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Functional constipation in infants, children, and adolescents: Clinical features and diagnosis

Functional constipation in infants, children, and adolescents: Clinical features and diagnosis
Author:
Manu R Sood, MBBS, FRCPCH, MD, MSc
Section Editor:
B UK Li, MD
Deputy Editor:
Alison G Hoppin, MD
Literature review current through: Dec 2022. | This topic last updated: Sep 20, 2021.

INTRODUCTION — Functional constipation is responsible for more than 95 percent of cases of constipation in healthy children one year and older and is particularly common among preschool-aged children [1]. Although it is common, the complaint should not be ignored, because children with functional constipation will benefit from prompt and thorough evaluation and treatment. Delayed or inadequate intervention may result in stool-withholding behavior, with worsening constipation and psychosocial consequences.

The clinician also has an important role in identifying the small fraction of children with organic causes of constipation. Organic causes of constipation are more likely among young infants, and among infants and children presenting with atypical features or "alarm signs" (table 1).

The clinical features that are typical for functional constipation are described in this topic review, and features of specific organic causes of constipation are summarized briefly. Other aspects of managing the infant or child with constipation are discussed in the following topic reviews:

(See "Constipation in infants and children: Evaluation".)

(See "Functional fecal incontinence in infants and children: Definition, clinical manifestations, and evaluation".)

(See "Chronic functional constipation and fecal incontinence in infants, children, and adolescents: Treatment".)

(See "Recent-onset constipation in infants and children".)

EPIDEMIOLOGY — Constipation affects 10 to 30 percent of children and accounts for an estimated 3 to 5 percent of all visits to pediatricians [2-4]. The peak prevalence is during the preschool years in most reports. There is no consistent predisposition by sex on the prevalence of childhood constipation. Functional constipation is responsible for more than 95 percent of cases of constipation in healthy children one year and older and is particularly common among preschool-aged children [1]. Older children and adolescents may have unrecognized functional constipation; this may not come to medical attention if they are not comfortable discussing their bowel habits. Long-term follow-up studies have shown that up to 25 percent of children who receive treatment for functional constipation as children still experience symptoms of constipation as adolescents and adults [5].

CONTRIBUTING FACTORS

Infants and children – There are three periods during which the infant and developing child are particularly prone to developing functional constipation [6]:

After the introduction of cereals and solid food into the diet (age six months to one year)

During toilet training (age two to three years)

During the start of school (age three to five years)

These important developmental milestones can be positive experiences. On the other hand, each of these milestones can convert defecation into an unpleasant experience. That unhappy experience may prompt the child to try to avoid repeating it, leading to behaviors that promote constipation.

Adolescents – The pathophysiology of functional constipation in adolescents shows similarities with younger children. In adolescents, eating disorders, school stressors, and attention deficit hyperactivity disorder (ADHD) may promote or exacerbate the constipation. In patients with anorexia nervosa or bulimia, constipation can result from inadequate food and fluid intake. Fecal incontinence associated with functional constipation is especially distressing in adolescent patients; it is associated with low self-esteem and social isolation and can have a major deleterious impact on quality of life [7,8].

If patients with constipation have lower abdominal pain that persists after laxative therapy despite passing regular, soft bowel movements, constipation-predominant irritable bowel syndrome should be considered as a diagnosis (table 2). (See "Functional abdominal pain in children and adolescents: Management in primary care".)

Painful defecation — Painful defecation is a common trigger for stool withholding and contributes to the development and persistence of chronic constipation (table 3). When the child avoids defecation because of pain, stool accumulates in the rectum and becomes harder or larger, causing even more pain when they are passed. The underlying problem of constipation must be addressed promptly to avoid this escalating cycle.

Children who withhold stool to avoid defecation because of pain or other negative experiences have a form of functional or behavioral constipation [9]. The child's response to ignore the urge to defecate is probably a conscious decision initially but later becomes automatic. The only abnormal motor activity in most children with chronic constipation is found in the rectum, which may dilate to such an extent that insufficient pressure is generated to push the stool into the anal canal. Manometric studies have suggested that some constipated children have "dyssynergia" (contraction of the external sphincter when they try to defecate), but some experts consider this finding to be voluntary (ie, the manometric equivalent of withholding) [9]. Other children appear to have poor relaxation of the internal sphincter (which is not under voluntary control), known as internal anal sphincter (IAS) achalasia. The prevalence of this condition and its underlying implications are not well defined. Some patients with this finding respond to periodic treatment with botulinum toxin to help relax the anal sphincter (see 'Other causes' below). In selected populations, such as children with severe slow-transit constipation refractory to standard treatment, abnormalities of colonic motility and histology have been reported, suggesting underlying neuromuscular dysfunction [10].

