Promoting Optimal Development: Identifying Infants and Young Children With Developmental Disorders Through Developmental Surveillance and Screening

Step 1: Patient Without Identified Risks or Developmental Problems Arrives for Health Supervision Visit

A parent’s or professional’s developmental concerns should be addressed by the pediatric health care professional as part of developmental surveillance at each pediatric health supervision visit throughout the first 5 years of life, as outlined in the AAP Bright Futures, Fourth Edition and related national health promotion and prevention initiative.^16,17 In multiple studies, researchers have shown that developmental disorders are detected at low rates when physicians rely on judgment alone.²⁸ Including developmental screening tests at targeted ages enhances the precision of the developmental surveillance process.²⁹

The recommended ages for developmental screening at the health supervision visit are a starting point for children who are without known identified risks and are not suspected of having a developmental concern. Because development is dynamic in nature and surveillance has limits, periodic screening with a validated instrument should occur so that a developmental concern not detected by surveillance or an earlier screening can be detected by subsequent screening. Using a validated developmental screening test at the 9-, 18-, and 30-month visits is outlined in Bright Futures, Fourth Edition.^16,17 Developmental surveillance should continue through childhood, including surveillance at the 4- or 5-year visit as a child prepares to enter elementary school. Any time that parents, professionals, or others involved in the care of the child raise concerns during surveillance, it is appropriate to perform additional developmental screens using validated tests. These screenings should be recognized separately, with appropriate coding, billing, and payment and with the additional cost acknowledged in capitated expectation (see Supplemental Information).

Given that developmental and behavioral risks increase with age, a child identified with risks or concerns may merit at least annual formal screening if concerns continue to be identified through surveillance.

Step 2: Is This a 9-, 18-, 24-, or 30-Month Visit?

All children should receive periodic developmental screening using a standardized test. In the absence of established risk factors or parental or provider concerns, a general developmental screen continues to be recommended at the 9-, 18-, and 30-month visits. Screening for behavioral and emotional problems is recommended at the same time points, at a minimum.⁵ In addition, screening for ASD is recommended at the 18- and 24-month visits.³⁰

In addition, to identify problems not previously recognized in earlier screenings and to identify issues with regard to developmental skills necessary for school readiness,³¹ surveillance, with close attention to these developmental skills necessary for school readiness, should be performed at the 4- or 5-year visit, with screening performed when concerns are noted. Additional information about the pediatrician’s role in promoting school readiness, as well as developmental surveillance for school readiness, can be found in the AAP policy statement, “The Pediatrician’s Role in Optimizing School Readiness.”³¹ Given the lack of strong evidence validating screening at the 4- to 5-year visit, universal screening is not presently recommended as part of the periodicity schedule.

Step 3: Administer Screening Test

The administration of a brief, standardized screening test helps identify children at risk for a developmental disorder. Well-validated screening tests can be completed by parents and scored by office staff. The pediatric health care professional interprets the screening results.

Developmental screening does not result in a diagnosis but rather identifies areas in which a child’s development differs from same-aged norms. Repeated and regular screening is more likely than a single screen to identify problems, especially in skills that develop later, such as language. Waiting until a young child misses a major milestone may result in late rather than early recognition, increasing parental dissatisfaction and anxiety, and can deprive the child and family of the benefits of early identification and intervention.

A table of developmental screening tests is included in this document (Supplemental Table 1), and a discussion of how to choose an appropriate screening test is included in the section below entitled “Implementing the Algorithm.”

Step 4: Perform Physical Examination and Routine Developmental Surveillance (Including Risk Factor Assessment)

When the results of the periodic screening test are normal, the pediatric health care professional can inform the parents that, at this time, the child is at low risk for a developmental disorder and continue with other aspects of the health supervision visit.¹⁷ Normal screening results provide an opportunity to focus on developmental and behavioral health promotion.⁴⁴

Developmental surveillance continues to be defined with this report as a flexible, longitudinal, continuous, and cumulative process in which knowledgeable health care professionals identify children who may have developmental problems.^1,45 Surveillance also can be useful for determining appropriate referrals, providing patient education and family-centered care to support healthy development, and monitoring the effects of developmental health promotion through early intervention and therapy. Because a great breadth and depth of information, including health and developmental risk factors and previous screening results, is accumulated across a child’s life through developmental surveillance, relevant developmental information should be flagged and available for review before or at each visit.

