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1.
Am J Med Genet C Semin Med Genet ; 193(4): e32071, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37882146

ABSTRACT

Down syndrome (DS) is associated with multiple medical comorbidities. Perhaps related to such, caregivers of individuals with DS report lower quality of life (QoL) compared to individuals without DS. It has been shown that disorders of gut-brain interaction (DGBI) such as functional constipation (FC) and irritable bowel syndrome (IBS) are common in individuals with DS. We measured caregiver-reported QoL in individuals with DS with a DGBI and compared them to individuals with DS without a DGBI via a cross-sectional national survey. All measures of QoL were lower in those with DS who meet criteria for a DGBI compared to those with DS without a DGBI. Males and females with DS and at least one DGBI had similar QoL scores. While FC was the most common DGBI seen in individuals with DS, there was no difference in any aspect of QoL in subjects with FC when compared to individuals with other DGBIs. However, all measures of QoL were lower in those with IBS compared to individuals with other DGBIs. These findings suggest that management of gastrointestinal symptoms from DGBIs, particularly IBS, may serve as a target for increasing QoL in a notable subset of individuals with DS.


Subject(s)
Brain Diseases , Down Syndrome , Irritable Bowel Syndrome , Male , Female , Child , Humans , Irritable Bowel Syndrome/complications , Irritable Bowel Syndrome/diagnosis , Quality of Life , Down Syndrome/complications , Cross-Sectional Studies , Constipation/complications , Constipation/diagnosis , Brain , Surveys and Questionnaires
3.
J Neurogastroenterol Motil ; 29(1): 94-101, 2023 Jan 30.
Article in English | MEDLINE | ID: mdl-36606440

ABSTRACT

Background/Aims: Disorders of brain-gut interaction (DGBIs) are present in adults and children around the world. Down syndrome (DS) is the most common chromosomal condition in humans. While DS has associations with many organic medical conditions, the frequency of DGBIs in children and adolescents with DS has not previously been studied. We assess the rate of DGBIs in children and adolescents 4-18 years of age with DS in the United States using the Rome IV criteria by caregiver report. Methods: This is a cross-sectional national survey study in which caregivers (n = 114) of children with DS completed an online survey about their child's gastrointestinal symptoms and quality of life (QoL). Results: Using the Rome IV parent-report diagnostic questionnaire, 51.8% of children met symptom-based criteria for at least 1 DGBI. Functional constipation (36.0%) and irritable bowel syndrome (14.9%) were the most common disorders identified. QoL was lower in children with at least 1 disorder as compared to children who did not meet criteria for any disorders (mean QoL = 62.3 vs mean QoL = 72.9, P < 0.001). Almost all children with DS and concomitant autism (87.5%) had at least 1 DGBI. Conclusions: DGBIs are common in children with DS and are associated with diminished QoL.

4.
World J Gastroenterol ; 26(40): 6260-6269, 2020 Oct 28.
Article in English | MEDLINE | ID: mdl-33177798

ABSTRACT

BACKGROUND: Bowel preparation in children can be challenging. AIM: To describe the efficacy, safety, and tolerability of sodium picosulfate, magnesium oxide, and citric acid (SPMC) bowel preparation in children. METHODS: Phase 3, randomized, assessor-blinded, multicenter study of low-volume, divided dose SPMC enrolled children 9-16 years undergoing elective colonoscopy. Participants 9-12 years were randomized 1:1:1 to SPMC ½ dose × 2, SPMC 1 dose × 2, or polyethylene glycol (PEG). Participants 13-16 years were randomized 1:1 to SPMC 1 dose × 2 or PEG. PEG-based bowel preparations were administered per local protocol. Primary efficacy endpoint for quality of bowel preparation was responders (rating of 'excellent' or 'good') by modified Aronchick Scale. Secondary efficacy endpoint was participant's tolerability and satisfaction from a 7-item questionnaire. Safety assessments included adverse events (AEs) and laboratory evaluations. RESULTS: 78 participants were randomized, 48 were 9-12 years, 30 were 13-16 years. For the primary efficacy endpoint in 9-12 years, 50.0%, 87.5%, and 81.3% were responders for SPMC ½ dose × 2, SPMC 1 dose × 2, and PEG groups, respectively. Responder rates for 13-16 years were 81.3% for SPMC 1 dose × 2 and 85.7% for PEG. Overall, 43.8% of participants receiving SPMC 1 dose × 2 reported it was 'very easy' or 'easy' to drink, compared with 20.0% receiving PEG. Treatment-emergent AEs were reported by 45.5% of participants receiving SPMC 1 dose × 2 and 63.0% receiving PEG. CONCLUSION: SPMC was an efficacious and safe for bowel preparation in children 9-16 years, with comparable efficacy to PEG. Tolerability for SPMC was higher compared to PEG.


