CHAPTER 18
Elimination Disorders*
The term elimination disorders refers to the relatively common childhood disorder of enuresis and the less common problem of encopresis. Both of these disorders are self-limited and will eventually spontaneously remit. However, in the years before remission occurs, they can cause significant emotional distress to both the child and his or her family. Accordingly, it is appropriate to consider treatment approaches that have been empirically proven to be effective in limiting the duration and severity of these disorders.
Enuresis has been described throughout recorded history. A comprehensive summary by Glicklich (1951) found descriptions going back to the Papyrus Ebers of 1550 B.C. The history of enuresis is also rich with regard to the various treatment modalities that have been used, many of which would now appear to be sadistic in nature, given the current knowledge base. Unfortunately, a fairly recent large study in a Latin American country found that children with enuresis are still often the targets of physical abuse (Sapi et al. 2009).
The word enuresis is derived from the Greek word enourein, meaning "to void urine" A pathological connection is not inherent in the derivation but has been acquired over time. The word has come to denote nocturnal events, but that meaning also is not inherent in the original derivation.
The phenomenology of enuresis is simply the voiding of urine, which usually occurs during sleep. However, it can also occur during the day while the individual is awake. The word diurnal is used to describe events that occur during the day. Individuals who have episodes during both day and night are referred to as having diurnal and nocturnal enuresis. The volume of urine that is voided is not specified and technically could vary considerably while still being considered an enuretic event. The concrete nature of the enuretic event makes data collection relatively simple. It also makes it possible to quantify the magnitude of treatment effects by comparing the pre- and posttreatment weekly averages.
The DSM-5 (American Psychiatric Association 2013) criteria for enuresis (Box 18-1) are essentially identical to the DSM-IV-TR criteria (American Psychiatric Association 2000). There are two clinical subtypes of enuresis, based on the natural history of the disorder, that are not mentioned in the diagnostic criteria contained in the table but are described in the narrative section in DSM-5; those individuals who have never achieved continence have the subtype called 'primary enuresis, whereas those who were able to achieve continence but then subsequently resumed wetting have the subtype called secondary enuresis. A time period of 6 months to 1 year is usually accepted as the length of time continence must have been maintained before secondary enuresis is diagnosed, although the DSM-5 criteria do not specify the required duration of continence. The vast majority of children with enuresis wet involuntarily. The DSM-5 notation that the wetting may be "involuntary or intentional" is unfortunate, because those individuals whose events are intentional clearly differ in many ways from those for whom the events are involuntary.
Box 18-1. DSM-5 Criteria for Enuresis |
307.6 (F98.0) |
Specify whether: Nocturnal only Diurnal only Nocturnal and diurnal |
NOTICE. Criteria set above contains only the diagnostic criteria and specifiers; refer to DSM-5 for the full criteria set, including specifier descriptions and coding and reporting procedures.
The epidemiology of enuresis has proven to be relatively consistent in large, cross-sectional, national studies, over several decades. Although these studies vary with regard to the frequency of the enuretic events and the ages of the cross-sectional samples, they are similar enough to be compared. Findings from Rutter's (1989) Isle of Wight study, the first comprehensive epidemiological investigation, clearly indicated that the prevalence of enuresis diminished with advancing age; only 1.1% of 14-year-old males and 0.5% of 14-year-old females were wetting once a week. Subsequent large epidemiological studies have been generally consistent with these initial findings (Bower et al. 1996; Söderstrom et al. 2004). A more recent European study, which involved a cohort of more than 8,000 children from a large prospective longitudinal follow-up of an original birth cohort of 14,000 children, indicated that the prevalence of nocturnal enuresis was 15.5% at age 7 years. However, the percentage of the sample that experienced a frequency of two or more episodes per week was 2.6% (von Gontard et al. 2011). In an epidemiological study in the United States, which used the computerized version of the Diagnostic Interview Schedule for Children (C-DISC 4.0), Shreeram et al. (2009) found that the 12-month prevalence in 1,136 children ages 8-11 years was 4.5%, with rates of 6.21% and 2.51% in males and females, respectively. In general, the prevalence is in the 5%-10% range in 5-year-olds and in the 3%-5% range in 10-year-olds (American Psychiatric Association 2000). All of the studies document the disproportionate occurrence in males.
