Chapter 16 Jaclyn A. Shepard, Lee M. Ritterband, Frances P. Thorndike, and Stephen M. Borowitz Elimination disorders are commonly diagnosed in childhood and are characterized by the absence of bladder or bowel control that would be expected based on the child’s age or current stage of development. This chapter provides an overview of the two primary elimination disorders identified in the Diagnostic and Statistical Manual of Mental Disorders (5th ed.; DSM-5) (American Psychiatric Association [APA], 2013): enuresis and encopresis. The chapter reviews the clinical presentation and evidence-based treatment approaches, including parental involvement, modification and adaptations, and measuring treatment efficacy, for each disorder and provides a clinical case example. Enuresis is characterized by repeated voiding of urine into the bed or clothing in youth at least 5 years of age, chronologically or developmentally (APA, 2013). For children to meet criteria for enuresis, such voiding, whether involuntary or intentional, must occur twice a week for at least 3 months or result in clinically significant distress or functional impairment. Additionally, this behavior cannot be attributed to a medication side effect or a general medical condition (e.g., diabetes, spina bifida, epilepsy). Subtypes are identified as nocturnal only (nighttime bedwetting), diurnal only (wetting during the day), and nocturnal and diurnal. Limitations of the existing criteria have been reviewed in the literature and primarily focus on poorly defined criteria, which are too broad, yield subjective interpretation, or are restrictive to the extent that they result in the exclusion of children who would otherwise need intervention (von Gontard, 2012). It is hypothesized that different underlying etiological pathways exist for diurnal and nocturnal enuresis. Based on the greater medical comorbidities and physiological abnormalities observed in children with diurnal enuresis compared to those who experience nighttime wetting, this chapter focuses primarily on nocturnal enuresis (Järvelin et al., 1991; Rushton, 1995). Enuresis and subclinical bedwetting are common problems experienced by school-age children. Estimates from a large, longitudinal study indicate that at least 20% of first graders experience occasional bedwetting, while 4% wet the bed at least twice a week (Butler et al., 2008). Approximately 10% of school-age children experience nighttime bedwetting compared to the 2% to 3% who experience daytime wetting (McGrath, Mellon, & Murphy, 2000; von Gontard & Nevéus, 2006). Enuresis is more common in boys than girls, with rates of 9% and 7% in 7- and 9-year-old boys as compared to 6% and 3% in 7- and 9-year-old girls (Byrd, Weitzman, Lanphear, & Auinger, 1996). Early literature suggests that prevalence rates steadily decline as children get older; by adolescence, only approximately 1% to 2% experience enuresis (Feehan, McGee, Stanton, & Silva, 1990; Glazener & Evans, 2004). Nocturnal enuresis is most commonly conceptualized within a biobehavioral framework, given the strong physiological underpinnings of the problem and the associated behavioral approaches to treatment (Houts, 1991). Specifically, it is characterized by the child’s voiding of urine while asleep despite continence during the day (van Gool, Nieuwenhuis, ten Doeschate, Messer, & de Jong, 1999). A minority of these children, approximately 5% to 10%, experience a comorbid dysfunction in daytime urinary abilities (e.g., increased urgency and frequency), and approximately one third of children with nocturnal enuresis experience comorbid constipation (McGrath, Caldwell, & Jones, 2007; Schmitt, 1997). The etiology of enuresis is quite varied, which ultimately reflects the heterogeneous nature of the disorder (McGrath et al., 2000). Many children with nocturnal enuresis exhibit a maturational delay that affects their ability to detect a full bladder overnight (Campbell, Cox, & Borowitz, 2009). Functional bladder capacity may be diminished, production of vasopressin may be decreased, or there may be excessive fluid intake before bedtime, all of which may cause a release of large amounts of urine and exacerbate the child’s difficulties with urine retention while asleep (Devitt et al., 1999; Norfolk & Wooton, 2012; Yeung et al., 2002). Evidence of heritability of nocturnal enuresis is strong, as 77% of youth with enuresis have a first-degree relative with a history of the condition (von Gontard, Schaumburg, Hollmann, Eiberg, & Rittig, 2001). Although children with nocturnal enuresis commonly are considered heavy sleepers, this notion likely stems from anecdotal report, as little empirical evidence exists (Nevéus, Stenberg, Läckgren, Tuvemo, & Hetta, 1999). Psychosocial implications of enuresis have garnered much attention in the literature, but findings are inconsistent. It is estimated that upward of 20% to 30% of children