Gastrointestinal manifestations seen in pediatric patients diagnosed with small fiber neuropathy.

OBJECTIVES: Small fiber neuropathy (SFN) affects the fibers involved in cutaneous and visceral pain and temperature sensation and are a crucial part of the autonomic nervous system. Autonomic dysfunction secondary to SFN and autoimmune receptor antibodies is being increasingly recognized, and gastrointestinal (GI) manifestations include constipation, early satiety, nausea, vomiting, and diarrhea. Enteric nervous system involvement may be a possible explanation of abnormal GI motility patterns seen in these patients. METHODS: Children suspected to have SFN based on symptoms underwent skin biopsy at the Child Neurology clinic at Arnold Palmer Hospital for Children, which was processed at Therapath™ Neuropathology. SFN was diagnosed using epidermal nerve fiber density values that were below 5th percentile from the left distal leg (calf) as reported per Therapath™ laboratory. RESULTS: Twenty-six patients were diagnosed with SFN. Retrospective chart review was performed, including demographic data, clinical characteristics, and evaluation. A majority of patients were white adolescent females. Autonomic dysfunction, including orthostasis and temperature dysregulation were seen in 61.5% of patients (p = 0.124). Somatosensory symptoms, including pain or numbness were seen in 85% of patients (p < 0.001). GI symptoms were present in 85% of patients (p < 0.001) with constipation being the most common symptom seen in 50% of patients. This correlated with the motility testing results. CONCLUSIONS: Pediatric patients with SFN commonly have GI symptoms, which may be the main presenting symptom. It is important to recognize and look for symptoms of small fiber neuropathy in children with refractory GI symptoms that may explain multisystemic complaints often seen in these patients.

Effect of Caffeine on Colonic Manometry in Children.

OBJECTIVES: Coffee and caffeinated products have been widely consumed for many centuries. Previous adult studies have suggested that both coffee and decaffeinated beverages induce colonic motility. However, no study has been conducted in pediatrics, and the role of caffeine alone in pediatric colonic motility needs to be explored. METHODS: A prospective study of pediatric patients undergoing standard colonic motility testing that were able to consume caffeinated coffee, decaffeinated coffee, and caffeine tablet during colonic manometry. Patients who had a gastrocolonic reflex and high amplitude propagated contractions (HAPCs) in response to intraluminal administration of bisacodyl in the colon were included in the final analyses. RESULTS: Thirty-eight patients were recruited, 22 of which were excluded, 11 due to abnormal studies (no HAPC seen in response to intraluminal response to bisacodyl), and 11 due to inability to consume all study agents or complete the study. Sixteen patients met criteria for final analyses. Intracolonic bisacodyl produced a larger area under the curve (AUC) compared to all other agents. Caffeinated coffee resulted in a higher AUC, motility index (MI), and time to HAPC compared with decaffeinated coffee ( P < 0.05). There was no significant difference between caffeinated coffee and caffeine tablet, or caffeine tablet and decaffeinated coffee. CONCLUSIONS: Caffeine is indeed a colonic stimulant; however, other components of caffeinated and non-caffeinated beverages likely induce colonic response and require further evaluation for possible use as a colonic stimulant.

Development of a Bowel Management Scoring Tool in Pediatric Patients with Constipation.

OBJECTIVE: To develop a reliable and valid scoring tool, the Pediatric Bowel Management Scoring Tool (PBMST), to better guide management of constipation in pediatric patients. STUDY DESIGN: The project comprised 2 stages, development of the questionnaire and construction of the bowel management score. Two questionnaires were created, one for children aged 8-18 years to self-report and one parent proxy-report for children aged 4-8 years. Questions regarding physical symptoms (n = 6), emotional aspects (n = 2), social activities/school (n = 1), and treatment (n = 1) were included. Patients (or parents of patients) with symptoms of constipation completed the questionnaire. The reproducibility of each question was computed using the Cohen weighted kappa coefficient (κ). A bowel management score was developed using logistic regression analysis, assessing the associations between the questions and impact on self-reported quality of life (QoL). Questions with adequate reproducibility and significantly associated with QoL were incorporated into the score. RESULTS: The questionnaire was completed by 385 patients. Six questions met the inclusion criteria and were incorporated into the score: stool shape (range, 0-3 points), anorectal pain (0-4 points), abdominal pain (0-3 points), frequency of fecal incontinence (0-3 points), assistance of caregivers (0-3 points), and interference with social activities (0-6 points). Differences in bowel management scores among patients reporting no, little, some, or major impact on QoL were statistically significant (P < .001). CONCLUSIONS: The newly developed and validated PBMST is a reliable tool for evaluating bowel management strategies in children with constipation.

Prospective Evaluation of Transanal Irrigation With a Validated Pediatric Neurogenic Bowel Dysfunction Scoring System.