Subject(s)
Magnesium Oxide , Organometallic Compounds , Cathartics/adverse effects , Child , Citrates/adverse effects , Citric Acid/adverse effects , Colonoscopy , Humans , Magnesium Oxide/adverse effects , Organometallic Compounds/adverse effects , Picolines , Polyethylene Glycols/adverse effects
5.
J Pediatr ; 227: 53-59.e1, 2020 12.
Article in English | MEDLINE | ID: mdl-32798564

ABSTRACT

OBJECTIVE: To describe the use of complementary and alternative medicine (CAM) in pediatric functional abdominal pain disorders at a large Midwestern pediatric gastroenterology center. STUDY DESIGN: A survey of patients attending a follow-up visit for functional abdominal pain disorders was completed. Data were collected on demographics, quality of life, use of conventional therapies, patient's opinions, and perception of provider's knowledge of CAM. RESULTS: Of 100 respondents (mean age, 13.3 ± 3.5 years), 47 (60% female) had irritable bowel syndrome, 29 (83% female) had functional dyspepsia, 18 (67% female) had functional abdominal pain, and 6 (83% female) had abdominal migraine (Rome III criteria). Ninety-six percent reported using at least 1 CAM modality. Dietary changes were undertaken by 69%. Multivitamins and probiotics were the most common supplements used by 48% and 33% of respondents, respectively. One-quarter had seen a psychologist. Children with self-reported severe disease were more likely to use exercise (P < .05); those with active symptoms (P < .01) or in a high-income group (P < .05) were more likely to make dietary changes; and those without private insurance (P < .05), or who felt poorly informed regarding CAM (P < .05), were more likely to use vitamins and supplements. Seventy-seven percent of patients described their quality of life as very good or excellent. CONCLUSIONS: The use of CAM in children with functional abdominal pain disorders is common, with a majority reporting a high quality of life. Our study underscores the importance of asking about CAM use and patient/family knowledge of these treatments.


Subject(s)
Complementary Therapies/methods , Gastrointestinal Diseases/therapy , Abdominal Pain , Academic Medical Centers , Adolescent , Child , Complementary Therapies/psychology , Complementary Therapies/statistics & numerical data , Exercise , Female , Gastrointestinal Diseases/psychology , Health Knowledge, Attitudes, Practice , Humans , Male , Probiotics/therapeutic use , Quality of Life , Surveys and Questionnaires , Vitamins/therapeutic use
7.
Eur J Pediatr ; 179(6): 909-917, 2020 Jun.
Article in English | MEDLINE | ID: mdl-31984440

