizing conditions and circumstances that place children at increased risk of delays
- Should occur at all well child visits
3
Q
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.
Prompt recognition is key
A
Developmental delay
4
Q
what is M-CHAT for?
A
- Modified checklist for Autism in toddlers
- Screen toddlers 18-30 months to assess risk for Autism Spectrum Disorders
- Two stage tool to assess risk for ASD in children
- 1st stage is a 20-item yes/no parent report questionnaire
- < 5 min to administer and 2 min to score
There is a second test but probes for additional information and examples of at-risk behaviors for any items failed on the first stage
5
Q
What is the Denver Developmental Screening Tool II:
A
- compares a given child’s performance with the performance of other children the same age
- Subjectively allows clinician to observe and assess child’s overall behavior
6
Q
the 4 areas to screen functioning in Denver Developmental Screening Tool II:
A
- Personal-social: such as smiling and getting along with others
- Gross motor: such as walking or running
- Language: such as combining words and understanding language
- Fine motor adaptive: such as grasping, drawing, eye hand coordination
Will have child do specific things (such as walk up steps, wave bye bye, or bang 2 blocks together) for respective categories
7
Q
interpretations for Dever Developmental Screen
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
8
Q
Drawbacks of Denver
A
- Validity is low
- Small sample size of normal (based on a little over 2000 kids)
- Does not require an advanced degree
- Studies show only 50% with developmental needs are identified
- Length of time it takes to complete/score
- High sensitivity , but low specificity
9
Q
Age and Stages Questionnaire assess for what 6 things
A
- Communication
- Gross Motor
- FIne Motor
- Problem Solving
- Personal
- Social
10
Q
cut off for ages and stages questionnaire
A
2 Standard Deviations below 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
11
Q
developmental milestones during 1-2 mo
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
12
Q
developmental milestones uring 3-5 mo
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 (around 4 months)
- An infant can follow an object through the field of vision, but the object ceases to exist once infant can’t see it
- “puppy prop” weight supported on forearms with head up
13
Q
dev milestones during 6-8 mo
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
- start to feed self with puffs or cheerios
- “Commando” crawl around 7 months
14
Q
dev milestones during 9-11 mo
A
- Crawls
- pull self up into standing position and cruise
- 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 (neat pincer grasp)
- Follows 1 step commands, ex: “Come here” or “Give that to me”
- Babbling continues with repetition of sounds, “da da da da”
- Can feed self with puffs or cheerios
- Word comprehension begins and increases over the next few months
- Object permanence begins (realization that objects exist even when not seen)
15
Q
dev milestone during 1 year
A
- 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
16
Q
dev milestones during 18 mo
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
- Recognizes 3 body parts
17
Q
dev milestones during 2 years
A
- Giant leap in receptive vocabulary and language development at 2 and up
- Around a 50 word vocabulary
- Can say short phrases, +2 words - 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
- imitative behaviors and parallel play
18
Q
dev milestones during 30 months
A
- 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
- carry on a conversation
19
Q
dev milestones during 3 years
A
- 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
20
Q
dev milestones during 3-4 years
A
- 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 off shoes and jacket
21
Q
dev milestones during 4-5 years
A
- 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)
22
Q
dev milestones during 5-6 years
A
- Can catch a ball
- Skips smoothly
- Tells age
- Knows right and left hand
- Can describe favorite tv show with detail
- simple chores at home
- Good motor ability but little awareness of dangers
23
Q
dev milestones during 6-7 years
A
- Knows morning or afternoon
- Reads several one syllable printed words (my, dog, see, boy)
24
Q
dev milestones during 7-8 years
A
- Ties shoes
- Knows what day of week it is currently
- Adds and subtracts one-digit numbers
25
Developmental red flags
1. Not sitting by **9 months**
1. Persistence of Moro **>6 months**
1. Not walking independently by **18 months**
1. Hand dominance **< 18 months**
- early sign of CP i.e. one sided weakness
1. Often, fine motor delays are coupled with gross motor delays
2. No babbling, pointing, gesturing by **12 months**
1. No single words by **16 months**
1. Failure of 2 word and 3 word sentences by **24 and 36 months**
1. Failure to smile or show joyful expressions by **6 months**
1. Any regression of speech, language or social skills at any age
26
___ ___ is more predictive of cognition and school achievement than any other milestone
Language Development
27
language development is remediable when delays are caused by?
lack of stimulation and exposure
hearing impairments
28
The first ? years of life are a time of extraordinary physical growth
5
29
assessing a child's growth shoul be checked when?
