CHAPTER 9

Developmental disabilities and behavioral disorders are among the most common health conditions present in children, with current prevalence estimates suggesting a frequency of approximately 15% or 1 in 6 children in the United States,1 with a profound effect on the children’s health and functional status when compared to unaffected peers.² Intellectual disability (ID) affects 1 in 150 children,¹ while autism spectrum disorder (ASD) has been most recently identified in 1 in 68 children.³ Cerebral palsy (CP), the most common severe motor disability, affects nearly 3 per 1,000 or 1 in 345 children.⁴ The more common and lower-severity disorders, such as attention-deficit/hyperactivity disorder (ADHD)⁵ or the speech and language disorders,⁶ can each affect as many as 1 in 10 children. Behavioral and emotional disorders affect as many as 23% of children in the United States, with approximately 6% described as serious.⁷ Given the frequency of these disorders and the evidence-based benefits of early developmental and medical interventions for many of these conditions, the first task for primary pediatric health care professionals in the management of affected children is early and appropriate identification of these disorders through developmental surveillance and screening. Given their lifelong impact and needs associated with developmental or behavioral disorders, primary pediatric health care professionals need to establish medical homes for affected children and youth from which care is initiated, coordinated, and monitored, and with which families can form a reliable alliance for information, support, and advocacy from the time of diagnosis through the transition to adulthood.⁸ As part of establishing the medical home, the primary pediatric health care professional should also develop a system of care coordination tied to local community-based health, developmental, and educational professionals for collaborative management of the special needs of the child.

Developmental surveillance and screening are critical functions of a family-centered medical home. The child who fails developmental screening and who is identified with a developmental disorder on developmental evaluation (eg, CP, ID, ASD, or a milder condition such as a speech-language disorder or motor coordination disorder) should be designated as a child with special health care needs within their medical home.^9–11 It is now clear that a child with special health care needs who receives care in a family-centered medical home can experience improvements in the use of services, health status, satisfaction, access to care, communication, systems of care, family functioning, and family impact and cost.12

The surveillance and screening for developmental and behavioral disorders follows the same principles used in other health conditions managed within the medical home. Pediatric health surveillance occurs at every well-child visit through routine performance of the health history and physical examination by the primary pediatric health care professional. In contrast, health screening involves the administration of a low-cost, brief, standardized laboratory test by health assistants at an age-determined visit, with interpretation of the results of screening and treatment initiation performed by the medical staff. In the example of a case of anemia, signs or symptoms, such as tachycardia, pallor, or fatigue, may be noted by surveillance at a routine visit. Screening for anemia, on the other hand, is performed routinely by laboratory testing at the newborn visit (to rule out sickle cell anemia), 12 months of age (to rule out iron deficiency or hereditary anemias), and adolescence (to rule out iron deficiency anemia in menstruating females).¹³ When a concern for anemia is identified by surveillance or screening, the health care professional will pursue further evaluation. Such methods are similarly incorporated into developmental surveillance and screening, as recommended in the American Academy of Pediatrics (AAP) clinical report on these practices (Box 9.1).¹⁴

Box 9.1. American Academy of Pediatrics Key Recommendations on Developmental Surveillance and Screening¹⁴

As currently defined by the AAP, developmental screening is the administration of a brief standardized tool for the identification of children at risk of a developmental disorder. It is administered at specific ages, based on known patterns of development. In contrast, developmental surveillance is defined as a flexible, longitudinal, continuous, and cumulative process that is aimed at identifying children who may have developmental problems and is performed at every well-child visit. Six key components are grounded in the history and the observation of the child: (1) eliciting and attending to the parents’ concerns about their child’s development; (2) documenting and maintaining a developmental history; (3) making accurate observations of the child; (4) identifying risk and protective factors; (5) maintaining an accurate record of documenting 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. As in the example of anemia, when a child is identified by screening or surveillance as high risk for a developmental disorder, the health care professional performs (see Chapter 10: Developmental Evaluation) or refers the child for more detailed evaluation. The developmental evaluation, like the evaluation of the child with anemia, is aimed at identifying the specific developmental disorder or disorders affecting the child (see Chapter 11: Making Developmental-Behavioral Diagnoses). When coupled with further medical evaluation of the child, both a specific developmental disorder and related medical etiology and/or associated medical conditions can be identified (see Chapter 4, Biological Influences on Child Development and Behavior and Medical Evaluation of Children With Developmental-Behavioral Disorders), and a program of treatment and care management, such as referral for early intervention services (see Chapter 6, Early Intervention), can be initiated.

