An international multidisciplinary consensus on pediatric metabolic dysfunction-associated fatty liver disease.

BACKGROUND: Non-alcoholic fatty liver disease (NAFLD) is highly prevalent in children and adolescents, particularly those with obesity. NAFLD is considered a hepatic manifestation of the metabolic syndrome due to its close associations with abdominal obesity, insulin resistance, and atherogenic dyslipidemia. Experts have proposed an alternative terminology, metabolic dysfunction-associated fatty liver disease (MAFLD), to better reflect its pathophysiology. This study aimed to develop consensus statements and recommendations for pediatric MAFLD through collaboration among international experts. METHODS: A group of 65 experts from 35 countries and six continents, including pediatricians, hepatologists, and endocrinologists, participated in a consensus development process. The process encompassed various aspects of pediatric MAFLD, including epidemiology, mechanisms, screening, and management. FINDINGS: In round 1, we received 65 surveys from 35 countries and analyzed these results, which informed us that 73.3% of respondents agreed with 20 draft statements while 23.8% agreed somewhat. The mean percentage of agreement or somewhat agreement increased to 80.85% and 15.75%, respectively, in round 2. The final statements covered a wide range of topics related to epidemiology, pathophysiology, and strategies for screening and managing pediatric MAFLD. CONCLUSIONS: The consensus statements and recommendations developed by an international expert panel serve to optimize clinical outcomes and improve the quality of life for children and adolescents with MAFLD. These findings emphasize the need for standardized approaches in diagnosing and treating pediatric MAFLD. FUNDING: This work was funded by the National Natural Science Foundation of China (82070588, 82370577), the National Key R&D Program of China (2023YFA1800801), National High Level Hospital Clinical Research Funding (2022-PUMCH-C-014), the Wuxi Taihu Talent Plan (DJTD202106), and the Medical Key Discipline Program of Wuxi Health Commission (ZDXK2021007).

Effect of nutrition-related infodemics and social media on maternal experience: A nationwide survey in a low/middle income country.

BACKGROUND: Undernutrition is a crucial cause of morbidity and mortality among children in low- or middle-income countries (LMICs). A better understanding of maternal general healthy nutrition knowledge, as well as misbeliefs, is highly essential, especially in such settings. In the current era of infodemics, it is very strenuous for mothers to select not only the right source for maternal nutrition information but the correct information as well. AIM: To assess maternal healthy nutritional knowledge and nutrition-related misbeliefs and misinformation in an LMIC, and to determine the sources of such information and their assessment methods. METHODS: This cross-sectional analytical observational study enrolled 5148 randomly selected Egyptian mothers who had one or more children less than 15 years old. The data were collected through online questionnaire forms: One was for the general nutrition knowledge assessment, and the other was for the nutritional myth score. Sources of information and ways of evaluating internet sources using the Currency, Relevance, Authority, Accuracy, and Purpose test were additionally analyzed. RESULTS: The mean general nutrition knowledge score was 29 ± 9, with a percent score of 70.8% ± 12.1% (total score: 41). The median myth score was 9 (interquartile range: 6, 12; total score: 18). The primary sources of nutrition knowledge for the enrolled mothers were social media platforms (55%). Half of the mothers managed information for currency and authority, except for considering the author's contact information. More than 60% regularly checked information for accuracy and purpose. The mothers with significant nutrition knowledge checked periodically for the author's contact information (P = 0.012). The nutrition myth score was significantly lower among mothers who periodically checked the evidence of the information (P = 0.016). Mothers dependent on their healthcare providers as the primary source of their general nutritional knowledge were less likely to hold myths by 13% (P = 0.044). However, using social media increased the likelihood of having myths among mothers by approximately 1.2 (P = 0.001). CONCLUSION: Social media platforms were found to be the primary source of maternal nutrition information in the current era of infodemics. However, healthcare providers were the only source for decreasing the incidence of maternal myths among the surveyed mothers.

Health-related quality of life and cognitive function in children with Crigler-Najjar syndrome type 1.

