Pediatr. Rep., Volume 13, Issue 2 (June 2021) – 20 articles

While the Coronavirus Disease 2019 (COVID-19) pandemic continues to wreak havoc across the nation and the globe as one of the most significant global health crises of our time, recent attention has been turned to the effects of COVID-19 on pregnancy and the puerperium. Although most cases have been asymptomatic, for some patients, the disease may be accompanied by serious complications such as pneumonia, acute respiratory distress, multi organ failure, and death. Several case studies have noted that patients with co-morbidities are at a significant risk of these complications. In a recent systematic review and meta-analysis, authors conclude that cardiovascular disease was associated with increased composite poor outcome in patients with COVID-19. The following case report highlights the multi-system complications and severity of symptoms that can take place after childbirth in a patient with co-morbid obstetric and prenatal conditions and an initially asymptomatic COVID-19 infection. Full article

Age-groups are commonly implemented in education and sports in order to provide fair and equal opportunities. Various studies, however, have shown a competitive advantage for early born children over their relatively younger peers, which is referred to as relative age effect. The present study examined differences in various components of physical fitness in Austrian elementary-school children. A total of 18,168 children (51% boys) between 6 and 11 years of age provided valid data on anthropometric characteristics and physical fitness. Specifically, children completed eight fitness tests that assessed cardiorespiratory endurance, muscular strength and power, speed, agility, flexibility and object control. Across age-specific quartiles, older children were significantly taller and heavier than their younger peers. Older children also displayed better performance for strength and power, speed, agility and object control, while differences in cardio-respiratory endurance were less pronounced. These results highlight the presence of a relative age effect during the elementary school years and emphasize the need to consider individual differences in the evaluation of children’s performance. As all children should be given equal opportunities to engage successfully in physical education and sports, physical education teachers and youth coaches need to be educated on the implications of a relative age effect. Full article

The increased prevalence of non-alcoholic fatty liver disease (NAFLD) requires special attention in pediatric patients, as it manifests in them in a more severe and progressive way compared to adults. The implementation of the appropriate therapeutic interventions is determinant of the attempts to treat it. For that purpose, early diagnosis and staging of the disease is essential. The purpose of this review was to find and reveal the most appropriate diagnostic strategies and tools for diagnosis and staging of pediatric NAFLD/NASH based on their accuracy, safety and effectiveness. The methodology followed was that of the literature review. Particular emphasis was put on the recent bibliography. A comparative study of published articles about the diagnosis and management of pediatric NAFLD/NASH was also performed. In terms of diagnosis, the findings converged on the use of classical ultrasound. Ultrasound presented average sensitivity and specificity for diagnosing the disease in children, while in the adult population, sensitivity and specificity were significantly higher. Proton density fat fraction magnetic resonance imaging has been increasingly used for the diagnosis of steatosis in pediatric patients. Elastography is an effective tool for staging liver fibrosis and discriminating NASH from NAFLD in children. Even though liver biopsy is the gold standard, especially for NASH, it should be avoided for pediatric patients. Biochemical tests are less specific and less sensitive for the diagnosis of NAFLD, and some of them are of high cost. It seems that diagnostic imaging should be a first-line tool for the staging and monitoring pediatric NAFLD/NASH in order for appropriate interventions to be implanted in a timely way. Full article

(1) Background: The study aims to identify which imaging parameters are necessary for a new correct surgical approach in the study of choanal atresia, and which anatomical findings are essential for correct planning of endoscopic treatment in choanal atresia. (2) Methods: In this retrospective study, 19 patients with choanal atresia had high-resolution multiplanar imaging (14 cases aged ≤1 year and 5 cases aged 1 to 3 years) and 35 patients in the control group similarly distributed by age. Fourteen variables, the most relevant from a surgical point of view, were selected and measured. A comparison was made between the averages of the study group and the different control groups, either directly observed or selected from the literature, using Pearson’s correlation. (3) Results: In 14 out of 26 cases, the differences were statistically significant. There was a correlation between the structures assessed, such as choanal height, rostrum height, and age. (4) Conclusions: Thanks to volumetric reformatting, this work identified and provided the clinician with useful information that helped choose the correct surgical approach. Furthermore, it focused on which imaging parameters are necessary to improve the planning of the surgical correction of choanal atresia. Full article

The COVID-19 pandemic has affected maternal and infant health globally both directly from infection with the SARS-CoV-2 virus and indirectly from changes in health care resulting from social, economic, and health care policies unique to each country. The developing countries have to share the disproportionate burden on maternal and infant health. In this review, we discuss the uncertainties resulting from SARS-CoV-2 infection in pregnancy, vertical transmission of the virus, and its effects on breastfeeding of the newborn. The problems of families and communities caring for mothers with COVID-19 and its impact on breastfeeding in newborns are discussed. The challenges posed by the pandemic have forced us to think and devise innovative solutions, including telemedicine help for antenatal counseling, breastfeeding education, and lactation support. Optimal utilization of resources and technology to find creative solutions at the individual and the community level will help in facilitating maternal–infant bonding soon after birth. Appropriate health care policies to support pregnant and lactating mothers will go a long way in meeting healthy child development goals. Full article

