+++
The Physical Examination
++
During routine health surveillance visits, a physical examination
should be performed for diagnostic and case-finding (screening)
purposes; it also provides a useful framework for parent and child
education and reassurance.6 Height, weight, head
circumference (ages 0 to 3 years), and body mass index (over age
2) should be monitored sequentially as part of the physical examination
as detailed in Chapters 10 and 28.5
++
The American College of Medical Genetics recommends that all
states screen in the early neonatal period for a core panel of 29
metabolic diseases and hemoglobinopathies, with another 25 disorders
recommended for inclusion either because of the benefit of early
diagnosis or because of their potential for confusion with the core
panel disorders.7 All states in the United States
have initiated neonatal screening programs, and all screen for congenital hypothyroidism,
phenylketonuria (PKU), and galactosemia, but the absence of federal
guidelines has led to considerable state-to-state variability in
other measures.8 The Maternal and Child Health
Bureau has recently begun to move toward standardization of outcomes and
guidelines for state newborn screening programs.7
++
To minimize the number of infants inadvertently missed by the
screening program, a blood sample should be obtained on all full-term
neonates just before hospital discharge. In no case should this
be obtained later than 7 days of age.9 Special
testing arrangements must be made if birthing takes place in a nontraditional
setting. Identification of some disorders, such as phenylketonuria,
requires sufficient buildup of metabolites to be detected; thus,
if blood was drawn before the infant was 24 hours old (eg, due to early
discharge), a second sample should be obtained when the child is
1 to 2 weeks old. Blood transfusions and dialysis, by introducing
foreign blood cells and reducing concentrations of circulating metabolites,
may result in both false-negative and false-positive results when
newborns are screened for metabolic disorders and hemoglobinopathies.3 When
feasible, samples should be obtained before these procedures. However, preterm
and sick infants should be screened by 1 week of age regardless
of the presence or absence of these or other factors (parenteral
feeding, antibiotic use, prematurity) that may interfere with specific
assays or the interpretation of test results. Where such concerns
exist, a repeat sample should be obtained at a time interval appropriate
to resolution of the confounding factors. Because of variability
in disease presentation and the technical aspects of screening, some
affected infants may test falsely normal on their initial screen.
Therefore, regardless of the results of the newborn screening, specific
diagnostic testing should always be performed when clinical suspicions
warrant.
++
Because of the rapid pace of change regarding newborn screening,
and because the disorders screened for are rare, the Committee on
Genetics of the American Academy of Pediatrics periodically issues
updated information for physicians regarding currently available
tests and screening recommendations.10 Because
the choice of screening test, threshold values, and implementation
strategies vary in different states and countries, providers should
be familiar with the methodology, standards, and follow-up procedures
for their regional screening program.3
++
See Chapter 82, “Standardized
Screening and Assessment Instruments.”
++
Routine vision screening is an effective way to identify otherwise
unsuspected problems that are amenable to correction. Because normal visual
development depends on the brain’s receipt of clear binocular
visual stimulation, and because the plasticity of the developing
visual system is time-limited, early detection and treatment of
a variety of problems impairing vision are essential to preventing
permanent and irreversible visual deficits. An age-appropriate assessment
should be incorporated into each health supervision visit beginning
with the newborn examination. At all ages, the examination should
include a review of relevant historical information regarding visual
concerns and family history, gross inspection of the eye and surrounding
structures, observation of pupillary symmetry and reactivity, assessment
of ocular movements, elicitation of the red reflex (to detect opacities
and asymmetries in the visual axis), and age-appropriate methods
to assess ocular preference and alignment and visual acuity. A successful
funduscopic examination should be attempted beginning at 3 years
of age and can generally be accomplished by 5 years of age.13
++
It is especially important to assess the red reflex during the
neonatal period. The red reflex should be performed with an ophthalmoscope
in a darkened room, with the infant’s eyes open, voluntarily
if possible. The eyes should be compared for color, intensity, and clarity
and examined for any white spots or opacity.14 Identification of an absent, defective, or asymmetric red reflex should lead immediately
to either a repeat examination following pupillary dilation or referral
to an experienced pediatric ophthalmologist for definitive diagnosis.
