Chapter 45. Developmental Disorders of Attachment, Feeding, Elimination, & Sleeping

Normal infants are born with the capacity to attach to their parents and to elicit care from them. Defects in the infant's capacity to attach or elicit care, and deficiencies or disruption in the response of the caregiver, can be associated with a number of conditions such as reactive attachment disorder, rumination disorder of infancy, nonorganic failure to thrive, and psychosocial dwarfism. These conditions commence in infancy and, if not corrected, distort later social and intellectual development. Sleep problems often commence in the first 2 years of age. Pica and elimination disorders are usually first diagnosed between 2 and 5 years of age.

Essentials of Diagnosis

DSM-IV-TR Diagnostic Criteria

Reactive Attachment Disorder

1. Markedly disturbed and developmentally inappropriate social relatedness in most contexts, beginning before age 5 years, as evidenced by either (1) or (2):

   1. persistent failure to initiate or respond in a developmentally appropriate fashion to most social interactions, as manifest by excessively inhibited, hypervigilant, or highly ambivalent and contradictory responses (e.g., the child may respond to caregivers with a mixture of approach, avoidance, and resistance to comforting, or may exhibit frozen watchfulness)

   2. diffuse attachments as manifest by indiscriminate sociability with marked inability to exhibit appropriate selective attachments (e.g., excessive familiarity with relative strangers or lack of selectivity in choice of attachment figures)

2. The disturbance in Criterion A is not accounted for solely by developmental delay (as in mental retardation) and does not meet criteria for a pervasive developmental disorder.

3. Pathogenic care as evidenced by at least one of the following:

   1. persistent disregard of the child's basic emotional needs for comfort, stimulation, and affection

   2. persistent disregard of the child's basic physical needs

   3. repeated changes of primary caregiver that prevent formation of stable attachments (e.g., frequent changes in foster care)

4. There is a presumption that the care in Criterion C is responsible for the disturbed behavior in Criterion A (e.g., the disturbances in Criterion A began following the pathogenic care in Criterion C).

(Reprinted, with permission, from Diagnostic and Statistical Manual of Mental Disorders, 4th edn., Text Revision. Copyright 2000, Washington, DC: American Psychiatric Association.)

General Considerations

Epidemiology

Although this condition is believed to be rare, it has not been included in any population-based studies and its prevalence is unknown.

Etiology

Bowlby conceptualized attachment as the biologically based tendency for infants to elicit care from and maintain proximity to their mothers. Babies elicit care by crying, vocalizing, reaching, sucking, making eye contact, and smiling. They maintain proximity first by clinging and following and later by using their mother as a secure base from which to explore the world. The mother, in turn, ministers to the infant's physical, emotional, and social needs and protects the infant from danger. Both mother and infant monitor proximity in the second year, so that the child's exploration is curtailed when danger is perceived by one or both attachment partners.

The infant who perceives the mother as consistently sensitive and responsive to his or her needs develops a secure relationship. In contrast, if the mother's availability is perceived as unpredictable, the child will develop a sense of insecurity. A loss or severing of the attachment relationship leads to a condition interpreted as the early equivalent of grief.

By 12 months of age, the normal infant has developed a primary attachment figure, the caregiver to whom the child preferentially seeks proximity when threatened or insecure. Infants also have one or more secondary attachment figures to whom they will go if the primary figure is unavailable. Through multiple transactions involving the dual-attachment system of mother and infant, the child constructs working models of attachment—internal representations of the self in relation to others, with perceptual, mnemonic, affective, and behavioral components. These structures have profound implications for later social relationships and for the child's capacity to trust other people. The child's working models of attachment may be associated with a sense of predictability, reliability, affection, and well-being, or with inconsistency, ambivalence, rejection, loss, rage, anxiety, or sadness.

Disordered attachment is characterized by a capacity for attachment to a primary figure, however, the attachment relationship is pervaded by excessive inhibition, heedlessness, or role reversal. In disrupted attachment, the mother-infant relationship has been severed, and the infant reacts with developmental arrest, disturbances of eating and sleep, loss of interest in surroundings and play, social withdrawal, and apparent depression.

Severe disturbances or disruptions of the attachment relationship are likely to disrupt or impair one or more of the following aspects of development: (1) relationships with and interest in other people, (2) the capacity to explore the world, (3) cognitive development, (4) the regulation of activity, sleep, feeding, and elimination, or (5) physical growth.

By the end of the first year of life, mother-infant attachment relationships can be characterized as secure, avoidant, resistant, or disorganized. Upon reunion with the mother after a brief separation, the infant will greet the mother and seek proximity (secure), avoid the mother (avoidant), resist the mother with irritation and ambivalence (resistant), or demonstrate freezing, confusion, stereotyped movements, and incoherent, contradictory behavior (disorganized). Disorganized attachment predicts later disruptive behavior disorder. Table 45–1 describes the factors that cause disorders of attachment.

The mother's working models of attachment, developed from her own early attachment experiences, affect her capacity to respond to the infant's attachment needs. If the mother's working models of self-other attachment are suffused with ambivalence, rage, sadness, or emptiness, and her representation of an attachment figure is characterized by rejection, sadism, explosiveness, inconsistency, or remoteness, a similar pattern of behavior is likely to be repeated with the infant. Thus when unresolved conflicts are reactivated in the parent by the demands of infant care, these “ghosts in the nursery” can disrupt or preclude good mothering.

Genetics

Twin studies indicate that additive genetic effects are present in disorders of attachment, particularly among boys.

