Prevalence of Exocrine Pancreatic Dysfunction Based on Direct Function Testing in Pediatric Inflammatory Bowel Disease.

OBJECTIVES: Patients with inflammatory bowel disease (IBD) frequently have extraintestinal manifestations. The goal of this pilot study was to assess exocrine pancreatic function in cases with suspicion for or an established diagnosis of IBD. METHODS: Direct stimulated endoscopic pancreatic function test (ePFT) was performed in 74 children with IBD, in both newly diagnosed and established cases. Demographic, clinical, and laboratory parameters were entered into a database and analyzed. RESULTS: Among the 74 children, 49 were newly diagnosed and 25 had an established diagnosis of IBD. A majority had the diagnosis of Crohn disease (CD) (n = 48; 32 new and 16 established cases) with male predominance (64.6%). Altogether, 42 (56.7%) children had either generalized or partial exocrine pancreatic insufficiency (EPI). Twenty-four of the 48 CD children (50%) had abnormal ePFT. In those with ulcerative colitis (UC), 18 of the 26 (62.9%) had abnormal ePFT. The highest abnormality rate was in lipase enzyme activity. Weight z scores were significantly lower in those with abnormal ePFT (Crohn cases: P = 0.008; UC cases: P = 0.046). Peak protein concentration in collected pancreatic fluid was significantly lower in children with CD who had abnormal ePFT ( P = 0.013). CONCLUSIONS: This pilot study revealed a relatively high prevalence of EPI in children with IBD through use of ePFT. EPI can result in maldigestion, with decreased capacity to digest fat. Further prospective studies are needed to assess need and efficacy of pancreatic enzyme replacement therapy in children with IBD and abnormal ePFT.

The Mutant Mouse Resource and Research Center (MMRRC): the NIH-supported National Public Repository and Distribution Archive of Mutant Mouse Models in the USA.

The Mutant Mouse Resource and Research Center (MMRRC) Program is the pre-eminent public national mutant mouse repository and distribution archive in the USA, serving as a national resource of mutant mice available to the global scientific community for biomedical research. Established more than two decades ago with grants from the National Institutes of Health (NIH), the MMRRC Program supports a Consortium of regionally distributed and dedicated vivaria, laboratories, and offices (Centers) and an Informatics Coordination and Service Center (ICSC) at three academic teaching and research universities and one non-profit genetic research institution. The MMRRC Program accepts the submission of unique, scientifically rigorous, and experimentally valuable genetically altered and other mouse models donated by academic and commercial scientists and organizations for deposition, maintenance, preservation, and dissemination to scientists upon request. The four Centers maintain an archive of nearly 60,000 mutant alleles as live mice, frozen germplasm, and/or embryonic stem (ES) cells. Since its inception, the Centers have fulfilled 13,184 orders for mutant mouse models from 9591 scientists at 6626 institutions around the globe. Centers also provide numerous services that facilitate using mutant mouse models obtained from the MMRRC, including genetic assays, microbiome analysis, analytical phenotyping and pathology, cryorecovery, mouse husbandry, infectious disease surveillance and diagnosis, and disease modeling. The ICSC coordinates activities between the Centers, manages the website (mmrrc.org) and online catalog, and conducts communication, outreach, and education to the research community. Centers preserve, secure, and protect mutant mouse lines in perpetuity, promote rigor and reproducibility in scientific experiments using mice, provide experiential training and consultation in the responsible use of mice in research, and pursue cutting edge technologies to advance biomedical studies using mice to improve human health. Researchers benefit from an expansive list of well-defined mouse models of disease that meet the highest standards of rigor and reproducibility, while donating investigators benefit by having their mouse lines preserved, protected, and distributed in compliance with NIH policies.

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.

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.

Isolated Amylase Deficiency in Children and Its Clinical Implication.