++
In the infant, ocular preference and alignment and visual acuity
can be grossly assessed by observing the baby’s ability
to visually track an object, noting any behavioral cues of an eye preference
by alternately covering each eye while presenting an interesting
object and observing the position and symmetry of the light reflected
off the corneas when a light is held several feet in front of the
eyes (corneal light reflex).13 Ocular alignment
(conjugate gaze) should be consistently present by 4 months of age;
a child with ocular deviation by history or examination after this
time should be referred for evaluation by an ophthalmologist.15
++
The toddler and preschooler should have ocular preference and
alignment assessed via the corneal light reflex, but at this age,
the cross cover test should be utilized as well. This test involves
covering and uncovering each eye while the child is looking straight
ahead at an object approximately 10 feet away. The observation of any
movement of the uncovered eye when the opposite is covered or of
the covered eye when the occluder is removed suggests potential
ocular misalignment (strabismus). By 3 to 5 years of age, stereoscopic
vision can also be assessed using the random-dot-E stereotest or
stereoscopic screening machines. A positive test via any of these
modalities warrants referral to an ophthalmologist for further evaluation.13 Regardless
of the underlying etiology, strabismus that is left untreated will
eventually result in cortical suppression of visual input from the
nondominant eye and the absence of depth perception, making early
detection and treatment critical.
++
Formal visual acuity testing should begin at 3 years of age using
age-appropriate methods.13 Approximately 5% to
10% of all preschoolers have refractive errors.16 While
picture tests such as the Lea Hyvärinen (LH) test and Allen
picture cards are most effective for screening preschoolers, by
5 years of age, most children can be successfully screened using
a wall chart with the standard Snellen alphabet chart, the tumbling-E
test, or the HOTV test. School-aged children, including adolescents,
should have their acuity checked yearly. Preschoolers should be
referred for further testing if the acuity in either eye is 20/40
or worse. In children over age 6, inability to read the majority
of a 20/30 line warrants referral. At all ages, a difference
of more than one line in the acuity measurements between eyes necessitates
further evaluation.13
++
For more detailed discussions of the approach to office evaluations
of the eyes and tests of vision, refer to Chapters 580 and 581.
++
Approximately 1 to 3 of every 1000 infants are born deaf, and
many children develop hearing deficits during childhood.17 Timely
detection of these problems allows for earlier initiation of interventions
aimed at enhancing the communication, social, and educational skills
of these children. When deaf or hard-of-hearing children are identified
earlier than 6 months of age, they perform as much as 20 to 40 percentile
points higher on school-related testing.18
++
Hearing of all infants should be screened by 1 month of age.18 In
the United States, 31 states require newborn hearing screening,
while 17 more offer it to all newborns.8 At this
time, otoacoustic emissions (OAE) and automated auditory brainstem
response (AABR) testing are available for testing in the newborn
period. In both these modalities, a series of stimuli is presented
to the infant via a probe in the ear canal. However, OAE measures
cochlear responses to an acoustic stimulus via a probe in the canal, while
AABR measures neural activity in response to a series of acoustic
stimuli via surface electrodes. While both modalities can detect sensory
hearing loss, only the AABR may detect hearing loss associated with
neural dysfunction. AABR can be used to retest a child who has not passed
the OAE, as it can verify an intact pathway. However, the opposite
is not true; a child who has not passed the AABR because of neural dysfunction
may have an intact sensory system, pass an OAE examination, and
not receive appropriate referral for the root cause. Any child who
does not pass a newborn hearing screen should receive a comprehensive
evaluation by 3 months of age by an audiologist who has the necessary
expertise and equipment.18
++
Because not all hearing loss will be uncovered by newborn screening,
and because some hearing loss is later in onset, all children with
risk factors listed in Table 12-1 should
have their hearing evaluated at least once by 2 to 2½ years of
age.18 In addition to performing a gross hearing
assessment and inquiring about hearing concerns at each well-child
visit, the American Academy of Pediatrics endorses a policy of formal
hearing screening for all children at 4, 5, 6, 8, and 10 years old.5 A
variety of transient conditions as well as testing problems can affect the hearing evaluation
of older, otherwise healthy children, and so the results of audiologic screening
must be interpreted within the context of the child’s ear-disease
history and physical findings.
++
++
For further discussion of hearing evaluation see Chapter 369.
+++
Blood Pressure Screening
++
Routine blood pressure screening during the well-child visit
allows for the identification and potential treatment of children
with persistently elevated blood pressure who are at increased risk
for hypertension and its subsequent complications as adults. In
a minority of patients, an underlying medical etiology may be found. Screening
also provides an opportunity to evaluate and potentially modify
additional cardiovascular risk factors and to provide education
regarding prudent dietary and life-style choices.
++
Blood pressure standards vary with age, gender, and height.19 Routine
blood pressure screening at least once a year is recommended for
all otherwise well children 3 years of age and older.5,6 Blood
pressure measurements should also be taken in ill and potentially
symptomatic children as well as in children younger than 3 years who
are believed to be at increased risk for hypertension because of
coexisting medical conditions (see Table 12-2).19
++
++
In the child, blood pressure should be measured
in the sitting position with the arm held at heart level. The width
of the cuff bladder should be approximately 40% of the
circumference of the upper arm at its midpoint and, when wrapped,
should cover 80% to 100% of the circumference
of the arm in order to avoid an artificially elevated reading. The
cuff is inflated to approximately 20 mm Hg above the point at which
the radial pulse disappears and deflated by 2 to 3 mm Hg/s
while the practitioner listens over the brachial artery, preferably
with the bell of the stethoscope.19 The level at
which the first tapping sound is heard (Korotkoff sound 1, or K1) is
recorded as the systolic blood pressure. The level at which all
sounds disappear (K5) represents the diastolic pressure.
