Prevention and Screening

This section provides an overview of prevention and screening practices in pediatrics, beginning with the principles and governing bodies that guide these practices, followed by a review of core prevention recommendations and screening practices.

Principles of Prevention and Screening

Primary prevention: The goal of primary prevention is to avoid new disease by reducing risk factors. Some primary prevention efforts in pediatrics include:

• fluoride varnish to reduce risk of caries

• vitamin D supplementation for infants to reduce the risk of rickets

• vaccinations to prevent disease (see Immunization in this rotation guide)

Secondary prevention: The goal of secondary prevention is to detect disease when a patient is still asymptomatic and early enough that treatment may improve prognosis. Secondary prevention is often achieved by screening (see Screening vs. Surveillance and Specific Screening and Prevention Recommendations below).

• Screening infants and children for lead exposure to determine if treatment is warranted is a classic example.

Tertiary prevention: The goal of tertiary prevention is to reduce the burden of an existing disease and prevent disease-related complications. Examples of tertiary prevention efforts include:

• screening for celiac disease in patients with type 1 diabetes

• removing allergenic triggers from the environment of a patient with asthma

Screening vs. Surveillance

Although screening and surveillance are often used interchangeably, they have unique definitions:

• Surveillance takes a larger, longitudinal view of a patient and is the process of assessing for risk factors and concerns through skilled observation.

  • An example of developmental surveillance is observation of a young child in the clinic and discussion with caregivers about developmental progress.

• Screening is a more formal process. A brief tool or test is used to identify the possible presence of a not-yet-recognized condition. A screen may be used universally or when certain risk factors are present. A screening test or tool is not usually diagnostic.

• Principles of screening include:

  • Screening tests are performed on all patients of a certain age or with certain risk factors; performing tests when disease is suspected is not screening.

  • Screening tests identify patients at risk of a certain disease who require further workup or diagnostic testing.

  • Ideal screening tests are more sensitive than specific and should be inexpensive and easy to perform.

  • Screening should be used for conditions that benefit from intervention before symptoms appear and for which early treatment improves outcomes.

  • Examples of standardized screening tools include the Ages & Stages Questionnaire (ASQ-3), The Survey of Well-being of Young Children, and The Modified Checklist for Autism in Toddlers (M-CHAT).

Screening Recommendations

Most screening recommendations in pediatrics are made by the American Academy of Pediatrics, the Bright Futures Periodicity Schedule Workgroup (AAP/Bright Futures), and the United States Preventive Services Task Force (USPSTF). Sometimes recommendations are issued by disease-specific organizations or professional societies (e.g., the National Heart, Lung, and Blood Institute) or state governments (e.g., some states require by law more-frequent lead screening in early childhood than is recommended by the AAP/Bright Futures). It is not uncommon for recommendations to differ when research is limited. Decisions on which practices to adopt depend on your own or clinic decisions based on risks and benefits.

AAP/Bright Futures: The AAP/Bright Futures jointly update a schedule of screening and assessment recommendations for preventive pediatric health care in an annual periodicity schedule.

USPSTF: The USPSTF is an independent, volunteer panel whose members are appointed by the Agency for Healthcare Research and Quality (AHRQ). The panel of experts in prevention and evidence-based medicine review evidence and make recommendations for clinical preventive services such as screenings, counseling services, and preventive medications. Recommendations are graded based on the strength of evidence and the balance of benefits and harm, without consideration of cost.

Specific Screening and Prevention Recommendations

The screening recommendations described below are consistent with AAP/Bright Futures unless noted otherwise.

Newborn screen: Typical screenings during the newborn period include bilirubin screening, hearing screening, oximetry screening for critical congenital heart disease (CCHD), and blood test screens for genetic and metabolic diseases. “The newborn screen” typically refers to testing from infant blood spots completed by each state (also sometimes referred to as “the PKU test” because phenylketonuria was one of the first metabolic conditions to be screened for in the newborn or “the Guthrie card,” named after Dr. Robert Guthrie, who developed the PKU screening test in the 1960s).

Each state develops its own list of mandated screens and has a state-level system for follow-up and referral to treatment. Many factors, including social, ethical, and political issues, are considered in the decision to add a screening test. Other factors include disorder prevalence, detectability, treatment availability, outcome, and overall cost-effectiveness. See Conditions Screened by State for your state’s screening panel.

In addition to PKU, as many as 30 conditions can be included in the newborn screen. The blood spot is collected when an infant is age 24 to 48 hours. Some diseases will not be detected if the infant is screened before 24 hours. Some of the most common diseases in the newborn screen include:

• biotinidase deficiency

• congenital adrenal hyperplasia (CAH)

• congenital hypothyroidism (CH)

• congenital toxoplasmosis

• cystic fibrosis

• galactosemia

• homocystinuria

• maple syrup urine disease (MSUD)

• medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

• sickle cell disease (SCD)

Postpartum depression (PPD): From the “baby blues” to postpartum psychosis, the postpartum period is subject to unique mental health concerns for parents. Caregiver depression impacts early child development and is recognized as an adverse childhood experience.