To examine whether BMI-associated genetic risk variants modify the association of intrauterine diabetes exposure with childhood BMI z-scores, we assessed the interaction between 95 BMI-associated genetic variants and in utero exposure to maternal diabetes among 459 children in the Exploring Perinatal Outcomes among Children historical prospective cohort study (n = 86 exposed; 373 unexposed) in relation to age- and sex-standardized childhood BMI z-scores (mean age = 10.3 years, standard deviation = 1.5 years). For the genetic variants showing a nominally significant interaction, we assessed the relationship in an additional 621 children in Project Viva, which is an independent longitudinal cohort study, and used meta-analysis to combine the results for the two studies. Seven of the ninety-five genetic variants tested exhibited a nominally significant interaction with in utero exposure to maternal diabetes in relation to the offspring BMI z-score in EPOCH. Five of the seven variants exhibited a consistent direction of interaction effect across both EPOCH and Project Viva. While none achieved statistical significance in the meta-analysis after accounting for multiple testing, three variants exhibited a nominally significant interaction with in utero exposure to maternal diabetes in relation to offspring BMI z-score: rs10733682 near LMX1B (interaction β = 0.39; standard error (SE) = 0.17), rs17001654 near SCARB2 (β = 0.53; SE = 0.22), and rs16951275 near MAP2K5 (β = 0.37; SE = 0.17). BMI-associated genetic variants may enhance the association between exposure to in utero diabetes and higher childhood BMI, but larger studies of in utero exposures are necessary to confirm the observed nominally significant relationships. Full article

The COVID-19 pandemic has led to an unprecedented closure of schools in terms of duration. The option of school closure, SARS-CoV-2 initially being poorly known, was influenced by the epidemiological aspects of the influenza virus. However, school closure is still under debate and seems unsupported by sure evidence of efficacy in the COVID-19 era. The aim of our narrative review is to discuss the available literature on SARS-CoV-2 spread among children and adolescents, in the school setting, trying to explain why children appear less susceptible to severe disease and less involved in viral spreading. We also tried to define the efficacy of school closure, through an overview of the effects of the choices made by the various countries, trying to identify which preventive measures could be effective for a safe reopening. Finally, we focused on the psychological aspects of such a prolonged closure for children and adolescents. SARS-CoV-2, children, COVID-19, influenza, and school were used as key words in our literature research, updated to 29 March 2021. To our knowledge, this is the first review summarizing the whole current knowledge on SARS-CoV-2 spreading among children and adolescents in the school setting, providing a worldwide overview in such a pandemic context. Full article

The taste and food preferences in children can affect their food intake and body weight. Bitter and sweet taste sensitivities were identified as primary taste contributors to children’s preference for consuming various foods. This pilot study aimed to determine the taste sensitivity and preference for bitter and sweet tastes in a sample of Malaysian children. A case–control study was conducted among 15 pairs of Malay children aged 7 to 12 years. Seven solutions at different concentrations of 6-n-propylthiouracil and sucrose were prepared for testing bitterness and sweet sensitivity, respectively. The intensity of both bitter and sweet sensitivity was measured using a 100 mm Labelled Magnitude Scale (LMS), while the taste preference was rated using a 5-point Likert scale. The participants were better at identifying bitter than sweet taste (median score 6/7 vs. 4/7). No significant differences were detected for both tastes between normal-weight and overweight groups (bitter: 350 vs. 413, p = 0.273; sweet: 154 vs. 263, p = 0.068), as well as in Likert readings (bitter 9 vs. 8: p = 0.490; sweet 22 vs. 22: p = 0.677). In this sample of Malay children, the participants were more sensitive to bitterness than sweetness, yet presented similar taste sensitivity and preference irrespective of their weight status. Future studies using whole food samples are warranted to better characterize potential taste sensitivity and preference in children. Full article

We report a Japanese 5-year-old boy with primary ciliary dyskinesia (PCD) which was diagnosed owing to Clostridium difficile (CD) infection caused by prolonged antibiotic exposure. He had intractable otitis media with effusion (OME) and had abdominal pain and diarrhea for 4 months after starting antibiotics administration. His stool contained CD toxin. After vancomycin treatment, his symptoms improved and his stools did not contain CD toxin. His past medical history included frequent pneumonia. We, therefore, performed electron microscopy of the biopsy specimen from his nasal mucosa and genetic testing, and he was diagnosed with PCD. PCD is a rare inherited genetic disease causing ciliary dysfunction, which is very difficult to diagnose because some children without PCD also develop the same symptoms. Therefore, children who have intractable OME, rhinosinusitis, frequent pneumonia, or bronchitis and are taking antibiotics for long periods of time should be checked for underlying diseases, such as PCD. Full article

