Factor Analysis of the Rome IV Criteria for Major Disorders of Gut-Brain Interaction (DGBI) Globally and Across Geographical, Sex, and Age Groups.

BACKGROUND & AIMS: The Rome criteria are widely accepted for diagnosing disorders of gut-brain interaction, but their global applicability has been debated. This study aimed to evaluate the validity of the Rome IV criteria by factor analysis globally, across geographical regions, by sex, and by age groups. METHODS: Data were collected in 26 countries using the Rome IV questionnaire. Forty-nine ordinal variables were used in exploratory factor analysis (EFA) to identify clusters of inter-correlated variables (factors) within the data set. Confirmatory factor analysis with predefined factors of the disorders of gut-brain interaction was compared with the factors in the EFA. Analyses were performed globally, for each geographical region (North and Latin America, Western and Eastern Europe, Middle East, Asia), sex, and age groups (18-34, 35-49, 50-64, ≥65). RESULTS: A total of 54,127 people were included. The EFA identified 10 factors accounting for 57% of the variance: irritable bowel syndrome, constipation, diarrhea, upper gastrointestinal symptoms, globus, regurgitation/retching, chest pain, nausea/vomiting, and 2 right upper quadrant pain factors. Most factors had close correspondence to a Rome IV criteria diagnosis, but notably, functional dysphagia and heartburn symptoms were often included in the same factor and/or in upper gastrointestinal symptoms. Most factors were consistent across geographical regions, sex, and age groups, and compatible to the global results. All prespecified factors in the confirmatory analysis had a loading ≥0.4, indicating validity of the Rome IV criteria. CONCLUSIONS: The results indicate that the Rome IV criteria for irritable bowel syndrome, functional dyspepsia, functional constipation, globus, and biliary pain are globally valid and represent universal diagnostic entities that are similar across sex and age groups.

Characteristics and Outcomes of Patients With Spina Bifida in Texas by Patient Age.

INTRODUCTION: Spina bifida (SB) occurs in 3.5/10,000 live births and is associated with significant long-term neurologic and urologic morbidity. We explored the characteristics and outcomes of pediatric patients with SB and the facilities that treat them in Texas. METHODS: We retrospectively reviewed a statewide hospital inpatient discharge database (2013-2021) to identify patients aged <18 y with SB using International Classification of Diseases 9/10 codes. Patients transferred to outside hospitals were excluded to avoid double-counting. Descriptive statistics and chi-square test were performed. RESULTS: Seven thousand five hundred thirty one inpatient hospitalizations with SB were analyzed. Most SB care is provided by a few facilities. Two facilities (1%) averaged >100 SB admissions per year (33% of patients), while 15 facilities (8%) treat 10-100 patients per year (51% of patients). Most facilities (145/193, 75%) average less than one patient per year. Infants tended to be sicker (17% extreme illness severity, P < 0.001). Overall mortality is low (1%), primarily occurring in the neonatal period (8%, P < 0.001). Most admissions are associated with surgical intervention, with 63% of encounters having operating room charges with an average cost of $25,786 ± 24,884. Admissions for spinal procedures were more common among infants, whereas admissions for genitourinary procedures were more common among older patients (P < 0.001). The average length of stay was 8 ± 16 d with infants having the longest length of stay (19 ± 33, P < 0.001). CONCLUSIONS: Patients have significant long-term health needs with evolving pediatric surgical indications as they grow. Pediatric SB care is primarily provided by a small number of facilities in Texas. Longitudinal care coordination of their multidisciplinary surgical care is needed to optimize patient care.

Prenatal diagnosis and postnatal outcome of closed spinal dysraphism.

OBJECTIVE: To evaluate the prenatal diagnosis of closed dysraphism (CD) and its correlation with postnatal findings and neonatal adverse outcomes. METHODS: A retrospective cohort study including pregnancies diagsnosed with fetal CD by prenatal ultrasound (US) and magnetic resonance imaging (MRI) at a single tertiary center between September 2011 and July 2021. RESULTS: CD was diagnosed prenatally and confirmed postnatally in 12 fetuses. The mean gestational age of prenatal imaging was 24.2 weeks, in 17% the head circumference was ≤fifth percentile and in 25% the cerebellar diameter was ≤fifth percentile. US findings included banana sign in 17%, and lemon sign in 33%. On MRI, posterior fossa anomalies were seen in 33% of cases, with hindbrain herniation below the foramen magnum in two cases. Mean clivus-supraocciput angle (CSA) was 74°. Additional anomalies outside the CNS were observed in 50%. Abnormal foot position was demonstrated prenatally in 17%. Neurogenic bladder was present in 90% of patients after birth. CONCLUSION: Arnold Chiari II malformation and impaired motor function can be present on prenatal imaging of fetuses with CD and may be associated with a specific type of CD. Prenatal distinction of CD can be challenging. Associated extra CNS anomalies are frequent and the rate of neurogenic urinary tract dysfunction is high.

