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Constipation in infants and children: Evaluation

Constipation in infants and children: Evaluation
Literature review current through: Jan 2024.
This topic last updated: Nov 27, 2023.

INTRODUCTION — Symptoms suggesting constipation in infants and children include infrequent bowel evacuation; hard, small feces; difficult or painful evacuation of large-diameter stools; and fecal incontinence (voluntary or involuntary evacuation of feces into the underwear, also known as encopresis) [1,2]. Most, but not all, children with fecal incontinence have underlying constipation.

Constipation affects up to 30 percent of children and accounts for an estimated 3 to 5 percent of all visits to pediatricians [3,4]. The peak prevalence is during the preschool years in most reports. 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 [5]. Although it is common, it is important to evaluate affected children to identify the few that have organic causes of constipation. Moreover, children with functional constipation will benefit from prompt and thorough treatment interventions.

The evaluation of an infant or child with constipation will be reviewed here. Related information is available in the following topic reviews:

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

(See "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis".)

(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".)

NORMAL STOOLING PATTERNS — Constipation often includes difficulty or reduced frequency in defecation. Because of changes with growth and development, the frequency and type of stools must be compared with normal patterns expected for the child's age, diet, and stage of maturation, as summarized in a meta-analysis [6]:

Infants

In the full-term newborn infant, the first bowel movement usually occurs within 36 hours of birth but may happen later in infants who are born prematurely; 90 percent of normal newborns pass meconium within the first 24 hours of life.

During the first week of life, infants pass a mean of four stools per day, although this is variable depending upon whether infants are breastfed or receiving formula. Breastfed infants may have as few as one stool daily during the first few days of life, then the frequency usually increases as mother's milk production increases.

During the first three months of life, the frequency of bowel movements is influenced by the mode of feeding and type of formula [6-8]:

-Breastfed infants pass a mean of three stools per day (mean 23.2 stools/week, 95% CI 8.8-38.1) [6].

-Formula-fed infants pass a mean of two stools per day (mean 13.7 stools/week, 95% CI 5.4-23.9) [6], but there is variation between formulas. Some soy formulas tend to produce harder and less frequent stools compared with milk-based formulas, while hydrolyzed casein formulas produce looser and more frequent stools.

Toddlers – By two years of age, the mean number of bowel movements falls to between one and two stools per day (mean 10.9 stools/week, 95% CI 5.7-16.7) [6].

Children – After four years of age, the mean number of bowel movements is slightly more than one per day.

The gradual decrease in bowel movement frequency with advancing age correlates with changes in transit time and varying patterns of colonic motility. The mean total gastrointestinal transit time is 8.5 hours at 1 to 3 months of age, 16 hours at 4 to 24 months, 26 hours at 3 to 13 years of age, and 30 to 48 hours after puberty [9].

CAUSES OF CONSTIPATION

Functional 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 during the preschool years. 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 1). The diagnosis also requires exclusion of organic causes of the symptoms.

Organic causes — Organic causes are responsible for less than 5 percent of children with constipation but are more common among young infants. The main causes are listed in the table for infants (table 2) or older children (table 3) and are described in more detail in a separate topic review. (See "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis", section on 'Differential diagnosis'.)

EVALUATION — The goal of the evaluation for a child with chronic constipation is to distinguish functional from organic causes. The evaluation relies primarily on a focused history and physical examination; further testing is performed if the initial evaluation raises concern for an organic cause of constipation. This evaluation also may help to identify dietary or behavioral factors that may contribute to functional constipation and may be targets for treatment. (See "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis", section on 'Contributing factors'.)

History — The history should focus on features that suggest functional constipation (table 4) and also assess for features that raise concern for some rare but serious organic causes of the symptom (table 3). The history should be obtained from the parents or caretakers and also from the child, if this is appropriate for his or her age. The partnership established with the family should continue until the constipation is resolved to ensure that symptoms do not progress and become more problematic [10].

