Chapter 3: Child Development & Behavior

This chapter provides an overview of typical development, identifies developmental variations, and discusses several developmental disorders. The chapter does not cover typical development in the newborn period or adolescence (see Chapters 2 and 4, respectively). It addresses behavioral variations that reflect the spectrum of normal development, along with developmental and behavioral disorders and their treatment. The developmental principle of ongoing change and maturation is integral to the daily practice of pediatrics. It is the basic science of pediatrics. For example, we recognize that a 3-month-old infant is very different from a 3-year-old toddler or a 13-year-old adolescent, not only with respect to what the child can do but also in terms of the kinds of illness he or she might have. From the perspective of the general pediatrician, all these areas should be viewed in the context of a “medical home.” The medical home is defined as the setting that provides consistent, continuous, culturally competent, comprehensive, and sensitive care to children and their families. It is a setting that advocates for all children, whether they are typical or have developmental challenges or disabilities. By incorporating the principles of child development—the concept that children are constantly changing—the medical home is the optimum setting to understand and enhance typical development and to address variations, delays, and deviations as they may occur in the life trajectory of the child and the family.

Typical children follow a trajectory of increasing physical size (http://www.cdc.gov/growthcharts/clinical_charts.htm) and increasing complexity of function, especially during the first 5 years of life. The child triples his or her birth weight within the first year and achieves two-thirds of his or her adult brain size by age 2½–3 years. The child progresses from a totally dependent infant at birth to a mobile, verbal person who is able to express his or her needs and desires by age 2–3 years. In the ensuing 3 years the child further develops the capacity to interact with peers and adults, achieves considerable verbal and physical prowess, and becomes ready to enter the academic world of learning and socialization.

It is critical for the clinician to identify disturbances in development during these early years as there are windows of opportunity or sensitive periods when appropriate interventions may be instituted to effectively address developmental challenges.

THE FIRST 2 YEARS

From a motor perspective, children develop in a cephalocaudal direction. They can lift their heads with good control at 3 months, sit independently at 6 months, crawl at 9 months, walk at 1 year, and run by 18 months. The child learning to walk has a wide-based gait at first. Next, he or she walks with legs closer together, the arms move medially, a heel-toe gait develops, and the arms swing symmetrically by 18–24 months.

Clinicians often focus on gross motor development, but an appreciation of fine motor development and dexterity, particularly the grasp, can be instructive not only in monitoring normal development but also in identifying deviations in development. The grasp begins as a raking motion involving the ulnar aspect of the hand at age 3–4 months. The thumb is added to this motion at about age 5 months as the focus of the movement shifts to the radial side of the hand. The thumb opposes the fingers for picking up objects just before age 7 months in a radial palmar grasp, and the immature pincer grasp emerges at about age 9 months. The mature pincer grasp is solidified by the first birthday. Most young children have symmetrical movements. Children should not have a significant hand preference before 1 year of age and typically develop handedness between 18 and 30 months.

Language is a critical area to consider as well. Communication is important from birth (Figure 3–1, see Table 3–2), particularly the nonverbal, reciprocal interactions between infant and caregiver. By age 2 months, these interactions begin to include melodic vowel sounds called cooing and reciprocal vocal play between parent and child. Babbling, which adds consonants to vowels, begins by age 6–10 months, and the repetition of sounds such as “da-dada-da” is facilitated by the child’s increasing oral muscular control. Babbling reaches a peak at age 12 months. The child then moves into a stage of having needs met by using individual words to represent objects or actions. It is common at this age for children to express wants and needs by pointing to objects or using other gestures. Children usually have 5–10 comprehensible words by 12–18 months; by age 2 years they are putting 2–3 words into phrases, 50% of which their caregivers can understand (Tables 3–1 and 3–2; see Figure 3–1), and fluidly use about 50 words for various needs. The acquisition of expressive vocabulary varies greatly between 12 and 24 months of age. As a group, males and children who are bilingual tend to develop expressive language more slowly during that time, though still within the typical time frame. Gender and exposure to two languages should never be used as an excuse for failing to refer a child who has significant delay in the acquisition of speech and language for further evaluation. It is also important to note that most children are not truly bilingual. Most children have one primary language, and any other languages are secondary.

Receptive language usually develops more rapidly than expressive language. Word comprehension begins to increase at age 9 months, and by age 12 months the child’s receptive vocabulary may be as large as 20–100 words. After age 18 months, expressive and receptive vocabularies increase dramatically, and by the end of the second year there is typically a quantum leap in language development. The child begins to put together words and phrases, and begins to use language to represent a new world, the symbolic world. Children begin to put verbs into phrases and focus much of their language on describing their new abilities, for example, “I go out.” They begin to incorporate pronouns, such as “I” and “you” into speech and ask “why?” and “what?” questions more frequently. They also begin to appreciate time factors and to understand and use this concept in their speech.

The Early Language Milestone Scale-2 is a simple tool for assessing early language development in the pediatric office setting. Another frequently used screening tool for the ambulatory setting is the Ages and Stages Questionnaire.

One may memorize the developmental milestones that characterize the trajectory of the typical child; however, these milestones become more meaningful and clinically useful if placed in empirical and theoretical contexts. The first 2 years of life have been described as the sensorimotor period, during which infants learn with increasing sophistication how to link sensory input from the environment with a motor response. Infants build on primitive reflex patterns of behavior (termed schemata; sucking is an example) and constantly incorporate or assimilate new experiences. The schemata evolve over time as infants accommodate new experiences and as new levels of cognitive ability unfold in an orderly sequence. This period of behavioral development follows the neurologic development of neural networks through dendritic branching and pruning (apoptosis).

In the first year of life, the infant’s perception of reality revolves around their self and what they can see or touch. The infant follows the trajectory of an object through the field of vision, but before age 6 months the object ceases to exist once it leaves the infant’s field of vision. At age 9–12 months, the infant gradually develops the concept of object permanence, or the realization that objects exist even when not seen. The development of object permanence correlates with enhanced frontal activity appearing on the electroencephalogram (EEG). The concept attaches first to the image of the primary caregiver because of his or her emotional importance and is a critical part of attachment behavior (see next for further discussion). In the second year, children extend their ability to manipulate objects by using instruments, first by imitation and later by trial and error.

In the first year of life, there is a bidirectional attachment process called bonding. The caregivers learn to be aware of and to interpret the infant’s cues, which reflect the infant’s needs. A more sensitive emotional and social interaction process develops that can be seen in the mirroring of facial expressions by the primary caregiver and infant and in their mutual engagement in cycles of attention and inattention, which further develop into social play. Basic trust versus mistrust is another way of describing the reciprocal interaction that characterizes this stage. Turn-taking games, which occur between ages 3 and 6 months, are a pleasure for both the parents and the infant and are an extension of mirroring behavior. They also represent an early form of imitative behavior, which is important in later social and cognitive development. More sophisticated games, such as peek-a-boo, become meaningful at approximately age 9 months. The infant’s thrill at the reappearance of the face that vanished momentarily demonstrates the emerging understanding of object permanence. Age 8–9 months is also a critical time in the attachment process as this is when separation anxiety and stranger anxiety become marked. The infant at this stage is able to appreciate discrepant events that do not match previously known schemata. These new events cause uncertainty and subsequently, fear and anxiety. The infant must be able to retrieve previous schemata and incorporate new information over an extended time. These abilities are developed by age 8 months and give rise to the fears that may subsequently develop: stranger anxiety and separation anxiety. In stranger anxiety, the infant analyzes the face of a stranger, detects the mismatch with previous schemata or what is familiar, and responds with fear or anxiety, leading to crying. In separation anxiety, the child perceives the difference between the primary caregiver’s presence and his or her absence by remembering the schema of the caregiver’s presence. Perceiving the inconsistency in the caregiver’s absence, the child first becomes uncertain and then anxious and fearful. This begins at age 8 months, reaches a peak at 15 months, and disappears by the end of 2 years in a relatively orderly progression as central nervous system (CNS) maturation facilitates the development of new skills. A parent can put the child’s understanding of object permanence to good use by placing a picture of the caregivers near the child or by leaving a comfort object (eg, caregiver’s sweater or a special blanket) where the child can see it during the caregiver’s absence. A visual substitute for the parent’s presence may comfort the child.

Once the child can walk independently, he or she can move away from the parent and explore the environment. Although the child uses the parent as “home base,” returning frequently for reassurance, he or she has now taken a major step toward independence. This is the beginning of mastery over the environment and an emerging sense of self. The “terrible twos” and the frequent self-asserting use of “no” are the child’s attempt to develop a better idea of what is or might be under his or her control. The child is starting to assert his or her autonomy. As children develop a sense of self, they begin to understand the feelings of others and develop empathy. They hug another child who is in perceived distress or become concerned when one is hurt. They begin to understand how another child feels when he or she is harmed, and this realization helps them to inhibit their own aggressive behavior. Children also begin to understand right and wrong and parental expectations. They recognize that they have done something “bad” and may signify that awareness by saying “uhoh” or with other expressions of distress. They also take pleasure in their accomplishments and become more aware of their bodies.

Also, developing at this age is the important behavior of play. Play is the child’s means of learning. Play is a very complex process whose purpose can include the practice and rehearsal of roles, skills, and relationships; a means of revisiting the past; a means of actively mastering a range of experiences; and a way to integrate the child’s life experiences into understanding of their environment. Play involves emotional development (affect regulation and gender identification and roles), cognitive development (nonverbal and verbal function and executive functioning and creativity), and social/motor development (motor coordination, frustration tolerance, and social interactions such as turn taking). Of interest is that play has a developmental progression. The typical 6- to 12-month-old engages in the game of peek-a-boo, which is a form of social interaction. During the next several months, although children engage in increasingly complex social interactions and imitation, their play is primarily solitary. However, they do begin to engage in symbolic play such as by drinking from a toy cup and then by giving a doll a drink from a toy cup. By age 2 years, children begin to engage in parallel play (engaging in behaviors that are imitative). This form of play gradually evolves into more interactive or collaborative play by age 3–4 years and is also more thematic in nature. There are of course wide variations in the development of play, reflecting cultural, educational, and socioeconomic variables. Nevertheless, the development of play does follow a sequence that can be assessed and can be very informative in the evaluation of the child.

Brain maturation sets the stage for toilet training. After age 18 months, toddlers have the sensory capacity for awareness of a full rectum or bladder and are physically able to control bowel and urinary tract sphincters. They also take great pleasure in their accomplishments, particularly in appropriate elimination, if it is reinforced positively. Children must be given some control over when elimination occurs. If parents impose severe restrictions, the achievement of this developmental milestone can become a battle between parent and child. The development of bowel control encompasses a more generalized theme of socialized behavior.

AGES 2–4 YEARS

The 2- to 4-year-old stage begins when language has facilitated the creation of mental images in the symbolic sense. The child begins to manipulate the symbolic world; sorts out reality from fantasy imperfectly; and may be terrified of dreams, wishes, and foolish threats. Most of the child’s perception of the world is interpreted in reference to his or her needs or influence. Cause-effect relationships are confused with temporal ones or interpreted with respect to themselves. For example, children may focus their understanding of divorce on themselves (“My father left because I was bad” or “My mother left because she didn’t love me”). Illness and the need for medical care are also commonly misinterpreted at this age. The child may make a mental connection between a sibling’s illness and a recent argument, a negative comment, or a wish for the sibling to be ill. The child may experience significant guilt unless the caregivers are aware of these misperceptions and take time to deal with them.