BACKGROUND: The aim of the study was to assess the health-related quality of life (HRQOL) and cognitive function in patients with Crigler-Najjar syndrome (CNS) type I and its impact on their lives. METHODS: Twenty-one patients diagnosed with CNS type I aged 1 month to 18 years in the Paediatric Hepatology Unit of Cairo University Children's Hospital were enrolled in this cross-sectional observational study. The patients' health-related quality of life (HRQOL) was assessed using the World Health Organization Quality Of Life BREF questionnaire (WHOQOL-BREF) and the Short Form 36 Health Survey Questionnaire (SF-36). Cognitive function was assessed using the Stanford-Binet Intelligence Scale: Fifth Edition (SB5). RESULTS: All patients had a history of admission to a neonatal intensive care unit, 17 were managed by phototherapy only and 5 also underwent exchange transfusion. According to the WHOQOL questionnaire, 11 cases (52.4%) had a low QOL score, and 7 of 13 patients had an average score for their total IQ test. Cases with poor compliance to phototherapy had statistically significantly lower QOL scores (p=0.001), while, according to the SF36 survey, cases who received exchange transfusion had statistically significantly higher cognitive function (p=0.03). There was a positive correlation between the neurological effect as a complication of the disease and poor physical QOL. CONCLUSION: Paediatric patients with CNS have significantly lower HRQOL, especially physically, psychologically and environmentally. It is recommended that assessment of HRQOL should be a routine part of follow-up in CNS patients. Patients whose HRQOL is affected receive regular psychiatric counselling, social support and rehabilitation.Abbreviations: CNS: Crigler-Najjar syndrome; HRQOL: health-related quality of life; IQ: intelligence quotient; NICU: neonatal intensive care unit; QOL: quality of life; SB5: Stanford-Binet intelligence scale: 5th edition; SF-36: Short Form 36 Health Survey Questionnaire; UDGT: uridine diphosphate glucuronosyl transferase; UGT1A1: uridine 5'-diphosphate glucuronosyltransferase; WHOQOL-BREF: World Health Organization Quality of Life Brief Version.

Effect of medium chain triglycerides enriched formula on growth of biliary atresia patients after Kasai portoenterostomy.

BACKGROUND AND STUDY AIMS: Biliary atresia (BA) is the most common cause of neonatal cholestasis, negatively affecting nutritional status, growth, and development. It is the most frequent paediatric indication for liver transplantation. The Kasai portoenterostomy (KPE) operation is an effective procedure with favourable outcomes when performed before two months of age. The present study aimed to assess the nutritional status of patients with biliary atresia who underwent the Kasai operation and to evaluate the effectiveness of nutritional counselling using medium-chain triglyceride (MCT) formulas and proper supplementation on their nutritional status, growth, and vitamin D levels. PATIENTS AND METHODS: This prospective observational study included 36 infants with biliary atresia who underwent Kasai portoenterostomy. All patients underwent clinical assessment, anthropometric evaluation, nutritional counselling, and an evaluation of vitamin D levels. Only compliant patients (22/36) were followed up after 3 and 6 months of nutritional counselling. RESULTS: Z-scores for weight, triceps skinfold thickness, and mid-upper arm circumference improved significantly after three months, and the height velocity Z-score improved after six months of nutritional counselling using an MCT-containing formula and supplementations. Patients who showed an improvement in cholestasis had better responses. The initial assessment revealed low serum levels of 25-hydroxyvitamin D in 77.8 %, which increased significantly (p = 0.012). CONCLUSION: Dietary intervention and supplementation with MCT and micronutrients can improve the nutritional status of children with BA following KPE.

Value of Nutritional Screening Tools Versus Anthropometric Measurements in Evaluating Nutritional Status of Children in a Low/Middle-Income Country.