The occipital interhemispheric transtentorial approach in infants and toddlers: efficacy and complications.

INTRODUCTION: Outcomes for pineal region and superior cerebellar tumors in young children often hinge on extent of microsurgical resection, and thus choosing an approach that provides adequate visualization of pathology is essential. The occipital interhemispheric transtentorial (OITT) approach provides excellent exposure while minimizing cerebellar retraction. However, this approach has not been widely accepted as a viable option for very young children due to concerns for potential blood loss when incising the tentorium. The aim of this paper is to characterize our recent institutional experience with the occipital interhemispheric transtentorial approach (OITT) for tumor resection in infants and toddlers. METHODS: A retrospective study was performed between 2016 and 2023 of pediatric patients less than 36 months of age who underwent OITT for tumor resection at a high-volume referral center. Patients with at least 3 months of postoperative follow-up and postoperative MRI were included. Primary outcomes included extent of resection, intraoperative and postoperative complications, and neurologic outcome. Secondary outcomes included length of stay and estimated blood loss. RESULTS: Eight patients, five male, were included. The median age at the time of surgery was 10 months (range 5-36 months). Presenting symptoms included macrocephaly, nausea/vomiting, strabismus, gait instability, or milestone regression. Hydrocephalus was present preoperatively in all patients. Average tumor volume was 38.6 cm3, ranging from 1.3 to 71.9 cm3. All patients underwent an OITT approach for tumor resection with stereotactic guidance. No intraoperative complications occurred, and no permanent neurologic deficits developed postoperatively. Gross total resection was achieved in all cases per postoperative MRI report, and no instances of new cerebellar, brainstem, or occipital lobe ischemia were noted. CONCLUSIONS: OITT approach for tumor resection in very young children (≤ 36 months) is an effective strategy with an acceptable safety profile. In our series, no significant intraoperative or postoperative complications occurred. To our knowledge, this is the first report describing this technique specifically in patients less than 36 months of age.

Health care transition models in spina bifida care: evidence-based lessons in support of neurosurgical practice.

OBJECTIVE: The purpose of this study was to conduct a literature review on transition programs from pediatric to adult care and the role of neurosurgery as individuals with spina bifida (SB) transition, and to provide a framework for neurosurgical providers to assist in the transition to adult-centered care. METHODS: A comprehensive literature review was conducted according to the PRISMA statement, with a search in Medline and Embase to identify US clinical programs reporting on their experiences establishing a transition program for adolescents and young adults with SB. Data were collected for authors, year, transition clinic location, model of care for transition clinic, ages served, and specialty clinical team. RESULTS: The literature search yielded 698 articles, 5 of which met the inclusion criteria. These 5 studies included 4 transition programs for which models of care and approach to transition, clinical services involved, establishment of goals, and age of initiation and transition were identified. All programs described setting transition goals, ranging from community services, to self-management, to health care navigation, to patient-driven goals, with 1 program reporting a quality-of-life measurement component to their model. CONCLUSIONS: Robust SB transition programs can be established by applying the expanded chronic care model, reviewing lessons learned by other programs, advocating at the institutional level, and seeking support via professional organizations. While the comprehensive role of neurosurgical providers in these programs is still being defined, a shared vision of enhancing the health and quality of life for individuals with SB and their families is needed by all subspecialists involved.

Proinflammatory Diet Is Associated With Increased Risk of Fecal Incontinence Among Older Women: Prospective Results From the Nurses' Health Study.

Fecal incontinence (FI) is a debilitating gastrointestinal disorder with a devastating impact on quality of life,1,2 particularly on older women, partly because of unique risk factors including parity and menopause.2,3 Therefore, identifying modifiable factors, such as diet, are crucial for developing effective prevention strategies for FI among those at risk. We previously found higher dietary fiber intake was associated with lower FI risk,4 providing the first population-based data to connect diet and FI prevention. However, prospective evidence on other dietary factors and FI risk has been limited. Dietary patterns may be associated with gut microbiome characteristics, which may influence inflammatory responses in the gastrointestinal tract5 and drive neurosensory disturbances.6 Moreover, chronic inflammation may drive reduced muscle mass and function,7 and pelvic floor dysfunction is an established FI risk factor.1,2 We hypothesized that a proinflammatory dietary pattern may be associated with increased FI risk and tested this hypothesis in the Nurses' Health Study.

Systematic classification and comparison of maternal and obstetrical complications following 2 different methods of fetal surgery for the repair of open neural tube defects.

