# 11 - Elimination Disorders # Elimination Disorders 399 F98.0 Elimination Disorders Elimination disorders all involve the inappropriate elimination of urine or feces and are usually first diagnosed in childhood or adolescence. This group of disorders includes enuresis, the repeated voiding of urine into inappropriate places, and encopresis, the repeated passage of feces into inappropriate places. Subtypes are provided to differentiate nocturnal from diurnal (i.e., during waking hours) voiding for enuresis and the presence or absence of constipation and overflow incontinence for encopresis. Although there are minimum age requirements for diagnosis of both disorders, these are based on developmental age and not solely on chronological age. Both disorders may be voluntary or involuntary. Although these disorders typically occur separately, co-occurrence may also be observed. Enuresis Diagnostic Criteria A. Repeated voiding of urine into bed or clothes, whether involuntary or intentional. B. The behavior is clinically significant as manifested by either a frequency of at least 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. C. Chronological age is at least 5 years (or equivalent developmental level). D. The behavior is not attributable to the physiological effects of a substance (e.g., a diuretic, an antipsychotic medication) or another medical condition (e.g., diabetes, spina bifida, a seizure disorder). Specify whether: Nocturnal only: Passage of urine only during nighttime sleep. Diurnal only: Passage of urine during waking hours. Nocturnal and diurnal: A combination of the two subtypes above. Subtypes The nocturnal-only subtype of enuresis, sometimes referred to as monosymptomatic enuresis, is the most common subtype and involves incontinence only during nighttime sleep, typically during the first one-third of the night. The diurnal-only subtype occurs in the absence of nocturnal enuresis and may be referred to simply as urinary incontinence. Individuals with this subtype can be divided into two groups. Individuals with “urge incontinence” have sudden urge symptoms and detrusor instability, whereas individuals with “voiding postponement” consciously defer micturition urges until incontinence results. The nocturnal-and-diurnal subtype is also known as nonmonosymptomatic enuresis. Diagnostic Features The essential feature of enuresis is repeated voiding of urine during the day or at night into bed or clothes (Criterion A). Most often the voiding is involuntary, but occasionally it may be intentional. To qualify for a diagnosis of enuresis, the voiding of urine must occur at least twice a week for at least 3 consecutive months or must cause clinically significant distress or impairment in social, academic (occupational), or other important areas of functioning (Criterion B). The individual must have reached an age at which continence is expected (i.e., a chronological age of at least 5 years or, for children with developmental delays, a mental age of at least 5 years) (Criterion C). The urinary incontinence is not attributable to the physiological effects of a substance (e.g., a diuretic, an antipsychotic medication) or another medical condition (e.g., diabetes, spina bifida, ectopic ureter in a female, posterior urethral valves in a male, tethered cord, a seizure disorder) (Criterion D). Associated Features During nocturnal enuresis, occasionally the voiding takes place during rapid eye movement (REM) sleep, and the child may recall a dream that involved the act of urinating. During daytime (diurnal) enuresis, the child defers voiding until incontinence occurs, sometimes because of a reluctance to use the toilet as a result of social anxiety or a preoccupation with school or play activity. The enuretic events most commonly occur in the early afternoon on school days or after returning from school. Children with executive functioning problems and other neurological problems that may be associated with symptoms of disruptive behavior may be at high risk for urinary incontinence without sensory awareness. It is not uncommon for children with daytime urinary incontinence and the nocturnal-and-diurnal subtype of enuresis to have persistence of incontinence after appropriate treatment of an associated infection. Prevalence The prevalence of daytime incontinence ranges from 3.2% to 9.0% in children age 7 years, from 1.1% to 4.2% in youth ages 11–13 years, and from 1.2% to 3.0% in adolescents ages 15–17 years. The prevalence of nocturnal enuresis in the community decreases with age; in several geographical settings, including the United States, the Netherlands, and Hong Kong, the range is around 5%–10% among 5-year-olds, 3%–5% among 10-year-olds, and around 1% among individuals 15 years or older. Boys and members of socially oppressed groups may have higher prevalence as found in African American children in the United States and Turkish or Moroccan children in the Netherlands. The disorder may also have higher prevalence in youth with learning disabilities or attention-deficit/hyperactivity disorder. Environmental. Genetic and physiological. Development and Course Enuresis can follow two courses: a “primary” type, in which the individual has never established urinary continence, and a “secondary” type, in which the disturbance develops after a period of established urinary continence. There are no differences in prevalence of comorbid mental disorders between the two types. By definition, primary enuresis begins at age 5 years. The most common time for the onset of secondary enuresis is