**_every_** WCC
30
what components are part of the growth chart/curve?
* Height, weight, and head circumference
* Head circumference Birth-24 months
Healthy, well-nourished infants should **trend** at a predictable weight
31
what is a red flag when observing a child's growth chart?
Major percentile drops
32
MC type
head circumference is preserved and the weight is depressed more than the height.
what type of growth abnormality?
Type 1
33
cause of Type 1 growth abnormality
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 combination of factors*
34
* normal head circumference
* proportionate diminution of height and weight
what type of growth abnormality
Type II
Associated with genetically short stature, endocrinopathies, constitutional growth delay, heart or renal disease, or various forms of skeletal dysplasias
35
**All three parameters** of growth are lower than normal
Associated with central nervous systems abnormalities, chromosomal defects, and in utero or perinatal insults.
what type of growth abnormality
type III
36
how is AGA determined?
This is determined by plotting birth weight and gestational age on a standard grid
37
infants have birth weights below the 10th percentile
infants include constitutionally small infants growing at their potential
what is their gestational age?
Small For Gestational Age (SGA)/Intrauterine Growth Restriction
38
Infants with intrauterine growth restriction (IUGR) is a result of ?
poor maternal environment, intrinsic fetal abnormalities, congenital infections, or fetal malnutrition
39
An important distinction, particularly in SGA infants, is whether a growth disturbance is ____ or ____
symmetrical or asymmetrical
40
difference between symmetrical vs asymmetrical gorwth abnormality
1. **Symmetrical: weight, length, and occipitofrontal circumference _all ≤10%_**; an event of **early pregnancy**: chromosomal abnormality, drug or alcohol use, or congenital viral infections (ex: TORCH)
2. **asymmetrical: _only wt is ≤10%_**; a problem **late in pregnancy** (pregnancy induced HTN or placental insufficiency)
- outlook for **normal growth and development is better in asymmetrically growth-restricted infants** whose intrauterine brain growth has been spared
41
LGA infants are most commonly seen born to ____ mothers
diabetic
42
what type of infants are at risk for birth trauma such as Erb’s palsy(injury to upper nerves of the brachial plexus), clavicle fractures
Large for Gestational Age (LGA)
43
Children who fall below the 3rd percentile on the growth curve
what is this term
Failure To Thrive
44
T/F: A single observation of weight in a child is generally sufficient enough to make any diagnosis (FTT)
F: a single observation is INSUFFICIENT
45
Infants or young children who either fall below a given percentile wt for age or wt for ht ( < 3%) or whose rate of wt gain has declined across **? major percentiles** invite close scrutiny
2
46
One common set of criteria defines failure to thrive in children younger than 2:
* Weight consistently less than 3rd percentile for age
* Weight that has **fallen across two major percentiles** on the national center for health statistics standard growth charts
47
Infants and children grow in the presence of adequate amounts of four fundamental constituents:
1. Oxygen
1. substrate (a surface on which an organism grows or is attached)
1. hormones
1. love <3
48
how does FTT happen?
* Deficient quantities of any one or a combination of the 4 fundamental constituents suffice to impede normal weight gain
* O2 deprivation at tissue level --> CHF, chronic lung disease, or anemia = poor wt gain
* Inadequate calories, protein, or micronutrients either from environmental deprivation, malabsorption, or inability to metabolize them at the tissue level
49
several way of looking at FTT :
1. Are there adequate calories going in? ( If not , then why?)
1. Is something inside burning up the calories too quickly? (If so, then what ?)
1. Are they losing the calories that are put in? (If so , then how ?)
50
Deficiencies in ___ can result in FTT
| endo stuff
growth hormone
Insulin-like growth factors
glucocorticoids
thyroid hormone
other regulators of growth
51
Conditions that lead to ____ ( consumption) can cause FTT
deficiency in energy supply
Things such as calories withheld, in utero conditions, formula preparation mistakes, breastfeeding difficulties, parent-child psychosocial dysfunction, maternal depression, intentional abuse or neglect, poverty
52
hx components of FTT
1. Prompt evaluation of infants and children who do not gain weight as expected is important
1. **Feeding**: A thorough feeding history is essential
2. **vomitting**
3. **stools**
4. **SHx**
5. **MHx**
6. **FHx**
53
questions to ask about feeding for FTT hx?
- Bottle or breast fed?
- How often breastfeed, and how long?
- How many ounces of formula in a 24 hour period?
- When were solids introduced?
- Picky or difficult eater?