• Postpartum depression affects about 10% of women.

• The AAP recommends screening for PPD at 1-, 2-, 4-, and 6-month well child visits.

• Common screening tools include the Edinburgh Postnatal Depression Scale and the PHQ-2 or PHQ-9 (Patient Health Questionnaire). See also the Screening Tool Finder.

• Postpartum depression is not unique to women; it has recently been recognized that new fathers can also be subject to depression in the postnatal period. The arrival of a new baby in the family can put a strain on everyone. Expanding beyond the research, which is often based on heteronormative assumptions, both birthing and nonbirthing parents may be at risk for PPD.

• No recommendation currently exists to screen for paternal postnatal depression (PPND), but if suspected, the pediatrician should refer to the parent’s primary care physician.

Developmental dysplasia of the hip (DDH): Screening recommendations for DDH have recently been updated. The full recommendations and a discussion of the rationale can be found here.

• The USPSTF found insufficient evidence upon which to make a recommendation.

• The AAP and the American Academy of Orthopaedic Surgeons recommend screening based on physical exam (Ortolani and Barlow maneuvers until 4 months of age, gluteal- or thigh-crease asymmetry, and leg-length discrepancy) at well checks until a child is walking. Risk factors are poor indicators because they are uncommon and not sensitive. Therefore, screening by physical examination should be conducted universally.

• Imaging may be indicated due to suspicious exam findings or presence of risk factors. Hip ultrasound can be performed between the ages of 6 weeks and 4 months. After 4 months of age, plain radiographs should be obtained when concerns arise.

• Risk factors that may prompt imaging in the presence of a normal physical exam include:

  • breech position in the third trimester (regardless of cesarean or vaginal delivery)

  • positive family history

  • history of previous clinical instability

  • parental concern

  • history of improper swaddling

  • suspicious or inconclusive physical exam

Lead: Lead poisoning regained attention in the larger community following the Flint water crisis. A pediatrician and child advocate, Dr. Mona Hanna-Attisha, recognized rising lead levels in the children in her practice and sounded the alarm on lead in the water supply of Flint, Michigan. This prompted recognition and concern that many more communities might have excessive exposure to lead. Effects of lead on health range from gastrointestinal symptoms to decreased IQ and behavioral problems to encephalopathy and death. Risk factors for elevated lead levels are low family income, minority race, urban residence, and living in an older home. Primary prevention through anticipatory guidance to minimize common sources of lead ingestion is the first-line intervention for reducing lead exposure.

• The AAP/Bright Futures Periodicity Schedule does not recommend universal screening. Rather, they recommend risk assessment at ages 6, 9, 12, 18, and 24 months, and at 3-, 4-, 5-, and 6-year well checks, with targeted testing when risk factors are present.

• Universal screening is recommended in communities with known high lead levels, with large tracts of older housing, and in patients with insurance through Medicaid.

• In circumstances where screening applies, blood lead levels are typically tested at 12 and 24 months. As noted above, some states and communities have more-intensive screening (check with your local Department of Public Health or the Toxic-Free Future website).

• Some states and communities require universal screening for young children and provide guidelines for screening prenatally.

Iron deficiency (ID) and iron deficiency anemia (IDA): Adequate iron stores are necessary for neurocognitive development.

• Primary prevention of ID occurs through the promotion of food sources that supply adequate dietary iron.

  • Infants who are fed formula should consume an iron-fortified formula.

  • At 4 months of age, breastfed or partially breastfed infants should receive iron supplementation if they are not starting complementary foods. Supplementation with 1 mg/kg/day of oral iron is recommended to continue until complementary foods, including iron-fortified cereals, are added to the diet.

  • Toddlers should eat a diet with variety including meats and leafy greens. Vitamin C-rich foods like citrus enhance iron absorption. Excessive milk consumption is a common risk factor of ID and IDA in young children.

• Iron also competes with lead, and elevated lead levels work synergistically with iron deficiency anemia to negatively impact neurologic outcomes.

• The AAP recommends universal screening for anemia with measurement of hemoglobin concentration at one year of age.

• Selective screening in response to an assessment for risk factors should continue regularly as described in the periodicity schedule throughout childhood.

• Common risk factors include:

  • history of prematurity or low birth weight

  • exposure to lead

  • exclusive breastfeeding beyond 4 months of age without supplemental iron and weaning to whole milk or complementary foods that do not include iron-fortified cereals or foods naturally rich in iron

  • feeding problems

  • poor growth

  • inadequate nutrition typically seen in infants with special health care needs as well as low socioeconomic status

Oral Health: Oral health is critical to overall health, and the foundation for a lifetime of good oral health is set in childhood.

• Pediatricians are recommended to assess for a dental home at 12- and 18-month well visits and through age 6 years. If a patient is not engaged in a dental home, an oral-health risk assessment should be performed.

• If the primary water source is not fluorinated or insufficiently fluorinated, fluoride supplementation should be recommended and prescribed at the 6- to 12-month and 18-month through 16-year visits. The CDC provides reported community fluoride levels here.