between ages 5 and 8 years, but it may occur at any time. After age 5 years, the rate of spontaneous remission is 5%–10% per year. Most children with the disorder become continent by adolescence, but in approximately 1% of cases the disorder continues into adulthood. Diurnal enuresis is uncommon after age 9 years. While occasional diurnal incontinence is not uncommon in middle childhood, it is substantially more common in those who also have other co-occurring mental health problems, including cognitive and behavioral problems. When enuresis persists into late childhood or adolescence, the incontinence may resolve, but urinary frequency generally persists and incontinence can recur later in adulthood in women. Risk and Prognostic Factors A number of predisposing factors for bladder dysfunction have been suggested, including developmental delays and neuropsychiatric problems. Factors recognized to be associated with bladder dysfunction include delayed toileting and psychosocial stress. Nocturnal enuresis has been associated with a mismatch between nocturnal urine production, nocturnal bladder storage capacity, and the ability to arouse from sleep. Underlying these mechanisms are possibly disorders of central nervous system signal processing and the default mode network. The increased arousal thresholds do not, however, mean that these children sleep well; in fact, sleep quality of enuretic children is often poor. Nocturnal enuresis is a genetically heterogeneous disorder. Heritability has been shown in family, twin, and segregation analyses. Risk for childhood nocturnal enuresis is approximately 3.6 times higher in offspring of enuretic mothers and 10.1 times higher in the presence of paternal urinary incontinence. The risk magnitudes for nocturnal enuresis and diurnal incontinence are similar. Culture-Related Diagnostic Issues Enuresis has been reported in a variety of European, African, and Asian countries as well as in the United States. At a national level, prevalence rates are remarkably similar, and there is great similarity in the developmental trajectories found in different countries. Local school-based surveys, however, show wide prevalence variation of nocturnal enuresis across settings in Africa, South Asia, Europe, and the Caribbean (4%–50%), at least in part due to methodological variation. The very high rates of enuresis in orphanages and other residential institutions are not explained by the mode or early timing of toilet training. Cultural contexts affect both the diagnosis and the perceived etiology of enuresis. For example, traditional Chinese medicine attributes enuresis to long-term kidney yang (masculine Neurogenic bladder or another medical condition. Medication side effects. energy) deficiency. Heightened impact on parents of children’s enuresis has been reported in societies with economic limitations in obtaining care for the child or in the context of social policies that restrict the number of children (e.g., China’s one-child policy), possibly leading to higher risk of parental emotional disorders. Sex- and Gender-Related Diagnostic Issues Nocturnal enuresis is more common in males than in females (almost 2:1). This male preponderance is particularly true in younger age groups, cases with milder severity, and cases involving enuresis occurring only at night. Urinary tract infections are frequently associated with daytime wetting, especially in females. Diurnal incontinence is more common in females than in males, and the ratio increases with age. The relative risk of having a child who develops enuresis is greater for previously enuretic fathers than for previously enuretic mothers. Functional Consequences of Enuresis The amount of impairment associated with enuresis is a function of the limitation on the child’s social activities (e.g., ineligibility for sleep-away camp) or its effect on the child’s self-esteem, the degree of social ostracism by peers, and the anger, punishment, and rejection on the part of caregivers. Differential Diagnosis The diagnosis of enuresis is not made in the presence of a neurogenic bladder or any other structural condition (such as a posterior urethral valve or ectopic ureter) or another medical condition that causes polyuria or urgency (e.g., untreated diabetes mellitus or diabetes insipidus) or during an acute urinary tract infection. However, a diagnosis is compatible with such medical conditions if urinary incontinence was regularly present prior to the development of another medical condition or if it persists after the institution of appropriate treatment of the medical condition. Enuresis may occur during treatment with antipsychotic medications, diuretics, or other medications that may induce constipation, polyuria, or alterations in executive functioning, all of which may lead to incontinence. In this case, the diagnosis should not be made in isolation but may be noted as a medication side effect. However, a diagnosis of enuresis may be made if urinary incontinence was regularly present prior to treatment with the medication. Comorbidity Although most children with enuresis do not have a comorbid mental disorder, the prevalence of comorbid behavioral and developmental symptoms is higher in children with both diurnal and nocturnal enuresis than in children without incontinence. Developmental delays, including speech, language, learning, and motor skills delays, are also present in a portion of children with enuresis. Encopresis and constipation are present in both day and night incontinence. Restless legs syndrome and parasomnias