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Intelligence (IQ) Testing

Authors:
  • Massachusetts General Hospital; Harvard Medical School
Article

Intelligence (IQ) Testing

Abstract and Figures

Intelligence is a multifaceted construct that, for the purposes of this review, is operationalized as the standard IQ tests (eg, Wechsler Scales) used by schools and psychologists to measure cognitive functioning in a formal environment. Intelligence scores predict the ease with which people learn in formal situations, but do not necessarily predict success in life or occupations. Measures of intelligence can be affected by fluency of language, access to educational stimulation, educational resources, motivation, and emotional functioning. Variability in terms of subtest or factor score performance may be a sign of a learning disability, but a simple discrepancy between verbal and nonverbal abilities is not sufficient to diagnose a learning disability. Comparisons of IQs with tests of academic achievement frequently are used in diagnosing specific learning disabilities, but schools and diagnosticians are not bound by the discrepancy criteria. However, to diagnosis a specific learning disability, the possibility of a cognitive deficit needs to be ruled out, which typically is done through the administration of an IQ test. Overall, IQ tests are the most reliable and valid instruments used to measure a person's cognitive abilities, but they always should be interpreted within a conceptual framework that does not overstate its implications for the child.
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Answer Key: 1. E; 2. A; 3. C; 4. E; 5. D; 6. D; 7. A;
8. E; 9. C; 10. D; 11. C; 12. A; 13. B; 14. D; 15. C; 16. E;
17. A
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contents
Pediatrics in Review
Vol.27 No.11 November 2006
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Intelligence (IQ) Testing
Ellen B. Braaten, PhD,*
Dennis Norman, EdD
Author Disclosure
Drs Braaten and
Norman did not
disclose any financial
relationships relevant
to this article.
Objectives After completing this article, readers should be able to:
1. Define intelligence quotient (IQ) and what constitutes the “normal” range of IQ scores.
2. Describe the predictive validity of intelligence test scores.
3. Discuss the factors that may influence performance on intelligence tests.
4. Recognize the relationship between variability observed in factor scores and the
probability of the child having a learning or cognitive disability.
5. Describe how achievement tests are used in conjunction with IQ tests to determine
eligibility for a learning disability.
Introduction
Intelligence tests assess a person’s mental abilities and compare them with the abilities of
other people through the use of numerical scores. Although the term intelligence is used
as if there is agreement on what it means, in reality there is much debate as to how this term
should be and has been defined. For example, debate has surrounded whether intelligence
should be considered an inherent cognitive capacity, an achieved level of performance, or
a qualitative construct that cannot be measured. Psychologists have debated whether
intelligence is learned or inherited, culturally specific or universal, and one ability or several
abilities. While these debates are ongoing, evidence is increasing that traditional intelli-
gence tests measure specific forms of cognitive ability that are predictive of school
functioning, but do not measure the many forms of intelligence that are beyond these
more specific skills, such as music, art, and interpersonal and intrapersonal abilities. (1)
Despite these debates, most experts view intelligence as a person’s problem-solving
abilities, such as adapting to the environment and having vocabulary skills, higher-order
thinking (eg, decision making, reasoning skills, verbal and nonverbal problem-solving
skills), memory, and mental speed. More specifically, for the purpose of this article,
intelligence is discussed as it relates to a child’s score on the intelligence (IQ or “intelli-
gence quotient”) tests that are used most commonly to measure a person’s intelligence for
educational planning or neuropsychological assessment.
Intelligence Tests
Efforts to measure intelligence have long been a part of psychology, and despite contro-
versy over the meaning and scope of intelligence, an IQ score can provide meaningful data
about a child’s cognitive abilities if put within a conceptual framework that does not
overstate its meaning or implications for the child. Intelligence tests are the most studied
and, consequently, the most reliable, valid, and useful tests available for measuring specific
cognitive abilities. Within a particular IQ test, children tend to perform the same on items
designed to assess the same ability, which suggests internal consistency. The tests are
reliable because children generally receive the same score when they retake the same test
years later, although the reliability of the test usually increases with the age of the child.
Test validity is based on numerous studies that have found high correlations between
children’s IQ scores and their performance in school, achievement tests, and tests of
specific intellectual functioning (eg, measures of language, visual motor processing).
An IQ score reflects a child’s performance on an intelligence test relative to that of
children of the same age. In short, a child’s IQ score tells the extent to which his or her
*Psychologist, Massachusetts General Hospital; Assistant Professor, Harvard Medical School, Boston, Mass.
Chief of Psychology, Massachusetts General Hospital; Associate Professor, Harvard Medical School, Boston, Mass.
Article
cognition, language, learning
Pediatrics in Review
Vol.27 No.11 November 2006
403
performance on the test departs from average. The IQ
score represents a construct of “intelligence” that in-
cludes a combination of verbal and nonverbal processing
skills, such as vocabulary, information about the world,
reasoning, short-term memory, and speed of information
processing; these skills, together, are represented by the
IQ score. Nearly all comprehensive psychological evalu-
ations include some measure of intelligence. For exam-
ple, for a child who is being tested to confirm a diagnosis
of attention-deficit/hyperactivity disorder (ADHD), an
intelligence test can confirm that the child’s academic
difficulties do not indicate a specific cognitive weakness
or mild mental retardation.
Most intelligence tests assess a range of verbal, visual-
spatial, and problem-solving skills. Because they target
multiple cognitive skills, IQ tests are composed of
subtests that measure specific areas of functioning. Scores
on these subtests are combined to yield measures of
verbal and nonverbal problem-solving abilities, as well as
a full-scale IQ score. IQ scores are assumed to be nor-
mally distributed in the population, with most scores
falling in the middle of the distribution and fewer scores
falling at the upper and lower extremes (Figure). The
average IQ score on most IQ tests is 100, with a standard
deviation of 15. Most IQ scores (about 68%) fall within 1
standard deviation on either side of the mean (eg, be-
tween 85 and 115), and almost all scores (99% of popu-
lation) fall within 3 standard deviations above or below
the mean.
School-age children most frequently are tested with
the Wechsler Intelligence Scale for Children–Fourth
Edition (WISC-IV). The Wechsler Adult Intelligence
Scale, Third Edition (WAIS-III) is the test used most
frequently for adolescents ages 16 and older. The
Wechsler Preschool and Primary Scale of Intelligence
Third Edition (WPPSI-III) is used most frequently to
test children ages 2
1
2
to 6 years of
age. Each of these tests is composed
of subtests that measure a variety of
domains. The WISC-IV contains
15 subtests that are divided into 10
core subtests and 5 supplemental
(ie, optional) subtests, which form
four composites scales (referred to
as “factor scores”): Verbal Com-
prehension (verbal knowledge and
the ability to use verbal skills in new
situations), Perceptual Organiza-
tion (the ability to think about and
organize visual material without the
use of words), Working Memory
(the ability to hold information in memory to manipulate
it or perform calculations with it), and Processing Speed
(the speed at which one can process simple visual infor-
mation without making errors). The Table lists the
WISC-IV subtests and factor scores. Although there are
tests of infant “intelligence,” such as the Bayley Scales of
Infant Development, most tests for children younger
than age 3 years measure abilities, such as sensorimotor
development and early language skills, which are not
highly correlated with later IQ.
Predictive Validity of IQ
Intelligence tests are reasonably accurate at predicting
which children will be successful in school and which will
Figure.
Classification ratings for IQ ranges as they are distributed along the normal curve.
Table.
WISC-IV Factors and
Subtests
Verbal Comprehension Factor
Three Core Subtests: Similarities—Vocabulary—
Comprehension
Two Supplemental Subtests: Information—Word
Reasoning
Perceptual Reasoning Factor
Three Core Subtests: Block Design—Picture
Concepts—Matrix Reasoning
One Supplemental Subtest: Picture Completion
Working Memory Factor
Two Core Subtests: Digit Span—Letter-Number
Sequencing
One Supplemental Subtest: Arithmetic
Processing Speed Factor
Two Core Subtests: Coding—Symbol Search
One Optional Subtest: Cancellation
cognition, language, learning IQ testing
404 Pediatrics in Review
Vol.27 No.11 November 2006
have difficulty, with correlations between intelligence
tests and measures of educational achievement averaging
about 0.50. Thus, IQ tests are one of the best single
indices of how well a child will do in school. However,
IQ test scores are not the sole predictive factor of how a
person will perform in school and are not the definitive
indication of how a person eventually will function in
society because other variables, such as intellectual do-
mains not measured by a specific test, parenting, quality
of schooling, motivation, and exposure to culture and
books, also are important determinants of success in life.
Research has shown that IQ constancy increases with
age, although correlations tend to be slightly higher for
elementary students than for high school or college
students. Generally, the correlations with educational
achievement and IQ are highest for verbal subjects, such
as reading. In contrast, the predictive power of IQ test
scores before the first birthday are not very strong for
children who fall in the average to superior range, (2) but
the tests are fairly predictive (ranging in studies from
0.50 to 0.97) for children assessed
at lower IQ levels (ie, below IQs
of 50). (3)
Overall, the general rule of
thumb is that the older the child,
the more stable the IQ. By age 4
years, the correlation with IQ 12
years later is relatively high
(r0.77). (2) Although many
older children show little fluctua-
tion in their IQ scores, research
has indicated that a subset of younger children show wide
fluctuation in IQ scores. Finally, even older children may
show some fluctuations in scores in response to major
stressors such as a loss of a parent, divorce, or change in
schools. With these possible exceptions, by around age
10 years, IQ scores generally are relatively stable.
Factors That Influence Performance on IQ
Tests
IQ is influenced by genetic factors (eg, the child’s genetic
makeup), familial factors (eg, parents’ IQs and education
and quality of the home environment), educational fac-
tors (eg, quality of educational opportunities and teach-
ing), and other factors, such as the community in which
the child lives. Environmental influences on the develop-
ment of intelligence include access to stimulating or
enriching experiences, caregivers who help the child
learn problem-solving skills, access to books and sources
of knowledge, good nutrition, a high level of social
support, parental involvement in the child’s learning and
education, an enriched language environment, good
school attendance, good schools, and stable neighbor-
hoods. (4)
Cultural and ethnic differences in performance on
intelligence tests also have been documented. For exam-
ple, studies have indicated that the average scores on
standardized intelligence tests of children from African-
American and Latino families often are below those of
children from Caucasian families. However, the available
data do not support a genetic interpretation; (5) rather,
the differences likely reflect a cultural or language bias.
In addition to innate and background factors, an
almost limitless list of intervening variables can affect a
child’s performance on an IQ test. A qualified test ad-
ministrator attempts to minimize such variables as much
as possible, but influencing factors can include the loca-
tion of the evaluation (eg, noisy office), previous testing
experiences that may result in practice effects, the
examiner-examinee interaction, a negative stance on the
part of the child, peer-group pressure to fail, or poor
motivation. Other causes of poor performance can in-
clude limited hearing or visual acuity, a lack of profi-
ciency with the English language, situational stressors,
poor attentional skills, or acute emotional difficulties
such as depression or anxiety.
Discrepancies in IQ Test Score Patterns
In general, children’s factor scores on the WISC-IV
should be fairly similar; the more variability observed in
factor scores, the higher the probability that the child has
a learning or cognitive disability. Previous versions of the
WISC provided verbal and performance IQ scores in
addition to a full-scale IQ. Differences greater than 15
points between a child’s verbal comprehension and per-
ceptual reasoning scores are worthy of an explanation
and may be cause for concern because many learning
disabilities result in large verbal-performance splits on IQ
tests. For example, many children who have dyslexia have
lower verbal abilities compared with nonverbal abilities
because dyslexia is a verbally based learning disability.
....many
learning disabilities
result in large verbal-performance splits on
IQ tests.
cognition, language, learning IQ testing
Pediatrics in Review
Vol.27 No.11 November 2006
405
Children who have nonverbal learning disabilities, by
definition, have lower perceptual reasoning scores com-
pared with verbal comprehension abilities and frequently
have significantly weak processing speed scores, as well.
