Pediatric Reports

Coeliac disease (CD) is frequently underdiagnosed with a consequent heavy burden in terms of morbidity and health care costs. Diagnosis of CD is based on the evaluation of symptoms and anti-transglutaminase antibodies IgA (TGA-IgA) levels, with values above a tenfold increase being the basis of the biopsy-free diagnostic approach suggested by present guidelines. This study showcased the largest screening project for CD carried out to date in school children (n=20,000) aimed at assessing the diagnostic accuracy of minimally invasive finger prick point-of-care tests (POCT) which, combined with conventional celiac serology and the aid of an artificial intelligence-based system, may eliminate the need for intestinal biopsy. Moreover, this study delves deeper into the “coeliac iceberg” in an attempt to identify people with disorders who may benefit from a gluten-free diet, even in the absence of gastrointestinal symptoms, abnormal serology and histology. This was achieved by looking for TGA-IgA mucosal deposits in duodenal biopsy. This large European multidisciplinary health project paves the way to an improved quality of life for patients by reducing the costs for diagnosis due to delayed findings of CD and to offer business opportunities in terms of diagnostic tools and support. Full article

Myelosuppression, a potential adverse reaction of nafcillin and rifampin, is rarely documented in pediatric populations. The objective of this study is to describe the incidence of myelosuppression in pediatric patients receiving nafcillin or a combination of nafcillin and rifampin therapy. This retrospective chart review identified patients who received nafcillin alone or in combination with rifampin. The primary endpoint was the incidence of myelosuppression as a composite outcome. The secondary endpoints were the incidence of thrombocytopenia, anemia, and neutropenia individually. Of 199 patients in this study, 98 received nafcillin alone. There was no difference in the rates of myelosuppression between patients receiving nafcillin alone or in combination with rifampin (p = 0.0763), and the use of combination therapy did not affect the development of neutropenia (p = 0.2764) or thrombocytopenia (p = 0.1672). Patients receiving combination therapy were more likely to be anemic at the end of therapy (odds ratio [OR] = 2.333, 95% confidence interval [CI] 0.999, 5.446). Similarly, patients receiving longer durations of nafcillin were more likely to experience anemia (OR 1.774, 95% CI 1.382, 2.370) and neutropenia (OR 1.256, 95% CI 1.024, 1.540). The use of nafcillin does not significantly affect myelosuppression in pediatric patients, although longer durations of therapy may result in increased rates of neutropenia and anemia. Combination therapy with rifampin may result in increased rates of neutropenia. Full article

Based upon the lack of current information regarding the pediatric patient population at UNLV-SDM, the overall goal of this project was to analyze the demographic characteristics of this population, indicators for socioeconomic status (SES), such as enrollment in Medicaid, and other barriers to healthcare access, such as non-English/non-Spanish languages spoken. Using an Institutional Review Board (IRB)-approved protocol, this analysis revealed the percentage of minority pediatric patients between 2010 and 2020 increased among African Americans, Asian Americans, and mixed or multiracial patients, while decreasing among Hispanics. Analysis of the Limited English Proficiency (LEP) patients and guardians found an overall increase in the number of non-English/non-Spanish languages spoken from n = 4 in 2010 to n = 21 in 2020 with no significant changes in Medicaid/CHIP enrollment identified between 2010 and 2020 (76.7%, 77.9%, p = 0.988). These data suggest the composition of the patient population has experienced significant shifts over time, with more patients of mixed racial backgrounds and increased numbers of Limited English Proficiency (non-English/non-Spanish foreign languages) spoken. These data may suggest there is an increased need for multilingual health materials, training, and translators for pediatric oral health within this population. Full article

Recent studies identified pregnancy as a high-risk condition for the development of maternal-fetal complications in the case of the SARS-CoV-2 infection. Therefore, the scientific community is now considering pregnant women a “fragile” category that should be vaccinated with high priority. The number of pregnant women undergoing hospitalization since summer 2021, including Intensive Care Unit admission, is growing, as well as the risk of preterm birth. Evidence from both animals and humans suggest that, similarly to other vaccines routinely administered in pregnancy, COVID-19 vaccines are not crossing the placenta, do not increase the risk of miscarriage, preterm birth, stillbirth, the birth of small gestational age neonates, as well as the risk of congenital abnormalities. To date, the World Health Organization and scientific literature are promoting and encouraging the vaccination of all pregnant and lactating women. The aim of our narrative review is to present the available literature regarding this issue with the aim to provide appropriate answers to the most frequent requests, doubts, and fears that have led many expecting and lactating women not to become vaccinated during this pandemic period. Full article