with nocturnal enuresis evidence behavioral difficulties. Although this is 2 to 4 times higher than children without voiding problems, it is comparable to children with other chronic illnesses (Hirasing, van Leerdam, Bolk-Bennink, & Bosch, 1997; Liu, Sun, Uchiyama, & Okawa, 2000). However, inconsistencies across studies as well as the use of small convenience samples have precluded the identification of a definitive relationship between nocturnal enuresis and psychological problems (Wolfe-Christensen, Veenstra, Kovacevic, Elder, & Lakshmanan, 2012). Overall, given the involuntary nature of nocturnal enuresis, bedwetting is not considered a function of psychological disturbance. Rather, emotional and/or behavioral problems may result from the stigma, stress, and embarrassment associated with the child’s bedwetting. For example, early literature suggests that the emotional difficulties seen in children with nocturnal enuresis are not the cause of the condition but rather the result of negative parental response to the child’s bedwetting (Sharf & Jennings, 1988). Additionally, early studies on self-esteem indicate that bedwetting can have negative emotional effects, as youth’s self-esteem improved with treatment, but there is no evidence to support a causal relationship in the opposite direction (Hägglöf, Andrén, Bergström, Marklund, & Wendelius, 1997; Moffatt, Kato, & Pless, 1987; Panides & Ziller, 1981). Although some studies report no increase in psychological problems for children with enuresis, others have demonstrated elevated rates of clinically significant internalizing, externalizing, and attentional problems in this population based on parent report (De Bruyne et al., 2009; Friman, Handwerk, Swearer, McGinnis, & Warzak, 1998; Hirasing et al., 1997; Joinson, Heron, Emond, & Butler, 2007). Encopresis is a common problem among school-age children, affecting between 1.5% and 7.5% of youth between 6 and 12 years of age and accounting for upward of 25% of visits to a pediatric gastroenterologist and 3% to 6% of psychiatry referrals (Doleys, 1983; Levine, 1975; Olatawura, 1973). The condition is characterized by repeated defecation in inappropriate places (such as in clothing or on the floor), with episodes occurring at least once a month for 3 months (APA, 2013). For children to meet criteria for encopresis, they must be at least 4 years of age, and the behavior must not be exclusively attributed to medications or a general medical condition other than constipation. The diagnosis has two identified subtypes to indicate whether the fecal soiling is a result of constipation: with constipation and overflow incontinence and without constipation and overflow incontinence (APA, 2013). The majority of children with encopresis have an early history of chronic constipation, typically developing before 3 years of age (Partin, Hamill, Fischel, & Partin, 1992). The underlying pathophysiology of childhood constipation is based on many factors and is somewhat elusive as no specific organic cause can be identified in upward of 90% of young patients (Loening-Baucke, 1993). Characteristics of chronic constipation include infrequent bowel movements (e.g., fewer than three per week), fecal incontinence, active stool withholding, and passage of stools that are large in diameter and hard in consistency. Stool withholding occurs in nearly all (89%–100%) children with chronic constipation and in only 13% of those without (Partin et al., 1992; Taubman, 1997). With such large, hard, and difficult-to-pass stools, children often develop fearful reactions to defecation. As a result, progressive stool retention is common. In fact, children and their parents have identified fear of pain associated with defecation as a very prominent factor in the child’s constipation and active withholding (Bernard-Bonnin, Haley, Bélanger, & Nadeau, 1993; Partin et al., 1992). However, with increased stool retention, defecation then becomes even more difficult as stools get progressively larger and more difficult and painful to evacuate (Rasquin et al., 2006). In addition to pain associated with defecation, active stool retention may also result from a child’s fears around toileting, including aversions to public or unfamiliar bathrooms (Benninga, Voskuijl & Taminiau, 2004; Borowitz et al., 2003; Iacono et al., 1998). Stool-specific toileting avoidance, where the child willingly urinates but refuses to defecate in the toilet, occurs in approximately 80% of children with chronic constipation (Taubman, 1997). This behavior also occurs in approximately 20% of children without constipation who are in the toilet training process, often persisting beyond 4 years of age and requiring intervention in 25% of them (Blum, Taubman, & Nemeth, 2004; Taubman, 1997). Regardless of the etiology, chronic stool retention can result in physical discomfort for the child, including abdominal pain, loss of appetite, early