Various medical causes of enuresis are listed in Table 18-1. The primary concern with regard to medical comorbidity is the presence of a urinary tract infection, which can cause wetting, especially in females. The presence of structural urinary tract abnormalities as a primary cause of enuresis has been extensively investigated. Although some studies report a small percentage of children for whom such an abnormality may be a factor, the consensus is that there is not enough evidence to warrant routinely subjecting children to these invasive studies (Kawauchi et al. 1996). Recent consensus guidelines suggest that a routine physical examination to rule out obvious physical causes, such as phimosis or labial agglutination, and neurological causes is sufficient and concurs with the earlier observation about avoiding invasive studies, unless there is evidence to support the need for them (Vande Walle et al. 2012).
Enuresis has also been reported as a side effect of treatment with selective serotonin reuptake inhibitors (SSRIs) (Hergiiner et al. 2007) and second-generation antipsychotic agents (Barnes et al. 2012).
An increased prevalence of nocturnal enuretic events among children with habitual snoring and obstructive sleep apnea has been reported (Sans Capdevila et al. 2008).
Children with secondary enuresis are more apt than those with primary enuresis to present with comorbid psychiatric disorders (von Gontard et al. 1999). The psychiatric disorder about which there is the most evidence of comorbidity is attention-deficit/hyperactivity disorder (ADHD) (Baeyens et al. 2004). In their study from the United States referred to in the previous section on epidemiology, Shreeram et al. (2009) also found that ADHD was "strongly associated with enuresis." These studies support the hypothesis that enuresis is comorbid with ADHD and is not secondarily related to ADHD. Other than the association with ADHD, the primary finding has been that behavioral disorders in children with enuresis are nonspecific (Mikkelsen et al. 1980; von Gontard et al. 2011). This is consistent with a number of studies that link enuresis with a generalized developmental delay in maturation (Touchette et al. 2005).
Enuresis Urinary tract infection Diabetes insipidus Diabetes mellitus Urethritis Seizure disorder Sickle cell trait Sleep apnea Neurogenic bladder Sleep disorders Genitourinary malformation or obstruction Side effect or idiosyncratic reaction to a medication (case reports regarding SSRIs point out need to watch for chronological correlations) Encopresis Constipation Hirschsprung's disease Medical conditions producing diarrhea Side effect or idiosyncratic reaction to a medication (maintain vigilance for chronological correlation) Painful lesion Hemorrhoids (contributing to constipation) Thyroid disease Hypercalcemia Lactase deficiency Pseudo obstruction Spina bifida Cerebral palsy with hypotonia Rectal stenosis Anal fissure Anorectal trauma, including sexual abuse |
Note. SSRIs=selective serotonin reuptake inhibitors.
The etiological theories related to the phenomenon of primary nocturnal enuresis (PNE) have primarily paralleled advances in treatment of the disorder. Psychodynamic theories have largely been abandoned as effective biological treatments have been developed and the role of genetic transmission has become more apparent.
The occurrence of enuretic events during sleep and the development of polysomnographic methods that permitted continuous monitoring of sleep patterns during the night gave rise to the concept of enuresis as a "disorder of arousal" with the enuretic episodes occurring as a result of the child's inability to respond to the stimuli generated from a full bladder while in "deep sleep." However, larger, more systematic studies have indicated that the nocturnal enuretic episodes were distributed throughout all of the sleep cycles in direct proportion to the amount of time that was spent in each phase of the sleep cycle (Mikkelsen 2001).