OBJECTIVES: Among the 3 lines of pancreatic enzymes, amylase secretion develops last and it is not detected in duodenal aspirates of infants in the first month after birth. The aim of this study was to assess the prevalence and symptoms of isolated amylase deficiency in children. METHODS: During a 6-year period, we performed endoscopic pancreatic function tests (ePFT) in 712 children. Isolated amylase deficiency was defined as activity that was below the third percentile of our referenced population with normal lipase and protease activities. RESULTS: Seventy-two children between age 0.21 and 15.7 years (boys, n = 35) had isolated amylase deficiency. The highest prevalence of isolated amylase deficiency was found in patients less than 6 months of age (52.9%). From 6 months to 1 year of age, the prevalence was 40%. The prevalence gradually decreased until 18 months. Failure to thrive, poor weight gain, diarrhea, and abdominal bloating were the most frequent indications for ePFT. Eleven children had repeat ePFT after initial diagnosis and 6 had normal enzyme activity, whereas 5 had remained amylase-deficient an average of 1.65 years later. CONCLUSIONS: The prevalence of selective amylase deficiency was 10.1% in the 712 children who underwent ePFT with the suspicion of malabsorption. Low amylase activity is "physiologic" in infants <6 months of age, however, this study supports that it should be considered in the differential diagnosis in children older than 6 months of age.

Treatment of acute myeloid leukemia during pregnancy.

OBJECTIVES: Systematically review the literature assessing outcomes of acute myeloid leukemia (AML) treatment during pregnancy. DATA SOURCES: A Pubmed literature search (January 1969 to June 2014) for articles written about AML and pregnancy, and bibliographies/citations of previously published reviews. STUDY SELECTION AND DATA EXTRACTION: Articles written in the English language that administered active AML chemotherapy during pregnancy were included. DATA SYNTHESIS: Eighty-five fetuses were exposed to chemotherapy from 83 mothers: 8 mothers began induction chemotherapy in the first trimester, 61 mothers in the second trimester, and 14 mothers in the third trimester. Chemotherapy resulted in more fetal deaths and spontaneous abortions during the first trimester (37.5%) compared with the second (9.7%) and third trimesters (0%). All cases included cytarabine; 47 fetuses were exposed to daunorubicin and 8 fetuses to idarubicin. The percentages of fetal defects and death for cytarabine and daunorubicin combinations were 8.5% and 6.4%, respectively. With cytarabine and idarubicin combinations, the percentages of fetal defects and death were 28.6% and 12.5%, respectively. Complete remission (CR) rates were 100%, 81%, and 67% in the first, second, and third trimesters. CONCLUSIONS: Treatment during the second and third trimesters resulted in fewer fetal complications than the first trimester. However, delaying AML treatment may adversely affect the mother's outcomes. In the reported cases, induction during pregnancy resulted in CR rates comparable to that in nonpregnant patients. The choice of anthracycline is still unclear, but the decision should be made with careful consideration, weighing the outcomes for the mother and fetus.

Nelarabine neurotoxicity with concurrent intrathecal chemotherapy: Case report and review of literature.

Severe nelarabine neurotoxicity in a patient who received concurrent intrathecal (IT) chemotherapy is reported. A 37-year-old Caucasian woman with a history of T-cell lymphoblastic lymphoma was admitted for relapsed disease. She was originally treated with induction chemotherapy followed by an autologous transplant. She developed relapsed disease 10 months later with leukemic involvement. She was re-induced with nelarabine 1500 mg/m(2) on days 1, 3, and 5 with 1 dose of IT cytarabine 100 mg on day 2 as central nervous system (CNS) prophylaxis. At the time of treatment, she was on continuous renal replacement therapy due to sequelae of tumor lysis syndrome (TLS). She tolerated therapy well, entered a complete remission, and recovered her renal function. She received a second cycle of nelarabine without additional IT prophylaxis one month later. A week after this second cycle, she noted numbness in her lower extremities. Predominantly sensory, though also motor and autonomic, peripheral neuropathy started in her feet, ascended proximally to the mid-thoracic region, and eventually included her distal upper extremities. A magnetic resonance imaging (MRI) of her spine demonstrated changes from C2 to C6 consistent with subacute combined degeneration. Nelarabine was felt to be the cause of her symptoms. Her neuropathy stabilized and showed slight improvement and ultimately received an unrelated, reduced-intensity allogeneic transplant while in complete remission, but relapsed disease 10 weeks later. She is currently being treated with best supportive care. To our knowledge, this is the first published case report of severe neurotoxicity caused by nelarabine in a patient who received concurrent IT chemotherapy.