Purpose: Pediatric patients in low-income countries are at a high risk of malnutrition. Numerous screening tools have been developed to detect the risk of malnutrition, including the Subjective Global Nutritional Assessment (SGNA), Pediatric Yorkhill Malnutrition Score (PYMS), Screening Tool for the Assessment of Malnutrition in Pediatrics (STAMP), and Screening Tool for Risk of Nutritional Status and Growth (STRONGkids). However, anthropometry remains the main tool for assessing malnutrition. We aimed to identify the value of four nutritional screening tools versus anthropometry for evaluating the nutritional status of children. Methods: We conducted a cross-sectional study of 1,000 children aged 1-12 years who visited the outpatient clinic of Cairo University Pediatric Hospital. Each participant was evaluated using anthropometric measurements (weight, length/height, and weight for length/height) as well as the PYMS, STAMP, STRONGkids, and SGNA screening tools. The sensitivities and specificities of these four tools were assessed using anthropometry as the gold standard. Results: Of the patients, 1.7% were underweight, 10.2% were wasted, and 35% were stunted. STRONGkids demonstrated the highest sensitivity (79.4%) and a high specificity (80.2%) for detecting malnutrition compared with weight for height, followed by STAMP, which demonstrated lower sensitivity (73.5%) but higher specificity (81.4%). PYMS demonstrated the lowest sensitivity (66.7%) and the highest specificity (93.5%), whereas SAGA demonstrated higher sensitivity (77.5%) and lower specificity (85.4%) than PYMS. Conclusion: The use of nutritional screening tools to evaluate the nutritional status of children is valuable and recommended as a simple and rapid method for identifying the risk of malnutrition in pediatric patients.

The added value of brain MR spectroscopy in children with Crigler-Najjar syndrome type-I: correlation with demographic, neurodevelopmental, and laboratory findings.

OBJECTIVE: The aim of this study is to demonstrate the role of proton magnetic resonance spectroscopy (1H-MRS) in the detection of brain microstructural changes in patients with Crigler-Najjar syndrome type-I (CNs-I), and its correlation with demographic, neurodevelopmental and laboratory findings. METHODS: Prospective study was conducted on 25 children with CNs-I and 25 age and sex-matched children, who served as control. They underwent multivoxel 1H-MRS of basal ganglion at echo time 135-144 ms. N-acetyl aspartate/Creatine (NAA/Cr) and Choline (Ch)/Cr were calculated and correlated with demographic, clinical, and laboratory findings of patients with CNs-I. RESULTS: There was a significant difference in NAA/Cr and Ch/Cr between patients and controls. The cut-off value for NAA/Cr and Ch/Cr used to differentiate patients from controls were 1.8 and 1.2 with an area under the curve (AUC) of 0.91 and 0.84 respectively. There was a significant difference in MRS ratios between patients with neurodevelopmental delay (NDD) and patients without NDD. The cut-off values for NAA/Cr and Ch/Cr used to differentiate between patients with NDD and patients without NDD were 1.47 and 0.99, with AUC of 0.87 and 0.8 respectively. The NAA/Cr and Ch/Cr were well correlated with family history (p = 0.006 and p < 0.001) respectively, consanguinity (p < 0.001 and p = 0.001), neurodevelopmental delay (p = 0.001 and p = 0.004), serum bilirubin level (r = -0.77, p < 0.001), (r = -0.49, p = 0.014), phototherapy (p < 0.001 and p = 0.32), blood transfusion (p < 0.001 and p = 0.001) respectively. CONCLUSION: 1H-MRS can be a useful tool in the detection of neurological changes in patients with CNs-I; NAA/Cr and Ch/Cr parameters are well correlated with demographic, clinical, and laboratory findings. ADVANCES IN KNOWLEDGE: Our study is the first report on using MRS in assessing neurological manifestations in CNs. 1H-MRS can be a useful tool in the detection of neurological changes in patients with CNs-I.

Patterns of respiratory tract infections in children under 5 years of age in a low-middle-income country.