Painful defecation frequently precedes chronic fecal impaction and fecal soiling, especially in young toddlers. As an example, a retrospective study reviewed 227 children who presented to a pediatric gastroenterologist with difficult defecation [11]. Of the 35 percent who were less than three years of age, 86 percent presented with pain, 71 percent with impaction, and 97 percent with severe withholding. The younger children had painful defecation for a mean of 14±9 months before presentation. Of the older children, 85 percent presented with fecal soiling, 57 percent with pain, 73 percent with fecal impaction, and 96 percent exhibited withholding. Sixty-three percent of the children presenting with fecal soiling had a history of painful defecation beginning before three years of age, prior to the development of fecal soiling.

Toilet training issues — Toilet training is a developmental milestone that affects self-esteem and independence. To master toileting, a toddler must develop the ability and interest in retaining a bowel movement until it can be released into the toilet. This behavior often leads to less frequent defecation and may lead to hard and painful bowel movements, which in turn lead to further voluntary withholding. The problem may be exacerbated if toilet training is too vigorously encouraged before the child is developmentally ready. Power struggles may develop if toilet training is forced on an unready child by a parent or caregiver, potentially leading to various problems, one of which is constipation. Children with hyperactivity disorders, sensory disorders, and/or autism may be at higher risk of having additional difficulties with toileting training, which triggers or exacerbates constipation [12,13].

The American Academy of Pediatrics (AAP) emphasizes that parents and caregivers should avoid coercing their children into toilet training and instead watch for signs that the child is developmentally ready [14,15]. Toilet training works best when it is aligned with the child's signs of readiness to progress past each phase. Visits to the health care provider can help parents anticipate and optimally manage the steps in the process. (See "Toilet training".)

Dietary considerations — The modern diet has been cited as a contributor to childhood constipation. Unlike previous generations, children today consume large amounts of highly processed food items at the expense of fruit, vegetables, and fiber. Although increasing the intake of fiber is often recommended for acute and chronic constipation, the evidence base for this practice is weak and somewhat conflicting [16-18]. While a balanced diet including fruits, vegetables, and fiber is recommended in all children and may be useful in preventing or treating mild constipation, there is little evidence that adding fiber to the diet is an effective treatment for severe constipation. (See "Chronic functional constipation and fecal incontinence in infants, children, and adolescents: Treatment", section on 'Dietary changes'.)

In infants, the addition of cereals to the diet often causes the stools to become more formed and sometimes triggers constipation. This trigger usually can be identified by a focused history. (See "Recent-onset constipation in infants and children", section on 'Transition to solid diet or introduction of cow's milk'.)

The relationship between cow's milk and constipation is controversial [19]. Some infants or children do seem to have improvement in constipation when switched from cow's milk to a soy formula [20]. An allergic mechanism has been suggested but not established. (See 'Cow's milk intolerance' below.)

Predisposing conditions — Autism spectrum disorders (ASD) appear to predispose to functional constipation with or without fecal incontinence. In a referral population, nearly 30 percent of children with functional constipation had symptoms of ASD, as determined by screening questionnaires; these children tended to be older and had longer duration of symptoms as compared with children with functional constipation but without ASD symptoms [21]. It is likely that the prevalence of ASD is considerably lower in a non-referral or younger population of children with functional constipation.

Similarly, functional constipation and associated fecal incontinence are particularly common among children with ADHD [12,22]. The mechanism for the association between ADHD and functional constipation is not clear but may include atypical sensory processing or ignoring of sensory stimuli, other factors that interfere with the normal progress of toilet training, or side effects of medications used to treat ADHD.

Familial predisposition — Children in some families may be predisposed to developing constipation. In one longitudinal study, a family history of constipation was observed in more than one-half of children with chronic constipation and soiling seen over a seven-year period [23]. The reasons for this familial tendency are not clear and may include shared genetic, environmental, and/or dietary factors [24,25].

CLINICAL FEATURES

Functional constipation — Functional constipation describes persistently difficult, infrequent, or seemingly incomplete defecation, without evidence of a primary anatomic or biochemical cause [26]. This definition is operationalized by the "Rome IV" diagnostic criteria, which require at least two of six symptoms describing stool frequency, hardness, and size; fecal incontinence; or volitional stool retention (table 4), with the stipulation that organic causes of constipation are excluded by a thorough evaluation [27,28].

