Pediatr. Rep., Volume 13, Issue 4 (December 2021) – 14 articles

Childhood absence epilepsy (CAE) is a common pediatric generalized epileptic syndrome. Although it is traditionally considered as a benign self-limited condition, the apparent benign nature of this syndrome has been revaluated in recent years. This is mainly due to the increasing evidence that children with CAE can present invalidating neuropsychological comorbidities that will affect them up to adulthood. Moreover, a percentage of affected children can develop drug-resistant forms of CAE. The purpose of this review is to summarize the most recent studies and new concepts concerning CAE treatment, in particular concerning drug-resistant forms of CAE. A Pubmed search was undertaken to identify all articles concerning management and treatment of CAE, including articles written between 1979 and 2021. Traditional anticonvulsant therapy of CAE that is still in use is based on three antiepileptic drugs: ethosuximide which is the drug of choice, followed by valproic acid and lamotrigine. In the case of first line treatment failure, after two monotherapies it is usual to start a bi-therapy. In the case of absence seizures that are refractory to traditional treatment, other antiepileptic drugs may be introduced such as levetiracetam, topiramate and zonisamide. Full article

Background: Nonsyndromic cleft lip with or without palate (NSCL/P) is a multifactorial and common birth malformation caused by genetic and environmental factors, as well as by teratogens. Genome-wide association studies found genetic variations with modulatory effects of NSCL/P formation in Chinese and Iranian populations. We aimed to identify the susceptibility of single-nucleotide polymorphisms (SNPs) to nonsyndromic cleft lip with or without palate in the Indian population. Material and Methods: The present study was conducted on NSCL/P cases and controls. Genomic DNA was extracted from peripheral blood and Axiom- Precision Medicine Research Array (PMRA) was performed. The Axiom-PMRA covers 902,527 markers and several thousand novel risk variants. Quality control-passed samples were included for candidate genetic variation identification, gene functional enrichment, and pathway and network analysis. Results: The genome-wide association study identified fourteen novel candidate gene SNPs that showed the most significant association with the risk of NSCL/P, and eight were predicted to have regulatory sequences. Conclusion: The GWAS study showed novel candidate genetic variations in NSCL/P formations. These findings contribute to the understanding of genetic predisposition to nonsyndromic cleft lip with or without palate. Full article

Recent studies have highlighted the positive impact of high sn-2 formulas on gastrointestinal (GI) tolerance. We assessed the GI tolerance, acceptability, and safety of high sn-2 infant formula among non-breastfed healthy term infants in the Gulf countries. A multicenter observational study was conducted on 227 healthy-term infants who were prescribed high sn-2 palmitate infant formula and received a minimum of two formula feedings per day for the past two weeks prior to the study’s initiation. The number of stools per day decreased significantly from a median of four (interquartile range [IQR] = 4) at baseline to 3.0 (2) stools per day at the end of follow-up (p = 0.015). The percentage of stool amount changed significantly, where 61.2% and 33.7% of the infants had an amount of 25–50% of the diaper and >50% of the diaper, respectively (p < 0.001) at the end of the follow-up. Similarly, the percentage of hard stool decreased significantly from 17.4% at baseline to 0.4% of the population at week 12 (p < 0.00). The prevalence of colic and abdominal distention declined from 21.4% and 39.9% at baseline to 2.9% and 9.4% at week 12, respectively (p < 0.05). The same decline was observed in abdominal distension and regurgitation score (p < 0.05). Full article

Background. Gitelman syndrome (GS) is an inherited salt-losing renal tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. Patients can be asymptomatic until late adolescence or adulthood, and hence may be discovered incidentally during presentation with other illnesses. GS has been described in association with thyroid disorders and should be considered in patients with hyperthyroidism and persistent hypokalemia, especially in those with associated hypomagnesemia and hypocalciuria. Case summary. In this report, we describe an 18-year-old female who presented with hyperemesis gravidarum and thyrotoxicosis, and was incidentally found to have GS, confirmed by the sequence analysis of SLC12A3. Conclusions. Thyroid dysfunctions, such as hypothyroidism, thyrotoxicosis, and thyroid nodules, may develop during pregnancy. A structural homology between the beta-human chorionic gonadotropin and thyroid stimulating hormone molecules, as well as their receptors is probably the basis for the transient thyrotoxicosis crisis during pregnancy. Since hyperemesis in pregnancy can also lead to hypokalemia and alkalosis, a high index of suspicion for GS during pregnancy is required for timely diagnosis and management. Full article

Congenital junctional ectopic tachycardia (CJET) is a rare tachyarrhythmia that remains difficult to manage, with suboptimal control in most cases. Here, we report literature research on the use of ivabradine in the treatment of pediatric junctional ectopic tachycardia (JET), both congenital and postoperative, and describe the successful use of ivabradine–flecainide association for CJET therapy resistant to other antiarrhythmic agents. This new drug combination was effective in completely suppressing JET. Ivabradine–flecainide combination may be considered a new therapeutic strategy of CJET with a satisfactory efficacy/tolerability ratio in patients resistant to conventional drug combinations. Full article

