Search

This study reports the complication and disease recurrence rates for ileocecal resection for pediatric and adult Crohn’s disease (CD) and identifies perioperative risk factors for these adverse outcomes in the two groups. Patients who underwent ileocecal resection for CD in a tertiary hospital in Italy (2010–2021) were included. Risk factors for postoperative complications and clinical and surgical disease recurrences were investigated with multivariate models. A total of 96 patients were included (children, 25%). There were no intraoperative complications. Thirty-one (32.3%) patients experienced 35 (36.5%) postoperative complications, and five (5.2%) were severe (Clavien–Dindo III–IV–V), with no intergroup difference for either overall postoperative complication rate (p = 0.257) or severe postoperative complication rate (p = 0.097). Most of these (77.1%) occurred within 30 days after surgery, especially in adults (p = 0.013). The multivariate analysis did not show risk factors for postoperative complications. Clinical and surgical recurrence rates after 5 years were 46.8% and 14.6%, respectively, with no intergroup rate differences. Clinical disease recurrence was positively correlated with previous abdominal surgery (p = 0.047) and negatively correlated with preoperative Hb levels (p = 0.046). A positive correlation was found between perianal disease and both clinical (p = 0.045) and surgical disease recurrences (p = 0.045). Urgent surgery was positively associated with surgical disease recurrence (p = 0.045). Notably, no children underwent urgent surgery in this study. In conclusion, the risk of postoperative complications among CD patients receiving ileocecal resection remains high, but most of them are nonserious. Some factors, such as urgent surgery, may increase the risk of disease recurrences.

Abstract Around the world, the 2019 Coronavirus disease (COVID-19), caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has raised serious public health problems and major medical challenges. The Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) published several papers on the impact of COVID-19 on the current management, diagnosis, and treatment of acute and chronic gastrointestinal, hepatic, immune-mediated, and functional disorders. The present article summarizes the most relevant SIGENP reports and consensus during and after the peak of the COVID-19 outbreak, including the diagnosis and treatment of inflammatory bowel disease (IBD), indications and timing of digestive endoscopy, and insights into the novel hepatitis.

Background: The utilization of anti-tumor necrosis factor-α (anti-TNF-α) biosimilars in inflammatory bowel disease (IBD) is constantly increasing. However, pediatric data are limited. This study aimed to assess the effectiveness and safety of adalimumab biosimilar (ADL-BioS) in pediatric IBD patients. Methods: All consecutive pediatric IBD patients from the Sicilian Network for Inflammatory Bowel Disease cohort treated with ADL-BioS from 2019 to 2021 were recruited. Remission at weeks 14 and 52, treatment persistence, and adverse events were the endpoints of this study. Factors associated with clinical remission and treatment persistence were examined. Results: There were 41 patients in total. Nine (22%) patients were switched from the reference product to ADL-BioS. Two patients had multiple switches. Eleven months was the median follow-up period. Clinical remission was attained by 70.7% and 72.0% of patients on weeks 14 and 52, respectively. Four (9.8%) adverse events occurred (10.1/100 person-year). Treatment persistence was 85.4% at 1 and 2 years. Patients with a longer duration of disease had a higher probability of stopping their treatment (p = 0.036). Conclusions: This is the first real-world study that particularly addresses the use of ADL-BioS in pediatric IBD. With high rates of treatment persistence and a low frequency of non-serious side effects, ADL-BioS seems to be effective.