However, even a 15-point difference does not necessarily
indicate the presence of a learning disability. This is
because differences in styles of thinking and learning are
common and often are reflected in a child’s pattern of IQ
scores, such as in the case of a child who has superior
intellect and has a verbal comprehension index of
140 and a perceptual reasoning index of 120. That said,
if an extremely large (25-point) verbal comprehension-
perceptual reasoning split is present, and if one of these
scores is below the average range, psychologists fre-
quently refer the child to a neurologist or to a develop-
mental pediatrician to rule out the possibility of neuro-
logic impairment. Even if the difference between a child’s
factor scores on an IQ test is large, the discrepancy
should not be used alone to make a diagnosis of a
learning disability or to predict brain functioning with-
out substantial support from other test data and obser-
vations. Finally, when the differences between a child’s
WISC-IV factor scores are significant, the full-scale IQ
may not be a valid measure of the child’s level of overall
intellectual functioning because the IQ may represent a
forced “average” of very disparate skills.
Using Intelligence Tests to Evaluate Learning
Disabilities
To evaluate specific learning disabilities, such as a reading
disorder, disorder of written expression, or math disabil-
ity, IQ tests typically are used in conjunction with
achievement tests. Achievement tests are designed to
measure what a child has actually learned, including
mathematical problem-solving, reading, spelling, writ-
ing, or an understanding of science concepts. Most
achievement tests focus on a particular subject and mea-
sure a child’s learning with questions of varying difficulty.
The child’s score then either is compared with that of a
child of the same age or grade or measured against an
objective standard. When used to diagnose a specific
learning disability, a child’s academic achievement in one
or more areas is compared with his or her intellectual
abilities. If a child’s ability in one or more areas of
achievement, as measured on standardized tests, is sig-
nificantly lower than expectations based on age, educa-
tion, and intelligence, the probability is high that a
learning disability exists. However, these difficulties also
must impede the child’s ability in academic achievement
or activities of daily living. Also, if the child has a sensory
deficit, such as in visual perception, memory, or atten-
tion, the difficulties in math or writing need to be worse
than what would be expected with the sensory deficit
alone. For example, if a child who has ADHD has prob-
lems with math, the math difficulties must be worse than
what would be expected from a child who has attentional
difficulties. Thus, although IQ and achievement tests are
used frequently to diagnose a learning disability, a simple
discrepancy is not sufficient to make the diagnosis be-
cause other issues need to be eliminated.
In addition, the lack of a dis-
crepancy is not necessarily an indi-
cation that a learning disability
does not exist. This is particularly
true for the young child who may
exhibit early signs of a learning
disability, but who does not yet
lag behind to the extent that a
discrepancy exists. In these cases,
the pattern of scores on relevant
tests (eg, reading fluency, phonics
skills, reading comprehension, prereading skills) be-
comes primary in the diagnosis of a learning disability.
Because current federal law recognizes the shortcomings
of a discrepancy approach in determining a learning
disability, school districts are not bound by the discrep-
ancy criteria before children are found to be eligible for
special education services. However, current law also
states that the lack of achievement must not be due to
mental retardation; a visual, hearing, or motor impair-
ment; emotional disturbance; or environmental disad-
vantage. Thus, intelligence tests typically are given to
rule out the possibility that a cognitive deficit underlies
the child’s difficulties with academic skills.
Summary
Intelligence is a multifaceted construct that, for the
purposes of this review, is operationalized as the standard
IQ tests (eg, Wechsler Scales) used by schools and psy-
chologists to measure cognitive functioning in a formal
environment. Intelligence scores predict the ease with
Comparisons
of IQs with tests
of academic achievement frequently are used
in diagnosing specific learning disabilities.
cognition, language, learning IQ testing
406 Pediatrics in Review
Vol.27 No.11 November 2006
which people learn in formal situations, but do not
necessarily predict success in life or occupations. Mea-
sures of intelligence can be affected by fluency of lan-
guage, access to educational stimulation, educational
resources, motivation, and emotional functioning. Vari-
ability in terms of subtest or factor score performance
may be a sign of a learning disability, but a simple
discrepancy between verbal and nonverbal abilities is not
sufficient to diagnose a learning disability. Comparisons
of IQs with tests of academic achievement frequently are
used in diagnosing specific learning disabilities, but
schools and diagnosticians are not bound by the discrep-
ancy criteria. However, to diagnosis a specific learning
disability, the possibility of a cognitive deficit needs to be
ruled out, which typically is done through the adminis-
tration of an IQ test. Overall, IQ tests are the most
reliable and valid instruments used to measure a person’s
cognitive abilities, but they always should be interpreted
within a conceptual framework that does not overstate its
implications for the child.
References
1.
Gardner H. Frames of Mind: The Theory of Multiple Intelligences.
New York, NY: Basic Books; 1983
2.
Neisser U, Boodoo G, Bouchard TJ Jr, Boykin AW, Brody N, Ceci
SJ. Intelligence: knowns and unknowns. Am Psychol. 1996;51:77–101
3.
Satler JM. Assessment of Children: Behavioral and Clinical Applica-
tions. 4th ed. La Mesa, Calif: Jerome M. Sattler, Publisher, Inc; 2002
4.
Spitz HH. Commentary on the contributions to this volume. In:
Detterman D, ed. Current Topics in Human Intelligence: Vol. 5. The
Environment. Norwood, NJ: Ablex; 1996:173–177
5.
Brooks-Gunn J, Klebanov PK, Duncan GJ. Ethnic differences in
children’s intelligence test scores: role of economic deprivation,
home environment, and maternal characteristics. Child Devel.
1996;67:396408
Suggested Reading
Braaten E, Felopulos G. Straight Talk About Psychological Testing
for Kids. New York, NY: The Guilford Press; 2004
Flanagan DP, Kaufman AS. Essentials of WISC-IV Assessment. New
York, NY: John Wiley & Sons; 2004
Hebben N, Milberg W. Essentials of Neuropsychological Assessment.
New York, NY: John Wiley & Sons; 2002
Lezak MD, Howieson DB, Loring DW, Hannay HJ, Fischer JS.
Neuropsychological Assessment. 4th ed. Oxford, England: Oxford
University Press; 2004
Obrzut JE, Hynd GW. Neuropsychological Foundations of Learning
Disabilities: A Handbook of Issues, Methods and Practice. San
Diego, Calif: Academic Press; 1996
Snyder PJ, Nussbaum PD. Clinical Neuropsychology: A Pocket
Handbook for Assessment. Washington, DC: American Psycho-
logical Association; 1998
Spreen O, Strauss E. A Compendium of Neuropsychological Tests:
Administration, Norms and Commentary. Oxford, England:
Oxford University Press; 1998
Wechsler D. Manual for the Wechsler Intelligence Scale for
Children–Revised. New York, NY: The Psychological Corpora-
tion; 1974
Wechsler D. WAIS-R Manual: Wechsler Adult Intelligence
Scale–Revised. New York, NY: The Psychological Corporation;
1981
cognition, language, learning
IQ testing
Pediatrics in Review
Vol.27 No.11 November 2006
407
PIR Quiz
Quiz also available online at www.pedsinreview.org.
1. Intelligence, as measured by IQ testing, is:
A. Independent of cultural background.
B. Invariant over time.
C. Non-normally distributed.
D. Not assessable in children younger than age 6 years.
E. Predictive of school performance.
2. An 8-year-old boy is being evaluated for his poor academic performance in third grade. Results from his
WISC-IV reveal:
Full Scale IQ: 100
Verbal Comprehension Factor Score: 85
Perceptual Reasoning Factor Score: 115
Working Memory Factor Score: 95
Processing Speed Factor Score: 105
These test findings are
most
consistent with a diagnosis of:
A. Dyslexia.
B. Expected variation.
C. Isolated attention-deficit disorder.
D. Math disability.
E. Mental retardation.
3. A 6-year-old girl whose teachers are concerned about her ability to keep up with her classmates is found
to have a WISC-IV IQ of 70 with a verbal comprehension factor score of 65 and a perceptual reasoning
factor score of 75. These results are
most
supportive of a diagnosis of:
A. Average intelligence.
B. Dyslexia.
C. General cognitive deficit.
D. Isolated attention-deficit disorder.
E. Isolated nonverbal learning disability.
4. An 8-year-old boy without evidence of sensory deficit is having difficulty reading at grade level. In
addition to a significant verbal-performance split on IQ testing, formal diagnosis of a reading disorder
requires:
A. A full-scale IQ of at least 110.
B. A home visit.
C. Grade retention.
D. Neurologic referral.
E. Standardized achievement testing.
cognition, language, learning IQ testing
408 Pediatrics in Review
Vol.27 No.11 November 2006
Breastfeeding:
The Essential Principles
Latha Chandran, MBBS,
MPH,* Polina Gelfer, MD
Author Disclosure
Drs Chandran and
Gelfer did not
disclose any financial
relationships relevant
to this article.
Objectives After completing this article, readers should be able to:
1. Understand the physiology of lactation.
2. Discuss the biologic specificity of human milk.
3. Delineate the benefits of breastfeeding for the infant, the mother, and the community.
4. Know relative and absolute contraindications to breastfeeding.
5. Describe current recommendations for breastfeeding.
Introduction
Breastfeeding practice is the biologic norm for Homo sapiens and dates back some 40,000
years. Until the last several decades, breastfeeding was the norm, and wet-nursing was the
only alternative to allow infants to survive. Although pediatricians overwhelmingly agree
that breastfeeding is best for babies, in the United States today, only 68% of all new
mothers even attempt it, and at least 50% abandon it quickly. The United States Public
Health Service Healthy People 2010 Initiative calls for an increase in the rate of breast-
feeding to 75% at birth, 50% at age 6 months, and 25% at 1 year of age (Figure). The
presence or absence of breastfeeding affects the economics of the family and the commu-
nity. Multiple studies confirm that the annual cost to the United States health care system
from women not breastfeeding is several billion dollars. Promoting breastfeeding can
decrease costs for public health programs such as The Special Supplemental Nutrition
Program for Women, Infants, and Children, parental employee absenteeism as a result of
decreased infant illness, environmental burden for disposal of formula cans and bottles, and
energy demands for production and transport of artificial feeding products.
Physiology of Lactation
During pregnancy, the breast grows larger, the diameter of the areola increases, pigmen-
tation increases, the nipples become more erect, and the veins become more prominent.
Various hormones stimulate breast growth: prolactin and placental lactogen stimulate
nipple and areolar growth; estrogen facilitates the proliferation and differentiation of the
ductal system; and progesterone promotes an increase in size of the lobes, lobules, and
alveoli. During the first half of pregnancy, the ductal tree grows and proliferates, and
additional lobules form. The second half of pregnancy is characterized by acceleration of
secretory activity and distention of alveoli from accumulating colostrum. After 16 weeks of
pregnancy, lactation occurs, even if the pregnancy does not progress.
The volume of milk secreted by the mammary cells remains small until after the infant
is born. After delivery of the placenta, serum progesterone and estrogen concentrations
fall, and negative feedback by these hormones on pituitary prolactin release is lost.
Prolactin concentrations rise, leading to increased milk synthesis. When the neonate begins
suckling, the posterior pituitary hormone oxytocin is released. Oxytocin causes the
milk-ejection reflex or letdown, a contraction of the myoepithelial cells surrounding the
alveoli necessary for the ejection of milk.
The rate of milk synthesis after each breastfeeding episode varies and is related to the
degree of emptiness or fullness of the breast; an emptier breast makes milk faster than a
fuller one. Thus, breastfeeding is not a major factor for the initiation of lactation, but it is
essential for the continuation of lactation. Lactogenesis also is susceptible to outside
*Editorial Board.
Assistant Professor of Clinical Pediatrics, State University of New York at Stony Brook, Stony Brook, NY.
Article
nutrition
Pediatrics in Review
Vol.27 No.11 November 2006
409
influence. Certain conditions, such as type 1 diabetes
mellitus, obesity, polycystic ovary syndrome, placental
retention, and stress, can delay or diminish lactogenesis.
The reasons for this delay are not clear. Human milk
production is related to an infant’s demand. Infants have
the ability to self-regulate their milk intake.
Composition of Human Milk
Human milk is unique and species-specific. All substitute
feeding preparations differ markedly from it, making
human milk superior for infant feeding. Human milk is
rich in proteins, nonprotein nitrogen compounds, lipids,
oligosaccharides, vitamins, and minerals. In addition, it
contains hormones, enzymes, growth factors, and many
types of protective agents.
Colostrum
The first milk secreted by the postpartum woman is
colostrum. Human colostrum differs from mature milk.