At this age, children also endow inanimate objects with human feelings. They also assume that humans cause or create all natural events. For instance, when asked why the sun sets, they may say, “The sun goes to his house” or “It is pushed down by someone else.” Magical thinking blossoms between ages 3 and 5 years as symbolic thinking incorporates more elaborate fantasy. Fantasy facilitates development of role playing and emotional growth. Children test new experiences in fantasy, both in their imagination and in play. In their play, children often create magical stories and novel situations that reflect issues with which they are dealing, such as aggression, relationships, fears, and control. Children often invent imaginary friends at this time, and nightmares or fears of monsters are common. At this stage, other children become important in facilitating play, such as in a preschool group. Play gradually becomes more cooperative; shared fantasy leads to game playing.

EARLY SCHOOL YEARS: AGES 5–7 YEARS

Attendance at kindergarten at age 5 years marks an acceleration in the separation-individuation theme initiated in the preschool years. The child is ready to relate to peers in a more interactive manner. The brain has reached 90% of its adult weight. Sensorimotor coordination abilities are maturing and facilitating pencil-and-paper tasks and sports, both part of the school experience. Cognitive abilities are still at the preoperational stage, and children focus on one variable in a problem at a time. However, most children have mastered conservation of length by age 5½ years, conservation of mass and weight by 6½ years, and conservation of volume by 8 years.

By first grade, there is more pressure on the child to master academic tasks—recognizing numbers, letters, and words and learning to write. Concrete operations typically begin after age 6 years, when the child is able to perform mental operations concerning concrete objects that involve manipulation of more than one variable. The child is able to order, number, and classify because these activities are related to concrete objects in the environment and because these activities are stressed in early schooling. Magical thinking diminishes greatly at this time, and the reality of cause-effect relationships is better understood. Fantasy and imagination are still strong and are reflected in themes of play.

MIDDLE CHILDHOOD: AGES 7–11 YEARS

From 7 to 11 years of age, children devote most of their energies to school and peer group interactions. For the 7-year-old child, the major developmental tasks are achievement in school and acceptance by peers. Academic expectations intensify, become more abstract, and require the child to concentrate on, attend to, and process increasingly complex auditory and visual information. Children with learning disabilities or problems with attention, organization, and impulsivity may have difficulty with academic tasks. This may subsequently lead to negative reinforcement from teachers, peers, and even parents. Such children may develop a poor self-image manifested as behavioral difficulties. The pediatrician must evaluate potential learning disabilities in any child who is not developing adequately at this stage or who presents with emotional or behavioral problems. The developmental status of school-aged children is not documented as easily as that of younger children because of the complexity of the milestones. In the school-aged child, the quality of the response, the attentional abilities, and the child’s emotional approach to the task can make a dramatic difference in success at school. The clinician must consider all of these aspects in the differential diagnosis of learning disabilities and behavioral disorders.

Variations in children’s behavior reflect a blend of intrinsic biological characteristics and the environments with which the children interact. Often identified as complaints by parents, such normal variations in behavior are a reflection of each child’s unique, individual biologic and temperament traits and the parents’ responses. There are no cures for these behaviors, but management strategies are available that can enhance the parents’ understanding of the child and the child’s relationship to the environment. These strategies also facilitate the parents’ care of the growing infant and child.

The last section of this chapter discusses developmental disorders of cognitive and social competence. Diagnosis and management of these conditions requires a comprehensive and often multidisciplinary approach. The health care provider can play a major role in diagnosis, coordinating the child’s evaluation, interpreting the results to the family, and in providing reassurance and support.

NORMALITY & TEMPERAMENT

The physician confronted by a disturbance in physiologic function rarely has doubts about what is atypical. Variations in temperament and behavior are not as straightforward. Not infrequently there is an overlap between physiological and behavioral signs requiring other intervention strategies to sort them out. Labeling such variations as disorders is generally not productive in their diagnosis and management.

The behaviors described in this section are part of a continuum of responses by the child to a variety of internal and external experiences. Temperament, for example, is a genetically influenced behavioral disposition that is stable over time. It sometimes is thought of as being the “how” of behavior as distinguished from the “why” (motivation) and the “what” (ability). Temperament is an independent psychological attribute that is expressed as a response to an external stimulus. The influence of temperament is bidirectional: The effect of a particular experience will be influenced by the child’s temperament, and the child’s temperament will influence the responses of others in the child’s environment. Temperament is the style with which the child interacts with the environment.

The perceptions and expectations of parents must be considered when a child’s behavior is evaluated. A child whom one parent might describe as hyperactive might not be characterized as such by the other parent. This truism can be expanded to include all the dimensions of temperament. Thus, the concept of “goodness of fit” comes into play. For example, if the parents want and expect their child to be predictable but that is not the child’s behavioral style, the parents may perceive the child as being bad or having a behavioral disorder rather than as having a developmental variation. An appreciation of this phenomenon is important because the physician may be able to enhance the parents’ understanding of the child and influence their responses to the child’s behavior. When there is goodness of fit, there will be more harmony and a greater potential for healthy development not only of the child but also of the family. When goodness of fit is not present, tension and stress can result in parental anger, disappointment, frustration, and conflict with the child.

All models of temperament seek to identify intrinsic behavioral characteristics that lead the child to respond to the world in particular ways. One child may be highly emotional and another less so (ie, calmer) in response to a variety of experiences, stressful or pleasant. The clinician must recognize that each child brings some intrinsic, biologically based traits to its environment and that such characteristics are neither good nor bad, right nor wrong, normal nor abnormal; they are simply part of the child. Thus, as one looks at variations in development, one should abandon the illness model and consider this construct as an aid to understanding the nature of the child’s behavior and its influence on the parent-child relationship.

Enuresis and encopresis are common childhood problems encountered in the pediatric and family practitioner’s office. Bedwetting is particularly common with about 20% of children in the first grade occasionally wetting the bed and 4% wetting the bed two or more times a week. Enuresis is more common in boys than in girls. In a recent large US study, the prevalence of enuresis among boys 7 and 9 years was 9% and 7%, respectively, and among girls at those ages, 6% and 3%, respectively. The data on constipation and encopresis seem less clear with about 1%–3% of children experiencing this problem, but with anywhere from 0.3% to 29% of children worldwide experiencing constipation. Overall, encopresis/constipation accounts for 3% of referrals to pediatricians’ offices. What is more striking, however, is that constipation and enuresis often co-occur; in such a case the constipation needs to be dealt with before the enuresis can be addressed.

ENURESIS

Enuresis is defined as repeated urination into the clothing during the day and into the bed at night by a child who is chronologically and developmentally older than 5 years; this pattern of urination must occur at least twice a week for 3 months. Enuresis has been categorized by the International Children’s Continence Society as monosymptomatic or non-monosymptomatic. Monosymptomatic enuresis is uncomplicated nocturnal enuresis (NE; must never have been dry at night for over 6 months with no daytime accidents); it is a reflection of a maturational disorder and there is no underlying organic problem. Complicated or non-monosymptomatic enuresis often involves NE and daytime incontinence and often reflects an underlying disorder. The evaluation of both forms needs to take into consideration both the medical and psychological implications of these conditions.

Monosymptomatic enuresis reflects a delay in achieving nighttime continence and reflects a delay in the maturation of the urologic and neurologic systems. Both micturition and anorectal evacuation are dependent on neural connections and communications between the frontal lobes, locus ceruleus, mid pons, sacral voiding center, and the bladder and rectum. With respect to enuresis, most children are continent at night within 2 years of achieving daytime control. However, 15.5% of 7.5-year-old children wet the bed but only about 2.5% meet the criteria for enuresis. With each year of age the frequency of bedwetting decreases: by 15 years only about 1%–2% of children continue to wet. This occurs more commonly among boys than girls.

The causes for NE are varied and probably interact with one another. Genetic factors are strongly implicated, as enuresis tends to run in families. Many children with NE have a higher threshold for arousal and do not awake to the sensation of a full bladder. NE can also be a result of overproduction of urine from decreased production of desmopressin or a resistance to antidiuretic hormone. In such cases, the bladder has decreased functional capacity and empties before it is filled.

The evaluation of a child with NE involves a complete history and physical examination to rule out any anatomical abnormalities, underlying pathology, or the presence of constipation. In addition, every child with NE should undergo a urinalysis including a specific gravity. A urine culture should be obtained, especially in girls.

Treatment involves education and the avoidance of being judgmental and shaming the child. Most children feel ashamed and the goal of treatment is to help the child establish continence and maintain his or her self-esteem. A variety of behavioral strategies have been employed such as limiting liquids before sleep and awakening the child at night so that he/she can go to the toilet. Central to this simple strategy is consistency on the parents’ part and the need for the child to be completely awake. If this simple approach is unsuccessful, the use of bedwetting alarms is suggested. Every time the alarm goes off, the child should go to the toilet and void. Therapy needs to be continued for at least 3 months and used every night. Critical to the success of therapy is that parents need to be active participants and get up with the child, as many children will just turn off the alarm and go back to sleep. The alarm system, which is a form of cognitive behavioral therapy, has been found to cure two-thirds of affected children and should be highly recommended to affected children and their parents as a safe, effective treatment for NE. The most common cause of failure of this intervention is that the child does not awaken or the parents do not wake the child.

While behavioral strategies should be the first line of treatment, when these fail one may need to turn to medications. Desmopressin acetate (DDAVP), an antidiuretic hormone analogue, has been used successfully. DDAVP decreases urine production. Imipramine, a tricyclic antidepressant, also has been used successfully to control NE, although the mechanism of action is not understood. However, potential adverse side effects, including the risk of death with an overdose, suggest that imipramine should be used only as a last resort. Unfortunately, when such medications are stopped, there is a very high relapse rate.

Daytime incontinence or non-monosymptomatic enuresis is more complicated than NE. Daytime continence is achieved by 70% of children by 3 years of age and by 90% of children by 6 years. When this is not the case, one needs to consider underlying pathology, including cystitis, diabetes insipidus, diabetes mellitus, seizure disorders, neurogenic bladder, anatomical abnormalities of the urinary tract system such as urethral obstruction, constipation, and psychological stress and child maltreatment. A complete history and physical examination must be obtained, along with a diary that includes daily records of voiding and fecal elimination. Treatment must be directed at the underlying pathology and often requires the input of pediatric subspecialists. Following diagnosis, family support and education are essential.

ENCOPRESIS

Constipation (see Chapter 21) is defined by two or more of the following events for 2 months: (1) fewer than three bowel movements per week, (2) more than one episode of encopresis per week, (3) impaction of the rectum with stool, (4) passage of stool so large that it obstructs the toilet, (5) retentive posturing and fecal withholding, and (6) pain with defecation.

Encopresis is described in the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) as the repeated passage of stool into inappropriate places (such as in the underpants) by child who is chronologically or developmentally older than 4 years. It occurs each month for at least 3 months and is not attributable to the physiologic effects of a substance or another medical condition except to the mechanism involving constipation. Behavioral scientists often divide encopresis into (1) retentive encopresis, (2) continuous encopresis, and (3) discontinuous encopresis. In rare instances children have severe toilet phobia and so do not defecate into the toilet. It is critical to note that more than 90% of the cases of encopresis result from constipation. Thus, in the evaluation of a child with encopresis, one must rule out underlying pathology associated with constipation (see Chapter 21) while at the same time addressing functional and behavioral issues. Conditions associated with constipation include metabolic disorders such as hypothyroidism, neurologic disorders such as cerebral palsy or tethered cord, and anatomical abnormalities of the anus. In addition, children who have been continent can also develop encopresis as a response to stress or child maltreatment.

The prevalence of encopresis is somewhat difficult to precisely ascertain as it is a subject often kept secret by the family and the child. However, some authors report that 1%–3% of children ages 4–11 years of age suffer from encopresis. The highest prevalence is between 5 and 6 years of age.