ABSTRACT

The objectives of this study were to determine if any specific clinical signs, symptoms, or comorbidities could reliably predict underlying feeding difficulty and need for further evaluation (i.e., video swallow study, VSS) in infants with Down syndrome, to establish the prevalence of gastrostomy tube placement (G-tube), and to determine if any clinical signs, symptoms, or comorbidities correlated with a higher risk for needing placement of a G-tube. An electronic medical record retrospective chart review of 73 children with Down syndrome born between January 2013 and March 2017 and seen in Nationwide Children's Hospital's multidisciplinary Down Syndrome Clinic included demographic information, medical history, and results of studies and specialist evaluations. Descriptive statistics were utilized to summarize the data. Comparisons were performed to identify factors which differed between feeding difficulty vs. no feeding difficulty and G-tube placement vs. no G-tube placement. "Feeding difficulty" was the only feeding term established by the AAP guidelines which was consistently noted in charts of children with feeding abnormalities. Infants with feeding difficulty had increased use of medical services and more abnormalities on specialist evaluations and studies. Congenital heart disease, cardiothoracic surgery, obstructive sleep apnea, and hypothyroidism did not differ significantly between the groups assessed. Our cohort had a prevalence of 13.7% for requiring G-tube placement in their first year of life.Conclusion: The currently established clinical tools for determining which patients may benefit from radiographic evaluation lack sufficient sensitivity to detect all individuals with feeding difficulty. Due to the high prevalence of abnormal VSS results and high rate of G-tube placement, universal radiographic screening for individuals with Down syndrome could be considered, even in the absence of obvious clinical signs or symptoms. However, determining how to balance this with cost, availability, and radiation exposure may be difficult.What is Known: • Feeding difficulty in children with Down syndrome can lead to significantly increased morbidity, such as poor weight gain, failure to thrive, aspiration, persistent respiratory symptoms, andrecurrent pneumonia. • The AAP has established a clinical tool regarding which objective signs and symptoms should lead to a radiographic swallowing assessment within their Health Supervision for Children with Down Syndrome Clinical Report.What is New: • A comprehensive assessment of clinical signs, symptoms, and common comorbidities in infants with Down syndrome has not previously been correlated with presence of feeding difficulty nor necessity for gastrostomy tube placement, including whether or not the terms used in the AAP guidelines encompass the sensitivity required to detect all infants with feeding difficulty. • The prevalence of gastrostomy tube placement in children with Down syndrome has not previously been established.


Subject(s)
Deglutition Disorders/surgery , Down Syndrome/complications , Gastrostomy/statistics & numerical data , Deglutition Disorders/diagnostic imaging , Deglutition Disorders/epidemiology , Deglutition Disorders/etiology , Female , Humans , Infant , Infant, Newborn , Male , Prevalence , Radiography , Retrospective Studies
8.
J Pediatr Gastroenterol Nutr ; 70(1): e7-e11, 2020 01.
Article in English | MEDLINE | ID: mdl-31880681

ABSTRACT

A few studies have shown that esophageal air events (EAEs), such as air-swallows, may be associated with symptoms that have historically been associated with gastroesophageal reflux disease (GERD). To objectively test a hypothesis that all EAE types (air-swallows, supragastric belches and gastric belches) can be associated with GERD-like symptoms, we removed the impedance "tags" from the GER episodes (placed during autoscan) and instead tagged either air-swallows, supragastric belches or gastric belches in each of 3 copies of the 24-hour impedance tracing for 2 infant patients who presented with symptoms suggestive of GER as an etiology. Impedance system software (MMS) analyses revealed that, in both infants, all EAE types were significantly associated (SAP >95%) with 1 or more of the GERD-like symptom types (cough, pain/crying, back-arching, and gagging). These data underscore the importance of considering other diagnoses when developing management strategies for treating GERD-like symptoms in infants.


Subject(s)
Aerophagy/diagnosis , Electric Impedance , Eructation/diagnosis , Gastroesophageal Reflux/diagnosis , Diagnosis, Differential , Esophageal pH Monitoring , Esophagus/physiopathology , Female , Humans , Infant , Male
9.
Am J Perinatol ; 36(2): 136-140, 2019 01.
Article in English | MEDLINE | ID: mdl-29945281

ABSTRACT

Here, we review the case of a 26 1/7 weeks' gestation premature female infant born to a mother who intentionally ingested a large quantity of Tylenol, aspirin, quetiapine, and prenatal vitamins. The neonate subsequently had markedly elevated levels of both Tylenol and aspirin when checked on the first day of life. While overall clinically stable, the neonate did demonstrate coagulopathy as evidenced by abnormal coagulation studies. Both poison control and a pediatric gastroenterologist/hepatologist were consulted. She successfully tolerated a course of N-acetylcysteine; her subsequent Tylenol level was markedly decreased and the neonate exhibited no further effects of toxicity. The salicylate level decreased on its own accord. To our knowledge, this is the first report of a neonate at 26 weeks' gestation that has been successfully managed for supratherapeutic concentrations of acetaminophen and acetylsalicylic acid secondary to maternal ingestion. While rare, this case may serve as a reference for the effectiveness of N-acetylcysteine in premature infants in such instances.