Developmental surveillance has 6 components: (1) eliciting and attending to the parents’ concerns about their child’s development; (2) obtaining, documenting, and maintaining a developmental history; (3) making accurate and informed observations of the child; (4) identifying risks and strengths and protective factors; (5) maintaining an accurate record of the process and findings; and (6) sharing and obtaining opinions and findings with other professionals, such as child care providers, home visitors, preschool teachers, and developmental therapists, especially when concerns arise.⁴⁵ In this updated report, additional emphasis is added to surveillance on the obtaining and sharing of information with professionals from outside of the medical home.

Step 5: Does the Screening Suggest a Motor Concern?

If the screening results suggest a motor concern, a motor disorder evaluation should be conducted (see Step 7: Perform Motor Disorder Evaluation).

Step 6: Is the Screening Result Concerning?

If screening results are negative or not concerning, the pediatric health care professional can proceed to Step 10: Unaddressed Concern From Surveillance? If there is an unaddressed concern, identify the concern in the record system and set an early return flag before proceeding to Step 13. If there is no concern, proceed to Step 13: Perform Remainder of Health Supervision Visit. If screening results are concerning, a focused history and physical examination should be completed to identify any previously undetected medical conditions (see Step 8: Perform Complete Medical Evaluation below). The physical examination should target physical stigmata suggestive of an underlying genetic abnormality. The neurologic examination may suggest an underlying neurologic condition. The general physical examination may identify undetected medical conditions (eg, cardiac, renal, hematologic disease).

For a child who is determined by the pediatric health care professional to be at increased risk for a developmental disorder on the basis of medical, environmental, or social factors, referral to early intervention (under IDEA Part C^23,67) or preschool special education (under IDEA Part B)^23,68 is recommended.

Reassurance has a role in the clinical encounter but varies depending on the progress and outcome of developmental surveillance and screening. Reassurance should be rooted in and reference the findings of developmental surveillance and screening. If, for example, developmental surveillance or screening does not identify a concern, specific, simple, age-specific developmental goals can be identified, and parents can be encouraged to schedule follow-up appointments if the child is not attaining those goals. Discussion of normal screening results should also include promotion of developmental and behavioral skills. In reassuring the parents, the pediatric health care professional should emphasize the importance of continual surveillance and screening. Enrollment in Early Head Start or Head Start, child care, or early childhood education should be considered, if appropriate.

Step 7: Perform Motor Disorder Evaluation

The child with motor concerns identified on surveillance and/or screening should undergo a comprehensive neurologic examination. When tone is increased, brain imaging should be considered. The child with normal or decreased tone should have laboratory testing of creatine kinase and thyroid-stimulating hormone.³ More detailed guidance can be found in the AAP clinical report “Motor Delays: Early Identification and Evaluation.”³

Step 8: Perform Complete Medical Evaluation

A medical diagnostic evaluation should be undertaken to identify an underlying etiology when the child’s development is concerning or a delay is confirmed. This evaluation should consider biological, environmental, and established risk factors for delayed development.^69–72 Audiologic evaluation should be performed for the child with a developmental concern. Vision screening,¹⁵ review of newborn metabolic screening and hearing screening, growth review, and an update of environmental, medical, family, and social history for additional risk factors are also integral.

Further medical evaluation will vary with the risk factors, and findings may suggest further genetic, neurologic, metabolic, or other medical testing. The child with suspected global developmental delay or intellectual disability should have laboratory testing done, including chromosomal microarray and fragile X testing.³⁰ Metabolic testing should be considered if indicated by history and physical examination.⁷³ Further testing may be indicated when a diagnosis is not established with initial laboratory evaluation, including whole exome sequencing and gene panels. Brain imaging should be considered in the presence of abnormal neurologic examination, microcephaly, macrocephaly, or other clinical indicators. The initial genetic workup of the child with suspected ASD is evolving; current recommendations also include chromosomal microarray and fragile X testing.³⁰ Consultation with a medical geneticist to help guide the genetic workup should be considered. The pediatric health care professional should make additional specialty referrals as needed or when additional testing is warranted.