Rupture of the maternal renal calyx secondary to fetal malpresentation: a case report.

BACKGROUND: Rupture of the renal collecting system is a potentially life-threatening condition in pregnancy. Most cases are associated with obstruction from nephrolithiasis or diseased renal parenchyma. CASE: A 24-year-old, nulliparous, African American woman at 38 weeks + 3 days' gestation presented with left flank pain refractory to conservative pain management. Computed tomography was negative for a stone but significant for infrarenal fluid and rupture of a left renal calyx. The fetal head was not flexed and appeared to be compressing the left ureter. A face presentation became apparent during her labor course, and she underwent a cesarean delivery when labor did not progress. CONCLUSION: This represents the first reported case of a ruptured renal collecting system secondary to fetal malpresentation. A high index of suspicion is essential to diagnose collecting system rupture, and it may occur in the absence of parenchymal disease or stones.

Fosaprepitant for the Treatment of Refractory Postoperative Nausea and Vomiting.

Postoperative nausea and vomiting (PONV) is a debilitating condition that occurs in approximately 30% of patients undergoing general anesthesia. Premedication with 5-HT3 receptor antagonists and glucocorticoids is effective in clinical practice; however, 10% to 20% of patients still develop PONV. Currently, little is known about the treatment of refractory PONV. We present a case that illustrates the use of fosaprepitant for the treatment of refractory postoperative nausea and vomiting.

Extravasation of Noncytotoxic Drugs: A Review of the Literature.

OBJECTIVE: Extravasation is a potential complication associated with intravenous therapy administration. Inadvertent leakage of medications with vesicant properties can cause severe tissue necrosis, which can lead to devastating long-term consequences. Recognizing potential agents is an essential step in mitigating the risk of extravasation. DATA SOURCE: A literature search was carried out using PubMed with the following key words: extravasation, soft tissue injury, phlebitis, and infiltration, from January 1961 through January 2014. STUDY SELECTION AND DATA EXTRACTION: The publications were screened manually and reviewed to identify reports for medications that included synonyms of the International Nonproprietary Name, while excluding antineoplastic agents, radiographic contrast material, investigational or nonmarketed drugs, and animal data, to yield 70 articles. Furthermore, reference citations from publications were also reviewed for relevance and yielded 4 articles. DATA SYNTHESIS: We discovered 232 cases of extravasation involving 37 agents (in order of frequency): phenytoin, parenteral nutrition, calcium gluconate, potassium chloride, calcium chloride, dopamine, dextrose solutions, epinephrine, sodium bicarbonate, nafcillin, propofol, norepinephrine, mannitol, arginine, promethazine, vancomycin, tetracycline, dobutamine, vasopressin, sodium thiopental, acyclovir, amphotericin, ampicillin, cloxacillin, gentamicin, metronidazole, oxacillin, penicillin, amiodarone, albumin, furosemide, lipids, lorazepam, immunoglobulin, morphine, and sodium valproate. Potential properties contributing to extravasation include the following: pH, osmolarity, diluent, vasoactive properties, and inactive ingredients. Antidotes and supportive care agents used in the management of these cases of extravasation include hyaluronidase, phentolamine, terbutaline, topical anesthetics (such as lidocaine and prilocaine cream), topical antimicrobials (such as silver sulfadiazine and chlorhexidine), topical debridement agents (collagenase ointment), topical steroids, and topical vasodilators (nitroglycerin). CONCLUSION: Data on the management of noncytotoxic extravasations is sparse, consisting primarily of case reports and anecdotal evidence. Fortunately, this adverse outcome is preventable and identification of vesicant agents plays a pivotal role. The intent of this review is to provide a reference identifying noncytotoxic vesicants and the management of extravasations associated with specific agents.