Avoidant/Restrictive food intake disorder (ARFID) is a feeding disorder characterized by persistent difficulty eating, such as limited choices of preferred foods, avoidance or restriction of certain foods or food groups, and negative emotions related to eating or meals. Although ARFID mainly affects children, it can also occur in adolescents and adults. ARFID can have serious physical and mental health consequences, including stunted growth, nutritional deficiencies, anxiety, and other psychiatric comorbidities. Despite its increasing importance, ARFID is relatively underrecognized and undertreated in clinical practice. Treatment consists of a multidisciplinary approach involving pediatric gastroenterologists, nutritionists, neuropsychiatrists, and psychologists. However, there are several gaps in the therapeutic approach for this condition, mainly due to the lack of interventional trials and the methodological variability of existing studies. Few studies have explored the nutritional management of ARFID, and no standardized guidelines exist to date. We performed a systematic literature review to describe the different nutritional interventions for children and adolescents diagnosed with ARFID and to assess their efficacy and tolerability. We identified seven retrospective cohort studies where patients with various eating and feeding disorders, including ARFID, underwent nutritional rehabilitation in hospital settings. In all studies, similar outcomes emerged in terms of efficacy and tolerability. According to our findings, the oral route should be the preferred way to start the refeeding protocol, and the enteral route should be generally considered a last resort for non-compliant patients or in cases of clinical instability. The initial caloric intake may be adapted to the initial nutritional status, but more aggressive refeeding regimens appear to be well tolerated and not associated with an increased risk of clinical refeeding syndrome (RS). In severely malnourished patients, however, phosphorus or magnesium supplementation may be considered to prevent the risk of electrolyte imbalance, or RS.

Tube feeding is a life-saving treatment for children with neurological disabilities (ND), who often suffer from malnutrition and feeding disorders. Nonetheless, it is still not widely used. Our aim was to evaluate the outcomes of exclusive tube feeding in a cohort of ND children. All consecutive ND children who started tube feeding at our center within the last 5 years were included in this retrospective study. Weight-for-age, body mass index (BMI), mid-upper arm circumference (MUAC) Z-scores, and symptoms were collected at baseline (V0), 6 (V1), and 12 months (V2) after gastrostomy placement. Fifty children (62% males) were included. The ND-underlying disease was genetic (n = 29, 58%), hypoxic-ischemic encephalopathy (n = 17, 34%), or metabolic (n = 4, 8%). Indications for tube feeding were malnutrition (n = 35, 70%), recurrent respiratory infections (n = 11, 22%), or both (n = 4, 8%). Enteral formulae were polymeric (n = 29, 58%), semi-elemental (n = 17, 34%), hypercaloric (n = 3, 6%), or elemental (n = 1, 2%). Homemade blended feed was offered to three children (6%) in addition to the formula. Weight and BMI increased over the study period. Except for constipation, all symptoms (cough, vomiting, and diarrhea) improved at 6 and 12 months (p < 0.05). Non-serious complications (n = 8; track disruption, granuloma, and skin infection) were observed. Longer disease duration (p < 0.001) at the start of tube feeding was associated with the absence of normalization of nutritional status (BMI Z-score > 2 SD) at 12 months. Tube feeding with commercially available enteral formulae should be started as early as possible for better outcomes.

Abstract Gastrointestinal diseases such as celiac disease, functional gastrointestinal disorders (FGIDs), inflammatory bowel disease (IBDs) and acute or chronic diarrhea are quite frequent in the pediatric population. The approach, the diagnosis and management can be changed in the 2019 coronavirus disease (COVID-19) pandemic era. This review has focused on: i) the current understanding of digestive involvement in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infected children and adolescents and the clinical implications of COVID-19 for pediatric gastroenterologists, ii) the impact of COVID-19 on the clinical approach to patients with pre-existing or onset diseases, including diagnosis and treatment, and iii) the role and limited access to the instrumental diagnosis such as digestive endoscopy. To date, it is unclear if immunosuppression in patients with IBD and chronic liver disease represents a risk factor for adverse outcomes. Scheduled outpatient follow-up visits may be postponed, especially in patients in remission. Conversely, telemedicine services are strongly recommended. The introduction of new therapeutic regimens should be made on an individual basis, discussing the benefits and risks with each patient. Furthermore, psychological care in all children with chronic disease and their parents should be ensured. All non-urgent and elective endoscopic procedures may be postponed as they must be considered at high risk of viral transmission. Finally, until SARS-CoV-2 vaccination is not available, strict adherence to standard social distancing protocols and the use of personal protective equipment should continue to be recommended.