satiety, nausea, and vomiting. In some cases, chronic constipation paired with long-term withholding may lead to acquired megacolon, or the stretching of the rectum walls to accommodate a large amount of retained stool, which ultimately reduces rectal muscle tone, diminishes the child’s ability to feel the urge to defecate, and increases the threshold of detection of this urge (Campbell et al., 2009; Voskuijl et al., 2006). The child may then experience overflow fecal incontinence, where fecal matter leaks around a retained mass of stool and into the child’s underwear. Such fecal incontinence typically occurs during the day, often multiple times a day, but only rarely occurs overnight, and mostly in cases of severe fecal impaction (Benninga et al., 1996). Overflow incontinence typically improves following a thorough cleanout of the bowel, and if successful cleanout is maintained for several months, defecation sensation and muscle tone often return to normal (Callaghan, 1964; van Dijk, Benninga, Grootenhuis, Nieuwenhuizen, & Last, 2007). Abnormal defecation dynamics typically develop concurrently with stool retentive behaviors and are present in an estimated 45% to 70% of children with chronic constipation as well as in those with encopresis (Loening-Baucke & Cruikshank, 1986; van der Plas et al., 1996; Weber, Ducrotte, Touchais, Roussignol, & Denis, 1987). Paradoxical contraction of the external anal sphincter (EAS) muscle, or failure to relax the EAS, is commonly associated with chronic constipation. It is hypothesized that paradoxical contraction of the EAS develops in response to painful defecation or out of the child’s attempts to control bowel movements during the toilet training process (McGrath et al., 2000). Regardless of whether the pattern was initiated as a response to fear or avoidance of pain associated with defecation or used maladaptively as a regulatory function, it becomes a conditioned response that contributes to the development or further maintenance of the child’s chronic constipation. Psychosocial consequences related to chronic constipation and encopresis remain understudied. Parenting stress associated with the child’s fecal incontinence is commonly reported in clinical settings, largely stemming from the child’s dishonesty about the occurrence of fecal accidents and the parental burden of frequent laundering of soiled clothing (Cox et al., 2003). In fact, many parents assume that the child’s laziness, carelessness, or willfulness is the primary cause of the child’s incontinence (Fishman, Rappaport, Schonwald, & Nurko, 2003). However, upon understanding the physiological factors that are involved in encopresis, they often experience feelings of guilt for taking an authoritarian (i.e., blaming or punishing) approach with the child (Campbell et al., 2009). Children with encopresis, particularly those who are older, may be teased and labeled by peers as “dirty” or “stinky.” This name-calling can persist even after the fecal incontinence resolves and can result in rejection and social isolation. Ongoing teasing and rejection, whether by peers or by parents, can be devastating for the child and may result in poor self-esteem, hostility, or continued fecal soiling as a result of learned helplessness (Campbell et al., 2009). There is some evidence that perceived quality of life is lower for children with chronic constipation compared to that of healthy children and those with other chronic medical conditions (e.g., inflammatory bowel disease, gastroesophogeal reflux disease) (Youssef, Langseder, Verga, Mones, & Rosh, 2005). Given the strong physiological underpinnings of enuresis and encopresis, medical management is often the first line of treatment or a prominent component to effective therapies. This section thereby outlines evidence-based approaches for both medical and behavioral/psychological interventions for each disorder. The spontaneous remission rate for nocturnal enuresis is approximately 15% per year, although for many children, without treatment, remission may take a number of years (Forsythe & Redmond, 1974). Therefore, it is important to initiate treatment as soon as possible to promote rapid resolution of the bedwetting with the goal of minimizing or preventing further psychosocial consequences for the child and his or her family. Prior to mental health treatment, however, children should be referred to their primary care physician or pediatric urologist for a comprehensive assessment to exclude any diseases or structural abnormalities that would cause excessive urination (e.g., urinary tract infection, diabetes, spinal cord abnormalities; Järvelin, Huttunen, Seppanen, Seppanen, & Moilanen, 1990). Additionally, medical practitioners often make recommendations regarding general management strategies, including monitoring fluid intake and routine toileting or treating comorbid constipation prior to referral