Clinical Findings

Reactive Attachment Disorder

Reactive attachment disorder represents a failure of the infant to develop a normal attachment relationship to a primary attachment figure. The infant demonstrates one of two types of reaction: (1) socially withdrawn, emotionally constricted, anergic, and apparently unable to derive pleasure from social contact or play or (2) socially indiscriminate and emotionally shallow. Both types of reactive attachment disorder are associated with parental neglect or maltreatment or institutional child-rearing with multiple caregivers. Infants exposed to early maltreatment demonstrate disorganized attachment as toddlers and grow into socially withdrawn or aggressive, disruptive children.

Disordered Attachment

In disordered attachment, the infant has a primary attachment figure, but the attachment relationship is pathologic, with an imbalance between proximity seeking and exploration. There are three types: (1) disordered attachment with inhibition, (2) disordered attachment with self-endangerment, and (3) disordered attachment with role reversal.

In disordered attachment with inhibition, the infant is emotionally constricted, lacking in vitality, socially avoidant, and loath to explore the environment even when it is apparently safe to do so. The child clings persistently to the mother or avoids contact with her.

Children who demonstrate disordered attachment with self-endangerment are reckless, heedless, and accident-prone. Even when hurt, they rebuff their mother's attempts to comfort them. Sometimes they are self-injurious, banging their heads or biting themselves. When anxious, they are more likely to run away than to seek contact comfort from their parents.

In disordered attachment with role reversal, the child exhibits a precocious, overdeveloped solicitousness to the mother, alternating with punitive, bossy, controlling behavior.

Disrupted Attachment

Infants older than 6 months (the age at which the primary attachment figure is first recognized) react to separation from or loss of the attachment figure with the following sequence of behavior: (1) protest, (2) depression, and (3) detachment. Children in the stage of protest cry, demand that the parent return, and reject the attempts of others to comfort them. Depression and detachment are associated with sad face, anergia, insomnia, anorexia, loss of interest in surroundings, social withdrawal, “empty” clinging, and developmental arrest or regression. The child reacts to reminders of the primary attachment figure by ignoring or rejecting them or with a reactivation of protest.

Differential Diagnosis (Including Comorbid Conditions)

Attachment disorders should be distinguished from pervasive developmental disorder, mental retardation, and language disorder. Pervasive developmental disorder, particularly infantile autism, is characterized by delay and deviance in the development of social relationships, language, and intellect. The impairment of social relationships in autism is profound and not reversible by effective parenting. Furthermore, a history of parental failure, maltreatment, or loss is not usually encountered, and autism is associated with characteristic peculiarities of movement, language, and intellectual patterning.

Mental retardation aggravated by parental neglect or maltreatment presents a difficult differential diagnosis. Attachment relationships are intact in uncomplicated cases of mental retardation, other than in the profoundly retarded. Similarly, children with developmental language disorders do not demonstrate attachment pathology unless the language delay is associated with gross parental neglect.

Comorbidity

Reactive attachment disorder is a serious biopsychosocial condition. Older studies reported significant mortality and severe psychosocial morbidity associated with this disorder. However, the negative outcomes of these studies are compounded by the very poor quality of the institutions in which the studied children were housed. A number of investigations have compared the outcome of higher quality institutional rearing with that of early adoption or placement in foster care. Children raised initially in institutions tend to become more restless, distractible, disobedient, oppositional, and irritable than do control subjects. Children adopted early from institutions are better attached to their adoptive parents and siblings than are those who have been reunited with their families of origin.

For maximum benefit to intellectual development, children should probably be placed in a family well before 4 1/2 years of age. However, this question remains: Is there a watershed age beyond which the effects of early institutionalization or parental neglect are irreversible? In any case, a radical change of circumstances is required to remedy reactive attachment disorder and, despite the likelihood of individual differences in the capacity to benefit from environmental enrichment, it would be prudent to place children with adoptive families as early as possible.

Treatment

In the most egregious circumstances, parental rights must be terminated and early adoption sought. In most cases, however, remedial treatment will be appropriate.

The assessment of the family, and particularly of the parent–child interaction, has therapeutic implications, as described in Chapter 5. Parent–infant psychotherapy addresses (1) parental problems that impair caregiving, (2) the constitutional or temperamental factors in the infant that impede attachment, and (3) the match between the infant's needs and temperament and the parent's style of nurturance. Parenting problems could be related to current psychopathology (e.g., depression); unresolved conflict related to past experiences (e.g., of trauma, abuse, rejection, or neglect); or inexperience and lack of flexibility. Other, more experienced parents in mutual support groups can offer helpful advice concerning feeding, daily care, methods of consolation, and play. Nurse home visitors can work with parents to improve the quality of the match between the infant's needs and temperament and the parent's sensitivity and responsiveness, and to help parents enjoy their children.

Complications/Adverse Outcomes of Treatment

Data related to specific interventions for Reactive Attachment Disorder are limited at best. Although some treatments have advocated “holding” during periods of intense rage, coercive restraint, when applied for reasons other than imminent safety, is misdirected and may further the child's negative self-perceptions and further complicate the course of the disorder.

Prognosis

The prognosis of reactive attachment disorder and disordered and disrupted attachment has not been studied thoroughly. Insecure and, particularly, disorganized attachment during infancy have been found to predict disruptive behavior, impulse-control problems, peer relationship problems, oppositional behavior, low self-esteem, and lower social competence in preschool and school-aged children.

Pica

Essentials of Diagnosis

DSM-IV-TR Diagnostic Criteria

1. Persistent eating of nonnutritive substances for a period of at least 1 month.

2. The eating of nonnutritive substances is inappropriate to the developmental level.

3. The eating behavior is not part of a culturally sanctioned practice.

4. If the eating behavior occurs exclusively during the course of another mental disorder (e.g., mental retardation, pervasive developmental disorder, schizophrenia), it is sufficiently severe to warrant independent clinical attention.