Background: Many pediatric inflammatory bowel disease (IBD) patients are now using biosimilars of anti-tumor necrosis factor-α (TNF-α), with increasing trends in recent years. This study reviewed all available data regarding the use of biosimilars in children with IBD.Methods: PubMed, Google Scholar, Scopus, and CENTRAL databases were searched through keywords; inflammatory bowel diseases, Crohn’s disease, ulcerative colitis, biosimilar and child were combined using “AND” and “OR.” Original research articles involving pediatric patients receiving one of the biosimilar medications based on the anti-TNF-α biologic drugs approved for pediatric IBD treatment, independently from efficacy and drug response, were included.Results: Nine studies were included in the evidence synthesis. CT-P13 was the biosimilar used in all studies. Four studies assessed the induction effectiveness of CT-P13. Clinical response and remission rates of biosimilar treatment were 86–90% and 67–68%, respectively, and they were not significantly different to the originator group. Five prospective studies on patients elected to switch from originator IFX to CT-P13 yielded similar results. Adverse events related to CT-P13 were mostly mild. The most frequently reported were upper respiratory tract infections. The switch from the originator had no significant impact on immunogenicity.Conclusion: The current review showed reported CT-P13 effectiveness as measured by clinical response and/or remission rates after induction or during maintenance and suggest that there is no significant difference with that of the originator IFX. Further studies are warranted, including clinical, and pharmacovigilance studies.

Background: Duodenal duplication cysts are rare gastrointestinal tract malformations. Most patients experience symptom onset in the first decade of life. This review aims to examine clinical presentation, management strategies and outcomes of duodenal duplication cysts in childhood. Methods: A Pubmed/Medline (http://www.ncbi.nlm.nih.gov/pubmed/) search in October 2019 for articles published since 1999 using the keywords “duodenal duplication cyst,” “child” and “newborn” was carried out. Clinical symptoms, complications, diagnostic examinations, treatment options and outcomes were analyzed and tabulated. Results: There were 41 citations in the literature providing adequate descriptions of 45 cases of duodenal duplication cysts. The age of presentation ranged from newborn to 18 years. The median interval between initial presentation and definitive diagnosis and treatment was 17 months (range: 2 months to 12 years). Overall, 67% of cases presented with abdominal pain, and 43% were complicated with pancreatitis. Different surgical and endoscopic therapeutic strategies were reported. Conclusions: Duodenal duplication cysts may be associated with life-threatening complications and/or recurrent symptoms, impairing quality of life. Early recognition of patients who demonstrate suggestive signs and symptoms is important to ensure success of treatment. This review may be useful to highlight the main diagnostic aspects and limit the risk of a delayed diagnosis.

Abstract The prevalence of children with neurological impairment (NI) presenting feeding difficulties and gastrointestinal symptoms is rising. The most recent guidelines recommend early nutritional assessment and intervention in order to prevent undernutrition and growth failure, along with the proper diagnosis and treatment of some frequent gastrointestinal symptoms, such as gastroesophageal reflux disease (GERD) and constipation, which can further worsen the feeding process and nutritional status. Nonetheless, the nutritional issues and growth deficits of children with NI are often considered to be of low priority or under recognised by healthcare providers. The present article proposes ten top tips that highlight the major points along the nutritional management pathway of NI children. The implementation of these tips in all healthcare settings could potentially improve patient outcomes and reduce morbidity and mortality.

Proton pump inhibitors (PPIs) are among the most prescribed drugs worldwide and include omeprazole, esomeprazole, lansoprazole, pantoprazole, and rabeprazole. Their use in pediatrics is approved for children older than 1 year, for the short-term treatment of symptomatic gastroesophageal reflux disease (GERD), healing of erosive esophagitis, treatment of peptic ulcer disease, and eradication of Helicobacter pylori. PPIs are also considered the standard of care for pediatric eosinophilic esophagitis. Despite the strict range of indications, the use of this class of molecules has increased in all pediatric age ranges. The long-term gastric acid suppression in children has been linked to increased risks of gastrointestinal and lower respiratory tract infections, bone fractures, and allergy. This study aims to provide a comprehensive overview of the mechanism of actions, use (and misuse) in infants and children, and safety of PPIs.