The extent of the diagnostic evaluation to exclude organic causes is not specifically defined. In most cases, organic causes of constipation can be largely excluded on the basis of a careful history and physical examination. Focused laboratory and radiographic testing should be performed for children with atypical features (warning signs of possible organic constipation) or for those who fail to respond to a systematic and carefully administered intervention program, including disimpaction, frequent and effective use of laxatives, and behavioral management for at least six months. Selection of tests is discussed separately. (See "Constipation in infants and children: Evaluation", section on 'Adjunctive testing for selected patients'.)

Infant dyschezia is a functional disorder that is a frequent cause of constipation-like symptoms in infants. (See 'Infant dyschezia' below.)

Associated symptoms — Fecal incontinence (the preferred term over encopresis or soiling) is now included among the diagnostic criteria for functional constipation. This is because 80 percent of children with fecal incontinence have underlying constipation. Conversely, fecal incontinence ultimately develops in up to 50 percent of children with chronic refractory constipation [29]. The likely mechanism is that with chronic rectal distension, the anal canal shortens and the internal anal sphincter dilates. In this state, a transient relaxation of the external anal sphincter releases semisolid stool onto the perianal skin and clothing. Among children with constipation, there are no clear differences in pathophysiology or psychology between those with and without fecal incontinence. This issue is discussed in detail separately. (See "Functional fecal incontinence in infants and children: Definition, clinical manifestations, and evaluation".)

Abdominal pain is often associated with functional constipation but is not among the diagnostic criteria. Approximately 90 percent of children presenting with recurrent abdominal pain have a functional etiology such as constipation or irritable bowel syndrome [30]. In fact, one study suggests that clinicians tend to over-diagnose constipation and under-diagnose irritable bowel syndrome [31]. (See "Chronic abdominal pain in children and adolescents: Approach to the evaluation".)

DIAGNOSIS

Diagnostic criteria — A multinational working team developed criteria for functional gastrointestinal disorders known as the "Rome IV" criteria [27,28]. For children and adolescents with developmental age of four years or older, functional constipation is defined by the presence of at least two of the following symptoms occurring at least once per week for at least one month, which are not explained by another medical condition (table 4):

Two or fewer defecations per week

At least one episode of fecal incontinence per week

History of retentive posturing or excessive volitional stool retention (stool withholding)

History of painful or hard bowel movements

Presence of a large fecal mass in the rectum

History of large-diameter stools that may obstruct the toilet

For infants and toddlers, the criteria are modified to reflect age-appropriate toileting skills (table 4).

Exclusion of organic causes — The diagnosis of functional constipation also requires exclusion of organic causes of the symptoms. Organic causes are responsible for fewer than 5 percent of children with constipation [6,30] but are more common among young infants and among infants and children presenting with atypical features or "alarm signs" (table 1). (See "Constipation in infants and children: Evaluation", section on 'Alarm symptoms and signs'.)

The main causes are listed in the table for infants (table 5) or older children (table 6). (See 'Differential diagnosis' below.)

Particular attention should be paid to the following causes, which are relatively common or require urgent diagnosis:

Common organic causes – Cow's milk (or other dietary protein) intolerance, celiac disease, hypothyroidism

Urgent causes:

Infants – Hirschsprung disease, spinal dysraphism, sacral teratoma, infantile botulism

All ages – Cystic fibrosis, lead poisoning, intestinal obstruction

Recent-onset versus chronic constipation — Although a diagnosis of functional constipation requires symptom duration of at least one month, there is no other consensus definition to distinguish types based on duration. However, in clinical practice, it is useful to distinguish between patients with recent-onset constipation compared with longer duration of symptoms or relapsing disease course:

Recent-onset constipation – We consider constipation to be "recent-onset" if symptoms have been present for eight weeks or less. These children often respond to short-term intervention, such as administration of laxatives for several days or weeks, or a brief behavioral intervention. (See "Recent-onset constipation in infants and children".)

Chronic constipation – We consider constipation to be chronic if symptoms have been present for three months or more, which may include multiple episodes of symptoms. These children typically require longer treatment with laxatives and more intensive and sustained behavioral support. (See "Chronic functional constipation and fecal incontinence in infants, children, and adolescents: Treatment".)

These categories are simply tools to guide clinical practice. They are not mutually exclusive and do not capture patients with intermittent or intermediate duration of symptoms. For many patients, the chronicity of the constipation only becomes clear during the course of ongoing evaluation and management.

Patients who do not respond to treatment should be further evaluated to determine adherence to therapy and identify psychosocial and behavioral contributors. Repeated failure despite adequate compliance requires reconsideration of the diagnosis and the possibility of motility testing. (See "Constipation in infants and children: Evaluation", section on 'Motility testing for patients with functional constipation refractory to treatment'.)