Alarm symptoms and signs — Alarm signs from the history that suggest the possibility of organic causes include (table 5) [11,12]:

Acute symptoms and signs

Delayed passage of meconium (first meconium passed after 48 hours of life) (table 6)

Fever, vomiting, or diarrhea in a young infant, especially if there is a history of constipation or risk factors for Hirschsprung disease (eg, Down syndrome)

Rectal bleeding (unless attributable to an anal fissure)

Severe abdominal distension

Chronic symptoms and signs

Constipation present from birth or early infancy

"Ribbon" stools (very narrow in diameter)

Urinary incontinence or bladder disease

Weight loss or poor weight gain

Delayed growth (eg, decreasing height percentiles)

Extraintestinal symptoms (especially neurologic deficits)

Physical findings suggesting possible anorectal disorder (eg, anteriorly displaced anus or sacral spine anomalies) (see "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis", section on 'Anorectal anomalies' and "Closed spinal dysraphism: Clinical manifestations, diagnosis, and management", section on 'Clinical manifestations')

Congenital anomalies or syndromes associated with Hirschsprung disease (eg, genitourinary anomalies, Down syndrome) (see "Congenital aganglionic megacolon (Hirschsprung disease)", section on 'Pathophysiology')

Family history of Hirschsprung disease

Young infants — In an infant, apparent straining during defecation does not necessarily indicate constipation. If accompanied by the passage of soft stools in an otherwise healthy infant, this symptom is known as "infant dyschezia." (See "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis", section on 'Infant dyschezia'.)

Organic causes of constipation should be considered if the straining behavior is accompanied by hard stools or if warning signs are present. The most important organic causes of constipation in infants are Hirschsprung disease and cystic fibrosis. In particular, a history of delayed passage of meconium should raise concerns about the possibility of Hirschsprung disease since more than 90 percent of normal newborns but only 10 percent of infants with Hirschsprung disease pass meconium within the first 24 hours of life. (See "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis", section on 'Differential diagnosis'.)

Psychosocial and environmental factors — When functional constipation is suspected, particular attention should be given to psychosocial or environmental factors that may have influenced the child's bowel activities. If feasible, the caregivers should prepare a five- to seven-day symptom and dietary history [13], taking care to record stool frequency and appearance and any pain involved.

The history should seek to determine the point at which the constipation was first noted and any potential relationship with an event or factors that may have triggered the constipation. These factors include a history of painful evacuation, difficulties with toilet training, stool withholding, psychosocial stressors, and changes in diet. For some individuals, introduction of or increase in cow's milk appears to be a dietary trigger [14]. Other dietary factors that may contribute to constipation include low fiber content (few fruits or vegetables) and low fluid intake, although these associations are weak. (See "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis", section on 'Contributing factors'.)

Findings supporting a functional etiology include:

Onset of constipation coincides with dietary change, toilet training, painful bowel movement, or psychosocial stressor

Stool-withholding behavior (table 7)

Good response to conventional laxatives

In addition to the alarm signs noted above (see 'Alarm symptoms and signs' above), the history should screen for the following factors that may suggest an occult organic cause:

Risk for lead poisoning – Review risk factors for lead poisoning and whether lead screening has been performed. Risk factors include pica, developmental disability, family history of lead poisoning in a sibling, or living in housing built before 1950 or housing that recently has been renovated. (See "Screening tests in children and adolescents", section on 'Lead risk assessment'.)

Developmental history – Developmental delay is a risk factor for lead poisoning and also may be associated with other causes of constipation, including hypothyroidism and some mitochondrial or neurologic disorders associated with altered gastrointestinal motility. (See "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis", section on 'Differential diagnosis'.)

Medical history – Review the patient's history for known disorders that may be associated with constipation, including hypothyroidism, celiac disease, and some neuromuscular disorders. (See "Acquired hypothyroidism in childhood and adolescence" and "Clinical features and detection of congenital hypothyroidism" and "Epidemiology, pathogenesis, and clinical manifestations of celiac disease in children".)