A complete history and meticulous physical examination must be performed, including a rectal examination, particularly looking for abnormalities around the anus and spine. An abdominal radiograph can be helpful in determining the degree of constipation, the appearance of the bowel, and whether there is obstruction. Assuming no gastrointestinal abnormalities, initial intervention starts with treatment of constipation. Subsequently education, support, and guidance around evacuation are essential, including behavioral strategies such as having the child sit on the toilet after meals to stimulate the gastrocolic reflex. It is most important to avoid punishing the child and making him or her feel guilty and ashamed. Helping the child to clean himself and his clothing in a nonjudgmental, nonpunitive manner is far more productive approach than criticism and reproach. At the same time, if there is an underlying psychiatric disorder such as depression, the child should be treated for the mental health problem along with the treatment of the constipation.

When medical management of constipation is indicated, oral medication or an enema for “bowel cleanout” followed by oral medications should be used. Such treatment can be monitored by abdominal radiographs to be sure that the colon is clean. A bowel regimen needs to be established with the goal of the child achieving continence and defecating in the toilet bowl on a regular basis. The child should be encouraged to have a daily bowel movement, and the use of fiber, some laxatives, and even mineral oil can be helpful. Consultation with a gastroenterologist should be considered in more refractory cases.

COLIC

Infant colic is characterized by severe and paroxysmal crying that occurs mainly in the late afternoon. The infant’s knees are drawn up and its fists are clenched, flatus is expelled, the facies has a pained appearance, and there is minimal response to attempts at soothing. Studies in the United States have shown that among middle-class infants, crying occupies about 2 hours per day at 2 weeks of age, about 3 hours per day by 6 weeks, and gradually decreases to about 1 hour per day by 3 months. The word “colic” is derived from Greek kolikos (“pertaining to the colon”). Although colic has traditionally been attributed to gastrointestinal disturbances, this has never been proven. Others have suggested that colic reflects a disturbance in the infant’s sleep-wake cycling or an infant state regulation disorder. In any case, colic is a behavioral sign or symptom that begins in the first few weeks of life and peaks at age 2–3 months. In about 30%–40% of cases, colic continues into the fourth and fifth months.

A colicky infant is healthy and well fed but cries for more than 3 hours a day, for more than 3 days a week, and for more than 3 weeks—commonly referred to as the “rule of threes.” The important word in this definition is “healthy.” Thus, before the diagnosis of colic can be made, the pediatrician must rule out diseases that might cause crying. With the exception of the few infants who respond to elimination of cow’s milk from its own or the mother’s diet, there has been little firm evidence of an association of colic with allergic disorders. Gastroesophageal reflux is often suspected as a cause of colicky crying in young infants. Undetected corneal abrasion, urinary tract infection, and unrecognized traumatic injuries, including child abuse, must be among the physical causes of crying considered in evaluating these infants. Some attempts have been made to eliminate gas with simethicone and to slow gut motility with dicyclomine. Simethicone has not been shown to ameliorate colic. Dicyclomine has been associated with apnea in infants and is contraindicated.

This then leaves characteristics intrinsic to the child (ie, temperament) and parental caretaking patterns as contributing to colic. Behavioral states have three features: (1) They are self-organizing—that is, they are maintained until it is necessary to shift to another one; (2) they are stable over several minutes; and (3) the same stimulus elicits a state-specific response that is different from other states. The behavioral states are (among others) a crying state, a quiet alert state, an active alert state, a transitional state, and a state of deep sleep. The states of importance with respect to colic are the crying state and the transitional state. During transition from one state to another, infant behavior may be more easily influenced. Once an infant is in a stable state (eg, crying), it becomes more difficult to bring about a change (eg, to soothe). How these transitions are accomplished is probably influenced by the infant’s temperament and neurologic maturity. Some infants move from one state to another easily and can be diverted easily; other infants sustain a particular state and are resistant to change.

Another factor to be considered in evaluating the colicky infant is the feeding and handling behavior of the caregiver. Colic is a behavioral phenomenon that involves interaction between the infant and the caregiver. Different caregivers perceive and respond to crying behavior differently. If the caregiver perceives the crying infant as being spoiled and demanding and is not sensitive to or knowledgeable about the infant’s cues and rhythms—or is hurried and “rough” with the infant—the infant’s ability to organize and soothe him- or herself or respond to the caregiver’s attempts at soothing may be compromised. Alternatively, if the temperament of an infant with colic is understood and the rhythms and cues deciphered, crying can be anticipated and the caregiver can intervene before the behavior becomes “organized” in the crying state and more difficult to extinguish.

Management

1. Parents need to be educated about the developmental characteristics of crying behavior and made aware that crying increases normally into the second month and abates by the third to fourth month.

2. Parents need reassurance, based on a complete history and physical examination, that the infant is not sick. A discussion of the differential/potential causes and why they have been ruled out can be helpful. Although these behaviors are stressful, they are normal variants and are usually self-limited. This discussion can be facilitated by having the parent keep a diary of crying and weight gain. If there is a diurnal pattern and adequate weight gain, an underlying disease process is less likely to be present. It is important to relieve parental anxiety.

3. For parents to effectively soothe and comfort the infant, they need to understand the infant’s cues. The pediatrician (or nurse) can help by observing the infant’s behavior and devising interventions aimed at calming both the infant and the parents. One should encourage a quiet environment without excessive handling. Rhythmic stimulation such as gentle swinging or rocking, soft music, drives in the car, or walks in the stroller may be helpful, especially if the parents are able to anticipate the onset of crying. Another approach is to change the feeding habits so that the infant is not rushed, has ample opportunity to burp, adaptive nipple if bottle fed, and, if necessary, can be fed more frequently so as to decrease gastric distention if that seems to be contributing to the problem.

4. Medications such as phenobarbital elixir and dicyclomine should not be used because of the risk of adverse reactions and overdosage. A trial of ranitidine hydrochloride or other proton pump inhibitor might be of help if proven gastroesophageal reflux is contributing to the child’s discomfort.

5. For colic that is refractory to behavioral management, a trial of changing the feedings and eliminating cow’s milk from the formula or from the mother’s diet if she is nursing may be indicated. The use of whey hydrolysate formulas for formula-fed infants has been suggested. There is conflicting evidence regarding the use of probiotics to treat infant colic.

6. There is no conclusive evidence for complementary and alternative interventions to treat colic. While herbal remedies have been suggested, there are no well-designed studies supporting herbal therapies in the treatment of colic. Furthermore, herbal remedies have potential for toxicity and neurologic impairment, compounded by lack of knowledge of appropriate dosing in children. The same holds true for the use of chiropractic interventions and reflexology; there are no well-designed studies to support the use of these interventions, and the risks of adverse events outweigh the possible benefits. However, there are several studies suggesting probiotics—Lactobacillus reuteri—may be helpful in the management of colic in breast-fed babies but not in bottle-fed infants.

FEEDING DISORDERS IN INFANTS & YOUNG CHILDREN

Feeding problems are common in the general pediatric population. Children can present with feeding problems for various reasons, including fine motor skill deficits, oral-motor dysfunction (gagging, trouble with chewing, and/or swallowing, aspiration), cardiopulmonary disorders leading to fatigue, gastrointestinal disturbances causing pain or discomfort, neuromuscular conditions, social, or emotional issues, and problems with food regulation. Children with medical conditions or developmental disabilities are more likely to experience feeding problems. Infants and young children may refuse to eat if they find eating painful or frightening. The infant or child may refuse to eat if the rhythm of the feeding experience with the caregiver is not harmonious. Food refusal may develop when the infant’s cues around feeding are not interpreted correctly by the parent. The infant who needs to burp more frequently or who needs time between bites but instead is rushed may refuse to eat. The child who has had an esophageal atresia repair and has a stricture may find eating uncomfortable. The very young infant with severe oral candidiasis may refuse to eat because of pain. The child who has had a choking experience associated with feeding may be terrified to eat (oral-motor dysfunction or aspiration). The child who is forced to eat by a maltreating parent or an overzealous caregiver may refuse feeds. Children who have required nasogastric feedings or who have required periods of fasting and intravenous nutrition in the first 1–2 months of life are more likely to display food refusal behavior upon introduction of oral feedings. Food refusal can look like a child outright refusing to eat, spitting out the food, or turning their head away. If the child is verbal, they may express that they are not hungry and verbally refuse food offered to them.

The normal developmental and interactive feeding stages through which the child normally progresses are establishment of homeostasis (0–2 months), attachment (2–6 months), and separation and individuation (6 months to 3 years). During the first stage, feeding can be accomplished most easily when the parent allows the infant to determine the timing, amount, pacing, and preference of food intake. During the attachment phase, allowing the infant to control the feeding permits the parent to engage the infant in a positive manner. This paves the way for the separation and individuation phase. When a disturbance occurs in the parent-child relationship at any of these developmental levels, difficulty in feeding may ensue, with both the parent and the child contributing to the dysfunctional interaction. One of the most striking manifestations of food refusal occurs during the stage of separation and individuation. Conflict may arise if the parent seeks to dominate the child by intrusive and controlling feeding behavior at the same time the child is striving to achieve autonomy. The scenario then observed is of the parent forcing food on the child while the child refuses to eat. This often leads to extreme parental frustration and anger, and the child may be inadequately nourished and developmentally and emotionally thwarted.

When the pediatrician is attempting to sort out the factors contributing to food refusal, it is essential first to obtain a complete history, including a social history. This should include information concerning the parents’ perception of the child’s behavior and their expectations of the child, how often the refusal is happening, if it happens with specific foods or textures, specifics about the environment or setting in which the child eats, how the family manages the food refusal, when the feeding challenges started, and if any changes or stressors occurred at that time. Other information that is important to include in the history are questions about potential discomfort or pain associated with feeding. This can include asking if the child appears to be uncomfortable when feeding. If the child is having dental pain they may be more likely to refuse foods that require use of dentition such as chewy or crunchy foods. If the child is experiencing gastrointestinal discomfort, they may present with reflux, frequent vomiting, choking or gagging, or difficulty swallowing due to pain or discomfort in their esophagus. Constipation also can impact feeding if the child is uncomfortable and in pain.

Second, a complete physical examination should be performed, with emphasis on oral-motor behavior and other clues suggesting neurologic, anatomic, or physiologic abnormalities that could make feeding difficult. The child’s emotional state and developmental level must be determined. This is particularly important if there is concern about depression or a history of developmental delays. Third, the feeding interaction needs to be observed live, if possible. Finally, the physician needs to help the parents understand that infants and children may have different styles of eating and different food preferences, and may refuse foods they do not like. This is not necessarily abnormal but may reflect differences in temperament and variations in the child’s way of processing olfactory, gustatory, and tactile stimuli.

When the chief complaint is failure to gain weight, a different approach is required. The differential diagnosis should include not only food refusal but also medical disorders and maltreatment. The most common reason for failure to gain weight is inadequate caloric intake. Excessive weight loss may be due to vomiting or diarrhea, malabsorption, or a combination of these factors. In this situation more extensive diagnostic evaluation may be needed. Laboratory studies may include a complete blood count; erythrocyte sedimentation rate; urinalysis and urine culture; blood urea nitrogen; serum electrolytes and creatinine; and stool examination for fat, occult blood, and ova and parasites. Some practitioners also include liver and thyroid profiles. Occasionally an assessment of swallowing function or evaluation for the presence of gastroesophageal reflux may be indicated. Because of the complexity of the problem, a team approach to the diagnosis and treatment of failure to thrive, or poor weight gain, may be most appropriate.

Management

The goal of intervention is to identify factors contributing to the disturbance and to work to overcome them. The parents may be encouraged to view the child’s behavior differently and try not to impose their expectations and desires. Alternatively, the child’s behavior may need to be modified so that the parents can provide adequate nurturing. A multidisciplinary approach is recommended in the assessment and treatment of feeding problems in children. The team should include a physician, nurse, and occupational and speech therapists. The team should determine if further workup and referrals would be indicated to provide comprehensive treatment of the concern.

