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The National Center on Birth Defects andDevelopmental Disabilities

Past, Present, and Future

Coleen A. Boyle, PhD, MS hyg, José F. Cordero, MD, MPH, Edwin Trevathan, MD, MPH

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TheNational Center on BirthDefects andDevelop-mentalDisabilities (NCBDDD)was established inApril 2001 as a result of The Children’s Health Act

f 2000.1 The supporters of the center’s creation wantedo raise the visibility of child health and disability at theDC. From its inception, the NCBDDD included thestablished programs in birth defects, genetic disorders,evelopmental disabilities and disabilities and health,ith a more than 30-year history in surveillance, re-earch, and public health practice, including the trainingf public health professionals in these respective fıelds.In 2003, the NCBDDD expanded with the addition of

he blood disorders program, which initially had beenstablished in response to the discovery that HIV, aloodborne infection, highly affected people with hemo-hilia who required treatments using blood products.his led to the development of a comprehensive programo ensure optimal care for this and other populationsffected by nonmalignant blood disorders.2 The currentpaper examines thehealth impact of the center’swork thatwashighlightedinayear-longreflection,“10YearsofService”3;andprovides a framework for how the NCBDDD will move for-wardwitharenewedemphasisonenhancingpublichealthandhealthcare-systemcapacitytohavegreaterhealthimpactforthepopulations served.

10 Years of Service: 10 Years of Makinga DifferenceIn 2001, guided by earlier NCBDDD scientifıc fındings,the center published the fırst evaluation showing thatfolic acid fortifıcation of enriched cereal grain productsreduced the prevalence of neural tube defects (NTDs) inthe U.S. by 31%.4 As a result of the implementation ofmandatory folic acid fortifıcation in theU.S., theNCBDDDestimates that each year, 1000more babies are bornwithout

From the National Center on Birth Defects and Developmental Disabilities(Boyle), CDC, Atlanta, Georgia; the School of Public Health (Trevathan),St. Louis University, St. Louis, Missouri; and Graduate School of PublicHealth (Cordero), University of Puerto Rico, San Juan, Puerto Rico

Address correspondence to: Coleen A. Boyle, PhD, MS hyg, NationalCenter onBirthDefects andDevelopmentalDisabilities, CDC, 1600CliftonRd, Atlanta GA 30333. E-mail: cboyle@cdc.gov.

0749-3797/$36.00http://dx.doi.org/10.1016/j.amepre.2012.08.015

Published by Elsevier Inc. on behalf of American Journal of Preventive

an NTD.5 Given the progress in preventing NTDs in theU.S.,5 the NCBDDD has turned its attention to the globallimination of folic acid–preventable NTDs with initial ef-orts in Southeast Asia where the prevalence of this condi-ion is highest.6

Being vigilant and responding quickly to health threatsis a critical activity for the NCBDDD. As an example, in2002, in collaboration with the Food and Drug Adminis-tration, scientists at the center found that children with acochlear implant were much more likely to develop bac-terialmeningitis than children in the general population.7

As a consequence, the cochlear device associated with thehighest risk of meningitis was withdrawn from the mar-ket, clinical treatment guidelines were revised for newand current device recipients, and national vaccine rec-ommendations were strengthened so that cochlear im-plant recipients would be considered a high-risk groupduring times of vaccine shortage.8

Deep vein thrombosis (DVT) is a common and seriousblood disorder. In 2003, under the guidance of theNCBDDD,more than 60 organizations assembled at the Public HealthLeadership Conference onDVT to discuss the urgent need tomakethisconditionamajorU.S.publichealthpriority.In2008,theNCBDDDsupportedtheSurgeonGeneral’s“Call toActiontoPreventDeepVeinThrombosis(DVT)andPulmonaryEm-bolism,” which highlighted the public health need for preven-tion, with more than 600,000 people developing a DVT and100,000deathseachyear.9PreventionofDVT,particularly thatssociatedwith hospitalization, has become anNCBDDDpri-rity.Theworkwill focusonsystem-level strategies to improveptakeofhospitalprotocols forDVTpreventionandthedevel-pment of a monitoring system to track compliance and thempact of thesemeasures onDVTprevention.10