DIFFERENTIAL DIAGNOSIS — Organic causes account for fewer than 5 percent of cases of constipation [6,30]. These usually can be distinguished from functional constipation by clinical features on the history or physical examination (table 7). The following sections will focus on the causes that are relatively frequent considerations in clinical practice and on less common disorders that may be easy to miss (table 6). The diagnostic process is described in a separate topic review. (See "Constipation in infants and children: Evaluation".)

Infant dyschezia — Dyschezia describes ineffective defecation, manifested as straining in the absence of constipation. Infant dyschezia is a functional disorder, defined as at least 10 minutes of straining and crying before successful passage of soft stool in an otherwise healthy infant younger than nine months of age [27,32]. The symptom is probably caused by failure to relax the pelvic floor during the defecation effort. In addition, infants also have inadequate abdominal muscle tone to produce a Valsalva maneuver.

Infant dyschezia generally resolves spontaneously as the infant matures, and reassurance of the parents is appropriate [27]. Rectal stimulation may be counterproductive, and laxatives are generally unnecessary.

Infants with dyschezia must be distinguished from those with painful bowel movements due to formed stools or anal fissures, or those with food protein-induced proctitis (table 5). Infants who experience pain while defecating can learn withholding behavior. This is manifested by stiffening of the body and turning red in the face, which appears very similar to infant dyschezia. Therefore, it is important to evaluate an infant with suspected dyschezia to determine whether the bowel movements are hard and/or if there is any evidence of anal fissures or irritation.

Hirschsprung disease — Hirschsprung disease is an important consideration in newborns and young infants presenting with constipation. Hirschsprung disease is a motor disorder of the colon caused by the congenital absence of ganglion cells in the rectum and distal colon. As a result, the affected segment of the colon fails to relax, causing a functional obstruction. Although it is relatively uncommon (approximately 1 in 5000 live births), prompt diagnosis is important to avoid complications, which may be life-threatening. Hirschsprung disease is associated with several congenital abnormalities and syndromes, including Down syndrome and cardiac disease (especially septal defects). (See "Congenital aganglionic megacolon (Hirschsprung disease)".)

Hirschsprung disease should be suspected in the following circumstances [18,33]:

Onset of symptoms in the first week of life

Delayed passage of meconium (first meconium passed after 48 hours of life)

Abdominal distension

Vomiting

A transition zone on a contrast enema

The following clinical features are unusual in children with Hirschsprung disease:

History of passage of large-caliber stool

History of anal fissures

Rectal fecal impaction on digital rectal examination

Overflow fecal incontinence

Hirschsprung disease usually is diagnosed in newborns or within the first few months of life. Other causes of constipation or delayed passage of meconium in the early neonatal period are listed in the table (table 8). Infrequently, Hirschsprung disease may not be diagnosed until later in infancy or childhood if the disease is milder (eg, "ultrashort-segment" Hirschsprung disease). Such patients typically have a history of chronic constipation and poor weight gain. The physical examination may reveal a tight anal canal and empty ampulla. Very rarely, Hirschsprung disease is diagnosed in adulthood. (See "Congenital aganglionic megacolon (Hirschsprung disease)", section on 'Evaluation'.)

Slow-transit constipation — Slow-transit constipation describes a subgroup of patients with abnormally slow movement of food residue through the colon, in whom no underlying disease can be identified. It is generally defined as a colon transit time >100 hours as defined by radiopaque markers. (See "Constipation in infants and children: Evaluation", section on 'Radiopaque marker studies'.)

Slow-transit constipation is a clinical description rather than a disease because it remains unclear whether this group of children is distinct from those with functional constipation, many of whom have relatively delayed colonic transit, in which case, cause or effect may be difficult to ascertain. Most children with slow-transit constipation have no identifiable underlying disease or pathologic finding. Typical features of patients with refractory slow-transit constipation are symptoms of severe constipation within one year of age, or treatment-resistant encopresis at two to three years of age, and infrequent bowel movements (passing less than one stool a week) despite soft stools, as well as lack of response to optimal standard therapy with laxatives and behavioral intervention [34,35].

Children with slow-transit constipation are managed in the same way as other children with functional constipation, but they have a worse prognosis for prompt recovery [36]. A subset of these patients respond to standard treatment with laxatives and behavioral interventions. However, many develop chronic intractable disease and have a poor outcome. We suggest early referral to a gastroenterologist for patients with this profile.