Identification of an etiology may give parents a greater depth of understanding of their child’s disability. It also can affect various aspects of treatment planning, including specific prognostic information, genetic counseling around recurrence risk and heritability, specific medical treatments for improved health and function of the child, and therapeutic intervention programming.⁷⁴ This evaluation can be initiated by a general pediatrician or through a pediatric medical subspecialist, such as a neurodevelopmental pediatrician, pediatric neurologist, developmental-behavioral pediatrician, pediatric geneticist, or pediatric physiatrist. The pediatric health care professional within the medical home should develop an explicit comanagement plan with subspecialist(s) and care coordination with the family.

Step 9: Perform or Refer for Developmental Evaluation and Refer to Early Intervention or Early Childhood Education

If screening results performed either in the primary care medical home or in the child’s child care or preschool are concerning, the child should have a comprehensive developmental evaluation performed. This evaluation may occur at a different visit or in a series of visits in the primary care medical home or in a different setting by developmental or other medical professionals. The visits should be scheduled as quickly as possible, and professionals should coordinate activities and share findings. Tracking of referrals should be incorporated to ensure follow-up.

Step 10: Unaddressed Concern From Surveillance?

If concerns were raised during developmental surveillance (see Step 4: Perform Physical Examination and Routine Developmental Surveillance), but a disorder or condition was not identified, the pediatric health care professional should document the concern in the practice’s record system (see Step 11: Identify Concern in Record System) and continue to monitor the child’s developmental progress. An early return visit is recommended to provide additional developmental surveillance (see Step 12: Set Early Return Flag). Likewise, if concerns were raised during developmental surveillance (Step 4) but developmental screening was unable to be completed, the concern should be noted in the record system (Step 11) and flagged for an early return visit (Step 12), and the return visit should be held as soon as possible. If concerns are significant, then direct referral to early intervention is appropriate.

Step 13: Perform Remainder of Health Supervision Visit

When the results of the periodic screening test are normal (Steps 4 and 6), the pediatric health care professional can inform the parents that at this time, the child is at low risk for a developmental disorder, and continue with other aspects of the preventive visit.¹⁷ Discussion of normal screening results provides an opportunity to focus on developmental and behavioral promotion using a strengths-based approach.

If developmental surveillance did not identify a concern and the child was not at high risk for or identified with a developmental or behavioral disorder or a chronic health condition, the pediatric health care professional should schedule the next health supervision visit after completing the examination and visit.

Steps 14 and 15: Developmental Diagnosis Established? and Initiate Chronic Condition Management

When a developmental disorder has been diagnosed in a child, that child meets the criteria for a child with special health care needs.⁶⁰ The child should be identified by the medical home for appropriate chronic condition management and regular monitoring and entered into the practice’s registry of children and youth with special health care needs.⁶⁰

The child may be assigned a care coordinator from the practice or from the community who will work with the family to ensure that all needed services can be accessed. Proactive care planning is needed, and routine follow-up with the medical home between health supervision visits may be warranted to assess progress and minimize unmet family needs.

The child health professional should actively participate in all care coordination activities for children who have complex health conditions in addition to developmental problems. Decisions regarding appropriate therapies and their scope and intensity should be determined in consultation with the child’s family, therapists, and educators (including early intervention or school-based programs) and should be based on knowledge of the scientific evidence for their use.

Children with established developmental disorders often benefit from referral to community-based family support services, such as respite care, parent-to-parent programs, Parent Training Information Centers (http://www.parentcenterhub.org/find-your-center), and advocacy organizations. Some children may qualify for additional benefits, such as Supplemental Security Income, public insurance, waiver programs, and state programs for children and youth with special health care needs (Title V Maternal and Child Health Block Grant Programs).⁸⁰ Parent organizations, such as Family Voices,⁸¹ Family-to-Family Health Information Centers,⁸² and condition-specific associations, can provide parents with information and support and can provide an opportunity for advocacy.