for more intensive behavioral protocols (Norfolk & Wooton, 2012). The urine alarm, as discussed in the next section, is typically the first-line treatment for nocturnal enuresis, given its well-established efficacy and superiority over other therapies, including pharmacotherapy. However, desmopressin can be useful in treating enuresis, especially in circumstances where its fast-acting, albeit short-term, effects are desired (e.g., sleepovers) or in situations where the urine alarm or other behavioral methods are deemed inappropriate (e.g., various stressors that preclude consistent implementation of a behavior plan; extreme parental intolerance of bedwetting) (Butler, 2004; Norfolk & Wooton, 2012). Desmopressin is a synthetic analog of the antidiuretic hormone vasopressin, which concentrates urine, decreases urine output, and potentially increases arousability (Norfolk & Wooton, 2012). Efficacy rates vary, likely due to differences in patient populations, dosing, and behavioral therapy recommendations across studies, but, overall, desmopressin successfully reduces bedwetting (Glazener & Evans, 2004). There are few side effects of desmopressin, but children should be instructed to stop fluid intake 2 hours prior to bedtime to prevent hyponatremia with water intoxication (Robson, 2009). Long-term use of desmopressin may result in sustained improvements in bedwetting behavior in some children, but for many children, bedwetting resumes upon discontinuation of the medication (Glazener & Evans, 2004; Norfolk & Wooton, 2012). Use of desmopressin in conjunction with the urine alarm is promising and has demonstrated efficacy in children who are at risk for treatment dropout, including those with severe wetting and comorbid behavioral problems (Bradbury & Meadow, 1995; Houts, 1991). Imipramine and other tricyclic antidepressants (TCAs) have demonstrated efficacy in reducing bedwetting compared to placebo in children (Deshpande, Caldwell, & Sureshkumar, 2012). Specifically, use of TCAs resulted in reduced frequency of nighttime wetting by 1 night per week, with approximately 20% of children ultimately becoming dry. However, use of these agents in the treatment of enuresis is cautioned due to substantial adverse side effects, which may outweigh the presenting problem (e.g., mood and sleep disturbance, cardiotoxicity, and risk of death with overdose). The International Children’s Continence Society, therefore, recommends that TCAs be used only when other therapies have failed and where there is a continued significant impact on the child’s functioning (Nevéus et al., 2010). The most empirically supported treatment for nocturnal enuresis is the urine alarm (Houts, Berman, & Abramson, 1994). This approach involves the use of an alarm that is activated by moisture sensors that are either worn by the child or placed on the mattress (“bell and pad”). There is ample evidence to support the efficacy of the urine alarm as the primary approach to treatment, and it has been shown to be superior to psychotherapy and medication alone (Wagner, Johnson, Walker, Carter, & Wittner, 1982; Willie, 1986). Results of studies examining the efficacy of the urine alarm in conjunction with other behavioral strategies are promising, with an average cure rate of approximately 79% (Butler, Brewin, & Forsythe, 1988; Fielding, 1985; Geffken, Johnson, & Walker, 1986; Mellon & McGrath, 2000; Wagner et al., 1982; Whelan & Houts, 1990). However, Mellon and McGrath underscore that these combined approaches may represent an additive effect and have not been standardized or empirically tested by other investigators. Although seemingly straightforward, the urine alarm, whether used independently or in conjunction with other behavioral strategies, requires a considerable investment of time and effort from families. Poor outcome with this approach, including dropout, has been associated with prior failed treatment attempts, family history of enuresis, negative parental attitudes and beliefs about the child’s accidents, stressful home environment, and youth’s behavioral disturbance (e.g., externalizing problems) (Mellon & Houts, 1995). Therefore, the primary goals of the psychological assessment are to inform families of the demands associated with this approach, including likely disruption of sleep, and to evaluate whether they can realistically and consistently implement the treatment plan (Norfolk & Wooton, 2012; Mellon & McGrath, 2000). Stressful family circumstances, including marital problems, psychiatric or significant behavioral disturbance, and extreme parental intolerance of bedwetting, have served as significant barriers to cooperation and long-term compliance with the urine alarm intervention (Butler, Redfern, & Holland, 1994; Fielding, 1985).
Elimination Disorders
BRIEF OVERVIEW OF DISORDERS
Enuresis
Encopresis
EVIDENCE-BASED APPROACHES
Enuresis
Medical Management
Behavioral Treatment