++
Normal blood pressure is defined as systolic and diastolic readings
less than the 90th percentile for age and sex. Prehypertension (formerly
known as high-normal) and hypertension are defined, respectively,
as systolic and/or diastolic readings between the 90th
and 95th percentiles and greater than or equal to the 95th percentile
for age and sex, found on at least 3 separate
occasions. Children with persistently elevated blood pressure readings
(> 90th percentile) warrant a thorough history and physical examination
to identify underlying causal factors, end-organ damage, and concomitant
cardiovascular risk factors, as well as a long-term surveillance and/or
treatment plan19 (see Chapter 479).
++
In addition to providing primary prevention via anticipatory
guidance, referral to a dental home, and fluoride supplementation
if necessary, the pediatrician should perform a dental screening
examination of children aged 1 to 4 as part of an oral health risk
assessment.6 See Chapter 13 and Section 20 for more detailed information.
+++
Cholesterol
and Lipids
++
Epidemiologic data support the hypothesis that atherosclerosis
and coronary heart disease have their precursors in childhood and
that identifiable risk factors such as hypertension, obesity, and
hyperlipidemia are associated with an increased incidence of atherosclerotic disease.20 Serum
cholesterol as well as other cardiovascular risk factors can be
influenced significantly by dietary and life-style choices, and
although long-term pediatric data are lacking regarding the risks
and benefits of following prudent life-style recommendations during
childhood, until more definitive information is available, it seems
reasonable that pediatricians should provide primary preventive
counseling to all their patients and families regarding these areas.
++
Because of the current paucity of information regarding the risks
and benefits of treatment for hyperlipidemia in childhood, the costs
and limitations of available screening tests, and the potential
benefit of promoting healthy life-style and dietary choices to all
families, the American Academy of Pediatrics and the American Heart Association
do not support universal cholesterol screening for children.20 Rather, children
with a body mass index over the 85th percentile should be screened,
as should children who are at high risk for hyperlipidemia (see Table 12-3).20,21
++
++
Although the use of lead-based paint was effectively banned in
the 1970s, ingestion of lead-containing paint chips and dust created
by the deterioration or renovation of older homes remains the primary
source of lead contamination in children in the United States. Considerable attention
has been focused on this issue recently because of a growing body
of evidence that suggests an association between subtle neurobehavioral
effects and blood lead levels previously felt to be innocuous.22,23
++
In the United States, screening is recommended for children at
highest risk. All children receiving or eligible for Medicaid should
be routinely screened at 9 to 12 and 24 months of age.22 In
addition, local health departments may make recommendations, based
on suggestions from the Centers for Disease Control or on local
data, to either screen all children in their jurisdiction universally
or to not do so. Because there are no well-validated written risk
assessments available, it is additionally recommended that screening
be performed for all children who are not Medicaid eligible and
who live in an area with no local health department screening recommendations.22 Blood
lead level testing should be performed at 1 and 2 years of age and
at 36 to 72 months of age among children who have not previously been
screened. Because levels usually peak at about 18 to 24 months of
age, a single screening at 12 months of age is not sufficient. If
either of these levels are greater than 10 μg/dL,
follow-up with additional testing is indicated. Additional screening
is indicated for any child up to 6 years of age with suspected increased
risk of exposure and for children with developmental delays, particularly
if they exhibit pica. Because of the increased potential for contamination
from environmental sources, elevated values obtained from capillary
specimens should be confirmed using venous blood testing.24 The approach
to management of elevated lead levels is provided in Chapter 17.