Constipation and bladder dysfunction — Anorectal and lower urinary tract function are interrelated. As a result, constipation is often associated with bladder dysfunction, including bladder overactivity (urge), increased or decreased voiding frequency, and bladder underactivity that can lead to an increased risk of urinary tract infection [15,16]. This relationship between abnormal bowel and bladder function is referred to as the bowel bladder dysfunction, also known as dysfunctional elimination syndrome. Although bladder dysfunction is commonly associated with functional constipation, neurogenic disorders must also be excluded. Successful treatment of the constipation is an important component of treating the bladder dysfunction [17]. (See "Etiology and clinical features of bladder dysfunction in children", section on 'Bowel and bladder dysfunction'.)

Physical examination — The physical examination should include an evaluation of the perianal area, including the appearance and location of the anus, and sensory and motor function. A digital rectal examination is included for selected cases (table 4 and table 5) [12]:

External examination

General – The general physical examination should include assessment of growth, abdominal distension, and abdominal or pelvic masses. It should specifically evaluate for features of spinal dysraphism, which has clinical manifestations ranging from benign or asymptomatic to severe neurologic, genitourinary, gastrointestinal, or musculoskeletal anomalies. Occult spinal dysraphism is suggested by increased pigmentation, vascular nevi, or hair tufts in the sacrococcygeal area. (See "Closed spinal dysraphism: Clinical manifestations, diagnosis, and management".)

Neurologic – The neurologic evaluation of children with chronic constipation should focus on symptoms and signs suggesting spinal cord and/or autonomic nervous system dysfunction, including:

Sensory loss or motor weakness

A patulous anus

An absent cremasteric reflex

Associated bladder dysfunction

Abnormal muscle tone and/or deep tendon reflexes:

-Patients with truncal hypotonia (eg, those with Down syndrome) may develop constipation because they do not efficiently generate abdominal pressure for defecation; this is a form of dyssynergic defecation.

-Patients with generalized lower motor neuron dysfunction, suggested by hyporeflexia and hypotonia, develop constipation because of slow intestinal transit, and the problem may be complicated by fecal incontinence due to decreased anal sphincter tone.

-In patients with upper motor neuron dysfunction, suggested by hypertonia and hyperreflexia, constipation is caused by overactive pelvic muscle contraction and inability to voluntarily relax the external anal sphincter.

-Abnormal deep tendon reflexes (delayed relaxation) are also seen in hypothyroidism, a rare cause of constipation in children.

(See "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis", section on 'Differential diagnosis'.)

Perineum – The perineum should be inspected for abnormalities of anorectal development, which represent a spectrum from high imperforate anus to anteriorly displaced anus (figure 1) [18]. When the communication is abnormally close to the fourchette or scrotum, the anus is considered "anteriorly displaced" or "ectopic." An anteriorly displaced anus is easily overlooked. The abnormality 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 diagnosis is supported by measuring the anal position index, which is defined as the ratio of the anus-fourchette/scrotum distance to the coccyx-fourchette/scrotum distance. Measurements are most easily made by placing a strip of clear tape on the longitudinal axis of the perineum, marking the positions of the coccyx, anus, and fourchette/scrotum, then removing the tape for measurement against a standard ruler. Normal ratios are discussed elsewhere. (See "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis", section on 'Anorectal anomalies'.)

Digital anorectal examination — A digital anorectal examination is not routinely necessary for the evaluation of patients with a typical history and symptoms of functional constipation. This is because the digital anorectal examination is unpleasant for the child and has only moderate sensitivity and specificity for detecting or confirming constipation in this group of patients [12]. However, some providers perform a digital examination in selected cases of suspected functional constipation. The goals of the examination are to detect a fecal impaction, which would require a "cleanout" approach (initiation of treatment with high doses of laxatives and/or enemas), and to detect occult blood, which would require further diagnostic testing.