The goals of treatment of the child with feeding challenges are to establish a pattern of eating that is harmonious with the goals of the family or caregivers. Guidelines to accomplishing these goals include the following: (1) Establish a comprehensive diagnosis that considers all factors contributing to poor feeding, (2) monitor the feeding interaction and ensure appropriate weight gain, (3) monitor the developmental progress of the child and the changes in the family dynamics that facilitate optimal weight gain and psychosocial development, and (4) provide support to the family as they seek to help the child.

SLEEP DISORDERS

Sleep problems impact quality of life and are considered a public health problem. Poor sleep in children is associated with maladaptive daytime behaviors, poorer developmental outcome, greater parental stress, obesity, insulin resistance, alterations in sympathetic tone, and immune dysfunction. Sleep is a complex physiologic process influenced by intrinsic biologic properties, temperament, cultural norms and expectations, and environmental conditions. Between 20% and 40% of children experience sleep disturbances at some point in the first 4 years of life. The percentage decreases to 10%–12% in school-aged children. The most common sleep disorder encountered by pediatricians is insomnia, or difficulty with initiating and maintaining sleep. Parasomnias refer to abnormalities of arousal, partial arousal, and transitions between stages of sleep. Other sleep disorders include sleep-disordered breathing (covered in greater depth in Chapter 19), restless legs syndrome (RLS)/periodic limb movement disorder (PLMD, narcolepsy, and circadian rhythm disturbances. Narcolepsy, benign neonatal sleep myoclonus, and nocturnal frontal lobe epilepsy will be covered in Chapter 25. DSM-5 no longer differentiates between primary and secondary insomnia in an effort to acknowledge the importance of managing sleep issues no matter what the perceived cause, and to recognize the bidirectional and interactive effects between sleep issues and coexisting conditions.

Sleep is controlled by two mechanisms. One is homeostatic drive, which is the increase in pressure to fall asleep over the course of the day. The second is the circadian rhythm, which is the drive to be alert. This drive for alertness increases over the course of the morning, dips in the early afternoon, and then rises again to the highest levels several hours before bedtime. This increase in alertness prior to bedtime is often called the “forbidden zone,” because it may be more difficult to fall asleep during this period. This is very important to take into account when attempting to have a child fall asleep earlier than their current bedtime. If the child typically falls asleep at 10 and the caregiver would like the child to fall asleep at 8:00, they may be asking the child to fall asleep when their body is too alert. The change would need to be made gradually. There also are two different biologic clocks. The first is the circadian rhythm–daily sleep-wake cycle. The second is an ultradian rhythm that occurs several times per night—the stages of sleep. Sleep stages cycle every 50–60 minutes in infants to every 90 minutes in adolescents. The daily circadian clock is longer than 24 hours. Environmental cues entrain the sleep-wake cycle into a 24-hour cycle. The cues include light-dark, ambient temperature, core body temperature, noise, social interaction, hunger, pain, and hormone production. Without the ability to perceive these cues (ie, blindness), a child might have difficulty entraining a 24-hour sleep-wake cycle.

Two major sleep stages have been identified clinically and with the use of polysomnography: rapid eye movement (REM) and nonrapid eye movement (NREM) sleep. In REM sleep, muscle tone is relaxed, the sleeper may twitch and grimace, and the eyes move erratically beneath closed lids. REM sleep occurs throughout the night but is increased during the latter half of the night. NREM sleep is divided into three stages. In the process of falling asleep, the individual enters stage N1, light sleep, characterized by reduced body movements, slow eye rolling, and sometimes opening and closing of the eyelids. Stage N2 sleep is characterized by slowing of eye movements, slowing of respirations and heart rate, and relaxation of the muscles. Most mature individuals spend about half of their sleep time in this stage. Stage N3 is slow-wave sleep, during which the body is relaxed, breathing is slow and shallow, and the heart rate is slow. The deepest NREM sleep occurs during the first 1–3 hours after going to sleep. Most parasomnias occur early in the night during deep NREM sleep. Dreams and nightmares that occur later in the night occur during REM sleep.

Sleep is clearly a developmental phenomenon. Infants are not born with a sleep-wake cycle. REM sleep is more common than NREM sleep in newborns and decreases by 3–6 months of age. Sleep patterns slowly mature throughout infancy, childhood, and adolescence until they become adult like. Newborns sleep 10–19 hours per day in 2- to 5-hour blocks. Over the first year of life, the infant slowly consolidates sleep at night into a 9- to 12-hour block and naps gradually decrease to one per day by about 12 months. Most children stop napping between 3 and 5 years of age. In 2015, the National Sleep Foundation published recommendations for the total number of hours of sleep per day in different age groups: 1- to 2-year-olds—11–14 hours per day; 3- to 5-year-olds—10–13 hours per day; 6- to 13-year-olds—9–11 hours per day. Adolescents need 9–9½ hours per night but often only get 7–7¼ hours per night. This is complicated by an approximate 1- to 3-hour sleep phase delay in adolescence that is due to physiologic changes in hormonal regulation of the circadian system. Often, adolescents are not tired until 2 hours after their typical bedtime but still must get up at the same time in the morning. Some school districts have implemented later start times for high school students because of this phenomenon.

PARASOMNIAS

Parasomnias include both NREM arousal disorders such as confusional arousals, night terrors, sleeptalking (somniloquy), and sleepwalking (somnambulism), and REM-associated sleep disorders which are beyond the scope of this chapter.

Night Terrors & Sleepwalking

Night terrors commonly occur within 2 hours after falling asleep, during the deepest stage of NREM sleep, and are often associated with sleepwalking. They occur in about 3% of children and most cases occur between ages 3 and 8 years. During a night terror, the child may sit up in bed screaming, thrashing about, and exhibiting rapid breathing, tachycardia, and sweating. The child is often incoherent and unresponsive to comforting. The episode may last up to ½ hour, after which the child goes back to sleep and has no memory of the event the next day. Management of night terrors consists of reassurance of the parents plus measures to avoid stress, irregular sleep schedule, or sleep deprivation, which prolongs deep sleep when night terrors occur. Scheduled awakening (awakening the child 30–45 minutes before the time the night terrors usually occur) has been used in children with nightly or frequent night terrors, but there is little evidence that this is effective.

Sleepwalking also occurs during slow-wave/deep sleep and is common between 4 and 8 years of age. It is often associated with other complex behaviors during sleep. It is typically benign except that injuries can occur while the child is walking around. Steps should be taken to ensure that the environment is free of obstacles and that doors to the outside are locked. Parents may also wish to put a bell on their child’s door to alert them that the child is out of bed. As with night terrors, steps should be taken to avoid stress and sleep deprivation.

Nightmares

Nightmares are frightening dreams that occur during REM sleep, typically followed by awakening, which usually occurs in the latter part of the night. The peak occurrence is between ages 3 and 5 years, with an incidence between 25% and 50%. A child who awakens during these episodes is usually alert. He or she can often describe the frightening images, recall the dream, and talk about it during the day. The child seeks and will respond positively to parental reassurance. The child will often have difficulty going back to sleep and will want to stay with their parents. Nightmares are usually self-limited and need little treatment. They can be associated with stress, trauma, anxiety, sleep deprivation that can cause a rebound in REM sleep, and medications that increase REM sleep.

INSOMNIA

Insomnia includes difficulty initiating sleep and nighttime awakenings. Although parasomnias are frightening, insomnia is frustrating. It can result in daytime fatigue for both the parents and the child, parental discord about management, and family disruption.

Several factors contribute to these disturbances. The quantity and timing of feeds in the first year of life will influence nighttime awakening. Most infants beyond age 6 months can go through the night without being fed. Thus, under normal circumstances, night waking for feeds is probably a learned behavior and is a function of the child’s arousal and the parents’ response to that arousal.

Bedtime habits can influence settling in for the night as well as nighttime awakening. If the child learns that going to sleep is associated with pleasant parental behavior such as rocking, singing, reading, or nursing, going back to sleep after nighttime arousal without these pleasant parental attentions may be difficult. This is called sleep-onset association disorder and usually is the reason for night waking. Every time that the child gets to the light sleep portion of the sleep-wake cycle, he or she may wake up. This is usually brief and not remembered the next morning, but for the child who does not have strategies for getting to sleep independently, getting back to sleep may require the same interventions needed to get to sleep initially. Most of these interventions require a parent. Night waking occurs in 40%–60% of infants and young children.

Parents need to set limits for the child while acknowledging the child’s individual biologic rhythms. They should resist the child’s attempts to put off bedtime or to engage them during nighttime awakenings. The goal is to establish clear bedtime rituals, to put the child to bed while still awake, and to create a dark, quiet, secure bedtime environment.

The child’s temperament is another factor contributing to sleep. It has been reported that children with low sensory thresholds and less rhythmicity (regulatory disorder) are more prone to night waking. Night waking often starts at about 9 months as separation anxiety is beginning. Parents should receive anticipatory guidance prior to that time so that they know to reassure their child without making the interaction prolonged or pleasurable. Finally, psychosocial stressors and changes in routine can play a role in night waking.

Insomnia is common in children with complex medical conditions and neurologic, developmental, and psychiatric disorders.

SLEEP-DISORDERED BREATHING

Sleep-disordered breathing or obstructive sleep apnea is characterized by obstructed breathing during sleep accompanied by loud snoring, chest retractions, morning headaches, dry mouth, and daytime sleepiness. Obstructive sleep apnea occurs in 1%–3% of preschoolers. It has its highest peak in childhood between the ages of 2 and 6 years. It has been associated with daytime behavioral disorders, including attention-deficit/hyperactivity disorder (ADHD) (see Chapter 19).

RESTLESS LEGS SYNDROME & PERIODIC LIMB MOVEMENT DISORDER

RLS and PLMD are common disorders in adults and frequently occur together. The frequency of these disorders in children is about 2%. RLS is associated with an uncomfortable sensation in the lower extremities that occurs at night when trying to fall asleep, is relieved by movement, and is sometimes described by children as “creepy-crawly” or “itchy bones.” PLMD is stereotyped, repetitive limb movements often associated with a partial arousal or awakening. These disorders have been associated with iron deficiency. A diagnosis of RLS is generally made by history and a diagnosis of PLMD can be made with a sleep study. Caffeine, nicotine, antidepressants, and other drugs have been associated with RLS and PLMD. The medical evaluation includes obtaining a serum ferritin and C-reactive protein (CRP) level as ferritin can be falsely elevated during inflammation. If the CRP is normal and the ferritin is less than 30–50 ng/mL, treatment with ferrous sulfate should be considered. Medications have been studied for treatment of RLS and PLMD in adults but not in children.

Management of Sleep Disorders

The BEARS is a mnemonic that has been recommended for screening for sleep problems in primary care: Bedtime resistance, Excessive daytime sleepiness, Awakening during the night, Regularity and duration of sleep, Sleep-disordered breathing. Screening for the quality and quantity of sleep at every well-child visit has been recommended by Honaker and Meltzer (2016) due to the impact of sleep problems and evidence that parents will not necessarily bring up sleep issues or be aware of what constitutes poor sleep. Once a problem with sleep is identified, a complete medical and psychosocial history should be obtained, and a physical examination performed. A detailed sleep history and diary should be completed, and both parents should contribute. Assessment for allergies, lateral neck films, and polysomnography may be indicated to complete the evaluation, especially if sleep-disordered breathing is suspected. It is important to consider disorders such as gastroesophageal reflux, which may cause discomfort or pain when recumbent. Dental pain or eczema may cause nighttime awakening. It is also important to make sure that any medications that the child is taking do not interfere with sleep.