Pyloric Stenosis in a Patient with CEDNIK Syndrome.

We present a rare neurocutaneous genetic disorder where patients develop a combination of cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma, commonly known as CEDNIK syndrome. It is an autosomal recessive inheritance involving the SNAP29 protein, mapped to the 22q11.2 gene. Phenotypic variation is seen with this disease, with clinical manifestation of developmental milestone delays ranging in severity. With only a handful of documented cases, available research, management of the syndrome, and prognosis are not well established. As CEDNIK syndrome has systemic implications, care coordination between specialists is essential in improving patient outcomes. Particularly important is preventing patients from meeting the criteria of failure to thrive, a commonly reported issue. In this case, we present a four-month-old male with a past medical history of pyloric stenosis status/post pyloromyotomy who has failure to thrive, gastroesophageal reflux disease, profound hypotonia, and delayed progression of developmental milestones. Additionally, the case is complicated by idiopathic pyloric stenosis, further contributing to the patient's failure to thrive. We aim to discuss the pathophysiology of this syndrome, explore the timeline of disease progression, as well as compare our case to the current literature.

Rounding rituximab dose to nearest vial size.

PURPOSE: To determine the feasibility of dose-rounding rituximab by looking at the potential deviation from the prescribed dose to the dose rounded to the nearest vial size. METHODS: This study is a retrospective chart review of all rituximab orders prescribed for hematologic or oncologic indications over a period of 24 months. The feasibility of dose-rounding rituximab to the nearest vial size was evaluated by looking at the potential deviation of the prescribed dose to the rounded dose. Physician opinion towards dose rounding rituximab was assessed through a survey. RESULTS: From October 2008 through September 2010, 2028 orders of rituximab were prescribed and processed. Ninety-nine percent of all rituximab doses fell within 10% dose deviation if rounded to the nearest 100-mg vial size and 66.1% of all rituximab orders fell within 5% dose deviation. All responding physicians were comfortable with at least a 5% dose deviation, projecting a yearly savings of approximately US$37,000 through rounding down and capturing additional cost of approximately US$43,000 through rounding up. CONCLUSION: The projected savings of dose-rounding rituximab to the nearest vial size resulted in both substantial financial savings and reduced unnecessary wastage of unused drug.

Multifocal hepatic abscess post-ERCP.

A woman in her 40s presented to hospital with cholangitis. A magnetic resonance cholangiopancreatography showed a moderately dilated common bile duct and mild intrahepatic duct dilatation with sludge. She underwent a successful endoscopic retrograde cholangiopancreatography (ERCP) and sphincteroplasty. She subsequently developed recurrence of fevers and abdominal pain with rising inflammatory markers. Initial investigations and imaging were unremarkable. A positron emission tomography scan demonstrated multiple fluorodeoxyglucose (FDG)-avid hepatic lesions, and subsequent imaging confirmed multifocal liver abscesses without a drainable collection. The patient was managed with intravenous co-amoxiclav initially before switching to oral antibiotics, however, represented 1 week later with similar symptoms. Her antibiotic coverage was broadened to intravenous pipercillin-tazobactam, and she was discharged on this with follow-up in clinic. This case report highlights the rare complication of hepatic abscesses following ERCP and the importance of considering this as a differential in patients who present with sepsis following the procedure.

Smoking status in acute myeloid leukemia is associated with worse overall survival and independent of prior nonhematopoietic malignancies, cytogenetic abnormalities, and WHO category.

