Coeliac disease (CD) affects almost of 1% of the population, yet remains undiagnosed in the majority. Though the demonstration of enteropathy in duodenal biopsy was traditionally the essential criterion for the diagnosis of coeliac disease, the guidelines published by the European Society of Paediatric Gastroenterology and Nutrition (ESPGHAN) in 2012, and revised in 2020, paved the way to a no-biopsy approach to diagnosis. In a select group of children meeting certain criteria, a definitive diagnosis of CD can now be made without the need for duodenal biopsies. This is being increasingly applied in clinical practice. It is well established that untreated coeliac disease is associated with several chronic adverse health conditions. At present, a strict gluten-free diet remains the only effective treatment for CD. The advances in our understanding of the pathogenesis of CD have led to a search for alternative treatment agents. Several investigational agents are in various phases of clinical trials at present. In this review, we outline the clinical aspects of coeliac disease and summarise various investigational treatment agents.

Helicobacter pylori infection is usually acquired during childhood and represents one of the most common infections in humans. It is well known that H. pylori has belonged to humankind for hundreds of thousands of years and it accompanied the human migration from Africa. The adult international guidelines recommend treating all infected patients as H. pylori was classified among the first-class human carcinogens by the WHO in 1994 and it is one of the main factors involved in the development of gastric cancer. Conversely, the pediatric international guidelines are more restrictive in recommending the eradication of the infection in children. Although many studies have shown evidence regarding the pathological role of H. pylori regardless of the age of the infected patients, many others have highlighted its protective/positive role in several extra-gastric diseases in children. In this review, both points of view regarding the eradication in children are critically analyzed.

We report the rare entity of ulcerative colitis-related severe enteritis (UCRSE) following colectomy in a child. This entity has been described primarily in adults and is characterised by diffuse enteritis with histology identical to ulcerative colitis (UC). The mainstay treatment is steroids and in recent years anti-tumour necrosis factor agents. A boy in early adolescence required urgent colectomy for medically refractory severe acute colitis. Colectomy specimen histology confirmed UC. Postoperatively, he developed fevers, severe abdominal pain and excessive stoma output (5 L/day). Endoscopy revealed severe extensive enteritis, histologically resembling UC. Infliximab (IFX) was commenced with significant improvement. He remains asymptomatic 28 months post-colectomy on maintenance IFX monotherapy. To our knowledge, this is the youngest patient with this complication. This case illustrates the need to consider UCRSE in a child with otherwise unexplained fever, severe abdominal pain and high stoma output post colectomy. IFX monotherapy is a successful treatment option.

Since the discovery of Helicobacter pylori (H. pylori) as the causative organism for gastric and duodenal ulcers four decades ago and subsequent recognition as class 1 gastric carcinogen, countless numbers of studies have been conducted and papers published, on the efficacy of various management strategies to eradicate the infection. In adults, a global consensus by the experts in the field concluded that H. pylori gastritis is an infectious disease and requires treatment irrespective of the presence or absence of symptoms due to the potential for serious complication like peptic ulcer disease and gastric neoplasia. However, although more than half the world's population harbors H. pylori, these serious complications occur only in a small minority of the infected population, even less so in childhood. More importantly, there is accumulating evidence for beneficial role of H. pylori against many chronic health conditions, from several epidemiological and laboratory studies. No doubt, eradication therapy is indicated in children with H. pylori-related peptic ulcer disease. Even though the pediatric guidelines from various learned societies recommend against a "test and treat" strategy, this is not always adhered to. With the accumulating evidence of the possible beneficial role of H. pylori, it is time to pause and think, are we causing more harm than good by eradicating H. pylori in every child who has this bug?

Since the discovery of Helicobacter pylori ( H. pylori ) as the causative organism for gastric and duodenal ulcers four decades ago and subsequent recognition as class 1 gastric carcinogen, countless numbers of studies have been conducted and papers published, on the efficacy of various management strategies to eradicate the infection. In adults, a global consensus by the experts in the field concluded that H. pylori gastritis is an infectious disease and requires treatment irrespective of the presence or absence of symptoms due to the potential for serious complication like peptic ulcer disease and gastric neoplasia. However, although more than half the world’s population harbors H. pylori , these serious complications occur only in a small minority of the infected population, even less so in childhood. More importantly, there is accumulating evidence for beneficial role of H. pylori against many chronic health conditions, from several epidemiological and laboratory studies. No doubt, eradication therapy is indicated in children with H. pylori- related peptic ulcer disease. Even though the pediatric guidelines from various learned societies recommend against a “test and treat” strategy, this is not always adhered to. With the accumulating evidence of the possible beneficial role of H. pylori , it is time to pause and think, are we causing more harm than good by eradicating H. pylori in every child who has this bug? Keywords Asthma and allergies , benefits , children , eosinophilic esophagitis , gastroesophageal reflux , , , inflammatory bowel disease , obesity