During Integrated Multiparametric Neurophysiological Monitoring (IMNA), a newborn with suspected hypoxia at birth and microhaemorrhagic and ischaemic lesions presented some clonic-tonic episodes with specific EEG patterns characterized by rolandic and temporal spikes and the appearance of a unilateral enhanced Somatosensory Evoked Potential (SEP) (10.45 µv). Since the literature does not seem to describe cases of giant SEP in newborns, in this case report, we will discuss the hypotheses underlying this potential. It could be assumed that the ischaemic and haemorrhagic lesions presented by the newborn may have developed as a result of neurotransmitter balance failure. This may be the origin of the EEG picture, which, consequently, could have triggered a potential with high amplitude. Full article

Time-out, a mainstay of non-punitive discipline for over 60 years, has been criticized for isolating and distancing children from others. An alternative technique, one promoted by advocates of positive parenting practices, is labeled “time-in”. This procedure is intended to help the child connect to the parent, communicate their feelings, and learn how to self-regulate. Although the technique has been advocated in the positive parenting literature since at least the 1990s, there are few empirical studies evaluating it. This pilot mixed-models study was designed as an initial test to determine whether mothers, following a brief training, would use the procedure over a two-week period, and how they would view it. Based on the daily reports as well as post-intervention interview of a small sample of mothers, the technique was evaluated as easy to use and effective. This study provides initial information about mothers’ use of the technique and sets the stage for a comprehensive set of studies to rigorously test and evaluate the technique. Full article

Most preterm infants exhibit atypical and immature feeding skills. Even though preterm infants have fulfilled the oral feeding readiness criteria, they still do not have optimal oral feeding ability. This study aimed to determine various factors affecting oral feeding ability in Indonesian preterm infants who have fulfilled oral feeding readiness criteria but still have not been able to feed orally. A cross-sectional study included 120 preterm infants admitted to five tertiary hospitals in Jakarta, Indonesia. Participants were preterm infants born at 28–34 weeks gestational age who had fulfilled the oral feeding readiness as the inclusion criteria: (1) stable cardiorespiratory status, (2) have achieved full enteral feeding via orogastric tube (OGT) 120 mL/kg/day without vomiting or bloating, and (3) strong and rhythmic non-nutritive sucking (NNS) through objective measurement. Infants’ oral feeding ability and various factors that were assumed to affect oral feeding ability, including physiological flexion postural tone, physiological stability, rooting reflex, self-regulation, behavioral state, and level of morbidity were evaluated. Chi-square and multivariate analysis with Poisson regression were performed. Results indicated that postural tone, rooting reflex, physiological stability, self-regulation, behavioral state, and level of morbidity were significantly related to oral feeding ability in preterm infants. The most influencing factors were self-regulation with a prevalence ratio (PR) of 1.96 (1.16–3.34; CI 95%) and p = 0.012, followed by postural tone, high morbidity, and behavioral state (PR 1.91; 1.59; 1.56; CI 95%, respectively). In conclusion, despite meeting the oral feeding readiness criteria, most preterm infants were still not able to feed orally. There are other factors affecting oral feeding ability in Indonesian preterm infants. Full article