The energy value is about 67 kcal/100 mL compared
with the 75 kcal/100 mL for mature milk. The volume
varies with the parity of the mother and the number of
feedings. The concentrations of sodium, potassium, and
chloride are greater than those of mature milk. Protein,
fat-soluble vitamins, and minerals are present in greater
percentages than in transitional and mature milk. The
high level of antibodies may provide protection against
the bacteria and viruses that are present in the birth canal.
Colostrum facilitates the passage of meconium and es-
tablishment of Lactobacillus bifidus flora in the infant’s
gut.
Mature Milk
Mature human milk contains fat, carbohydrates, and
protein as substrates for infant nutrition. The fat of
human milk provides about 50% of its calories. Triglyc-
erides are the primary constituents of the fat. The lipid
fraction provides essential fatty acids. Human milk is
rich in long-chain polyunsaturated fatty acids, including
docosahexanoic acid and arachidonic acid, which are
associated with higher visual acuity and cognitive ability
in the infant. The fats of human milk and cow milk are
qualitatively different, with human milk containing more
of the absorbable triglyceride olein and cow milk con-
taining more volatile fatty acids (butyric, capric, caproic,
and caprylic). These differences may result in the preterm
or sick infant possibly developing steatorrhea after in-
gesting cow milk.
Lactose is the primary carbohydrate in human milk,
although small quantities of galactose and fructose also
are present. Lactose enhances calcium absorption and is
metabolized readily to galactose and glucose, which sup-
ply energy to the infant. Human milk consists predomi-
nantly of whey proteins; cow milk mostly has casein.
Whey protein is composed of five major components:
alpha-lactalbumin, serum albumin, lactoferrin, immuno-
globulins, and lysozyme. The latter three elements play
important roles in immunologic defense. Human milk
also contains free amino acids, including essential amino
acids, as well as nucleotides. Table 1 lists comparisons
between human milk, cow milk, and some infant formu-
las. About one third of infants who are allergic to cow
milk protein may be allergic to soy protein, as well; in
such cases, protein hydrolysate formulas are used. The
standard caloric content for all formulas is 20 kcal/oz.
The amount of vitamins and micronutrients in human
milk varies, depending on the diet and genetic differ-
ences of mothers. Generally, as lactation progresses, the
level of water-soluble vitamins in human milk increases
and the level of fat-soluble vitamins declines. Human
milk is a good source of vitamin A and vitamin E, but has
very little fat-soluble vitamin D. The risk of vitamin D
deficiency rickets is greatest for dark-skinned children
living in inner-city areas and for infants of solely breast-
feeding mothers eating strict vegetarian diets. All breast-
fed infants should receive 200 IU of oral vitamin D drops
daily. (1)
Human milk contains small amounts of vitamin K.
A few days after birth, enteric bacteria produce sufficient
quantities of the vitamin, but until ingestion of copious
Figure.
Breastfeeding rates in 2003 and United States
Healthy People 2010 breastfeeding objectives. From Centers
for Disease Control and Prevention breastfeeding national
immunization data.
nutrition breastfeeding
410 Pediatrics in Review
Vol.27 No.11 November 2006
Table 1.
Composition of Human Milk, Cow Milk, and Infant Formulas
Ingredients Human Milk Cow Milk
Cow Milk
Protein-based
Formula
Soy Protein-based
Formula Protein Hydrolysate Formula
Carbohydrate
(g/dL)
Lactose
7.0
Lactose
4.8
Lactose
Corn syrup
3.6 to 3.7
Sucrose
Corn syrup
3.6
Sucrose
Corn syrup
3.4 to 3.7
Protein
(g/dL)
Human milk protein,
whey: casein ratio
of 75:25
Total: 1.1
Cow milk protein, whey:
casein ratio of 22:78
Total: 3.3
Nonfat milk
Demineralized
whey
1.4
Soy isolate
Methionine
1.8 to 2.0
Cow milk protein hydrolyzed
to reduce allergenicity
1.9
Fat (g/dL) Human milk fat
Contains more
absorbable
triglyceride
3.8
Butterfat
Contains more volatile
fatty acids
3.7
Soy oil
Coconut oil
Palm oil
3.6 to 3.7
Palm olein
Soy oil
Coconut oil
3.6 to 3.7
Medium-chain triglyceride
oil
Soy oil
Coconut oil
3.4 to 3.7
Calcium
(mg/L)
280 1,226 530 710
Higher calcium content
due to inhibition of
absorption by
phytates
640 to 710
Phosphorus
(mg/L)
147 956 284 to 360 507 to 560 430 to 507
Iron (mg/L) Vitamin C and
lactose facilitate
absorption
0.4
0.5 5.0 12 12
Suggested
uses
Preferred for all
infants
Children older than 1
year of age who have
normal gastrointestinal
tract
Infants who
have
normal
gastrointestinal
tract but
cannot be
breastfed
Infants who have cow
milk allergy (30%
may have cross-
reactivity), lactose
malabsorption,
galactosemia
Infants who have food
allergies or underlying
gastrointestinal damage
nutrition breastfeeding
Pediatrics in Review
Vol.27 No.11 November 2006
411
amounts of human milk promotes gastrointestinal (GI)
bacterial colonization, neonates are susceptible to vita-
min K deficiency-induced hemorrhagic disease. To pre-
vent this condition, 1 mg of vitamin K is administered
routinely intramuscularly to infants immediately after
birth. Mothers consuming strictly vegan diets may pro-
duce milk that is deficient in vitamin B12, as well. The
total mineral content in human milk is higher in the first
days after birth and slowly decreases throughout lacta-
tion. Although human milk has only a small amount of
iron, breastfed babies rarely develop iron deficiency be-
cause iron absorption is facilitated by the high lactose and
vitamin C concentrations of human milk.
Several anti-inflammatory and protective factors have
been identified in human milk and their functions delin-
eated (Table 2).
Benefits of Breastfeeding
Child Health Benefits
Human milk provides optimal nutrition to the infant,
facilitating adequate growth and development. Research
studies among term and preterm infants have shown
significant improvements in developmental outcomes of
breastfed infants compared with formula-fed infants. In
addition, growing evidence suggests small, but signifi-
cant, cognitive benefits for breastfeeding. When tested at
7 to 8 years of age, children who were breastfed as infants
for 8 months or longer had mean verbal intelligence
quotient (IQ) scores 6 points higher and performance
IQ scores nearly 4 points higher
than those who did not receive hu-
man milk, after statistical control of
social and perinatal factors associ-
ated with breastfeeding such as
birthweight, multiplicity, gesta-
tional age, maternal age, education,
and family income. (2)
Anti-infective Properties of
Human Milk
Human milk provides protection
against disease. The high concen-
trations of secretory immunoglob-
ulin (Ig)A, enzymes, other Igs, and
leukocytes provide broad-spectrum
protection against infections and
chronic conditions. Breastfeeding
helps to prevent infantile diarrhea
and other GI infections. It is now
well established that ingested anti-
bodies from human milk can pro-
vide local GI immunity against specific enteric patho-
gens, including Campylobacter jejuni, Clostridium
difficile, Escherichia coli, Giardia lamblia, rotavirus, Sal-
monella typhimurium, Shigella sp, and Vibrio cholerae.
The degree of protection is related to the amount of
human milk an infant receives; exclusive breastfeeding is
associated with greater protection.
Studies of the protective effects of breastfeeding
against respiratory tract infections offer conflicting re-
sults. Several studies suggest that breastfeeding helps to
prevent respiratory illnesses; (3) others indicate little
protection. There is, however, strong evidence that hu-
man milk protects against respiratory syncytial virus in-
fection. (4) Similar protection has been established
against Haemophilus influenzae bacteremia and menin-
gitis as well as pneumonia caused by Streptococcus pneu-
moniae. Breastfeeding also provides protection against
ear infections and atopic disorders.
Protection from Chronic Disease
Breastfeeding contributes to the prevention of diabetes,
celiac disease, childhood cancer, sudden infant death
syndrome, obesity, and many other health problems.
The longer the duration of breastfeeding, the greater is
its protective effect. The protection by human milk
against illness extends beyond infancy to childhood and
adulthood. Exclusive breastfeeding during the first
months after birth is associated with lower asthma rates
Table 2. Major Protective and Anti-inflammatory
Factors in Human Milk
Factors Function
Immunoglobulins
Secretory IgA, IgM, IgG
Generate immune response to specific antigens
Lactoferrin Antibacterial effect, especially against
Escherichia
coli,
inhibition of complement, carries iron
Lysozyme Bactericidal and anti-inflammatory
Casein Inhibits microbial adhesion to mucosal membranes
Lipids Protect against enveloped viruses, anti-infective
efforts
Prostaglandins Cytoprotective
Cytokines Activate the immune system
Glycoconjugates Antiviral, antibacterial protection
Phagocytes Absorb pathogens, release IgA
Lymphocytes Essential for cell-mediated immunity; antiviral
activity
Memory T cells give long-term protection
Prolactin Enhances development of B and T lymphocytes
Stimulates proliferation of intestinal mucosa
Human growth factors Mucosal barrier to antigens
nutrition breastfeeding
412 Pediatrics in Review
Vol.27 No.11 November 2006
during childhood. (5) Human milk
also may protect preterm infants
against necrotizing enterocolitis.
Benefits for the Mother
Breastfeeding and lactation de-
crease postpartum bleeding and
promote more rapid uterine involu-
tion. They decrease the risk of
breast and ovarian cancer and pos-
sibly decrease the risk of hip frac-
tures and osteoporosis in the post-
menopausal period. They definitely
promote development of bonding
and attachment between the
mother and the infant.
Contraindications to
Breastfeeding
Medical Disorders
Breastfeeding is optimal for infants, but there are a few
conditions when breastfeeding is not in the baby’s best
interest. Breastfeeding is contraindicated for infants who
have classic galactosemia, an autosomal-recessive disor-
der in which the liver enzyme galactose-1-phosphate
uridyltransferase is absent. Affected infants are unable to
metabolize lactose or galactose, leading to liver failure
and mental retardation. When this diagnosis is suspected,
abrupt weaning from breastfeeding is necessary.
Mothers who have active untreated tuberculosis dis-
ease should be separated from their infants and advised to
suspend breastfeeding until the mother and infant are
receiving appropriate antituberculosis therapy. The
mother should wear a mask and adhere to infection
control measures. Separation is no longer necessary once
the infant is started on isoniazid. However, if multidrug-
resistant tuberculosis is suspected, the infant should re-
main separated from the mother even after he or she is
started on isoniazid. (6)
Viruses
Human milk can transmit certain viral diseases. The
viruses that can be identified in human milk and their
impact on breastfeeding are listed in Table 3.
The World Health Organization recommends avoid-
ance of all breastfeeding by human immunodeficiency
virus (HIV)-infected mothers when replacement feeding
is acceptable, feasible, affordable, sustainable, and safe.
Women in developed countries who are HIV-positive
should not breastfeed their offspring, but in the develop-
ing world when replacement feeding is not feasible or
safe, exclusive breastfeeding is recommended during the
first postnatal months. (7) The exact risk of transmission
is unknown, but risk is probably higher in mothers who
have higher viral loads.
The human lymphotropic virus HTLV-1, associated
with adult T-cell leukemia and lymphoma, is uncommon
in the United States. HTLV-2 is a related retrovirus.
Mothers who are HTLV-1- or -2-positive should not
breastfeed.
Women who have herpetic lesions on their breasts
should refrain from breastfeeding. In the absence of
breast lesions, the newborn can breastfeed and room-
in, but scrupulous hand washing and covering of any
lesions is recommended to prevent possible cross-
contamination.
Medications
Almost all drugs are excreted into human milk to some
degree, but only a very few are unsafe for the infant.
Table 4 lists medications that are contraindicated when
breastfeeding. Mothers who are receiving radioactive
isotopes, antimetabolites, or chemotherapeutic agents
should not breastfeed until the medications no longer are
excreted in the milk. Individual drugs that preclude
breastfeeding include lithium, atropine, chlorampheni-
col, cyclosporine, bromocriptine, ergot alkaloids, and
iodides. Long-term maternal ingestion of drugs that
have sedative effects can cause sedation in breastfeeding
infants and withdrawal symptoms on interruption of
breastfeeding. (8) Although most drugs can be used
safely by breastfeeding women, physicians should make a
Table 3. Viruses Identified in Breast Milk and
Impact on Breastfeeding
Virus Impact on Breastfeeding
HIV-1, HIV-2 Contraindicated
HTLV-1, HTLV-2 Contraindicated
Hepatitis B virus (HBV) Not contraindicated, especially if infant receives HBV
vaccine and HBV immune globulin
Hepatitis C virus Not contraindicated. Nipple cracks or fissures may pose
a risk for transmission.