The key to treatment of children who have difficulty going to sleep or who awaken during the night and disturb others is for the physician and parents to understand normal sleep patterns, daytime and nighttime habits that promote sleep, responses that inadvertently reinforce undesirable sleep behavior, and the child’s individual temperament traits. The ABCs of SLEEPING were developed by Allen et al (2016) as a mnemonic for typical recommendations offered to improve sleep: Age-appropriate Bedtimes and wake times with Consistency, Schedules and routines, Location (quiet, dark, cool environment), Exercise and diet, no Electronics in the bedroom or before bed, Positivity (positive home environment), Independence when falling asleep, Needs of child met during the day, equals Great sleep. Good sleep hygiene includes discontinuing any activities that are stimulating in the hour before bedtime. It is also important to dim lights and avoid blue light during the “wind down” time. Television and video games are particularly stimulating. Apps are available to decrease blue light and increase red/orange light at night on computers, phones, and tablets. Exposure to light and physical activity during the day are helpful and it is important to ask about caffeine ingestion. Many recommendations for improving sleep in pediatric patients have limited evidence base. Allen et al reviewed available literature and found moderate to strong evidence to support an association between the following recommendations and good sleep: age-appropriate and consistent nap, bed, and wake times; bedtime by 9 PM; regular schedule; limiting access to electronics during and after bedtime by removing them from the bedroom; need to learn to fall asleep independently; establishing a positive living environment; and supporting emotional needs during the day. The literature does not support limiting exercise in the 1–4 hours prior to bedtime. Other interventions had insufficient, limited, or equivocal evidence. Further study is needed to establish evidence-based practices.

Sleep hygiene education and cognitive behavioral therapy for insomnia are considered first-line treatments for pediatric insomnia.

There is little evidence regarding pharmacologic management of sleep disorders in children. Non-pharmacologic interventions should be tried first. While the role for melatonin in children with typical development is unclear, there is mounting evidence that it can be effective in children with visual impairments, developmental disabilities, and autism spectrum disorders (ASDs). Medications such as clonidine are often used for sleep disorders, especially in children with ADHD and ASD, but there are little data to support its use.

TEMPER TANTRUMS & BREATH-HOLDING SPELLS

1. Temper Tantrums

Temper tantrums are common between ages 12 months and 4 years, occurring about once a week in 50%–80% of children in this age group. The child may throw him- or herself down, kick and scream, strike out at people or objects in the room, and hold his or her breath. These behaviors may be considered normal as the young child seeks to achieve autonomy and mastery over the environment. They are often a reflection of immaturity as the child strives to accomplish age-appropriate developmental tasks and meets with difficulty because of inadequate motor and language skills, impulsiveness, or parental restrictions. In the home, these behaviors may be annoying. In public, they are embarrassing.

Some children tolerate frustration well, are able to persevere at tasks, and cope easily with difficulties; others have a much greater problem dealing with experiences beyond their developmental level. Parents can minimize tantrums by understanding the child’s temperament and what he or she is trying to communicate. Parents must also be committed to supporting the child’s drive to master his or her feelings.

Management

Appropriate intervention can provide an opportunity for enhancing the child’s growth. The tantrum is a loss of control on the child’s part that may be a frightening event and a blow to the child’s self-image. The parents and the physician need to view these behaviors within the child’s developmental context rather than from a negative, adversarial, angry perspective.

Several suggestions can be offered to parents and physicians to help manage tantrums:

1. Minimize the need to say “no” by “child-proofing” the environment so that fewer restrictions need to be enforced.

2. Use distraction when frustration increases; direct the child to other, less frustrating activities; and reward the positive response.

3. Present options within the child’s capabilities so that he or she can achieve mastery and autonomy.

4. Fight only those battles that need to be won and avoid those that arouse unnecessary conflict.

5. Do not abandon the preschool child when a tantrum occurs. Stay nearby during the episode without intruding. A small child may need to be restrained. An older child can be asked to go to his or her room. Threats serve no purpose and should not be used.

6. Do not use negative terms when the tantrum is occurring. Instead, point out that the child is out of control and give praise when he or she regains control.

7. Never let a child hurt him- or herself or others.

8. Do not “hold a grudge” after the tantrum is over, but do not grant the child’s demands that led to the tantrum.

9. Seek to maintain an environment that provides positive reinforcement for desired behavior. Do not overreact to undesired behavior, but set reasonable limits and provide responsible direction for the child.

10. Approximately 5%–20% of young children have severe temper tantrums that are frequent and disruptive. Such tantrums may result from a disturbance in the parent-child interaction, poor parenting skills, lack of limit setting, and permissiveness. They may be part of a larger behavioral or developmental disorder or may emerge under adverse socioeconomic conditions, in circumstances of maternal depression and family dysfunction, or when the child is in poor health. Referral to a psychologist or psychiatrist is appropriate while the pediatrician continues to support and work with the family.

2. Breath-Holding Spells

Whereas temper tantrums can be frustrating to parents, breath-holding spells can be terrifying. The name for this behavior may be a misnomer in that it connotes prolonged inspiration. In fact, breath-holding occurs during expiration and is reflexive—not volitional—in nature. It is a paroxysmal event occurring in 0.1%–5% of healthy children from age 6 months to 6 years. The spells usually start during the first year of life, often in response to anger or a mild injury. The child is provoked or surprised, starts to cry—briefly or for a considerable time—and then falls silent in the expiratory phase of respiration. This is followed by a color change. Spells have been described as either pallid (acyanotic) or cyanotic, with the latter usually associated with anger and the former with an injury such as a fall. The spell may resolve spontaneously, or the child may lose consciousness. In severe cases, the child may become limp and progress to opisthotonos, body jerks, and urinary incontinence. Only rarely does a spell proceed to asystole or a seizure.

Management

For the child with frequent spells, underlying disorders such as seizures, orthostatic hypotension, obstructive sleep apnea, abnormalities of the CNS, tumors, familial dysautonomia, and Rett syndrome (almost exclusively in girls) need to be considered. An association exists among breath-holding spells, pica, and iron-deficiency anemia. These conditions can be ruled out on the basis of the history, physical examination, and laboratory studies. Once it has been determined that the child is healthy, the focus of treatment is behavioral. Parents should be taught to handle the spells in a matter-of-fact manner and monitor the child for any untoward events. The reality is that parents cannot completely protect the child from upsetting and frustrating experiences and probably should not try to do so. Just as in temper tantrums, parents need to help the child control his or her responses to frustration. Parents need to be careful not to be too permissive and submit to the child’s every whim for fear the child might have a spell.

If loss of consciousness occurs, the child should be placed on his or her side to protect against head injury and aspiration. Maintaining a patent oral airway is essential, but cardiopulmonary resuscitation should be avoided. There are no prophylactic medications. Atropine, 0.01 mg/kg given subcutaneously, has been used with some benefit in spells accompanied by bradycardia or asystole.

The American Academy of Pediatrics (AAP) Periodicity Schedule provides guidelines for surveillance and screening at well-child visits. Surveillance is a procedure for recognizing children at risk for a developmental disorder and involves asking parents if they have concerns about their child’s development. The PEDS (Pediatric Evaluation of Developmental Status) can be used for this purpose. Screening involves use of a standardized tool to clarify identified risk. An evaluation would be done by a specialist and would involve a more definitive evaluation of a child’s development.

Surveillance should occur at all well-child visits. Screening of development should occur at 9, 18, and 30 months. Because a 30-month visit is not part of the standard well-child visit schedule and may not be reimbursed, screening may occur at 24 months instead. It is also recommended that autism-specific screening should occur at the 18-month and 24-month visits. Because children with ASD often experience a regression or plateau in skills between 12 and 24 months of age, some children may be missed by a single screen at 18 months. The Screening Tool for Autism in Toddlers and Young Children (STAT) is a second-line screening tool for children who were found to have concerns for ASD on first-line screener such as the MCHAT-R. The STAT includes direct interaction with the child and was designed to differentiate children with ASD from children with developmental delay. The STAT takes about 20 minutes to complete and is meant to be used by a wide range of community professionals. The measure and training can be found at http://stat.vueinnovations.com/about. Clinicians should keep in mind that if they are administering a screen because they are concerned and the child passes the screen, they should still schedule an early follow-up visit to ensure that appropriate developmental progress has been made and that there are no further concerns.

Implementation of screening requires planning for timing of screening administration during office visits, defining the process for referral, and designing handouts prior to beginning screening. Screening is done to optimize the child’s development. However, it also demonstrates to the parent the interest their care provider has not only for the child’s physical well-being but also for the child’s developmental and psychosocial well-being. Parents of children who receive a developmental assessment express greater satisfaction with their care provider.

DEVELOPMENTAL DISORDERS

Developmental disorders include abnormalities in one or more aspects of development, such as language, motor, visual-spatial, attention, and social abilities. Problems with development are often noted by parents when a child does not meet typical motor and language milestones. Developmental disorders may also include difficulties with behavior or attention. ADHD is the most common neurodevelopmental disorder. ADHD occurs in 2%–10% of school-aged children and may occur in combination with a variety of other learning or developmental issues. Mild developmental disorders are often not noted until the child is of school age.

Many biological and psychosocial factors influence a child’s performance on developmental tests. In the assessment of the child, it is important to document adverse psychosocial factors, such as neglect or poverty, which can negatively influence developmental progress. Many of the biological factors that influence development are genetic.

The diagnostic criteria for developmental disorders are found in the DSM-5. The term mental retardation has been replaced by intellectual disability (ID). The diagnostic criteria for ASDs changed dramatically in DSM-5 with some changes in the criteria for ADHD. There are also subtle changes to communication disorders, specific learning disorder, and motor disorders. These can be found at the following website: https://www.psychiatry.org/psychiatrists/practice/dsm/educational-resources/dsm-5-fact-sheets.

Evaluation

The neurodevelopmental evaluation must focus on (1) defining the child’s level of developmental abilities in a variety of domains, including language, motor, visual-spatial, attention, and social abilities; (2) attempting to determine the etiology of the child’s developmental delays; and (3) planning a treatment program. These objectives are ideally achieved by a multidisciplinary team that may include a physician, a psychologist, a speech or language therapist, an occupational therapist, and an educational specialist. This type of evaluation is ideal but not always readily available.

Medical & Neurodevelopmental Examination

The medical history should include the pregnancy, labor, and delivery to identify conditions that might compromise the child’s CNS function. This includes prenatal exposures to toxins, medications, alcohol, drugs, smoking, and infections; maternal chronic illness; complications of pregnancy or delivery; and neonatal course. Problems such as poor weight gain, chronic illnesses, hospitalizations, and maltreatment can interfere with typical development. Major illnesses or hospitalizations should be discussed. Any CNS problems, such as trauma, infection, or encephalitis, should be documented. The presence of metabolic diseases and exposure to environmental toxins such as lead should be determined. Chronic diseases such as chronic otitis media, hyper- or hypothyroidism, and chronic renal failure can impact typical development. The presence of motor or vocal tics, seizures, gastrointestinal, or sleep disturbances should be documented. In addition, parents should be questioned about any motor, cognitive, or behavioral regression.

The physician should review and document the child’s developmental milestones. The physician should also review temperament, difficulties with sleep or feeding, tantrums, poor attention, impulsivity, hyperactivity, anxiety/fears, and aggression. When asking questions about problematic behaviors, it is important to have the parent describe the behavior including frequency and duration. It is also important to try to determine triggers of the behavior and consequences or potential reinforcers of the behavior (ABC—antecedent/behavior/consequence).

A detailed history of school-related events should be recorded, including previous special education support, evaluations through the school, history of repeating grades, difficulties with specific academic areas, problems with peers, and the teacher’s impressions of the child’s difficulties, particularly related to problems with attention, impulsivity, or hyperactivity. Input from teachers can be invaluable and should be sought prior to the evaluation.

An important aspect of the medical history is a detailed family history of emotional or behavioral problems, learning disabilities, ASD, ID, or psychiatric disorders. Parental learning strengths and weaknesses, temperament difficulties, or attentional problems may be passed on to the child. For instance, dyslexia is highly heritable.