BACKGROUND: In utero repair of open neural tube defects using an open hysterotomy approach (hereafter referred to as "open") has been shown to reduce the need for ventriculoperitoneal shunting and to improve motor outcomes for affected infants. Laparotomy-assisted fetoscopic repair (hereafter referred to as "hybrid") is an alternative approach that may confer similar neurologic benefits while reducing the incidence of hysterotomy-related complications. OBJECTIVE: This study aimed to analyze procedure-related maternal and fetal complications of in utero repair using the Clavien-Dindo classification, and to compare the outcomes of the hybrid and open approaches. STUDY DESIGN: This was a retrospective cohort study conducted in a single center between September 2011 and July 2021. All patients who met the Management of Myelomeningocele Study criteria and who underwent either hybrid or open fetal surgery were included. Maternal complications were classified using a unique adaptation of the Clavien-Dindo scoring system, allowing the development of a comprehensive complication index score specific to fetal surgery. Primary fetal outcome was defined as gestational age at delivery and summarized according to the World Health Organization definitions of preterm delivery. RESULTS: There were 146 fetuses with open neural tube defects who were eligible for, and underwent, in utero repair during the study period. Of these, 102 underwent hybrid fetoscopic repair and 44 underwent open hysterotomy repair. Gestational age at the time of surgery was higher in the hybrid group than in the open group (25.1 vs 24.8 weeks; P=.004). Maternal body mass index was lower in the hybrid than in the open group (25.4 vs 27.1 kg/m2; P=.02). The duration of hybrid fetoscopic surgery was significantly longer in the hybrid than in the open group (250 vs 164 minutes; P<.001). There was a significantly lower Clavien-Dindo Grade III complication rate (4.9% vs 43.2%; P<.001) and a significantly lower overall comprehensive maternal complication index (8.7 vs 22.6; P=.021) in the hybrid group than in the open group. Gestational age at delivery was significantly higher in the hybrid group than in the open group (38.1 vs 35.8 weeks; P<.001), and this finding persisted when gestational age at delivery was analyzed using the World Health Organization definitions of preterm delivery. CONCLUSION: Use of our adaptation of the standardized Clavien-Dindo classification to assess the maternal complications associated with in utero open neural tube defect repair provides a new method for objectively assessing different fetal surgical approaches. It also provides a much-needed standardized tool to allow objective comparisons between methods, which can be used when counseling patients. The hybrid open neural tube defect repair was associated with lower rates of maternal adverse events , and later gestational age at delivery compared with the open approach.

Functional Gastrointestinal Disorders and Associated Health Impairment in Individuals with Celiac Disease.

BACKGROUND & AIMS: Individuals with celiac disease (CD) can experience persisting gastrointestinal symptoms despite adhering to a gluten-free diet (GFD). This may be due to functional gastrointestinal disorders (FGIDs), although there is little data on its prevalence and associated factors. METHODS: An online health questionnaire was completed by adult members of Celiac UK in October 2018. The survey included validated questions on Rome IV FGIDs, nongastrointestinal somatic symptoms, anxiety, depression, quality of life, health care use, GFD duration, and its adherence using the celiac dietary adherence test score (with a value ≤ 13 indicating optimal adherence). The prevalence of FGIDs and associated health impairment in the celiac cohort was compared against an age- and sex-matched population-based control group. RESULTS: Of the 863 individuals with CD (73% female; mean age, 61 years), all were taking a GFD for at least 1 year, with 96% declaring that they have been on the diet for 2 or more years (2-4 years, 20%; ≥5 years, 76%). The adherence to a GFD was deemed optimal in 61% (n = 523), with the remaining 39% (n = 340) nonadherent. Those adhering to a GFD fulfilled criteria for a FGID in approximately one-half of cases, although this was significantly lower than nonadherent subjects (51% vs 75%; odds ratio [OR], 2.0; P < .001). However, the prevalence of FGIDs in GFD-adherent subjects was significantly higher than in matched population-based controls (35%; OR, 2.0; P < .001). This was accounted for by functional bowel (46% vs 31%; OR, 1.9; P < .0001) and anorectal disorders (14.5% vs 9.3%; OR, 1.7; P = .02) but not functional esophageal (7.6% vs 6.1%; P = .36) or gastroduodenal disorders (8.7% vs 7.4%; P = .47). Finally, GFD-adherent subjects with FGIDs were significantly more likely than their counterparts without FGIDs to have abnormal levels of anxiety (5% vs 2%; OR, 2.8; P = .04), depression (7% vs 2%; OR, 3.6; P = .01), somatization (31% vs 8%; OR, 5.1; P < .0001), and reduced quality of life (P < .0001). CONCLUSION: One in 2 people with CD, despite having been on a GFD for a number of years and demonstrating optimal adherence, have ongoing symptoms compatible with a Rome IV FGID. This is 2-fold the odds of FGIDs seen in age- and sex-matched controls. The presence of FGIDs is associated with significant health impairment, including psychological comorbidity. Addressing disorders of gut-brain interaction might improve outcomes in this specific group of patients.

