| Disclaimer: This book was created after the 1998 Family Conference. The articles are important to all of those involved with RTS. This is online without permission from Dr. Rubinstein and the Cincinnatti Rubinstein-Taybi organization. They would prefer that you call Dr. Rubinstein at 1-800-344-2462 ext. 4621 and request a copy of the book. I would encourage everyone, especially those with a child who has RTS to call the above number and request a copy of this book. I have been reassured by Mark Shannon that this book will be sent to anyone who requests it, regardless of country. All the information from the book is not online (another reason to call and request the book). Left out are articles which are copyrighted or are not appropriate for the web site (includes list of attendees). All articles which are deemed “public domain” are included.. Diane Wardlow |
| Constipation in Children |
| Colin D. Rudolph, M.D., Ph.D. Children’s Center for Motility Disorders Children’s Hospital Medical Center Cincinnati, Ohio 45229 |
| Constipation is the chief complaint in 3% of all general pediatric outpatient visits. Up to 25% of children referred to pediatric gastroenterologists have a disorder of defecation. It is defined on the basis of the frequenty of defecation (< 3 stools/week); size of stool; consistency of stool or discomfort/pain in passage of bowel movements. Fecal soiling is the unintentional passage of small amounts of stool. Incontinence is the passage of bowel movemens without awareness or the inability to prevent passage of a bowel movement.Epidermiology: 16% of parents with children 22 months old report constipation in their children (Issenmann et al). Male to female ratio is 1:1. In older children, constipation is more frequent in young boys than young girls (3:1 ratio) but after puberty constipation is about 3 times more frequent in females than males. The incidence increases when a parent, a sibling or a twin is constipated. Constipation in both twins is four times more likely in monozygotic than in dizygotic twins, suggesting a genetic predisposition. Gottlieb and Schuster describe an increased incidence of severe constipation before age 10 years in families with open arches on one mor more digits. In adult population studies; fewer years of education, lower family income and abnormal scores on psychomtric tets correlates with self-reported constipation, but fiber or liquid intake does not. Soiling or encopresis occurs in about 3% of 4 y.o.’s and 1.5% of 10 y.o.’s.Classification of constipation: Various schema are available in the adult literature which utilize measures of segmental transit to classify constipation as normal transit time, delayed colonic transit, delayed rectal and colonsic transit, or delayed rectal transit. Radio-opaque marker studies or scintigraphic studies can be used to make similar measurements in children but are only useful in the most refractory patiens. In most children, it is most useful to classify constipation as being “non-organic” vs. “organic”.One needs to remember that constipation is a symptom. It is not a disease, nor a sign and may be caused by many different disorders (see Table I).Normal PhysiologyThe colon receives approximately 1.5 liters of fluid each day but the normal fluid volume of stool is about 100 ml. The ascending and transverse colon serves as a site for storage and fluid and electrolyte absorption. The descending and sigmoid colon functions as a conduit. Feces empty rapidly from the cecum and ascending colon and are retained for several hours in the transverse colon. The descending colon propels material into the rectum, which it is stored prior to defecation. Following the ingesiton of a meal, and after awakening, high amplitude contractions propagate from the proximal to distal sidmoid colon, pushing the stool mass into the rectum. Normal transit from the cecum to the rectum, occurs over 24 to 100 hours in adults following ingestion of a marker.Normal defecation is controlled by the pelvic complex, a funnel consisting of two overlapping sphincters surrounding the anus: an internal spincter composed of involuntary smooth muscle and an external sphincter composed of voluntary skeletal muscle that mains continence (Fig. 1). When the rectum is empty, the internal spincter muscle is contracted tonically and the external spincter is relaxed. When stool is propelled into the rectum, stretch receptors in the walls are stimulated. These receptors active nerve cells in the intramural plexus. In turn, inhibitory interneurons decrease the activity of the muscles of the internal anal sphincter, causing it to relax. Following internal spincter relaxation, stool contacts the very sensitive anoderm lining the external anal canal. This leads to the urge to defecate. If convenient, toileting proceeds by assuming a squatting position, which straightens the anal canal, and then a Valsalva maneuver is performed which increases intraabdominal pressure, and defecation proceeds, evacuating the rectum. Alternatively, the external anal spincter and gluteal muscles can be contracted voluntarily, ejecting the fecal mass out of the rectal ampulla back into the rectal vault. The urge to defecate subsides until the rectum again becomes distended. |