The neurodevelopmental examination should include a careful assessment of dysmorphic features such as epicanthal folds, palpebral fissure size, shape and length of the philtrum, low-set or posteriorly rotated ears, prominent ear pinnae, unusual dermatoglyphics (eg, a single transverse palmar crease), hyperextensibility of the joints, syndactyly, clinodactyly, or other anomalies. A detailed physical and neurologic examination needs to be carried out with an emphasis on both soft and hard neurologic findings. Soft signs can include motor incoordination, which can be related to handwriting problems and academic delays in written language or drawing. Visual-motor coordination abilities can be assessed by having the child write, copy shapes and designs, or draw a person.

The child’s growth parameters, including height, weight, and head circumference, need to be assessed. Normal hearing and visual acuity should be documented or evaluated. Cranial nerve abnormalities and oral-motor coordination problems need to be noted. The examiner should watch closely for motor or vocal tics. Both fine and gross motor abilities should be assessed. Tandem gait, ability to balance on one foot, and coordinating a skip should be evaluated based on age. Fine motor coordination can be noted when watching a child stack blocks or draw.

The developmental aspects of the examination can include an assessment of auditory processing and perceptual ability with simple tasks, such as two- to fivefold directions, assessing right and left directionality, memory for a series of spoken words or digit span, and comprehension of a graded paragraph. In assessing expressive language abilities, the examiner should look for difficulties with word retrieval, formulation, articulation, and adequacy of vocabulary. Visual-perceptual abilities can be assessed by simple visual memory tasks, puzzles, or object assembly, and evaluating the child’s ability to decode words or organize math problems. Visual-motor integration and coordination can be assessed with handwriting, design copying, and drawing a person. Throughout the assessment, the clinician should pay special attention to the child’s ability to focus attention and concentrate, and to other aspects of behavior or affect, such as evidence of depression or anxiety.

Additional questionnaires and checklists—such as the Child Behavior Checklist by Achenbach; ADHD scales such as the Conners’ Parent/Teacher Rating Scale; Vanderbilt ADHD Diagnostic Parent/Teacher Rating Scales; and the Swanson, Nolan, and Pelham Questionnaire-IV—can be used to help with this assessment.

Referral of family to community resources is critical, as is a medical home (described earlier in this chapter).

ATTENTION-DEFICIT/HYPERACTIVITY DISORDER

ADHD is a common neurodevelopmental disorder that may affect about 7%–8% of children and 2.5% of adults. It is associated with a triad of symptoms: impulsivity, inattention, and hyperactivity. DSM-5 describes three ADHD subtypes: hyperactive-impulsive, inattentive, and combined. To be classified according to one or another of these subtypes, the child must exhibit six or more of the symptoms listed in Table 3–3. DSM-5 include the same 18 symptoms, 2 symptom domains, and require 6 symptoms from each domain for children younger than 17. DSM-5 includes the following changes: Criteria will address symptoms across the lifespan, symptoms causing the impairment will need to be present prior to age 12 instead of age 7, and some symptoms will need to be present across more than one setting. Overall there are significant challenges in academic functioning and social interactions. A diagnosis will be allowed in children with ASD, and symptom thresholds will be lower in adolescents 17 and older and in adults (only five symptoms required from each category).

The majority of children with ADHD have a combined type with symptoms of inattention as well as hyperactivity and impulsivity. Girls have a higher prevalence of the inattentive subtype; boys have a higher prevalence of the hyperactive subtype. Although symptoms begin in early childhood, they can diminish between ages 10 and 25 years. Hyperactivity declines more quickly, and impulsivity and inattentiveness often persist into adolescence and adulthood. ADHD may be combined with other psychiatric conditions, such as mood disorder in approximately 20% of patients, conduct disorders in 20%, and oppositional defiant disorder in up to 40%. Up to 25% of children with ADHD seen in a referral clinic have tics or Tourette syndrome. Conversely, well over 50% of individuals with Tourette syndrome also have ADHD.

ADHD has a substantial genetic component. Several candidate genes have been identified but only explain a small part of the variance, although there is strong evidence that ADHD is a disorder involving multiple genes. ADHD is also associated with a variety of genetic disorders including fragile X syndrome, Williams syndrome, Angelman syndrome, XXY syndrome (Klinefelter syndrome), and Turner syndrome. Fetal alcohol syndrome (FAS) is also strongly associated with ADHD. CNS trauma, CNS infections, prematurity, and a difficult neonatal course with brain injury can also be associated with later ADHD. Metabolic problems such as hyperthyroidism can sometimes cause ADHD. These organic causes of ADHD should be considered in the evaluation of any child presenting with attentional problems, hyperactivity, or impulsivity. Particularly inattention can occur with obstructive sleep apnea. However, in the majority of children who have ADHD, the cause remains unknown.

Management

The treatment of ADHD varies depending on the complexity of the individual case, including comorbid disorders such as anxiety, sleep disorders, and learning disabilities. It is important to educate the family regarding the symptoms of ADHD and to clarify that it is a neurologic disorder which makes the symptoms difficult for the child to control. Despite that, behavior modification techniques usually help these children and should include structure with consistency in daily routine, positive reinforcement whenever possible, and time-out for negative behaviors. A variety of educational interventions can be helpful, including preferential seating in the classroom, a system of consistent positive behavior reinforcement, consistent structure, the repetition of information when needed, and the use of instruction that incorporates both visual and auditory modalities. Many children with ADHD have significant social difficulties, and social skills training can be helpful. Individual counseling is beneficial in alleviating poor self-esteem, oppositional behavior, and conduct problems.

Stimulant medications (methylphenidate, dextroamphetamine, mixed amphetamine, and lisdexamfetamine) are available in short- and long-acting preparations and in tablet, capsule, liquid, and dermal patch forms. Alternative medications for the treatment of ADHD include extended-release clonidine or guanfacine, which are α₂-adrenergic presynaptic agonists. Atomoxetine, which is a norepinephrine reuptake inhibitor, has also been used as a second-line medication or as an adjunct treatment with the stimulants It should be noted that the stimulants are rapidly acting while atomoxetine takes more time for there to be an effect (ie, 2–4 weeks). It is most important that no matter what medication is used, the diagnosis is correct and the correct dosage is prescribed. A recent study has demonstrated that one of the major factors contributing to treatment failure is inadequate dosing or the failure to recognize the presence of comorbid conditions such as learning disability, anxiety disorders, and depression.

Seventy to 90% of children with normal intellectual abilities respond well to stimulant medications. Stimulants enhance both dopamine and norepinephrine neurotransmission, which seems to improve impulse control, attention, and hyperactivity. The main side effects of methylphenidate and dextroamphetamine include appetite suppression and resulting weight loss, as well as sleep disturbances. Atomoxetine is a selective inhibitor of the presynaptic norepinephrine transporter, which increases norepinephrine and dopamine, and has a similar side-effect profile to the stimulants as well as side effects associated with antidepressants. Some individuals experience increased anxiety, particularly with higher doses of stimulant medications. Children with autism and developmental disabilities may be at increased risk for side effects with stimulants. Stimulants may exacerbate psychotic symptoms. They may also exacerbate motor tics in 30% of patients, but in 10% motor tics may be improved.

Cardiovascular effects of stimulant medications have undergone significant scrutiny over the past several years and do not appear to increase the risk of sudden death over the risk in the general population, especially in children without any underlying risk. Prior to beginning a stimulant medication, it is recommended that clinicians obtain any history of syncope, palpitations, chest pain, and family history of sudden death prior to age 30 that may predispose a child to sudden death. Stimulant products and atomoxetine should generally not be used in patients with serious heart problems or in those for whom an increase in BP or HR would be problematic. Consultation with the child’s cardiologist would be indicated prior to making a decision about stimulant use. The US Food and Drug Administration (FDA) includes this statement in the labeling of stimulants: “sudden death has been reported in association with CNS stimulant treatment at usual doses in children and adolescents with structural cardiac abnormalities or other serious heart problems.” The FDA has recommended that patients treated with ADHD medications should be monitored for changes in HR or BP.

AUTISM SPECTRUM DISORDERS

ASD is a neurologic disorder characterized by (1) persistent deficits in social communication and social interaction across multiple contexts and (2) restricted, repetitive patterns of behavior, interests, or activities. Autism was grouped under the pervasive developmental disorders in the DSM-IV with Asperger disorder, pervasive developmental disorder not otherwise specified, childhood disintegrative disorder (CDD), and Rett syndrome. DSM-5 combines autism, PDD, and Asperger syndrome into ASDs. Table 3–4 lists the DSM-5 criteria for diagnosis of an ASD. DSM-IV stipulated that the typical features or signs should be present prior to 3 years of age. DSM-5 now uses a caveat that the typical features or signs may not be present until social demands become greater and may be difficult to recognize in an individual who has learned compensatory strategies. As with any disorder, the typical features or signs must cause “clinically significant impairment” in function. As ASD and ID may be diagnosed in the same individual, social communication function should be impaired in comparison to the individual’s “general developmental level.” Severity is now specified as level I: “requiring support,” level II: “requiring substantial support,” and level III: “requiring very substantial support.”

ASDs are relatively common, occurring in approximately 1 in 59 children based on surveillance data from the CDC in 2014. Males are overrepresented by about 4:1. About 31% of children with ASD also have an ID. A rare presumably pathogenic genetic variant can be found in 10%–30% of individuals with ASD, or up to 30%–40% who have had a “thorough clinical genetics evaluation” or have “complex autism” the term used for children with co-occurring microcephaly, seizures, dysmorphic features, or major congenital anomalies. This percentage may increase as newer techniques such as whole-exome sequencing become more widely used. There is a strong familial component. Parents of one child with ASD of unknown etiology have a 7%–23% chance of having a second child with ASD. The prevalence is higher if the second child is male or the affected child is female. The concordance rate among monozygotic twins is high but not absolute, and there is an increased incidence of speech, language, reading, attention, and affective disorders in family members of children with ASD. The genetics of ASD are complex and inheritance patterns appear to be multifactorial. ASD is a heterogeneous disorder for which single-gene disorders are not commonly found. As many as 2500 susceptibility genes have been identified. These genes often have variable penetrance and expression, as well as “pleiotropy” (one genotype associated with different neuropsychiatric or physical phenotypes such as ASD, seizures, or schizophrenia). In addition, epigenetics, gene-gene interactions, and gene-environment interactions may also play a role.

Evaluation & Management

Children with ASD are often not diagnosed until age 3–4 years, when their differences in reciprocal social interaction and communication become more apparent. However, atypical communication and behavior can often be recognized in the first 12–18 months of life. The most common early characteristics are a consistent failure to orient to one’s name, regard people directly, use gestures, and to develop speech. Even if one of these skills is present, it is often diminished in frequency, inconsistent, or fleeting. Sharing affect or enjoyment is an important precursor to social interaction. By 16–18 months a child should have “joint attention,” which occurs when two people attend to the same thing at the same time. This is usually accomplished by shifting eye gaze, pointing, or saying “look.” Toddlers should regularly point to get needs met (“I want that”) and to show (“look at that”) by 1 year of age. By 18 months a toddler should be able to follow a point, imitate others, and engage in functional play (using toys in the way that they are intended to be used, such as rolling a car, throwing a ball, or feeding a baby doll). Restricted interests and repetitive behaviors sometimes do not emerge until after age 2, but usually are present before age 2.