Choosing Developmental Screening Tests

No single screening test is appropriate for all children of all ages. Currently available screening tests vary from broad general developmental screening tests to those screening for specific conditions, such as ASD, and others that focus on specific areas of development, such as communication skills. Broad screening tests are designed to address all developmental domains, including fine and gross motor development, language and communication, cognitive development, adaptive development, and social-emotional development. Their psychometric properties vary in characteristics, such as their standardization, the comparison group used for determining sensitivity and specificity, and population risk status. Screening tests also need to be culturally and linguistically sensitive.

Many screening tests are available, and the choice of which test to use depends on the population being screened, the types of problems being screened for in that population, administration and scoring time, any administration training time, the cost of the test, ease of fit into practice workflow, and the possibilities for adequate payment.

Screening tests should be both reliable and valid, with good sensitivity and specificity. Positive predictive value (PPV) and negative predictive value (NPV) must also be considered. A test that incorrectly identifies a child as delayed will result in overreferrals. A test that incorrectly identifies a child as typically developing will result in underreferrals. For developmental screening tests, scoring systems must be developed that minimize under- and overreferrals. Trade-offs between sensitivity and specificity occur when devising these scoring systems.⁸³ All indices (sensitivity, specificity, PPV, and NPV) are dependent on the gold standard used in the clinical evaluation and would vary as a function of the clinical measure(s) used and the cutoff selected (eg, –1 to 1.5 SD). Overidentification of children by using standardized screening tests may indicate that this group of children includes some with below-average development and/or significant psychosocial risk factors.⁸⁴ These children may benefit from other community programs to support the family and child as well as closer monitoring of their development by their families, pediatric health care professionals, and teachers or caregivers. Combining developmental surveillance and periodic screening increases the opportunity for identification of undetected delays in early development (Text Box 1).

A list of developmental screening tests and their psychometric testing properties is included in this document (Supplemental Table 1). These screening tests, which are focused on parent-completed tools, have acceptable psychometric properties. The list is not exhaustive, and other standardized, published tests are available. Additional tests are under development. Pediatric health care professionals are encouraged to familiarize themselves with a variety of screening tests and choose those that best fit their populations, practice needs, and skill level. Given the continual evolution of such screening tests, establishing a system for annual review of current and newly available screening tests and the dissemination of the results would be useful to provide guidance to pediatric health care and other professionals on the validity of currently available screening tests for use in the primary care medical home.

Incorporating Surveillance and Screening in the Medical Home

Incorporating developmental surveillance and screening into the pediatric office setting has been successfully achieved through the use of a “whole-office,” team-based approach. Implementation projects^9,11,85–92 have demonstrated success with the pediatric health care professional or clinical team leading the office team in integrating the practice into the clinic flow. The process may begin in the child’s home or at office visit registration and continue through the child’s visit with the pediatric health care professional in the medical office or clinic room. With the assistance of office staff, parents can complete parent-report paper or electronic developmental surveillance and screening forms either before the office visit or within the medical office itself. A quality improvement approach may be the most effective means to build surveillance and screening elements into the process of care.⁹³ In addition to the use of office staff for distribution of surveillance or screening tests to families, team members can help with surveillance through observation of behaviors, interactions, and language. When a concern has been identified, office-based procedures can be used to schedule preventive care or follow-up visits, flag children with established risk factors, and help families with referrals to early intervention, developmental specialists, and pediatric medical subspecialists as needed. With the introduction of developmental screening to child care and early childhood programs, office staff also can serve as links between the family, the programs, and the child’s medical home. Nonphysician staff also may score developmental screening tests, with interpretation and discussion with the family by the pediatric health care professional.