Greater Overlap of Rome IV Disorders of Gut-Brain Interactions Leads to Increased Disease Severity and Poorer Quality of Life.

BACKGROUND AND AIMS: Conditions such as irritable bowel syndrome (IBS), functional dyspepsia, and functional constipation are among the prevalent gastrointestinal (GI) disorders classified as disorders of gut-brain interaction (DGBI), which can adversely affect the lives of sufferers. This study aimed to assess the degree and consequences of overlapping DGBI in a large population-based global scale. METHODS: Internet survey data from 54,127 adults (49.1% women) in 26 countries were analyzed by 4 GI anatomic regions (esophageal, gastroduodenal, bowel, and anorectal). The number of DGBI-affected GI regions was assessed, including associations with sex, age, disease severity, quality of life, psychosocial variables, and health care utilization. RESULTS: A total of 40.3% of surveyed individuals met Rome IV criteria for a DGBI. The percentages with 1-4 DGBI-affected GI regions were 68.3%, 22.3%, 7.1%, and 2.3%, respectively. The IBS symptom severity score increased significantly from 1 (207.6) to 4 (291.6) regions, as did non-GI symptom reporting (somatization), anxiety and depression, concerns and embarrassment about bowel function, doctor visits, medications, and abdominal surgeries (all P < .0001). Quality of life decreased with increasing number of DGBI regions (P < .0001). In a logistic mixed model, non-GI symptoms (odds ratio [OR], 1.09; 95% confidence interval [CI], 1.08-1.10), being very vs not concerned (OR, 2.55; 95% CI, 2.27-2.90), being very vs not embarrassed about bowel function (OR, 1.20; 95% CI, 1.08-1.33), and mean number of doctor visits (OR, 1.23; 95% CI, 1.115-1.32) were most strongly associated with number of DGBI regions. CONCLUSIONS: DGBI in multiple anatomic GI regions is associated with increased psychological comorbidity, health care utilization, and IBS severity. Physician awareness of overlap could improve quality of care, prevent unnecessary interventions, and yield more positive health outcomes.

Worldwide Prevalence and Burden of Functional Gastrointestinal Disorders, Results of Rome Foundation Global Study.

BACKGROUND & AIMS: Although functional gastrointestinal disorders (FGIDs), now called disorders of gut-brain interaction, have major economic effects on health care systems and adversely affect quality of life, little is known about their global prevalence and distribution. We investigated the prevalence of and factors associated with 22 FGIDs, in 33 countries on 6 continents. METHODS: Data were collected via the Internet in 24 countries, personal interviews in 7 countries, and both in 2 countries, using the Rome IV diagnostic questionnaire, Rome III irritable bowel syndrome questions, and 80 items to identify variables associated with FGIDs. Data collection methods differed for Internet and household groups, so data analyses were conducted and reported separately. RESULTS: Among the 73,076 adult respondents (49.5% women), diagnostic criteria were met for at least 1 FGID by 40.3% persons who completed the Internet surveys (95% confidence interval [CI], 39.9-40.7) and 20.7% of persons who completed the household surveys (95% CI, 20.2-21.3). FGIDs were more prevalent among women than men, based on responses to the Internet survey (odds ratio, 1.7; 95% CI, 1.6-1.7) and household survey (odds ratio, 1.3; 95% CI, 1.3-1.4). FGIDs were associated with lower quality of life and more frequent doctor visits. Proportions of subjects with irritable bowel syndrome were lower when the Rome IV criteria were used, compared with the Rome III criteria, in the Internet survey (4.1% vs 10.1%) and household survey (1.5% vs 3.5%). CONCLUSIONS: In a large-scale multinational study, we found that more than 40% of persons worldwide have FGIDs, which affect quality of life and health care use. Although the absolute prevalence was higher among Internet respondents, similar trends and relative distributions were found in people who completed Internet vs personal interviews.

Longitudinal CSF Iron Pathway Proteins in Posthemorrhagic Hydrocephalus: Associations with Ventricle Size and Neurodevelopmental Outcomes.