Developmental Surveillance

Over past decades, the pediatric practice dedicated to the identification of developmental problems has been rooted in a practice now defined as developmental surveillance. Traditionally, primary pediatric health care professionals have performed informal developmental monitoring through a review of developmental milestones with the parent at pediatric health supervision visits. The health care professional has typically coupled this history with the child’s medical history of known risk factors for developmental problems and observations of the child’s skills and interactions at the visit. While often referred to in the past as screening, such practice is now referred to as developmental surveillance, in concert with other concepts of health surveillance. First so named by Paul Dworkin in 1988, developmental surveillance remains a mainstay in the early identification of children affected by developmental disorders.¹⁵ As now defined by the AAP, it is distinct from developmental screening.¹⁴ Developmental surveillance is performed at each pediatric health supervision visit. It is composed of several key historical and observational components: (1) inquiry about developmental concerns, (2) developmental history, (3) identification of historical risk and protective factors, and (4) observation of a child’s development during the physical examination and visit (Box 9.2).

Box 9.2. Components of Developmental Surveillance

The history obtained from the family is a powerful tool in the process of developmental surveillance. Parental concerns about their child’s development can be an important predictor of developmental problems and are therefore a key area of inquiry during the pediatric health supervision visit.16–18 The history obtained from the parent should also consider significant family biological and psychosocial risk factors, such as other family members with genetic, developmental, or behavioral disorders. The family history may reveal a pedigree of developmental disorders like that seen in X-linked disorders, such as fragile X syndrome or Duchenne muscular dystrophy. Patterns of language disorders can be seen in families of children with ASD. The milder learning disorders and ADHD are also known to have strong familial components, often noted by academic underachievement in family members. A family history of substance abuse is also of note due to concerns of a child’s prenatal exposure, parental underachievement, and the social and environmental risks posed.

Similarly, the child’s medical history may contain known factors for increased risk for developmental disability. The child born preterm or with perinatal complications is at known risk for a wide range of developmental disabilities from CP and sensory impairments to learning, attention, and intellectual disorders. A history of neurological problems, such as seizures or traumatic brain injury, also places a child at higher risk for associated neurodevelopmental disorders. A child with congenital anomalies, including complex congenital heart disease, may also have underlying neurodevelopmental disorders identifiable through surveillance. Abnormal growth patterns, including failure to thrive, overgrowth, macrocephaly, or microcephaly, also suggest higher risk.

Finally, the history should include a thorough social history considering social determinants of health to identify psychosocial and socioeconomic factors within the family and community that may place a child at increased risk for developmental delay.

The developmental history is classically obtained through the tracking of a child’s attainment of key developmental markers, commonly referred to as milestones, throughout childhood. The milestones can be classified into 4 skill areas: gross motor, fine motor, verbal language (expressive and receptive), and social language and self-help (see Table 9.1). Milestone tracking and review may reveal known patterns of timing, order, or sequence seen in developmental disorders.^19,20 Delay is the most widely known pattern of atypical development. With developmental delay, the child acquires skills in the typical sequence but at a slower rate. It may occur within a single stream or across several developmental streams. Dissociation is noted when a child’s development is delayed in one stream and not another. Such patterns can help distinguish developmental disabilities. For example, a child with a language disorder would have a delay in verbal language, while acquiring gross or fine motor skills consistent with age norms. Deviancy or deviation occurs when a child achieves milestones out of the usual sequence within a stream of development, such as when a child crawls before sitting, as seen in some types of CP, or uses words before their meaning is understood, a pattern commonly seen in autism. Echolalia, or the repetition of words or phrases, may be seen briefly in typical development. However, it represents deviant development when it occurs in place of interactive speech and language or when it occurs for a prolonged period. Regression is the least common but most concerning pattern. It typically presents with a child losing milestones, but it can more subtly be recognized when a child stops acquiring new developmental skills or has a slowing in the rate of developmental progress over time; it is seen in metabolic disorders, such as X-linked adrenoleukodystrophy; neurogenetic syndromes, such as Rett syndrome or Duchenne muscular dystrophy; and is frequently reported in children with ASD.