There is mounting evidence that a diagnosis of ASD can be made reliably by age 14 to 24 months and is typically stable over time. However, there are a small percentage of children who have been reliably diagnosed with ASD who no longer meet criteria after age 3. Because there is evidence that early intervention is particularly important for children with ASD, the Modified Checklist for Autism in Toddlers—Revised with Follow up (M-CHAT-R/F) was designed for children 16–30 months of age. It is a parent report measure with 20 yes/no questions. There are clinician-administered follow-up questions for those who screen positive. Just under 50% of children who screen positive initially (M-CHAT-R/F score ≥ 3) and after follow-up (M-CHAT-R/F score ≥ 2) will go on to be diagnosed with an ASD; however, 95% will have some type of developmental concern. Fewer children screen positive on the initial parent completed screen with the revised version of the M-CHAT. It can be downloaded at https://m-chat.org/about.php. The STAT is a second-line screening tool. The STAT includes direct interaction with the child and was designed to differentiate children with ASD from children with developmental delay (See above).

An autism-specific screen is recommended at 18 months and at 24–30 months. The second screen is recommended because some of the symptoms may be more obvious in an older child and because many children with ASD experience a regression or plateau in skills between 12 and 24 months. Screening at 18 months could miss many of these children.

When behaviors raising concern for ASD are noted, the primary care provider should complete a thorough history and examination as discussed in the previous section on developmental disorders and the child should be referred to a team of specialists experienced in the assessment of ASD. At the same time, the child should also be referred to a local early intervention program and to a speech and language pathologist to begin therapy as soon as possible. If the diagnostic features are clearly present, a primary care provider may make a diagnosis of ASD to start autism-specific treatments as soon as possible. All children with ASD should have a formal audiology evaluation. A chromosomal microarray (CMA) and a DNA for fragile X syndrome are currently considered first-tier tests in children with ASD. Second-tier tests such as whole exome sequencing (WES), whole genome sequencing (WGS), and autism gene panels (comprised of up to 2500 genes associated with ASD) are being used more frequently and are used as first tier by some providers. Rare gene variants are considered to play a causal role in 10%–30% of individuals with ASD, and combinations of common gene variants are considered causal in 15%–50%. A more detailed description of genetic workup is beyond the scope of this chapter (see the American College of Medical Genetics and Genomics practice guidelines (2013), review of autism genetics by Vortsman et al (2017), or the review article by Yin and Schaaf (2017) for a more detailed discussion). Metabolic screening, lead level, and thyroid studies may also be done if indicated by findings in the history and physical examination. Although more evidence is needed, routine screening for metabolic disorders has been suggested including screening for mitochondrial disorders if there is evidence of an abnormal neurologic examination or lactic acidosis. An evaluation by a clinical geneticist should be offered to every family. A Wood lamp examination for tuberous sclerosis is also recommended. Neuroimaging is not routinely indicated even in the presence of mild/relative macrocephaly because children with autism often have relatively large heads. Neuroimaging should be done if microcephaly or focal neurologic signs are noted. Retrospective studies have found that approximately 20%–30% of children with ASD have a history of a plateau or loss of skills (usually only language and/or social skills) between 12 and 24 months of age. However, prospective longitudinal studies of high-risk infant siblings who are later diagnosed with ASD have found that up to 80% or more will have a regression/plateau in skills. This is found when the study evaluates skills that are present prior to 12 months of age: eye contact, social interest, and response to name. The loss is often gradual and can co-occur with atypical development. It usually occurs before the child attains a vocabulary of 10 words. If a child presents with regression, he or she may be referred to a child neurologist. Metabolic testing, magnetic resonance imaging (MRI) of the brain, and an overnight EEG to rule out electrical status epilepticus of sleep should be considered when there is a history of regression.

Early, intensive (up to 25 hours per week) behavioral intervention for children with ASD is essential for optimal cognitive and adaptive function. The cost of care and/or supports for an individual with ASD over a lifetime is estimated to be 1.4–2.4 million dollars per person. Intervention prior to 2.5–3.5 years of age can reduce lifetime costs by up to two-thirds. Naturalistic training models for children with ASD implemented before age 3 result in 90% of children attaining functional use of language compared to 20% who begin intervention after age 5. Interventions should include parent training and involvement in treatment; ongoing assessment, program evaluation, and programmatic adjustment as needed. Other interventions focus on communication, social interaction, and play skills that can be generalized in a naturalistic setting. Functional use of language leads to better behavioral and medical outcomes. Early detection and early intervention have a positive impact on children with ASDs. The Early Start Denver Model (ESDM) is one model for early intervention. In a recent study, 48 children 18–30 months of age were randomly assigned to ESDM for 20 h/wk for 2 years or community intervention. The group that received ESDM improved by a mean of 17.6 standard points on developmental testing (Mullen Scales of Early Learning with mean of 100 and standard deviation of 15) versus 7.0 points in the control group. Standard scores for adaptive function were maintained in the ESDM group and decreased in the control group. There are many models for this type of intervention and much variability in what is available in different areas of the country. Families should be encouraged to find a model that best suits the needs of the child and the family.

The primary care provider provides a medical home for children with ASD. This requires coordination of care. One role of the primary care provider is to ensure that medical concerns, such as sleep problems, feeding problems with limited diet, constipation often accompanied by withholding, and seizures, are addressed (see Table 3–5 for co-occurring conditions). Any worsening of behavior in a child with autism may be secondary to unrecognized medical issues such as pain from a dental abscess or esophagitis. Practice pathways for primary care providers for management of multiple co-occurring conditions in children with ASD have been developed through the Autism Speaks-Autism Treatment Network. A practice pathway for the identification, evaluation, and management of insomnia in children with ASDs has been developed. The pathway stresses the importance of screening for sleep issues in children with ASD and interviewing around comorbid medical conditions that may impact sleep. Individualizing behavior strategies/sleep hygiene for the child with ASD is also very important, often using creativity and flexibility to adapt strategies used for children with typical development. In addition, psychiatric comorbidities such as anxiety and ADHD are common in children with ASD and should be addressed by the PCP or a specialist. Psychopharmacologic management may be needed to address issues with attention, hyperactivity, anxiety, irritability, aggression, and other behaviors that have a significant impact on daily function. Multiple recent reviews of psychopharmacologic treatments are available. A clinical practice pathway for evaluation and medication choice for ADHD symptoms in children with ASD has also been developed. Children with ASD are less likely to respond to stimulants than children with typical development and are more likely to have side effects. Smaller doses and non-stimulants such as guanfacine should be considered especially in children younger than 5 years, children with IQ less than 50–70, severe anxiety, unstable mood, or low weight/poor appetite. A practice pathway for the management of irritability and problem behavior (aggression toward property, self, or others) in children with ASD was published in 2016. The pathway includes evaluation for conditions that may contribute to irritability and problem behavior: medical (sleep problems, medication side effects, and management of pain or discomfort associated with gastrointestinal, dental, or other medical conditions); impairment in ability to communicate; psychiatric (anxiety, depression); environmental stressors (psychosocial, inadequate educational and behavioral supports, change in routine); and unintentional reinforcement (attention, task avoidance, removal from overwhelming sensory stimuli, or tangible reward such as giving a snack to calm the child). A functional behavioral assessment (FBA) is helpful to characterize the behavior, and to identify the antecedent and consequence of the behavior. Reinforcing positive behavior, providing supports in the environment to assist with tolerance of triggers, providing replacement behaviors for negative behaviors, and avoiding reinforcement are strategies to improve behavior. Risperidone and aripiprazole are the only medications that have an FDA indication for treatment of irritability and aggression in children with ASD. The practice pathway recommended consideration of clonidine and N-acetylcysteine prior to atypical antipsychotics when there were no significant safety concerns necessitating urgent use of the medication that is most likely to improve behavior. These medications have limited evidence for safety and efficacy but appear to have fewer long-term side effects. Anxiety is common in children with ASD with approximately 40% having at least one anxiety disorder. Anxiety can be difficult to diagnose in children with ASD due to difficulty with communication and insight/recognition of feelings and due to some overlap with symptoms of ASD. Anxiety in children with ASD can present with irritability/externalizing behaviors and with dysregulation or symptoms that mimic ADHD. A recent review of diagnosis and management of anxiety in children with ASD recommended using feedback from multiple sources such as the child, parent, clinician, therapists, and school personnel when evaluating for the presence of an anxiety disorder. Randomized controlled trials (RCT) for treating anxiety in children with ASD show moderate efficacy with cognitive behavioral therapy. There have been no RCTs for medications to treat anxiety in children with ASD. Selective serotonin reuptake inhibitors (SSRI) may be used but clinicians should start with low doses and increase slowly while monitoring for behavioral activation. Alpha agonists and propranolol can sometimes be helpful as well. Many complementary and alternative modalities (CAM) treatments for autism have been proposed. As many as 33% of families use special diets and 54% of families use supplements for their child with ASD based on data from the Interactive Autism Network. Most have limited evidence regarding safety and efficacy. The review of CAM prepared by the AAP Task Force on Complementary and Alternative Medicine and the Provisional Section on Complementary, Holistic, and Integrative Medicine is particularly valuable.

INTELLECTUAL DISABILITY

The field of developmental disabilities has been evolving and redefining the constructs of disability and using new terms to reflect that evolution. The term mental retardation is considered pejorative, demeaning, and dehumanizing; therefore, the term intellectual disability (ID) is used. DSM-5 uses the diagnosis intellectual disability (intellectual developmental disorder) and emphasizes the need for evaluation of adaptive function in addition to cognitive testing (IQ). The term disability is used by professionals and advocacy groups.

Recently, a rethinking of the construct of disability has emerged that shifts the focus from limitations in intellectual functioning and adaptive capability (a person-centered trait) to a human phenomenon with its source in biologic or social factors and contexts. The current view is a social-ecological conception of disability that articulates the role of disease or disorder leading to impairments in structure and function, limitations in activities, and restriction in participation in personal and environmental interactions. The term intellectual disability, which is consistent with this broader view, is increasingly being used and reflects an appreciation of the humanness and potential of the individual. The diagnostic criteria currently remain the same; however, the construct and context has changed.

Having noted this, it is important to acknowledge that significant delays in the development of language, motor skills, attention, abstract reasoning, visual-spatial skills, and academic or vocational achievements are associated with ID. Deficits on standardized testing in cognitive and adaptive functioning greater than two standard deviations below the mean for the population are considered to fall in the range of ID. The most common way of reporting the results of these tests is by using an intelligence quotient. The intelligence quotient is a statistically derived number reflecting the ratio of age-appropriate cognitive function and the child’s actual level of cognitive function. A number of accepted standardized measurement tools, such as the Wechsler Intelligence Scale for Children, 5th Edition, can be used to assess these capacities. To receive a diagnosis of ID, a child must not only have an intelligence quotient of less than 70 but must also demonstrate adaptive skills more than two standard deviations below the mean. Adaptive function refers to the child’s ability to function in his or her environment and can be measured by a parent or teacher interview using an instrument such as the Vineland Adaptive Behavior Scales. Cognitive function tends to predict academic success and adaptive function tends to predict level of independence in daily living skills. Levels of severity are based on adaptive function which determines the level of supports needed.

Global developmental delay (GDD) is the diagnosis used for children with significant delays in at least two developmental domains (cognitive, speech and language, gross and fine motor, social, and daily living skills). This diagnosis is typically used in children younger than 5 years due to poor predictive validity of cognitive testing prior to age 5–6 years. The diagnosis of GDD is also used in children older than 5 who cannot adequately participate in standardized testing.

The prevalence of ID is approximately 1%–3% in the general population and may vary by age. Mild levels of ID are more common and more likely to have a sociocultural cause than are more severe levels. Poverty, deprivation, or a lack of exposure to a stimulating environment can contribute to developmental delays and poor performance on standardized tests.

Evaluation

Children who present with developmental delays should be evaluated by a team of professionals as described at the beginning of this section. For children 0–3½ years of age, the Bayley Scales of Infant Development, 3rd Edition, is a well-standardized developmental test. For children older than 3 years, standardized cognitive testing—such as the Wechsler Preschool and Primary Scale of Intelligence, 4th Edition; the Wechsler Intelligence Scale for Children, 5th Edition; the Stanford-Binet V; or the Differential Abilities Scale, 2nd Edition—should be administered to assess cognitive function over a broad range of abilities, including verbal and nonverbal scales. For the nonverbal patient, a scale such as the Leiter, 3rd Edition, will assess skills that do not involve language. A full psychological evaluation in school-aged children should include an emotional assessment if psychiatric or emotional problems are suspected. Such problems are common in children with developmental delays or ID.