A few children with slow-transit constipation have disorders associated with colonic dysmotility, which include intestinal neuronal dysplasia and intestinal neuronal dysplasia type B. The utility of this histopathologic diagnosis has been limited by inconsistent diagnostic standardization, and it remains unclear if there is a causal relationship between the histologic findings and clinical symptoms [37]. Patients with slow-transit constipation who do not respond well to standard therapy may benefit from further motility studies to assess for a colon neuromuscular abnormality. (See 'Other causes' below and "Constipation in infants and children: Evaluation", section on 'Anorectal manometry'.)

Cow's milk intolerance — An association between cow's milk consumption and constipation is suggested by observations of improvement after elimination of cow's milk from the diet in some infants and children [20]. As an example, one study focused on 65 children (ages 11 to 72 months) with chronic constipation who had been referred to a pediatric gastroenterology clinic [38]. Patients were given cow's or soy milk for two weeks; feedings were reversed after a one-week washout period. Improvement in constipation was observed in 68 percent of children when fed with soy milk compared with none of the children with cow's milk.

The mechanism of this association is unclear, but an allergic basis has been suggested [39,40]. In the study described above, responding children were more likely to have coexistent rhinitis, dermatitis, or bronchospasm [38]. They were also more likely to have anal fissures and erythema or edema at baseline, evidence of inflammation of the rectal mucosa, and signs of hypersensitivity (such as specific immunoglobulin E [IgE] antibodies to cow's milk antigens). It is possible that constipation in this subset of children is a manifestation of a cow's milk "protein intolerance," which typically manifests during infancy as colitis or enterocolitis. (See "Food protein-induced allergic proctocolitis of infancy".)

It remains possible that an association between cow's milk and constipation is explained by nonspecific mechanisms, similar to the changes in stool consistency caused by other dietary changes.

Anorectal anomalies

Clinical presentation – Anorectal anomalies represent failure of development of the anal tract. On physical examination, this may be described as an "imperforate anus" if the lack of an anal opening is noted. In other cases, they may be described as an "anteriorly displaced anus" or "ectopic anus," which are terms that describe a rectoperineal fistula rather than a true anus. The anomaly may be overlooked in a newborn because some meconium may be passed through the fistula or vaginal opening.

Occasionally, the possibility of an anteriorly displaced anus arises in an older child during an evaluation for constipation. However, it is important to recognize that an anteriorly displaced anus causes constipation only when the anus is substantially displaced or there is associated anal stenosis [41,42]. There is little evidence that mildly or moderately displaced anus contributes to constipation [43,44]. A careful examination of the perineum and a digital rectal examination are essential. If an awake child is uncooperative and there are significant concerns for an anorectal anomaly, examination under anesthesia may be needed.

Classification and associations with other anomalies – The full spectrum of anorectal anomalies can be categorized as complex defects (in which the fistula connects the rectum with the urogenital tract above the puborectalis muscle or there is persistent cloaca) and non-complex defects (rectoperineal fistula [also known as an anteriorly displaced anus] or rectovestibular fistula) (figure 1) [45]. Anorectal anomalies are frequently associated with other anomalies, including the VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) [46]. In one series from a referral center, urinary tract anomalies were found in 45 percent of patients with complex anorectal malformations and 15 percent of those with less complex malformations (perineal or vestibular fistula) [47].

Physical examination – The possibility of an anteriorly displaced anus is suggested by noting that the anal opening is not located in the center of the pigmented area of the perineum (picture 1A-B).

The Anal Position Index (API) may be used as a guide to support the diagnosis of anteriorly displaced anus but is not sufficient to determine whether this variant is the cause of constipation in an individual patient or to make decisions about surgical decisions. This is because accurate measurement is difficult, normal ranges and cutoffs differ among studies, and an abnormal API is only moderately associated with constipation [48]. Thus, if a child with an anteriorly displaced anus has intractable constipation, they should be evaluated by an expert for consideration of examination under anesthesia and anorectal surgery [41,42].

The API is defined by the following ratios (figure 2); values from one study of neonates are [48]:

Girls – Anus-fourchette/coccyx-fourchette

Normal API is 0.4±0.1 (mean ±2 standard deviations). Thus, the anus is in an abnormal position if the API is <0.3.

Boys – Anus-scrotum/coccyx-scrotum

Normal API is 0.53±0.12 (mean ±2 standard deviations). Thus, the anus is in an abnormal position if the API is <0.41.

Interpretation – The API cutoff for defining anteriorly displaced anus is typically set at 2 standard deviations below the mean in a population (eg, API <0.3 for girls and <0.41 for boys, as shown above) [48]. By definition, these cutoffs identify approximately 2 percent of infants with the most anteriorly located anuses.