A digital examination is suggested for the following groups of patients [12]:

Infants with constipation

Children with symptoms since early infancy

Infants or children with other alarm signs that suggest organic disease (table 5)

Children in whom the presence or degree of constipation is unclear (eg, meeting only one Rome IV criterion) (table 1)

Findings suggestive of Hirschsprung disease include a tight anal canal with an empty ampulla. There may be an explosive release of gas and stool after the digital rectal examination (squirt sign or blast sign), which may relieve the obstruction temporarily. In addition, infants with Hirschsprung disease often have gross distention of the abdomen and failure to thrive. (See "Congenital aganglionic megacolon (Hirschsprung disease)" and "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis", section on 'Hirschsprung disease'.)

Findings suggestive of functional constipation are a distended rectum that is full of stool. However, lack of stool does not exclude the possibility of functional constipation.

Testing of the stool for occult blood (guaiac testing, eg, Hemoccult) should be performed in most cases if stool is available from the digital rectal examination or diaper. This is particularly important in infants with constipation, in whom subclinical milk protein intolerance (or other food protein intolerance) may present as constipation (see "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis", section on 'Cow's milk intolerance'). In infants and children with marked abdominal distension or who are ill-appearing, stools with visible or occult blood may indicate enterocolitis and the patient requires urgent further evaluation. (See "Emergency complications of Hirschsprung disease", section on 'Enterocolitis' and "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis", section on 'Hirschsprung disease'.)

Adjunctive testing for selected patients — In most cases, organic causes of constipation can be excluded on the basis of a careful history and physical examination. If warning signs of possible organic constipation are present, focused laboratory and radiographic testing should be performed. In addition, these tests may be appropriate for patients who fail to respond to a well-conceived and carefully administered intervention program, including disimpaction, frequent and effective use of laxatives, and behavioral management. (See "Chronic functional constipation and fecal incontinence in infants, children, and adolescents: Treatment".)

Imaging

Abdominal radiograph – A plain abdominal radiograph is not indicated for the routine evaluation of functional constipation [12]. Abdominal radiographs are inconsistently interpreted by different observers, are not particularly specific for constipation, and rarely add to the diagnosis if the rectal examination reveals a large amount of retained stool [12,19,20]. Moreover, radiographs obtained in an emergency department setting may cause providers to prematurely exclude other important causes of presenting symptoms [21]. Thus, they are not an essential part of the evaluation of constipation and should not be used as a substitute for a thorough history and physical examination. However, in selected cases, radiography can be helpful to document retained stool when there is inadequate relevant historical information or if the physical examination is limited by patient cooperation or obesity or is deferred for psychological considerations.

Contrast enema – A contrast enema provides supportive evidence for Hirschsprung disease and should be performed in children with features suggestive of this disorder, such as early-onset constipation from the neonatal period, especially with delayed passage of meconium, or suggestive findings on anorectal examination. The study should be performed "unprepped," ie, without measures to remove stool from the rectum (image 1A-B). Instead of a barium enema, some clinicians proceed directly to rectal biopsy or use anorectal manometry as the initial investigation.

Of note, a contrast enema can be falsely negative in some patients with Hirschsprung disease, especially young infants. If the suspicion for Hirschsprung disease is high, a complete evaluation should be performed, typically including a rectal biopsy. (See "Congenital aganglionic megacolon (Hirschsprung disease)" and "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis", section on 'Hirschsprung disease'.)

Spine radiographs – Plain films of the lumbosacral spine should be performed for children with evidence of spinal dysraphism or neurologic impairment of the perianal area or lower extremities. If there is a high suspicion of neurologic dysfunction, magnetic resonance imaging should be considered to investigate the possibility of tethered cord and spinal cord tumors [12,22,23]. (See "Closed spinal dysraphism: Clinical manifestations, diagnosis, and management".)