OBJECTIVE: Iron has been implicated in the pathogenesis of brain injury and hydrocephalus after preterm germinal matrix hemorrhage-intraventricular hemorrhage, however, it is unknown how external or endogenous intraventricular clearance of iron pathway proteins affect the outcome in this group. METHODS: This prospective multicenter cohort included patients with posthemorrhagic hydrocephalus (PHH) who underwent (1) temporary and permanent cerebrospinal fluid (CSF) diversion and (2) Bayley Scales of Infant Development-III testing around 2 years of age. CSF proteins in the iron handling pathway were analyzed longitudinally and compared to ventricle size and neurodevelopmental outcomes. RESULTS: Thirty-seven patients met inclusion criteria with a median estimated gestational age at birth of 25 weeks; 65% were boys. Ventricular CSF levels of hemoglobin, iron, total bilirubin, and ferritin decreased between temporary and permanent CSF diversion with no change in CSF levels of ceruloplasmin, transferrin, haptoglobin, and hepcidin. There was an increase in CSF hemopexin during this interval. Larger ventricle size at permanent CSF diversion was associated with elevated CSF ferritin (p = 0.015) and decreased CSF hemopexin (p = 0.007). CSF levels of proteins at temporary CSF diversion were not associated with outcome, however, higher CSF transferrin at permanent CSF diversion was associated with improved cognitive outcome (p = 0.015). Importantly, longitudinal change in CSF iron pathway proteins, ferritin (decrease), and transferrin (increase) were associated with improved cognitive (p = 0.04) and motor (p = 0.03) scores and improved cognitive (p = 0.04), language (p = 0.035), and motor (p = 0.008) scores, respectively. INTERPRETATION: Longitudinal changes in CSF transferrin (increase) and ferritin (decrease) are associated with improved neurodevelopmental outcomes in neonatal PHH, with implications for understanding the pathogenesis of poor outcomes in PHH. ANN NEUROL 2021;90:217-226.

Predicting neurocognitive function in pediatric brain tumor early survivorship: The neurological predictor scale and the incremental validity of tumor size.

BACKGROUND: The Neurological Predictor Scale (NPS) quantifies cumulative exposure to conventional treatment-related neurological risks but does not capture potential risks posed by tumors themselves. This study evaluated the predictive validity of the NPS, and the incremental value of tumor location and size, for neurocognitive outcomes in early survivorship following contemporary therapies for pediatric brain tumors. PROCEDURE: Survivors (N = 69) diagnosed from 2010 to 2016 were administered age-appropriate versions of the Wechsler Intelligence Scales. Hierarchical multiple regressions examined the predictive and incremental validity of NPS score, tumor location, and tumor size. RESULTS: Participants (51% female) aged 6-20 years (M = 13.22, SD = 4.09) completed neurocognitive evaluations 5.16 years (SD = 1.29) postdiagnosis. The NPS significantly predicted Full-Scale Intelligence Quotient (FSIQ; ΔR2  = .079), Verbal Comprehension Index (VCI; ΔR2  = 0.051), Perceptual Reasoning Index (PRI; ΔR2  = 0.065), and Processing Speed Index (PSI; ΔR2  = 0.049) performance after controlling for sex, age at diagnosis, and maternal education. Tumor size alone accounted for a significant amount of unique variance in FSIQ (ΔR2  = 0.065), PRI (ΔR2  = 0.076), and PSI (ΔR2  = 0.080), beyond that captured by the NPS and relevant covariates. Within the full model, the NPS remained a significant independent predictor of FSIQ (ß = -0.249, P = 0.016), VCI (ß = -0.223, P = 0.048), and PRI (ß = -0.229, P = 0.037). CONCLUSIONS: Tumor size emerged as an independent predictor of neurocognitive functioning and added incrementally to the predictive utility of the NPS. Pretreatment disease burden may provide one of the earliest markers of neurocognitive risk following contemporary treatments. With perpetual treatment advances, measures quantifying treatment-related risk may need to be updated and revalidated to maintain their clinical utility.

Prevalence of Rome IV Functional Bowel Disorders Among Adults in the United States, Canada, and the United Kingdom.

BACKGROUND & AIMS: Little is known about the population prevalence or demographic distributions of Rome IV functional bowel disorders (FBDs) or their effects on quality of life. We examined these in a multinational survey. METHODS: We analyzed data from a population-based survey of adults in the United States, Canada, and United Kingdom (5931 valid responders; 49.2% female; mean age, 47.4 years; range, 18-92 years). The survey included the Rome IV Diagnostic Questionnaire, Rome III irritable bowel syndrome (IBS) and constipation questions, and the SF-8 quality of life questionnaire. RESULTS: The prevalence values of census-adjusted Rome IV FBDs were similar among the 3 countries; ranges were: 4.4%-4.8% for IBS, 7.9%-8.6% for functional constipation, 3.6%-5.3% for functional diarrhea, 2.0%-3.9% for functional bloating or distention, 1.1%-1.9% for opioid-induced constipation, 7.5%-10.0% for unspecified FBDs, and 28.6%-31.7% for any Rome IV FBD. FBDs were less common in older individuals, and all except functional diarrhea were more common in women. IBS was only half as prevalent by Rome IV as by Rome III criteria (4.6% vs 9.0% overall), primarily due to higher Rome IV minimum pain frequency. Functional diarrhea and functional constipation were more prevalent by Rome IV than Rome III criteria. Subjects with FBD had significant reductions in quality of life and reported more gastrointestinal doctor consultations than other subjects. CONCLUSIONS: More than 1 in 4 adults in the general population meet the Rome IV criteria for FBDs. These disorders affect quality of life and increase use of gastrointestinal health care. The switch from Rome III to Rome IV criteria reduces the prevalence of IBS by half, but increases the prevalence of functional constipation and functional diarrhea.