The first dramatically effective pharmacological treatment for enuresis was imipramine, as described in MacLean's (1960) report on its efficacy in a series of children with PNE. Naturally, the initial theories related to imipramine's efficacy suggested that its positive effects were secondary to its anticholinergic effect on the urinary sphincter. However, a large double-blind study that compared imipramine with methscopolamine, which has anticholinergic effects comparable to those of imipramine but does not cross the blood-brain barrier, indicated that imipramine was significantly more effective than methscopolamine and might have a central effect (Mikkelsen and Rapoport 1980). Other studies have indicated that imipramine's effects could be mediated at the renal level by a decrease in osmosal clearance and urinary output (Hunsballe et al. 1997).
The more recent developments in the evolution of etiological theories have derived from the well-recognized efficacy of desmopressin acetate, given that desmopressin is a synthetic arginine vasopressin (antidiuretic hormone) analogue that exerts antidiuretic effects. A number of thorough and controlled investigations have indicated that the explanation for desmopressin's efficacy is not as straightforward as it might first appear. For example, a study that compared children with nocturnal enuresis (N=15) with matched control subjects (N=11) did not find any difference between the two groups with regard to atrial natriuretic peptide (ANP) levels, although the children with nocturnal emission did have increased excretion of sodium and potassium, as well as polyuria during the initial period of sleep. The abnormalities did not correlate with ANP levels, suggesting that the pathological processes were localized in the tubular structure within the kidneys (Mikkelsen 2009; Natochin and Kuznetsova 1999; Rittig et al. 1991).
Abnormalities in the normal circadian variation in the production of plasma arginine vasopressin (AVP) have also been postulated. Early investigations indicated that there were significant differences between children with PNE and controls with regard to both the production of AVP and the circadian variation (Medel et al. 1998). However, these studies did not take into account the fact that AVP is normally secreted in a pulsatile manner (Wood et al. 1994). Investigations that have taken this into account and used more frequent assessments of AVP secretion throughout the night have produced mixed results (Lackgren et al. 1997; Wood et al. 1994). More sophisticated investigational designs have looked at the hourly secretions of AVP and other relevant variables, such as nocturnal urinary volume and osmotic pressure. Based on these findings, Aikawa et al. (1998, 1999) suggested that there may be physiologically distinct subgroups. Specifically, there appeared to be a distinct subgroup that manifested both lower urinary production and low osmotic pressure and also had significantly lower AVP levels, which increased following treatment with desmopressin. The finding regarding lower nocturnal AVP levels in a subset of individuals has subsequently been confirmed by other investigations (Rittig et al. 2008).
A more purely mechanical line of investigation has focused on functional bladder capacity. An early classic study, which revealed the complexity of this issue, was performed by Shaffer et al. (1984). The operational hypothesis was that two subgroups of children with PNE could be identified: one with abnormal bladder capacity and another with behavioral disturbances. The counterintuitive results indicated that there was a group of children who had decreased bladder capacity and a greater frequency of behavioral disturbances, and another group with larger functional bladder capacity and a lower frequency of behavioral disturbances. Overall, the results were suggestive of a general developmental delay that contributed to both the decreased functional bladder capacity and the non-specific behavioral disturbances in the first group. Subsequent studies have produced variable and conflicting results; one found no difference in functional bladder capacity between children with PNE and controls (Wille 1994), and another, which used ultrasound techniques, found that bladder capacity coupled with the thickness of the bladder wall were significantly correlated with response to desmopressin (Sreedhar et al. 2008).
The observation that there is a significant hereditary component to the development of PNE is decades old, and a family history of PNE is one of the most significant risk factors (Jarvelin et al. 1988). A large contemporary study by von Gontard et al. (2011) investigated the family history in a prospective, longitudinal study that involved several thousand children and their parents. The prevalence of PNE in the children at age 7 years was 15.5%, with 12.8% having only infrequent enuretic episodes and 2.6% meeting the criteria of two or more episodes per week. The percentages of parents of these children who had a similar history of PNE were 8.8% for mothers and 9.6% for fathers. Genetic linkage studies, however, have suggested that there will not be a simple straightforward explanation, because a number of genetic loci have been found in different pedigrees, including on chromosomes 12q, 13q, 13-14q, and 22qll (Loeys et al. 2002).