such as non–rapid eye movement sleep arousal disorders F98.1 (sleepwalking and sleep terror types) are associated with nocturnal enuresis. Additionally, there is a link between nocturnal enuresis and heavy snoring or sleep apneas. Approximately 50% of enuretic children with proven sleep-disordered breathing will become dry by undergoing adenotonsillectomy. Urinary tract infections are more common in children with daytime urinary incontinence and nonmonosymptomatic nocturnal enuresis, especially the diurnal subtype, than in those who are continent. Encopresis Diagnostic Criteria A. Repeated passage of feces into inappropriate places (e.g., clothing, floor), whether involuntary or intentional. B. At least one such event occurs each month for at least 3 months. C. Chronological age is at least 4 years (or equivalent developmental level). D. The behavior is not attributable to the physiological effects of a substance (e.g., laxatives) or another medical condition except through a mechanism involving constipation. Specify whether: With constipation and overflow incontinence: There is evidence of constipation on physical examination or by history. Without constipation and overflow incontinence: There is no evidence of constipation on physical examination or by history. Subtypes Feces in encopresis, “with constipation and overflow incontinence” subtype, are characteristically (but not invariably) poorly formed, and leakage can be infrequent to continuous, occurring throughout the day and at times during sleep. Only part of the feces is passed during toileting, and the incontinence resolves after treatment of the constipation. In the “without constipation and overflow incontinence” subtype, feces are likely to be of normal form and consistency, and soiling is intermittent. Feces may be deposited in a prominent location. This is usually associated with the presence of oppositional defiant disorder or conduct disorder or may be the consequence of anal masturbation. Soiling without constipation is less common than soiling with constipation. Diagnostic Features The essential feature of encopresis is repeated passage of feces into inappropriate places (e.g., clothing or floor) (Criterion A). Most often the passage is involuntary but occasionally may be intentional. The event must occur at least once a month for at least 3 months (Criterion B), and the chronological age of the child must be at least 4 years (or for children with developmental delays, the mental age must be at least 4 years) (Criterion C). The fecal incontinence must not be exclusively attributable to the physiological effects of a substance (e.g., laxatives) or another medical condition except through a mechanism involving constipation (Criterion D). When the passage of feces is involuntary rather than intentional, it is often related to constipation, impaction, and retention with subsequent overflow. The constipation may develop for psychological reasons (e.g., anxiety about defecating in a particular place, a more general pattern of anxious or oppositional behavior), leading to avoidance of defecation and excessive volitional stool retention. Physiological predispositions to constipation include ineffectual straining or paradoxical defecation dynamics, with contraction rather than relaxation of the external sphincter or pelvic floor during straining for defecation. Dietary habits (such as insufficient fluid intake), celiac disease, hypothyroidism, or a medication side effect can also induce constipation. Once constipation has developed, it may be complicated by an anal fissure, painful defecation, and further fecal retention. The consistency of the stool may vary. In some individuals the stool may be of normal or near-normal consistency. In other individuals—such as those with overflow incontinence secondary to fecal retention—it may be liquid. Associated Features The child with encopresis often feels ashamed and may wish to avoid situations (e.g., camp, school) that might lead to embarrassment. The amount of impairment is a function of the effect on the child's self-esteem, the degree of social ostracism by peers, and the anger, punishment, and rejection on the part of caregivers. Smearing feces may be deliberate or accidental, resulting from the child’s attempt to clean or hide feces that were passed involuntarily. When the incontinence is clearly deliberate, features of oppositional defiant disorder or conduct disorder may also be present. Many children with encopresis and chronic constipation also have enuresis symptoms and may have associated urinary reflux in the bladder or ureters that may lead to chronic urinary infections, the symptoms of which may remit with treatment of the constipation. Prevalence It is estimated that the majority of children older than 4 years with encopresis have the subtype “with constipation and overflow incontinence.” Encopresis affects 1%–4% of children in highincome countries, while in some Asian countries (Iran, South Korea, Sri Lanka) a prevalence of 2%–8% has been reported. Encopresis is more prevalent among children ages 4–6 years (> 4%) than among children ages 10–12 years (< 2%); prevalence is also higher among children who experience early abuse or neglect and low-income youth. Development and Course Encopresis is not diagnosed until a child has reached a chronological age of at least 4 years (or for children with developmental delays, a mental age of at least 4 years). Inadequate, inconsistent toilet training and psychosocial stress (e.g., entering school, the birth of a sibling) may be