| Figure 1 |
| Table 1: Causes of Constipation in Children |
| Non-organic Developmental Cognitive handicaps Attention deficit disorder Situational Coercive toilet training Toilet phobia School bathroom avoidance Excessive parental interventions Sexual abuse Depression Organic Constitutional Colonic inertia Genetic predisposition Reduced stool volume & dryness Low Fiber Dehydration Underfeeding/Malnutrition Anatomic malformations Imperforate anus (VATER’s?) Anal stenosis Anterior displaced anus Pelvic mass (e.g. sacral teratoma) Metabolic Hypothyroidism Hypercalcemia Hypokalemia Cystic fibrosis Diabetes mellitus Hypermagnesemia Adrenal insufficiency | Organic (cont) Neuropathic conditions Spina bifida/Myelomeningocele Familial dysautonomia Spinal cord trauma von Recklinghausen disease Static encephalopathy Intestinal Nerve or muscle disease Hirschsprung disease Intestinal Neuronal Dysplasia (MEA 2b?) Visceral myopathies Visceral neuropathies Abnormal abdominal musculature Prune Belly Gastroschisis Down syndrome Connective tissue disorders Scleroderma Systemic lupus erythematosus Amyloidosis Drugs Opiates Sucralfate Antacids Antihypertensives Anticholinergics Tricyclic antidepressants Sympathomimetics Other Heavy metal ingestion Vitamin D intoxication Botulism |
| From: DiLorenzo C, Approach to the Child with Constipation in Rudolph’s PEDIATRICS, 20th edition, 1995. |
| Table 2: Comparison of Functional Fecal Retention and Hirschsprung Disease. |
| SymptomFunctional Fecal RetentionHirschsprung Disease Delayed meconium passageRarely60%Constipation as newbornRarelyalmost alwaysOnset after age 2 yearsCommonSometimesFecal incontinenceCommonalmost neverDifficult bowel trainingCommonRareAvoidance of toiletCommonRareWithholding behaviorCommonRareStool in rectal ampullaCommonRareObstructive symptomsRareCommon |
| Evaluation of the Infant or Child with Constipation |
| Only a minority of children have organic or anatomic causes for constipation. Usually these are easily recognized after a good history and physical examination. The interval between passage of bowel movements, size (use of common objects for comparison is useful- pencil, cigar, hot dog, bratwurst, etc) and consistency (watery, clay-like, pellet-like, rock hard) should be determined The association of pain and defecation should be explored, as should the possibility of sexual abuse. A careful history to uncover characteristic behaviors and a physical examination consistent with functional fecal retention often display retentive posturing, either hiding in a corner, crossing their legs and straining or moving around on tiptoes with stiff legs or sitting with the heels pressed against the perineum in an attempt to avoid defecation.Some breast fed infants stool as infrequently as every 5 to 10 days. In the absence of vomiting, abdominal distention or other gastrointestinal symptoms, these children do not require any treatment. The frequency of bowel movements usually increases when milk formulas or solid foods are added to the diet. Some older children, pass large stools at intervals of 3 or 4 days. They do not develop stool retention, do not have soiling and have no other symptoms. They will continue to have infrequent defecation throughout their life without any distress.Infants between one and ten weeks old often strain and cry for several minutes prior to the passage of normal stools. After defecation, the baby is comfortable again. This classical history is most likely explained by the infant being unable to increase intra-abdominal pressure and relax the pelvic floor muscles in a coordinated fashion, as is require to allow the easy passage of stools. Learning this process occurs faster in some newborns than in others, but always in the first few months of life. The use of enemas or suppositories is not indicated for this problem. Manipulation of the anus may be painful or frightening to a child, further discouraging defecation and delaying the learning process for normal defecation. Repetitive manipulations of the anal area may teach the infant that external intervention is required to pass stools.In the majority of children with constipation the cause is a functional or behavioral problem. Functional fecal retention, also called encopresis, is discussed in detail in the following section. In contrast to