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Purpose: Rett syndrome is a rare neurodevelopmental disorder associated with methyl CpG binding protein 2 (MECP2) gene mutations. We aimed to characterize the long-term nutritional and gastrointestinal course of Rett syndrome in a large national patient population., Methods: We conducted a retrospective cohort study of patients followed during 1991-2021 at a national center for Rett syndrome. The data retrieved included clinical features, laboratory and genetic analyses. Continuous anthropometric measurements were calculated for the closest visit to the median ages: 2.5, 7.5, 12.5 and 17.5 years. Kaplan Meier curves were used to describe the appearance of clinical manifestations during the follow up period. Generalized estimating equation models were used to compare repeated measurements., Results: Included were 141 patients (139 females), the median age at the first visit was 3.2 years (interquartile range [IQR] 2.3-5.7), and the median length of follow-up was 94.5 months (IQR 28.6-153.3). Mean weight, height and BMI Z-scores were -1.09, -1.03 and -0.56, respectively, at median age 2.5 years; and deteriorated to -3.95, -3.01 and -1.19, respectively, at median age 17.5 years (P < 0.001). Gastrointestinal features included constipation (47.5%, 67/141) and chewing/feeding difficulties (20%, 28/141) at presentation; and an additional 47 (33.3%) and 24 (17.0%), respectively, during follow up. Twenty-eight patients (20%) developed aerophagia and 44 (31.2%) gastroesophageal reflux. No relation was found between genetic mutation types and clinical manifestations. GI manifestations were more prevalent in patients with typical form of Rett syndrome., Conclusions: Anthropometric parameters were shown to deteriorate with age, regardless of the specific genetic mutation. Chewing/feeding difficulties, constipation and gastroesophageal reflux are common in Rett patients., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: Disorders of primary peristalsis are associated with a higher percent time pH <4 in the esophagus suggesting poor acid clearance. However, there are no studies of secondary peristalsis and its relationship to microscopic or erosive esophagitis. The goal of this study was to determine the relationship between secondary peristalsis using functional luminal imaging probes (EndoFLIP) and the presence or absence of esophagitis., Methods: We reviewed the endoscopic and EndoFLIP 2.0 tracings for 103 consecutive patients including those with a history of upper gastrointestinal surgery undergoing upper endoscopy. Esophagogastric junction (EGJ) distensibility and diameter, repetitive antegrade contraction (RACs) presence and frequency, and occlusive diameters were measured. Measurements were then compared between patients with and without microscopic and/or erosive esophagitis. Means were compared using t-tests. Proportions were compared using Chi-Squared analyses., Key Results: One hundred and three patients were included (mean age: 14.4 + 6.4 years). Ten patients had erosive esophagitis and 28 patients had microscopic esophagitis. Erosive and microscopic esophagitis were associated with abnormal or absent of RACs (p < 0.001). Occlusive diameters were higher in patients with esophagitis compared to those without (p < 0.001). There was no relationship between EGJ distensibility and the presence of erosive or microscopic esophagitis (p = 0.4). The absence of RACs was the only independent predictor of esophagitis (erosive and microscopic), after controlling for age, proton pump inhibitors (PPI) use and EGJ distensibility (p < 0.001)., Conclusions & Inferences: Abnormal secondary peristalsis is associated with microscopic and gross esophagitis, suggesting that EndoFLIP should be part of the diagnostic algorithm for esophagitis., (© 2024 John Wiley & Sons Ltd.)