OBJECTIVES: To evaluate the efficacy of transanal irrigation (TAI) in pediatric patients with neurogenic bowel dysfunction (NBD) who were treatment naïve to catheter-based TAI using Peristeen device (Coloplast). METHODS: Prospective recruitment of patients with NBD who were unsatisfied with their bowel regimen or had no bowel regimen in place, were assessed using the neurogenic bowel dysfunction score (NBDS) before initiating treatment (Time 0) with Peristeen. NBDS scores were reassessed twice: within the first 6 months (Time 1) of initiation of Peristeen and again after greater than 6 months of usage with Peristeen (Time 2). RESULTS: Over a 26-month period, 104 patients with NBD were enrolled. Mean age was 10.6 years ± 4.7 (range 3-18 years). The NBDS at Time 1 had an average reduction of 14 points from the original score. A similar trajectory was seen at Time 2, with an average reduction of 13 points from original score. There was a statistically significant decrease of 14 points, P < 0.001 at Time 1 and this response was sustained at Time 2 with a statistically significant decrease in scores from initiation by 13 points, P < 0.001. Improved patient satisfaction and quality of life with Peristeen was seen at Time 1 and Time 2. CONCLUSION: Our results suggest that Peristeen can improve quality of life in pediatric patients with NBD. Significant improvement in NBDS occurred in our pediatric patients with NBD when initiated on Peristeen. Lower scores were seen at both Time 1 and Time 2, which indicated an improvement in their overall NBD.

Neurogenic Bowel Dysfunction in Children and Adolescents.

Neurogenic/neuropathic bowel dysfunction (NBD) is common in children who are affected by congenital and acquired neurological disease, and negatively impacts quality of life. In the past, NBD received less attention than neurogenic bladder, generally being considered only in spina bifida (the most common cause of pediatric NBD). Many methods of conservative and medical management of NBD are reported, including relatively recently Transanal Irrigation (TAI). Based on the literature and personal experience, an expert group (pediatric urologists/surgeons/gastroenterologists with specific experience in NBD) focused on NBD in children and adolescents. A statement document was created using a modified Delphi method. The range of causes of pediatric NBD are discussed in this paper. The various therapeutic approaches are presented to improve clinical management. The population of children and adolescents with NBD is increasing, due both to the higher survival rate and better diagnosis. While NBD is relatively predictable in producing either constipation or fecal incontinence, or both, its various effects on each patient will depend on a wide range of underlying causes and accompanying comorbidities. For this reason, management of NBD should be tailored individually with a combined multidisciplinary therapy appropriate for the status of the affected child and caregivers.

Impact of Transanal Irrigation Device in the Management of Children With Fecal Incontinence and Constipation.

OBJECTIVES: Children with fecal incontinence and constipation can be classified into 3 groups: neurogenic bowel dysfunction (NBD) related to spinal cord defects (NBD), refractory constipation (RC), or anorectal malformations (ARMs). The transanal irrigation (TAI) device (Peristeen) was approved in 2012 by the Food and Drug Administration. This system uses a pump rather than gravity to instill water as a colonic irrigant and uses balloon occlusion of the rectum. Our aim was to evaluate the effectiveness of TAI (Peristeen) in children who failed to respond to conservative measures for stool incontinence and constipation. METHODS: Retrospective study of 147 patients prescribed TAI between January 2014 and January 2020. Data collected included demographics, prior bowel regimen, symptoms before and after, patient satisfaction scores, and NBD scores. RESULTS: Of the 147 patients initiated, 114 remain active users (13 lost to follow-up and 20 discontinued use). Multiple bowel regimens including laxatives (n = 139), cone enema (n = 40), and cecostomy (n = 7) were tried previously. The majority of our patients (n = 85) have NBD, primarily spina bifida, followed by RC (n = 43), and ARM (n = 19). For all patient groups, there was significant improvement in symptoms of fecal incontinence and constipation (P ≤ 0.001). Abdominal pain was improved in the NBD and RC group, but not significantly in the ARM group. CONCLUSIONS: We provide a single-center review of a large pediatric cohort using TAI (Peristeen) for management of fecal incontinence and constipation. Peristeen offered significant improvement in patients with NBD, RC, and ARM.

FGIDs in children are associated with many nonpsychiatric comorbidities: the tip of an iceberg?

Functional gastrointestinal disorders (FGIDs) are common. The poor health-related quality of life in FGIDs is a combination of gastrointestinal symptoms and comorbid conditions. We determined by using the Ohio Dysautonomia questionnaire the medical comorbidities in 38 children with FGID. Almost all of the subjects had a comorbid disorder, with orthostatic symptoms in 89%, fainted >3×/lifetime in 17%, headaches with migrainous features in 40%, other types of chronic pain in 50%, and fatigue lasting >6 months in approximately 33%. These findings constitute a critical first step in changing the paradigm of our approach to FGID as a broader systemic disorder, not one limited to the gastrointestinal tract.

Gastric electrical activity becomes abnormal in the upright position in patients with postural tachycardia syndrome.