In 2004, the NCBDDD, working with many partnersincluding American Academy of Pediatrics, AutismSpeaks and the Autism Society, launched the “Learn theSigns. Act Early.” campaign. This effort was focused onthe importance ofmonitoring a child’s development, andincreasing knowledge of early signs of autism and otherdevelopmental disabilities; emphasis was placed on en-couraging parents and healthcare providers to act early ifa delay in development is suspected. An evaluation of the

campaign showed an influence on provider and parent

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knowledge about these important actions.11 The cam-paign also triggered educational efforts to increase earlydiagnosis and intervention to mitigate the challengingbehaviors often associated with autism. The work of theNCBDDD in this area has now expanded to support stateand local efforts to integrate the complex health andeducation systems involved in early screening, diagnosis,and referral for services for children with developmentaldelays.The NCBDDD was a leader in the national efforts to

identify disability as a major public health issue. Thiseffort included the 2005 Surgeon General’s “Call to Ac-tion to Improve the Health andWellness of Persons withDisabilities” and the 2007 IOM’s report, “The Future ofDisability in America.”12,13 These reports resulted in anppeal to all Americans to help improve the quality of lifeor people with disabilities through better health care andnderstanding. Integration of the needs of people withisabilities intomainstreamhealthpromotionprograms, im-roving healthcare access, and ensuring that emergency pre-aredness programs reach people with a range of functionalisabilities are key priorities for the NCBDDD. The center isorking to align funded state public health programs andrants to consumer and support groups with the three priori-ies.Promotingdisability inclusionintotheCDC’smainstreamublic health surveys andprograms is also a toppriority.In 2006, the NCBDDD and its partners initiated aational campaign to promote and improve the precon-eption health of women, couples, and families. As aesult, the fırst national preconception conference wasonvened, and national guidelines for improving precon-eption health and health care were published as part ofn MMWR Reports and Recommendations.14 This semi-nal work has reframed the focus of healthy mothers andhealthy pregnancies from the prenatal period to one thatencompasses pregnancy planning and preconceptionhealth as critical for healthy babies. Efforts have resultedin an IOM report recommending preconception healthas an essential women’s health service.15 Similarly, theWHO is undergoing a revision of their maternal, infant,and child health life span framework to include a precon-ception health component.In 2007, through the Autism and Developmental Dis-

abilities Monitoring Network, the NCBDDD issued itsfırst report on the prevalence of autism spectrum disor-ders (ASDs), indicating an average of one in 152 childrenaged 8 years identifıed with autism.16 This was followedby reports in 2009 and 2012 updating the prevalenceestimate to an average of one in 88 children with anASD.17,18 The NCBDDDwill continue to work with statehealth departments and other partners to monitor trendsand prioritize resources and activities in order to under-

stand why the prevalence is changing.

Also over this time frame, the NCBDDD-supportedNational Birth Defects Prevention Study, conducted innine sites in the U.S., showed the important role of anumber of modifıable maternal risk factors (e.g., preex-isting chronic medical conditions) in the risk of birthdefects. Among these risk factors was maternal prescrip-tion medication use (e.g., selective serotonin-reuptakeinhibitors, opioid analgesics, and asthma medica-tions).19–21 This growing body of evidence highlights theeed for accurate data to informwomen and their health-are providers about safe use ofmedications in pregnancynd sparked the NCBDDD “TRxeating for Two”initiative.Finally, based on the results of an NCBDDD-spon-

sored clinical trial of regular presymptomatic infusionswith Recombinant Factor VIII, this preventive treatmenthas become the standard of care in the U.S. for peoplewith hemophilia, subsequently leading to important re-ductions in the joint pain and other complications perva-sive in this disorder.22 The NCBDDD is updating itsomprehensive surveillance program for hemophilia todentify other health-promoting treatment strategies,articularly as the population of people with hemophiliages.Data for action are at the core of the NCBDDD mis-

ion. Two recent projects are important examples of howata are provided to positively influence populationealth. First, in 2009, the NCBDDD, in collaborationith the NIH’s National Heart Lung and Blood Institute,eveloped a model surveillance system for sickle cell dis-ase (SCD) and thalassemia called the Registry and Sur-eillance for Hemoglobinopathies (RuSH), the fırst-everystem of its kind. This effort will provide much-neededata to understand gaps in healthcare delivery of life-rolonging therapies for SCD. Second, to identify sys-em-level opportunities for the NCBDDD’s priorities onisability, in 2011, the NCBDDD released a web-basedtate-specifıc data system, the Disability and Health Dataystem, which aggregates key risk factor and other dis-arity data from CDC’s Behavioral Risk Factor Surveil-ance System by disability status. This electronic applica-ion will provide ongoing information to guide healthromotion and healthcare policy decisions at the federalnd state levels.