Objective: Children with complex needs and severe disability may undergo gastrostomy insertion to support feeding difficulties. Parent education programs are critical components of clinical care pathways but there is little information on parent-reported educational needs. This study describes the collaborative process that yielded a resource to assist parents considering gastrostomy tube placement for their children, and the evaluation of the resource. Methods: A qualitative descriptive study was conducted to identify parent needs for gastrostomy education. Based on these data and codesigning with parents with a child with gastrostomy tube, an online resource comprising video and written materials was developed. Twenty parents then evaluated its suitability for parent learning. Results: Data describing parent needs were coded into categories which represented the gastrostomy “journey”—Decision Making, Hospital Stay and Living with Gastrostomy. Called Nourish , the gastrostomy training resource comprised 19 videos and 18 accompanying worksheets. Twenty parent caregivers rated it highly for its support for learning, confidence building, and planning. Conclusion: The process that created Nourish generated a useful resource for parents considering or managing gastrostomy tube feedings for their child. Positive feedback suggests that this approach could be a valuable adjunct to clinical care.

A 36 weeks old baby boy was transferred interstate to the national paediatric liver transplant unit at the Children's Hospital, Westmead in Sydney for liver transplantation on Day 32 of life. Patient received liver transplantation at 41 weeks corrected age, which was three days after arrival to the transplant unit. This transfer involved road and aircraft ambulance utilization. We report this transport process in the setting of severe neonatal liver failure, complicated by persistent, uncorrectable coagulopathy, thrombocytopenia, ascites, hyperammonia and portal hypertension with particular reference to pre-transport preparations and the treatments undertaken during the difficult transport which spanned over eight hours. Keywords: Neonatal; Transport; Liver; Transplantation Abbreviations: FFP: fresh frozen plasma, PRBC: packed red blood cells, NICU: Neonatal Intensive Care Unit, PCH: Perth Children’s Hospital, NETS WA: Newborn Emergency Transfer Service of Western Australia, IVIG: intravenous immunoglobulin, GALD: gestational alloimmune liver disease, IgG: immunoglobulin G

Coeliac disease (CD) is an autoimmune condition, characterised by an immunological response to ingestion of gluten in genetically susceptible individuals, affecting about 1% of the population in many regions of the world. Increased knowledge regarding the pathogenesis, improved diagnostic techniques and increased awareness over the years have transformed our understanding of CD such that it is no longer a rare enteropathy, but rather a common multisystem disorder which affects individuals of all ages and results in wide‐ranging clinical manifestations. Only a minority of children now present with the classical clinical picture of profound diarrhoea and malnutrition. An increasing number of children with CD present with either mild, non‐specific gastrointestinal symptoms or extra‐intestinal manifestations or even be asymptomatic, as in many screening‐detected children. Knowledge about these diverse manifestations and a high index of suspicion is essential so that appropriate investigations can be undertaken, diagnosis established and treatment initiated. Although traditionally small bowel biopsy is considered essential for the diagnosis, recent guidelines from various professional bodies have paved the way to a biopsy‐free diagnosis in a subset of symptomatic children. Life long, strict gluten‐free diet still remains the only effective treatment at present, although several novel therapeutic agents are in various phases of clinical trials.

Coeliac disease (CD) diagnosis is based on clinical assessment, detection of specific autoantibodies and histological examination of small intestinal biopsies. The European Society of Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) guidelines have recently been updated and recommend CD may be diagnosed without a biopsy or HLA typing in symptomatic patients with high titre IgA tissue transglutaminase antibodies (aTTG) and positive endomysial antibodies (EMA). However, the need for EMA in patients with high level aTTG has been questioned. We aimed to determine the diagnostic benefit of HLA typing, EMA and IgG antibodies to deamidated gliadin (DGP) in children with high level aTTG. We prospectively evaluated children presenting for assessment of possible CD. All patients underwent small bowel biopsy, serological testing and HLA typing. Results were analysed and correlated with histopathological diagnosis. A total of 209 children were assessed; 61.5% were found to have CD and 29% could have avoided biopsy as per 2020 ESPGHAN guidelines. Titres of aTTG ≥60 U/mL or DGP ≥28 U/mL gave 100% specificity and 100% positive predictive value (PPV) for CD. HLA typing and EMA did not improve the PPV of patients with aTTG ≥60 U/mL, but addition of DGP ≥28 U/mL improved diagnostic sensitivity whilst retaining 100% specificity. Addition of HLA and EMA testing in patients with high titre aTTG antibodies does not improve diagnostic performance and may possibly be omitted from the serological workup in these patients. Our data support combining aTTG and DGP testing and optimising cut-offs to maximise specificity as an alternative biopsy-free diagnostic approach.