Herpes simplex virus Contraindicated only if active breast lesions are present
Cytomegalovirus Not contraindicated. Some experts recommend stopping
breastfeeding of preterm and immunosuppressed
infants if mother becomes infected during lactation.
Rubella virus Not contraindicated
West Nile virus Not contraindicated
HIVhuman immunodeficiency virus, HTLVhuman T-cell lymphoma/leukemia virus
nutrition breastfeeding
Pediatrics in Review
Vol.27 No.11 November 2006
413
risk versus benefit assessment prior to the use of any
drugs during lactation. (8)
Conditions That Are Not Contraindications to
Breastfeeding
Breastfeeding is not contraindicated for infants born to
mothers who are hepatitis B surface antigen-positive. All
such infants should receive hepatitis B immunoglobulin
(HBIG) and hepatitis B virus (HBV) vaccine within
12 hours after birth. Multiple studies have shown that
breastfeeding does not appear to increase the rate of
infection among neonates; moreover, in areas of high
HBV prevalence, lack of breastfeeding places the infant
at greater risk of contracting the disease.
Maternal hepatitis C virus (HCV) infection is not a
contraindication for breastfeeding. (1) The overall rate of
maternal-infant HCV transmission among breastfed in-
fants is similar to that of formula-fed infants. It has been
suggested, but not shown, that the presence of cracks or
fissures in the nipple poses a risk for transmission of
HCV. Some experts believe that mothers should be
counseled about potential risks.
Although transmission of cytomegalovirus (CMV)
through breastfeeding has been established, no serious
illness or clinical symptoms in neonates fed CMV-
positive human milk have been reported. Breastfeeding is
not contraindicated for healthy term infants whose
mothers have CMV infection. However, decisions about
breastfeeding of preterm and immunosuppressed infants
should be made with consideration of the potential ben-
efits of human milk versus the risk of CMV transmission.
Freezing and pasteurization can decrease the CMV viral
load in milk significantly.
Maternal tobacco smoking is not a contraindication
to breastfeeding. Clinicians, however, should advise
mothers to avoid smoking within
the home and to make every effort
to wean themselves from tobacco.
Women who have a history of
breast reduction are at risk of insuf-
ficient lactation. Those diagnosed
with breast cancer can continue
breastfeeding. However, when che-
motherapy begins, the infant must
be weaned. Inverted nipples should
not impede breastfeeding. Usually
the degree of inversion lessens as
breastfeeding continues. Women
who have acute mastitis should
continue frequent breastfeedings.
Breastfeeding Considerations in Normal and
Special Situations
American Academy of Pediatrics (AAP)
Recommendations on Breastfeeding for
Healthy Term Infants
In its most recent recommendations, the AAP has taken
a very strong position on promoting breastfeeding. (1)
Recommendations include exclusive breastfeeding for
the first 6 postnatal months and continuation of breast-
feeding for at least the first year and beyond, as long as
desired by mother and child. Complementary foods rich
in iron and supplementary fluoride should be introduced
beginning around 6 months of age. The AAP suggests
enthusiastic support of breastfeeding by all health-care
professionals as well as recognition and sensitivity to
cultural differences regarding breastfeeding attitudes and
practices. Pediatricians should recommend human milk
for all infants in whom breastfeeding is not contraindi-
cated. When direct breastfeeding is not possible, ex-
pressed human milk should be provided. Education of
both parents before and after delivery is an essential
component of successful breastfeeding.
Healthy infants should be in direct skin-to-skin con-
tact with their mothers immediately after birth. After the
recovery period, mother and infant should sleep in prox-
imity to each other to facilitate breastfeeding. Water and
other fluids should not be given to breastfeeding infants
unless specifically ordered by the physician.
During the first weeks of breastfeeding, the infant
should have 8 to 12 feedings every 24 hours. After
breastfeeding is well established, the frequency of feed-
ing may decline to about eight times per 24 hours. The
mother should offer both breasts at each feeding for as
long as the infant remains at the breast. In the early weeks
after birth, infants should be aroused to feed if 4 hours
Table 4. Medications Contraindicated During
Breastfeeding
Drug/Class Possible Adverse Effects in Infant
Antineoplastic agents Fetal death, congenital anomalies, organ system
toxicity
Immunosuppressants Potential suppression of the immune system
Lithium High potential for toxicity
Chloramphenicol Blood dyscrasias, aplastic anemia
Ergot alkaloids Ergotism poisoning
Radiopharmaceuticals Potential toxicity; brief to full interruption of
breastfeeding recommended
Bromocriptine Suppresses prolactin secretion; hyperprolactinemic
mothers taking drug can breastfeed successfully
Iodides Thyroid suppression
nutrition breastfeeding
414 Pediatrics in Review
Vol.27 No.11 November 2006
have passed since the last feeding. It is recommended
that trained medical personnel in the hospital evaluate
breastfeeding at least twice daily, including observation
of position, latch, and milk transfer.
Follow-up of breastfeeding infants after hospital dis-
charge is critically important. The AAP recommends
early follow-up within 2 days of discharge for any infant
sent home when he or she is younger than 72 hours of
age. An infant who has many risk factors might need to
be seen earlier (within 24 h of discharge). The health-
care professional should evaluate the infant’s weight,
hydration status, and the presence or absence of jaun-
dice. Markers of successful breastfeeding are listed in
Table 5. The next ambulatory visit can be scheduled at
2 to 3 weeks of age so the physician can monitor weight
gain and provide additional support. Exclusive breast-
feeding is one of several risk factors for worsening hyper-
bilirubinemia in the infant.
Nursing While Pregnant
Pregnancy can occur while lactating. There is no need to
wean the first infant from the breast. It is possible to
lactate throughout pregnancy and to have both infants at
the breast postpartum. This feeding pattern can be used
without any apparent ill effects on the nourishment of
the new infant. The mother should be provided with
psychological support as well as adequate rest and nour-
ishment.
Breastfeeding Newborns Who Have Special
Needs
PRETERM OR ILL INFANTS. In this situation, breast-
feeding may be delayed for days or weeks. Medical per-
sonnel should advise mothers to begin expressing milk
within hours of giving birth. Mother-infant skin-to-skin
contact and direct breastfeeding should be encouraged as
early as possible. If the respiratory status of the infant
precludes direct breastfeeding, gavage feedings with ex-
pressed human milk may be considered. Fortified human
milk is recommended for many low-birthweight infants.
Banked human milk can be a suitable alternative for
infants whose mothers are unable or unwilling to breast-
feed.
MULTIPLE INFANTS. Most mothers of multiple infants
are capable of producing most or all of the milk required
for two to four infants. These mothers need substantial
help and support with early feedings. Simultaneous feed-
ing saves time, but it is important to assess each infant
initially at the breast separately.
DOWN SYNDROME. Hypotonia, abnormal anatomic
structure of the oral cavity, and significant congenital
heart disease may affect breastfeeding of infants who have
Down syndrome. Large, flattened tongues cause diffi-
culty latching on. In addition, affected infants may have
difficulty swallowing and are at increased risk of pulmo-
nary aspiration. Feeding usually improves as the infant’s
muscle tone improves. Despite these challenges, the
prevalence of breastfeeding among patients who have
Down syndrome is similar to that of the general popula-
tion. Very close monitoring of growth and development
is imperative for children who have Down syndrome and
are breastfed exclusively.
CLEFT LIP AND PALATE. Studies reveal that approxi-
mately 25% of infants who have cleft lip and palate have
early feeding problems, leading to poor weight gain over
the first few postnatal months. Patients who have isolated
cleft lip have better feeding records and faster weight
gain compared with those who have isolated cleft palate.
Common feeding problems include inability to generate
negative sucking pressure in the oral cavity, excessive air
intake, nasal regurgitation, and fatigue. However, for
patients who have cleft lip/palate, breastfeeding offers
several benefits over bottle-feeding. It allows a better seal
due to pliability of the human breast, promotes develop-
ment of oral and facial muscles, and decreases the risk of
ear and respiratory infections. After repair of the cleft,
experts recommend resumption of nursing as early as
possible, if not in the immediate postoperative period.
Practical Issues in Breastfeeding
Guidelines for Collection and Storage of
Expressed Human Milk
It is very important to maintain cleanliness to minimize
bacterial contamination in the process of collection. The
Table 5. Markers of Successful
Breastfeeding
7% or less weight loss in first few days after birth
Return to birthweight by at least 2 weeks
Weight gain per day of 20 to 30 g during first 3
postnatal months
Lactation established in mother by 2 to 4 days after
birth
At least eight breastfeeding events every 24 hours
Baby is latching onto breast easily
Three to six stools and four to six voids by 5 to 7
days of age
nutrition breastfeeding
Pediatrics in Review
Vol.27 No.11 November 2006
415
mother should be instructed in washing her hands, her
breasts, and pumping equipment. Many hospitals, phar-
macies, and local rental companies have electric pumps
that are very time-efficient. Human milk can be stored in
either glass or plastic containers. Glass or flexible bottles
(polypropylene containers) have significant advantages in
maintaining the stability of the components of human
milk, particularly IgA.
Freshly expressed human milk can be used safely for
up to 8 hours at room temperature, but the potential for
contamination is greater when milk is not refrigerated.
Various studies support storing milk in a refrigerator
(4°C/39°F) for up to 5 days without increasing the risk
of bacterial contamination and to facilitate retaining
some cell viability. Because refrigerated milk separates,
the container should be shaken vigorously before feeding
the baby. Milk can be kept for 3 months in a self-
defrosting freezer and for 12 months in a freezer that has
no defrost cycle that maintains a temperature of 0°F
(20°C). The milk should be thawed in the refrigerator
and used within 24 hours. Defrosting in the microwave is
not recommended.
Banking Human Milk
The Human Milk Banking Association of North America
was established in 1985. It supervises collection, screen-
ing, processing, storing, and distribution of donated
human milk for infants who are prescribed human milk.
Donors are screened carefully and are taught how to
express their milk by using sanitary collecting methods.
Donated milk is treated by heat to destroy any bacteria or
viruses. Common reasons for prescribing donor milk
include allergies and formula intolerance, prematurity,
failure to thrive, immunologic deficiencies, and postop-
erative nutrition.
Conclusion
Breastfeeding ensures the best possible physical health as
well as developmental and psychosocial outcomes for
infants. Overwhelming evidence supports strong recom-
mendations to increase and sustain breastfeeding in the
population. The biologic and immunologic markers in
human milk, such as the specific antibodies and cellular
factors as listed in Table 2, are very important to infant
health, as are the various nutrients. There are very few
absolute contraindications to breastfeeding. It is imper-
ative that pediatricians and other medical care practitio-
ners have an in-depth understanding of the innumerable
benefits of breastfeeding. Breastfeeding should become a
cultural norm among all women, regardless of education
and socioeconomic status.
References
1.
AAP Section on Breastfeeding Policy Statement. Breastfeeding
and the use of human milk. Pediatrics. 2005;115:496–506
2.
Horwood LJ, Darlow BA, Mogridge N. Breast milk feeding and
cognitive ability at 7– 8 years. Arch Dis Child Fetal Neonatal Ed.
2001;84:F23–F27
3.
Lopez-Alarcon M, Villalpando S, Fajardo A. Breastfeeding low-
ers the frequency and duration of acute respiratory infection and
diarrhea in infants under six months of age. J Nutrition. 1997;127:
436443
4.
Holberg CJ, Wright AL, Martinez FD, Ray CG, Taussig LM,
Lebowitz MD. Risk factors for respiratory syncytial virus-associated
lower respiratory illnesses in the first year of life. Am J Epidemiol.
1991;133:1135–1151
5.
Oddy WH, Peat JK, de Klerk NH. Maternal asthma, infant
feeding and the risk of asthma in childhood. J Allergy Clin Immu-
nol. 2002;110:65– 67
6.
