Pediatric Reports

The epidemic spread of childhood obesity in Western society has interested many researchers, who agree in defining it as a multifactorial disease in which not only eating habits and sedentary lifestyle play a role, but also genetic predisposition. The aim of this study was to analyze the personality profile of a group of mothers of children with obesity and to compare this profile to that of a group of mothers of children without obesity. A total of 258 mothers participated in the study (126 mothers of children with obesity and 132 mothers of children without obesity). Weight and height were measured and the body mass index was calculated. The Minnesota Multiphasic Personality Inventory second edition (MMPI-2), evaluating personality and psychological disorders, was used to evaluate the personality profile. The results suggested that mothers of children with obesity score higher than the mothers of children without obesity in all MMPI-2 subscales. In most of these subscales, the differences between the two groups of mothers were statistically significant and with a medium to high effect size. These data suggest a new perspective on childhood obesity, identifying it as a multifactorial pathology that requires a multimodal and multidisciplinary approach that also takes care of caregivers to ensure optimal therapeutic efficacy. Full article

In this case report, we present a 16-year-old Ukrainian boy with acute hepatitis B. He had not been previously vaccinated against hepatitis B. Possible sources of infection included: a tattoo made at home, a finger cut made with hairdresser scissors during work, and unprotected sexual encounters. The clinical course of the disease was typical with jaundice and elevated aminotransferases levels without liver failure. During the follow-up visit 16 months after the onset of the disease, chronic hepatitis b was excluded but an ulcer around his anus was found. Additional tests for sexually transmitted diseases were ordered and they were positive for syphilis. The extended interview revealed that the patient had several unprotected bisexual encounters, which may have indicated a potential source of infections including the hepatitis B virus (HBV). The reported case shows that despite the significant decrease in the hepatitis B prevalence in Poland, the infection is still possible. It is necessary to conduct epidemiological interviews regarding sexually transmitted diseases in teenagers, especially when a blood-borne disease has been diagnosed. Full article

The alarming onset of some cases of myocarditis and pericarditis following the administration of Pfizer–BioNTech and Moderna COVID-19 mRNA-based vaccines in adolescent males has recently been highlighted. All occurred after the second dose of the vaccine. Fortunately, none of patients were critically ill and each was discharged home. Owing to the possible link between these cases and vaccine administration, the US and European health regulators decided to continue to investigate the potential causal relationship between COVID-19 mRNA vaccines and myocarditis. In any case, none of the patients fulfilled the criteria for multi-system inflammatory syndrome or Kawasaki-like disease and there was no evidence of acute SARS-CoV-2 infection. Full article

Data in the literature report that latency and morphology in the cutaneous sympathetic skin response (SSR) do not change according to the type of stimulus delivered, unlike the amplitude which shows greater values in relation to the intensity of the physical impact caused in patient. Since the acoustic stimulus represents a method better tolerated by the pediatric patient, the aim of this study is to evaluate the presence or absence of significant differences in SSR between electrical and acoustic stimuli. The SSR was performed for each child of 18 recruited in this study, deriving from the palm of the hand and the sole of the foot and initially delivering an electrical stimulus at the level of the median nerve at the wrist. Two acoustic stimuli were subsequently delivered with the aid of audiometric headphones. Our results show no significant differences for the amplitude values obtained (p values > 0.05). For the latency there was a statistically significant difference (p-value = 0.001) for the left hand, subsequently not confirmed by the comparison performed between the two sides (p-values = 0.28 and 0.56). If these preliminary data are confirmed by a larger sample, the acoustic stimulus could be introduced in a standardized protocol for performing SSR in pediatric patients. Full article

Every year, there are over 3300 ingestions of button batteries, mostly by young children. Initial presentation of button battery ingestion may be nonspecific, with a delay in diagnosis and removal resulting in increased risk of complications. We present the case of a five-year-old female who presented with vomiting following unwitnessed button battery ingestion. The battery was impacted in the middle esophagus for at least six hours. Endoscopy was performed for immediate removal and showed a Grade 2B erosion, warranting nasogastric tube placement. The patient remained asymptomatic following discharge and had a barium swallow that was read as normal. However, a repeat endoscopy one month later visualized stricture formation at the previous battery injury site. This case highlights the importance of both clinician and parent awareness of button battery ingestion and demonstrates that endoscopy provides the most accurate assessment of esophageal injury and complication development, even in asymptomatic patients. Full article