- More juice instead of calorically rich nutrients?
54
PE for FTT
1. On initial exam, observe the child’s general relatedness to the parent or parents and the examiner
- Is the child listless, easily distractible, or irritable?
- Can the child be engaged to make eye contact
1. Any presence of subcutaneous body fat, muscle mass/tone, dysmorphic features
2. any evidence of malnutrition ( Good physical exam )
3. Palpate the thyroid gently for hypo/hyperthyroidism
4. Lung and cardiac examination
5. Abd exam to rule out organomegaly associated with tumor or infection
6. Neuro exam may suggest explanations for an infants inability to ingest adequate calories
55
baseline FTT labs
1. CBC
1. C-reactive protein
1. ESR
1. CMP
1. Urinalysis
1. Urine culture
1. Stool culture/studies
1. Thyroid
56
when to order additional labs for FTT
* for malabsorption, endocrine disorders, occult infection, malignancy, and cardiac, pulmonary, or renal abnormalities
* when the child has not responded to dietary or behavior modification, indicating moderate to severe FTT
57
general management for FTT
* Tailored to individual needs of child and family
* For infants and children in whom a specific diagnosis has been identified, therapy should be directed toward the underlying disease/condition
* The child’s condition should dictate the initial approach to therapy
58
tx for mild-moderate FTT?
what may happen if you overfeed a malnourished infant?
* Managed with PCP with consultation from dietician and other subspecialists
* CPS alerted in any suspected cases of abuse/neglect
* focus on nutritional rehabilitation, parental education, and behavioral intervention
* may induce malabsorption and diarrhea (**dumping syndrome**)
59
typical 3 phase regiment for FTT tx?
* **Phase 1**: provision of 100% of daily age-adjusted energy and protein requirements based on child’s weight on day 1
* If well tolerated, _phase 2 starts_
* **Phase 2**: Intake increased to provide adequate nutrition to achieve catch-up growth.
* **Phase 3**: a varied diet is offered ad libitum as the child gradually approaches ideal body weight
*Multivitamin and iron supplementation should be part of every refeeding*
60
Children who are less than ?% of ideal body weight for height should be hospitalized
60% - severe FTT
61
disturbances of growth is MC evaluated by who?
a pediatric endocrinologist
62
___ ___ is the most critical parameter in evaluation of a child’s growth
Height velocity
An increase or decrease in height percentiles between age 2 years and the onset of puberty always warrants evaluation
63
what is Bone age? what is used to XR?
* Skeletal maturation or bone age help determine growth potential
* evaluated by comparing a radiograph of the child’s left hand and wrist with certain standards (Greulich-Pyle scale)
* hand is XR with minimal radiation
64
___ ____ __ is more likely in children whose growth **velocity is abnormal** (crossing major height percentiles on the growth curve), or who are significantly short for their family
Pathologic short stature
65
In contrast, endocrine causes of short stature are usually associated with ?
| wt
normal or excessive weight gain
66
what is Familial Short Stature (FSS)
* Typically have **normal birth weight and length**
* First two years of life their linear growth velocity **decelerates** as they near their genetically determined percentile
* Once the target percentile is reached, the child resumes normal linear **growth parallel** to the growth curve
* **This child grows at a normal rate at or below 3rd percentile**
67
* 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**
term?
Short Stature
68
What is Constitutional Growth Delay (CGD)
Don’t necessarily have short parents
* **Have a growth pattern similar to those with familial short stature**
* Children are healthy and growing below but parallel to the 3rd percentile line
* Birth weight is normal, but between 6 and 24 months’ linear 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
69
One of the biggest differences between constitutional growth delay and familial short stature is ?
children with constitutional growth delay have a delayed onset of puberty and growth spurt
70
how can growth hormone deficiency (GHD) affect short stature?
* Growth Hormone is secreted in a pulsatile pattern in response to sleep, exercise, and hypoglycemia
* **GHD is characterized by decreased growth velocity** and delayed skeletal maturation in the absence of other explanations
* May be isolated or coexist with other pituitary hormone deficiencies
* Can be congenital, genetic, acquired, or **idiopathic (MC)**
71
s/s GH Def.
with Short Stature
* Possible hypoglycemia due to other associated pituitary deficiencies (hypothyroidism or adrenal insufficiency)
* **Micropenis** if gonadotropin and GH deficiency
* the primary manifestation of idiopathic or acquired GHD is **subnormal growth velocity**
72
best lab for GH secretion for short stature
**Serum IGF-1 and IGFBP-3**
When results of GH tests are ambiguous, a trial of GH treatment can help determine whether an abnormally short child will benefit from GH
73
tx for GH Def.
with short stature
* **SQ recombinant GH** given 7 d per week
* With early tx and dx, children can reach normal or near normal adult height
* _GH resistance or IGF-1 deficiency_- **Recombinant IGF-1**
74
Se of SQ recombinant GH
rare; benign intracranial HTN and slipped capital femoral epiphysis
75
what is Psychosocial Short Stature?