While obtaining a history of developmental milestone acquisition, primary pediatric health care professionals can calculate a child’s rate of developmental progress with use of the developmental quotient (DQ). The DQ is calculated by dividing the child’s developmental or best milestone age (DA) by the child’s chronological age (CA) (DQ = DA/CA × 100). A DQ of 100 represents the mean or average rate of development, while a DQ below 70 is approximately 2 standard deviations below the mean and suggests a significant delay that requires further evaluation. For example, a child with a motor DQ of 70 or less may have CP or other motor disability. A DQ below 70 for language milestones strongly implies a language or intellectual disability.

^aDevelopmental milestones are intended for discussion with parents for the purposes of surveillance of a child’s developmental progress and for developmental promotion for the child. They are not intended or validated for use as a developmental screening test in the pediatric medical home or in early childhood day care or educational settings. Milestones are also commonly used for instructional purposes on early child development for pediatric and child development professional trainees.

Developmental Observation

As in the AAP statement on developmental surveillance and screening,14 the universal health care concepts of surveillance and screening that are critical components of the medical home can also be incorporated into the early identification of behavior disorders. The 2015 AAP Clinical Report Promoting Optimal Development: Screening for Behavioral and Emotional Problems provides detailed information on this topic and contains a comprehensive list of screening tools.²¹ Surveillance for behavioral and emotional problems is recommended at all health supervision visits, with use of a formal behavioral screen when surveillance reveals concerns.²¹

Medical History

Parents’ concerns about their child’s behavior and social skills have been important in the identification of significant problems in the child, particularly in children older than 4 years.22 The family and social histories may also reveal areas of concern. A child’s behavior issues may be tied to known familial mental health problems, such as anxiety disorders, mood disorders, or ADHD. Exposure to environmental, familial, and psychosocial risk factors disproportionately affects behavioral and emotional development.²¹ There has been increasing recognition of the effect of “toxic stress” on the developing child.^23,24 Regular surveillance is recommended regarding family psychosocial risk factors and adverse childhood experiences (ACEs) leading to toxic stress, including maternal depression, poverty, substance abuse, and/or family disorganization^23,25 (see Chapter 3, Environmental Influences on Child Development and Behavior).

Behavior History

The behavior history obtained during surveillance is more typically symptom based, rather than milestone based, as in developmental surveillance. The primary pediatric health care professional should inquire about the child’s relationships and engagement with parents, siblings, and other familiar persons, other children (particularly same-aged peers), and unfamiliar children and adults. Inquiry should be made about the child’s behavior during daily living activities, including eating, sleeping, and playing. Concern about problems with compliance, tantrums, attention, activity level, impulsivity, and aggression should be elicited. A history of unusual patterns of behavior may also be reported. Examples include repetitive speech or play, excessive preoccupation with objects or specific ideas, unusual visual gaze, hand-flapping, or potentially self-injurious hand-biting or face-slapping.