(Reprinted, with permission, from Diagnostic and Statistical Manual of Mental Disorders, 4th edn., Text Revision. Copyright 2000, Washington, DC: American Psychiatric Association.)

General Considerations

Epidemiology

The prevalence of pica varies widely. It is much more common among rural pregnant African-American women and among institutionalized mentally retarded patients.

Etiology

The cause of pica is not known. Several theories have been proposed. The nutritional theory relates pica to iron deficiency and an appetite for minerals. However, it is uncertain whether iron deficiency, which is often found in association with pica, is primary or secondary. Another theory suggests that pica, a normal phenomenon in infancy when the mouth is used as a perceptual organ, is a manifestation of delayed development; that is, it represents the retention of developmentally immature behavior, particularly in socially disadvantaged and mentally retarded children. Yet another theory, which applies to pregnant women who chew starch or clay, emphasizes the role of cultural beliefs and custom.

Genetics

Except as mediated by various forms of mental retardation, there are no known genetic factors specifically associated with pica.

Clinical Findings

Children with pica eat dirt, stones, ice, paint, burned match heads, starch, feces, hair, and so on.

Treatment

The proper treatment of pica is unclear. Proper supervision of young children and behavioral techniques for older children are recommended. Ferrous sulfate therapy has been recommended on the theory that the condition is caused by iron deficiency.

Complications/Adverse Outcomes of Treatment

Laboratory studies are needed to rule out lead poisoning. Aside from lead poisoning, pica can lead to excessive weight gain, malnutrition, intestinal blockage, intestinal perforation, and malabsorption.

Prognosis

Depending on the circumstances with regard to associated etiological conditions and the level of supervision the prognosis varies.

Rumination Disorder

Essentials of Diagnosis

DSM-IV-TR Diagnostic Criteria

1. Repeated regurgitation and rechewing of food for a period of at least 1 month following a period of normal functioning.

2. The behavior is not due to an associated gastrointestinal or other general medical condition (e.g., esophageal reflux).

3. The behavior does not occur exclusively during the course of anorexia nervosa or bulimia nervosa. If the symptoms occur exclusively during the course of mental retardation or a pervasive developmental disorder, they are sufficiently severe to warrant independent clinical attention.

(Reprinted, with permission, from Diagnostic and Statistical Manual of Mental Disorders, 4th edn., Text Revision. Copyright 2000 Washington, DC: American Psychiatric Association.)

General Considerations

Epidemiology

The incidence of rumination in the general population of infants is unknown. Rumination among the mentally retarded occurs more commonly in males, particularly among the profoundly retarded. The prevalence in institutional populations is 6–10%.

Etiology

In infants, rumination is thought to be associated with deprivation of maternal attention or neglect. In older, mentally retarded patients, rumination has been ascribed to self-stimulation and is most often encountered in a setting of institutional neglect. Gastroesophageal reflux, hiatus hernia, or esophageal spasm may be diagnosed, but the significance of these conditions is not clear, and it should not be assumed that, even if present, they cause rumination. Rumination has been interpreted as a complex, learned behavior reinforced by maternal attention or oral sensory gratification.

Genetics

Except as mediated by various forms of mental retardation, there are no known genetic factors specifically associated with rumination.

Clinical Findings

Ruminators stimulate their gag reflexes manually or adopt postures that facilitate regurgitation. The frequency can vary from several times per minute to once per hour. Regurgitated food fills the cheeks and may be stirred about by the tongue before being reswallowed or spit out. Ruminators can sometimes be diverted from the practice temporarily, if they are offered interesting things to do after eating.

Differential Diagnosis

Rumination should be differentiated from other causes of vomiting and gastroesophageal reflux.

Treatment

In infants, it may be enough to provide consistent, noncontingent, contact comfort, with holding, rocking, eye contact, and soothing vocalizations. In older children (e.g., in those who are mentally retarded), or in infants for whom adequate nurturance has been insufficient to eliminate the condition, behavioral treatment will be required. The design of the specific treatment plan depends on a detailed behavioral analysis of the antecedents, the behavior, and its consequences. Usually reinforcement techniques are applied first, and aversive techniques are held in reserve in case reinforcement alone is insufficient. When the perpetuating reinforcer is intrinsic (e.g., self-stimulation in older patients) rather than extrinsic (e.g., operant vomiting reinforced by parental attention), treatment may need to be prolonged. The feeding of satiating quantities of high-caloric food is sometimes useful as a preliminary treatment in underweight patients. Habit reversal training using diaphragmatic breathing as the competing response can also lead to substantial improvement. The provision of a substitute oral stimulant such as chewing gum after meals can also be helpful.

Complications/Adverse Outcomes of Treatment

Failure to diagnosis this condition and the extensive diagnostic testing in pediatric and adolescent patients prior to diagnosis can be a significant source of morbidity.

Prognosis

In general, rumination syndrome is a “benign” condition. However, there is a significant functional disability related to weight loss, school and work absenteeism, and hospitalization. In some cases rumination has a serious prognosis. Unless treated successfully, it could lead to inanition and death.

Feeding Disorder of Infancy or Early Childhood (Nonorganic Failure to Thrive)

Essentials of Diagnosis

DSM-IV-TR Diagnostic Criteria

1. Feeding disturbance as manifested by persistent failure to eat adequately with significant failure to gain weight or significant loss of weight over at least 1 month.

2. The disturbance is not due to an associated gastrointestinal or other general medical condition (e.g., esophageal reflux).

3. The disturbance is not better accounted for by another mental disorder (e.g., rumination disorder) or by lack of available food.

4. The onset is before age 6 years.

(Reprinted, with permission, from Diagnostic and Statistical Manual of Mental Disorders, 4th edn., Text Revision. Copyright 2000 Washington, DC: American Psychiatric Association.)