Childhood-onset systemic lupus erythematosus (cSLE) only represents 20% of all SLE patients, and males with SLE only represent 10%. To study this rare SLE subset, males diagnosed with cSLE over a 30-year period were identified. Organ involvement, autoantibody production, hypocomplementemia, and kidney biopsy findings were compared to cSLE females. Outcomes were assessed using SLE Disease Activity Index scores, Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index, and Childhood Arthritis and Rheumatology Research Alliance definitions for nephritis responsiveness. Of 95 males and 545 females with cSLE, 62% and 57% developed nephritis, respectively. Median age of cSLE onset was 14 years in both genders. Among males, 80% of non-Hispanic whites, 64% of blacks, 59% of Hispanics, and 50% of Asians developed nephritis. The prevalence of pure and mixed class V membranous nephritis was 33%. Median follow-up was 3.2 years (range 0.1–18). Complete kidney responses were seen in 70% after a median 24 months; however, relapse rates were 46%. Kidney disease flares were 56% nephritic and 44% proteinuric. Males and females with cSLE present with comparable rates and nephritis class. While overall and kidney response rates are favorable, kidney disease relapses are common among males. Full article

Background: Child musculoskeletal (MSK) diseases are common and, even if often benign, sometimes can lead to significant impairment in the future health of children. Italian pre-participation evaluation (PPE), performed by a sports medicine physician, allows for the screening of a wide range of children every year. Therefore, this study aims to evaluate the feasibility and the acceptability of pGALS (pediatric Gait, Arms, Legs and Spine) screening, a simple pediatric MSK screening examination, when performed as part of a routine PPE. Methods: Consecutive school-aged children attending a sports medicine screening program were assessed with the addition of pGALS to the routine clinical examination. Practicability (time taken) and patient acceptability (discomfort caused) were recorded. Results: 654 children (326 male, mean age 8.9 years) were evaluated through pGALS. The average time taken was 4.26 min (range 1.9–7.3 min). Acceptability of pGALS was deemed high: time taken was “adequate” (97% of parents) and caused little or no discomfort (94% of children). Abnormal MSK findings were common. Conclusions: pGALS is a practical and acceptable tool to perform in sports medicine PPE, even if performed by a non-expert in MSK medicine. Although common, abnormal MSK findings need to be interpreted in the global clinical context and assessment. Full article

The KCNQ2 gene, encoding for the K_v7.2 subunits of the K_v7 voltage potassium channel, is involved in the modulation of neuronal excitability and plays a crucial role in brain morphogenesis and maturation during embryonic life. De novo heterozygous mutations in KCNQ2 genes are associated with early-onset epileptic encephalopathy and neurodevelopmental disorders including developmental delay and intellectual disability. However, little is known about the socio-communicative phenotype of children affected by the KCNQ2 mutation, and a detailed behavioral characterization focused on autistic symptoms has not yet been conducted. This case report describes the clinical behavioral phenotype of a 6-year-old boy carrying a de novo heterozygous KCNQ2 mutation, affected by early-onset seizures and autism spectrum disorder (ASD). We performed a neuropsychiatric assessment of cognitive, adaptive, socio-communicative and autistic symptoms through the administration of standardized tools. The main contribution of this case report is to provide a detailed developmental and behavioral characterization focused on ASD symptoms in a child with [c.812 G > A; p. (Gly271Asp)]mutation in the KCNQ2 gene. Full article

Background. Drug-induced lupus (DIL) is an autoimmune phenomenon where the patient develops lupus-like symptoms after exposure to a long-term medication. Case Summary. Here we describe a 10-year-old female with absence seizures who developed a lupus-like syndrome after being on ethosuximide for three months. She presented with nephrotic syndrome (NS) and acute kidney injury. Four weeks prior to presentation, she had been prescribed a seven-day course of oral amoxicillin for submental swelling after dental extraction. Investigations showed high titer of antinuclear antibody (ANA) and anti-double stranded DNA, elevated serum IgE level, and positive Coombs’ test, along with positive anti-histone antibodies. Renal biopsy showed features of acute tubulointerstitial nephritis (TIN) and partial podocyte foot process effacement without evidence of lupus nephritis. The patient had an excellent response to the steroid therapy with remission within two weeks. The patient remained in remission for two months as evaluated during the most recent follow-up; the autoimmune antibodies and immunoglobulin E trended down. Ethosuximide has been reported to cause DIL, however its possible association with TIN has not been reported. Although amoxicillin could have caused the TIN and NS in this patient, a possible novel association of ethosuximide with this nephrotic-nephritic presentation (NNP) cannot be ruled out. Conclusions. A renal histology is important to determine the accurate etiology of NNP in patients with DIL. Further studies are necessary to determine any possible causal effect of ethosuximide with NNP. Full article