This report presents the first case of Brugada pattern complicated by a supraventricular arrhythmia in a child with SARS-CoV-2 related Multisystem Inflammatory Syndrome in Children (MIS-C). A 7-year-old boy came to our Emergency Department with 7 days of abdominal pain and fever. MIS-C was diagnosed on the basis of the clinical, laboratory and instrumental tests. On admission, ECG showed type 1 Brugada pattern in the right precordial leads. During hospitalization the onset of supraventricular arrhythmias complicated the clinical picture. This case underlines management complexity of supraventricular arrhythmic events, different from atrial fibrillation, in patients with Brugada pattern in the context of a systemic inflammatory condition with significant cardiac involvement. All potential therapeutic choices should be considered to ensure the best outcomes. Full article

Background: There are non-invasive methods of correcting genu valgum (GV), but to date, there is no method to evaluate mechanotherapeutic intervention that does not restrict child’s natural movements while the process is on-going so that timely decisions could be made on effectiveness of intervention. The aim of study was to develop and assess the comfortability of garments with elastic straps and pressure applicator (GESPA) and the reliability and user-friendliness of “GVcorrect” app, which aims to catch the elastic straps’ pressure level (mN). Methods: 6 children (5–7 y) with intermalleolar distance ≥5 cm wore GESPA daily for 3 months. Anthropometrical and goniometrical measurements were done according to standard technique; tone and biomechanical parameters of skeletal muscles determined with MyotonPRO; feedback about GESPA and “GVcorrect” collected via questionnaire. Results: Based on feedback from children and parents, new, more comfortable and user-friendly GESPA were designed; several updates were made to “GVcorrect” app; new goals were set for the next phase of the study. Conclusions: GESPA and the “GVcorrect” app serve their purpose, but there are still a number of important limitations that need to be removed before the product can be marketed. The study continues with product development until a medical device certificate is obtained. Full article

Background: Perineal groove is a very rare congenital malformation that usually occurs in females. It has been described as a wet, un-epithelialized mucus tissue extending from the posterior vaginal fourchette to the anterior anal opening. It is generally asymptomatic and self-limited. Due to its rarity, it is often unfamiliar to clinicians, often leading to a missed diagnosis or unnecessary interventions. Methods: During the period from September 2017 to September 2020, four patients (two newborns and 2 infants) were diagnosed with perineal grooves. They were referred to the pediatric surgery clinic because of abnormal findings during their genital examinations. During the same period of time, the clinic received 12 other new patients with various forms of anorectal malformations. Results: All four patients were girls. During examinations by their respective pediatricians, an abnormality in the perineum was noted in each of the patients. The depth of the grooves varied between the four patients and extended from the anus to the vaginal fourchette. None of the patients experienced any other symptoms related to the malformation. All the cases were referred to the pediatric surgeon by their pediatricians as a diagnosed anal fissure or abnormal finding in the genitalia. In all four patients, the mothers did not take folic acid during the pregnancy. The four patients were observed, and no surgery was needed; in three of the cases, there was a complete spontaneous resolution while the fourth patient still remains under observation. Conclusions: Perineal groove is a rare malformation with a low incidence rate. It is more common in female infants and usually self resolves before the age of 2 years. The condition is diagnosed on clinical examination; however, it is easily misdiagnosed and may lead to unnecessary interventions and surgery. Full article