Anorectal manometry is one of the most frequently performed gastrointestinal motility studies in children. It is an important study in diagnosing Hirschsprung disease (HD). These procedures can be uncomfortable, painful and emotionally distressing. Nitrous oxide or midazolam are the only pharmacologic options available, as clinical experience suggests that they do not alter manometry readings. Our study was designed to determine whether Dexmedetomidine (DEX) could provide adequate sedation without disrupting anal and rectal pressure. The effect of DEX on anorectal function has never been studied in children. This prospective study recorded anorectal manometry (ARM) measurements prior to the administration of DEX and then repeated the measurements at 1 and 5 min after DEX. The main ARM measurements included resting intra-anal sphincter pressure (IASP) and the presence and characteristics of the recto-anal inhibitory reflex (RAIR). DEX was administered as a bolus followed by a continuous infusion. Twenty patients were included (60% female; mean age 10.8 ± 4.6 years). The RAIR became absent in 2/16 (12.5%) patients after DEX administration. DEX may alter physiologic ARM and IASP recordings necessary to diagnose gastrointestinal medical conditions.

Background: Several studies have proposed models to predict disease outcomes in paediatric ulcerative colitis (UC), notably PROTECT, Schechter and PIBD-ahead, but none has been validated by external cohorts AIM: To explore these models in a prospective multicentre inception cohort METHODS: Children newly diagnosed with UC in 17 centres were followed at disease onset and 3 and 12 months thereafter, as well as at last visit. Outcomes included steroid-free remission (SFR) and acute severe colitis (ASC)., Results: Of the 223 included children, 74 (34%), 97 (43%) and 52 (23%) presented with mild, moderate and severe disease, respectively. SFR rate was 35% at 3 months and 47% at 12 months (62% of those with mild disease at diagnosis vs. 41% in moderate-severe disease; p = 0.01). Thirty-six (16%) children developed ASC during the first month after diagnosis, and 53 (24%) during the first year. The AUC of the PROTECT model for predicting SFR at 3 and 12 months was 0.78 [95% CI 0.65-0.92] and 0.57 [95% CI 0.47-0.66], respectively. The sensitivity/specificity/PPV/NPV of Schechter's criteria to predict sustained SFR at 12 months was 50%/60%/35%/74%. ASC was predicted only by the PUCAI score at diagnosis and at 3 months., Conclusions: The PROTECT model had a good predictive utility for SFR at 3 months, but not at 12 months. The other predictive models did not achieve sufficient accuracy, which was far from that reported in the original studies. This highlights the necessity for external validation of any prediction model prior to its implementation into clinical practice., (© 2023 The Authors. Alimentary Pharmacology & Therapeutics published by John Wiley & Sons Ltd.)

Objectives: Adult studies suggest that patients with isolated colonic Crohn disease (L2 CD) exhibit unique characteristics differentiating them from patients with ileo-caecal (L1) CD and ulcerative colitis (UC). We aimed to characterize clinical features and outcomes of paediatric patients with L2., Methods: Retrospective data was collected through the Porto Inflammatory Bowel Disease group of the European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) on Paediatric patients with L2, L1 or UC at different time-points. Outcome measures included time to first flare, hospital admissions, initiation of anti-tumor necrosis factor-alpha (TNFα) drug, stricture and surgery., Results: Three hundred patients were included: 102 L1, 94 L2 and 104 UC. Rates of hematochezia at presentation were 14.7%, 44.7% and 95.2%, while rates of fever were 12.7%, 26.6% and 2.9%, for patients with L1, L2 and UC, respectively (P < 0.001 for all comparisons). Skip lesions were identified in 65% of patients with L2, and granulomas in 36%, similar to L1 patients. Rates of anti-Saccharomyces cerevisiae antibodies (ASCA) and perinuclear antineutrophil cytoplasmic (pANCA) positivity significantly differed between the three groups: 25.4% and 16.7% for patients with L2, compared with 55.2% and 2.3%, and 1.8% and 52.9% for patients with L1 and UC, respectively. Response rates to exclusive enteral nutrition were comparable between L1 and L2 (78.3-82.4%), as was the response to oral steroids (70.4-76.5%) in the three groups. While times to first flare and admission were similar between groups, patients with L1 were commenced on anti-TNFα earlier. Moreover, stricturing phenotype and need for colectomy were very rare in patients with L2., Conclusions: Significant differences are observed in the clinical presentation and outcomes of Paediatric patients with L2, compared to patients with L1 and UC., Competing Interests: The authors report no conflicts of interest., (Copyright © 2021 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.)