Acute myeloid leukemia (AML) is an aggressive hematopoietic malignancy with several patient- and disease-associated variables known to impact prognosis. Tobacco smoking is an environmental factor associated with a greater incidence of AML, but there have been limited studies that evaluated smoking toward overall survival. We retrospectively searched for AML cases and collected clinical and diagnostic data for each case. We also used an independent next-generation sequencing (NGS) data set to assess for a distinct mutational signature associated with smoking. When stratified by smoking status, there was a greater number of males, patients aged ≥60 years, and patients with ≥2 comorbidities within the smoking category (P < .05). Survival analysis demonstrated decreased survival probability in the smokers, male smokers, smokers with 1 other comorbidity, and smokers without a prior history of nonhematopoietic malignancy (P < .05) as compared to nonsmokers. Smoking was associated with a decrease in survival within the World Health Organization categories of AML, not otherwise specified (AML NOS; P = .035) and AML with recurrent genetic abnormalities (AML RGA; P = .002). Multivariate analysis showed that patients who were smokers had a greater hazard ratio than nonsmokers after adjusting for the other covariates. Our findings demonstrated that smoking was independently associated with decreased overall survival after adjusting for other potentially confounding factors. In addition, our results suggest that a mutational signature can be recognized using NGS data in a subset of AML patients who smoke.

Vaginal hemorrhage from transobturator sling controlled with QuikClot combat gauze.

A 42-year-old woman underwent an outside-in transobturator sling procedure, with subsequent venous hemorrhage. Two rolls of Combat Gauze were placed intravaginally and taken out on postoperative day 2 with good hemostasis. Despite careful technique, hemorrhage is a known complication of midurethral slings. Advanced hemostatic dressings may provide hemorrhage control and avoid the need for surgical intervention. After an extensive literature review, we present the first case of QuikClot Combat Gauze used as a hemostatic agent due to vaginal hemorrhage.

Development of the human pancreas and its exocrine function.

The pancreas has both endocrine and exocrine function and plays an important role in digestion and glucose control. Understanding the development of the pancreas, grossly and microscopically, and the genetic factors regulating it provides further insight into clinical problems that arise when these processes fail. Animal models of development are known to have inherent issues when understanding human development. Therefore, in this review, we focus on human studies that have reported gross and microscopic development including acinar-, ductal-, and endocrine cells and the neural network. We review the genes and transcription factors involved in organ formation using data from animal models to bridge current understanding where necessary. We describe the development of exocrine function in the fetus and postnatally. A deeper review of the genes involved in pancreatic formation allows us to describe the development of the different groups (proteases, lipids, and amylase) of enzymes during fetal life and postnatally and describe the genetic defects. We discuss the constellation of gross anatomical, as well as microscopic defects that with genetic mutations lead to pancreatic insufficiency and disease states.

Assessment of exocrine pancreatic function in children and adolescents with direct and indirect testing.

The exocrine pancreas plays an important role in digestion. Understanding of the physiology and regulation of exocrine function provides insight into disease processes and basis of functional testing. Specifically, exocrine pancreatic insufficiency (EPI) can cause maldigestion and thus a proper assessment of exocrine pancreatic function is important. There are indirect and direct methods for evaluating pancreatic function. Indirect methods are varied and include stool, serum, urine, and breath tests. Fecal elastase is a commonly used indirect test today. Direct methods involve stimulated release of pancreatic fluid that is collected from the duodenum and analyzed for enzyme activity. The most used direct test today is the endoscopic pancreatic function test. Indirect pancreatic function testing is limited in identifying cases of mild to moderate EPI, and as such in these cases, direct testing has higher sensitivity and specificity in diagnosing EPI. This review provides a comprehensive guide to indirect and direct pancreatic function tests as well as an in-depth look at exocrine pancreatic function including anatomy, physiology, and regulatory mechanisms.

Improving the quality of inpatient discharge summaries.