Common variable immunodeficiency (CVID) is a primary immune deficit (PID) mainly characterized by hypogammaglobulinemia. In addition to increased susceptibility to infections and several immune-mediated manifestations, patients with CVID frequently develop bronchiectasis because of recurrent respiratory infections. This occurrence could be more likely if the diagnosis of CVID is delayed, as it often happens in less resourced clinical settings. A 15-year-old female patient was admitted to a tertiary hospital in Kazakhstan for consultation regarding a previous and established diagnosis of bronchiectasis. The clinical history was characterized by recurrent respiratory infections for several years, in addition to the development of a mixed restrictive-obstructive respiratory syndrome. Therefore, she underwent chest computerized tomography, which confirmed the presence of multiple and bilateral bronchiectasis. The clinical discussion on this patient highlighted that serum immunoglobulins were never measured previously and, thus, their assessment was strongly recommended. Based on that, a diagnosis of CVID was finally achieved, and the patient started the appropriate immunoglobulin replacement therapy. To our knowledge, this report is the first English-language publication on CVID and bronchiectasis from Central Asia. Bronchiectasis is currently an important medical problem in developing countries and populations with low socioeconomic status, where the diagnosis of the underlying cystic fibrosis and non-cystic fibrosis comorbidities can be delayed and more difficult than in countries with more accessible health care systems and facilities. This case report emphasized this important clinical issue in Central Asia and should raise the medical attention and awareness of this health problem, in order to improve the diagnostic timing and rate. Full article

Calculous cholecystitis connects to inflammation and various complications. It is a common disease in the paediatric population, yet it is still uncertain how inflammation factors are involved in its morphopathogenesis. Twenty calculous cholecystitis surgery tissue samples were obtained from 20 children. As a control, seven unaffected gallbladders were used. Tissues were immunohistochemically stained for IL-1α, IL-4, IL-6, IL-7, IL-8, IL-10, and IL-17A, and the slides were inspected by light microscopy. To evaluate statistical differences and correlations between interleukins, Mann–Whitney U and Spearman’s tests were used. Statistically significant difference between patient and control gallbladder epithelium was for IL-1α and IL-17A, but connective tissue—IL-1α, IL-4, IL-6, IL-7, IL-8, and IL-17A positive structures. A strong positive correlation in patients was detected between epithelial IL-1α and IL-1α in connective tissue, epithelial IL-6 and IL-7, IL-6 and IL-17A, IL-7 and IL-10, IL-7 and IL-17A, as well as between IL-6 and IL-7, IL-7 and IL-10 in connective tissue. The increase of IL-1α, IL-4, IL-6, IL-7, IL-8 and IL-17A positive structures suggests their role in the morphopathogenesis of calculous cholecystitis. The correlations between interleukins in epithelium and in connective tissues prove that the epithelial barrier function and inflammatory response in deeper layers are sustained through intercellular signalling pathways. Full article

Background: Anemia is common in patients with nephrotic syndrome (NS) for various reasons. Furthermore, anemia can occur in patients with chronic kidney disease (CKD) predominantly owing to inappropriately low erythropoietin (EPO) production relative to the degree of anemia. However, erythrocytosis is uncommon in patients with NS and advanced CKD who are not treated with exogenous erythropoietin stimulating agents, and when present, will necessitate exploration of the other etiologies. Case summary: Here, we describe an 8-year-old girl with erythrocytosis in association with NS and advanced CKD. The patient was found to have erythrocytosis during the evaluation for hypertensive urgency. She also had nephrotic range proteinuria without edema. Serum hemoglobin and hematocrit were 17 gm/dL and 51%, respectively, despite hydration. Renal function test showed an estimated glomerular filtration rate of 30 mL/min/1.73 m². There was mild iron deficiency anemia with serum iron saturation of 18%. Serum EPO level was normal. Urine EPO was not measured. Renal biopsy showed evidence of focal segmental glomerulosclerosis. Genetic testing for NS showed mutations in podocyte genes: NUP93, INF2, KANK1, and ACTN4. Gene sequence analysis of genes associated with erythrocytosis showed no variants in any of these genes. She required chronic dialysis ten months later and, subsequently, a renal transplantation 14 months after the initial presentation. Conclusion: Since the serum EPO level was normal, an increased sensitivity to EPO is the most probable mechanism of erythrocytosis. The unusual association of erythrocytosis in patients with NS and advanced CKD needs to be studied further in larger studies. Full article