General Considerations

Epidemiology

Nonorganic failure to thrive has been found to occur in 2–5% of admissions to pediatric hospitals. It appears to be equally common in both sexes. English studies that followed birth cohorts in a socially disadvantaged London health district identified 3.5–4.6% as having nonorganic failure to thrive by 12 months of age. Most of these children had never been referred for pediatric evaluation. About 20% of families living in a socially disadvantaged inner city area will have at least one child who fails to thrive. Late birth order in a large, closely spaced family is a risk factor.

Etiology

Organic and nonorganic failure to thrive are not distinguished sharply. Aside from the 10% of cases of failure to thrive that are caused by clear-cut physical disease, subtle constitutional or temperamental factors in the infant often interact with a relative impairment of parenting capacity to cause this condition. However, all cases have the same final common pathway: insufficient food intake.

Among the subtle constitutional factors that interact with or trigger environmental failure are the following: hypotonic lips, poor sucking, tongue dysfunction, oral-motor impairment, poor coordination of sucking and swallowing; gastroesophageal reflux, minor forms of cerebral palsy, Sandifer's syndrome (involving tension spasm and esophageal reflux), sleep apnea, and the aftermath of nasogastric, parenteral, or gastrostomy feeding. In some cases, feeding difficulties disrupt the mother-infant interaction, engendering a vicious cycle.

Early studies implicated maltreatment and neglect as the cause of nonorganic failure to thrive. Better-controlled studies have cast doubt on the universality of this theory, however, follow-up studies of these children have demonstrated an increased risk of subsequent maltreatment and neglect.

Controlled studies of maternal characteristics have produced conflicting results. Some studies suggest an increased prevalence of depression, personality disorder, and substance abuse. Controlled observations of the mother-infant interaction have demonstrated in these mothers less reciprocity, less sensitivity to the infant's cues, greater conflict over control issues, and more negative affect; whereas infants with nonorganic failure to thrive are relatively more inhibited, less cooperative, and more likely to avert their gaze from their mothers.

Genetics

Organic failure to thrive occurs when there is an underlying medical cause. This may be genetically determined.

Clinical Findings

Nonorganic failure to thrive is usually noticed in the first year of life. The infant is cachectic and prone to infection. Developmental delay is the rule, but the severity of the delay is variable. These children are listless and hypotonic, exhibiting abnormal postures and intense gaze. They prefer inanimate objects to people, and they are prone to self-stimulation. They look sad and are irritable, withdrawn, or hypervigilant.

Although in clinical studies the mothers of children with nonorganic failure to thrive have seemed to demonstrate psychopathology, controlled studies have yielded inconsistent findings. One such study demonstrated increased rates of depression, substance abuse, and personality disorder. High rates of insecure and disorganized attachment were noted in the children.

Differential Diagnosis

Nonorganic failure to thrive and psychosocial dwarfism (discussed later in this chapter) must be distinguished from organic causes of failure to thrive and short stature, such as hereditary short stature, chromosomal abnormality (e.g., 46 X0, trisomy 23), dysmorphic short stature (e.g., Noonan's syndrome, Russell-Silver syndrome), skeletal dysplasia (e.g., achondroplasia, hypochondroplasia), endocrinopathy (e.g., growth hormone deficiency, growth hormone resistance, hypothyroidism, hypercortisolism, congenital adrenal hyperplasia), other causes of malnutrition, or systemic disease (e.g., chronic pulmonary disease, congenital heart disease, malabsorption syndrome, renal disease, chronic anemia). Children with nonorganic failure to thrive or psychosocial dwarfism were usually of normal size at birth.

Treatment

If the child's survival is in question, he or she must be removed from the home and hospitalized or placed into foster care. In extreme circumstances, parental rights must be terminated.

A variety of behavioral techniques have been used to counteract or remediate abnormal feeding behavior in infants. These techniques are used in tandem with individual psychotherapy aimed to enhance maternal consistency and sense of competence and to decrease maternal stress. If the mother has a diagnosable psychiatric disorder (e.g., depression or substance use disorder), it should be promptly treated. Casework can be provided in the home by a trained social worker or nurse, with attention given to financial, marital, or employment problems. Dyadic therapy involving both infant and mother is recommended when unresolved issues related to pathogenic maternal working models of attachment impede adequate childcare.

It is unclear whether or when supportive casework is preferable to dyadic therapy.

Complications/Adverse Outcomes of Treatment

Most children with nonorganic failure to thrive do not become psychosocial dwarfs. Psychosocial dwarfism is potentially reversible, if the child is removed from the noxious home environment. However, if the child is returned to an adverse situation, developmental failure will recur. The later the onset, the better the prognosis for intellectual and language functioning.

Prognosis

Children with nonorganic failure to thrive that are not treated for an extended period of time may have difficulty “catching up” developmentally and socially. About half of children who experienced failure to thrive continue to have social and emotional problems or eating problems later in life.

Psychosocial Dwarfism

Essentials of Diagnosis

Diagnostic Criteria

1. Growth failure (marked linear growth retardation and delayed epiphyseal maturation)

2. Neuroendocrine dysfunction (reversible hypopituitarism)

3. Bizarre eating and drinking behavior (e.g., polyphagia, polydipsia, hoarding)

4. Dramatic weight gain after hospitalization but reversion to growth failure after return to family

General Considerations

Epidemiology

The incidence of psychosocial dwarfism in the general population of infants is unknown.

Etiology

Psychosocial dwarfism is caused by dysfunctional growth hormone secretion, which reverses when the child is hospitalized and provided with effective parental care. The condition is usually associated with severe neglect and maltreatment. It is not clear why some children respond to a noxious environment in this manner and others do not.