OBJECTIVES: Some patients with functional abdominal pain report worsening of symptoms in the upright position. Many of these have a postural tachycardia syndrome (POTS). We investigated whether the electrical activity of the stomach changes during the upright portion of a tilt table test in patients with and without POTS. PATIENTS AND METHODS: All of the children undergoing autonomic testing were offered enrollment in this institutional review board-approved prospective study between October 2007 and January 2009. Electrogastrography was recorded 10 minutes in the supine position and during the entire upright portion of tilt. Children were divided into 2 groups: POTS and No-POTS. Findings were correlated with this grouping using Fisher exact test and either Student t test or Wilcoxon rank sum test as appropriate. RESULTS: Forty-nine patients participated (35 girls), with a mean age of 14.7 + 3.5 years, 25 with POTS and 24 without. The POTS and No-POTS groups did not differ in baseline normal gastric activity. The change from supine to standing showed a significant difference in the electrogastrographic tracing between the POTS and No-POTS groups (P < 0.04-0.09), best seen in channels 1 and 4. In particular, gastric activity became more abnormal in the upright position in the POTS group, whereas the opposite occurred in the No-POTS group. CONCLUSIONS: The electrical activity of the stomach changes during the upright position in children with POTS, but not in children without this diagnosis. These changes could relate to their report of worsening pain in the upright position.

Autonomic testing in functional gastrointestinal disorders: implications of reproducible gastrointestinal complaints during tilt table testing.

BACKGROUND: The pathophysiology of functional abdominal pain (FAP) is unknown. The upright portion of a tilt table test triggers typical symptoms in certain children. AIM: To compare the pathophysiology and treatment response of children with FAP whose gastrointestinal symptoms (GI) were replicated (RGI) by tilt table testing (TTT) to those in whom TTT did not have this effect (NRGI). METHODS: An IRB-approved retrospective review of the autonomic laboratory database identified all children tested for GI complaints. We compared results of TTT, Valsalva maneuver, deep breathing and the axon reflex sweat test. Overall treatment response and that specific to fludrocortisone was ranked from 1 to 5, with 1 "much worse," 3 "neutral," and 5 "much better." RESULTS: 32/76 identified children had reproducible symptoms on TTT (RGI) and 44 did not (NRGI). The RGI group was younger, had a shorter duration of symptoms, more postural tachycardia syndrome (POTS) and benefited more from fludrocortisone (73% in RGI vs. 25% in NRGI). CONCLUSION: Dividing patients with FAP according to the effect of TTT on their symptoms appears to delineate 2 fundamentally different groups, with potentially different pathophysiologies and treatment responses. A prospective study is needed.

Stool consistency and stool frequency are excellent clinical markers for adequate colon preparation after polyethylene glycol 3350 cleansing protocol: a prospective clinical study in children.

BACKGROUND: Colon preparation for a colonoscopy in children is a difficult task because of the unpalatable taste and large volume of cleansing solution that needs to be consumed to ensure a clean colon. Consequently, an unprepared colon frequently occurs in routine practices, which causes early termination and a repeated procedure. OBJECTIVE: (1) To assess the effectiveness of polyethylene glycol solution (PEG 3350) in preparing the colon of children scheduled for a colonoscopy and (2) to investigate clinical markers associated with an adequate colon preparation before a colonoscopy. PATIENTS: A total of 167 children scheduled for a colonoscopy. DESIGN: In a prospective study, children scheduled for a colonoscopy were given PEG 3350 solution (1.5 g/kg per day, up to 100 g/d) over a 4-day preparation period. Each day, a simple questionnaire that documents the amount of liquid consumed, adverse effects, and the number and consistency of stool was completed by the parents. After a colonoscopy procedure, the colon preparation was assigned a number grade. The data were later assessed and were compared to determine the association between the grade of cleansing and the frequency and/or consistency of stool during preparation. RESULTS: Colon preparation was completed in 149 children, 133 of whom were adequately prepared. Inadequate preparation was found in 16 children; the procedure was terminated prematurely in 2 of these patients because of unacceptable conditions. No significant adverse effects were noted. A number of >or=5 stools/d, and liquid stool consistency in the last 2 days of preparation were associated with adequate colon preparation. CONCLUSIONS: PEG 3350 solution is safe, efficacious, and tolerable for children. Stool frequency and consistency in the last 2 days of preparation were excellent markers (positive predictive value 91%-95%), which predict an adequately clean colon before a colonoscopy in children.

Digital rectal examination and the primary care physicians: a lost art?

Digital rectal examination (DRE) in children is crucial to differentiate between simple (habitual) and complicated constipation. Previous experience suggests that primary care physicians (PCPs) avoid DRE in children with constipation before referral. We evaluated the rate of DRE performance by West Virginian PCPs in patients referred to our gastroenterology clinic. Data were collected from the physicians' referral letters and parental reports. We found that the vast majority (85%) of WV-PCPs do not perform DRE before referring their patients, resulting in missed diagnoses and treatment. We concluded that the lack of DRE in children with constipation may result in unnecessary referral to the specialist. To improve standard of care for children with constipation, an educational campaign for PCPs is clearly warranted.