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Aim: Transabdominal rectal ultrasound (TRU) is used to measure transverse rectal diameter (TRD) in order to diagnose functional constipation (FC) and megarectum, and to evaluate treatment. The proposed cut-off value is 3.0 cm. Currently, no standardised values exist for children below the age of 4. We used repeated TRUs to establish reference TRD values in healthy infants and to describe rectal diameter in infants with FC., Methods: This prospective observational cohort study enrolled healthy term babies from a maternity department. TRD measurements were taken at 2 and 12 months of age, and questionnaires completed in interviews helped diagnose FC according to Rome III criteria., Results: Two hundred TRUs were performed on 110 infants (62 males). In infants without FC anytime, the mean TRD at 2 months was 1.56 (SD 0.32) cm and at 12 months 1.78 (0.47) cm, while the 95th percentiles were 2.26 and 2.64 cm, respectively. In 77 infants with two TRUs, the mean increase was 0.21 cm (95% confidence interval: 0.099-0.318). Thirteen infants were diagnosed with FC during the study period. At 2 and 12 months of age, there was no difference in TRD between infants with and without FC., Conclusion: TRD increased from 2 to 12 months. We suggest 2.3 cm as an upper limit for normal TRD at 2 months and 2.6 cm at 12 months. Infants diagnosed with FC did not have a greater TRD than infants without, either before or after treatment. Further studies are needed to evaluate the usefulness of TRU in infants with FC or megarectum., (© 2023 The Authors. Journal of Paediatrics and Child Health published by John Wiley & Sons Australia, Ltd on behalf of Paediatrics and Child Health Division (The Royal Australasian College of Physicians).)

Aim: During infancy bowel habits change. Most infants with gastrointestinal problems have a functional gastrointestinal disorder (FGID), a major reason for visiting paediatricians. This study aims to provide data on stool frequency and consistency during the first year, prevalence rates for functional constipation (FC) and to establish associations with relevant demographic data. The occurrence of infant colic (IC) and infant dyschezia (ID) was also reported., Methods: This prospective observational birth-cohort study enrolled 122 healthy full-term infants. Questionnaires were completed at 2 weeks and 2, 6 and 12 months., Results: Stool frequency decreased with age and consistency changed, with fewer runny stools. At 2 weeks, 24.3% had at least one of the studied FGID. FC was found in 2.6%-14.3% (up to 12 months), IC was found in 4.9%-3.4% (up to 2 months) and ID in 22.1%-3.9% (up to 6 months). Infants with an FGID had a lower weight and more healthcare visits than infants without. Breastfeeding and a high percentage of runny stools at 2 weeks of age decreased the odds of developing FC., Conclusion: Data on bowel habits and the prevalence of FC, IC and ID are presented. FGID during infancy is common and affects children's well-being, while their families need support and advice., (© 2023 The Authors. Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.)

Vesicoureteral reflux (VUR) is a common urological problem in children and its hereditary nature is well recognised. However, despite decades of research, the aetiological factors are poorly understood and the genetic background has been elucidated in only a minority of cases. To explore the molecular aetiology of primary hereditary VUR, we performed whole-exome sequencing in 13 large families with at least three affected cases. A large proportion of our study cohort had congenital renal hypodysplasia in addition to VUR. This high-throughput screening revealed 23 deleterious heterozygous variants in 19 candidate genes associated with VUR or nephrogenesis. Sanger sequencing and segregation analysis in the entire families confirmed the following findings in three genes in three families: frameshift LAMC1 variant and missense variants of KIF26B and LIFR genes. Rare variants were also found in SALL1, ROBO2 and UPK3A. These gene variants were present in individual cases but did not segregate with disease in families. In all, we demonstrate a likely causal gene variant in 23% of the families. Whole-exome sequencing technology in combination with a segregation study of the whole family is a useful tool when it comes to understanding pathogenesis and improving molecular diagnostics of this highly heterogeneous malformation., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2022 Bartik et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Background: In the last decades, the average age for toilet training has increased in the western world. It is suggested that the postponed initiation of toilet training is a contributing factor to problems related to bowel and bladder control. Functional gastrointestinal and urinary tract disorders are prevalent in childhood, causing suffering in affected children and for their families, and consuming healthcare resources. To evaluate whether assisted infant toilet training can prevent functional gastrointestinal and urinary tract disorders in young children, we are conducting a randomized intervention study with a 4-year follow-up., Methods: This randomized two-armed intervention study will include 268 Swedish infants recruited at six child healthcare centers in Region Dalarna located in the central part of Sweden. The intervention entails parents being instructed and practicing assisted infant toilet training with their child. Children are randomized to start assisted infant toilet training at 0-2 months or at 9-11 months of age. The primary objective is to determine the efficacy of assisted infant toilet training initiated at 0-2 months on the prevalence of functional gastrointestinal disorders (defined as infant colic, infant dyschezia and/or functional constipation) up to the age of 9 months. Secondary objectives are to evaluate whether assisted toilet training initiated during the first year of life reduce the prevalence of functional gastrointestinal disorders (defined as functional constipation, gastrointestinal symptoms and/or stool toileting refusal) and urinary tract disorders (defined as bladder dysfunction and/or urinary tract infections) up to the age of 4 years. Furthermore, infant-to-mother attachment, parental stress, the toilet training process and overall parental experiences will be evaluated/explored., Discussion: This protocol article presents the rationale and design of a randomized two-armed intervention study that will determine the efficacy of assisted infant toilet training on functional gastrointestinal disorders up to the age of 9 months. Furthermore, the study will evaluate whether assisted infant toilet training during the first year of life can prevent functional gastrointestinal and urinary tract disorders in children up to 4 years of age. If effective, assisted infant toilet training could be recommended in child healthcare settings and new evidence-based guidelines on infant toilet training could be implemented., Trial Registration: The study protocol was retrospectively registered at ClinicalTrials. gov  ( NCT04082689 ), initial release June 12th, 2019)., (© 2022. The Author(s).)