Perhaps the most significant observation with regard to PNE derives from the natural history of the disorder, which indicates that it is a self-limiting disorder that will eventually spontaneously remit. In general, the epidemiological studies cited previously in this section are supportive of this observation, because they all document that the incidence of PNE decreases with each advancing age group. Yearly remission rates of 14%-16% have been reported (Fritz et al. 2004). For most children, once remission occurs, it will be sustained. However, a subgroup of children will experience transient periods of remission before final cessation of the disorder.
A child's developmental history, which includes a thorough review of the developmental milestones and toilet training, is obviously very important. The toilet training history should also include information related to the first attempts, the duration of the trials, and the methods used by the parents. Because enuresis has a strong hereditary component, a thorough multigenerational family history with a reference to individuals who might have had PNE will be helpful. In addition, it can also be helpful to ascertain the natural history of the enuretic events in family members with a childhood history of PNE. This may lead to a better understanding of when the spontaneous remission may occur in the child, although the latter point has never been thoroughly investigated.
The diagnostic criteria for enuresis relate primarily to the frequency of the events, the chronological or mental age of the child, and the natural history of the disorder. It is not uncommon for the frequency of enuretic events to fluctuate from week to week, although generally the frequency will remain consistent for a given child within a general range. For example, some children will have enuretic episodes at a relatively low frequency (in the range of 1-3 nights per week), whereas other children wet almost nightly (with a range of 5-7 nights per week). There is also a subgroup of children whose wetting episodes are much more episodic (just a few incidents per month), but these children do not meet the diagnostic criteria.
The objective nature of the enuretic event simplifies the evaluation process. It is useful to approach the problem in a nonjudgmental manner that emphasizes that the enuretic events are not voluntary. A simple calendar-tracking method can be used to record the frequency of enuretic events. This serves both to establish the diagnosis and to provide a baseline for measuring treatment effects. Both the parents and the child should be instructed to collect frequency data. It will also be useful to note the time of day in addition to the date for those children with daytime wetting. This information can then be incorporated into a "voiding diary" (Reiner 2008).
An important clinical consideration relates to whether the child ever had a period of sustained continence greater than 6 months, which is usually accepted as the time required to differentiate between primary and secondary enuresis. However, this clinically important distinction is not included in the DSM-5 diagnostic criteria, although it is discussed in the narrative material that follows the actual criteria. The current diagnostic criteria also specifically state that both voluntary and involuntary wetting are considered to be equivalent in terms of establishing the diagnosis, although these are clearly very different phenomena with regard to both etiological and treatment considerations.
The primary medical workup consists of a physical examination to rule out any obvious rare anatomical abnormalities, as well as a urinalysis to rule out a bladder infection, which can cause wetting, particularly in females. However, a bladder infection would result in a fairly abrupt and relatively recent onset of wetting. A urine dipstick test for glucose is also indicated, if there has been a recent dramatic onset of polydypsia, which could be related to new-onset diabetes mellitus. More intrusive and potentially painful diagnostic interventions are not considered necessary, unless there is reason to suspect an anatomical abnormality. Ultrasound evaluations of the bladder to assess for wall thickness and other dynamics have been pursued in research investigations but are not routinely used in clinical practice.
An important part of the assessment will also include both the child's and the family's perception of the enuresis and the effect on both the child's self-esteem and the family's interpersonal dynamics. Other than the previously mentioned high comorbidity with ADHD, there are no significant correlations between other specific psychiatric disorders and PNE. The initial evaluation will also provide an opportunity to explore possible emotional and environmental contributions to the enuresis, such as whether the child is fearful of the dark and therefore avoids getting up at night to use the bathroom.