Background: Adequate dietary habits and physical activity during childhood and adolescence may promote growth and cognitive development and contribute to the prevention of chronic disease in later life. School is considered an important social environment that can promote healthy eating habits and life-style changes., Objectives: To evaluate the effects of a school-based intervention on nutritional knowledge, eating habits, and physical activity of adolescents., Methods: We conducted a prospective questionnaire-based study. Anonymous questionnaires were administered at the beginning of the academic year (September 2014) in one high school. During the following year, vending machines containing milk products were installed within the school facility, and students were given two informative nutrition lectures regarding proper nutrition for age, calcium requirement and importance, and physical activity. One active sports day was initiated. At the beginning of the following academic year (September 2015), the students completed the same questionnaires., Results: The study was comprised of 330 teenagers, mean age 15.1 ± 1.39 years, 53% males. Response rate was 83.6% ± 0.4% to multiple choice questions, 60.7% ± 0.5% to multiple section tables, and 80.3% ± 0.9% to open questions. Post-intervention, respondents reported an increase in eating breakfast (57% vs. 47.5%, P = 0.02) and a decrease in purchasing food at school (61.6% vs. 54.3%, P = 0.03). No changes were observed in consumption of milk products, knowledge regarding calcium and vegetable consumption, or sports activities., Conclusions: Short-term high school-based interventions may lead to improvements in eating habits but are not sufficient for changing nutritional knowledge and physical activity.

Background: The number of investigative esophagogastroduodenoscopies (EGD) in children has increased over several decades, despite their unclear diagnostic yields., Objectives: To evaluate the indications for performing EGD, their diagnostic yields, and consequences on pediatric patient management., Methods: A retrospective chart review was performed of consecutive pediatric patients aged 0-18 years, who underwent EGD between January and August 2014., Results: During the study period, 547 EGD were performed on 478 children. The most frequent indications were suspected celiac disease, chronic non-specific abdominal pain, persistent Helicobacter pylori infection, and gastrointestinal hemorrhage. The yield of the diagnostic EGD was 59.2%, and the most common new diagnoses were celiac disease (28%), Helicobacter pylori-positive gastritis (16.5%), and Crohn's disease (5.4%). Of the patients with documented follow-up, 74.1% reported improved symptoms. Procedures performed for chronic unexplained abdominal pain had significantly lower yields (26.2%) and only 39.3% improved at follow-up., Conclusions: Our findings suggest a general high diagnostic yield for EGD in pediatric patients, stemming mainly from patients in whom a specific condition was suspected a priori. However, the role of the procedure in the diagnosis and management of non-specific gastrointestinal complaints was minor suggesting that EGD may be superfluous for some of these patients.

Hereditary angioedema (HAE) may manifest with swelling of the face, extremities, and upper airways. Gastrointestinal symptoms are also common and may include abdominal pain, vomiting, and diarrhea. However, pancreatic involvement is rare and has been reported only in a few adults with previously diagnosed HAE. We describe a 6-year-old boy who presented with recurrent severe abdominal pain accompanied by an elevation in pancreatic enzyme levels, without subcutaneous or cutaneous angioedema. His symptoms had begun 18 months earlier, and he was hospitalized several times before the present admission with a diagnosis of acute pancreatitis. More comprehensive analysis yielded low levels of C2, C4, CH50, and C1 esterase inhibitor, establishing the diagnosis of HAE. One year after diagnosis, swelling of the extremities appeared for the first time. This is the first report of a child in whom pancreatic disease was the presenting symptom of HAE. HAE should be included in the differential diagnosis of recurrent pancreatitis in children., (Copyright © 2016 by the American Academy of Pediatrics.)