Objectives: Functional gastrointestinal disorders (FGD) are common during early childhood. In severe defecation disorders, anorectal manometry (AM) is done to exclude aganglionosis. High-resolution anorectal manometry (HRAM) can probably improve diagnostics but normative data in infants are scarce. This study aims to provide HRAM data in healthy infants overall and in subgroups of infants with FGD, defined as functional constipation (FC), infant colic (IC), and infant dyschezia (ID) (ROME 3 criteria)., Methods: This prospective observational cohort study enrolled healthy term infants, having HRAM at 2 and 6 months, using a water-perfused pediatric anorectal silicone catheter. Data were provided for presence of anorectal waves and recto anal inhibitory reflex (RAIR), volume needed to elicit RAIR and anal resting pressure (ARP). Questionnaires at 2 and 6 months identified subjects with FC, IC, and ID., Results: A total of 187 HRAM investigations were done in 107 infants, without any complications. Normal RAIR was found in all, at least on one occasion. Mean ARP increased between 2- and 6-month investigations in infants without FGD. No other differences in HRAM data could be seen between infants with or without an FGD. At 2 months FC, IC, and ID were seen (2%, 4%, and 17%), whereas at 6 months only FC and ID were seen (7% and 1%)., Conclusion: We can provide data on HRAM in infants at 2 and 6 months of age. When performing repeated HRAM in healthy infants, RAIR was found in all subjects. HRAM is safe, easy tolerable, and can be recommended in infants with or without FGD., Competing Interests: The authors report no conflicts of interest., (Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.)

Vesicoureteral reflux (VUR) is a congenital malformation carrying a high risk of recurrent urinary tract infections (UTI) and, at worst, chronic renal failure. Familial clustering implies a genetic etiology, but studies during the past few decades have demonstrated a causal gene variant in <10% of patients with VUR. The aim of the present study was to search for fully or partially shared ancestral haplotypes in 14 families from south-western Sweden with at least three affected members. High-density single nucleotide polymorphism microarray was used for genotyping prior to analysis with a compatibility matching method developed in-house, and the analysis of copy number variations (CNV). No single unique haplotype was revealed to be shared by the families, thereby excluding a common ancestry and founder mutations as a probable cause of VUR. After evaluation of haplotypes shared by subsets of families, a haplotype shared by nine families was found to be of particular interest. This haplotype, located at chromosomal region 4q21.21, harbours two tentative candidate genes (bone morphogenetic protein 3 and fibroblast growth factor 5), both expressed in metanephros and with known functions during nephrogenesis. As to CNV, only one family had a specific CNV shared by all affected members. This was a focal deletion at 5q31.1 including follistatin-like 4, a gene without a previous known connection to VUR. These data demonstrated the genetic heterogeneity of VUR and indicated that an interaction of environmental and genetic factors, including non-coding and epigenetic regulators, all contribute to the complexity of VUR., Competing Interests: The authors declare that they have no competing interests., (Copyright: © Bartik et al.)