Background: Attention deficit hyperactivity disorder is the most common childhood psychiatric disorder. Current treatment strategies do not provide a convincing improvement on overall functioning, and further, reciprocity between ADHD and attachment has been suggested. This suggests that we do not fully comprehend the mechanisms of the disorder. This study was part of a larger project investigating factors of potential importance when a child is diagnosed with ADHD. Aim: In this current study we aimed to gain a clearer understanding about whether the mothers experienced the diagnostic process and treatment as helpful. Method: Sixty children newly diagnosed with ADHD and their mothers were included three years prior to this study. Fifty-two (87%) completed a survey about their experience with the diagnostic process and the years after in the psychiatric system and the secondary healthcare sector. Forty-three had also participated in an attachment interview in the original study and answered questions about this. Discussion: The follow-up questionnaire was based on conversations with the mothers was not meant to be used as a quantitative measure. However, one point to take is that the mothers did often not feel the help offered to be sufficient. In our opinion, this underlines that we are still far from understanding what ADHD is and what causes the differences in developmental trajectories as well as how differences in etiological factors may call for more customized approaches in treatment strategies. Full article

We present a case of a transient acquired zinc deficiency in a breast-fed, 4-month-old-male prematurely born infant, with acrodermatitis enteropathica-like symptoms such as crusted, eroded, erythemato-squamous eruption in periorificial and acral patterns. The laboratory investigations showed low zinc levels in the infant’s and the mother’s serum and in the mother’s milk; genetic analysis did not show any mutation in the SLC39A4 gene, involved in acrodermatitis enteropathica. Acquired zinc deficiency is often found in premature infants because of their increased requirement, the low serum and milk zinc levels in breastfeeding women being also an important risk factor, as in this case. A prompt zinc supplementation is essential for the good prognosis of the disease. Full article

Objective: Attention deficit hyperactivity disorder (ADHD) is a common psychiatric disorder diagnosed in increasing proportions of children and adolescents. The psychostimulant methylphenidate has been considered the first-line pharmacological treatment for children and adolescents with ADHD for more than 60 years. Considering recent publications on methylphenidate for ADHD, we here give an overview of its effects in children and adolescents with ADHD, elicited by a well-disputed Cochrane review and narratively synthesise the evidence in the field. Method: We searched for systematic reviews and meta-analyses that investigated methylphenidate as an intervention for children and adolescence with ADHD compared with placebo or no treatment. We assessed the quality of the evidence using AMSTAR II. Results: We found 24 eligible systematic reviews and meta-analyses of which 11 were rated as high- quality evidence according to AMSTAR II. The evidence claiming that methylphenidate is beneficial in treating children and adolescents with ADHD was of very low certainty. The underreporting of adverse events in randomised clinical trials may impede an adequate depiction of the balance between benefits and harms. Conclusions: It appears that there is uncertain evidence on group-level to support the claim that methylphenidate is beneficial in treating children and adolescents with ADHD. Future randomised clinical trials and systematic reviews should include individual participant data, which would allow us to assess intervention effects across modifiers, like age, sex, ADHD subtypes, comorbidities, and dose. Full article

Background: To describe trends and clinical experiences in applying commercial pharmacogenetic testing among pediatric patients with neuropsychiatric disorders. Methods: Demographic and clinical data of patients receiving GeneSight^® testing from January 2015 to November 2016 at an urban pediatric hospital were retrospectively extracted from medical charts. Outcome data included pharmacogenetic test results and medication prescriptions before and after the test. Results: A total of 450 patients (12.1 ± 4.3 years) diagnosed with anxiety disorder, attention deficit hyperactivity disorder, developmental disorders including autism, and/or a mood disorder received testing, and 435 of them were prescribed medications. Comparing data before and after testing, the total number of psychotropic prescriptions were reduced by 27.2% and the number of prescribed medications with severe gene-drug interactions decreased from 165 to 95 (11.4% to 8.9% of total medications prescribed). Approximately 40% of actionable genetic annotation were related to CYP2CD6 and CYP2C19. Patients of Asian descent had significantly higher likelihood than other races of being classified as poor to intermediate metabolizers of antidepressants, mood stabilizers, and antipsychotics (p = 0.008, 0.007, and 0.001, respectively). Diagnoses, including autism spectrum disorder, were not associated with increased risks of severe gene-drug interactions. Conclusions: Pharmacogenetic testing in child and adolescent psychiatry is currently based on few clinically actionable genes validated by CPIC and/or FDA. Although this approach can be moderately utilized to guide psychotropic medication prescribing for pediatric patients with psychiatric disorders, clinicians should cautiously interpret test results while still relying on clinical experience and judgment to direct the final selection of medication. Full article