Background/aim: This investigation assessed the effects of dental trauma on the perception of pain and quality of life (QoL) of patient-parent pairs for a year following severe injuries., Sample: A visual analogue scale (VAS) was used to assess the pain of injury and treatment for 27 individuals 8-20 years and their parents. The Child Oral Health Quality of Life (COHQoL) survey was used to assess the effects of dental injuries on the QoL of 23 children aged 8-14 and their parents., Results: Mean VAS scores revealed that all patients and parents perceived the pain of initial injury to be significantly greater than pain of splint removal (P < or = 0.05) and that pain decreased in a stepwise manner from injury through emergency treatment to splint removal. The COHQoL questionnaire demonstrated a profound and continuing effect on children and their parent's QoL following severe dental injury. The initial parental COHQoL score was significantly greater than the 12-month score (P < or = 0.05) in both 8-10 and 11-14- year-olds. The COHQoL results indicated a measurable reduction in the QoL of patients and parents was still present 12-months after the injuries. At the end of one-year children were still affected by the social and well-being aspects of the injury yet parents exclusively reported that one-year effects were limited to their children's oral symptoms and functional limitations., Conclusions: Severe dental injuries produce initial and ongoing pain. Detrimental effects on the QoL of both children and parents are still present at one-year and these long-term effects are different for children and parents.

Bouma's law of crowding predicts an uncrowded central window through which we can read and a crowded periphery through which we cannot. The old discovery that readers make several fixations per second, rather than a continuous sweep across the text, suggests that reading is limited by the number of letters that can be acquired in one fixation, without moving one's eyes. That "visual span" has been measured in various ways, but remains unexplained. Here we show (1) that the visual span is simply the number of characters that are not crowded and (2) that, at each vertical eccentricity, reading rate is proportional to the uncrowded span. We measure rapid serial visual presentation (RSVP) reading rate for text, in both original and scrambled word order, as a function of size and spacing at central and peripheral locations. As text size increases, reading rate rises abruptly from zero to maximum rate. This classic reading rate curve consists of a cliff and a plateau, characterized by two parameters, critical print size and maximum reading rate. Joining two ideas from the literature explains the whole curve. These ideas are Bouma's law of crowding and Legge's conjecture that reading rate is proportional to visual span. We show that Legge's visual span is the uncrowded span predicted by Bouma's law. This result joins Bouma and Legge to explain reading rate's dependence on letter size and spacing. Well-corrected fluent observers reading ordinary text with adequate light are limited by letter spacing (crowding), not size (acuity). More generally, it seems that this account holds true, independent of size, contrast, and luminance, provided only that text contrast is at least four times the threshold contrast for an isolated letter. For any given spacing, there is a central uncrowded span through which we read. This uncrowded span model explains the shape of the reading rate curve. We test the model in several ways. We use a "silent substitution" technique to measure the uncrowded span during reading. These substitutions spoil letter identification but are undetectable when the letters are crowded. Critical spacing is the smallest distance between letters that avoids crowding. We find that the critical spacing for letter identification predicts both the critical spacing and the span for reading. Thus, crowding predicts the parameters that characterize both the cliff and the plateau of the reading rate curve. Previous studies have found worrisome differences across observers and laboratories in the measured peripheral reading rates for ordinary text, which may reflect differences in print exposure, but we find that reading rate is much more consistent when word order is scrambled. In all conditions tested--all sizes and spacings, central and peripheral, ordered and scrambled--reading is limited by crowding. For each observer, at each vertical eccentricity, reading rate is proportional to the uncrowded span.

Verghese and Stone (1995) showed that reducing the perceived number of objects by grouping also reduces objective performance. Shams, Kamitani, and Shimojo (2000) showed that a single flash accompanied by multiple beeps appears to flash more than once. We show that objective orientation-discrimination performance depends solely on the perceived number of flashes, independent of the actual number of beeps and flashes. Thus the unit of perceptual analysis seems to be a perceived event, independent of how it is induced.