Objective Children with intellectual disability and marked feeding difficulties may undergo gastrostomy insertion to assist with their nutritional and medication needs. Use has increased recently for younger children, and it is intended to provide long-term support. This study explored the perceived value of gastrostomy for the quality of life (QOL) of children with intellectual disabilities and their families. Methods Twenty-one primary caregivers of children with intellectual disability aged 2-18 years participated in semistructured telephone interviews. Data were analysed using directed content analysis, and data were coded to existing QOL domains relevant to children with intellectual disability and their families. Results Benefits in each of the child and family QOL domains were represented in the interview data. For children, the impacts of gastrostomy for the physical health domain were predominant, supplemented by experiences of value for emotional well-being, social interactions, leisure activities and independence. For families, gastrostomy was integrated into multiple aspects of QOL relating to family interactions, parenting, resources and supports, health and safety, and advocacy support for disability. Shortcomings related to difficulties with equipment and complications. Conclusions Our comprehensive overview of the value of gastrostomy for children with intellectual disability and their families was classified within a QOL framework. Gastrostomy was mainly supportive over long time periods across many QOL domains. Findings will be of use to patient counselling and education and the development of family support resources.

BACKGROUNDPositive health outcomes have been observed following gastrostomy insertion in children with intellectual disability, which is being increasingly used at younger ages to improve nutritional intake. This study investigated the effect of gastrostomy insertion on survival of children with severe intellectual disability.METHODSWe used linked disability and health data of children and adolescents who were born in Western Australia between 1983 and 2009 to compare survival of individuals with severe intellectual disability by exposure to gastrostomy status. For those born in 2000-2009, we employed propensity score matching to adjust for confounding by indication. Effect of gastrostomy insertion on survival was compared by pertinent health and sociodemographic risk factors.RESULTSCompared with children born in the 1980s-1990s, probability of survival following first gastrostomy insertion for those born in 2000-2009 was higher (2 years: 94% vs. 83%). Mortality risk was higher in cases than that in their matched controls (hazard ratio 2.9, 95% confidence interval 1.1, 7.3). The relative risk of mortality (gastrostomy vs. non-gastrostomy) may have differed by sex, birthweight and time at first gastrostomy insertion. Respiratory conditions were a common immediate or underlying cause of death among all children, particularly among those undergoing gastrostomy insertion.CONCLUSIONSWhilst gastrostomy insertion was associated with lower survival rates than children without gastrostomy, survival improved with time, and gastrostomy afforded some protection for the more vulnerable groups, and earlier use appears beneficial to survival. Specific clinical data that may be used to prioritise the need for gastrostomy insertion may be responsible for the survival differences observed.

The largest group of recipients of pediatric gastrostomy have neurological impairment with intellectual disability (ID). This study investigated trends in first gastrostomy insertion according to markers of disadvantage and ID etiology. Linked administrative and health data collected over a 32-year study period (1983–2014) for children with ID born between 1983 and 2009 in Western Australia were examined. The annual incidence rate change over calendar year was calculated for all children and according to socioeconomic status, geographical remoteness, and Aboriginality. The most likely causes of ID were identified using available diagnosis codes in the linked data set. Of 11,729 children with ID, 325 (2.8%) received a first gastrostomy within the study period. The incidence rate was highest in the 0–2 age group and there was an increasing incidence trend with calendar time for each age group under 6 years of age. This rate change was greatest in children from the lowest socioeconomic status quintile, who lived in regional/remote areas or who were Aboriginal. The two largest identified groups of ID were genetically caused syndromes (15.1%) and neonatal encephalopathy (14.8%).