The evaluation of a child with ID or GDD should include a complete medical and family history; as well as a physical examination, including head circumference, neurologic examination, dysmorphology examination, and skin examination for neurocutaneous stigmata. Clinicians should also screen for co-occurring conditions such as sleep problems, feeding problems, obesity, gastrointestinal disorders, and behavioral and psychiatric conditions. Families should be offered a genetics evaluation. Expert consensus recommends fragile X molecular genetic testing and CMA as the initial workup for ID/GDD unless the child’s phenotype suggests more targeted testing, as in the case of Down or Williams syndrome. If there is a family history of multiple miscarriages suggesting a possible balanced translocation, a karyotype is recommended in addition to CMA. In children with ID/GDD, CMA will be positive about 6%–10% of the time and Fragile X testing will be positive in about 2%–3%. Families should be counseled about the possibility of CMA finding a copy number variation of unknown clinical relevance or one with clinical relevance unrelated to ID/GDD. A child with an abnormal result should receive genetic counseling from a medical geneticist or certified genetic counselor. Second-tier testing may include nonsyndromic X-linked ID genes and high-density X-CMA in males, and MECP2 deletion, duplication, and sequencing in females. Whole-exome sequencing may also be considered in patients for whom there is a high index of suspicion that a cytogenetic etiology exists but whose workup has been negative. An audiology evaluation should be completed, even if a child passed a hearing evaluation at birth. An ophthalmology examination should also be considered. An EEG should be considered if there are any concerns for seizures or a regression in skills.

Neuroimaging should be considered in patients with microcephaly, macrocephaly, seizures, loss of psychomotor skills, or specific neurologic signs such as spasticity, dystonia, ataxia, or abnormal reflexes. A lead level should be considered in children who frequently put toys or other nonfood items in their mouth. Thyroid function studies should be carried out in any patient who exhibits clinical features associated with hypothyroidism.

Screening for inborn errors of metabolism (IEM) has a relatively low yield (0%–5%) in children who present with developmental delay or ID. Most patients with IEM will be identified by newborn screening or present with specific indications for more focused testing, such as failure to thrive, recurrent unexplained illnesses, plateauing or loss of developmental skills, coarse facial features, cataracts, recurrent coma, abnormal sexual differentiation, arachnodactyly, hepatosplenomegaly, deafness, structural hair abnormalities, muscle tone changes, and skin abnormalities. However, treatable forms of IEMs may present later or without regression or plateau. There are currently 89 “treatable” types of IEM. Treatments may target improvement in symptoms, slowing progression of the disease, or providing support during an illness. While controversy over cost-benefit of screening for rare diseases exists, van Karnebeek et al proposed a two-tiered approach to screening for treatable IEM, which is based on “availability, affordability, yield, and invasiveness.” Tier 1 tests/”nontargeted screening tests” include blood tests for lactate, ammonia, plasma amino acids, total homocysteine, acylcarnitine profile, copper, ceruloplasmin; and urine tests for organic acids, purines and pyrimidines, creatine metabolism, oligosaccharides, and glycosaminoglycans. Testing for 7- and 8-dehydrocholesterol to screen for Smith-Lemli Opitz syndrome and screening for congenital disorders of glycosylation may also be included in first-tier testing. Second-tier testing usually comprises tests that are the only tests for one disease or are more invasive such as tests of cerebrospinal fluid. AAP guidelines for tier 1 tests are somewhat different and include blood tests for plasma amino acids, total homocysteine, acylcarnitine profile; and urine tests for organic acids, purines and pyrimidines, creatine metabolism, oligosaccharides, and mucopolysaccharides. An app has been developed, which is helpful for identifying appropriate tests for treatable etiologies of ID/GDD.

Serial follow-up of patients is important as the physical and behavioral phenotype changes over time and diagnostic testing improves with time. Although cytogenetic testing may have been negative 10 years earlier, advances in high-resolution techniques may now reveal an abnormality that was not identified previously. A stepwise approach to diagnostic testing may also be more cost-effective so that the test most likely to be positive is done first.

Management

Once a diagnosis of ID is made, treatment should include a combination of individual therapies, such as speech and language therapy, occupational therapy or physical therapy, special education support, behavioral therapy or counseling, and medical intervention, which may include psychopharmacology. To illustrate how these interventions work together, two disorders are described in detail in the next section.

SPECIFIC FORMS OF INTELLECTUAL DISABILITY & ASSOCIATED TREATMENT ISSUES

1. Fragile X Syndrome

The most common inherited cause of ID is fragile X syndrome, which is caused by a trinucleotide expansion within the fragile X mental retardation I (FMR1) gene (see Chapter 37). The full mutation is associated with methylation of the gene, which turns off transcription, resulting in a deficiency in the FMR1 protein. This protein regulates the metabotropic glutamate receptor 5. Fragile X syndrome includes a broad range of symptoms. Children with fragile X syndrome often present with developmental delays, social anxiety, hyperactivity, and difficult behavior in early childhood. Most males will have ID with symptoms such as gaze aversion, perseverative language, hand biting, and significant hypersensitivity to environmental stimuli. About 20% of males with fragile X syndrome meet criteria for an ASD. Girls are usually less affected by the syndrome because they have a second X chromosome that produces FMR1 protein. Approximately 30% of girls with the full mutation have cognitive deficits and a greater proportion have ADHD, anxiety, and shyness. Prominent ears; long, thin face; prominent jaw and forehead; joint hyperextensibility; and macroorchidism (in boys) are common; however, approximately 30% of children with fragile X syndrome may not have these features. The diagnosis should be suspected in any child with behavioral problems and developmental delays. As boys move into puberty, macroorchidism becomes more obvious, and facial features can become more elongated. Medical conditions commonly associated with fragile X syndrome include seizures, strabismus, otitis media, gastroesophageal reflux, mitral valve prolapse, and hip dislocation.

Management

A variety of therapies are helpful for individuals with fragile X syndrome. Speech and language therapy can decrease oral hypersensitivity, improve articulation, enhance verbal output and comprehension, and stimulate abstract reasoning skills. Because approximately 10% of boys with the syndrome will be nonverbal at age 5 years, the use of augmentative communication techniques may be helpful. Occupational therapy can be helpful in providing techniques for calming hyperarousal to stimuli and in improving the child’s fine and gross motor coordination and motor planning. If the behavioral problems are severe, it can be helpful to involve a behavioral psychologist who emphasizes positive reinforcement, time-outs, consistency in routine, and the use of both auditory and visual modalities, such as a picture schedule, to help with transitions and new situations.

Psychopharmacology can also be useful to treat ADHD, aggression, anxiety, or severe mood instability. Clonidine or guanfacine may be helpful in low doses to treat hyperarousal, tantrums, or hyperactivity. Stimulant medications such as methylphenidate and dextroamphetamine are usually beneficial by age 5 years and occasionally earlier. Relatively low doses are used because irritability is often a problem with higher doses.

Anxiety may also be a significant problem and the use of a SSRI is often helpful. SSRIs may also decrease aggression or moodiness, although in approximately 25% of cases, an increase in agitation or activation may occur. Aggression may become a significant problem in childhood or adolescence for individuals with fragile X syndrome. In addition to behavioral management, medication may be needed. Clonidine, guanfacine, or an SSRI may decrease aggression, and sometimes an atypical antipsychotic may be needed.

Clinical trials have begun in adults and children with fragile X syndrome to evaluate targeted treatments such as metabotropic glutamate receptor 5 antagonists and γ-aminobutyric acid (GABA) agonists. These medications have shown promising results in mouse models of fragile X syndrome.

An important component of management is genetic counseling. Parents should meet with a genetic counselor after the diagnosis of fragile X syndrome is made because there is a high risk that other family members are carriers or may be affected by the syndrome. A detailed family history is essential. Female carriers have a 50% risk of having a child with the fragile X mutation. Male carriers are at risk for developing FXTAS, a neurodegenerative disorder, as they age.

It is also helpful to refer a newly diagnosed family to a parent support group. Educational materials and parent support information may be obtained on the National Fragile X Foundation website.

2. Fetal Alcohol Spectrum Disorders

Alcohol exposure in utero is associated with a broad spectrum of developmental problems, ranging from learning disabilities to severe ID. Fetal alcohol spectrum disorder (FASD) is an umbrella term describing the range of effects that can occur in an individual exposed to alcohol prenatally. The prevalence of FASD is about 1%–5%. Thus, physicians should always ask about alcohol (and other drug) intake during pregnancy. This is particularly true when evaluating a child presenting with developmental delays. The exact amount of alcohol consumption that leads to teratogenesis remains unclear. Thus, it is best to say that to avoid an FASD, abstention from all alcoholic drinks during pregnancy is essential. Features associated with FASD include facial anomalies, including short palpebral fissures (≤ 10th percentile), thin upper lip, and smooth philtrum (lip/philtrum guide is available for some races/ethniciites); poor prenatal or postnatal growth (height or weight ≤ 10th percentile); CNS abnormalities including poor brain growth (head circumference ≤ 10th percentile), morphogenesis, or neurophysiology (recurrent nonfebrile seizures with no other known etiology); neurobehavioral impairment; and major congenital cardiac, skeletal, renal, ocular, or auditory malformations or dysplasias.

New clinical consensus guidelines for the diagnosis or FASD were published in 2016 by Hoyme et al (Table 3–6). The new guidelines include definitions for prenatal alcohol exposure and neurobehavioral dysfunction, an updated definition of alcohol-related birth defects, a dysmorphology rating system, a lip/philtrum guide for North American white population, and an increase in cutoffs for head circumference, growth, and palpebral fissure percentile cutoffs from less than 3% to 10% or less in an effort to increase sensitivity for identifying children with FASD. The guidelines give criteria for documented prenatal alcohol exposure: six or more drinks per week for 2 weeks or more during the pregnancy; three or more drinks per occasion on two or more occasions during the pregnancy; documented social or legal problems related to alcohol; documented intoxication; positive alcohol-exposure biomarker during pregnancy or at birth such as fatty acid ethyl esters, phosphatidylethanol, or ethyl glucuronide; or increased prenatal risk on a validated screening tool. This does not mean that alcohol use during pregnancy in amounts lower than that guidelines recommend is safe. AAP’s position is that no amount of alcohol during pregnancy is considered safe. The guidelines also recommend that a multidisciplinary team make the diagnosis and that other disorders be considered or ruled out. Disorders with overlapping features include Cornelia deLange, 22q11.2 deletion syndrome, 15q duplication syndrome, Noonan syndrome, Dubowitz syndrome, and exposure to other teratogens such as valproic acid. The dysmorphology rating system was developed to aid in this process. The DSM-5 also added the diagnosis Neurobehavioral Disorder With Prenatal Alcohol Exposure (ND-PAE) while stipulating that more study is indicated.

Management

Individuals with FASD typically have significant difficulty with complex cognitive tasks and executive function (planning, conceptual set shifting, affective set shifting, response inhibition, and fluency). They process information slowly. They may do well with simple tasks but have difficulty with more complex tasks. They have difficulty with attention and short-term memory. They are also at risk for social difficulties and mood disorders. Functional classroom assessments can be a very helpful part of a complete evaluation. Structure is very important for individuals with FASD. Types of structure that may be helpful are visual structure (color code each content area), environmental structure (keep work area uncluttered, avoid decorations), and task structure (clear beginning, middle, and end). Psychopharmacologic intervention may be needed to address issues such as attention and mood.

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