MacLean's (1960) article describing the efficacy of imipramine for treating children with PNE was followed by a number of double-blind studies in subsequent years, which confirmed his initial uncontrolled case report series. Imipramine remained the primary pharmacological treatment for decades until the introduction of desmopressin. Although its use has diminished greatly, imipramine is still used for children who are refractory to other forms of treatment. In addition to the anticholinergic side effects, the major consideration with imipramine is the potential cardiac side effects. Thus, the usual protocol for imipramine treatment is to obtain a baseline electrocardiogram and to begin at 25 mg/day, with a slow titration of 25-mg/day increments at weekly intervals until continence is achieved; a dosage of 5 mg/kg/day is considered to be the upper limit. If dosages in the 75- to 125-mg/day range have not produced a positive response, it becomes less likely that the child will be an imipramine responder. Because the rate of spontaneous remission is significant, a standard clinical protocol includes attempting to withdraw the medication every 3 months to determine whether the enuresis has spontaneously remitted (Mikkelsen et al. 1980). Convincing data indicate that the efficacy of imipramine correlates with the steady state concentration of imipramine combined with its active metabolite desipramine (de Gatta et al. 1990; Rapoport et al. 1980). The variation in serum levels of children receiving the same dosage of imipramine has been reported to be as great as sevenfold (Fritz et al. 1994); therefore, periodic blood levels can be useful for those children who do not respond to a low dose of imipramine.
The initial form of desmopressin was a nasal preparation, which was reported as being safer than imipramine. In addition, the therapeutic mechanism appeared initially to be more physiologically understandable, as discussed above in the section on etiology. By 1993, a review article identified 18 randomized controlled studies including 689 subjects, and reported a 10%-91% range of efficacy (Moffatt et al. 1993). However, wetting almost always resumed after the desmopressin was discontinued, with only 5.7% of subjects reported as maintaining continence after discontinuation of the desmopressin. During the ensuing years, a number of case reports of clinically significant hyponatremia, seizures, and related fatalities began to emerge. Eventually, excess fluid intake was identified as a contributing factor and led to a recommendation that children not ingest more than 8 ounces of fluid on nights when desmopressin was used (Robson et al. 1996). It also appeared that younger children were at greater risk, and these severe side effects were also more apt to occur during the initial phases of treatment. By 2007, Robson et al. had reported that postmarketing data revealed 151 cases of desmopressin-related hyponatremia, of which 145 were related to the nasal preparation and only 6 to the oral form. Subsequently, the U.S. Food and Drug Administration (FDA) issued a safety alert, and the use of the nasal spray became contraindicated for PNE in children. The alert also suggested suspension of treatment with the oral preparation during acute illnesses that could interfere with fluid balance. However, in a large study of utilization rates in Germany, Hoffman et al. (2011) reported that, following this action by the FDA, prescriptions of the nasal spray decreased but did not cease. The authors also found that use of the oral tablets, which had been developed after the nasal spray, increased dramatically. A number of comparative studies have shown the oral preparation to be as effective as the nasal spray and much safer (De Guchtenaere et al. 2011).
A large randomized placebo-controlled study using 200-, 400-, and 600-μg doses of oral desmopressin indicated a linear dose response, with increasing doses correlating with decreased frequency of enuretic events (Skoog et al. 1997). The long-term use of oral desmopressin was also found to be safe in a large Canadian study (Wolfish et al. 2003). The increased safety margin is thought to be due to the pharmacokinetics of the tablet, which provides for a smoother disposition of the drug (Vande Walle et al. 2010).
The newest formulation of desmopressin is a sublingual oral lyophilisate formulation, referred to as MELT, which has been well tolerated and preferred by many children (Lottmann et al. 2007). A relatively small dose in the range of 120-240 μg has been reported to be effective (Vande Walle et al. 2006).
The pretreatment factors that appear to be associated with a positive response to desmopressin include lower frequency of baseline enuretic events, older age, and greater bladder capacity (Kruse et al. 2001).
Psychotherapeutic interventions may be useful in ameliorating the child's embarrassment and diminished self-esteem related to enuretic events (Collier et al. 2002). A therapeutic education approach is also useful in helping the family to approach treatment in a nonjudgmental, supportive manner. It is extremely important that the parents realize that PNE is not volitional in nature and that a punitive response is counterproductive.