Rome IV Functional Gastrointestinal Disorders and Health Impairment in Subjects With Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome.

BACKGROUND & AIMS: Individuals with hypermobility spectrum disorder or hypermobile Ehlers-Danlos Syndrome (HSD/hEDS) are increasingly encountered by gastroenterologists and pose complex clinical challenges. Uncontrolled studies have found functional gastrointestinal disorders (FGIDs) to be common in patients with HSD/hEDS. Some patients have somatic symptoms (medically unexplained symptoms) that might affect FGIDs. We performed a case-control study to determine the prevalence of and factors associated with Rome IV FGIDs in subjects with HSD/hEDS compared with age- and sex- matched population-based controls. METHODS: An online general health survey was completed by 603 individuals with HSD/hEDS in October 2018 (cases) and 603 matched individuals from the population of the United Kingdom (controls) in 2015. The mean participant age was 39 yrs, and 96% were women. The survey included questions about Rome IV FGIDs, non-GI and non-musculoskeletal somatic symptoms (maximum number, 10), quality of life, medical history and healthcare use. The prevalence of FGIDs was compared between cases and controls, with subsequent logistic regression models - adjusting for the number of somatic symptoms - used to determine the associations for FGIDs in HSD/hEDS compared with controls. RESULTS: Nearly all subjects (98%) with HSD/hEDS fulfilled symptom-based criteria for 1 or more Rome IV FGIDs, compared with 47% of controls (P < .0001). The gastrointestinal regions most commonly affected by FGIDs in individuals with HSD/hEDS and control subjects were the bowel (90% vs 40% of controls), gastroduodenal (70% vs 13% of controls), esophageal (56% vs 6% of controls), and anorectal (53% vs 9% of controls); P < .0001. A higher proportion of subjects with HSD/hEDS had FGIDs in 2 or more regions (84% vs 15% of controls; P < .0001). Subjects with HSD/hEDS also reported a significantly higher number of non-GI and non-musculoskeletal somatic symptoms (7.1 vs 3.3 in controls), lower quality of life, and greater healthcare use, including abdominal surgeries and medication use (for example, 84% used analgesics compared with 29% of controls). Almost 40% of subjects with HSD/hEDS reported a diagnosis of chronic fatigue syndrome and/or fibromyalgia. Following adjustments for somatic symptoms, the association for FGIDs in subjects with HSD/hEDS was reduced by as much as 4-fold and in some instances was eliminated. CONCLUSIONS: In a large case-control study of persons with HSD/hEDS, almost all of the cases met criteria for Rome IV FGIDs, incurred considerable health impairment, and had high healthcare use. Patients with HSD/hEDS frequently have somatic symptoms that should be treated to reduce the high burden of gastrointestinal illness in this population.

ACG Clinical Guidelines: Management of Benign Anorectal Disorders.

Benign anorectal disorders of structure and function are common in clinical practice. These guidelines summarize the preferred approach to the evaluation and management of defecation disorders, proctalgia syndromes, hemorrhoids, anal fissures, and fecal incontinence in adults and represent the official practice recommendations of the American College of Gastroenterology. The scientific evidence for these guidelines was assessed using the Grading of Recommendations Assessment, Development and Evaluation process. When the evidence was not appropriate for Grading of Recommendations Assessment, Development and Evaluation, we used expert consensus to develop key concept statements. These guidelines should be considered as preferred but are not the only approaches to these conditions.

Two-port, exteriorized uterus, fetoscopic meningomyelocele closure has fewer adverse neonatal outcomes than open hysterotomy closure.