An abnormal API is moderately associated with constipation, but is not sufficient to predict abnormal function or need for intervention. In one cohort of female neonates with abnormal API, 31 percent (4 of 13) had severe constipation within the first few months of life [48]. Conversely, in a group of older infants and children with constipation (ages 3 months to 12 years), the prevalence of abnormal API was 47 percent in females and 35 percent in males.

Cystic fibrosis — Cystic fibrosis is the most common fatal, autosomal recessive disease among White populations. In the United States and many other resource-rich countries, most cases are now detected by newborn screening of asymptomatic infants. If symptoms are present in a neonate, they are usually caused by meconium ileus, which generally presents during the first three days of life with abdominal distension and failure to pass meconium, with or without vomiting. (See "Cystic fibrosis: Clinical manifestations and diagnosis".)

Other symptoms of cystic fibrosis that develop during infancy or childhood include persistent pulmonary infection and pancreatic insufficiency. However, many patients demonstrate mild or atypical symptoms, including constipation, and clinicians should remain alert to the possibility of cystic fibrosis even when only a few of the usual features are present. Children and adults with cystic fibrosis are prone to develop constipation and also episodes of small bowel obstruction known as "distal ileal obstructive syndrome." (See "Cystic fibrosis: Overview of gastrointestinal disease".)

Celiac disease — Although celiac disease classically presents with diarrhea, it also may be associated with constipation. Celiac disease is common in most populations and may present with minimal symptoms. (See "Epidemiology, pathogenesis, and clinical manifestations of celiac disease in children".)

Internal anal sphincter achalasia — Internal anal sphincter (IAS) achalasia is a condition that presents with constipation starting in early infancy and can sometimes mimic symptoms of Hirschsprung disease. In both IAS achalasia and Hirschsprung disease, anorectal manometry demonstrates the absence of the rectosphincteric reflex on rectal balloon inflation. The disorders can be distinguished by rectal suction biopsy, which reveals ganglion cells in IAS achalasia but not in Hirschsprung disease.

The clinical presentation of IAS achalasia is similar to functional constipation. Patients typically do not respond to optimal and persistent medical and behavioral regimen, prompting further workup with anorectal manometry.

Recommended treatments for IAS achalasia include internal anal sphincter botulinum toxin injection or posterior internal anal sphincter myectomy. Both of these treatments are effective in 60 to 80 percent of patients. In a meta-analysis of studies comparing these treatments for IAS achalasia, patients undergoing myectomy reported more frequent bowel movements, and there were no significant differences in long-term laxative use between the two treatment modalities [49]. Interestingly, short term fecal incontinence was more common with botulinum toxin injection compared with myectomy. Thus, myectomy appears to be more effective than botulinum toxin for some patients.

Dyssynergic defecation — Dyssynergic defecation is a functional disorder characterized by the incomplete evacuation of fecal material from the rectum due to paradoxical contraction or failure to relax pelvic floor muscles when straining to defecate, as seen on anorectal manometry. It is thought to be a learned dysfunction. (See "Constipation in infants and children: Evaluation", section on 'Anorectal manometry'.)

Dyssynergic defecation sometimes responds to biofeedback therapy, which teaches patients how to relax pelvic floor muscles when defecating by converting measurements of anal pressure or electromyographic activity into a simple visual and/or auditory signal. Because biofeedback requires serial learning sessions with an anal probe and exercises, it is only practical for use in highly motivated older children and adolescents. External probes with adherent electrodes attached to the skin of the abdomen and pelvic floor have been developed; these devices may make the biofeedback training easier and more successful for children [50]. (See "Etiology and evaluation of chronic constipation in adults", section on 'Dyssynergic defecation' and "Management of chronic constipation in adults", section on 'Biofeedback'.)

Other causes

Infantile botulism – Botulism is a rare but potentially life-threatening neuroparalytic syndrome resulting from the action of a neurotoxin elaborated by the spore-forming microorganism Clostridium botulinum. Infantile botulism is the most frequent form of the disease, with a mean of 71 cases annually in the United States and a mortality rate up to 5 percent. Honey has been directly linked to infant botulism. Corn syrup, although implicated, has never been directly linked with botulism. (See "Botulism".)