Subject(s)
Acetaminophen/blood , Antidotes/therapeutic use , Aspirin/blood , Cystine/analogs & derivatives , Infant, Premature, Diseases/drug therapy , Infant, Premature/blood , Maternal Exposure , Poisoning/drug therapy , Acetaminophen/poisoning , Antidepressive Agents/poisoning , Aspirin/poisoning , Cystine/therapeutic use , Drug Overdose , Female , Humans , Infant, Newborn , Pregnancy , Quetiapine Fumarate/poisoning , Sodium Bicarbonate/therapeutic use , Suicide, Attempted
10.
Paediatr Drugs ; 20(6): 523-537, 2018 Dec.
Article in English | MEDLINE | ID: mdl-30198060

ABSTRACT

Gastroesophageal reflux (GER) is the retrograde movement of gastric (and sometimes duodenal) contents into the esophagus. While the majority of GER is physiologic, for patients, it can be associated with symptoms. While some symptoms are merely bothersome (crying), others can be life threatening (cough, gagging, choking). The main driver of GER in infants is the frequent feedings that produce increased intra-abdominal pressure, which is known to trigger transient relaxations of the lower esophageal sphincter. The recent 2018 clinical practice guidelines reported by the North American and European Societies for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN/ESPGHAN) have recommended non-pharmacologic management initially with subsequent consideration of brief trials with acid suppressants. The main target for these acid suppressants is the gastric parietal cells. Our review of the literature has revealed a paucity of data regarding the use of histamine-2 receptor antagonists and proton pump inhibitors in infants. Despite the absence of well-controlled clinical studies, the prescription rate of these medications has increased internationally. Risks to patients of all ages have become increasingly recognized, with new associations being reported all too often. Here we report our review of all pharmacologic modalities as well as some non-surgical options.


Subject(s)
Gastroesophageal Reflux/diagnosis , Histamine H2 Antagonists/therapeutic use , Child , Gastroesophageal Reflux/drug therapy , Gastroesophageal Reflux/pathology , Histamine H2 Antagonists/pharmacology , Humans , Infant
11.
J Pediatr Gastroenterol Nutr ; 61(3): 340-5, 2015 Sep.
Article in English | MEDLINE | ID: mdl-25844706

ABSTRACT

OBJECTIVES: There are a limited number of medications for the treatment of foregut dysmotility. Enteral amoxicillin/clavulanic acid induces phase III duodenal contractions in a fasting pediatric patient. The mechanism by which this occurs is unknown. We examined the individual contributions of amoxicillin and clavulanic acid on the spontaneous mechanical activity of juvenile rat duodenum to better understand this phenomenon. METHODS: Duodenal segments from juvenile rats were longitudinally attached to force transducers in organ baths. Samples were cumulatively exposed to amoxicillin or clavulanic acid. Separate samples were exposed to carbachol alone to assess response in both the presence and absence of amoxicillin or clavulanic acid. Basal tone, frequency, and amplitude of contractions were digitized and recorded. RESULTS: The amplitude of the spontaneous contractions increased with amoxicillin. Inhibition of neuronal activity prevented this effect. Clavulanic acid did not affect the spontaneous contractions. Basal tone and the rate of contractions did not differ with either drug. Stimulation with carbachol in the presence of amoxicillin caused a statistically significant increase in the contractility compared with carbachol alone. CONCLUSIONS: Amoxicillin alters the spontaneous longitudinal mechanical activity of juvenile rat duodenum. Our results suggest that amoxicillin modulates the spontaneous pattern of cyclic mechanical activity of duodenal smooth muscle through noncholinergic, neurally mediated mechanisms. Our work provides an initial physiologic basis for the therapeutic use of amoxicillin in patients with gastrointestinal dysmotility.


Subject(s)
Amoxicillin/pharmacology , Anti-Bacterial Agents/pharmacology , Clavulanic Acid/pharmacology , Duodenum/drug effects , Gastrointestinal Motility/drug effects , beta-Lactamase Inhibitors/pharmacology , Animals , Carbachol/metabolism , Duodenum/physiology , Muscle Contraction/drug effects , Muscle, Smooth/drug effects , Rats , Rats, Inbred WKY
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