Gastrointestinal motility disorders in the pediatric population are common and can range from benign processes to more serious disorders. Performing and interpreting motility evaluations in children present unique challenges. There are primary motility disorders but abnormal motility may be secondary due to other disease processes. Diagnostic studies include radiographic scintigraphic and manometry studies. Although recent advances in the genetics, biology, and technical aspects are having an important impact and have allowed for a better understanding of the pathophysiology and therapy for gastrointestinal motility disorders in children, further research is needed to be done to have better understanding of the pathophysiology and for better therapies.
Key points
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Motility disorders in children represent an important problem.
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Anatomic, mucosal, and systemic diseases need to be excluded before a motility disorder is considered.
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New advances, like high-resolution manometry (HRM), are providing new insights into the pathophysiology of motor disorders.
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New approaches to treatment have evolved based on the pathophysiology of motor disorders.
Introduction
One of the main functions of the gastrointestinal (GI) tract is to allow for the ingestion of nutrients, their transport through different specialized areas of the GI tract to allow digestion and absorption, and the expulsion of unused portions at times when it is socially acceptable. Each area of the GI tract has a specific motility pattern that allows it to perform its necessary function and is the result of a complex interaction between the muscles, the myenteric plexus, the peripheral nervous system, and the brain. Diseases that affect this movement through the GI tract are known as motility disorders, which are the main focus of this article. The general approach to a child with a suspected motility disorder and clinical presentation, evaluation, and treatment of primary motility disorders in children are addressed.
Introduction
One of the main functions of the gastrointestinal (GI) tract is to allow for the ingestion of nutrients, their transport through different specialized areas of the GI tract to allow digestion and absorption, and the expulsion of unused portions at times when it is socially acceptable. Each area of the GI tract has a specific motility pattern that allows it to perform its necessary function and is the result of a complex interaction between the muscles, the myenteric plexus, the peripheral nervous system, and the brain. Diseases that affect this movement through the GI tract are known as motility disorders, which are the main focus of this article. The general approach to a child with a suspected motility disorder and clinical presentation, evaluation, and treatment of primary motility disorders in children are addressed.
Evaluation of the pediatric patient with a suspected motility disorder
Pediatric gastrointestinal (GI) motility disorders are common. Box 1 shows the main motility disorders. As seen, motility disorders can be a result of diseases that affect primarily the muscles and innervation of the GI tract (achalasia, gastroparesis [GP], pseudo-obstruction, and Hirschsprung disease [HD]), congenital malformations that are accompanied by alterations in motility function (tracheoesophageal fistula, gastroschisis, and so forth), common pediatric diseases that have motility disturbances as part of their pathophysiology (gastroesophageal reflux disease and constipation) or non-GI processes that affect the GI motility secondarily (systemic diseases, iatrogenic problems, drugs, and so forth).
Primary
Affect the intrinsic/extrinsic innervation of the GI tract
Achalasia
GP
Pseudo-obstruction
Common disorders in which there is underlying motility dysfunction
Gastroesophageal reflux
Constipation
Malformations that affect the motility of the GI tract
Tracheoesophageal fistula
Anorectal malformations
Congenital malformations (diaphragmatic hernia, omphalocele, gastroschisis)
Other
Secondary
Systemic diseases
Neuromuscular diseases
Scleroderma, neurologic problems
Metabolic/endocrine diseases
Thyroid problems, mitochondrial disease
Medications
Iatrogenic
Surgery
Given that motility disorders can affect so many different areas, their presentations vary according to the area of the GI tract that is affected ( Box 2 ). Therefore, the signs and symptoms are characteristic to the area that is affected but are not specific and can result from nonmotility problems. Therefore, when symptoms suggest that there may be a GI motility disorder, careful exclusion of anatomic, mucosal, or metabolic disorders should be undertaken before a motility disorder is diagnosed or specific motility studies are initiated ( Box 3 ).
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Esophagus
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Dysphagia, odynophagia, oropharyngeal dysphagia, regurgitation/vomiting, chest pain, aspiration, respiratory problems, retching, gagging, weight loss
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Stomach
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Early satiety, abdominal distention, vomiting, pain, dyspepsia, nausea, inability to tolerate food, retching, weight loss
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Small bowel
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Abdominal distention/bloating, pain, vomiting, inability to tolerate food, diarrhea, nausea, bacterial overgrowth, weight loss
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Colon/anorectum
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Abdominal distention, constipation, incontinence, pain
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Exclude anatomic obstruction
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Physical examination
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Imaging studies
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Plain radiographs
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Contrast studies. Detection of most upper or lower GI malformations, complications of disease processes or after surgery
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CT/MRI. In patients with known pseudo-obstruction who have had previous surgery, who present with obstructive symptoms, particularly if the symptoms differ from the usual presentation of the patient, CT is indicated to look for the presence of transition points, or other complications.