American Academy of Pediatrics, Committee on Infectious Dis-
eases. Management of newborn infant whose mother has tubercu-
losis. 2006 Red Book, Report of the Committee on Infectious Diseases.
27th ed. Elk Grove Village, Ill: American Academy of Pediatrics;
2006:694695
7.
World Health Organization. New data on the prevention of
mother to child transmission of HIV and their policy implications.
Conclusions and recommendations. Technical consultation on be-
half of the UNFPA/ UNICEF/WHO/UNADIS Inter-Agency
Task Team on Mother-Child Transmission of HIV. Geneva, Swit-
zerland: October 2000. Available at: http://www.who.int/
reproductive-health/stis/mtct/kesho_bora.htm. Accessed 8/26/06
8. Hale T. Medications and Mother’s Milk. 11th ed. Amarillo, Tex:
Pharmasoft Publishing; 2004
Suggested Reading
Cahill JB, Wagner CL. Challenges in breastfeeding. Contemp Pedi-
atr. 2002;19:94 –138
Churchill RB, Pickering LK. The pros (many) and cons (a few) of
breastfeeding. Contemp Pediatr. 1998;15:108 –119
Lawrence RA. Breastfeeding: A Guide for the Medical Profession. 5th
ed. St Louis, Mo: Mosby-YearBook, Inc; 1999
Philipp BL, Cadwell K. Fielding questions about breastfeeding.
Contemp Pediatr. 1999;16:149 –164
Riordan J. Breastfeeding and Human Lactation. 3rd ed. Sudbury,
Mass: Jones and Bartlett Publishers; 2005
nutrition breastfeeding
416 Pediatrics in Review
Vol.27 No.11 November 2006
PIR Quiz
Quiz also available at www.pedsinreview.org.
5. You are discussing the physiology of lactation with a medical student. Which of the following statements is
true
?
A. After delivery, the prolactin concentration drops, leading to increased milk synthesis.
B. Lactation does not occur if pregnancy does not progress beyond 20 weeks.
C. Obesity does not interfere with lactogenesis.
D. Oxytocin causes the milk-ejection reflex or letdown.
E. The rate of milk synthesis is not related to the degree of emptiness or fullness of the breast.
6. Compared with mature human milk, colostrum contains more:
A. Calories.
B. Carbohydrate.
C. Fat.
D. Protein.
E. Vitamin C.
7. Of the following pathogens, breastfeeding is
most
likely to protect against infection caused by:
A.
Escherichia coli.
B. Hepatitis C virus.
C. Herpes simplex virus.
D. Human immunodeficiency virus.
E.
Mycobacterium tuberculosis.
8. You are evaluating a healthy breastfed newborn. In which of the following conditions would you strongly
advise against breastfeeding?
A. The mother has a history of positive purified protein derivative test with negative chest radiograph and
is currently receiving isoniazid treatment.
B. The mother is a chronic hepatitis C carrier.
C. The mother is cytomegalovirus-positive.
D. The mother is hepatitis B surface antigen-positive.
E. The mother is receiving chemotherapeutic agents for breast cancer treatment.
nutrition breastfeeding
Pediatrics in Review
Vol.27 No.11 November 2006
417
Author Disclosure
Drs Singh and Silberbach did not
disclose any financial relationships
relevant to this article.
To view a sample preparticipation
evaluation form, visit
www.pedsinreview.org and click on
Consultation with the Specialist.
Cardiovascular Preparticipation
Sports Screening
Anoop Singh, MD,* Michael Silberbach, MD
Objectives After reading this article, readers should be able to:
1. Describe the key cardiac elements of the preparticipation examination.
2. Identify red flags in a patient’s cardiac history and physical examination
that warrant consultation with a cardiologist.
3. Characterize the cardiovascular findings of the well-trained athlete.
4. Recognize the common causes of sudden cardiac death on the playing field.
5. Discuss the absolute and relative contraindications to athletic participation.
Background
In the United States, the prepartici-
pation examination (PPE) has be-
come a standard for athletic clearance
of high school students in nearly ev-
ery state. This screening serves many
purposes, but a primary goal is to
restrict athletic participation of those
who may be predisposed to dying on
the playing field.
The death of a high school athlete
devastates the child’s family, signifi-
cantly affects the local community,
and often generates extensive media
coverage. Fortunately, sudden death
remains a rare phenomenon; best es-
timates predict an incidence of 1 per
200,000 high school athlete-years.
In 75% of such cases, cardiovascular
disease is the cause. Accordingly,
medical professionals must have a
keen sense for detecting silent cardiac
disease in young athletes.
History Taking
The medical history is the most im-
portant part of the cardiovascular
PPE. It is best to ask open-ended
questions of the patient. A volun-
teered complaint warrants greater at-
tention than a “yes/no” response.
A checklist of questions that probes
for potential cardiac disease is also
helpful (see the form available in the
online version of this article only).
Family concerns or observations
complement the picture of the ado-
lescent’s health. Indeed, the Ameri-
can Heart Association recommends
that a parent verify all elements of the
history.
The personal history focuses on
symptoms such as chest pain, chest
tightness, dyspnea, near-syncope,
syncope, dizziness, exercise intoler-
ance, and fatigue. The setting in
which symptoms occur is very impor-
tant. Symptoms in the context of ath-
letic activity may be a harbinger of
cardiovascular disease. For example,
a history suggestive of vasovagal syn-
cope is less concerning than one of
exercise-related syncope. On the
other hand, palpitations may be
more noticeable and worrisome
when they occur at rest.
A detailed medication history in-
cludes both prescribed medications
and supplements. When asking about
illicit drug use, particular attention
should be given to performance-
enhancing drugs such as androgenic
steroids, human growth hormone, and
amphetamines.
Important components of the
*Fellow, Pediatric Cardiology, Department of
Pediatrics, Oregon Health & Science University,
Portland, Ore.
Editorial Board.
consultation with the specialist
418 Pediatrics in Review
Vol.27 No.11 November 2006
past medical history include rheu-
matic fever, Kawasaki disease, myo-
carditis, arrhythmias, congenital
heart disease, heart murmurs, or hy-
pertension. Essential hypertension,
increasingly common in the adoles-
cent population, always warrants an
evaluation for secondary causes. Fi-
nally, unexplained seizures or near-
drowning raise the possibility of car-
diac ion channel defects, such as the
long QT syndrome (LQTS).
The family history is an integral
part of the screening process because
it may initiate additional evaluation
of an asymptomatic patient. Perti-
nent family history includes congen-
ital heart disease, Marfan syndrome
or other connective tissue disorders,
cardiomyopathy, and LQTS or other
arrhythmias. Searching for silent car-
diac disease entails asking specifically
about unexplained sudden death in
the family, such as unexplained
drowning, near-drowning, seizures,
or an automobile fatality, especially
involving a family member younger
than 50 years of age.
Physical Examination
Vital signs are an important aspect of
the physical examination. The heart
rate and blood pressure are com-
pared with age-specific norms. Hy-
pertension in children is defined as a
blood pressure greater than the 90th
percentile for age, height, and sex.
Hypertension warrants, at a mini-
mum, four extremity blood pressure
measurements and another measure-
ment at a separate office visit.
The general examination of the
patient includes an overall assess-
ment for features suggestive of
Marfan syndrome, such as kyphosco-
liosis, pectus deformity, arm span
greater than height, joint hypermo-
bility, arachnodactyly, and a tall and
thin body habitus.
Auscultation of the chest focuses
on heart sounds, clicks, and cardiac
murmurs and is performed with the
patient in both the supine and stand-
ing positions. The standing position
accentuates the dynamic obstruction
murmur of hypertrophic cardiomy-
opathy. The abdomen must be pal-
pated to detect organomegaly. Fi-
nally, the physical examination must
include assessment of femoral pulses
to screen for aortic coarctation.
When to Refer
Referring a patient to a pediatric car-
diologist depends on the experience
and comfort level of the primary care
practitioner. Although each case has
its own nuances, there are “red flags”
in the history and examination that
usually prompt consultation with a
pediatric cardiologist (Table 1).
Cardiology Evaluation
A patient referred to a pediatric car-
diologist may or may not require any
testing, depending on the results of
the history and physical examination.
When more information is needed, a
chest radiograph and electrocardio-
gram (ECG) often are obtained.
However, left ventricular hypertro-
phy is difficult to diagnose on a plain
film, and as many as 15% of those
who have cardiac hypertrophy have a
completely normal 12-lead ECG
tracing. Accordingly, an echocardio-
gram is often part of the primary
investigation in referred patients. Ad-
ditional tests at the cardiologist’s
disposal include ambulatory ECG
monitoring, 30-day ECG-event mon-
itoring, exercise stress testing, electro-
physiology studies, stress echocardio-
grams, cardiac magnetic resonance
imaging, cardiac catheterization, and
angiography.
The responsibilities of the pediat-
ric cardiologist are threefold: 1) find-
ing cardiovascular disease in undiag-
nosed patients and initiating therapy,
2) identifying those patients at risk
for sudden cardiac death, and
3) clearing healthy individuals for full
athletic participation.
There is, however, a gray area be-
tween healthy-appearing and diseased
hearts. The well-trained athlete’s heart
falls into this indeterminate category.
The Athlete’s Heart
Just as aerobic and isometric exercise
have visible effects on skeletal mus-
cle, athletic training remodels cardiac
muscle. Such morphologic changes
present a challenge to the clinician,
who must distinguish between be-
Table 1. Red Flags in the History or Physical
Examination
Syncope or near-syncope on exertion
Chest pain/discomfort on exertion
Palpitations at rest
Excessive shortness of breath or fatigue with activities
Family history of Marfan syndrome, cardiomyopathy, long QT syndrome, or
clinically significant arrhythmias
Family history of premature, sudden death
Irregular heart rhythm
Weak or delayed femoral pulses
Fixed, split second heart sound
Any systolic murmur graded 3/6 or greater
Any diastolic murmur
Stigmata of Marfan syndrome
Chest pain in Turner syndrome
consultation with the specialist
Pediatrics in Review
Vol.27 No.11 November 2006
419
nign adaptation to exercise and car-
diac disease.
Endurance training normally re-
sults in enlargement of the left ven-
tricular cavity due to an increased
stroke volume. Basal cardiac output
is unaffected because the well-
conditioned athlete’s resting heart
rate is decreased. However, the de-
gree of left ventricular enlargement
can approach dimensions seen pri-
marily in diseased hearts.
Another conundrum is presented
by left ventricular hypertrophy. Stud-
ies have shown that 2% of highly
trained male athletes demonstrate
significant increases in left ventricular
wall thickness. Thus, echocardio-
graphically determined cardiac mea-
surements may overlap with diagnostic
criteria for hypertrophic cardiomyopa-
thy. In these patients, the suspicion
increases if there is a positive family
history for cardiomyopathy, an asym-
metry between the septal and poste-
rior left ventricular wall thickness by
echocardiography, a lack of concur-
rent left ventricular cavity enlarge-
ment, an abnormal ECG tracing, or
no decrease in thickness with decon-
ditioning.
In addition to structural changes,
the athlete’s heart displays unusual
ECG patterns, arrhythmias, and con-
duction abnormalities. An Italian
study showed that 40% of athletes
had abnormal electrical patterns on
ECG recordings in a population in
whom only 5% had a cardiovascular
abnormality. Ambulatory ECG mon-
itoring in normal athletes may show
junctional rhythm at rest, frequent
premature ventricular beats, ventric-
ular couplets, or nonsustained ven-
tricular tachycardia that can be con-
fused with ventricular irritation from
myocarditis.
Athletes who have left ventricular
enlargement or hypertrophy and are
deemed otherwise healthy should be
cleared to participate in sports. How-
ever, it should be noted that such
physiologic changes cannot be la-
beled definitively as benign. One
long-term echocardiographic study
following elite athletes showed that
cardiac chamber enlargement per-
sisted despite deconditioning in 20%
of the retired athletes. Thus, the sig-
nificance of exercise-induced ventric-
ular remodeling remains undefined.
Sudden Death
The exact number of young athletes
dying during competitive sports is
uncertain. Incidence estimates range
from 1 per 44,000 to 1 per 200,000
athlete-years. Approximately 75% of
all sudden deaths are due to cardio-
vascular disease, with hypertrophic
cardiomyopathy being the most
common cause. Fatal events due to
commotio cordis comprise the bulk
of sports-related deaths not due to
underlying cardiovascular disease.