Genetics

While mutations in the growth hormone receptor gene and related genes can lead to growth failure, psychosocial dwarfism is, by definition, a condition with an environmental etiology.

Clinical Findings

Psychosocial dwarfism is usually diagnosed between 18 months and 7 years of age. Severe growth retardation with cognitive and language delays is sometimes preceded by feeding problems in infancy. The child exhibits polyphagia, food hoarding, pica, and insomnia, sometimes wandering at night apparently to look for food. Food fads, enuresis, encopresis, and self-induced vomiting are commonly associated with psychosocial dwarfism. Mental retardation or borderline intelligence is also a concomitant. The symptoms of psychosocial dwarfism have been associated with disorders of biological rhythms, self-regulation, mood, and social relationships. Sleep, appetite, and satiety are disturbed, and these children have a deficiency in the normally pulsed release of growth hormone into the bloodstream. Sometimes these children are destructive, urinating or defecating in inappropriate places. The condition is potentially reversible, at least in part, if the child is provided with adequate, nurturant surrogate care.

Differential Diagnosis

Psychosocial dwarfism should be distinguished from short stature due to endocrine disorder, constitutional factors, or stress.

Treatment

When children with psychosocial dwarfism are provided with adequate surrogate parental care, physical and mental growth occurs within a few weeks and the eccentric behavior characteristic of the condition recedes. However, the longer that appropriate placement is delayed, the less likely it is that the child will catch up.

Complications/Adverse Outcomes of Treatment

Parental psychopathology and compliance with treatment should be monitored. There is also likely to be an increased risk of child maltreatment including overt abuse and neglect.

Prognosis

The prognosis is poor, unless adequate, surrogate parental care is provided. Short stature, delayed puberty, stunted intellectual development, and conduct problems are likely to result from untreated psychosocial dwarfism.

Encopresis

Essentials of Diagnosis

DSM-IV-TR Diagnostic Criteria

1. Repeated passage of feces into inappropriate places (e.g., clothing or floor) whether involuntary or intentional.

2. At least one such event a month for at least 3 months.

3. Chronological age is at least 4 years (or equivalent developmental level).

4. The behavior is not due exclusively to the direct physiological effects of a substance (e.g., laxatives) or a general medical condition except through a mechanism involving constipation.

(Reprinted, with permission, from Diagnostic and Statistical Manual of Mental Disorders, 4th edn., Text Revision. Copyright 2000 Washington, DC: American Psychiatric Association.)

General Considerations

Epidemiology

A Scandinavian population study revealed a prevalence of 1.5% among children aged 7–8 years. The sex ratio was 3.4:1 in favor of boys. A British study found a prevalence of about 1.5% among children aged 10–11 years, with a sex ratio of 4.3:1 in favor of boys.

Etiology

The etiology of encopresis is multifactorial. Normal continence and voiding requires the following sequence of neuromuscular events: (1) sensitivity to rectal fullness, (2) constriction of the external anal sphincter, puborectalis, and internal anal sphincter, (3) rectal contraction waves, (4) increase of intra-abdominal pressure following contraction of the diaphragm and abdominal muscles, and (5) relaxation of the sphincters.

Children with encopresis exhibit abnormal anorectal dynamics, such as a weak internal sphincter, or a failure of the external sphincter to relax in concert with rectal contraction waves and abdominal straining. There are two types of encopresis: (1) with constipation and overflow incontinence and (2) without constipation and overflow incontinence.

Toilet training involves the learning of the appropriate place and time for defecation; sensitivity to rectal fullness; and the sequential coordination of withholding, finding the right place, adopting the appropriate posture, relaxing the sphincters, and increasing intra-abdominal pressure. Most children are capable of learning the sequence by 18–24 months of age, however, learning may be interrupted by several antecedent conditions or concurrent events. Particularly important are the parent's attunement to the infant's signals and the parent's capacity to introduce the child to the toilet calmly; offer praise and encouragement for a favorable result; and avoid discouragement, coercion, or punishment for failures.

A significant number of children who experience fecal retention were constipated in the first year of life. In other children, physiologic constipation has followed an attack of diarrhea. The preliminary constipation causes painful defecation, in some cases with anal fissure, which precipitates withholding. A pattern of withholding, fecal retention, and involuntary overflow may be created if withholding coincides with faulty toilet training (e.g., with coercion, harsh criticism, or physical punishment) or if the parent is emotionally unavailable or poorly attuned to the child (e.g., as a result of depression). Thus an initially physiologic condition disrupts the mother-child relationship, and psychogenic retention culminates in abnormal anorectal dynamics, megacolon, rectal insensitivity, and leakage or involuntary voiding.

A small number of children, with severe behavioral disturbance, often from neglectful or rejecting homes exhibit no retention and constipation but deliberately defecate in closets or other inappropriate places. Two other nonretentive groups of encopretics are associated with (1) an apparent insensitivity to rectal fullness and the involuntary passage of feces or (2) the passage of (often liquid) feces when emotionally aroused by anxiety, fear, or laughter.

The degree to which encopresis is associated with psychopathology in the parent or child is disputed. Enuresis, oppositional-defiant behavior, tantrums, school refusal, fire setting, and developmental immaturities have been described as concomitants, although it is uncertain to what degree these symptoms are primary or secondary to the encopresis.

Genetics

Although children with some genetically determined forms of mental retardation, such as Fragile-X syndrome, are at greater risk for encopresis, this vulnerability is likely to be more related to their level of intellectual disability than a specific syndrome.

Clinical Findings

Some younger children who deliberately soil in inappropriate places do so at a time of stress or family change, for example after the birth of a sibling. Others, as described earlier in this chapter, do so in reaction to severe neglect or rejection, as in psychosocial dwarfism. A second group appears to lose sphincter control when emotionally aroused. These are often highly strung children exposed to emotional stress, for example, after a change of school.