BACKGROUND: Respiratory tract infections (RTIs) are among the most commonly encountered major public health problems, with a higher prevalence of lower RTIs among children and more generally the poor. The present study aimed to describe the pattern of respiratory tract infections in Egyptian children aged under 5 years and explore possible associations between socio-demographics and nutritional status and types of RTIs. METHODS: Over 6 months beginning in September 2018 (including one winter season), a cross-sectional, observational, epidemiological study was conducted on a sample of patients with upper and lower RTIs diagnosed clinically and/or radiologically in the outpatient clinics at Cairo University Children's Hospital in Egypt. An interview questionnaire was employed to collect socio-demographic and nutritional data. Heights/lengths and weights were measured and analyzed using the World Health Organization's (WHO) Anthro Plus [Computer Program]. Patients with pneumonia (n = 28) were compared to 97 healthy children of the same age and sex. RESULTS: The total number of children diagnosed with upper and lower respiratory infections was 611. Malnutrition was present in 12.4% of all children with upper and lower RTIs. Lower RTI and malnutrition were substantially more prevalent among children aged under 2 years (p = 0.048 and p < 0.001, respectively). The strongest predictor of lower RTI was a younger age (OR 0.797, CI 0.713-0.89, p < 0.001). CONCLUSION: At our center, approximately one-third of infections in under-fives were lower RTI. Malnutrition was one of the significant risk factors for lower RTI in children below 2 years. The nutritional status of infants and young children should be improved by encouraging exclusive breastfeeding during the first 6 months of life and strengthening the healthcare and nutritional counseling available for vulnerable children, particularly in rural regions.

A New Perspective on the Quality of Life of Children with Glycogen Storage Diseases.

Purpose: This study aimed to assess the quality of life (QoL) of children with glycogen storage disease (GSD) and their parents and to determine the impact of myopathies. Methods: A prospective case-control study was conducted at the Cairo University Children's Hospital and National Liver Institute, Menoufia University. A promising new style of questionnaire called the Stark Quality of Life Questionnaire was used to assess the quality of life. Results: Fifty-two children diagnosed with GSD (cases) and 55 age- and sex-matched healthy children (controls) were included. A statistically significant difference was found between cases and controls regarding food intake; mental behavior parameters such as mood, energy, and social contact; and physical behavior parameters such as running and tying shoelaces. Children with myopathies had significantly lower QoL scores in most of the parameters. Conclusion: GSDs alter children and their parents' mental and physical abilities. Lower QoL scores were detected in children with both skeletal myopathy and cardiomyopathy, but the difference was not statistically significant when compared with the children without myopathies.

Case Report: Dubin-Johnson Syndrome Presenting With Infantile Cholestasis: An Overlooked Diagnosis in an Extended Family.

Dubin-Johnson syndrome (DJS) is an often-missed diagnosis of neonatal cholestasis. We report two patients with DJS, who presented with neonatal cholestasis. The first patient underwent extensive investigations for infantile cholestasis with no definitive etiology reached; the diagnosis of DJS was missed until the age of 14 years old. The diagnosis was confirmed genetically with c.2273G > T, p.G758V mutation in exon 18 of the ABCC2 gene. The 2nd patient is a 7-day-old baby, the son of the 1st patient who gave birth to him at the age of 21 years old. He was diagnosed with DJS at the age of 2 weeks based on normal clinical and laboratory workup apart from direct hyperbilirubinemia. He had the same mutation as his mother in homozygous status. The husband was heterozygous for the same mutation. DJS is one of the often-missed differential diagnoses of neonatal cholestasis. It should be suspected in patients of infantile cholestasis, who have an, otherwise, normal physical examination, and laboratory investigations to avoid unnecessary lengthy, invasive, and expensive workups.

Serologic, endoscopic and pathologic findings in pediatric celiac disease: A single center experience in a low/middle income country.