* Growth retardation associated with **emotional deprivation**
* - Undernutrition can contribute to growth retardation
* bizarre eating and drinking habits, bowel and bladder incontinence, social withdrawal, and delayed speech
* **GH secretion diminished, but _GH replacement not beneficial_**
* 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
76
s/s of Prader-Willi
1. Almond shaped eyes, strabismus, short stature, obesity, hypogenitalism, small hands and feet with tapering fingers, deficient GH
1. **Hypotonia at birth (hallmark)**
1. Feeding difficulties, including poor suck, which can lead to FTT
1. Early Childhood: late acquisition of major motor milestones, hyperphagia
1. Late childhood and adolescence: Secondary sex characteristics delayed, menarche delayed, other complications of obesity
1. Behavioral problems and learning disabilities.
1. Compulsive picking at the skin
1. **_Obsessive hyperphagia_** **(hallmark - noticed at 3-4 years)**
77
tx for prader Willi
GH replacement
78
* Sex Chromosome Abnormality (Monosomy X, Gonadal Dysgenesis)
* Webbed neck, triangular facies, short stature, wide set nipples, amenorrhea, absence of secondary sex characteristics
* Associated with coarctation of aorta and genitourinary malformations
* IQ normal, but learning disabilities are common
* 1:10000 females
dx? management?
turners
Estrogen replacement and GH replacement
79
w/u for short stature
1. Radiograph of left hand and wrist for bone age
1. CBC (anemia or infection)
1. ESR (cancer, chronic infection)
1. U/A, BUN, Creatinine (renal disease)
1. CMP
1. Stool Examination
1. Karyotype (girls)
1. Thyroid Function Tests
1. IGF-1- represents GH levels
80
* Growth retardation, decreased physical activity, weight gain, constipation, dry skin, cold intolerance, and delayed puberty
* Neonates with congenital hypothyroidism often look normal but may have thick tongue, large fontanels, poor muscle tone, hoarseness, umbilical hernia, jaundice, and intellectual delays
dx? what labs would be low and high?
Hypothyroidism
T4, FT4, and T3 are low, TSH levels elevated in primary hypothyroidism
*Hypothyroidism tested for on the newborn screen .*
81
if hypothyroidism is left untreated, it can cause?
* mental slowness and impairs physical growth
* neurocognitive impairment
82
MCC of hypothyroidism?
other causes?
* **hypoplasia or aplasia of thyroid gland** or failure of gland to migrate to its normal anatomic location
* Also can be caused by enzymatic defect in thyroid hormone synthesis
* Iodine deficiency
83
Galactorrhea can happen with hypothyroidism, why?
prolactin secretion ( Increased TRH levels )
84
tx for hypothyroidism
* Treatment started as soon as possible
* Initiation of treatment in first month of life and good compliance during infancy usually results in a normal neurocognitive outcome
* **Levothyroxine** TOC
85
* Spontaneous remissions and exacerbations
* Can present with weight loss (despite increased appetite)
* TSH suppressed
* T4, FT4, T3, FT3 increased
dx?
tx?
hyperthyroidism
* BB
* Antithyroid agents, PTU(propylthiouracil), **methimazole 1st choice in kids**
* Surgery for extremely large goiters, very young or pregnant patients
86
cause of Neonatal Graves Disease?
management?
* Maternal TSH receptor antibodies cross placenta and stimulate excess thyroid hormone production in fetus
* Temp tx with BB, or steroids
* Usually **resolves** over 1-3 months
87
Child who is taller than his or her peers and is growing at a velocity that is within the normal range for bone age
Constitutional Tall Stature
88
what is Growth Hormone Excess (tall stature)
* **Very rare**
* Occurs before puberty and the fusion of the epiphysis of the long bones
* Excessive secretion of GH by somatotroph **adenomas** causes gigantism in the prepubertal child.
* It occurs when the epiphyses are not fused and high levels of IGF-1 stimulate excessive skeletal growth
* Rare, but treat the adenoma
89
Considered precocious if onset of secondary sexual characteristics occurs at or before age ___ (can be ___for African American Girls and Hispanic: not sure exactly why)
* 8
* 7
90
types of precocious puberty?