The most serious cases are associated with constipation, retention, megarectum, megacolon, and the involuntary passage of small amounts of stool, together with liquefaction, fecal leakage, and virtually constant soiling, or the intermittent involuntary passage of large stools. Children with extreme megacolon can become disabled with abdominal distension, anorexia, and loss of weight.

Differential Diagnosis

The following causes of incontinence or constipation should be distinguished from encopresis: Hirschsprung's disease, anal stenosis, and endocrine disorder. However, the combination of soiling; constipation; a ballooned, loaded rectum; and a loaded colon occurs only in encopresis.

The clinician should evaluate the child for other developmental problems or psychiatric disorders (e.g., mental retardation, learning problems, disruptive behavior disorder, anxiety disorder).

Treatment

If the child has a loaded colon and rectum, it is likely that his or her rectum is insensitive to distension. Thus the colon should be washed out, and laxatives and stool softeners used until fecal masses can no longer be palpated and the child is passing regular stools of normal consistency. In severe cases, hospitalization is required.

Parents should be educated to administer a behavioral program. Coercion, punishment, and criticism should be avoided. It is ill-advised, for example, to punish the child by making him or her clean soiled clothes. The child should be asked to sit briefly on the toilet at the same time twice per day: after breakfast and after school. All tension should be removed from the toileting experience. The child may be read to or may read to himself or herself. The parent should make no comment if no bowel movement is passed; in contrast, the parent should praise and offer individualized reward to the child if toileting is successful. Star charts are useful both as a record and for reinforcement (see discussion on “Treatment” in Section “Enuresis”).

Depressed or compulsive parents often find it difficult to institute a consistent, gentle program of this type and may need treatment in their own right. Fathers should be involved in order to provide support and to cooperate in instituting the behavioral program. Marital problems may need attention.

The child may require individual psychotherapy for associated anxiety disorder, disruptive behavior disorder, or other psychopathology. Because the possibility of relapse is high, treatment is often needed for one or more years, with a combination of laxatives, stool softeners, a high-fiber diet, parental education, parental behavior management, individual psychotherapy, and when necessary, psychiatric help for the parents. The results of this regimen are good, particularly in younger children. Success rates of 50–90% have been reported. Imipramine has been prescribed to treat encopresis, but no controlled studies of its effectiveness are available.

Complications/Adverse Outcomes of Treatment

Treatment complications are rare. Most children will improve with time and through the use of relatively innocuous interventions.

Prognosis

Most cases of encopresis resolve by adolescence. A small minority of encopretic individuals remain incontinent as adults.

Enuresis (Not Due to a General Medical Condition)

Essentials of Diagnosis

DSM-IV-TR Diagnostic Criteria

1. Repeated voiding of urine into bed or clothes (whether involuntary or intentional).

2. The behavior is clinically significant as manifested by either a frequency of twice a week for at least 3 consecutive months or the presence of clinically significant distress or impairment in social, academic (occupational), or other important areas of functioning.

3. Chronological age is at least 5 years (or equivalent developmental level).

4. The behavior is not due exclusively to the direct physiological effect of a substance (e.g., a diuretic) or a general medical condition (e.g., diabetes, spina bifida, a seizure disorder).

(Reprinted, with permission, from Diagnostic and Statistical Manual of Mental Disorders, 4th edn., Text Revision. Copyright 2000 Washington, DC: American Psychiatric Association.)

General Considerations

Epidemiology

The sex ratio is equal until 5 years of age, after which males predominate (2:1 at 11 years of age). Boys are more likely to develop secondary enuresis. Scandinavian and New Zealand population studies have found the prevalence of enuresis at 7 and 8 years of age to be 9.8% and 7.4%, respectively. In the United States bedwetting is more common in African-Americans and Asian immigrants than among other populations. Most enuretic children achieve continence by puberty. Approximately 3% of childhood enuretics are still incontinent at 20 years of age.

Etiology

The cause of enuresis is unknown. One study has found an abnormality in circadian rhythms: Enuretics did not reduce the output of urine at night, as do normal children over 12 months of age. Enuretics have low functional bladder volume, a finding that correlates with behavioral disturbance, suggesting a common etiologic factor. Indeed, enuresis correlates with other maturational delays, particularly in language, speech, motor skills, and social development. An association has been noted between the tendency to sleep for long periods each day, between 1 and 2 years of age, and later enuresis, but the significance of this finding is uncertain. Bedwetting occurs at any stage of sleep, and no abnormalities of sleep architecture have been identified.

Primary enuresis refers to enuresis without a period of continence. Secondary enuresis is enuresis after a period of normal bladder control. Two general population studies found that if toilet training is delayed until after 18 months, the prevalence of enuresis increases. Secondary enuresis, but not primary enuresis, is associated with psychosocial stressors. Secondary enuresis is more likely to be associated with behavioral disturbance. About 50% of enuretic children between 7 and 12 years of age have had a previous period of continence.

Genetics

A genetic factor may be involved in enuresis. Bedwetting runs in families and is significantly more common in monozygotic than dizygotic twins.

Differential Diagnosis

Urinalysis, microurine, and urine culture should be ordered routinely. If daytime enuresis is present, if the patient has a history of urinary tract infections or other urinary symptoms (e.g., dysuria, urinary frequency, dribbling), or if the patient's urine grows bacteria, further urologic examinations are required in order to rule out urinary tract infection, bladder neck obstruction, urethral valves, or other structural abnormalities. Epilepsy, diabetes mellitus, diabetes insipidus, and spina bifida should be excluded by history, physical examination, and urinalysis.

Treatment

Star Charts

The child is given a star to add to a calendar for each dry night. The star chart alone results in a cure for a minority of enuretic children. It also provides useful records of baseline and the child's progress.

