Objectives:The aim of the study was to review published evidence and the opinion of practising clinicians on the prevalence and long-term health consequences of functional gastrointestinal symptoms in infants younger than 12 months.Methods:PubMed was searched from inception to November 2014 to find articles reporting the prevalence and long-term health outcomes of infantile colic, regurgitation, functional constipation, functional diarrhoea, and dyschezia in infants younger than <12 months. A questionnaire was sent to practising clinicians worldwide, and a group of 15 international experts met to discuss the likely frequency and longer-term consequences of these symptoms.Results:The literature search identified 30 studies reporting the prevalence of infantile colic (2%–73%), 13 that of regurgitation (3%–87%), 8 that of functional constipation (0.05%–39.3%), 2 that of functional diarrhoea (2%–4.1%), and 3 that of dyschezia (0.9%–5.6%). The studies varied in design, populations investigated, and definition of the symptoms. Questionnaires were received from 369 respondents. The experts agreed that the likely prevalences for colic, regurgitation, and functional constipation were 20%, 30%, and 15%, respectively. The limited data in the literature for functional diarrhoea and dyschezia suggest prevalences <10%. Infantile colic may be associated with future health problems in a subset of infants.Conclusions:Functional gastrointestinal symptoms appear to occur in a significant proportion of infants younger than 12 months and may have an impact on future health outcomes. Prospective collection of data according to agreed criteria is needed to obtain more accurate estimates of the prevalence and consequences of these symptoms.

Presented are guidelines for the prevention, diagnosis, and treatment of cow's milk protein allergy (CMPA) which is the most common food allergy in infants. It manifests through a variety of symptoms that place a burden on both the infant and their caregivers. The guidelines were formulated by evaluation of existing evidence-based guidelines, literature evidence and expert clinical experience. The guidelines set out practical recommendations and include algorithms for the prevention and treatment of CMPA. For infants at risk of allergy, appropriate prevention diets are suggested. Breastfeeding is the best method for prevention; however, a partially hydrolyzed formula should be used in infants unable to be breastfed. In infants with suspected CMPA, guidelines are presented for the appropriate diagnostic workup and subsequent appropriate elimination diet for treatment. Exclusive breastfeeding and maternal dietary allergen avoidance are the best treatment. In infants not exclusively breastfed, an extensively hydrolyzed formula should be used with amino acid formula recommended if the symptoms are life-threatening or do not resolve after extensively hydrolyzed formula. Adherence to these guidelines should assist healthcare practitioners in optimizing their approach to the management of CMPA and decrease the burden on infants and their caregivers.

Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of patients with microvillus inclusion disease (MVID). MVID is an intractable diarrhea of infantile onset with characteristic histopathologic findings that requires life-long parenteral nutrition or intestinal transplantation. A large number of such patients eventually develop cholestatic liver disease. Bi-allelic MYO5B mutations are also identified in a subset of patients with predominant early-onset cholestatic liver disease. We present here the compilation of 114 patients with disease-causing MYO5B genotypes, including 44 novel patients as well as 35 novel MYO5B mutations, and an analysis of MYO5B mutations with regard to functional consequences. Our data support the concept that (1) a complete lack of MYO5B protein or early MYO5B truncation causes predominant intestinal disease (MYO5B-MVID), (2) the expression of full-length mutant MYO5B proteins with residual function causes predominant cholestatic liver disease (MYO5B-PFIC), and (3) the expression of mutant MYO5B proteins without residual function causes both intestinal and hepatic disease (MYO5B-MIXED). Genotype-phenotype data are deposited in the existing open MYO5B database in order to improve disease diagnosis, prognosis, and genetic counseling.

Objectives: The Bristol Stool Form Scale (BSFS) is inadequate for non-toilet trained children. The Brussels Infant and Toddler Stool Scale (BITSS) was developed, consisting of 7 photographs of diapers containing stools of infants and toddlers. We aimed to evaluate interobserver reliability of stool consistency assessment among parents, nurses, and medical doctors (MDs) using the BITSS. Methods: In this multicenter cross-sectional study (2016–2017), BITSS photographs were rated according to the BSFS. The reliability of the BITSS was evaluated using the overall proportion of perfect agreement and the linearly weighted κ statistic. Results: A total of 2462 observers participated: 1181 parents (48.0%), 624 nurses (25.3%), and 657 MDs (26.7%). The best-performing BITSS photographs corresponded with BSFS type 7 (87.5%) and type 4 (87.6%), followed by the BITSS photographs representing BSFS type 6 (75.0%), BSFS type 5 (68.0%), BSFS type 1 (64.8%), and BSFS type 3 (64.6%). The weakest performing BITSS photograph corresponded with BSFS type 2 (49.7%). The overall weighted κ-value was 0.72 (95% CI 0.59–0.85; good agreement). Based on these results, photographs were categorized per stool group as hard (BSFS type 1–3), formed (BSFS type 4), loose (BSFS types 5 and 6), or watery (BSFS type 7) stools. According to this new categorization system, correct allocation for each photograph ranged from 83 to 96% (average: 90%). The overall proportion of correct allocations was 72.8%. Conclusions: BITSS showed good agreement with BSFS. Using the newly categorized BITSS photographs, the BITSS is reliable for the assessment of stools of non-toilet trained children in clinical practice and research. A multilanguage translated version of the BITSS can be downloaded at https://bitss-stoolscale.com/ .

ObjectivesTo estimate the cost of functional gastrointestinal disorders (FGIDs) and related signs and symptoms in infants to the third party payer and to parents.Study designTo estimate the cost of illness (COI) of infant FGIDs, a two-stage process was applied: a systematic literature review and a COI calculation. As no pertinent papers were found in the systematic literature review, a ‘de novo’ analysis was performed. For the latter, the potential costs for the third party payer (the National Health Service (NHS) in England) and for parents/carers for the treatment of FGIDs in infants were calculated, by using publicly available data. In constructing the calculation, estimates and assumptions (where necessary) were chosen to provide a lower bound (minimum) of the potential overall cost. In doing so, the interpretation of the calculation is that the true COI can be no lower than that estimated.ResultsOur calculation estimated that the total costs of treating FGIDs in infants in England were at least £72.3 million per year in 2014/2015 of which £49.1 million was NHS expenditure on prescriptions, community care and hospital treatment. Parents incurred £23.2 million in costs through purchase of over the counter remedies.ConclusionsThe total cost presented here is likely to be a significant underestimate as only lower bound estimates were used where applicable, and for example, costs of alternative therapies, inpatient treatments or diagnostic tests, and time off work by parents could not be adequately estimated and were omitted from the calculation. The number and kind of prescribed products and products sold over the counter to treat FGIDs suggest that there are gaps between treatment guidelines, which emphasise parental reassurance and nutritional advice, and their implementation.