Central and Peripheral
91
1. Generally idiopathic, can also be result of CNS abnormality
1. **Activation of GnRH**, increase in gonadotropin release, increase in sex steroids
1. Events identical of normal puberty
what type of precocious puberty
central
92
1. ovarian or adrenal tumors, congenital adrenal hyperplasia, ovarian cysts, McCune-Albright Syndrome, exogenous estrogen
1. Independent of gonadotropin secretion
1. Present with markedly elevated estrogen levels and rapidly progressive pubertal changes
what type of precocious puberty
peripheral
93
* Breast development, pubic hair growth and menarche
* Order may vary
* Possible vaginal bleeding due to excess estrogen
* Increased body odor
* Accelerated growth and may be temporarily tall for age
dx? cause?
precocious puberty in girls
* Due to **skeletal maturation advancing** at a more rapid rate than linear growth, final adult stature may be compromised
94
w/u for precocious puberty in girls
1. **XR L hand and wrist**
1. **Estradiol level to rule out ovarian tumor/cyst** (will be elevated)
1. In central, basal serum concentrations of LH/FSH may be normal
- Maturity then has to be demonstrated by GnRH stimulation and LH response
- **In peripheral, LH and FSH are low** due to negative feedback response of high gonadal steroids
1. MRI if central to rule out CNS disorder
1. US of ovaries if possible peripheral
95
tx for precocious puberty in girls
1. refer
1. Leuprolide - (Lupron) GnRH analog
96
MOA of leuprolide
* GnRH analog
* **reduces gonadotropin secretion** by desensitizing pituitary receptors.
* Initially increases LH and FSH = temporary rise in testosterone and estrogen. Continued use suppresses ovarian and testicular steroid production by **lowering LH and FSH levels**, thereby decreasing testosterone and estrogen.
97
male precocious puberty is more likely to have what abnormality?
**CNS abnormalities**
Can have peripheral as well: adrenal tumor or CAH
98
precocious puberty in boys: s/s, w/u, tx?
* Increased growth rate and growth of pubic hair m/c presenting signs
* Elevated testosterone levels verify early pubertal status, but don’t differentiate the source
* LH response to GnRH stimulation testing
* Cranial MRI
* Refer, leuprolide
99
Benign premature adrenarche is manifested by ?
* early development of pubic hair, axillary hair, acne, and or body odor
* Characterized by normal linear growth and no bone age advancement
* We closely watch their growth curves for accelerated linear growth
* Timing of true puberty not affected
100
delayed puberty in girls is evaulated if there is no pubertal signs by age ? (breast/hair) or menache by age ?
13
16
101
Failure to complete pubertal development to tanner stage 5 within ? years of onset is considered delay
4 years
102
MCC of delayed puberty is ?
constitutional growth delay
103
Timing of puberty is related to ?, not the chronologic age
bone age
104
w/u for delayed puberty in girls
Bone radiograph, CBC, ESR, CMP, thyroid function studies, celiac screen, FSH/LH
105
tx for delayed puberty in girls
**low dosage estrogen**, later switch to OCP’s. Endocrine manages .
106
what is consiered delayed puberty in boys?
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
107
w/u for delayed puberty in boys
Radiograph of bone, testicular size/descent, LH/FSH levels
108
tx for delayed puberty in boys?
Low dose testosterone to “jump-start” development
109
Accumulation of galactose-1-phosphate in liver and renal tubules causes ?
hepatic parenchymal disease and renal Fanconi syndrome (cataracts of ocular lens, hepatic cirrhosis, and sepsis)
110
s/s of Galactosemia
Vomiting, jaundice (direct and indirect), hepatomegaly, and rapid onset of liver insufficiency
**Hepatic cirrhosis is progressive and death occurs from E. Coli sepsis**
111
w/u and tx for galactosemia
* Part of newborn screening ( heel stick after birth )
* Galactose free diet implemented as soon as diagnosis made
* Exclude milk
* Avoid galactose for life, and provide calcium replacement
112
untreated PKU can lead to ?
severe mental impairment , hyperactivity, seizures, a light complexion, and eczema
113
what is PKU and tx?
1. Decreased activity of phenylalanine hydroxylase, enzyme that converts phenylalanine to tyrosine
1. limit dietary phenylalanine intake to amounts that permit normal growth and development
- AA in meat, eggs , cheese, nuts and Aspartame .