Introduction: The coronavirus disease 2019 pandemic necessitated a shift to telemedicine for many clinics. This study aimed to better understand patient perception regarding telemedicine visits in a pediatric subspecialty clinic and to describe differences in management provided virtually versus in-person. Materials and Methods: This survey study and chart review was conducted at the Doernbecher Children’s Hospital gastroenterology outreach clinics from May to June, 2020. The main hospital is located in Portland, Oregon, with the outreach clinics located in Salem, Eugene, and Medford, Oregon. Families were surveyed within 2 weeks of their visit, with a 6-month follow up survey. Results: There were 111 respondents to the initial survey (34% response rate). The majority of patients had initial positive impressions of telemedicine, with 75% feeling that the quality of telemedicine visits were as good as or better than in-person visits. At 6 months, there were 80 respondents (34% response rate), and this positive impression persisted with 72% of families reporting no negatives from their telemedicine experience. New patients seen via telemedicine were prescribed medications more frequently than those seen in-person (73% versus 45%, p = 0.02). Discussion: Patients and families felt the benefits of telemedicine visits outweighed the limitations both initially and at 6-month follow up. Telemedicine offers an effective alternative for pediatric subspecialty care especially for select conditions and follow up visits. However, the more frequent prescriptions could reflect the adaptation of clinical practice with the telemedicine platform, and further studies are needed. Full article

Tuberculous meningitis (TBM) is a severe form of tuberculosis. We report the development of fatal TBM in a 2-year-old previously healthy child, suggesting that TBM must be evaluated in children of all ages with non-specific symptoms of central nervous involvement because a diagnostic delay induces a negative prognosis. Full article

Fish roe are not yet described as triggers of allergic reactions in Italy, especially during the pediatric age; they are more frequently involved in anaphylaxis in Eastern countries, such as Japan. For this report, we reported a case of anaphylaxis in a 2-year-old boy admitted to our Hospital Pediatric Emergency Room with a suspected allergic reaction. 15 min after the meal, he presented generalized urticaria, angioedema, wheezing, sneezing, and two vomiting episodes. The meal was smoked salmon, butter, mayonnaise, anchovies, and fish roe (salmon and lumpfish roe). Tryptase serum levels presented as elevated in the acute phase and normal after 24 h. Serum food-specific IgE tested negative for salmon and other fish, such as skin prick tests. Serum food-specific IgE showed that the patient was sensitized to cow’s milk and eggs, but he doesn’t have a food allergy. He had regularly consumed milk and eggs before and after the allergic reaction without clinical problems. A prick-by-prick test resulted positive for fish roe (salmon and lumpfish roe). Based on patient’s history, allergy test results in vivo, and tryptase serum levels, the diagnosis of anaphylaxis induced by fish roe was confirmed. In conclusion, to the best of our knowledge, this is the first pediatric case of fish roe-induced anaphylaxis reported in Italy. Full article

In Japan, the prevalence of low birth weight (LBW) has been estimated to be approximately 10%, which is the highest among developed countries. This high prevalence might affect the occurrence of LBW-associated diseases in the adult population of Japan. LBW has been recognized as a contributing factor to post-adaptive focal segmental glomerulosclerosis (FSGS) in adulthood; however, few reports to date have evaluated the clinical and pathological characteristics of post-adaptive FSGS. A 13-year-old girl was referred to our hospital owing to mild proteinuria, which was detected at a school urinary screening. She was born at a gestational age of 23 weeks, with a very LBW of 630 g. Dipstick urinalysis revealed grade (2+) proteinuria. Her serum creatinine level was 1.02 mg/dL, and she was diagnosed as having stage 2 chronic kidney disease (CKD). Her serum uric acid level was 7 mg/dL. Furthermore, her mother and 16-year old brother had hyperuricemia. A percutaneous renal biopsy leads to a diagnosis of FSGS. After 3 years of treatment with an angiotensin receptor blocker, her proteinuria decreased. However, her serum creatinine level was 1.07 mg/dL, and she still had stage 2 CKD. We considered that in this patient, the first hit was her LBW, and the second hit was hyperuricemia. The second hit might be associated with the development of CKD. The birth history of patients is not usually confirmed by nephrologists. Our case demonstrates that obtaining information regarding the preterm birth and LBW of patients is important in the diagnosis of noncommunicable diseases because school urinary screening is not routinely performed in countries other than Japan. Full article