Behavior Observation

During the preventive care visit, the primary pediatric health care professional should observe the child’s engagement and communication with the parent or caregiver in the office. Impulsivity, decreased attention span, or increased activity level suggest attention problems. Observed tantrums and oppositionality should be considered in the context of the child’s age and the history provided by the family. The unusual behavior problems described earlier should elicit further evaluation when directly observed in the medical office setting. As with developmental surveillance, the primary pediatric health care professional should pursue screening or further evaluation when concerns about behavior are identified through behavioral surveillance. In addition, counseling around behavior management and discipline is a critical component of a family-centered care plan derived from the family and professional partnership contained within the medical home (see Chapter 7, Basics of Child Behavior and Primary Care Pediatric Management of Common Behavioral Problems). If the patterns of behavior are typical for the child’s age, counseling on typical behavior patterns and their management should be offered. The parents of a child with stranger or separation anxiety can learn techniques of anticipation and consolation. Discipline methods for management of mild tantrums or oppositionality, such as time-out techniques, can also be included in a behavioral care plan. Interactive child and parent activities and child play should be promoted.26,27 As with developmental surveillance, subsequent visits should be arranged based on behavioral issues noted. Early follow-up should be arranged when there are specific concerns identified. If no improvement is noted at follow-up, an early intervention referral should be considered.

Developmental Screening

In the pursuit of the early identification of developmental disorders, the primary pediatric health care professional is charged with developmental screening periodically during early childhood. Such screening involves the administration of a brief and standardized test in the medical home and is similar to screening of other health conditions. It differs from developmental surveillance in several key features. First, developmental (and behavioral) screening involves use of a formal, standardized test with known reliability, validity, sensitivity, and specificity (Boxes 9.3, 9.4, and 9.5). Second, given its implicit time demand and cost, screening is not employed at every pediatric health supervision visit, as is surveillance. Instead, it is administered at ages based on key times for identification of developmental disorders. Third, as in other health care screening, the developmental screening test is typically ordered and interpreted by the clinician but may be administered by associated health care staff, while surveillance is usually performed directly by the primary pediatric health care professional in the course of the preventive care visit. Like surveillance, screening identifies children at high risk of a developmental disorder. Scoring of screening tests typically is categorical, with assignment of a child into a risk category—such as no risk, suspect, or high risk—rather than a numeric score. Those with scores in the suspect category are typically followed by additional surveillance or screening, while those at highest risk are in need of more detailed developmental evaluation and medical testing for the determination of a diagnosis and treatment needs.

The AAP currently recommends formal developmental screening at 9 months, 18 months, and 30 months of age during the first 3 years of life, as well as at any time that the parent or primary pediatric health care professional has concerns about appropriate development¹⁴ (Table 9.2). In addition, vigilant surveillance is recommended at the 4- and 5-year preventive care visits before a child enters elementary school, in order to identify concerns not previously noted, with screening performed when a concern is observed. Screening specifically for ASD is also recommended at the 18-month visit and again at the 24-month visit.^28,29

The ages for screening were selected based on times when key developmental problems can be identified and time available at each health supervision visit. Screening at the 9-month visit is aimed at identification of deafness and hearing loss not identified in newborn screening, visual disorders, and delays in motor development resulting from neuromotor disorders (eg, CP). At the 18-month visit, the clinician can identify milder motor problems, such as abnormalities of gait or coordination seen in mild CP, or early signs of neuromuscular disorders, such as the muscular dystrophies. In addition, this visit is critical for the early identification of autism spectrum, language, or intellectual disorders. The next screening visit is recommended at 30 months of age.14 This visit is also centered on the development of language, social, or intellectual skills and may also identify ASD, intellectual disorders, or milder speech-language disorders. Children with neuromuscular disorders may also begin showing signs of motor or other developmental problems at this visit. Performance of screening at these early ages enables referral to local early intervention agencies for further evaluation and initiation of early intervention services²⁸ (see Chapter 6, Early Intervention) for those children who fail screening. Such early screening also allows early identification of related medical conditions, with associated early initiation of related medical treatments. The earlier services are initiated, the greater the likelihood for improved outcomes. Testing to be considered includes hearing evaluation, vision screening, laboratory testing, including genetic testing, and brain imaging (see Chapter 4, Biological Influences on Child Development and Behavior and Medical Evaluation of Children With Developmental-Behavioral Delays/Disorders).

Screening Tests

In performing developmental screening at these key visits, the primary pediatric health care professional must choose a screening test based on multiple factors (Box 9.3).

Box 9.3. Characteristics of Developmental and Behavioral Screening Tests Used in Test Selection

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