Since the publication of the 2006 policy statement, many local, state, and national initiatives have been used to increase developmental surveillance and screening practices in pediatric clinical programs. The results include major increases in screening rates, often with a majority of children screened.^9,21,85–92 However, in one study, rates of screening in family medicine practices for ASD have been reported to be lower.⁹⁴ Feasibility and effectiveness of parent-report screening tools also have been verified.^9,21,86,88 However, despite the success of screening, a few studies have shown that rates of referral to early intervention were good but not universal, and referrals to specialists were low.^{9,77,86,89,95–97} Establishing an effective and efficient partnership with early childhood professionals is an important ingredient of successful care coordination for children within the medical home.⁶³ The federal government is supporting these partnerships through its “Birth to 5: Watch Me Thrive!” program,⁴⁹ which is particularly centered on universal developmental and behavioral screening for children across settings. The partnership includes early care and education providers, early intervention service and early childhood special education providers, child welfare professionals, home visitors, behavioral health providers, housing and homeless shelter providers, as well as the community and the family. It is built on shared interest in the developmental outcomes of children and recognition of the different skill sets of child health professionals and educators.

Whenever possible, communities should attempt to coordinate resources; this is especially true in preventing delays in care or unnecessary duplication of service. National initiatives that are being implemented to address the low rate of early detection of developmental disorders, much within the context of system-building, also address the problem of successive fall-off between early detection, referral, and initiation of services. The Collaborative Improvement and Innovation Network initiatives⁹⁸ include quality improvement projects, home visiting programs, and screening at child care facilities, both public (eg, Head Start, Early Head Start) and private. These Collaborative Improvement and Innovation Network initiatives have evolved from an initial focus on screening to a comprehensive process of engaging families as partners, interpreting screening results in the context of the family, ensuring referral for comprehensive assessment and intervention, and ensuring linkage to services. Use of a computer-based decision support system built into an electronic health record system shows promise as a strategy for increasing screening as well as referral and tracking.⁹⁹ Electronic referral systems have also been suggested.⁷⁹

For the Medical Home

1. Perform developmental surveillance for the child at every health supervision visit from early childhood through adolescence, and ensure that such surveillance evaluates the child comprehensively.

2. Establish working relationships and dialogue with local child care professionals, early childhood therapists and educators, home visitors, and other early childhood professionals for ongoing developmental surveillance and discussion of a child’s screening results in the medical home or elsewhere.

3. Consider direct referral of the child to early intervention or preschool special education for performance of comprehensive developmental and medical evaluations when the child is determined to be at increased risk for a developmental disorder on the basis of medical, environmental, or social factors or when surveillance raises significant concerns for delay.

4. Administer a standardized developmental screening test for all children at the 9-, 18-, and 30-month visits and for those whose surveillance yields concerns about delayed or disordered development. Screening those with concerns observed on surveillance should especially be noted in children seen at the 4- or 5-year visits, at which surveillance may identify concerns not previously noted and that may be of importance on initiation of kindergarten or elementary school.

5. Administer a standardized ASD screening test for children at the 18- and 24-month visits and at any time for those whose surveillance yields concerns about delayed or disordered social development.

6. Undertake a medical diagnostic evaluation of a child when development is concerning to identify an underlying etiology and to provide related counseling and treatment.

7. Schedule early return visits for continued close surveillance of children whose surveillance raises concerns that are not confirmed by a developmental screening test. Such developmental concerns may include those of the parent, the pediatric health care professional, and other medical, educational, or early intervention professionals as well as known high-risk medical or social risk factors.

8. Refer the child for whom screening results are concerning to early intervention and early childhood programs and initiate medical workup, if indicated.

9. Refer the child for whom screening results are concerning for further developmental evaluation to identify a specific developmental disorder.

10. Initiate a program of chronic condition management for any child identified with a developmental disorder.

11. Establish linkages and collaborations with state and local community and government programs, services, and resources for assisting the child in need of special services or assistance.⁶³

12. Document all surveillance, screening, evaluation, and referral activities in the child’s health record.

13. Family support services (eg, local and national Family Voices organizations [www.familyvoices.org], Parent to Parent USA, state-based Family-to-Family Health Information Centers, and other specific programs) should be offered to families of children identified with special health care needs, and assistance should be provided to access these services.