Knowing that the presenting event of
previously undetected cardiovascular
disease may be death makes a com-
pelling case for the importance of the
PPE.
Hypertrophic Cardiomyopathy
(HCM)
HCM is the most common cause of
sudden cardiac death in young ath-
letes. HCM has an autosomal domi-
nant inheritance pattern, with more
than 400 mutations on 12 genes de-
scribed thus far. The prevalence in
the general population is estimated
to be 0.2%. Clinical features that may
raise suspicion for the disease include
symptoms of left ventricular outflow
obstruction, a heart murmur, family
history of HCM, or an abnormal
ECG tracing. Echocardiography
demonstrates left ventricular hyper-
trophy that classically is asymmetric.
However, absence of cardiac hyper-
trophy does not rule out the presence
of HCM. At the cellular level, myo-
fibrillary disarray creates a substrate
for electrical instability. Sudden
death is likely the result of re-entrant
ventricular arrhythmias.
Congenital Coronary Artery
Anomalies
Coronary arteries arising from the
wrong sinus are the second leading
cardiac cause of death on the playing
field. Of these congenital malforma-
tions, a left main coronary artery
originating from the right sinus of
Valsalva and traveling between the
aorta and main pulmonary artery is
the most common. Affected patients
may experience chest pain on exer-
tion. However, findings on physical
examination and ECG are usually
normal. The exact mechanism of
sudden death is debated. The abnor-
mal coronary vessel often arises at an
acute angle from the sinus of Val-
salva; this precipitous origin may pre-
dispose to ischemia when myocardial
demands increase with exercise.
Marfan Syndrome
Marfan syndrome is an autosomal
dominant disorder caused by muta-
tions in the gene encoding the pro-
tein fibrillin, a key component of
connective tissue. The estimated
prevalence ranges from 1 per 5,000
to 1 per 10,000. Clinical features in-
clude kyphoscoliosis, pectus defor-
mities, arm span greater than height,
joint hypermobility, arachnodactyly,
pes planus, lens dislocation, myopia,
and a history of spontaneous pneu-
mothorax. Cardiac manifestations in-
clude aortic root dilatation, aortic
dissection, and mitral valve prolapse.
The diagnosis is based on the family
history and clinical criteria. Sudden
cardiac death is due to dissection and
rupture of the aorta.
Congenital LQTS
LQTS involves the generation of an
abnormal myocardial action poten-
tial due to defects in cell membrane-
consultation with the specialist
420 Pediatrics in Review
Vol.27 No.11 November 2006
Figure. A. 12-lead electrocardiogram tracing from a 10-year-old who has long QT syndrome, demonstrating a prolonged QTc of 590
msec. B. Rhythm strip from a 14-year-old during an episode of polymorphic ventricular tachycardia (torsades de pointes).
consultation with the specialist
Pediatrics in Review
Vol.27 No.11 November 2006
421
associated ion channel proteins. The
diagnosis is considered when a pro-
longed QTc interval [Bazett formula
(QT in msecs and RR in secs):
QTcQT/RR] accompanies a
history of syncope. Sensorineural
deafness, present in the autosomal
recessive form of LQTS (Jervell and
Lange-Nielsen syndrome), may be
an additional clue. Syncope is due to
self-limited episodes of polymorphic
ventricular tachycardia called tor-
sades de pointes (Figure). Prolonged
QTc interval and a positive family
history are important risk factors for
sudden death. Although the arrhyth-
mia may occur at any age, there is a
predilection for cardiac events in ad-
olescence. Sudden death occurs
when the arrhythmia degenerates
into ventricular fibrillation.
Commotio Cordis
Commotio cordis causes 20% of all
sudden deaths in young athletes. It
occurs when blunt, nonpenetrating
trauma to the chest produces ventric-
ular fibrillation. The blow often is
neither excessive nor associated with
structural injury. Arrhythmias may
be induced by enhanced energy
transfer to the heart through the
child’s compliant chest wall coincid-
ing with a vulnerable period of car-
diac repolarization. Projectiles such
as baseballs and hockey pucks have
been implicated most often in com-
motio cordis. Survival is less than
15% but improves if prompt cardio-
pulmonary resuscitation and defibril-
lation occur.
Eligibility and
Disqualification From Sports
Young athletes who have cardiovas-
cular disease are at greater risk for
sudden death than are nonathletes
who have cardiac disease. Perhaps ex-
treme exercise stress triggers rare
events such as malignant arrhythmias
that otherwise would remain hidden.
Thus, the rationale for athletic dis-
qualification is that the cessation of
athletic activity may be protective.
The current recommendations for
sports eligibility are based on the
consensus opinion outlined in the
36th Bethesda Conference guide-
lines. Although the recommenda-
tions generally are conservative, only
a handful of cardiovascular condi-
tions require disqualification from all
sports (Table 2). The Bethesda eligi-
bility criteria do not apply to non-
competitive, recreational activities.
The American Heart Association has
published separate guidelines.
The clinician must consider mul-
tiple factors, both physical and psy-
chological, before disqualifying a
particular patient. In many cases, the
activities may be limited and not
eliminated. For example, individuals
who have Marfan syndrome or an im-
plantable cardioverter-defibrillator are
cautioned to avoid sports that carry a
risk of bodily collision.
Because different sports carry dif-
ferent risks, it may be possible to
tailor recommendations to an indi-
vidual patient. It is possible to cate-
gorize various activities into static
and dynamic exercise components,
permitting classification in terms of
the type of stress (Table 3). Static
exercise involves isometric muscle
contraction, resulting in an increas-
ing pressure load on the heart. Static
exercise should be avoided by pa-
tients who have left heart obstructive
disease, regurgitant aortic valves, or
connective tissue disorders where
aortic dilation is a risk. However, it
may be appropriate to recommend
moderate dynamic and low static ac-
tivities for these individuals. Dy-
namic exercises, on the other hand,
require isotonic muscle contraction
and typically result in increasing the
cardiac output. High-intensity dy-
namic exercises may be stressful for
patients who have even mild ventric-
ular dysfunction. Such patients
might be restricted to low dynamic/
low static competitive sports.
Conclusion
The PPE is the optimal tool available
to primary care practitioners for pre-
venting heart disease-related deaths
on the playing field. However, there
is considerable variability in the de-
tails of the screening process, and
many states have either no or inade-
quate examination forms. Standard-
izing the history and physical form
and creating accreditation criteria for
clinicians who perform the examina-
tion would be two good steps toward
optimizing the PPE. The cost/
benefit ratio of obtaining an ECG or
Table 2.
Absolute Contraindications to Sports
Participation
Pulmonary vascular disease with cyanosis and large right-to-left shunt
Severe pulmonary hypertension
Severe aortic stenosis or regurgitation
Severe mitral stenosis or regurgitation
Cardiomyopathies
Vascular form of Ehlers-Danlos syndrome
Coronary anomalies of wrong sinus origin
Catecholaminergic polymorphic ventricular tachycardia
Acute phase of pericarditis
Acute phase of myocarditis (at least 6 mo)
Acute phase of Kawasaki disease (at least 8 wk)
consultation with the specialist
422 Pediatrics in Review
Vol.27 No.11 November 2006
focused cardiac ultrasonography to
rule out hypertrophic cardiomyopa-
thy continues to be debated in the
United States. A recent consensus
statement from Europe has advo-
cated the use of 12-lead ECGs based
on the 25-year experience in Italy
where electrocardiography has been
an integral part of the PPE. (See
commentary by Dr Renato Vitiello in
the Internet-only pages.)
This article has focused on identi-
fying silent cardiovascular disease
and defining criteria for determining
sports eligibility in young athletes. It
is important to remember that the
incidence of sudden cardiac death
during sports participation is ex-
tremely low. In the United States,
accidents, homicide, and suicide are
far more prevalent problems, causing
10,000 deaths a year in 15- to 19-
year-olds. Although the primary care
practitioner assiduously seeks to
identify heart disease during the
screening visit, it is equally important
to promote a physically active life-
style that encourages both mental
and cardiovascular health.
EDITORIAL BOARD NOTE. In the
United States, medical evaluation
prior to participation in sports is stan-
dard practice, but national guidelines
for the PPE are not established. In
Italy, a federal law sets a single, high
standard for the entire country that
requires certification for screeners
and an ECG in addition to the his-
tory and physical examination. In
this month’s Internet-only pages of
PIR, Dr Renato Vitiello cites data
suggesting that sudden death from
HCM in athletes can be reduced by
this approach. The Italian perspec-
tive may soon be adopted by all of
Europe. Michael Silberbach, MD
Suggested Reading
Corrado D, Pelliccia A, Bjornstad HH, et al.
Cardiovascular pre-participation screen-
ing of young competitive athletes for
prevention of sudden death: proposal
for a common European protocol. Con-
sensus Statement of the Study Group of
Sport Cardiology of the Working Group
of Cardiac Rehabilitation and Exercise
Physiology and the Working Group of
Myocardial and Pericardial Diseases of
the European Society of Cardiology.
Eur Heart J. 2005;26:516 –524
Glover DW, Maron BJ. Profile of prepartici-
pation cardiovascular screening for high
school athletes. JAMA. 1998;279:
1817–1819
Maron BJ. Sudden death in young athletes.
N Engl J Med. 2003;349:1064–1075
Maron BJ, Shirani J, Poliac LC, Mathenge
R, Roberts WC, Mueller FO. Sudden
death in young competitive athletes.
Clinical, demographic, and pathological
profiles. JAMA. 1996;276:199 –204
Moss AJ. Long QT syndrome. JAMA.
2003;289:2041–2044
Pelliccia A, Maron BJ, Culasso F, et al.
Clinical significance of abnormal elec-
trocardiographic patterns in trained ath-
letes. Circulation. 2000;102:278 –284
Pelliccia A, Maron BJ, De Luca R, Di Paolo
FM, Spataro A, Culasso F. Remodeling
of left ventricular hypertrophy in elite
athletes after long-term deconditioning.
Circulation. 2002;105:944 –999
36th Bethesda Conference: eligibility rec-
ommendations for competitive athletes
with cardiovascular abnormalities. JAm
Coll Cardiol. 2005;45:1312–1375
Table 3.
Classification of Sports According to
Type of Exercise
Low Dynamic Moderate Dynamic High Dynamic
Low Static Billiards
Bowling
Cricket
Golf
Riflery
Baseball
Softball
Fencing
Table tennis
Volleyball
Badminton
Field hockey
Racquetball
Soccer
Tennis
Track (long distance)
Moderate
Static
Archery
Auto racing
Diving
Equestrian
Motorcycling
Field events
Figure skating
Football/Rugby
Rodeo
Surfing
Track (sprinting)
Basketball
Ice hockey
Lacrosse
Track (middle distance)
Swimming
Cross-country skiing
High Static Bobsledding
Field (throwing)
Gymnastics
Sailing/Windsurfing
Sport climbing
Weight lifting
Bodybuilding
Downhill skiing
Skateboarding
Snowboarding
Wrestling
Boxing
Canoeing/Kayaking
Cycling
Rowing
Speed skating
Triathlon/Decathlon
Modified from Task Force 8; classification of sports. J Am Coll Cardiol. 2005;5:1366. Copyright
2005. The American College of Cardiology Foundation and American Heart Association, Inc.
Permission granted for one time use. Additional reproduction is not permitted without permission of
the ACC/AHA.
consultation with the specialist
Pediatrics in Review
Vol.27 No.11 November 2006
423
PIR Quiz
Quiz also available online at www.pedsinreview.org.
