There is adequate evidence for screening neonates for hemoglobinopathies, congenital hypothyroidism, phenylketonuria (strength of recommendation [SOR]: A), and cystic fibrosis (SOR: B). Vision screening should be done for those younger than age 5 years (SOR: B). High-risk children should be tested for tuberculosis (TB) (SOR: B) and lead toxicity (SOR: B). Few data exist to guide frequency and timing of these screening tests, so the following timing recommendations are based on consensus opinion (SOR: C): test for visual acuity yearly starting at age 3 years; test for TB and lead once between the ages of 9 and 12 months, and repeat for high risk or exposure

Biagioli, Frances E.

DeVoe, Jennifer E.

Hamilton, Andrew

University of Missouri: MOspace

VOL 55, NO 9 / SEPTEMBER  2006 803w w w. j f p o n l i n e . c o mFrom the Family PhysiciansInquiries NetworkCLINICAL INQUIRIESWhat are appropriate screeningtests for infants and children?Frances E. Biagioli, MD,Jennifer E. DeVoe, MD,DPhil, Andrew Hamilton,MS, MLSOregon Health & ScienceUniversity, PortlandE V I D E N C E - B A S E D A N S W E RThere is adequate evidence for screeningneonates for hemoglobinopathies, congeni-tal hypothyroidism, phenylketonuria (strengthof recommendation [SOR]: A), and cysticfibrosis (SOR: B). Vision screening should bedone for those younger than age 5 years(SOR: B). High-risk children should be test-ed for tuberculosis (TB) (SOR: B) and leadtoxicity (SOR: B). Few data exist to guide frequency and timing of these screeningtests, so the following timing recommenda-tions are based on consensus opinion(SOR: C): test for visual acuity yearly startingat age 3 years; test for TB and lead oncebetween the ages of 9 and 12 months, andrepeat for high risk or exposure.Obtain family history; order additionalscreening tests if history suggests themWhy do states differ so much in the neo-natal screening tests that they routinelyperform? Some states screen for only afew genetic diseases, others for more than40. Most states do neonatal hearingscreening despite limited evidence of utility,while only one quarter of all states haveneonatal cystic fibrosis screening pro-grams, a condition for which there is prob-ably better evidence for screening. Whilewe might like to think that good sciencealone would dictate screening policy, theeconomic circumstances of each state,variable interpretation/quality of theresearch reviewed, and legislative priorities(among many reasons) probably play atleast as much a roll. For any test, its accu-racy is only as good as the pretest proba-bility of the disease for which it is beingused. Our yield for cystic fibrosis screeningwill be higher in families with a history ofcystic fibrosis. This is the key point—youstill need to obtain a family history andorder additional screening tests if the history suggests them.Vince WinklerPrins, MD, FAAFPMichigan State University, East LansingC L I N I C A L C O M M E N TA R Yz Evidence summaryThere are many opinions and recommen-dations about what constitutes qualityhealth surveillance for children. However,many screening tests for children lack evi-dence of effectiveness and information onharms.1 The scope of this question requireduse of evidence published in high-qualitysystematic reviews. The US PreventiveServices Task Force (USPSTF) provides themost rigorous evidence on which to baserecommendations.2 Medline was searchedfor any additional individual studies ofinterest. The USPSTF has conductedreviews for selected screening tests for chil-dren; the TABLE summarizes those withsufficient evidence to recommend them.We identified 1 additional evidence-basedrecommendation from the Centers forDisease Control and Prevention. ThisC O N T I N U E D What are appropriate screening tests for infants and children? sVOL 55, NO 9 / SEPTEMBER  2006 807w w w. j f p o n l i n e . c o mreport, based on a systematic review, rec-ommends cystic fibrosis screening inneonates based on moderate benefits andlow risks of harm.3The TABLE summarizes the evidencesupporting universal childhood screeningfor hemoglobinopathies, congenital hypo-thyroidism, phenylketonuria, and visualdefects; and high-risk childhood screeningfor tuberculosis and lead toxicity. TheTABLE also lists the recommendations fromthe American Academy of Pediatrics(AAP) on frequency and timing of screen-ing as guided by consensus opinion.The USPSTF recommendations sup-porting screening for hemoglobinopathies,congenital hypothyroidism, and phenyl-ketonuria are considered standard of care.The USPSTF believes that updating these1996 recommendations would have littleimpact on clinical practice. The USPSTF recommendations sup-porting vision screening found no directevidence supporting screening for visualTA B L ETEST (SOR) POPULATION USPSTF COMMENTS AAFP AAPUNIVERSAL SCREENINGNeonatal Newborns Strongly recommends Recommends oncehemoglobinopathy (A) at 2 to 4 days of life,but before age 1 monthNeonatal Newborns—repeat at Strongly recommendsphenylketonuria (A) 2 weeks if <24 hrs old at dischargeCongenital Newborns Strongly recommendshypothyroidism (A)Vision screening for Before age 5 Type of screening tests Recommends Start objective testingstrabismus, amblyopia, vary with age; evidence yearly at age 3and refractive error (B) inadequate to recommend specific test HIGH-RISK SCREENINGPPD test for Children at high-risk Risks for TB: HIV, close Strongly recommends Screen high-risktuberculosis (A) for TB contacts of persons with TB, screening high-risk children at 12 monthsimmigrants from countries children and or upon recognitionwith high TB prevalence, of high-risk factorslow income populations,and residents of long-term care facilitiesLead toxicity (B)* Infants at risk at 12 Risks for lead† Screen infants Screen high-riskmonths of age at risk at high risk infants at 9 to 12for lead exposure months. Repeat at age 24 months for those at high-risk* This document is currently being updated; the recommendation may or may not change.