Despite significant prevention efforts, childhood poison exposures remain a serious public health challenge in the United States. This study aimed to assess annual trends of pharmaceutical vs. non-pharmaceutical poison exposures in the US among children 0–19 years and compare the odds of death by children’s age group. Poison exposure and fatality data were retrospectively extracted from 2009 to 2019 National Poison Data System (NPDS) annual reports for children in all reported age groups. Overall, there was a significant reduction in the annual population-adjusted poison exposures in children (annual percentage change = −2.54%, 95% CI = −3.94% to −1.15%, p < 0.01), but not in poisoning-related fatalities. Children 0–5 had similar odds of dying from exposure to non-pharmaceuticals vs. pharmaceuticals. The odds of children 6–12 dying from non-pharmaceuticals vs. pharmaceuticals was 2.38 (95% CI = 1.58, 3.58), χ² = 18.53, p < 0.001. In contrast, the odds of children 13–19 dying from pharmaceuticals vs. non-pharmaceuticals was 3.04 (95% CI = 2.51, 3.69), χ² = 141.16, p < 0.001. Suicidal intent accounted for 40.63% of pharmaceutical deaths in children 6–12, as well as 48.66% of pharmaceutical and 31.15% of non-pharmaceutical deaths in children 13–19. While a significant decline in overall childhood poison exposures was reported, a decrease in poisoning-related fatalities was not observed. Children in different age groups had contrasting relative odds of death from pharmaceutical and non-pharmaceutical exposures. Among older children, a greater proportion of poisoning-related deaths was due to intentional suicide. These findings provide evidence of age-specific trends in childhood poison exposure risk and directions for future poison prevention efforts and behavioral health partnerships. Full article

Background: Childhood health problems affect healthy growth. This study aimed to assess the symptoms and diseases requiring hospital visits commonly found in children in Japan and analyze their effects on health status. Methods: Anonymized data on 1315 children aged 6–14 years were obtained from a national survey questionnaire. The survey items addressed symptoms, disease names, and hospital visits. Associations between symptoms and other factors were examined by means of a contingency table analysis and logistic regression. Results: The proportions of responses for health status were compared for each question item; significant differences were found in age group (p < 0.01), subjective symptoms (p < 0.01), hospital visits (p < 0.01), and lifestyle (p < 0.01). The proportion of responses indicating “poor” perceived health status was high among those with subjective symptoms (4.8%) and hospital visits (4.7%). From the logistic regression, significant odds ratios were found for subjective symptoms (2.10, 95% confidence interval (C.I.) 1.15–3.83) and age group (1.98, 95% C.I. 1.05–3.72). Conclusion: Among measures to improve quality of life from childhood, comprehensive health guidance that emphasizes understanding symptoms and includes age and living conditions is important. Full article

Autism Spectrum Disorders (ASD) are associated with co-morbidities such as gastrointestinal (GI) symptomatology, which in the absence of known causes are potential indicators of gut microbiota that may influence behavior. This study’s purpose was to explore relationships among clinical GI indicators—diet, abdominal pain, and stool status—and ASD symptom severity, specifically social and sensory symptoms. Participants were 33 children with ASD, 3 to 16 years. The Social Responsiveness Scale (SRS-2) and the Child Sensory Profile Scale (CSP-2) were used to appraise social and sensory symptomatology. Significant difference was found in overall SRS-2, t(31) = −3.220, p = 0.003 when compared by abdominal pain status using independent samples t-tests. Significant difference was observed for overall CSP-2, t(31) = −2.441, p = 0.021, when grouped by stool. The three clinical GI variables predicted overall SRS-2 score using multiple linear regression, F(3, 32) = 3.257, p = 0.036; coefficient for abdominal pain significantly contributed to the outcome. Findings contribute to the growing literature signaling the need to understand occurrence of GI symptomatology more deeply, and in consideration of diet status and its implications in the children’s everyday lives, behaviors, and symptom severity. Full article

Celiac disease (CD) has been associated with several genetic and autoimmune disorders, but its association with hereditary fructose intolerance (HFI) is very rare. The possibility of an association between CD and HFI should be considered, especially in patients with a lack of improvement after a gluten-free diet. Children with HFI often present with a wide range of symptoms, however, data about a strong aversion to fruits and sweets may be helpful to establish the diagnosis. The diagnosis of HFI should be confirmed in genetic testing. Both CD and HFI may present with liver steatosis with hypertransaminasemia. In patients with these two disorders, the dietary restrictions of gluten and fructose improve clinical symptoms and protect them from secondary complications. We report the case of a child with the concurrence of these two disorders. Full article