Laboratory tests — We suggest laboratory testing at the time of the initial evaluation in patients with signs or symptoms suggestive of an organic cause of constipation, such as the following clinical situations:

Celiac screening – For children with failure to thrive or recurrent abdominal pain, perform a complete blood count and serologic screening for celiac disease (usually immunoglobulin A [IgA] antibodies to tissue transglutaminase). The symptoms of celiac disease may be subtle. Therefore, we have a low threshold for performing celiac screening in children with constipation despite limited information about its clinical utility in this population. (See "Epidemiology, pathogenesis, and clinical manifestations of celiac disease in children" and "Diagnosis of celiac disease in children".)

Urine analysis and culture – For children with a history of rectosigmoid impaction, especially in association with encopresis [24-26], perform a urine analysis and urine culture. This is because fecal impaction may predispose to urinary tract infections due to the mechanical effects of the distended rectum compressing the bladder.

Thyroid-stimulating hormone (TSH) – For children with impaired linear growth and depressed reflexes or those with a history of central nervous system disease, we suggest screening for hypothyroidism. A height velocity less than 5 cm/year (1.6 inches/year) suggests the possibility of growth failure in prepubertal children. If central hypothyroidism is suspected, the screen should include measurement of free thyroxine (T4) as well as TSH. (See "Acquired hypothyroidism in childhood and adolescence".)

Electrolytes and calcium – For children at risk for electrolyte disturbances (eg, those with metabolic abnormalities or inability to tolerate adequate fluids), we suggest measuring serum concentrations of electrolytes and calcium.

Blood lead level – Screening for lead toxicity should be performed in children with risk factors. Screening recommendations vary by community. Children at particular risk include those with pica, developmental disability, family history of lead poisoning in a sibling, or living in housing built before 1950 or housing that recently has been renovated. (See "Childhood lead poisoning: Clinical manifestations and diagnosis" and "Screening tests in children and adolescents", section on 'Lead poisoning'.)

This list is not exhaustive, and specific laboratory testing may be considered in any patient with an atypical presentation.

PROVISIONAL DIAGNOSIS

Organic constipation — The diagnostic process outlined above will identify most cases of organic constipation. Rigorous evaluation for organic causes is particularly important for young infants and for infants and children presenting with atypical features or "alarm signs" (table 5). (See 'Alarm symptoms and signs' above.)

The main causes are listed in the table for infants (table 2) or older children (table 3). (See "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis", section on 'Differential diagnosis'.)

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

Functional constipation — 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 1). 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 "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis", section on 'Diagnosis'.)

If functional constipation is provisionally diagnosed, the next step is to initiate treatment as appropriate to the patient's age and chronicity of constipation. In clinical practice, it is useful to distinguish between patients with relatively recent-onset constipation and those with longer duration of symptoms or relapsing disease course. This categorization helps to predict the necessary intensity and duration of treatment:

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 a 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".)

Patients who do not respond to treatment should be further evaluated to determine adherence to therapy and psychosocial and behavioral contributors (see "Chronic functional constipation and fecal incontinence in infants, children, and adolescents: Treatment", section on 'Treatment failure'). Repeated failure despite adequate compliance requires reconsideration of the diagnosis and the possibility of motility testing, as outlined below.

MOTILITY TESTING FOR PATIENTS WITH FUNCTIONAL CONSTIPATION REFRACTORY TO TREATMENT — Motility testing is typically considered in patients who have no obvious organic cause of constipation and who fail to respond to vigorous treatment of functional constipation. In our own experience, motility testing is particularly useful for older children (>6 years) with chronic constipation that has not improved despite optimized medical and behavioral therapy for at least 12 months. (See "Chronic functional constipation and fecal incontinence in infants, children, and adolescents: Treatment", section on 'Treatment failure'.)