predisposing factors. Two types of course have been described: a “primary” type, in which the individual has never established fecal continence, and a “secondary” type, in which the disturbance develops after a period of established fecal continence. Encopresis can persist, with intermittent exacerbations, for years. Risk and Prognostic Factors Painful defecation can lead to constipation and a cycle of withholding behaviors that make encopresis more likely. Male gender and age prior to adolescence are risk factors for encopresis. A number of factors are thought to contribute to the development of fecal incontinence, including anxiety, depression, behavioral disorders, psychological stressors (e.g., bullying, poor school performance), and lower socioeconomic status. Culture-Related Diagnostic Issues Differences in food and beverage intake in different cultures, hot climatic conditions in tropical countries, and psychosocial adversity may influence the incidence of constipation, unexplained abdominal pain, and fecal retention that lead to encopresis. Parents in some societies may not seek health services for encopresis because of sociocultural reasons. For example, Turkish and Moroccan parents in the Netherlands may not report encopresis because of religious concerns about the impurity of urine and feces. Sex- and Gender-Related Diagnostic Issues In children younger than 5 years, the gender ratio appears to be equal, but encopresis tends to be more common in boys than in girls among older children, with a ratio that varies globally (in community and hospital-based studies) from 2:1 (in the United States) to 6:1. Diagnostic Markers The diagnosis of encopresis is a clinical diagnosis based on history and physical examination and generally does not require any diagnostic testing. Detection of a rectal fecal impaction by digital rectal examination would support the diagnosis of encopresis, with constipation and overflow incontinence. Although not indicated for the diagnosis of encopresis, an abdominal radiograph demonstrating a fecal impaction would also support the diagnosis of encopresis, with constipation and overflow incontinence. Colonic transit testing, which typically involves ingestion of radiopaque markers followed by abdominal imaging to evaluate colonic transit time, can help differentiate between encopresis with or without constipation and overflow incontinence. Abdominal imaging demonstrating retention of radiopaque markers would suggest encopresis, with constipation and overflow incontinence, while prompt evacuation of radiopaque markers would support the diagnosis of encopresis, without constipation and overflow incontinence. In certain children, anorectal manometry testing may be helpful for better understanding physiological factors that may be contributing to encopresis. Anorectal manometry allows for evaluation of anorectal function and sensation. In the child with refractory symptoms or signs suggesting the presence of an underlying medical condition leading to fecal incontinence, further evaluation may be indicated. Such evaluation is designed to exclude other medical conditions. Functional Consequences of Encopresis Encopresis is associated with a significant decrease in health-related quality of life and family functioning, particularly in older children. Differential Diagnosis A diagnosis of encopresis in the presence of another medical condition is appropriate only if the mechanism involves constipation that cannot be explained by other medical conditions. Fecal incontinence related to other medical conditions (e.g., chronic diarrhea, spina bifida, anal stenosis) would not warrant a DSM-5 diagnosis of encopresis. Comorbidity Enuresis is often present in children with encopresis, particularly in children with encopresis, without constipation and overflow incontinence. Other Specified Elimination Disorder This category applies to presentations in which symptoms characteristic of an elimination disorder that cause clinically significant distress or impairment in social, occupational, or other important areas of functioning predominate but do not meet the full criteria for any of the disorders in the elimination disorders diagnostic class. The other specified elimination disorder category is used in situations in which the clinician chooses to communicate the specific reason that the presentation does not meet the criteria for any specific elimination disorder. This is done by recording “other specified elimination disorder” followed by the specific reason (e.g., “lowfrequency enuresis”). Coding note: Code N39.498 for other specified elimination disorder with urinary symptoms; R15.9 for other specified elimination disorder with fecal symptoms. Unspecified Elimination Disorder This category applies to presentations in which symptoms characteristic of an elimination disorder that cause clinically significant distress or impairment in social, occupational, or other important areas of functioning predominate but do not meet the full criteria for any of the disorders in the elimination disorders diagnostic class. The unspecified elimination disorder category is used in situations in which the clinician chooses not to specify the reason that the criteria are not met for a specific elimination disorder and includes presentations in which there is insufficient information to make a more specific diagnosis (e.g., in emergency room settings). Coding note: Code R32 for unspecified elimination disorder with urinary symptoms; R15.9 for unspecified elimination disorder with fecal symptoms.