Immunoglobulin A (IgA) vasculitis is the most common systemic vasculitis in the pediatric population. We present the case of a patient with IgA vasculitis with nephritis who developed cytomegalovirus (CMV) infection followed by Mycobacterium tuberculosis infection. In the literature, there are a few cases of IgA nephropathy accompanied by reactivation of CMV or tuberculosis. To the best of our knowledge, this is the first reported case of IgA vasculitis complicated by both CMV reactivation and tuberculosis. It is important to detect infections in patients with IgA vasculitis because they can induce and exacerbate the symptoms of the disease. Effective antimicrobial treatment facilitates the management of proteinuria and slows down the decline of renal function. Immunosuppressive therapy is a risk factor for reactivation of latent infections and makes patients more susceptible to its generalized and complicated course. This can be prevented by actively screening for hidden sites of infection. Full article

A growing number of children and adolescents play video games (VGs) for long amounts of time. The current outbreak of the Coronavirus pandemic has significantly reduced outdoor activities and direct interpersonal relationships. Therefore, a higher use of VGs can become the response to stress and fear of illness. VGs and their practical, academic, vocational and educational implications have become an issue of increasing interest for scholars, parents, teachers, pediatricians and youth public policy makers. The current systematic review aims to identify, in recent literature, the most relevant problems of the complex issue of playing VGs in children and adolescents in order to provide suggestions for the correct management of VG practice. The method used searches through standardized search operators using keywords related to video games and the link with cognition, cognitive control and behaviors adopted during the pandemic. Ninety-nine studies were reviewed and included, whereas twelve studies were excluded because they were educationally irrelevant. Any debate on the effectiveness of VGs cannot refer to a dichotomous approach, according to which VGs are rigidly ‘good’ or ‘bad’. VGs should be approached in terms of complexity and differentiated by multiple dimensions interacting with each other. Full article

Cancer children experience long periods of hospitalization, which are associated with limited performance in several developmental domains and participation restrictions in age appropriate occupations. Fine motor abilities represent building blocks in performing daily life skills and have been found to be closely connected with later academic success. Moreover, medical and psychological sequelae for cancer inpatients may result in diminished daily activities functioning, poor perceived health related quality of life (HRQOL), and increase the likelihood of long-term impairments. This study examines the variations in the occupational performance of children hospitalized for acute lymphoblastic leukemia (ALL) after their participation to a stimulation program designed to enhance fine motor skills. Parents reported significant gains in children’s motor functioning, a slight improvement in overall occupational performance related to an increase in the area of productivity and self-care, and a better quality of life perception following the stimulation activities. Feasibility of the stimulation program in a health care setting are discussed evaluating its benefits for cancer children and their families. Full article

COVID-19 (Coronavirus Disease 2019) is an emerging viral disease caused by the coronavirus SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2), which leads to severe respiratory infections in humans. The first reports came in December 2019 from the city of Wuhan in the province of Hubei in China. It was immediately clear that children developed a milder disease than adults. The reasons for the milder course of the disease were attributed to several factors: innate immunity, difference in ACE2 (angiotensin-converting enzyme II) receptor expression, and previous infections with other common coronaviruses (CovH). This literature review aims to summarize aspects of innate immunity by focusing on the role of ACE2 expression and viral infections in children in modulating the antibody response to SARS-CoV-2 infection. This review was conducted using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Articles deemed potentially eligible were considered, including those dealing with COVID-19 in children and providing more up-to-date and significant data in terms of epidemiology, prognosis, course, and symptoms, focusing on the etiopathogenesis of SARS-CoV-2 disease in children. The bibliographic search was conducted using the search engines PubMed and Scopus. The following search terms were entered in PubMed and Scopus: COVID-19 AND ACE2 AND Children; COVID-19 AND Immunity innate AND children. The search identified 857 records, and 18 studies were applicable based on inclusion and exclusion criteria that addressed the issues of COVID-19 concerning the role of ACE2 expression in children. The scientific literature agrees that children develop milder COVID-19 disease than adults. Milder symptomatology could be attributed to innate immunity or previous CovH virus infections, while it is not yet fully understood how the differential expression of ACE2 in children could contribute to milder disease. Full article