Disease presentation and severity are quite variable in infant botulism, most likely as a result of size of the bacterial inoculum and host susceptibility. The initial presentation may simply involve constipation shortly followed by weakness, feeding difficulties, descending or global hypotonia, drooling, anorexia, irritability, and weak cry. The autonomic nervous system is usually affected first with findings of dry mucous membranes, blood pressure instability, and arrhythmias, as well as fecal and urinary retention. This is generally followed by descending motor weakness beginning with the cranial nerves, followed by trunk and then limb involvement. (See "Botulism".)

Lead poisoning – The clinical manifestations of lead poisoning vary depending upon the lead level and the age of the exposed individual. Lead colic, which includes sporadic vomiting, intermittent abdominal pain, and constipation, is more likely to occur in individuals with moderate or severe lead exposure (eg, levels >60 microgram/dL [2.90 micromol/L]). (See "Childhood lead poisoning: Clinical manifestations and diagnosis".)

Hypothyroidism – Constipation may be seen in children with congenital or acquired hypothyroidism. Symptoms and signs that may be present in the neonatal period include lethargy, slow movement, hoarse cry, feeding problems, constipation, macroglossia, umbilical hernia, large fontanels, hypotonia, dry skin, hypothermia, and prolonged jaundice. A few newborn infants with thyroid dyshormonogenesis have a palpable goiter, but this finding usually appears later. More than 95 percent of newborn infants with congenital hypothyroidism have few, if any, clinical manifestations of hypothyroidism at birth because some thyroxine (T4) crosses the placenta. The most common manifestation of hypothyroidism in children with acquired hypothyroidism is short stature. (See "Clinical features and detection of congenital hypothyroidism" and "Acquired hypothyroidism in childhood and adolescence" and "Diagnostic approach to children and adolescents with short stature" and "Clinical manifestations of hypothyroidism".)

Chronic intestinal pseudo-obstruction – Chronic intestinal pseudo-obstruction is a rare congenital or acquired condition caused by various types of gastrointestinal neuropathic and myopathic disorders that result in obstructive intestinal symptoms without any mechanical obstruction. Presenting symptoms depend upon the area of the gastrointestinal tract that is affected and may include nausea, vomiting, abdominal pain, constipation, and/or other manifestations, especially abdominal distension due to dilated loops of hypomotile bowel [51-53]. The primary forms are mostly congenital; secondary disorders are uncommon in children. Normal antroduodenal and colonic manometry rules out chronic intestinal pseudo-obstruction [54]. Colonic transit time is typically very prolonged (in one study of patients with pseudo-obstruction, all patients had a colonic transit time >96 hours) [51]. (See "Chronic intestinal pseudo-obstruction: Etiology, clinical manifestations, and diagnosis".)

Neurologic disorders – Children with neurologic impairments, particularly cerebral palsy and spinal dysraphism, often have problems related to defecation. Constipation is found in the majority of children with cerebral palsy, resulting from intestinal hypotonia and motor paralysis [6,52,55]. Children with severe neurologic deficits often are fed through gastrostomy tubes with formulas containing inadequate fiber, further contributing to constipation. (See "Cerebral palsy: Classification and clinical features" and "Myelomeningocele (spina bifida): Management and outcome", section on 'Bowel management'.)

Extremely low birth weight – Extremely low birth weight infants with neurodevelopmental impairment appear to be at increased risk of constipation when they reach school age. This was illustrated by a report in which one-third of children who had birth weight less than 750 g had constipation lasting at least until adolescence [56]. These patients had significantly higher rates of neurosensory impairment and lower mean intelligence quotient (IQ) scores on the Wechsler Intelligence Scale for Children III (WISC III) compared with birth weight-matched controls without constipation. They also appeared to have significantly higher rates of associated toileting problems, including fecal incontinence and stool withholding.

Multiple endocrine neoplasia type 2 – Constipation may be one of a number of gastrointestinal symptoms appearing very early in life in patients with multiple endocrine neoplasia type 2 (MEN2) syndromes [57,58]. (See "Clinical manifestations and diagnosis of multiple endocrine neoplasia type 2".)

MEN type 2A (MEN2A) is characterized by medullary thyroid cancer, pheochromocytoma, and primary parathyroid hyperplasia. Patients may have associated Hirschsprung disease or cutaneous lichen amyloidosis.

MEN type 2B (MEN2B) is characterized by medullary thyroid cancer and pheochromocytoma but not hyperparathyroidism. Patients may present with numerous additional findings including mucosal neuromas (lips and tongue), intestinal ganglioneuromas, and skeletal deformations (kyphoscoliosis or lordosis, decreased upper/lower body ratio, Marfanoid habitus). Chronic constipation and megacolon are common [57,58], and other gastrointestinal symptoms may include abdominal pain or distention, dysphagia, vomiting, and diarrhea.