the high incidence of constipation in he pediatric population (3 to 15 per 100), the incidence of Hirschsprung disease is only 1 in 6,000 births and Hirschsprung disease is found in fewer than 1% of children with constipation. The incidence of anorectal malformations is 1 in 5,000. Other organic causes of constipation in children are even less common. Certain historical features shown in Table 2 are useful to discriminate those children with possible Hirschsprung disease from other children with encopresis (functional fecal retention).The physical examination should include a careful examination of the thyroid gland, palpitation of the abdomen (a fecal mass is frequently palpable), and general neurologic exam. Directed examination should include careful evaluation of the position of the anus (anterior location?), examination for hints of sacral dysraphism (pigmented or hairy patch over the lumbosacral spine), and a careful examination of sacral ermatome senation (light touch with cotton wisp) and reflexes (cremasteric and anospincteric reflexes) should be performed. Digital rectal examination is essential to determine if their is anal stenjosis, a mass or a fecal impaction. In patients with painful defecation, examination should focus on causes such as dermatitis, anal fissure or a patulous anus (suggestive of sexual abuse).Simple Constipation:Constipation without soiling may be due to early withholding behavior, inadequate fiber in the diet, or may be due to any of the other causes listed in Table 1. correction of underlying disorders causing constipation by increasing hydration, discontinuing drugs associated with constipation, etc. is often adequate. In most patients, no clear contributing cause can be identified. If a patient responds to symptomatic therapy with improved fiber intake and administration of laxatives further evaluation is generally not indicated. Diet therapy and laxative choices are outlined below.Diet: In infants, introduction of prune juice, fruits and cereals may relieve constipation. Increasing dietary fiber is the most important primary treatment in most children and adolescents. The colonic flora contains bacterial cellulase converting fiber to water and short chain fatty acids which produces an osmotic catharsis. Minimal dietary intake of fiber for children 3 years of age should be equivalent to at least age plus 5 g/day to age 20 yrs (based on Williams et al). As long as the change to a higher fiber intake is gradual, and plenty of liquids are served there is little risk of bloating, flatus or other complications at these levels of intake. Use of commercial fiber supplements is usually not necessary and is expensive, however in selected patients these supplements are useful.Laxatives (dosing guidelines) Maltsupex:: In the breast fed infant, 5-10 ml in 2-4 oz of water or fruit juice BID In bottle fed infant, 7.5-20 ml/day Karo syrup: Dose same as Maltsupex, risk of botulism is theoretical but not well established. Milk of Magnesia (MgOH): 1-3 ml/kg/day divided qd or BID to adult dose of 60 ml (4 TBSP) qd. OR: chewable tablet (1 tablet-3/4 tsp of liquid) Mineral Oil: 1-4 ml/kg/d qd or BID (do not use in children at risk for aspiration due to risk of lipoid pneumonia). Lactulose or Sorbitol (10g/15ml): 1-2 ml/kg/day qd or BID Senna extract (Sennocot) 1 mo-2 yr: 1-2.5 ml qd; 3-5 yrs: 2.5-5 ml qd or 1/4-1/2 tsp granules; 5-10 yrs: 1/2 tsp granules or 1 tab qhs; adult: 1 tsp or 2 tabsFunctional Fecal Rention (Encopresis)Functional fecal retention is by far the most common non-organic cause of constipation. It appears to result from the voluntary withholding of stool due to fear of defecation. The accumulated fecal mass becomes dry and hard, creating an impaction. As stools accumulate, mood and appetitie deteriorate and the child experiences abdominal pain with abdominal distention. Soiling may occur, especially during passage of flatus, due to the child’s inability to control the overflow of stools. This loss of control over defecation confuses the child and often angers the parents who believe the child is intentionally soiling their underwear. With increasing duration of this problem, the child develops an increasingly negative self image.A recent study by Partin et al found that 63% of children who encopresis had a history of painful defecation before the age of 36 months. It is possible that this leads to the fear of defecation and a learned behavior of fecal withholding. Problems with withholding behavior are usually observed near the time of toilet training or when a child begins to attend a school. Past experience with the passage of hard stools, an anal fissure, or perianal infection may lead to withholding, however a history of painful defecation is not always easily obtained. Occasionally, toddlers