Surgical Treatment & Retention Control Training

The efficacy of radical surgical treatments such as urethral dilatation, bladder neck repair, cystoplasty, or division of the sacral nerves has not been demonstrated. Bladder training, which involves the retention of urine for longer and longer periods of time, is no longer used.

Psychopharmacologic Interventions

Heterocyclic antidepressants reduce the frequency of bedwetting in about 80% of patients and suppress it entirely in about 30%. However, most patients will relapse within about 3 months of withdrawal from the drug. The effective nighttime dosage is usually 1–2.5 mg/kg and occasionally as much as 3.5 mg/kg. This treatment essentially aims to suppress wetting while waiting for maturation in bladder control. The drug should be tapered and discontinued every 3 months and titrated back to a therapeutic level if enuresis recurs. The neuropharmacologic basis of the antienuretic effect is unknown.

The synthetic antidiuretic desmopressin acetate (desamine-d-arginine vasopressin) is an antienuretic. It may be administered intranasally or orally. Desamine-d-arginine vasopressin may operate by reducing urine volume below that which triggers bladder contraction. As with antidepressant therapy, relapse is common following withdrawal.

Sympathomimetic (e.g., ephedrine) and anticholinergic (e.g., belladonna) drugs are ineffective in treating enuresis.

Psychotherapeutic Interventions

The alarm-and-pad technique (in which an alarm is triggered when the first drop of urine onto a pad closes an electrical circuit) has a 75–80% rate of cure and a 30% relapse rate. It is the most effective treatment available for both primary and secondary enuresis. Children with daytime enuresis, behavioral problems, and a lack of motivation may be resistant to behavioral treatment. Optimal improvement requires at least 6–8 weeks of treatment. For maximum benefit, the alarm-and-pad technique may be combined with antidepressant or antidiuretic medication and a star chart.

If behavioral treatment is clearly the most effective method, why is it not the standard? Probably because it is cumbersome, lengthy, embarrassing, and requires good motivation. It is reasonable to begin treating enuresis with drugs and to move to behavioral treatment if medication is ineffective.

Complications/Adverse Outcomes of Treatment

Treatment complications are rare. Most children will improve with time.

Prognosis

Most cases of enuresis remit between 5 and 7 years of age or 12 and 15 years of age. A minority of cases continue into adulthood.

Introduction

Sleep problems often commence before 2 years of age. Sleep disorders are described more fully in Chapter 30. This section deals with the sleep disorders of infancy and early childhood. Four types of sleep problems affect this age group: (1) insomnia or dyssomnia ( nightwaking), (2) hypersomnia (primary hypersomnia and breathing-related sleep disorder [sleep apnea]), (3) parasomnia (somnambulism, night terrors, nightmares, head banging, body rocking), and (4) circadian rhythm disorder (irregular sleep habits). The first three disorders are discussed in the sections that follow.

Primary Insomnia

Essentials of Diagnosis

DSM-IV-TR Diagnostic Criteria

Primary Insomnia

1. The predominant complaint is difficulty initiating or maintaining sleep, or nonrestorative sleep, for at least 1 month.

2. The sleep disturbance (or associated daytime fatigue) causes clinically significant distress or impairment in social, occupational, or other important areas of functioning.

3. The sleep disturbance does not occur exclusively during the course of Narcolepsy, Breathing-Related Sleep Disorder, Circadian Rhythm Sleep Disorder, or a Parasomnia.

4. The disturbance does not occur exclusively during the course of another mental disorder (e.g., Major Depressive Disorder, Generalized Anxiety Disorder, a delirium).

5. The disturbance is not due to the direct physiological effects of a substance (e.g., a drug of abuse, a medication) or a general medical condition.

(Reprinted, with permission, from Diagnostic and Statistical Manual of Mental Disorders, 4th edn., Text Revision. Copyright 2000 Washington, DC: American Psychiatric Association.)

General Considerations

Primary insomnia is most likely to be associated with psychosocial stress, maternal depression, inconsistent limits, and anxiety. It also occurs in association with sedative medication, Tourette's syndrome, attention-deficit/hyperactivity disorder, mental retardation, autism, and Rett's syndrome.

Different parents have different tolerances for nightwaking. Thus prevalence is a relative matter. Breast-fed infants wake more often than those who are bottle-fed. Waking is not associated with parity or sex, however, it is associated with perinatal adversity other than prematurity.

Clinical Findings

Nightwaking is sometimes associated with colic, a condition in which the child flexes the legs and cries paroxysmically as though in pain. The cause of colic is unknown. The condition seldom lasts beyond 4 months of age.

Treatment

Minde has proposed a treatment approach that starts with several preliminary steps (Table 45–2). Treatment should aim to help the child regulate his or her own sleep without disturbing the parents (Table 45–3). The treatment of marital problems, if any, should be reserved until a later date. Minde claims an 85% success rate with this regimen.

Complications/Adverse Outcomes of Treatment

Failures are most likely if the parents cannot establish daytime and nighttime routines, or if the father is not involved. Unfortunately, the practice of prescribing sedatives and hypnotics for pediatric insomnia is common among community-based pediatricians, especially among patients with special needs. Empirical evidence supporting this practice is limited.

Prognosis

Chronic insomnia may increase the chances of emotional and behavioral problems.

Sleep Apnea (Breathing-Related Sleep Disorder)

Essentials of Diagnosis

DSM-IV-TR Diagnostic Criteria

Breathing-Related Sleep Disorder (Sleep Apnea)

1. Sleep disruption, leading to excessive sleepiness or insomnia that is judged to be due to a sleep-related breathing condition (e.g., obstructive or central sleep apnea Syndrome or central alveolar hypoventilation syndrome).