• Once primary teeth have erupted, fluoride may be applied every 3 to 6 months in the medical or dental home.

• Anticipatory guidance regarding risk factors affecting oral health is also essential to primary prevention. See the American Academy of Pediatric Dentistry Guideline on Caries-Risk Assessment and Management for Infants, Children, and Adolescents.

Hearing: Hearing is critical for language acquisition. The goal of early hearing detection and intervention (EHDI) is to identify children who are deaf or hard of hearing and refer to intervention to maximize linguistic competence. The AAP Clinical Report—Hearing Assessment in Infants and Children: Recommendations Beyond Neonatal Screening provides a summary table of audiologic tests for infants and children.

• Universal screening for hearing in the newborn is central. All infants should be screened by one month of age.

• If an infant fails the initial screen, rescreening should be performed for both ears.

• All infants with a failed hearing screening should be referred to audiology by 3 months of age.

• Testing for congenital cytomegalovirus (CMV) is often considered; CMV is a leading cause of sensorineural hearing loss in developed countries.

• All infants who have confirmed hearing loss should be referred for early intervention as soon as possible, but no later than age 6 months.

• Children with hearing loss should have immediate access to assistive technology, including hearing aids, cochlear implants, and other assistive devices as appropriate.

• Some infants may require repeat screening even if the initial screen is normal (e.g., children exposed to ototoxic medications and with prolonged neonatal intensive care unit [NICU] stays).

• Other risk factors for hearing loss include the following:

  • caregiver concern

  • family history of permanent hearing loss

  • neonatal intensive care

  • in utero infections

  • craniofacial anomalies

  • syndromes associated with hearing loss

  • neurodegenerative disorders

  • culture-positive postnatal infections

  • head trauma

  • chemotherapy

  • recurrent or persistent otitis media

The risk of hearing loss is not limited to the newborn period. Hearing loss outside of infancy continues to affect language development and other aspects of learning. Referral to audiology should be considered in patients with language delay.

• After the initial newborn hearing screen, surveillance of developmental milestones, auditory skills, parental concerns, and middle-ear status should continue through infancy.

• Formal screening should be performed again at 4-, 5-, 6-, 8-, and 10-year well checks.

• Screening in adolescents should include screening for high-frequency hearing loss once between ages 11 and 14 years, once between 15 and 17 years, and once between 18 and 21 years.

• Children with positive screens should be referred for follow-up. Unfortunately, a significant number of children are not referred or do not receive appropriate follow-up, creating a missed opportunity for critical development and rendering screening a waste.

Vision:

• A visual acuity screen is recommended at ages 4 and 5 years, as well as in cooperative 3-year-olds. Children should test to 20/40 or better on age-appropriate charts with one eye occluded and have no more than two lines different between eyes.

• Testing is recommended again at 6, 8, 10, 12, and 15 years old. After age 5, children should test to 20/30 or better and should have no more than two lines different between eyes.

• The AAP/Bright Futures and the United States Preventive Services Task Force (USPSTF) recommend screening to detect amblyopia, strabismus, and defects in visual acuity in children younger than 5 years.

• Infants and young children (before visual acuity testing is performed) and between visual acuity testing in children should be assessed for risk with the following as appropriate:

  • history

  • exam to include external inspection

  • red reflex testing

  • pupil examination

  • ocular motility

  • ability to fix and follow

  • cover-uncover test

Tuberculosis: The prevention strategy for tuberculosis (TB) in the United States is routine risk assessment and targeted screening for those recognized to be at high risk. Testing should also be done for any patients with clinical concern regardless of risk.

• Risk assessment is recommended at ages 1, 6, and 12 months and then annually thereafter.

• Common risk factors for TB in children include:

  • exposure to a family member or close contact with TB disease

  • birth in or travel for more than one week to a high-risk country (countries other than the United States, Canada, Australia, New Zealand, or in Western or Northern Europe)

  • time spent homeless or in a homeless shelter

• Screening is typically performed with a tuberculin skin test (i.e., purified protein derivative, or PPD). An interferon-gamma release assay (IGRA) may be considered and even preferred for children 2 years of age and older. Consult the AAP Red Book or local protocols.

Dyslipidemia: The AAP/Bright Futures, along with the National Heart, Lung, and Blood Institute (NHLBI), recommends screening for hyperlipidemia in all children age 9 to 11 years and again at age 17 to 21 years (see Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents). The USPSTF concluded that evidence was insufficient to recommend screening for lipid disorders in children and adolescents 20 years or younger.

In addition to universal screening, selected screening for dyslipidemia is recommended based on risk factors in children with the following conditions:

Blood Pressure: Blood pressure should be assessed at annual well visits for all children starting at age 3 years. Prior to that, screening should be performed if risk factors are present.

Depression: Depression screening should be conducted annually starting at 12 years of age. Many screening instruments are available. The PHQ-2 or -9 is a brief, commonly used tool. Other mental health screening tools for pediatrics are reviewed here.