Vitamin D is essential for the regulation of the immune system. In recent years, the role of vitamin D in the control of several autoimmune conditions such as inflammatory bowel disease (IBD), celiac disease, type 1 diabetes mellitus (T1DM), and others has been investigated. The aim of this review was to define the level of knowledge on vitamin D’s role in these disorders, as well as the preventive and therapeutic role of vitamin D supplementation. Relevant studies published over the last 20 years were identified via a PubMed/Medline (http://www.ncbi.nlm.nih.gov/pubmed/) search using the keywords: vitamin D, autoimmune disease, and prevention. Vitamin D deficiency or impaired function of the enzymes necessary for its activity has been shown to affect the onset and severity of the autoimmune diseases examined. Vitamin D supplementation appears useful in the support therapy of IBD. Its role in celiac disease, autoimmune hepatitis, T1DM, and autoimmune thyroiditis is unclear. In conclusion, further studies are needed to define whether vitamin D is a cause or a result of the most common autoimmune, extra-skeletal diseases, such as IBD. Vitamin D should be provided to all newborns during their first year of life. Afterwards, the vitamin D supplementation regimen should be tailored to the presence of risk factors for vitamin D deficiency and/or specific disease.

This study reports the outcomes of an enhanced recovery after surgery (ERAS) protocol in pediatric inflammatory bowel disease (IBD) surgery. Children who underwent surgery for IBD at two academic referral centers from January 2016 to June 2021 were included. Preoperative counseling, early enteral feeding (Impact®, Nestlé Health Science, and early mobilization were all part of the ERAS protocol. The outcomes (timing of first defecation, postoperative complications, and length of hospital stay (LOS)) were compared to traditional perioperative regimens (non-ERAS group). Thirty-three children who had 61 abdominal surgeries for IBD were included. Forty (65.5%) surgical procedures were included in the non-ERAS group, and 21 (34.5%) were included in the ERAS group. The postoperative complication rate was significantly lower in the ERAS group than in the non-ERAS group (29.6% vs. 55%, p = 0.049). The first defecation occurred earlier in the ERAS group than in the non-ERAS group (p < 0.001). There was no significant intergroup difference in the LOS. The implementation of ERAS in pediatric IBD surgery resulted in better outcomes than traditional perioperative care, especially in terms of postoperative complication rate and bowel function recovery. Further pediatric studies are needed to validate these findings and support ERAS application in children.

Tube feeding is a therapeutic intervention that is aimed at providing nutritional support and is important in the nutritional and gastrointestinal management of children with neurological disability (ND) worldwide. Since the publication of the first European Society of Gastroenterology, Hepatology, and Nutrition (ESPGHAN) consensus paper in 2017, some aspects of tube-feeding modalities have attracted the interest of the scientific community more than others, including the type of enteral formulas, enteral access, and the challenging practice of tube weaning. The purpose of this review was to report on the most recent hot topics and new directions in tube-feeding strategies for children with ND.

Vitamin D (VD) is an essential micronutrient with multiple functions for human growth, and adequate intake should be guaranteed throughout life. However, VD insufficiency is observed in infants all over the world. Low VD concentration in the breast milk of non-supplemented mothers and low compliance to VD daily supplementation are the main causes of VD insufficiency, especially in the long term. Furthermore, VD supplementation dosages are still debated and differ by country. We conducted a systematic review to compare the most recent evidence on different postnatal VD supplementation strategies, determining whether supplementation given to the mother is as effective as that administered directly to the child, and whether different dosages and administration schedules differ significantly in terms of efficacy and safety. We identified 18 randomized controlled trials (RCTs) addressing the role of infant (n = 961), maternal (n = 652) or combined infant and maternal VD supplementation (n = 260 pairs). In all studies, similar outcomes emerged in terms of efficacy and safety. According to our findings, alternative approaches of VD supplementation may be adopted, especially in cases where the adherence to daily supplementation strategies is poor. This review shows that different dosages and supplementation strategies result in similar VD sufficiency rates. Therefore, international guidelines may be revised in the future to offer multiple and different options of supplementation for specific settings and ages.