9. A pediatrician is conducting a history and preparticipation physical examination on a teenager. In the
medical history, the event that would be
most
suspicious for an inherited cardiac ion channel defect, such
as the long QT syndrome, is:
A. Extreme weight loss.
B. History of narcolepsy.
C. Near-drowning.
D. Status asthmaticus.
E. Episodes of vertigo.
10. Sudden death during competitive sports remains a tragic phenomenon in athletes. The percent of these
deaths attributable to underlying cardiovascular disease is estimated to be:
A. 20%.
B. 40%.
C. 50%.
D. 75%.
E. 100%.
11. You have been asked to help at the local sports clinic day for your community. Your assignment is the
cardiovascular station for the high school football team. In examination of the athletes, the physical
finding
most
suggestive of hypertrophic cardiomyopathy is:
A. A continuous murmur heard on auscultation.
B. A pectus deformity.
C. A systolic murmur accentuated in the standing position.
D. Joint hypermobility.
E. Weak or delayed femoral pulses.
12. You are examining a cross country runner who has had occasional episodes of chest pain. His daily
training includes running 10 miles a day. There is a family history of sudden death of an uncle at a young
age while playing football, raising your concern about cardiomyopathy. You schedule him for
echocardiography. The information on this study that would
most
suggest hypertrophic cardiomyopathy is:
A. Asymmetric thickness between the septal and posterior left ventricular wall.
B. Bicuspid aortic valve.
C. Left ventricular cavity enlargement.
D. Left ventricular thickening that normalizes with a month of deconditioning.
E. The presence of a patent foramen ovale.
For the following questions, match the specific condition with the way this condition might cause a fatal
event.
13. Commotio cordis
14. Congenital coronary artery anomalies
15. Hypertrophic cardiomyopathy
16. Long QT syndrome
17. Marfan syndrome
A. Aortic dissection.
B. Blunt trauma to the chest wall producing ventricular fibrillation.
C. Electrically unstable myocardium as substrate for ventricular arrhythmias.
D. Myocardial ischemia leading to ventricular fibrillation.
E. Torsades de pointes degenerating into ventricular fibrillation.
consultation with the specialist
424 Pediatrics in Review
Vol.27 No.11 November 2006
The reader is encouraged to write
possible diagnoses for each case before
turning to the discussion. We invite
readers to contribute case
presentations and discussions.
Please inquire first by contacting Dr.
Nazarian at LFredN@aol.com.
Author Disclosure
Drs McPeak, Guerra, Nefcy, LaShell,
Wolf, and Algon did not disclose any
financial relationships relevant to
these cases.
To view Suggested Reading lists for these
cases, visit pedsinreview.org and click on
Index of Suspicion.
Case 1 Presentation
A 10-month-old boy is brought to a
community ED because he started
vomiting last night and “has not
been the same since.” This morning,
his mother noted that he was breath-
ing fast. He had a low-grade fever
this morning, but none prior. He has
had no weight loss or diarrhea and
has not been exposed to illness. In-
travenous access is obtained, and the
child is intubated because of respira-
tory distress and is flown to a chil-
dren’s hospital.
On examination, the boy’s tem-
perature is 37.6°F (99.7°C), heart
rate is 158 beats/min, and blood
pressure is 90/44 mm Hg. His respi-
ratory rate had been 60 breaths/min
prior to being intubated. He is a
plump, robust infant who is sedated
on the ventilator. Faint crackles are
audible in his lungs. His skin is warm
and well perfused. The rest of his
findings are normal.
Laboratory findings include glu-
cose, 176 mg/dL (9.8 mmol/L); so-
dium, 140 mEq/L (140 mmol/L);
potassium, 3.1 mEq/L (3.1 mmol/);
chloride, 115 mEq/L (115 mmol/L);
bicarbonate, 10 mEq/L (10 mmol/
L); calculated anion gap, 15 mEq/L
(15 mmol/L); BUN, 5 mg/dL
(1.8 mmol/L); and creatinine,
0.3 mg/dL (26.5 mcmol/L).
A blood gas reveals a pH of 7.29 with
a bicarbonate level of 14 mEq/L
(14 mmol/L), a carbon dioxide con-
centration of 14 torr, and a base deficit
of 18.6 mEq/L. His WBC count is
14.910
3
/mcL (14.910
9
/L) with
71% neutrophils and 2% bands. He is
started on vasoactive medication for
hypotension and treated for sepsis,
but the clinicians are concerned that
he has had minimal fever and no rash,
and the laboratory findings are puz-
zling. An additional blood test re-
veals the diagnosis.
Case 2 Presentation
A 4-year-old boy is brought to the
clinic because of a chest deformity.
Born at term, his birthweight was 3.8
kg, and his perinatal course was un-
remarkable. When he was 1 year old,
his mother first noticed a concavity in
his mid-chest region. Two years ago,
he developed mild intermittent
asthma that has been well controlled
with allergen avoidance and occa-
sional inhaled bronchodilator ther-
apy. His weight is 17 kg (50th per-
centile) and his height is 112 cm
(99th percentile). His development
is consistent with his age, except for
moderate language delays, for which
he receives speech therapy.
On physical examination, a
marked pectus excavatum deformity
is evident, as well as thoracic spine
scoliosis and bilateral pes planus. Ad-
ditional clinical findings lead to sus-
picion of a specific syndrome.
Case 3 Presentation
A 14-year-old boy is sent to the ED
by his pediatrician because of a
2-month history of increasing fa-
tigue, dyspnea on exertion, and an
8-lb weight loss. A chest radiograph
performed yesterday shows bilateral
patchy infiltrates. He denies fever,
vomiting, diarrhea, changes in appe-
tite, or feeling lightheaded. The boy
recently visited Puerto Rico for
10 days and works in a dog kennel on
weekends. He has had no significant
past illnesses and does not take any
medications on a regular basis.
On physical examination, his tem-
perature is 97.6°F (36.5°C), heart
rate is 102 beats/min, respiratory
rate is 20 breaths/min, and blood
pressure is 114/68 mm Hg. There
are diminished breath sounds bilater-
ally throughout his lung fields, but
he has no respiratory distress. His
oxygen saturation is 92% on room
air.
Frequently Used Abbreviations
ALT: alanine aminotransferase
AST: aspartate aminotransferase
BUN: blood urea nitrogen
CBC: complete blood count
CNS: central nervous system
CSF: cerebrospinal fluid
CT: computed tomography
ECG: electrocardiography
ED: emergency department
EEG: electroencephalography
ESR: erythrocyte sedimentation
rate
GI: gastrointestinal
GU: genitourinary
Hct: hematocrit
Hgb: hemoglobin
MRI: magnetic resonance imaging
WBC: white blood cell
index of suspicion
Pediatrics in Review
Vol.27 No.11 November 2006
425
The boy’s WBC count is
6.810
3
/mcL (6.810
9
/L), Hgb
value is 16.1 g/dL (160 g/L), Hct
is 45.6% (0.456), and platelet count
is 28310
3
/mcL (28310
9
/L).
Electrolyte concentrations, liver
function tests, and protein and albu-
min concentrations are within nor-
mal limits. Blood glucose concentra-
tion is 92 mg/dL (5.1 mmol/L),
calcium is 12.4 mg/dL (3.1 mmol/
L), and ionized calcium is 5.6 mg/
dL (1.4 mmol/L). His ESR is 3 mm/
h. A CT scan of his chest reveals
bilateral ground-glass opacities with
prominent mediastinal and hilar
lymph nodes bilaterally. He is admit-
ted to the hospital for intravenous
hydration, treatment of his hypercal-
cemia and oxygen requirement, and
additional evaluation of his pulmo-
nary disease.
Case 1 Discussion
The child had an anion gap acidosis,
but no evidence of a disorder that
would cause lactic acidosis. Although
he had been vomiting for 12 hours,
he had no other insensible losses to
explain the rapid deterioration. Dia-
betic ketoacidosis seemed unlikely
because his glucose level never ex-
ceeded 200 mg/dL (11.1 mmol/L).
The wide anion gap acidosis
prompted measurement of salicylate
concentrations, although there was
no history of ingestion. Salicylates
were present at a toxic level of
60 mg/dL (4.3 mmol/L). The pa-
tient was alkalinized immediately and
dialyzed. In 24 hours, he was extu-
bated and was doing well.
Laboratory Clues
Severe dehydration from vomiting or
diarrhea can cause a significant lactic
acidosis due to tissue hypoxemia and
hypoperfusion. However, this child
had only a brief history of vomiting.
The rapid breathing and respiratory
distress that required intubation led
the clinicians to consider an underly-
ing metabolic derangement. Other
disorders to consider in this case are
methanol toxicity, uremia, diabetic
ketoacidosis, paraldehyde ingestion,
iron and isoniazid toxicities, lactic ac-
idosis, and ethylene glycol ingestion.
The addition of salicylism to the list
creates the “MUDPILES” mne-
monic.
In this case, the child’s mother
later discovered that one of the sib-
lings had given the infant several
adult aspirin tablets. Although the
ingestion history was not known at
the time of admission, a thorough
investigation of the child’s wide an-
ion gap acidosis led to the diagnosis.
Other supporting laboratory findings
included the potassium concentra-
tion of 3.1 mEq/L (3.1 mmol/L) and
serum bicarbonate level of 10 mEq/L
(10 mmol/L).
The Disorder
Aspirin toxicity remains one of the
most serious ingestions in the pediat-
ric population. Despite the recent
declining incidence, there still are ap-
proximately 16,000 cases yearly of
aspirin overdose in this country, re-
sulting in 30 to 35 deaths. An acute
toxic dose for a child is greater than
150 mg (approximately one half of a
325-mg adult tablet) per kg. Al-
though overall use of aspirin has de-
creased, most households in the
United States still contain salicylates
in one form or another (tablets, bis-
muth compounds, keratolytic agents).
Pathophysiology
Salicylates have a broad scope of ac-
tion, especially in toxic doses, be-
cause of their ability to uncouple ox-
idative phosphorylation, inhibit
amino acid synthesis, and inhibit
Krebs cycle enzymes. The emesis and
nausea that patients experience after
aspirin ingestion are related to direct
gastric irritation. Other effects in-
clude altered hearing (usually tinni-
tus), fever, and altered mental status
that can range from agitation to sei-
zures to stupor and coma.
In the initial phase of aspirin over-
dose, patients experience respiratory
alkalosis due to direct stimulation of
the CNS respiratory drive. To correct
this alkalosis, bicarbonate is excreted
in the urine, causing alkaluria. Ini-
tially, potassium also is excreted in
the urine, leading to global hypoka-
lemia. In the next phase of salicylate
toxicity, the kidneys attempt to pre-
serve the potassium level by an ex-
change for hydrogen ions in the
urine. This paradoxic aciduria in the
face of a respiratory alkalosis is a hall-
mark of aspirin toxicity.
In the final stages of aspirin over-
dose, hyperpnea continues as a re-
sponse to the primary metabolic aci-
dosis. This exaggerated breathing
contributes further to insensible wa-
ter losses. Although adults tend to
have a mixed respiratory alkalosis and
metabolic acidosis, acidosis often
predominates in young children. Fi-
nally, as in this infant, salicylates in-
crease pulmonary vasculature perme-
ability, leading to noncardiogenic
pulmonary edema.
Laboratory Evaluation
Several studies should be ordered in
cases of suspected salicylate toxicity.
Electrolytes, BUN, creatinine, arte-
rial blood gases, complete blood
count, and liver function tests should
be checked immediately. Hypokale-
mia is common and can be severe.
Salicylate levels should be checked
immediately if ingestion is suspected
and subsequently checked every 2 to
4 hours until decreasing or reaching
less than 30 mg/dL (2.2 mmol/L).
Although levels typically peak 4 to
6 hours after aspirin ingestion and
correlate poorly with clinical symp-
toms, prolonged peaking of salicy-
index of suspicion
426 Pediatrics in Review
Vol.27 No.11 November 2006
lates occurs with ingestion of enteric-
coated tablets or in the presence of
any obstruction in the GI tract, such
as a pill bezoar or pylorospasm.
As in this patient, if the diagnosis
is uncertain, additional laboratory
testing should be undertaken to rule
out other causes of anion gap acido-
sis. Serum lactate, osmolarity, and a
urinalysis looking for ketones can be
helpful. It also may be useful to mea-
sure iron and alcohol levels (looking
for methanol and ethylene glycol).
As always, a thorough history is indi-
cated, particularly focusing on all
medications, including over-the-
counter items, in the household.
Treatment
If the patient is alert, activated char-
coal should be administered. Gastric
lavage usually is not recommended
unless the ingestion is believed to
have been a large, life-threatening
dose and has been brought to medi-
cal attention within 1 hour. Most
important in the treatment of salicyl-
ism is the correction of multiple met-
abolic derangements and dehydra-
tion. Initially, fluid boluses should be
considered in the face of severe dehy-
dration. Caution must be exercised
in the presence of pulmonary edema
or renal failure.