Delays in the diagnosis of both types of MEN2 are common because the characteristic neoplasms typically present later than the gastrointestinal symptoms or associated Hirschsprung disease [57,58]. Timely diagnosis in an infant or young child is often triggered by a family history of MEN (or related neoplasms) and/or the finding of Hirschsprung disease in the infant (raising the possibility of MEN2A). (See "Clinical manifestations and diagnosis of multiple endocrine neoplasia type 2", section on 'Genetic screening'.)

Intestinal neuronal dysplasia – Intestinal neuronal dysplasia is a pattern of histologic abnormalities in rectal suction biopsies among infants or older children with chronic constipation. The clinical significance of the finding is unclear and remains controversial [59]. Features include hyperganglionosis, in which the ganglia are giant or ectopic, with increased acetylcholinesterase staining [59,60]. Similar changes may also be seen proximal to the aganglionic segment in Hirschsprung disease. There is some controversy whether this histologic appearance represents a developmental abnormality of the intestinal submucosal and myenteric parasympathetic nervous system, a consequence of chronic constipation, or simply a variant of normal intestinal development [61]. The diagnosis is further complicated by considerable interobserver variation in interpreting the histologic findings.

One study examined long-term outcomes in 105 patients presenting with constipation and histologic abnormalities consistent with intestinal neuronal dysplasia type B, and who were managed conservatively with diet, laxatives, and sometimes anal dilatations [60]. Most of the patients presented during the first year of life. Ninety-four percent of patients had normal or near-normal defecation at 5 to 10 years of follow-up, suggesting gradual improvement over time.

SOCIETY GUIDELINE LINKS — Links to society and government-sponsored guidelines from selected countries and regions around the world are provided separately. (See "Society guideline links: Constipation".)

SUMMARY AND RECOMMENDATIONS

Pathogenesis – Functional constipation accounts for most of the clinical constipation in children after the neonatal period. It can often be traced to a painful, frightening, or otherwise distressing experience associated with defecation that the child wants to avoid repeating. That unhappy experience may prompt the child to try to avoid repeating it, inadvertently leading to stool-withholding behaviors that promote constipation (table 3). (See 'Contributing factors' above.)

Diagnostic criteria – Functional constipation is defined by the presence of at least two of six criteria describing stool frequency, hardness, and size; fecal incontinence; or volitional stool retention (table 4). The symptoms must be present for one month in infants and toddlers and two months in older children. The diagnosis also requires exclusion of organic causes of the symptoms. (See 'Diagnosis' above.)

Fecal incontinence – Fecal incontinence (encopresis) is usually a consequence of underlying constipation. Much less commonly, fecal incontinence may occur in the absence of constipation, in which case it is termed "nonretentive" fecal incontinence. (See 'Associated symptoms' above and "Functional fecal incontinence in infants and children: Definition, clinical manifestations, and evaluation".)

Differential diagnosis – The differential diagnosis of functional constipation includes:

Infant dyschezia, which refers to the symptoms of straining and crying before successful passage of soft stool in an otherwise healthy infant younger than six months of age, which should be distinguished from other causes of straining (table 5). Reassurance of the parents or caregivers is appropriate; rectal stimulation may be counterproductive, and laxatives are generally unnecessary. (See 'Infant dyschezia' above.)

Organic causes, which are responsible for fewer than 5 percent of children with constipation (table 6). These disorders usually can be distinguished from functional constipation by clinical features in the history or on physical examination (table 7). (See 'Differential diagnosis' above and "Constipation in infants and children: Evaluation".)

-Hirschsprung disease is an important consideration in newborns and young infants presenting with constipation. Signs and symptoms suggestive of Hirschsprung disease include delayed passage of meconium (after 48 hours of life), failure to thrive or delayed growth, vomiting, abdominal distension, a tight anal canal with an empty ampulla, or an explosive expulsion of stool after the digital examination (squirt sign). (See 'Hirschsprung disease' above and "Congenital aganglionic megacolon (Hirschsprung disease)".)

-Cow's milk may cause constipation in infants and young children, although the mechanism for this association is unclear. The diagnosis is suggested by onset of symptoms that coincide with an increase in cow's milk in the diet and is generally confirmed and treated by substitution of soy or hydrolyzed protein in the formula. (See 'Cow's milk intolerance' above.)

-Celiac disease occasionally presents with constipation and few other symptoms and is common in most populations. (See 'Celiac disease' above.)

ACKNOWLEDGMENT — The UpToDate editorial staff acknowledges George D Ferry, MD, who contributed to an earlier version of this topic review.

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References