BACKGROUND: In utero closure of meningomyelocele using an open hysterotomy approach is associated with preterm delivery and adverse neonatal outcomes. OBJECTIVE: This study compared the neonatal outcomes in in utero meningomyelocele closure using a 2-port, exteriorized uterus, fetoscopic approach vs the conventional open hysterotomy approach. STUDY DESIGN: This retrospective cohort study included all consecutive patients who underwent in utero meningomyelocele closure using open hysterotomy (n=44) or a 2-port, exteriorized uterus, fetoscopic approach (n=46) at a single institution between 2012 and 2020. The 2-port, exteriorized uterus, fetoscopic closure was composed of the following 3 layers: a bovine collagen patch, a myofascial layer, and a skin. The frequency of respiratory distress syndrome and a composite of other adverse neonatal outcomes, including retinopathy of prematurity, periventricular leukomalacia, and perinatal death, were compared between the study groups. Regression analyses were performed to determine any association between the fetoscopic closure and adverse neonatal outcomes, adjusted for several confounders, including gestational age of <37 weeks at delivery. RESULTS: The fetoscopic closure was associated with a lower rate of respiratory distress syndrome than the open hysterotomy closure (11.5% [5 of 45] vs 29.5% [13 of 44]; P=.037). The proportion of neonates with a composite of other adverse neonatal outcomes in the fetoscopic group was half of that observed patients in the open hysterotomy group; however, this difference did not reach statistical significance (4.3% [2 of 46] vs 9.1% [4 of 44]; P=.429). Here, regression analysis has demonstrated that fetoscopic meningomyelocele closure was associated with a lower risk of respiratory distress syndrome (adjusted odds ratio, 0.23; 95% confidence interval, 0.06-0.84; P=.026) than open hysterotomy closure. CONCLUSION: In utero meningomyelocele closure using a 2-port, exteriorized uterus, fetoscopic approach was associated with a lower risk of respiratory distress syndrome than the conventional open hysterotomy meningomyelocele closure.

Experience of 300 cases of prenatal fetoscopic open spina bifida repair: report of the International Fetoscopic Neural Tube Defect Repair Consortium.

BACKGROUND: The multicenter randomized controlled trial Management of Myelomeningocele Study demonstrated that prenatal repair of open spina bifida by hysterotomy, compared with postnatal repair, decreases the need for ventriculoperitoneal shunting and increases the chances of independent ambulation. However, the hysterotomy approach is associated with risks that are inherent to the uterine incision. Fetal surgeons from around the world embarked on fetoscopic open spina bifida repair aiming to reduce maternal and fetal/neonatal risks while preserving the neurologic benefits of in utero surgery to the child. OBJECTIVE: This study aimed to report the main obstetrical, perinatal, and neurosurgical outcomes in the first 12 months of life of children undergoing prenatal fetoscopic repair of open spina bifida included in an international registry and to compare these with the results reported in the Management of Myelomeningocele Study and in a subsequent large cohort of patients who received an open fetal surgery repair. STUDY DESIGN: All known centers performing fetoscopic spina bifida repair were contacted and invited to participate in a Fetoscopic Myelomeningocele Repair Consortium and enroll their patients in a registry. Patient data entered into this fetoscopic registry were analyzed for this report. Fisher exact test was performed for comparison of categorical variables in the registry with both the Management of Myelomeningocele Study and a post-Management of Myelomeningocele Study cohort. Binary logistic regression analyses were used to assess the registry data for predictors of preterm birth at <30 weeks' gestation, preterm premature rupture of membranes, and need for postnatal cerebrospinal fluid diversion in the fetoscopic registry. RESULTS: There were 300 patients in the fetoscopic registry, 78 in the Management of Myelomeningocele Study, and 100 in the post-Management of Myelomeningocele Study cohort. The 3 data sets showed similar anatomic levels of the spinal lesion, mean gestational age at delivery, distribution of motor function compared with upper anatomic level of the lesion in the neonates, and perinatal death. In the Management of Myelomeningocele Study (26.16±1.6 weeks) and post-Management of Myelomeningocele Study cohort (23.3 [20.2-25.6] weeks), compared with the fetoscopic registry group (23.6±1.4 weeks), the gestational age at surgery was lower (comparing fetoscopic repair group with the Management of Myelomeningocele Study; P<.01). After open fetal surgery, all patients were delivered by cesarean delivery, whereas in the fetoscopic registry approximately one-third were delivered vaginally (P<.01). At cesarean delivery, areas of dehiscence or thinning in the scar were observed in 34% of cases in the Management of Myelomeningocele Study, in 49% in the post-Management of Myelomeningocele Study cohort, and in 0% in the fetoscopic registry (P<.01 for both comparisons). At 12 months of age, there was no significant difference in the number of patients requiring treatment for hydrocephalus between those in the fetoscopic registry and the Management of Myelomeningocele Study. CONCLUSION: Prenatal and postnatal outcomes up to 12 months of age after prenatal fetoscopic and open fetal surgery repair of open spina bifida are similar. Fetoscopic repair allows for having a vaginal delivery and eliminates the risk of uterine scar dehiscence, therefore protecting subsequent pregnancies of unnecessary maternal and fetal risks.

Gadolinium is not necessary for surveillance MR imaging in children with chiasmatic-hypothalamic low-grade glioma.