Partnerships for Health PromotionMuch of the work of the NCBDDD during the past 10years would not have been possible without the supportof key partners and constituents. A series of fıeld eventsand activities were held inAtlanta GA,Denver CO, Tren-ton NJ, Nashville TN, and Washington DC to showcase

the important work of our collective organizations. Each

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event highlighted an NCBDDD priority and featuredpeople in the local community who helped to championthe work of the center.

Building the FutureTo commence the second decade, theNCBDDDdevelopeda 5-year strategic plan. The plan was guided by a series offormal peer-reviewed program evaluations conducted in2006–2007, coupled with an internal process of prioritiza-tion that relied on a standard set of public health criteria.Emphasis was placed on those activities that could havedemonstrable health impact in the next 3–5 years. A draft ofthe plan was vetted with stakeholders representing the cen-ter’s various populations. The foundation of the planwas toidentify and commit to accomplishing activities in six focusareas. Although the selected focus areas did not indicate alessening of commitment to other important work, theywere highlighted in the plan to ensure alignment of theNCBDDD’s strengths and resources with critical needs andexisting opportunities in an effort to positively affect rele-vant populations under its purview.The six focus areas are to:

● prevent major birth defects attributable to maternalrisk factors, with an initial focus on the global elimina-tion of folic acid–sensitive NTDs and the prevention ofbirth defects associated with teratogenic exposures in-cluding prescription and over-the-counter medica-tions and alcohol;

● enhance tracking, research, and awareness of ASDs tomonitor changes in occurrence, identify preventablerisk factors, and facilitate early diagnosis;

● prevent death and disability associated with DVT/pul-monary embolism, with a focus on such events associ-ated with hospitalization;

● prevent and control complications of SCD throughimproved uptake of preventive treatments;

● reduce disparities in obesity and other health indica-tors in children, youth, and adults with disabilitiesthrough general and targeted health promotion;

● promote inclusion of disability intomainstream publichealth, with a focus on the use of disability identifıers inCDC surveys and surveillance systems and integratingdisability into key CDC public health promotion pro-grams and research.

Non Satis Scire: “To Know Is Not Enough”In addition to the traditional public health approaches thatengage research, surveillance, and policy, the NCBDDD’s fu-ture focuswill engage system-level strategies topositively influ-ence health by closing the gap between existing public health,

clinical, and biomedical interventions and their application,

ecember 2012

andfull implementationonapopulationlevel.Forinstance, it isestimated that40%ofdeaths fromDVT/pulmonaryembolismcould be prevented if guidelines for appropriate prophylaxiswere fully implemented within the hospital setting.23 TheCBDDDwill work with other federal agencies, hospitalssociations, and clinical professional groups to devise atrategy to affect uptake and effective use of the evidence-uided recommendations.Similarly, data are accumulating for clinical decisionaking about the safe use of specifıcmedications in preg-ancy. However, this information is not uniformly eval-ated and readily available or easily interpreted by health-are providers and consumers. The NCBDDDwill take aeadership role in engaging other invested federal agen-ies (e.g., Food and Drug Administration and the NIH)nd professional organizations (e.g., American Congressf Obstetricians and Gynecologists) to develop an ongo-ng systematic review process to evaluate the accumulat-ng evidence on maternal and fetal risk associated withommonly used prescription medications and develop aealth information framework for its dissemination torimary healthcare providers and consumers.

ConclusionThe 10 years since the creation of the NCBDDD has seenimportant changes in the health of the populations thatare included in the center’s mandate. In moving forward,the NCBDDD has identifıed a number of achievable pri-orities that will guide its work over the next decade. Therecognition that the greatest impact occurs through policy-and systems-level applications will influence how the workgets done. Although the center is only one player amongmany, it is emboldened to take a leadership role as con-vener in moving these priorities forward.

The authors thank Dr. Christopher Parker for his creative vi-sion and guidance in developing this paper.The fındings and conclusions in this paper are those of the

authors and do not necessarily represent the offıcial position ofthe CDC.No fınancial disclosures were reported by the authors of this

paper.

References1. H.R. 4365: Children’s Health Act of 2000 Public Law No: 106-310.2. Atrash HK, Parker CS. The public health response to blood disorders.

Am J Prev Med 2010;38(4S):S451–S456.3. CDC. National Center on Birth Defects and Developmental Disabilites

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