Children who have secondary enuresis are much more apt to have psychological stressors contributing to the loss of continence and therefore may be more likely to benefit from psychotherapy (Fritz et al. 2004). A psychotherapeutic approach may also be useful for comorbid psychiatric disorders. For example, children who have comorbid ADHD and PNE may benefit from effective treatment for the ADHD.
Treatment with the bell-and-pad method of conditioning was initially described in 1904 and has been extensively studied over the ensuing decades (Rappaport 1997). In this treatment, the child sleeps on a pad that has wires attached to an alarm. When the enuretic event occurs, the urine completes an electrical circuit and the alarm sounds, waking the child. A comprehensive review of the literature reported an initial response rate of approximately two-thirds (Glazener et al. 2005). The corresponding rate of persistent remission following this form of treatment was 50%. There are two distinct subgroups of children who experience remission with the bell-and-pad method: those who learn to wake up to urinate, and those who sleep through the night without wetting. The clinical rationale for these two subgroups has never been explained. Butler et al. (2007) undertook a pre- and postalarm treatment study to investigate possible physiological explanations for success. Seventy-five percent of their subjects met success criteria and, of these, 89% predominately slept through the night on dry nights. The children who experienced success were found to have an increase in posttreatment ability to concentrate urine, and for approximately half of these subjects, this appeared to be due to an increase in vasopressin.
A significant innovation in this behavioral methodology uses an externally attached ultrasonic monitor that sounds an alarm at a specific threshold of bladder capacity (Pretlow 1999), which does away with the need for the bell-and-pad apparatus.
Investigations that have compared the bell-and-pad method to both imipramine and desmopressin have demonstrated that the efficacy of the bell and pad is comparable in terms of efficacy to pharmacological intervention, with virtually no side effects. Another advantage of the bell-and-pad method of conditioning is that the therapeutic effect is usually sustained after the cessation of treatment, whereas remission almost always occurs after the cessation of treatment with imipramine or desmopressin (Kwak et al. 2010).
A number of other behavioral strategies are commonly used, including retention control training, evening fluid restriction, reward systems, and nighttime awakening by the parents to toilet the child. A thorough review of the published literature regarding these interventions (Glazener and Evans 2004) indicated that the methodologies and small sample sizes of these reports precluded any conclusions about their efficacy. In clinical practice, parents have often attempted one or more of these treatments before seeking professional interventions.
The concomitant use of the bell-and-pad method and desmopressin has produced variable results. For example, a report by Leebeek-Groenewegen et al. (2001) indicated that the combination produced a more rapid response but did not improve the overall success rate. An investigation that paired either imipramine or desmopressin with the alarm found that neither combination was superior to the alarm alone (Naitoh et al. 2005).
Perhaps the most important factor to keep in mind when considering a treatment algorithm for a child with PNE is the spontaneous remission rate, as noted earlier in "Course and Prognosis." PNE is a self-limiting disorder. The decision to treat will primarily be related to the severity and frequency of the wetting episodes, the age of the child, and the amount of social, interpersonal distress that the disorder presents for the child and family. The distinction between primary and secondary enuresis is also important, because children with secondary enuresis are much more apt to have experienced psychosocial stressors that may both require and respond to psychotherapeutic interventions.
In a large, longitudinal follow-up study, Monda and Husmann (1995) compared the results of observation only to treatment with imipramine, desmopressin, or the bell-and-pad method. The results of this study clearly indicated the superiority of the bell-and-pad method of treatment with regard to the degree of relapse after cessation of active treatment. A subsequent systematic review of the literature involving the alarm, imipramine, and desmopressin confirmed this finding (Glazener et al. 2005).
Based on the available research results, it appears that the bell-and-pad method of conditioning would be the most rational method to consider first, because it is just as effective as the pharmacological approaches, it has a much safer side-effect profile, and its effects are sustained once continence has developed and been sustained for a period of time.