† Risk are living in a house older than 1950 with peeling paint or remodeling, living near heavy traffic or lead industry, living with someone who has elevatedlead levels or whose job/hobby involves lead exposure, using lead-based pottery, or taking remedies that contain lead.AAFP: American Academy of Family Practice recommendations from: www.aafp.org/PreBuilt/RCPS_August2005.pdf.AAP: American Academy of Pediatrics recommendations from: aappolicy.aappublications.org/cgi/content/full/pediatrics;105/3/645.US Preventive Services Task Force evidence-supported testing for childrenacuity. One fair-quality controlled study(N=3490) showed a decreased prevalenceof amblyopia in the screened group andevidence that treatment of amblyotic riskfactors prevents amblyopia. A Cochranereview of this topic showed insufficientevidence for visual screening of older(school-aged) children; for amblyopia, nodata sufficient for analysis was found.4,5The USPSTF recommendation toscreen asymptomatic high-risk children forTB is based on the effectiveness of earlyintervention (14 controlled trials) and theaccuracy of the Mantoux test. The USPSTF document on screeningfor lead levels is currently being revisedand the recommendation may change.Although no controlled studies directlyshow that screening high-risk children forlead exposure improves clinical outcomes,several lesser-quality studies create a logi-cal path to this conclusion.The USPSTF finds there is insufficientevidence to recommend for or against per-forming the following screening tests inchildren: blood pressure screening; screen-ing for overweight in children and adoles-cents; and iron deficiency screening inasymptomatic infants. Both CochraneSystematic Reviews and USPSTF foundinsufficient evidence to support universalhearing screening, including neonatal hear-ing screening.6 The USPSTF makes no rec-ommendation regarding screening high-risk children for hyperlipidemia. The USPSTF recommends that the fol-lowing tests should not be performed inchildren because there is good evidencethat the harms outweigh the benefits: thyroid cancer screening in children andbacteriuria screening in asymptomaticnonpregnant children.Recommendations from othersThere are numerous guidelines recom-mending various sets of preventive servicesfor children, but there are few evidence-based recommendations. The AAP recom-mendations can be found in Guidelines forHealth Supervision III.7 The AAP alsopublishes policy statements and guidelinesin the journal Pediatrics. The AmericanAcademy of Family Practice’s (AAFP) rec-ommendations on health supervision canbe found at: www.aafp.org/PreBuilt/RCPS_August2005.pdf. A summary of the AAFP and the AAPrecommendations on each of the USPSTFsupported tests is in the TABLE. WhileAAFP and USPSTF recommendations con-cur, AAP recommendations differ in rec-ommending hearing screening for all new-borns, iron deficiency screening at 9months of age, screening for lipid disordersin children at risk starting at 24 months,and screening urinalysis at age 5 years. R E F E R E N C E S1. Moyer VA, Butler M. Gaps in the evidence for well-childcare: A challenge to our profession. Pediatrics 2004;114:1511–1521.2. US Preventive Services Task Force. Guide to ClinicalPreventive Services [website]. Available at: www.ahrq.gov/clinic/cps3dix.htm. Accessed on June 28, 2006.3. Grosse SD, Boyle CA, Botkin JR, et al. Newborn screeningfor cystic fibrosis: evaluation of benefits and risks and rec-ommendations for state newborn screening programs.MMWR Recomm Rep 2004; 53(RR-13):1–36.4. Powell C, Porooshani H, Bohorquez MC, Richardson S.Screening for amblyopia in childhood. Cochrane DatabaseSyst Rev 2005; (3):CD005020.5. Powell C. Wedner S. Richardson S. Screening for cor-rectable visual acuity deficits in school-age children andadolescents. Cochrane Database Syst Rev 2005;(1):CD005023.6. Puig T. Municio A. Meda C. Universal neonatal hearingscreening versus selective screening as part of the man-agement of childhood deafness. Cochrane Database SystRev 2005; (2):CD003731.7. Guidelines for Health Supervision III. Elk Grove Village, Ill:American Academy of Pediatrics; 1997. (Updated 2002).USPSTF’s recommendationon screening for lead levels is being revisedand may change808 VOL 55, NO 9 / SEPTEMBER  THE JOURNAL OF FAMILY PRACTICEFAST TRACKCLINICALINQUIRIES

What are appropriate screening tests for infants and children?

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