+++
Iron-Deficiency Anemia
++
Primary prevention of iron-deficiency anemia in children is largely
accomplished via dietary recommendations, such as the early introduction
of iron-containing complementary foods to infants.25,26 However,
iron deficiency is still a relatively common condition, especially
in high-risk groups. Analysis of the fourth National Health and
Nutrition Examination Survey, which collected data from 1999 to
2002, showed an overall prevalence of iron deficiency in 8% of
all 1-year-old to 3-year-old children.27
++
Current recommendations for screening involve both universal
and selective measures. All infants should be screened once, via
measurement of hemoglobin or hematocrit, between 9 and 12 months
of age.6,25,26 In addition, prematurity, low birth
weight, early introduction of cow’s milk, and use of low-iron
formula are risk factors that should prompt an assessment at 4 months.6,25 Preschool
children who live in poverty, have limited access to food, have
a diet low in iron, or are at risk of iron deficiency because of
special health needs should be screened at 18 months and 2, 3, 4,
and 5 years of age. School-aged children who consume a strict vegetarian diet
and are not receiving an iron supplement should be screened.6,25 Lastly,
all nonpregnant women in their childbearing years should be screened
every 5 to 10 years; this applies equally to adolescent females.6,26
++
Because of the frequent occurrence of mild transient anemia with
acute illness, hemoglobin screening should not be done while the
child is ill or within several weeks of a fever or infection. Although
measurements obtained by skin puncture can be used for initial screening,
measurements obtained by venipuncture are more accurate and reproducible
and should be used for confirmation.25 Abnormally
low values are defined as being more than 2 standard deviations
below the mean for children of similar age and same sex (see Chapters 431, “Anemia: Definition, Pathophysiology, and Classification,” and
432, “Iron Deficiency”).
++
Although they are frequently obtained, many studies have shown
that in the absence of clinical concerns or risk factors, routine
surveillance urinalyses are not cost effective. Universal screening
rarely leads to detection of significant asymptomatic renal disease,28 and
when it does, one must ask whether early detection benefits the
patient more than diagnosis with the onset of symptoms. The relatively
frequent occurrence of minor abnormalities, such as microscopic
proteinuria, are of questionable significance but, along with contaminated
culture specimens, often necessitate costly and inconvenient repeat
studies. The 2007 American Academy of Pediatrics’ recommendations for
preventive care have eliminated the former recommendations for urinalysis.5,6 Urine studies
should be obtained when disease is suspected or when the child is
at increased risk for specific renal problems. The Expert Committee
on Nephrology of the American Academy of Pediatrics has published
risk factors that should prompt the pediatric provider to obtain a
urinalysis, including microscopy (see Table 12-4).29 (See also Chapter 468.)
++
++
Yearly tuberculin testing is no longer recommended for all children.
Although the number of cases of tuberculosis in the United States
has risen in recent years, these cases continue to occur primarily
within previously identified high-risk groups. In populations with
a low prevalence of tuberculosis, most reactive tests reflect false-positive
results, often because of cross-reactivity with nontubercular mycobacteria,
leading to unnecessary treatment with isoniazid. The American Academy
of Pediatrics Committee on Infectious Diseases and the Pediatric
Tuberculosis Collaborative Group currently endorse a selective screening
strategy based on the presence of risk factors for exposure to tuberculosis
(Table 12-5).30,31 All children
for whom these questions are answered positively should receive
a tuberculin skin test, as should children who have been living
in a homeless shelter, children with radiographic or clinical findings
suggesting tuberculosis, and children who are about to initiate
immunosuppressive therapy.31 In addition, children
infected with human immunosuppressive virus and incarcerated adolescents
should have an annual tuberculin skin test.31
++
++
Prior bacillus Calmette-Guérin vaccination is not a
contraindication to tuberculin skin testing. Individuals who have
received this vaccine can still acquire tuberculosis. Although some
previously vaccinated individuals have a positive tuberculin skin
test result, there is no reliable way to differentiate this reaction
from that resulting from a natural infection with Mycobacterium
tuberculosis, and recommendations regarding screening,
test interpretation, and subsequent evaluation and treatment remain
the same.31
++
Tuberculin testing relies on the presence of skin hypersensitivity
to indicate subclinical or clinical infection. Reactivity generally
develops within 2 to 12 weeks of infection.31 In all
screening situations, Mantoux testing, which is more accurate and
has the advantage of allowing quantification of the subsequent response,
should replace multipuncture or Tine testing, and results should
be read by qualified medical personnel.30 In Mantoux testing,
a standardized dose of tuberculin (0.1 mL of 5 tuberculin units
of purified protein derivative tuberculin) is delivered intradermally,
using a 26-gauge needle, to raise a wheal 6 to 10 mm in diameter.30 The
Mantoux test should be read at 48 to 72 hours by tactile measurement
of the margins of induration. Erythema alone does not signify a
positive reaction. Test interpretation is based on the size of induration,
reason for testing, and presence or absence of other risk factors. Guidelines
for interpreting test findings have been defined by the American
Academy of Pediatrics, the American Thoracic Society, and the Centers
for Disease Control (Table 12-5).31 The
classification presumes the physician’s knowledge of the
child’s and family’s risk factors as well as the
background prevalence of tuberculosis in the community. One should
remember that skin testing may be negative early in the course of
the disease or in the presence of anergy. Criteria for prophylactic
and therapeutic treatment of tuberculosis are presented in Chapter 269.