Much less published literature has been available on encopresis than on enuresis throughout recorded history. This difference most likely relates to the observation that encopresis is much less frequent than enuresis.
The definition of encopresis is similar to that of enuresis in that it is both straightforward and empirical in nature. It simply relates to the "passage of feces."
The DSM-5 diagnostic criteria for encopresis (Box 18-2) are virtually unchanged from those in DSM-IV-TR, as well as prior editions.
Box 18-2. DSM-5 Criteria for Encopresis |
307.7 (F98.1) |
Specify whether: With constipation and overflow incontinence Without constipation and overflow incontinence |
NOTICE. Criteria set above contains only the diagnostic criteria and specifiers; refer to DSM-5 for the full criteria set, including specifier descriptions and coding and reporting procedures.
The prevalence of encopresis is similar to that of enuresis in that it decreases with age and the majority of affected children are males (the male-to-female ratio is 3:1). Overall, however, the incidence of encopresis is much lower than that of enuresis. An early large study involving several thousand children reported an incidence of encopresis of 1.5% among children ages 7-8 years (Bellman 1966). More recent studies have reported similar rates (Heron et al. 2008; van der Wal et al. 2005).
As with enuresis, a higher rate of behavioral problems has been documented in individuals with encopresis than in the general population. However, the strong association with ADHD that is seen with enuresis has not been documented with encopresis. Thus, although children with encopresis have been found to exhibit a greater frequency of behavioral problems than controls, no specific pattern has been reported (Joinson et al. 2006; Mellon et al. 2006).
Chronic constipation is an important contributor to retentive encopresis. Although this constipation may be related to psychological factors in some children, some may also have a physiological predisposition, as discussed below in "Retentive Encopresis." A simple radio-graphic study, the flat plate of the abdomen, can usually detect significant constipation. An ordinary digital examination of the rectum by the child's pediatrician may also reveal an impaction. Chronic physiological disorders, such as Hirschsprung's disease, will usually have manifested much earlier in life. A list of medical causes of encopresis is provided in Table 18-1.
It is extremely important to subdivide encopresis into the two clinically relevant subtypes of retentive and nonretentive encopresis.
Clinically, retentive encopresis is more common than nonretentive encopresis, although precise figures about the relative incidence are not available. The physiological mechanism of retentive encopresis begins with chronic constipation, which creates a bolus of feces in the colon, and the encopretic event actually represents overflow of loose fecal matter around the impacted bolus of feces. Loening-Baucke (2004) carried out an impressive series of physiological studies over several years, and findings suggest that children with chronic constipation may have subtle physiological abnormalities in their colon, as well as in the anal sphincter. These elaborate studies were based primarily on the child's ability to expel a rectal balloon. However, it has not been possible to determine whether these deficits reflected an inherent physiological deficit or were the result of chronic constipation.
Nonretentive encopresis involves the voluntary or involuntary passing of feces in inappropriate places (e.g., clothing, floor). Voluntary nonretentive encopresis is at times associated with the hoarding of feces. Clearly, this pattern of encopresis represents underlying psychopathology that should be identified and addressed. This type of behavior can be seen in children who have experienced sexual abuse, but should not be considered to be a definite indication of sexual abuse (Mellon et al. 2006).
Children who manifest involuntary nonretentive fecal incontinence may have a deficit in the recognition of the need to defecate, similar to that observed in some children with enuresis. This lack of recognition may represent a lapse in attention due to an associated ADHD in some children, although a connection with ADHD has never been definitively documented. The delayed attention could also be related to obsessional traits in children who are fearful of using bathrooms outside of the home. Fear that extends to the bathrooms in the school where the child spends several hours a day could easily become problematic and account for the episodes of soiling. The clinical interview with the child and his or her family should explore these important social ecological questions.