BACKGROUND: Discharge summaries (DCS) are vital in facilitating handover to community colleagues. Unfortunately, at Whittington Health, General Practitioners (GPs) found it difficult to identify relevant information in DCS, and use of medical jargon meant patients did not understand details of their admission. With this quality improvement project, the team aimed to improve DCS to enhance patient-centered care. OBJECTIVE: The aim of this quality improvement project (QIP) was to improve the quality of DCS by critiquing the ones produced within our trust and implementing various interventions. METHODS: Multiple Plan-Do-Study-Act (PDSA) cycles were completed. A multi-disciplinary meeting was conducted to identify the needs of each party in a DCS. A new template was subsequently launched. Teaching was conducted and educational leaflets were disseminated hospital-wide. Quality of written communication was audited quarterly, and evaluated against quality indicators. Problems with DCS were identified via GP and patient feedback, and these became the focus of subsequent PDSA cycles. RESULTS: From March 2019 to February 2020, all the audited categories improved, with an overall improvement from 67% to 92%. We also received positive feedback from GPs. CONCLUSIONS: Quality of DCS can be improved with appropriate interventions, leading to improved patient care. A similar PDSA cycle could be utilized elsewhere to achieve similar results.

Efficacy of Short Course of Preksha Dhyana for Functional Abdominal Pain Disorder in a Busy Pediatric Clinic.

Introduction: Mind body techniques such as meditation improve symptoms in children and adults with IBS. Typical courses, however, are lengthy and difficult to administer. We report our experience with a short course of Preksha Dhyana (PD), a child-friendly focused meditation with yoga. Method: Physicians deliver focused meditation while medical assistants taught yoga. Three sessions were administered biweekly with recommendations for daily practice. Pain severity Likert scores were compared with a treatment as usual (TAU) historical control. Anxiety scores were compared from baseline in the PD group. Results: Thirty PD patients aged 9-17 (20 female) and 52 consecutive TAU group aged 5-17 (33 female) were reviewed. The biweekly sessions had high (71%) completion rates. Utilization rates of PD were similar to TAU despite added sessions. The PD group had an average time of follow-up of 8.9 ± 9.4 vs. 6.0 ± 3.9 months in the TAU group (p = 0.522). Changes in pain scores from baseline showed improvement in the PD group, 0.67 ± 0.13 vs. TAU 1.39 ± 0.11 (p = 0.0003). In the PD group, anxiety scores improved significantly from baseline (0.5 vs. 1, P < 0.001). Pain improved in 93% (28/30) and resolved in 47% (14/30). Conclusion: A short course of PD was successfully embedded in a busy pediatric office without additional staffing. The approach proved cost-effective without increasing overall healthcare utilization and showed significant benefits over TAU. Pending RCT confirmation, this offers a cost-effective method to incorporate mind-body techniques into a pediatric office practice.

The Gut Microbiome Alterations in Pediatric Patients with Functional Abdominal Pain Disorders.

In this prospective longitudinal study, we enrolled 54 healthy pediatric controls and 28 functional abdominal pain disorders (FAPDs) pediatric patients (mean age was 11 ± 2.58 years old). Fecal samples and symptom questionnaires were obtained from all participants over the course of the year. Clinical data assessment showed that FAPDs patients were more symptomatic than the control group. Microbiome analysis revealed that Phylum Bacteroidetes was higher in FAPDs compared to the control group (p < 0.05), while phylum Firmicutes was lower in FAPDs (p < 0.05). In addition, Verrucomicrobiota was higher in the control group than the FAPDs (p < 0.05). At the genus level the relative abundance of 72 bacterial taxa showed statistically significant differences between the two groups and at the school term levels. In the control group, Shannon diversity, Observed_species, and Simpson were higher than the FAPDs (p < 0.05), and beta diversity showed differences between the two groups (PERMANOVA = 2.38; p = 0.002) as well. Using linear discriminant analysis effect size (LEfSe), Enterobacteriaceae family and Megaspherae showed increased abundances in vacation term (LDA score > 2.0, LEfSe, p < 0.05). In the FAPDs group, the severity of symptoms (T-scores) correlated with 11 different taxa bacterial relative abundances using Pearson's correlation and linear regression analyses. Our data showed that gut microbiome is altered in FAPDs compared to the control. Differences in other metrics such as alpha- and beta diversity were also reported between the two groups. Correlation of the severity of the disease (T-scores) correlated with gut microbiome. Finally, our findings support the use of Faecalibacterium/Bacteroides ratio as a potential diagnostic biomarker for FAPDs.