Objective: Up to 30% of pediatric patients with Crohn's disease (CD) require surgery. The aim of the study was to evaluate long-term health-related quality of life (HRQoL) outcome in children with CD who have had ileocolonic resection.Materials and methods: This was a retrospective cross-sectional study on all pediatric patients who had undergone surgery for CD between January 2015 and December 2017 in the Pediatric Surgery and Gastroenterology Units of the University Hospital of Messina. Surgical treatment was represented by laparoscopic ileocecal resection with latero-lateral anastomosis. Patients were asked to fill in a modified version of the IMPACT III questionnaire made up of 15 closed questions before and after surgery. The questionnaire was scored on a five-point scale with 5 reporting “not a problem” and 1 “a very severe problem.” The total score ranged from 15 (worst HRQoL) to 75 (best HRQoL). Frequency of relapses, reoperations, complications during follow-up, and postoperative bowel function were also studied.Results: Data were obtained in 10 patients (9 males), who underwent surgery at a median age of 13.5 years (range 13–18), after a median post-diagnosis period of 2.5 years (range 0–8). Preoperative scores were low in all 4 domains of the questionnaire. Postoperatively, HRQoL measures improved significantly (p < 0.05) about symptoms, school attendance, social and emotional functioning. Overall, nearly all patients were completely satisfied with the surgical outcome.Conclusions: HRQoL is low in CD children referred for possible operation, and surgery may positively affect the overall HRQoL. Collecting HRQoL data provides insight into the impact of treatment on children health status.

Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder caused mainly by loss of function variants in the NHS gene. NHS is characterized by congenital cataracts, dental anomalies, and distinctive facial features, and a proportion of the affected individuals also present intellectual disability and congenital cardiopathies. Despite identification of at least 40 distinct hemizygous variants leading to NHS, genotype-phenotype correlations remain largely elusive. In this study, we describe a Sicilian family affected with congenital cataracts and dental anomalies and diagnosed with NHS by whole-exome sequencing (WES). The affected boy from this family presented a late regression of cognitive, motor, language, and adaptive skills, as well as broad behavioral anomalies. Furthermore, brain imaging showed corpus callosum anomalies and periventricular leukoencephalopathy. We expand the phenotypic and mutational NHS spectrum and review potential disease mechanisms underlying the central neurological anomalies and the potential neurodevelopmental features associated with NHS.

We aimed to investigate the association between caregiver social status and health-related quality of life (HRQoL) in children with neurological impairment (NI) on home enteral nutrition (HEN). This was an ancillary study of a multicenter, cross-sectional study which explored HRQoL in 75 NI children on HEN. All the caregivers from the original cohort were contacted, and data on education level, occupation and marital status were collected. The association between social status and HRQoL was investigated using a multiple Poisson Generalized Linear Model. In total, 93 caregivers were included, responsible for the care of 71 children. The caregivers of four children of the original cohort did not answer the questionnaire. Mothers with high-level education presented lower HRQoL in comparison to mothers with low-level (β: −5.97; 95% CI −11.51, −0.10; p = 0.027) or medium-level education (β: 4.85; 95% CI −9.87, 0.53; p = 0.044). The analysis of the subgroup of cases in which the main caregiver was represented by both parents gave similar findings, with education level of the father being negatively correlated with HRQoL. Our data showed that higher education level may negatively affect quality of life of caregivers of NI children. This could be helpful in identifying at-risk families and addressing supportive efforts.

Nutrition and intestinal function are strictly interrelated [...]

Cardiorenal syndrome (CRS) is defined as a disorder resulting from the abnormal interaction between the heart and kidney, in which acute or chronic dysfunction of one organ may lead to acute and/or chronic dysfunction of the other. The functional interplay between the heart and kidney is characterized by a complex bidirectional symbiotic interaction, regulated by a wide array of both genetic and environmental mechanisms. There are at least five known subtypes of CRS, based on the severity of clinical features and the degree of heart/renal failure. The fourth subtype (cardiorenal syndrome type 4 (CRS4)) is characterized by a primary chronic kidney disease (CKD), which in turn leads to a decreased cardiac function. Impairment of renal function is among the most important pathophysiological factors contributing to heart failure (HF) in the pediatric age group, and cardiovascular complications could be one of the most important causes of mortality in pediatric patients with advanced CKD. In this context, a loss of glomerular filtration rate directly correlates with both the progression of cardiovascular complications in CRS and the risk of HF. This review describes the interaction pathways between the heart and kidney and the recently identified pathophysiological mechanisms underlying pediatric CRS, with a special focus on CRS4, which encompasses both primary CKD and cardiovascular disease (CVD).