The longitudinal trajectory of encopresis is similar to that of enuresis; both disorders usually resolve over time, and their incidence in adolescence is extremely low. Perhaps the best illustration of this comes from the studies of Loening-Baucke (2004) who, over several years, carried out investigations of treatment based on biofeedback to treat retentive encopresis. He eventually concluded that this treatment modality could not be proven to be more effective than a more traditional medical approach coupled with spontaneous remission.
The first step in treatment involves identifying whether the encopresis is of the retentive or nonretentive subtype (see earlier section "Etiology, Mechanism, and Risk Factors"), because this distinction has major treatment implications.
Obviously, children who voluntarily defecate in inappropriate places and/or hoard feces are in need of a psychological evaluation and will likely benefit from psychotherapeutic interventions. The child with nonretentive encopresis may well have a comorbid psychiatric disorder that will need to be addressed. Although the sudden emergence of these symptoms in a previously asymptomatic child has been reported as a sequela of sexual abuse (see earlier section on etiology), it can also occur as a result of other stressors and should not be assumed to be related to childhood sexual abuse (Mellon et al. 2006).
The clinical history should include a detailed description of both the context and frequency of these events so the clinician can explore for the etiological factors, which may, in turn, inform the psychological or environmental interventions that are required to address them.
The long-standing conventional intervention for retentive encopresis involves the use of physiological, behavioral, psychological, and educational interventions (Levine and Bakow 1976). The physiological component involves bowel catharsis coupled with the ongoing use of laxatives, for a period of time sufficient to develop a regular pattern of bowel movements. The behavioral component includes a fixed daily schedule of toileting in an effort to develop regular bowel habits. This component also involves the exploration of any behavioral or psychological factors that may be contributing to the underlying constipation. The educational component is targeted to both the parent and the child and is designed to inform them about the basic physiology of the bowel and the fundamental role of constipation. The success rate for this comprehensive treatment approach has been reported to be as high as 78%.
Biofeedback has been investigated as an alternate and/or adjunctive treatment for encopresis. The results of several studies have indicated that this approach cannot replace or enhance the results of the comprehensive treatment strategy (Borowitz et al. 2002; Brazzelli et al. 2011; Loening-Baucke 1990, 1995), although not all biofeedback studies have produced negative results (Croffie et al. 2005).
For the vast majority of children with retentive encopresis, a medical approach that focuses on bowel retraining coupled with psychoeducational approaches will be successful. As with enuresis, most children will experience a spontaneous remission. However, the rate at which spontaneous remission occurs is not as well documented as it is with PNE. In addition, the nature of fecal soiling is such that in almost all cases the family will elect to pursue active treatment rather than consider the possibility of a spontaneous remission. In addition, the negative physiological effects of chronic constipation mitigate toward earlier intervention.
The other specified (Box 18-3) and unspecified (Box 18-4) elimination disorder diagnostic categories are new to DSM-5 and have been added to provide clinicians with a mechanism for noting the presence of an elimination disorder that might not meet the full diagnostic criteria. The "other specified" category allows the clinician to state the specific reason that the full criteria were not met. The "unspecified" designation is used when the clinician chooses not to state the reason that criteria for a specific disorder are not met or when insufficient information is available to define the symptoms to the degree necessary to make a full diagnosis.
Box 18-3. DSM-5 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., "low-frequency enuresis"). |
Box 18-4. DSM-5 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). |
Although the literature reviewed in this chapter indicates that both enuresis and encopresis will eventually remit without treatment in almost all children, the symptoms of these disorders are so psychologically distressing that active treatment is justified to limit their duration. However, the natural history of each disorder should figure prominently in the construction of treatment algorithms, which should be based on risk-versus-benefit considerations. There is no single treatment modality that will be appropriate for every child who presents with an elimination disorder. It is hoped that the information presented here will equip clinicians with the necessary tools to work with children and their families to construct individualized treatment plans that address the specific circumstances of each child's situation.
Key Clinical Points
* The author wishes to thank Ms. Patsy Kuropatkin for her invaluable assistance with preparation of this manuscript.
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