Radiopaque marker studies

Indications – A radiopaque marker study (also known as an oro-anal transit or colon transit study) is not helpful for the routine evaluation of a child with constipation, because the results rarely alter management [12]. This study is generally reserved for the secondary evaluation of selected patients in whom the diagnosis is unclear despite a thorough initial evaluation and trials of treatment. In particular, it may be useful for the following purposes [27]:

To help distinguish between retentive fecal incontinence (constipation-associated) and nonretentive fecal incontinence [12].

To identify children with abnormally slow movement of food residue through the colon, a condition referred to as "slow-transit" constipation. Slow-transit constipation is more likely in children with onset of symptoms before three years of age, severe symptoms (passing less than one stool a week), and lack of response to optimal standard therapy with laxatives and behavioral intervention.

To identify children with stool expulsion disorders, suggesting outlet obstruction.

Technique – Radiopaque marker studies can be performed using a variety of protocols [28,29]. One of the easiest techniques is to have the child swallow a capsule containing 24 radiopaque markers (Sitzmark capsules) once a day for three days. Plain radiographs are taken on the fourth day (and sometimes also on the seventh day) and analyzed for the number and location of retained markers [29]. Ideally, any fecal impaction should be relieved and laxatives should be discontinued several days prior to performing the study.

The colonic transit time (CTT) can then be calculated with the following formula:

For the day 4 films:

Colonic transit time (hours) = # markers remaining × 1.0

(Where 1.0 = 72 hours/72 markers ingested)

For the day 7 films:

Colonic transit time (hours) = # markers remaining × 2.3

(Where 2.3 = 168 hours/72 markers ingested)

If capsules containing 20 (rather than 24) radiopaque markers are used, the constant 1.2 is used for the day 4 calculation and 2.8 for the day 7 calculation. If the capsules containing radiopaque markers are not available, segments of number 10 radiopaque nasogastric tube cut into 1 cm lengths can be used as markers and the constant adjusted according to the number of markers ingested. Transit time also may be analyzed by colonic segment, using similar calculations.

Interpretation – Children with functional constipation tend to have slower CTT than those without constipation. In one study of adolescents, CTT was 58.3 hours for those with constipation and 30.2 hours for those without constipation [29].

The term "slow-transit constipation" is used to describe particularly severe delays in CTT (>100 hours) [30]. 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. A few children with slow-transit constipation have disorders associated with colonic dysmotility, which include intestinal neuronal dysplasia and intestinal neuronal dysplasia type B. We suggest early referral to a gastroenterologist for patients with this profile. (See "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis", section on 'Slow-transit constipation' and "Chronic functional constipation and fecal incontinence in infants, children, and adolescents: Treatment", section on 'Treatment failure'.)

A radiopaque marker study also may help to identify patients with outlet obstruction, manifested by accumulation of markers in the rectosigmoid area. Patients with outlet obstruction may require a biopsy to evaluate for Hirschsprung disease or other neuromuscular disorders [9]. However, this pattern also may be seen in patients with fecal impaction and in those with abnormal responses of the pelvic floor muscles during defecation. (See "Etiology and evaluation of chronic constipation in adults", section on 'Defecation disorder' and "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis", section on 'Differential diagnosis'.)

Anorectal manometry — Anorectal manometry involves placement of a catheter containing pressure-transducing sensors into the rectum, thereby permitting measurement of neuromuscular function of the anorectum. The procedure includes measurements of the rectoanal inhibitory reflex (which is absent in Hirschsprung disease), rectal sensation and compliance, and squeeze pressures. The test is performed mainly in children with intractable constipation that restricts their lifestyle, those suspicious of having internal anal sphincter achalasia, or those with Hirschsprung disease [9,24,31-33]. Anorectal manometry also can identify patients with dyssynergic defecation, which 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. The chances of artifact due to catheter movement (which can mimic rectoanal inhibitory response) are higher in children less than six months of age. Definitive diagnosis of Hirschsprung disease is made by rectal biopsy. (See "Congenital aganglionic megacolon (Hirschsprung disease)" and "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis", section on 'Differential diagnosis'.)