14. Quality improvement models may be helpful to providers in integrating surveillance and screening into office procedures and for monitoring their effectiveness and outcomes.

For Policy and Advocacy

1. Identify and address barriers to screening in the medical home (such as payment, professional and staff education, and office workflow) to achieve universal screening of all children during early childhood.

2. Provide appropriate payment for developmental screening, testing, evaluation, and treatment. Payment for these separately identifiable and reportable services should not be bundled into the preventive care visit or any other office visit. Payment for follow-up visits to monitor progress and outcomes should also be provided.

3. Provide payment for chronic condition management in the medical home for children identified with a developmental disorder to address the child’s ongoing medical, social, and developmental needs and to identify associated and address newly associated conditions and needs.

4. Continue current unified national efforts to increase early screening and detection rates across health care, education, and social service sectors with refinement and coordination among entities (including the professional associations such as the AAP, American Academy of Family Physicians, American Academy of Physician Assistants, National Association of Pediatric Nurse Practitioners, and the Association of University Centers on Disabilities and federal agencies such as Administration for Children and Families Office of Head Start and Office of Child Care, CDC, and the Maternal and Child Health Bureau and Health Resources and Services Administration). Support for these efforts should continue with a focus on integrated systems for early detection and care coordination to work in a timely, effective way.¹⁰⁰

5. Guidance on specific ages for behavioral screening should be developed and integrated with developmental and ASD screening, given the close interrelationship of development and behavior and common coexistence of problems in both domains.

For Research and Development

1. Encourage ongoing investigation around screening and referral rates directed to the goal of universal screening of all children, with related referral into systems of medical and developmental care for those identified with specific developmental disorders. Obstacles and barriers to referral and ongoing management should be identified.

2. Support ongoing investigation directed to the goal of earliest identification of all children with developmental disorders and referral into specialty systems of developmental evaluation and care, medical evaluation and care, and education.

3. Expand the evidence base for the effectiveness of developmental surveillance activities, including the long-standing use and validity of developmental milestones for this purpose.

4. Expand the evidence base comparing the effectiveness of developmental surveillance, developmental screening, and their combination in the identification of children with developmental disorders.

5. Identify barriers that limit pediatric health care professionals from conducting medical workup for etiology and known associated medical conditions in children with developmental concerns.

6. Develop information systems and data-gathering tests to automate and operationalize the surveillance and screening processes recommended within this report and its algorithm. These could include integration and documentation into the child’s electronic health record of developmental surveillance and screening of all children as well as chronic condition management of those children identified with developmental disorders.

7. Support continued research on the practice of developmental and ASD surveillance and screening, including

   • examining the efficacy of surveillance for early identification of developmental concerns in use at nonscreening visits;

   • examining the utility and validity of methods of surveillance and current tools;

   • establishing the validity of both general developmental and ASD-specific screening;

   • expanding the evidence base for the use and effectiveness of optimal ages for recommended developmental screening, including school-readiness screening and associated behavioral screening; and

   • investigating the short- and long-term benefits of developmental surveillance and screening, given the current limitations of the evidence base.

   • Note that these recommendations are consistent with the recent recommendation from the USPSTF⁴² in its review of ASD screening. Although such research continues, developmental surveillance and screening by pediatric health care professionals in the patient- and family-centered medical home continues to be recommended for the early identification and intervention of children with developmental disorders, including ASD, reports of benefit from early and intensive intervention for ASD, and the national legislative mandate for provision of early intervention and special education services to children with developmental disorders.

8. Unification of all current related screenings is recommended, including early hearing screening, motor screening, behavioral and mental health screening, and neurodevelopmental screening in other health conditions (eg, prematurity and congenital heart disease). This would be valuable, considering the multiple screenings recommended for the wide range of health conditions during childhood. Such a vision and schedule would accommodate age and condition overlaps (such as newborn, anemia, hearing, developmental screening), the complexities for their implementation in the pediatric office by pediatric health care professionals and staff, and the need for families and community providers to understand the utility of such screening. This integration would simplify the process of screening and would benefit affected children, their families, and the pediatric health care professional.