fear sitting on the toilet for reasons unrelated to stooling such as a fear of serpents being in the toilet bowel. In the older child, school games, television and social life can all detract from the “call to stool”. Children accustomed to defecation at home during the morning may decide on entering school to withhold defecation until they are back in the comfort of their own home.Treatment of functional fecal retention begins with the process of education of the child and family. It is important to stress that ht problem evolved over years and that there is no “magic bullet” solution. A simple description of the theoretical causes of initial withholding behavior and further explanation that fecal withholding is learned early in life normal defecation will be difficult to relean (like changing the accent with which we speak a language or the way we throw a ball) is provided. the parents and child are told that the child is not consciously attempting to withhold stool and that soiling usually occurs without the knowledge of the child. An explanation of the reduction in rectal sensation due to chronic distention is provided. The parents and child are told that it will require from 3 to 6 months for the rectum to regain normal tone, size and sensitivity to distention. Usually, the parents and child have experienced substantial frustration, often with the child being severely punished, prior to this problem being brought to medical attention. Therefore, the first visit should focus on beginning a “fresh start” and engaging the child and parents in the therapeutic process.Following education, the child undergoes disimpaction with several possible regimens. Non-enema regimens using large doses of mineral oil (1 oz per year of age up to 8 oz/dose given BID for 3 days) or PEG balanced electrolyte “clean-outs” are often effective. If the large has a large impaction, one or two enemas (Hypertonic phosphate enema – 1 oz/kg in young children and 4.5 oz for children over 20kg or hyperosmolar milk and molasses enemeas (3 oz milk: 3 oz molasses) will cleanse the rectum. For severe cases, an impatient admission with the administration of multiple enemas and large volumes of PEG solutions may be necessary.Following disimpaction, the major aim is to alter behavior and prevent reaccumulation of stools. The child is started on a laxative regimen (see dosing for “simple constipation” above) to maintain soft bowel movements. The dosage is adjusted to ensure that the child has one to two loose bowel movements per day. In the toddler, further attempts at toilet training are avoided until normal defecation patterns are achieved. In the older child, laxative therapy is combined with a systematic behavior modification program. The mechanics of normal defecation are explained and modeled for the child. The child is instructed to sit on the toilet for 5-10 min after each meal (to take advantage of the gastrocolonic reflex), attempting to relax the perianal muscles while performing a Valsalva maneuver. The bathroom time must be private and unhurried. When sitting on the toilet the child should press the feet firmly against the floor or a foot stool to facilitate defecation. The child needs to understand that responding to the defecatory urge and not holding back is the key for the success of the treatment. The child keeps records of bowel movement, fecal soiling and medication use. Small, age appropriate reward systems are established for successful compliance. Over the months of follow-up, the rewarded behavior goal approaches normal defecation patterns an the laxative dose is reduced. Many patients require laxative therapy for more than 12 months. clayden et al evaluated the duration of laxative treatment in more than 300 British patients and showed that 22% required laxative for <6 months, 44%<12 months and 56%>6 months. Stopping laxatives too early is commonly associated with relapse. Vacation, travel or other changes in routine may also be associated with relapse.Biofeedback may be useful in a selected group of patients. The major role of biofeedback is to teach normal defecation dynamics to children who have rectospincteric dysnergia. These children contract the anal spincter during simulated efforts to defecate. Biofeedback may also be useful to educate children about the sensations experienced with rectal distention. Some children are unaware that this sensation, which they describe as abdominal pain, indicates the need to defecate.Not all children with fecal soiling have functional fecal retention. Some children present with a history of passage of part of, or an entire stool in the underclothes. The soiling tends to be sporadic, not the almost continuous seepage typical of retentive soiling. There is no history of passage of big, hard