BACKGROUND: Patients with chiasmatic-hypothalamic low-grade glioma (CHLGG) have frequent MRIs with gadolinium-based contrast agents (GBCA) for disease monitoring. Cumulative gadolinium deposition in the brains of children is a potential concern. The purpose of this study is to evaluate whether MRI with GBCA is necessary for determining radiographic tumor progression in children with CHLGG. METHODS: Children who were treated for progressive CHLGG from 2005 to 2019 at Texas Children's Cancer Center were identified. Pre- and post-contrast MRI sequences were separately reviewed by one neuroradiologist who was blinded to the clinical course. Three dimensional measurements and tumor characteristics were evaluated. Radiographic progression was defined as a 25% increase in size (product of two largest dimensions) compared with baseline or best response after initiation of therapy. RESULTS: A total of 28 patients with progressive CHLGG were identified with a total of 683 MRIs with GBCA reviewed (mean 24 MRIs/patient; range, 11-43 MRIs). Radiographic progression was observed 92 times, 91 (99%) on noncontrast and 90 (98%) on contrast imaging. Sixty-seven progressions necessitating management changes were identified in all (100%) noncontrast sequences and 66 (99%) contrast sequences. Tumor growth > 2 mm in any dimension was identified in 184/187 (98%) noncontrast and 181/187 (97%) with contrast imaging. Metastatic tumors were better visualized on contrast imaging in 4/7 (57%). CONCLUSION: MRI without GBCA effectively identifies patients with progressive disease. When imaging children with CHLGG, eliminating GBCA should be considered unless monitoring patients with metastatic disease.

Prevalence of high-risk bladder categorization with prenatal and postnatal myelomeningocele repair types.

INTRODUCTION: Urologic substudies of prenatal myelomeningocele (MMC) closure have focused primarily on continence without significant clinical benefit. Fetoscopic MMC repair (FMR) is a newer form of prenatal intervention and touts added benefits to the mother, but urological outcomes have yet to be analyzed. We set out to focus on bladder safety rather than continence and examined bladder outcomes with different prenatal MMC repairs (FMR and prenatal open [POMR]) and compared bladder-risk-categorization to traditional postnatal repair (PSTNR). METHODS: An IRB-approved retrospective analysis of all patients undergoing all forms of MMC repairs with inclusion and exclusion criteria based on the MOMS trial was performed. Bladder safety assessment required initial urodynamic studies (UDS), renal bladder ultrasound (RBUS), and/or voiding cystourethrogram (VCUG) within the 1st year of life. Follow-up analyses within the cohorts required follow-up studies within 18 months after initial evaluations. Outcomes assessed included bladder-risk-categorization based on the CDC UMPIRE study (high, intermediate, and safe), hydronephrosis (HN), and vesicoureteral reflux (VUR). A single reader evaluated each UDS. RESULTS: Initial UDS in 93 patients showed that the prevalence of high-risk bladders were 35% FMR versus 36% PSTNR and 60% POMR. Follow-up UDS showed only 8% of FMR were high-risk compared to 35% POMR and 36% PSTNR. Change from initial to follow-up bladder-risk-category did not reach significance (p = .0659); however, 10% PSTNR worsened to high-risk on follow-up, compared to none in either prenatal group. Subanalysis of follow-up UDS between the prenatal cohorts also was not significant (p = .055). Only 8% of FMR worsened or stayed high-risk compared to 35% with POMR (p = .1). HN was significantly different at initial and subsequent follow up between the groups with the least in the FMR group. CONCLUSIONS: Early outcome UDS analyses demonstrated lower incidence of high-risk bladders in FMR patients with a trend toward clinically significant improvement compared to POMR in regard to all evaluated metrics. Larger, prospective, confirmatory studies are needed to further evaluate the potential benefits on FMR on bladder safety and health.

Is ventriculomegaly and hindbrain herniation seen before and after prenatal neural tube defect repair associated with a worse functional level than anatomical level at birth?

OBJECTIVE: To determine if the evaluation of the fetal ventricular system and hindbrain herniation (HBH) is associated with motor outcome at birth in prenatally repaired open neural tube defect (NTD). METHODS: Retrospective cohort study of 47 patients with NTD who underwent prenatal repair (17 fetoscopic; 30 open-hysterotomy). At referral and 6 weeks postoperatively, the degree of HBH, ventricular atrial widths and ventricular volume were evaluated by MRI. Head circumference and ventricular atrial widths were measured on ultrasound at referral and during the last ultrasound before delivery. Anatomic level of the lesion (LL) was determined based on the upper bony spinal defect detected by ultrasound. We considered the functional level as worse than anatomical level at birth when the motor level was equal or worse than the anatomical LL. RESULTS: 26% (12/47) of the cases showed worse functional level than anatomical level at birth. Having a HBH below C1 at the time of referral was associated with a worse functional level than anatomical level at birth (OR = 9.7, CI95 [2.2-42.8], p < 0.01). None of the other brain parameters showed a significant association with motor outcomes at birth. CONCLUSIONS: HBH below C1 before surgery was associated with a worse functional level than anatomical level at birth.