Alkalinization enhances salicylate
elimination and should be instituted
promptly. A goal for serum pH
should be approximately 7.5, with a
goal for urinary pH of greater than
7.5. Standard recommendations sug-
gest usinga1to2-mEq/kg bolus of
bicarbonate followed by a sodium bi-
carbonate drip. Because persistent
hypokalemia may interfere with alka-
linization of the urine and salicylate
excretion, it is critical to add potas-
sium to fluids in patients who do not
have renal failure.
Dialysis should be instituted if the
serum salicylate level is greater than
100 mg/dL (7.2 mmol/L) in acute
toxicity or if there are signs of pulmo-
nary edema, renal failure, persistent
altered mental status, worsening vital
signs such as fever, or congestive
heart failure.
Intubation might be considered
in the most seriously ill patients. Cli-
nicians should realize, however, that
intubation of the patient poisoned by
salicylates can be dangerous. The pa-
tient’s own ability to hyperventilate
and regulate acidosis is suppressed,
and he or she may develop worsening
acidosis.
Rarely do long-term sequelae re-
sult from salicylate toxicity. When
recognized and treated early, most
pediatric patients do very well.
Lessons for the Clinician
It is important to consider salicylism
in the differential diagnosis of a child
who has an anion gap acidosis. In this
case, a careful review of the initial
history, physical findings, and labora-
tory studies narrowed the differential
diagnosis significantly. Early recogni-
tion and treatment can be life-saving.
(Katie E. McPeak, MD, Children’s
Hospital of Pittsburgh, Pittsburgh,
Pa.)
Case 2 Discussion
On further examination, the boy’s
arm span was 114 cm and arm span-
to-height ratio was 1.01 (upper limit
of normal, 1.05). His lower segment
measured 59 cm, upper segment was
53 cm, and upper-to-lower segment
ratio was 0.9 (normal, 1). A scoli-
osis series showed a 25-degree devi-
ation of the thoracic spine to the
right.
The presence of major skeletal
features of Marfan syndrome (MS)
prompted referral for cardiac and
ophthalmologic evaluation. An
echocardiogram showed dilatation of
the sinuses of Valsalva as well as aor-
tic, pulmonary, and mitral valve re-
gurgitation.
Ophthalmologic examination re-
vealed bilateral astigmatism. CT scan
of the chest showed a severe pectus
excavatum deformity.
Although no history of MS was
recorded in the family, the patient
was diagnosed as having emerging
MS based on the presence of major
skeletal and cardiovascular findings,
and he was referred for additional
management.
The Condition
MS is an autosomal dominant disor-
der that affects 1 in 10,000 individu-
als in the United States. Thirty per-
cent of cases represent a new
mutation. A mutation in the gene
that encodes fibrillin-1 (FBN1) is the
genetic basis of this disorder, and
more than one mutation has been
noted. Defective connective tissue is
the mechanism through which ab-
normalities develop.
The diagnosis of MS relies on the
recognition of both major and minor
clinical manifestations. In the ab-
sence of a family history of the disor-
der, the diagnosis is made by noting
one major manifestation from two
different systems and involvement of
a third system with either a major or
minor criterion (Table). If a muta-
tion known to cause MS has been
identified in a member of the family,
the diagnosis requires one major cri-
terion and involvement of a second
organ system.
There is great clinical variability
among individuals as to when mani-
festations of the disorder develop.
The most serious problem is aortic
enlargement, which may involve
multiple levels of the aorta, including
the sinus of Valsalva, the ascending
aorta, and beyond. Aortic root en-
largement can progress to cata-
strophic dissection. Cardiovascular
abnormalities manifest during child-
index of suspicion
Pediatrics in Review
Vol.27 No.11 November 2006
427
Table. Diagnostic Criteria for Marfan Syndrome
System Major Criteria Minor Criteria
Skeletal System Presence of at least four of the following
manifestations:
Pectus carinatum
Pectus excavatum requiring surgery
Reduced upper-to-lower segment ratio
or arm span-to-height ratio greater
than 1.05
Wrist (distal phalanx protrudes beyond
border of clenched fist) and thumb
(thumb and fifth digit overlap circling
the wrist) signs
Scoliosis >20° or spondylolisthesis
Reduced extention at the elbows
(<170°)
Medial displacement of the medial
malleolus causing pes planus
Protrusio acetabulae of any degree
(ascertained on radiographs)
Pectus excavatum of moderate severity
Joint hypermobility
Highly arched palate with crowding of
teeth
Facial appearance (dolichocephaly, malar
hypoplasia, enophthalmos, retrognathia,
down-slanting palpebral fissures)
Ocular System
Ectopia lentis (dislocated lens)
Abnormally flat cornea (as measured by
keratometry)
Increased axial length of globe (as
measured by ultrasonography)
Cardiovascular System
Dilatation of the ascending aorta with
or without aortic regurgitation and
involving at least the sinuses of
Valsalva
OR
Dissection of the ascending aorta
Mitral valve prolapse with or without
mitral valve regurgitation
Dilatation of the main pulmonary artery,
in the absence of valvular or peripheral
pulmonic stenosis or any other obvious
cause, below the age of 40 y
Calcification of the mitral annulus below
the age of 40 y
Dilatation or dissection of the descending
thoracic or abdominal aorta below the
age of 50 y
Pulmonary System None
Spontaneous pneumothorax
Apical blebs (ascertained by chest
radiography)
Skin and Integument None
Stretch marks not associated with
marked weight changes, pregnancy, or
repetitive stress
Recurrent incisional hernias
Dura
Lumbosacral dural ectasia by CT or
MRI
None
Family/Genetic
History
Having a parent, child, or sibling who
meets these diagnostic criteria
independently
None
Presence of a mutation in
FBN1
known
to cause the Marfan syndrome
Presence of a haplotype around
FBN1
,
inherited by descent, known to be
associated with unequivocally
diagnosed Marfan syndrome in the
family
CTcomputed tomography, MRImagnetic resonance imaging
From De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet.
1996;62:417–426. Published with permission of The American Journal of Medical Genetics.
index of suspicion
428 Pediatrics in Review
Vol.27 No.11 November 2006
hood in about 25% of cases and are
progressive in about 33% of affected
individuals. Dilatation of the mitral
annulus is a common cause of mitral
valve regurgitation in these patients.
The chordae tendineae also can
lengthen and rupture spontaneously.
Heart disease presenting in in-
fancy typically is mitral valve pro-
lapse, whereas aortic disease usually is
identified during later childhood and
adolescence, when the characteristic
body habitus calls attention to the
general diagnosis of MS.
Dislocated lenses commonly de-
velop by the age of 10 years. The
skeletal features can become more
pronounced during periods of rapid
growth. Dural ectasia tends to de-
velop in adulthood, although this
feature can occur at an earlier age.
The phenomenon of partial ex-
pression of MS in a child in whom the
full criteria are suspected to appear at
an older age has been termed
“emerging Marfan syndrome.”
Differential Diagnosis
Mutations in the fibrillin gene FBN1
may result in overlapping pheno-
types, including the MASS pheno-
type (mitral valve prolapse, mild aor-
tic enlargement, nonspecific skin and
skeletal features), familial thoracic
aortic aneurysms, familial ectopia
lentis, isolated skeletal features, and
mitral valve prolapse syndrome.
Other syndromes that have similar
clinical features include homocystin-
uria, Ehlers-Danlos syndrome, Stick-
ler syndrome, Klinefelter syndrome,
and congenital contractural arachno-
dactyly.
The tall, thin teenager who has
long fingers presents a challenge to
the clinician, who might suspect MS
but is not sure of how extensive an
evaluation should be undertaken. If
the history is suggestive of any ge-
netic disorders or the physical exam-
ination reveals abnormalities, addi-
tional investigations are required. It
is particularly helpful to perform an
extended skeletal examination, with
additional measurements beyond the
usual height and weight.
Management
If diagnostic criteria for MS are met,
the affected child should be referred
for evaluation by a multidisciplinary
medical team that includes a geneti-
cist and a cardiologist who has expe-
rience in the management of MS.
All children who have MS require
frequent assessment of the aortic
root. Most patients afflicted with
aortic enlargement are treated with
medications such as beta blockers to
reduce hemodynamic stress. This
treatment can slow the growth rate
of the aortic root. Standard subacute
bacterial endocarditis prophylaxis
should be implemented in those hav-
ing valve disease. Musculoskeletal
abnormalities of the chest or spine
are the most common cause of chest
pain. However, the diagnosis of aor-
tic dissection always should be con-
sidered in these cases. The combina-
tion of dysphonia caused by traction
of the recurrent laryngeal nerve and
chest discomfort is rare, but highly
suggestive of aortic dissection. If aor-
tic dissection is suspected, cardiac
MRI is the best imaging modality.
Progression of skeletal abnormal-
ities can be dramatic in periods of
rapid growth. Evaluation and
follow-up by an orthopedist is indi-
cated in these cases.
Many of the medical problems
seen in conditions such as emerging
MS, MASS phenotype, and familial
aortic dilatation are the same as those
seen in patients who have MS. Thus,
regardless of the diagnosis, it is im-
portant to adhere to the treatment
regimen prescribed for the particular
characteristics that do exist and be
conscientious about follow-up to en-
sure that additional complications do
not result.
Children at risk for aortic enlarge-
ment or dissection should refrain
from collision and contact sports,
competitive sports, and exercises that
involve muscle straining, such as
weight lifting.
Lessons for the Clinician
It is important to recognize that al-
though tall stature, scoliosis, anterior
chest deformity, arachnodactyly,
joint laxity, and flat feet are common
in the general population, diagnostic
importance increases dramatically
when such findings are prominent
and found in combination. The pur-
pose of the diagnostic evaluation of
tall stature is to distinguish the com-
monly occurring, normal, familial
constitutional variant from the rare
pathologic conditions. Often, when
the history suggests familial tall stat-
ure and the findings on physical ex-
amination are entirely normal, no
laboratory tests are indicated.
Early diagnosis and management
of MS and overlapping conditions
can save lives. Pediatricians need to
be aware of the early manifestations
of MS so prompt evaluation and
management can be instituted. (Abel
Guerra, MD, Christine Nefcy, MD,
Mark LaShell, MD, 374
th
Medical
Group, Yokota Air Base, Japan)
The views expressed in this case
are those of the authors and do not
reflect the official policy of the De-
partment of Defense or other depart-
ments of the United States govern-
ment.
Case 3 Discussion
An extensive infectious evaluation re-
vealed no evidence of bacterial infec-
tion, Mycoplasma or Legionella infec-
tion, or viral infection, including
Epstein-Barr virus, cytomegalovirus,
and human immunodeficiency virus.
index of suspicion
Pediatrics in Review
Vol.27 No.11 November 2006
429
An endocrinologic evaluation failed
to identify a cause for his hypercalce-
mia. No evidence of malignancy was
found.
The boy’s pulmonary function
tests (PFTs) showed a restrictive pat-
tern, including a forced expiratory
volume in 1 second (FEV
1
) and
forced vital capacity (FVC) at 58% of
predicted value. The FEV
1
/FVC ra-
tio was 100%, correlating with his
restrictive pattern. His angiotensin-
converting enzyme (ACE) level was
elevated at 196 IU/L (normal, 18 to
90 IU/L), and a bronchial biopsy
obtained during bronchoscopy
showed multiple noncaseating coa-
lescing granulomas suggestive of sar-
coidosis. He was started on oral
prednisone (1 mg/kg per day). He
required a short stay in the intensive
care unit to control his hypercalcemia
(ionized calcium level rose to
7.9 mg/dL [2 mmol/L]) and oxy-
gen requirement.
Repeat PFTs showed significant
improvement less than 1 week after
the initiation of corticosteroids. The
FVC and FEV
1
improved to 72% and
68% of predicted values, respectively,
and the FEV
1
/FVC ratio was 94% of
its predicted value. He was dis-
charged from the hospital on hospital
day 11 and instructed to follow up
with pediatric pulmonology and pe-
diatric rheumatology. He will con-
tinue daily steroids while having his
PFTs monitored serially. The goal is
to taper his maintenance steroid dos-
ing to an every-other-day regimen.
Pulse high-dose steroids along with
methotrexate was considered, but it
was decided to