Respiratory syncytial virus (RSV) is a lead cause of morbidity and hospitalizations in infants. RSV vaccines are currently under development, and preventive options are limited to monoclonal antibodies (mAb). We assessed the knowledge, attitudes and practices for RSV in a sample of general practitioners (GPs) from north-eastern Italy (2021), focusing on the risk perception for infants (age < 8 years) and its potential effectors. We administered an internet survey to 543 GPs, with a response rate of 28.9%. Knowledge status was unsatisfactory, with substantial knowledge gaps found on the epidemiology of RSV and its prevention through mAb. The main effectors of risk perception were identified as having a background in pediatrics (adjusted odds ratio (aOR): 55.398 and 95% confidence interval (95% CI): 6.796–451.604), being favorable towards RSV vaccines when available (aOR: 4.728, 95% CI: 1.999–11.187), while having previously managed an RSV case (aOR: 0.114, 95% CI: 0.024–0.552) and previously recommended hospitalization for cases (aOR: 0.240, 95% CI: 0.066–0.869) were identified as negative effectors. In summary, the significant extent of knowledge gaps and the erratic risk perception, associated with the increasing occurrence in RSV infections, collectively stress the importance of appropriate information campaigns among primary care providers. Full article

(1) Introduction: Recurrent diaphragmatic hernia is a relevant diagnostic and treatment dilemma. We have presented a patient with ingrowing liver as an atypical diaphragmatic hernia recurrence and discussed major aspects of diagnostic methods and the selection of an appropriate operative treatment. (2) Case description: We discuss a case of a patient with right-sided recurrent CDH (Congenital Diaphragmatic Hernia) who had primary thoracoscopic repair in newborn period. During infancy and early childhood, the patient presented recurrent upper and lower respiratory tract infections and bronchial hyperreactivity. The clinical picture was initially unclear. A CT scan was inconclusive to diagnose a recurrence. The patient was scheduled to have a re-thoracoscopy. A part of the liver was herniated into the pleural cavity. This fragment of ‘ingrowing’ liver was removed, and the diaphragmatic secondary defect was repaired. (3) Conclusions: This case proved that thoracoscopy can be a preferred technique in the diagnosis and treatment of CDH recurrence. Full article

Diagnosis of pediatric intellectual disability (ID) can be difficult because it is due to a vast number of established and novel causes. Here, we described a full-term female infant affected by Kleefstra syndrome-2 presenting with neurodevelopmental disorder, a history of hypotonia and minor face anomalies. A systematic literature review was also performed. The patient was a 6-year-old Caucasian female. In the family history there was no intellectual disability or genetic conditions. Auxological parameters at birth were adequate for gestational age. Clinical evaluation at 6 months revealed hypotonia and, successively, delay in the acquisition of the stages of psychomotor development. Auditory, visual, somatosensory, and motor-evoked potentials were normal. A brain MRI, performed at 9 months, showed minimal gliotic changes in bilateral occipital periventricular white matter. Neuropsychiatric control, performed at 5 years, established a definitive diagnosis of childhood autism and developmental delay. Molecular analysis of the exome revealed a novel KMT2C missense variant: c.9244C > T (p.Pro3082Ser) at a heterozygous state, giving her a diagnosis of Kleefstra syndrome 2. Parents did not show the variant. Literature review (four retrieved eligible studies, 10 patients) showed that all individuals had mild, moderate, or severe ID; language and motor delay; and autism. Short stature, microcephaly, childhood hypotonia and plagiocephaly were also present. Conclusion. Kleefstra syndrome 2 is a difficult diagnosis of a rare condition with a high clinical phenotypic heterogeneity. This study suggests that it must be taken in account in the work-up of an orphan diagnosis of intellectual disability and/or autism spectrum disorder. Full article