stools or cyclical pattern of retentive symptoms. The soiling seems to be impulsive rather than premeditated. In almost every case the soiling is one of many irritating, difficult behaviors exhibited by a child who is locked in a struggle with parents over many aspect of daily living. Cathartics only make a difficult symptom worse. Non retentive, functional soiling is usually a behavioral manifestation of emotional disturbance. It requires psychological evaluation and treatment.Neurologic Disease:Constipation is neurologically devastated children may result from several factors. In tube fed children the use of formulas without fiber may be constipating. The absence of normal skeletal muscle tone and abnormal coordination may result in a poor defectory effort. There may be sensory or motor abnormalities due to affected enteric neurons, just as there are abnormalities in the central nervous system disease include the introduction of dietary fiber, daily administration of stool softeners, and enemas.In children with spinal cord injury or dysraphism, the external anal sphincter and levator ani muscles are typically dysfunctional. both motor and sensory function of the colon and rectum may be effected. Fecal continence is found only in 11% to 30% of children with myelomeningocele. Biofeedback training has been helpful in patients who have preservation of some sensorimotor functions in the perianal region and who understand and cooperate in the process of training. High fiber diets combined with a program of regular digital stimulation, suppositories or enemas usually achieves acceptable control of soiling.Severe, Idiopathic Constipation:In children without an underlying etiology for constipation and with debilitating symptoms it is important to more aggressively rule out a natomic obstruction with a barium enema. Manometric studies of colon function may provide an explanation for symptoms. If surgery is being considered (ileostomy, partial colectomy, ileoanal pull through), it is useful to rule out a more extensive gastrointestinal motility disorder which portends poor outcome after surgery. Trials of therapy with a PEG-balanced electrolyte solution, aggressive use of laxatives, bisacodyl, cisapride and other prokinetic agents may be indicated.Rubinstein-Taybi syndromeThere is no good study of constipation in children with Rubinstein Taybi syndrome. Constipation is more common in many children with developmental delay. Most reviews of Rubinstein-Tyabi syndrome note a tendency towards problems of constipation. Management is similar to management of other children with constipation as outlined above. Aggressive use of laxatives may be important ot maintain soft stools during early life which will avoid withholding behaviors later. This is not a higher incidence of anatomic abnormalities causing constipation or Hirschsprung disease reported in children with Rubinstien-Taybi syndrome.References:Agnarsson U, Warde C, McCarthy G, Evans N. Perianal appearances associated with constipation. Arch Dis Child 1990; 65: 1231-4. Anderson, F. Occult spinal dysraphism: a series of 73 cases. Pediatrics, 1975; 55: 826-35. Clayden GS. Management of chronic constipation. Arch Dis Child 1992; 340-344 Devroede G. Constipation. In: Gastrointestinal disease: pathophysiology, diagnosis, management. Ed: Sleisinger M, Fortrand JS, Saunders Co, Philadelphia, PA, 1989: 331-61. Gleghorn EE, Heyman MB, Rudolph CD. No-enema therapy for idopathic constipation and encopresis. Clin Pediatr 1991; 30: 669-72. Gottlieb SH, Schuster MM. Dermatoglyphic (fingerprint) evidence for a congenital syndrome of early onset constipation and abdominal pain. Gastroenterology 1986; 91: 428-432. Hyman PE, Fleisher D. Functional fecal retention. Practical Gastroenterology, 1992; 16: 29-37 Issenmann RM, Hewson S, Pirhonen D, Taylor W. Are chronic digestive complains the result of abnormal dietary patterns? Arch Dis Child 1986; 141:679-682 Loening-Baucke, V, Chronic constipation in children. 1993; 105:1557-1564 Leoening-Baucke VA, Younoszai MK. Abnormal anal sphincer response n chronically constipated children. J Pediatr 1982; 100: 213-8 Lowery SP, Srour JW, Whitehead WE, Schuster MM. Habit training as treatment of encopresis secondary to chronic constipation. J Pediatr Gastroenterol Nutr 1985; 4: 397-401. Nolan T, Debelle G, Oberklaid, Coffey C. Randomized trial of laxatives in treatment of childhood encopresis. Lancet 1991; 33: 523-7 Partin JC, Hamill SK, Fischel JE, Partin JS. Painful defecation and fecal soiling in children. Pediatrics 1992; 89: 1007-9. Rudolph CD, Benaroch LM (1995) Hirschsprung Disease. Pediatr Review 16: 5-11 Younoszai MK. Stooling problems in patients with myelomeningocele. South Med J 1992; 85: 718-23. |
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