BACKGROUND: Studies in Africa, Asia, and Latin America are needed to provide a comprehensive picture of the global incidence of celiac disease (CD). AIM: To describe the serology, endoscopic and histological findings in typical and atypical presentations of pediatric CD at a tertiary referral hospital in an African low/middle income country (LMIC). METHODS: This observational study was conducted on 199 patients with CD from 2010 to 2019. The patients were divided into typical and atypical groups according to the presenting symptoms including 120 and 79 patients respectively. Serology, upper gastrointestinal endoscopy with duodenal biopsy were performed for patients who had symptoms suggestive of CD. The severity of the intestinal damage was graded according to the histo-pathologic Marsh-Oberhuber classification. RESULTS: Chronic diarrhea was the main intestinal presentation in the typical group. Anemia was the most common extraintestinal symptom in both the typical and atypical group. Marsh-Oberhuber type 3b and 3c was significantly higher in the seropositive patients with a P value of 0.007. A significant correlation was observed between the histological grade of the biopsied duodenal mucosa and the clinical presentation (P < 0.001). Age was significantly higher in the atypical group (P value < 0.001). CONCLUSION: Although typical CD was observed in 120 patients in this study, the clinical variability of the condition was frequently observed. Age only was a significant predictor for the appearance of atypical CD. Therefore, CD presentations in LMIC are not different from industrialized countries.

Facial Asymmetry in a Newly Born Baby: Diagnostic Challenge!

Introduction: Facial asymmetry during crying in neonates is an important entity which might be due to an underlying true paralysis of the facial nerve or due to the benign overlooked diagnosis of congenital absence of the depressor angularis oris muscle (DAOM). Case Report: We report a full-term newborn delivered by normal spontaneous vertex delivery with uneventful pregnancy and Apgar score of 9 and 10 at 1 and 5 minutes respectively. His parents are first-degree cousins with 4 living normal siblings. His birth weight was appropriate for his gestational age. His initial neonatal assessment was normal apart from facial asymmetry during crying in the form of deviation of the angle of the mouth to the left with an otherwise normal facial appearance. The facial asymmetry disappears at rest (without crying). This condition usually poses a diagnostic dilemma. Developmental and traumatic facial paralysis and being part of some syndromes like Mobius and CHARGE syndromes are among the most important differential diagnosis but the disappearance of the facial asymmetry at rest is diagnostic of absent DAOM which is a relatively common but missed diagnosis. Conclusions: Pediatricians should be aware about the diagnosis of DAOM in neonates with asymmetric crying face if the face was completely normal at rest with deviation of the angle of the mouth on crying which disappears on rest.

Diffusion Tensor Imaging of Auditory Pathway in Patients With Crigler-Najjar Syndrome Type I: Correlation With Auditory Brainstem Response.

AIM: To evaluate the role of diffusion tensor imaging of the auditory pathway in patients with Crigler Najjar syndrome type I and its relation to auditory brainstem response. METHODS: Prospective study was done including 12 patients with Crigler Najjar syndrome type I and 10 age- and sex-matched controls that underwent diffusion tensor imaging of brain. Mean diffusivity and fractional anisotropy at 4 regions of the brain and brainstem on each side were measured and correlated with the results of auditory brainstem response for patients. RESULTS: There was significantly higher mean diffusivity of cochlear nucleus, superior olivary nucleus, inferior colliculus, and auditory cortex of patients versus controls on both sides for all regions (P = .001). The fractional anisotropy of cochlear nucleus, superior olivary nucleus, inferior colliculus, and auditory cortex of patients versus controls was significantly lower, with P values of, respectively, .001, .001, .003, and .001 on the right side and .001, .001, .003, and .001 on left side, respectively. Also, a negative correlation was found between the maximum bilirubin level and fractional anisotropy of the left superior olivary nucleus and inferior colliculus of both sides. A positive correlation was found between the mean diffusivity and auditory brainstem response wave latency of the right inferior colliculus and left cochlear nucleus. The fractional anisotropy and auditory brainstem response wave latency of the right superior olivary nucleus, left cochlear nucleus, and inferior colliculus of both sides were negatively correlated. CONCLUSION: Diffusion tensor imaging can detect microstructural changes in the auditory pathway in Crigler Najjar syndrome type I that can be correlated with auditory brainstem response.