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".)

INFORMATION FOR PATIENTS — UpToDate offers two types of patient education materials, "The Basics" and "Beyond the Basics." The Basics patient education pieces are written in plain language, at the 5th to 6th grade reading level, and they answer the four or five key questions a patient might have about a given condition. These articles are best for patients who want a general overview and who prefer short, easy-to-read materials. Beyond the Basics patient education pieces are longer, more sophisticated, and more detailed. These articles are written at the 10th to 12th grade reading level and are best for patients who want in-depth information and are comfortable with some medical jargon.

Here are the patient education articles that are relevant to this topic. We encourage you to print or e-mail these topics to your patients. (You can also locate patient education articles on a variety of subjects by searching on "patient info" and the keyword(s) of interest.)

Basics topics (see "Patient education: Constipation in children (The Basics)" and "Patient education: Hirschsprung disease (The Basics)")

Beyond the Basics topic (see "Patient education: Constipation in infants and children (Beyond the Basics)")

SUMMARY AND RECOMMENDATIONS

Definition – Constipation is generally understood as difficulty or reduced frequency in defecation. Because of changes with growth and development, the frequency and type of stools must be interpreted in the context of the child's age, diet, and stage of maturation. (See 'Normal stooling patterns' above.)

Goal of evaluation – The goal of the evaluation for a child with chronic constipation is to distinguish functional from organic causes. The evaluation also may help to identify dietary or behavioral factors that may contribute to the problem and may be targets for treatment. (See 'Causes of constipation' above and 'Evaluation' above.)

Functional constipation – Functional constipation is responsible for more than 95 percent of cases of constipation in healthy children one year and older.

Functional constipation usually can be diagnosed based upon the history and physical examination. Key elements of the history and physical examination are outlined in the table (table 4). (See 'History' above.)

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 1). 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 'Provisional diagnosis' above.)

Organic causes – Organic causes of constipation are more likely in patients with alarm signs (table 5) or other elements of the history and physical examination that raise suspicion (table 4). Organic causes are responsible for less than 5 percent of children with constipation (table 3) but are more common among young infants (table 2). (See 'Alarm symptoms and signs' above.)

Important diagnoses to consider in infants include:

Hirschsprung disease – 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). Hirschsprung disease should be particularly considered for infants presenting with constipation during the neonatal period. Other causes of constipation or delayed passage of meconium in the early neonatal period are listed in the table (table 6). (See "Congenital aganglionic megacolon (Hirschsprung disease)".)

Cow's milk intolerance – Cow's milk may cause constipation in infants and young children. 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 'Psychosocial and environmental factors' above and "Functional constipation in infants, children, and adolescents: Clinical features and diagnosis", section on 'Cow's milk intolerance'.)

Further evaluation – Laboratory and radiographic testing should be selectively performed based upon the history and physical examination.

Laboratory tests – For the majority of children whose presentation is typical of functional constipation, laboratory testing is pursued only if the patient fails to respond to a well-conceived and carefully administered intervention program, including disimpaction, frequent and effective use of laxatives, and behavioral management. In contrast, laboratory testing should be performed early in patients with signs or symptoms suggestive of an organic cause of constipation. This may include screening tests for celiac disease (in any patient with abdominal pain or slow growth), lead poisoning, hypothyroidism, or urinary tract infection. (See 'Laboratory tests' above.)

Motility testing – Motility testing (radiopaque marker study, anorectal manometry, and/or colon manometry) is typically considered in patients who have no obvious organic cause of constipation and who fail to respond to vigorous treatment of functional constipation. (See 'Motility testing for patients with functional constipation refractory to treatment' above.)

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

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Topic 5906 Version 47.0

References

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