Vitamin B12 (Vit-B12) deficiency is a rare and treatable cause of failure to thrive and delayed development in infants who are exclusively breastfed. Apart from genetic causes, it can be related to a malabsorption syndrome or when the mother follows a strict vegetarian or vegan diet, causing a low hepatic storage of Vit-B12 in the infant at birth. As the neurological symptoms are nonspecific, a brain magnetic resonance imaging (MRI) exam is usually performed to rule out primary causes of neurodevelopmental delay. Findings related to brain atrophy are usually observed. A favorable response is achieved with Vit-B12 therapy, and neurological symptoms dramatically improve within a few days after the treatment. We present the case of an infant with severe Vit-B12 deficiency, exclusively breastfed by his young vegan mother, and whose clinical symptoms together with MRI findings improved after treatment. Brain atrophy recovery after Vit-B12 therapy has been seldom documented. Full article

Primary headache is an increasing phenomenon in pediatric age, and very often, it causes disabling limitations in children’s daily activities, negatively affecting family well-being. There are conflicting data in the literature on the impact of children’s migraines on parental experienced stress. This study aimed to evaluate maternal stress in a sample of school-aged children with a migraine without aura (MwoA) and its correlation with migraine intensity and frequency. A total of 474 mothers aged between 31 and 55 participated in the study: 237 were mothers of children with MwoA, and 237 were mothers of typical developing children. All participants were administered the Parent Stress Index-Short Form (PSI-SF) for the assessment of parental stress; the Pediatric Migraine Disability Assessment (PedMIDAS) was administered to children with MwoA to assess the presence of a related disability migraine. The results showed a significantly higher rate of stress in mothers of MwoA children (p < 0.001) in all the domains explored by the PSI-SF and a statistically significant correlation between the maternal stress total score and the intensity and frequency of migraine attacks (p < 0.0001). This study highlights the need for the holistic contribution of the family to be considered in the clinical management of pediatric migraines. Full article

Introduction: in the review, we aimed to present current knowledge about the risk of infection, standards of care, and postexposure prophylaxis (PEP) in pediatric patients after non-vertical exposures to HIV, HBV, and HCV infection. Materials and Methods: the latest available literature and recommendations of Centers for Disease Control and Prevention (CDC), World Health Organization (WHO), European recommendations for the management of HIV and administration of non-occupational PEP, and Polish AIDS Society were reviewed. Results: the majority of cases of non-vertical exposure to blood-borne viruses in the pediatric population consist of sexual exposition and injection with unsterilized sharp objects (usually needlestick injuries). The risk HIV, HBV, and HCV transmission depend on several factors, and each exposure should be evaluated individually with consideration of the patient’s medical history. It is crucial to start antiretroviral therapy within 48 h from exposure. Treatment is continued for 28 days, and a 3-drugs regiment is recommended in the majority of cases. Decisions on hepatitis B and tetanus PEP are based on a history of vaccination. There is no PEP for hepatitis C infection, follow-up testing aims for early identification of disease and consideration of treatment options. Conclusion: all children after the non-vertical exposure to HIV, HBV, and HCV infection should be evaluated by the Infectious Disease specialist as soon as possible after the incident and qualified to post-exposure prophylaxis. Systematic diagnostic and follow-up on children after significant needlestick exposure should be maintained. Children after sexual exposure need a multidisciplinary approach. Response to reported event must be rapid and treatment must be comprehensive. Full article

Background. Two of the most challenging behaviors exhibited by individuals on the autism spectrum are self-injurious behavior (SIB) and aggression. The aim of this study was to identify co-occurring symptoms, behaviors, and medical comorbidities that may provide insight into understanding and treating these behaviors. Method. A large-scale online survey was used to collect data on symptoms, behaviors, and medically related comorbidities commonly reported in individuals with autism spectrum disorders (ASD). Based on responses from 2327 participants, individuals with ASD were divided into four categories: individuals who engaged in SIB only, individuals who engaged in aggression only, individuals who engaged in both behaviors, and individuals who engaged in neither behavior. Results. There were several characteristics and comorbidities associated with those who engaged in SIB only and in aggression only, in addition to those who engaged in both behaviors. Conclusion. The findings in this study provide evidence to support at least two underlying causes of these behaviors (insensitivity to pain and reactions to food) as well as implications for treating them. Furthermore, several behaviors often observed during early childhood may be considered early predictors of these challenging behaviors. Full article

The novel coronavirus disease (COVID-19) was detected for the first time in China in December 2019. Soon after it was declared a pandemic. Main symptoms include fever, dyspnea, cough, muscle pain, headache, anosmia and ageusia, however a growing body of evidence shows that other organs can be affected. Gastrointestinal manifestations have been observed in a considerable number of patients and include abdominal pain, diarrhea and vomiting. The involvement of liver as well as pancreas has been also described, however there are only a few cases of acute pancreatitis reported in patients with COVID-19. Therefore, we present a case of 6-year-old child with mild acute pancreatitis and COVID-19 pneumonia. Full article