2. The disturbance is not better accounted for by another mental disorder and is not due to the direct physiological effects of a substance (e.g., a drug of abuse, a medication) or another general medical condition (other than a breathing-related disorder).

(Reprinted, with permission, from Diagnostic and Statistical Manual of Mental Disorders, 4th edn., Text Revision. Copyright 2000 Washington, DC: American Psychiatric Association.)

General Considerations

Sleep apnea is peripheral or central in origin. Peripheral apnea is caused by oropharyngeal obstruction (e.g., by enlarged tonsilloadenoid tissue). Central apnea occurs in the sudden infant death syndrome. It may be associated with sleeping prone and excessive environmental temperature.

Clinical Findings

In obstructive sleep apnea, the sleeping child's breathing stops intermittently and is then followed by snoring respirations.

Treatment

Prone sleeping and excessive bedding (e.g., blankets and comforters) should be avoided. Tonsillectomy and adenoidectomy may be necessary.

Complications/Adverse Outcomes of Treatment

Children undergoing adenoidectomy (or other pharyngeal surgery) for treatment of upper airway obstruction have more frequent complications postoperatively and increased potential for serious respiratory compromise than those who undergo this procedure for other indications.

Prognosis

Chronic apnea can be associated with failure to thrive, attentional difficulties and other cognitive impairment, daytime drowsiness, and chronic headache.

Parasomnia

Essentials of Diagnosis

DSM-IV-TR Diagnostic Criteria

Nightmare Disorder

1. Repeated awakenings from the major sleep period or naps with detailed recall of extended and extremely frightening dreams, usually involving threats to survival, security, or self-esteem. The awakenings generally occur during the second half of the sleep period.

2. On awakening from the frightening dreams, the person rapidly becomes oriented and alert (in contrast to the confusion and disorientation seen in Sleep Terror Disorder and some forms of epilepsy).

3. The dream experience, or the sleep disturbance resulting from the awakening, causes clinically significant distress or impairment in social, occupational, or other important areas of functioning.

4. The nightmares do not occur exclusively during the course of another mental disorder (e.g., a delirium, Posttraumatic Stress Disorder) and are not due to the direct physiological effects of a substance (e.g., a drug of abuse, a medication) or a general medical condition.

Sleep Terror Disorder

1. Recurrent episodes of abrupt awakening from sleep, usually occurring during the first third of the major sleep episode and beginning with a panicky scream.

2. Intense fear and signs of autonomic arousal, such as tachycardia, rapid breathing, and sweating, during each episode.

3. Relative unresponsiveness to efforts of others to comfort the person during the episode.

4. No detailed dream is recalled and there is amnesia for the episode.

5. The episodes cause clinically significant distress or impairment in social, occupational, or other important areas of functioning.

6. The disturbance is not due to the direct physiological effects of a substance (e.g., a drug of abuse, a medication) or a general medical condition.

Sleepwalking Disorder

1. Repeated episodes of rising from bed during sleep and walking about usually ring during the first third of the major sleep episode.

2. While sleepwalking, the person has a blank, staring face, is relatively unresponsive to the efforts of others to communicate with him or her, and can be awakened only with great difficulty.

3. On awakening (either from the sleepwalking episode or the next morning) the person has amnesia for the episode.

4. Within several minutes after awakening from the sleepwalking episode, there is no impairment of mental activity or behavior (although there may initially be a short period of confusion or disorientation).

5. The disturbance is not due to the direct physiological effects of a substance (e.g., a drug of abuse, a medication) or a general medical condition.

(Reprinted, with permission, from Diagnostic and Statistical Manual of Mental Disorders, 4th edn., Text Revision. Copyright 2000 Washington, DC: American Psychiatric Association.)

General Considerations

Somnambulism and night terrors are probably of inherited origin. Nightmares are more prevalent in association with anxiety, particularly posttraumatic stress disorder. The etiology of head banging and body rocking is unknown.

Somnambulism and night terrors occur in 2.5–9% of children. Head banging and body rocking occur in 30–40% of children at 9–12 months. Their prevalence drops to about 3% after age 3 years.

Clinical Findings

Nightmares should be distinguished from night terrors. In nightmares the child wakens and recounts a frightening, realistic dream but is consolable. In night terrors the apparently terrified child sits up screaming, sometimes moving about the bedroom, but is not truly awake. When the child is laid down again, he or she returns to sleep. In somnambulism the child walks about the house, unresponsive and blank-faced.

In head banging, the child rhythmically hits his or her head against the crib, sometimes vigorously. In body rocking, the child moves his or her torso rhythmically, sometimes with accompanying vocalizations. These sleep problems affect parents and in extreme cases may so disrupt the parents' sleep that they become exhausted, begin to despair, or are set at odds with one another.

Differential Diagnosis

Somnambulism must be distinguished from nocturnal complex seizures. Complex seizures are usually associated with violent thrashing about and stereotyped movements. Post-traumatic stress disorder should also be considered.

Treatment

Nightmares

If nightmares are associated with posttraumatic stress disorder, anxiety disorder, or environmental stress, the cause of the sleep disturbance should be treated or addressed.

Night Terrors & Somnambulism

The clinician should reassure the parents that the condition is probably a variant of normal development. The child should not be woken but rather should be laid down or led back to bed to sleep. Extraneous sources of stress should be addressed.

Head Banging & Body Rocking

Isolated case reports have described the use of behavioral techniques (e.g., extinction, reinforcement of nonrocking behavior) to treat these conditions.

Complications/Adverse Outcomes of Treatment

Treatment complications are rare. Most children will improve with time.

Prognosis

Most children who develop a nightmare problem outgrow it. Sleep night terror disorder typically resolves spontaneously in adolescence.