Microphthalmia, anophthalmia, and coloboma (MAC) are a group of congenital eye anomalies that can affect one or both eyes. Patients can present one or a combination of these ocular abnormalities in the so called “MAC spectrum”. The KIF17 gene encodes the kinesin-like protein Kif17, a microtubule-based, ATP-dependent, motor protein that is pivotal for outer segment development and disc morphogenesis in different animal models, including mice and zebrafish. In this report, we describe a Sicilian family with two siblings affected with congenital coloboma, microphthalmia, and a mild delay of motor developmental milestones. Genomic DNA from the siblings and their unaffected parents was sequenced with a clinical exome that revealed compound heterozygous variants in the KIF17 gene (NM_020816.4: c.1255C > T (p.Arg419Trp); c.2554C > T (p.Arg852Cys)) segregating with the MAC spectrum phenotype of the two affected siblings. Variants were inherited from the healthy mother and father, are present at a very low-frequency in genomic population databases, and are predicted to be deleterious in silico. Our report indicates the potential co-segregation of these biallelic KIF17 variants with microphthalmia and coloboma, highlighting a potential conserved role of this gene in eye development across different species.

Both genetic and environmental factors are involved in the onset of inflammatory bowel disease (IBD). In particular, diet composition is suspected to significantly contribute to IBD risk. In recent years, major interest has raised about the role of nutrition in disease pathogenesis and course, and many studies have shown a clear link between diet composition and intestinal permeability impairment. Moreover, many IBD-related factors, such as poor dietary intake, nutrients loss and drugs interact with nutritional status, thus paving the way for the development of many therapeutic strategies in which nutrition represents the cornerstone, either as first-line therapy or as reversing nutritional deficiencies and malnutrition in IBD patients. Exclusive enteral nutrition (EEN) is the most rigorously supported dietary intervention for the treatment of Crohn’s Disease (CD), but is burdened by a low tolerability, especially in pediatric patients. Promising alternative regimens are represented by Crohn’s Disease Exclusion Diet (CDED), and other elimination diets, whose use is gradually spreading. The aim of the current paper is to provide a comprehensive and updated overview on the latest evidence about the role of nutrition and diet in pediatric IBD, focusing on the different nutritional interventions available for the management of the disease.

Acute malnutrition is a nutritional deficiency resulting from either inadequate energy or protein intake. Children with primary acute malnutrition are common in developing countries as a result of inadequate food supply caused by social, economic, and environmental factors. Secondary acute malnutrition is usually due to an underlying disease causing abnormal nutrient loss, increased energy expenditure, or decreased food intake. Acute malnutrition leads to biochemical changes based on metabolic, hormonal, and glucoregulatory mechanisms. Most children with primary acute malnutrition can be managed at home with nutrition-specific interventions (i.e., counseling of parents, ensuring household food security, etc.). In case of severe acute malnutrition and complications, inpatient treatment is recommended. Secondary acute malnutrition should be managed by treating the underlying cause.

Immune response to vaccinations in celiac patients is of growing scientific interest. However, some aspects of the relationship between celiac disease (CD) and vaccines are still unclear. A comprehensive search of published literature using the PubMed database was carried out using the following key terms: “adaptive immunity”, “celiac disease”, “humoral immune response”, “immunization”, and “vaccination”. To date, there is no evidence showing any causative association between vaccines and CD development. Therefore, vaccinations may be administered according to the modalities and timing of the National Immunization Schedule for each country. The rotavirus vaccine is currently recommended for the general population, and according to some data, it appears to reduce the risk for the development of CD autoimmunity in the early years of life. Regarding the hepatitis B virus, a booster dose of the vaccine is often required due to the low or the lost immune response rate in CD. Furthermore, determination of hepatitis B antibody titers could be useful in newly diagnosed CD subjects regardless of age at diagnosis. Finally, pneumococcal vaccines may be administered in patients with advancing age at diagnosis and concomitant risk factors. Future clinical practice guidelines for vaccination and monitoring programs in celiac patients could be recommended.