Neurodevelopmental disorders are seen quite commonly by general pediatricians. They should be managed with a multi-professional approach. The potential beneficial effect of poly-unsaturated fatty acids (PUFAs) has been reported in recent literature, but guidelines describing their use in everyday practice are still lacking. We describe four cases as examples of the possible integration of a supplementation with PUFAs in the management of four relatively common clinical situations (i.e., children too young to receive pharmacological treatment for ADHD, children with nonspecific neurodevelopmental disorders, children whose parents refuse consent for pharmacological treatment of ADHD, and children for whom methylphenidate is not sufficient to achieve expected results). Full article

Objectives: Munich Functional Developmental Diagnosis (MFDD) is a scale for assessing the psychomotor development of children in the first months or years of life. The tool is based on standardized tables of physical development and is used to detect developmental deficits. It consists of eight axes on which the following skills are assessed: crawling, sitting, walking, grasping, perception, speaking, speech understanding, social skills. Methods: The study included 110 children in the first year of life examined with the MFDD by the same physician. The score obtained on a given axis was coded as a negative value (defined in months) below the child’s age-specific developmental level. Next, we examined the dimensionality of the scale and the intercorrelation of its axes using polychoric correlation and principal component analysis. Results: Correlation matrix analysis showed high correlation of MFDD axes 1–4, and MFDD 6–8. The PCA identified three principal components consisting of children’s development in the areas of large and small motor skills (axis 1–4), perception (axis 5), active speech, passive speech and social skills (axis 6–8). The three dimensions obtained together account for 80.27% of the total variance. Conclusions: MFDD is a three-dimensional scale that includes motor development, perception, and social skills and speech. There is potential space for reduction in the number of variables in the scale. Full article

With the introduction of the Diagnostic and Statistical Manual of Mental Disorders-5th ed. (DSM-5) autism spectrum disorders (ASD) fall into the category of neurodevelopmental disorders. ASD is characterized by the inhibitory mechanisms responsible for social adaptation and emotional expression being underdeveloped, causing a child’s recognition and understanding of emotions to be impaired. Our study hypothesizes that early intervention using behavioral interventions such as Applied Behavior Analysis (ABA) and reflexive functions (RF) training on parents can improve the development of joint attention (JA), a cognitive precursor to the theory of mind (ToM) and mentalization processes. We considered a sample of 84 children aged between 20 and 30 months who had received a diagnosis of risk of autism spectrum disorder (level 1). The sample was divided into two groups of 42 subjects, in the first group we carried out a weekly behavioral parent training (PT) based only on ABA principles, while in the second group we carried out a weekly PT aimed at improving reflective functions and parental awareness according to a model inspired by the model based on emotional mirroring and mentalization of Fonagy. Our study shows that parents who are able to make sense of both their own mental state and that of their child can serve as a protective factor for the child’s development even in atypical developmental situations such as in ASD. Full article

Congenital goiter is an uncommon cause of neck swelling and it can be associated with hypothyroidism. We discuss a case of primary hypothyroidism with goiter presenting at birth. Ultrasound showed the enlargement of the gland and thyroid function tests detected marked hypothyroidism. Genetic analysis via next generation sequencing (NGS) was performed finding two mutations associated with thyroid dyshormonogenesis: c.7813 C > T, homozygous in the exon 45 of the thyroglobulin gene (TG) and c.1682 G > A heterozygous in exon 15 of the SLC26A4 gene (pendrin). Sanger sequencing of parents’ DNA samples revealed that the first mutation (c.7813 C > T) was inherited from both of them, while the second one (c.1682 G > A) was inherited from the mother. Hormone replacement therapy was started, following which a gradual decrease in the size of the goiter was seen with the normalization of hormonal levels. Normal infant growth status and neurological development were recorded during follow-up. Neonatal dyshormonogenetic goiter with hypothyroidism may represent an unusual cause of neonatal neck mass. Early identification and hormone replacement therapy are crucial for a better neurodevelopmental outcome. Genetic analysis is mandatory in order to reach a specific diagnosis and to elucidate new patterns of thyroid disorder. Full article

Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous disorder. It is characterized by the presence of nevus sebaceous, ocular anomalies, neurological deficits, and convulsion. Renal involvement was not commonly reported. We report a 10-year-old girl with LNSS who had concomitant cystic kidney disease and diffuse aortopathy with bilateral renal artery stenosis, leading to hypertension requiring oral anti-hypertensive medications. The girl presented with chorioretinal coloboma and multiple nevus sebaceous at birth. She had aortic coarctation and received surgical repair at one week of life. She had persistent hypertension during her follow-up. Further investigations were performed to look for causes of hypertension apart from possible re-coarctation. Her magnetic resonance angiogram revealed diffuse aortopathy, which extended from the aortic arch to the abdominal aorta. Branches of the aorta, including the celiac trunk, superior mesenteric arteries, and renal arteries, were also narrowed. Multiple renal cysts were also identified in her right kidney. Interventional angioplasty over the renal arteries was not feasible due to diffuse narrowing of the aorta, especially at the origins of renal arteries. The blood pressure was controlled with oral anti-hypertensive medications. Our case illustrated that pediatricians should be aware of the possible renal involvements in LNSS, which impose a significant impact on the management and long-term prognosis of these patients. Full article

Torticollis is a clinical diagnosis with heterogeneous causes. We present an unusual case of acquired torticollis in an 8-month-old female infant with a large cerebellopontine angle arachnoid cyst. Symptoms resolved after surgical fenestration. Non-traumatic acquired or new-onset torticollis requires brain imaging, and posterior fossa lesions are an important entity in the differential for pediatric clinicians. Full article

We present a case series of two patients with tracheo-oesophageal fistula with oesophageal atresia (TOF/OA), duodenal atresia (DA) and ano-rectal malformation (ARM). This constellation of abnormalities, dubbed triple atresia (TA), is a rare combination with few described cases in the literature. Here we describe our management of these cases, as well as the results of our literature review. Both of our cases had staged surgical procedures and were initially managed with thoracotomy for repair of TOF/OA on day two of life. They subsequently underwent laparotomy for management of their abdominal pathology at day five and seven of life. Both have survived the neonatal period and are awaiting definitive surgery for ARM. Literature review yielded seven cases of TA involving a TOF, DA, and ARM. Four patients underwent staged repair, while three patients underwent repair of TOF/OA, DA and colostomy for ARM at the same time. Of these three patients, two died, representing 22% of the overall cohort. Triple atresia remains a rare subset of patients suspected to have VACTERL association, however mortality may be significantly higher. Our data would suggest a staged approach to be optimal for long term survival. Full article

Coronavirus disease 19 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is associated with various clinical manifestations, including skin lesions. In particular, during the COVID-19 pandemic lock-down period numerous chilblain-like lesions, mainly located on the feet, were observed in adolescents. The latter were often asymptomatic or associated with very mild respiratory symptoms. Here, we report three cases of acral nodular lesions in SARS-CoV-2 swab-negative adolescents with histological findings of chronic immune-mediated inflammation and immunohistochemical evidence of SARS-CoV-2 spike glycoproteins in endothelial cells and eccrine sweat glands. In one of these cases, the virus presence was confirmed by electron microscopy. Full article

The term exstrophy-epispadias complex refers to a group of midline defects ranging from epispadias to cloacal exstrophy. Bladder exstrophy is the most frequent malformation of this spectrum and it can present as a classical or a variant form. We report a case of a hybrid bladder exstrophy variant having some characteristics of both a duplicate bladder exstrophy and a superior vesical fistula. Full article

The COVID-19 pandemic is affecting healthcare services worldwide. We investigated the impact of a strict lockdown policy on the characteristics of neonatal and pediatric attendances to our pediatric emergency department (PED). The clinical features of PED visits in March–April 2020 (COVID-19) and March–April 2019 (non-COVID-19) were analyzed. During the COVID-19 lockdown period, visits reduced by 67%, from 3159 to 1039. Neonatal access decreased from 78 to 59, mainly due to fewer pathological conditions, with a complete disappearance of respiratory infections. On the other hand, minor neonatal clinical conditions rose from 44 (56.4%) to 48 (81.4%), mostly due to feeding-related issues. Communicable diseases, particularly respiratory infections and gastroenteritis, dropped from 1552 (49.1%) to 288 (27.7%). Accident-related visits also decreased during COVID-19, from 535 (16.9%) to 309 (29.7%), becoming the most common cause of PED access. Hospital admissions reduced from 266 to 109, while PICU (pediatric intensive care unit) admissions decreased from 27 to 11, with a comparable rate of 10.1% in both periods. The lockdown due to COVID-19 had a substantial impact on our PED visits, which markedly decreased, mainly due to fewer respiratory infections. Unexpectedly, neonatal visits for minor conditions did not decline, but rather slightly increased. Among the children admitted to the PICU, none had respiratory disease. Full article

Herpes zoster is a relatively rare infectious disease in the pediatric population, as compared with adults, which is due to the reactivation of latent Varicella−Zoster virus. We report a 7-year-old child without any history of varicella, who first experienced skin pain and later presented skin lesions in dermatomal distribution. Finally, the patient was diagnosed with herpes zoster. We aim to emphasize that herpes zoster could occur in immunocompetent children and may be due to the reactivation of the vaccine strain or previous subclinical infection. Full article