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Cognitive and psychiatric disorders are well documented across the lifetime of patients with inborn errors of metabolism (IEMs). Gut microbiota impacts behavior and cognitive functions through the gut-brain axis (GBA). According to recent research, a broad spectrum of GBA disorders may be influenced by a perturbed Tryptophan (Trp) metabolism and are associated with alterations in composition or function of the gut microbiota. Furthermore, early-life diets may influence children's neurodevelopment and cognitive deficits in adulthood. In Phenylketonuria (PKU), since the main therapeutic intervention is based on a life-long restrictive diet, important alterations of gut microbiota have been observed. Studies on PKU highlight the impact of alterations of gut microbiota on the central nervous system (CNS), also investigating the involvement of metabolic pathways, such as Trp and kynurenine (KYN) metabolisms, involved in numerous neurodegenerative disorders. An alteration of Trp metabolism with an imbalance of the KYN pathway towards the production of neurotoxic metabolites implicated in numerous neurodegenerative and inflammatory diseases has been observed in PKU patients supplemented with Phe-free amino acid medical foods (AA-MF). The present review investigates the possible link between gut microbiota and the brain in IEMs, focusing on Trp metabolism in PKU. Considering the evidence collected, cognitive and behavioral well-being should always be monitored in routine IEMs clinical management. Further studies are required to evaluate the possible impact of Trp metabolism, through gut microbiota, on cognitive and behavioral functions in IEMs, to identify innovative dietetic strategies and improve quality of life and mental health of these patients.

Objective To assess some quality of life (QOL) aspects of a low protein diet, using glycomacropeptide (GMP) as a protein substitute in patients with phenylketonuria (PKU). Methods This was a multicentre, prospective observational cohort, study. Metabolic control, nutritional parameters, and dietary adherence were assessed in patients with PKU before (T0), and six months after (T6) starting a low protein diet using GMP. Selected items from the PKU-QOL questionnaire were used to assess patients’ acceptance of their modified diet. Results 18 patients from three Italian Centres, completed the study. With the exception of LDL-cholesterol and vitamin 25OH-D concentrations, there were no differences between T0 and T6 in metabolic or nutritional parameters. Data suggested that patients have a good acceptance of protein substitutes containing GMP, probably because of their improved palatability. Conclusions According to our patients’ responses to items related to dietary regimen, GMP based protein substitutes do not appear to significantly affect QOL.

Background: Type 1 diabetes mellitus is a chronic autoimmune endocrine and metabolic disease which frequently occurs during infancy and childhood. Self-monitoring of blood glucose (SMBG) is of utmost importance to achieve good glycemic control. Common side effects of SMBG in children are pain, discomfort, skin induration, and reduced tactile sensitivity; moreover, SMBG does not allow continuous glycemic monitoring. The more recent introduction of much less invasive devices for continuous glucose monitoring (CGM) has indeed reduced procedure-related pain and discomfort, and allowed real-time glycemic monitoring. Methods: From the beginning of May to the end of September 2019, we conducted a survey by means of a two-section (children/parents) questionnaire, aimed at assessing the impact of CGM on children affected by type 1 diabetes mellitus and their families, referring to the Pediatric Diabetes outpatient clinic at Guglielmo da Saliceto Hospital in Piacenza, Italy. Results: The vast majority (80%) of children reported that the placement of the glycemic sensor is much less painful than fingertip multiple capillary punctures, as with traditional SMBG. Likewise, 90% of parents think that the use of CGM devices allowed a remarkable improvement of glycemic control, with regard either to the reduction of hypo- and/or hyper-glycemic episodes or to glycated hemoglobin (HbA1c) level. Moreover, 89% of parents believe that the use of glycemic sensors has led to a sharp improvement in children’s quality of life. According to children, school and sport are the two areas with the most evident improvement of their quality of life; less anxiety, high comfort and better glycemic control, particularly when not at home, have been indicated as major benefits. Conclusions: According to our data, the use of CGM devices can significantly improve the quality of life of type 1 diabetic children and their families.