Home Artificial Nutrition (HAN) is a safe and efficacious technique that insures children’s reintegration into the family, society and school. Epidemiological data on paediatric HAN in Italy are not available. Aim: to detect the prevalence and incidence of Home Parenteral Nutrition (HPN) and Home Enteral Nutrition (HEN), either via tube or mouth, in Italy in 2016. Materials and methods: a specific form was sent to all registered SIGENP members and investigators of local HAN centres, inviting them to provide the requested centre’s data and demographics, underlying diseases and HAN characteristics of the patients. Results: we recorded 3403 Italian patients on HAN aged 0 to 19 years from 22 centres: 2277 HEN, 950 Oral Nutritional Supplements (ONS) and 179 HPN programs. The prevalence of HEN (205 pts/million inhabitants) and HPN (16 pts/million inhabitants) has dramatically increased in Italy in the last 9 years. Neurodisabling conditions were the first indication for HEN by tube or mouth while HPN is mainly requested in digestive disorders. Conclusions: HAN is a widespread and rapidly growing treatment in Italy, as well as in other European countries. Awareness of its extent and characteristics helps improving HAN service and patients’ quality of life.

Malnutrition is frequent in neurologically impaired (NI) children. Enteral feeding via gastrostomy tube is increasingly being used to provide adequate nutrition. Our aim was to assess the outcomes of exclusive gastrostomy tube feeding with standard polymeric formula in children with NI, severe oro-motor dysfunction, and malnutrition, and to investigate the role of the underlying NI-associated disease. A five-year retrospective study from January 2013 to November 2017 was conducted. The primary aim was to assess the nutritional outcomes of exclusive gastrostomy tube feeding with standard polymeric formula in malnourished NI children. The secondary aim was to investigate gastrostomy complications and the impact of the underlying NI-associated disease on the nutritional outcomes. We enrolled 110 consecutive children with NI. Of these patients, 34.5% (N = 38) were categorized as malnourished and started exclusive enteral feeding with a standard (1.0 kcal/mL) polymeric formula (Nutrini, Nutricia) after percutaneous endoscopic gastrostomy (PEG) placement. Seventy-three percent of patients (N = 28) had cerebral palsy (CP); other diagnoses included metabolic (13%, N = 5) and genetic (13%, N = 5) diseases. Tricep skinfold thickness had significantly improved in all patients at 12-months follow-up, while body weight and body mass index showed significant increases mainly in children with CP. No serious complications occurred. We found that standard polymeric formula via gastrostomy tube represents a safe and efficient nutritional intervention in children with NI and malnutrition.

Various neurological and psychiatric manifestations have been recorded in children with adrenal disorders. Based on literature review and on personal case-studies and case-series we focused on the pathophysiological and clinical implications of glucocorticoid-related, mineralcorticoid-related, and catecholamine-related paediatric nervous system involvement. Childhood Cushing syndrome can be associated with long-lasting cognitive deficits and abnormal behaviour, even after resolution of the hypercortisolism. Exposure to excessive replacement of exogenous glucocorticoids in the paediatric age group (e.g., during treatments for adrenal insufficiency) has been reported with neurological and magnetic resonance imaging (MRI) abnormalities (e.g., delayed myelination and brain atrophy) due to potential corticosteroid-related myelin damage in the developing brain and the possible impairment of limbic system ontogenesis. Idiopathic intracranial hypertension (IIH), a disorder of unclear pathophysiology characterised by increased cerebrospinal fluid (CSF) pressure, has been described in children with hypercortisolism, adrenal insufficiency, and hyperaldosteronism, reflecting the potential underlying involvement of the adrenal-brain axis in the regulation of CSF pressure homeostasis. Arterial hypertension caused by paediatric adenomas or tumours of the adrenal cortex or medulla has been associated with various hypertension-related neurological manifestations. The development and maturation of the central nervous system (CNS) through childhood is tightly regulated by intrinsic, paracrine, endocrine, and external modulators, and perturbations in any of these factors, including those related to adrenal hormone imbalance, could result in consequences that affect the structure and function of the paediatric brain. Animal experiments and clinical studies demonstrated that the developing (i.e., paediatric) CNS seems to be particularly vulnerable to alterations induced by adrenal disorders and/or supraphysiological doses of corticosteroids. Physicians should be aware of potential neurological manifestations in children with adrenal dysfunction to achieve better prevention and timely diagnosis and treatment of these disorders. Further studies are needed to explore the potential neurological, cognitive, and psychiatric long-term consequences of high doses of prolonged corticosteroid administration in childhood.