Tricho-hepatic-enteric syndrome (THES) is a genetically heterogeneous rare syndrome (OMIM: 222470 (THES1) and 614602 (THES2)) that typically presents in the neonatal period with intractable diarrhoea, intra-uterine growth retardation (IUGR), facial dysmorphism, and hair and skin changes. THES is associated with pathogenic variants in either TTC37 or SKIV2L; both are components of the human SKI complex, an RNA exosome cofactor. We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L. While THES was considered in the differential diagnosis, the absence of protracted diarrhoea delayed definitive diagnosis. We therefore suggest that SKIV2L testing should be considered in cases otherwise suggestive of THES, but without the characteristic diarrhoea. We expand the phenotypic spectrum while reviewing the current knowledge on SKIV2L.

Objective To examine the frequency of hospital admissions before and after gastrostomy insertion in children with severe intellectual disability. Study design We conducted a retrospective cohort study using linked health administrative and disability data from Western Australia (WA) and New South Wales (NSW). Children born between 1983 and 2009 in WA and 2002 and 2010 in NSW who had a gastrostomy insertion performed (n = 673 [WA, n = 325; NSW, n = 348]) by the end of 2014 (WA) and 2015 (NSW) were included. Conditional Poisson regression models were used to evaluate the age-adjusted effect of gastrostomy insertion on acute hospitalizations for all-cause, acute lower respiratory tract infections (LRTI), and epilepsy admissions. Results The incidence of all-cause hospitalizations declined at 5 years after procedure (WA cohort 1983-2009: incidence rate ratio, 0.70 [95% CI, 0.60-0.80]; WA and NSW cohort 2002-2010: incidence rate ratio, 0.63 [95% CI, 0.45-0.86]). Admissions for acute LRTI increased in the WA cohort and remained similar in the combined cohort. Admissions for epilepsy decreased 4 years after gastrostomy in the WA cohort and were generally lower in the combined cohort. Fundoplication seemed to decrease the relative incidence of acute LRTI admissions in the combined cohort. Conclusions Gastrostomy was associated with health benefits including reduced all-cause and epilepsy hospitalizations, but was not protective against acute LRTI. These decreases in hospitalizations may reflect improved delivery of nutrition and medications.

Earlier introduction of infliximab (IFX) in Crohn’s disease (CD) may be associated with a sustained remission.

Objectives To evaluate how age-related trends in nutritional status, physical health, and parental well-being in females with Rett syndrome may be related to gastrostomy placement and to examine the impact of the procedure on mortality. Study design We included 323 females from the Australian Rett Syndrome Study and analyzed their demographic, genetic, and child and parental health data collected from over 6 waves of follow-up questionnaire between 2000 and 2011. We used mixed-effects models to estimate the association between repeated measures of outcomes and age, gastrostomy placement and their interaction and Cox proportional hazards regression models to estimate relative risks of mortality for individuals with gastrostomy. Results Nearly one-third (30.3%) of the cases underwent gastrostomy placement. Nutritional status based on weight, height, and body mass index (BMI) improved over time, and BMI was greater in individuals with gastrostomy placement than in those without (adjusted beta = 0.87, 95% CI 0.02-1.73). There was no association between gastrostomy placement and individual's physical health outcomes or parental physical and mental health, nor did the age trend of these outcomes vary by gastrostomy insertion status. Nevertheless, among those at risk of suboptimal weight, the all-cause mortality rate was greater in those who had gastrostomy placement compared with those who had not (hazard ratio 4.07, 95% CI 1.96-8.45). Conclusion Gastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear.

ABSTRACTObjective:Gastrostomy insertion in pediatrics is usually used in children with complex needs and severe disability. The accessibility and acceptance of the procedure is increasing but population‐based occurrence data are lacking and there is limited understanding of its use in clinical subgroups.Methods:This birth cohort study investigated the trends in first gastrostomy insertion among a pediatric population born between 1983 and 2009 in Western Australia using linked administrative and health data collected over a 32‐year period (1983–2014). Indications were identified using diagnosis codes from linked hospitalization data and grouped according to a refined classification system. Age and birth cohort patterns of first gastrostomy use, over calendar year and age respectively, were described.Results:Of the 690,688 children born between 1983 and 2009, 466 underwent a gastrostomy insertion. Overall, the prevalence was approximately 7 cases per 10,000 births. New gastrostomy insertions were increasingly performed in children during the preschool years over calendar years and in successive birth cohorts. Children with a neurological disorder constituted the largest group receiving gastrostomy (n = 372; 79.8) including 325 (87.4%) with comorbid intellectual disability.Conclusions:New gastrostomy insertion among children who require long‐term enteral feeding support increased over the study period. The procedure is most often performed in the context of severe neurological disability, including intellectual disability, and offers families potential for long‐term home‐based management of feeding difficulties.