Introduction COVID-19 is a highly infectious respiratory disease that rapidly emerged as an unprecedented epidemic in Europe, with a primary hotspot in Northern Italy during the first months of 2020. Its high infection rate and rapid spread contribute to set the risk for relevant psychological stress in citizens. In this context, mother–infant health is at risk not only because of potential direct exposure to the virus but also due to high levels of stress experienced by mothers from conception to delivery. Prenatal stress exposure associates with less-than-optimal child developmental outcomes, and specific epigenetic mechanisms (eg, DNA methylation) may play a critical role in mediating this programming association.Methods and analysis We present the methodological protocol for a longitudinal, multicentric study on the behavioural and epigenetic effects of COVID-19-related prenatal stress in a cohort of mother–infant dyads in Northern Italy. The dyads will be enrolled at 10 facilities in Northern Italy. Saliva samples will be collected at birth to assess the methylation status of specific genes linked with stress regulation in mothers and newborns. Mothers will provide retrospective data on COVID-19-related stress during pregnancy. At 3, 6 and 12 months, mothers will provide data on child behavioural and socioemotional outcomes, their own psychological status (stress, depressive and anxious symptoms) and coping strategies. At 12 months, infants and mothers will be videotaped during semistructured interaction to assess maternal sensitivity and infant’s relational functioning.Ethics and dissemination This study was approved by the Ethics Committee (Pavia). Results will be published in peer-reviewed journals and presented at national and international scientific conferences.Trial registration number NCT04540029; Pre-results.

Dietary treatment is the cornerstone of therapy for phenylketonuria (PKU), but adherence to low- phenylalanine diet progressively decreases after adolescence. We designed a survey to characterize the dietary habits of Italian adult PKU patients and to identify psychological factors influencing disease perception and adherence to diet. Participants to the survey (n = 111; response rate 94%) were asked to complete a structured questionnaire. Patients appeared to have an altered perception and awareness of the disease. About 40% of them did not consider PKU a disease and, despite declaring regular monitoring of phenylalanine levels (85%), nearly half of them reported a high plasma value over the last 6 months (>600 μmol/L, 48%) or were unable to specify it (31%). Adherence to PKU diet was unsatisfactory, with increased consumption of natural protein sources and reduced daily use of amino-acid supplements (

Abstract Background Iron deficiency anemia (IDA) and abdominal pain are commonly seen in a pediatric emergency department (8 and 18% incidence respectively in our center). They are manifestations of a wide variety of diseases ranging from benign to immediately life-threatening. Trichobezoar is an under-diagnosed entity that has to be considered in children and adolescents, expecially female, suffering from trichotillomania (compulsion to pull hair) and trichophagy (compulsion to swallow hair). When undiagnosed, gastric bezoars may cause gastric ulceration, perforation, haemorrhage and obstruction. Case presentation To underline the importance of including this pathology in the differential diagnosis of IDA and abdominal pain, we present the case of a 14 year-old girl with a huge trichobezoar which completely filled the stomach and extended into the small bowel. Since trichobezoar has an extension to the small bowel, it is classified as Rapunzel syndrome. As the bezoar couldn’t be removed by endoscopy, the girl underwent surgical intervention. The patient passed through a gradual re-feeding, with iron and vitamins supplementation, and through a psychiatric counselling. Conclusion The Rapunzel syndrome is a rare entity that may be complicated by life-threatening events. A prompt diagnosis and an appropriate therapy can reduce comorbidities. Gradual re-feeding with supplementation of micronutrients allows adequate catch-up weight with normalization of haematochemical nutritional parameters. Since many of these patients suffer from psychiatric pathology such as PICA with emotional problems and mental retardation, psychological/psychiatric counselling plays an important role in order to prevent bezoar recurrence.