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Endoscopy
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Look for an etiology
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Extraintestinal
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Gallbladder, pancreas
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Renal
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Central nervous system
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Mucosal
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Celiac disease, eosinophilic esophagitis
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Metabolic/endocrine
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Electrolyte problems
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Thyroid dysfunction
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Systemic diseases
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Connective tissue
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Musculoskeletal problems
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Mitochondrial disease
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Cystic fibrosis
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Drugs
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Anticholinergic effects
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Opiates
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Psychological problems
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Evaluate transit
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Radiograph with radiopaque markers. Defecation problems
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Nuclear medicine. Mostly used for GE, where a 4-hour test is now the gold standard. Also used for esophageal transit and can be used for colonic transit.
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Impedance
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Esophagus
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Breath testing. Use to evaluate GE: 13 C octanoic acid 13 C-Spirulina
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Wireless motility capsule. Gastric, intestinal, and colonic transit
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Motility testing
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Manometry testing. Esophageal manometry, antroduodenal manometry, colonic manometry, and ARM
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Wireless motility capsule, not validated yet
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Exclude Anatomic Problems
Excluding an anatomic cause is the most important first step after a careful history and physical examination (see Box 3 ). For areas that cannot be examined with a physical examination, the most effective way to exclude anatomic problems is with the use of radiographic and/or endoscopic studies. Often the opacification of the GI tract with the use of contrast is necessary and can suggest the presence of a motility disorder (bird’s beak in achalasia or transition zone in HD), an obstructive lesion, or a complication from the disease (strictures or necrotizing enterocolitis) or surgery. More advanced imaging like CT scan or MRI is often used to detect other processes, malformations, or, in particular, the presence of adhesions or postoperative complications.
Look for an Underlying Disease Process
A thorough work-up needs to be completed to exclude processes that may have an indirect impact on the motor function (see Box 3 ). Before embarking on an extensive motility evaluation, attempts to correct the underlying problem should be done first, because the treatment of the underlying condition may result in normalization of the motility problem (eg, hypothyroidism).
Transit Studies
Transit studies provide objective data that show how movement may be altered throughout the different segments of the GI tract and may indicate fast, slow, or normal transit measurements that have clinical implications as the treatment varies accordingly.
Box 3 shows the different available techniques that include radiopaque markers, scintigraphic evaluation, breath testing, impedance, or the wireless motility capsule that allows the determination of total body transit, gastric, small bowel, and colonic transit. Witeless motility capsule use for the evaluation of motility patterns has not been validated ( Fig. 1 ).
Manometry Studies
Manometric studies are used to directly evaluate the contractile patterns of the different segments of the GI tract and allow the definition of the underlying pathophysiology by demonstrating if the alteration is in the muscle strength or the nerve regulation. GI manometry provides direct evidence about the contractile events of the organ that is studied. Each digestive organ has a characteristic motility pattern that has evolved to provide the most efficient motor function ( Figs. 2–7 ).
The role of manometric evaluation in children has been more clearly defined for anorectal manometry (ARM), esophageal manometry, antroduodenal manometry, and colonic manometry ( Box 4 ). GI manometry has evolved during the past years and has changed from a research technique to a useful diagnostic tool. The performance of motility studies in the pediatric population has certain important characteristics that make this more challenging, including technical aspects related to catheter size as well as developmental abnormalities and cooperation.
Esophageal manometry
Esophageal dysfunction that is not explained by anatomic or well-defined problems
Dysphagia, odynophagia
Diagnosis of achalasia and other primary esophageal motor disorders
Support the diagnosis of connective tissue diseases, or other systemic illness.
Evaluation of patients with achalasia post-treatment and recurrent symptoms
Noncardiac chest pain
Patients with gastroesophageal reflux, where the diagnosis is not clear (to exclude primary motility disorders)
Before a fundoplication when a severe motility disorder is suspected
Localize lower esophageal sphincter before pH probe placement in patients with abnormal anatomy (like hiatal hernia).
Anorectal manometry
Diagnose a nonrelaxing internal anal sphincter.
Diagnose pelvic floor dyssynergia.
Evaluate postoperative patients with HD who have obstructive symptoms and for the effect of botulinum toxin.
Evaluate patients with fecal incontinence.
Evaluate postoperative patients after imperforate anus repair.
Decide if patient is a candidate for biofeedback therapy.
Antroduodenal manometry
Establish the presence of pseudo-obstruction. It has been shown extremely useful when the study demonstrates normal motility in patients unable to tolerate enteral feedings.
Classify pseudo-obstruction into myopathic or neuropathic forms.
Exclude a motility problem as the basis of a patient’s symptoms. Showing normal findings in children with apparent intestinal failure
Evaluation of unexplained nausea and vomiting
Distinguish between rumination and vomiting
Exclude generalized motility dysfunction in patients with dysmotility elsewhere, for example, before colectomy.
It is indicated in patients with pseudo-obstruction considered for intestinal transplantation.
May be useful to predict outcome after feeding or after drug use in patients with pseudo-obstruction
May suggest unexpected obstruction
Colonic motility
Evaluation of selected patients with intractable constipation, because it can be helpful to differentiate functional fecal retention from colonic pseudo-obstruction.
Evaluation of children with pseudo-obstruction to establish presence of colonic involvement and to characterize the relationship between motor activity and persistent symptoms.
Establish the pathophysiology of persistent symptoms in selected children with HD, imperforate anus, and other colorectal problems.
Assess colonic motor activity prior to intestinal transplant.
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