Current Pediatric Reviews - Volume 16, Issue 3, 2020

Background: Children with medical complexity (CMC) and their parents are affected physically and mentally during transitions in care. Coordinated models of care show promise in improving health outcomes. Objective: The purpose of this scoping review was to examine research related to CMC and their parents and transitions in care. The aim was 3-fold: (1) to examine the extent, range, and nature of research activity related to the impact of transitions on physical and mental health for CMC and their parents; (2) to summarize and disseminate research findings for key knowledge users; and (3) to identify research gaps in the existing literature to inform future studies. Methods: Twenty-three sources were identified through database searches and five articles met the inclusion criteria of CMC (multi-organ involvement or technology-dependent) (or parents of CMC) transitioning from hospital to alternate levels of care where outcome measures were physical or mental health-related. Results: Numerical analysis revealed substantial variation in methodological approaches and outcome measures. Content analysis revealed two themes for parents of CMC during this transition: (1) emotional distress, and (2) high expectations; and three themes for CMC: (1) improved health, (2) changes in emotion, and (3) disrupted relationships. Conclusion: The findings from this scoping review reveal for parents, transitions in care are fraught with emotional distress and high expectations; and for CMC there are improvements in quality of life and emotional health post- hospital to home transitions when collaborative models of care are available. This review serves as an early attempt to summarize the literature and demonstrate a need for further research.

Background: Sleep terrors are common, frightening, but fortunately benign events. Familiarity with this condition is important so that an accurate diagnosis can be made. Objective: To familiarize physicians with the clinical manifestations, diagnosis, and management of children with sleep terrors. Methods: A PubMed search was completed in Clinical Queries using the key terms " sleep terrors" OR " night terrors". The search strategy included meta-analyses, randomized controlled trials, clinical trials, observational studies, and reviews. Only papers published in the English literature were included in this review. The information retrieved from the above search was used in the compilation of the present article. Results: It is estimated that sleep terrors occur in 1 to 6.5% of children 1 to 12 years of age. Sleep terrors typically occur in children between 4 and 12 years of age, with a peak between 5 and 7 years of age. The exact etiology is not known. Developmental, environmental, organic, psychological, and genetic factors have been identified as a potential cause of sleep terrors. Sleep terrors tend to occur within the first three hours of the major sleep episode, during arousal from stage three or four non-rapid eye movement (NREM) sleep. In a typical attack, the child awakens abruptly from sleep, sits upright in bed or jumps out of bed, screams in terror and intense fear, is panicky, and has a frightened expression. The child is confused and incoherent: verbalization is generally present but disorganized. Autonomic hyperactivity is manifested by tachycardia, tachypnea, diaphoresis, flushed face, dilated pupils, agitation, tremulousness, and increased muscle tone. The child is difficult to arouse and console and may express feelings of anxiety or doom. In the majority of cases, the patient does not awaken fully and settles back to quiet and deep sleep. There is retrograde amnesia for the attack the following morning. Attempts to interrupt a sleep terror episode should be avoided. As sleep deprivation can predispose to sleep terrors, it is important that the child has good sleep hygiene and an appropriate sleeping environment. Medical intervention is usually not necessary, but clonazepam may be considered on a short-term basis at bedtime if sleep terrors are frequent and severe or are associated with functional impairment, such as fatigue, daytime sleepiness, and distress. Anticipatory awakening, performed approximately half an hour before the child is most likely to experience a sleep terror episode, is often effective for the treatment of frequently occurring sleep terrors. Conclusion: Most children outgrow the disorder by late adolescence. In the majority of cases, there is no specific treatment other than reassurance and parental education. Underlying conditions, however, should be treated if possible and precipitating factors should be avoided.

Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) is a clinical condition characterized by a sudden and dramatic obsessive-compulsive disorder with a suggested post-infectious immune-mediated etiology. This condition is accompanied by an extensive series of relatively serious neuropsychiatric symptoms. The diagnosis of PANS is made by "exclusion", as the individual PANS symptoms overlap with a multiplicity of psychiatric disorders with the onset in childhood. A number of researchers accumulated evidence to support the hypothesis that PANS was closely associated with a number of infections. In the last decade, metabolomics played an essential role in improving the knowledge of complex biological systems and identifying potential new biomarkers as indicators of pathological progressions or pharmacologic responses to therapy. The metabolome is considered the most predictive phenotype, capable of recognizing epigenetic differences, reflecting more closely the clinical reality at any given moment and thus providing extremely dynamic data. In the present work, the most recent hypothesis and suggested mechanisms of this condition are reviewed and the case of a 10 - year-old girl with PANS is described, before and after clarithromycin treatment. The main results of this case report are discussed from a metabolomics point of view. The alteration of several metabolic pathways concerning the microbial activity highlights the possible role of the microbiome in the development of PANS. Furthermore, different metabolic perturbations at the level of protein biosynthesis, energy and amino acid metabolisms are observed and discussed. Based on our observations, it is believed that metabolomics is a promising technology to unravel the mysteries of PANS in the near future.

Introduction: Preeclampsia is a pregnancy specific disorder which affects 2%-8% of all gestations and is associated with high maternal, fetal and neonatal morbidity and mortality worldwide. There is no “cure” for the disease except for early delivery of the fetus and placenta, however leaving preeclampsia a long term health risk both for mothers and infants. Aim: The aim of the study is to review currently available information linking preclampsia to longterm cardiovascular complications in infants and children. Results: Currently, there is evidence of predisposition to cardiovascular disease, and a higher incidence of cardiovascular risk factors among children born to preeclamptic mothers. Both in experimental models and human epidemiological studies it is now clear that the infants of pregnancies complicated by preeclampsia have an increased risk of developing high blood pressure and double the risk of stroke in later life. Preeclampsia is consistently associated with higher blood pressure and body mass index as early as 4–10 years of age. Also there is some evidence of higher cardiovascular risk in adults exposed to maternal hypertensive disorders of pregnancy. It seems that preeclampsia has an impact on the cardiovascular system independent of preterm birth and is associated with endothelial dysfunction, increased carotid intima media thickness and reductions in cardiac function that cannot be accounted for by prematurity alone. Conclusion: Taking into consideration the currently available evidence, it can now be suggested that preeclampsia is linked to adverse effects on the cardiometabolic health of the infant. Understanding the relationship between preeclampsia and cardiovascular disease will allow for implementation of early interventions to prevent or delay the onset of adverse events in this high risk population.

Aims: To review and present the current knowledge of incidence, signs and symptoms, diagnosis and treatment of the occipital encephalocele. Background: Encephalocele (E) is a defect of the neural tube that refers to congenital malformations featured by skull defect and dura with extracranial spread of intracranial structures. Occipital encephalocele (OE) are the most common form of this congenital disorder and are manifested as a swelling of different sizes over the occipital bone in the midline. Proper diagnosis and treatment is highly important in the management of this congenital malformation of brain. Objective: To review and present the current knowledge of incidence, signs and symptoms, diagnosis and treatment of the occipital encephalocele. Methods: We conducted a search of case reports or case-series of patients by the use of electronic databases: Pub Med, Medline, Index Medicus, Scorpus. The key words were: encephalocele, occipital encephalocele, neural tube defect, congenital malformation. The search was updated to December 31, 2018. Papers published in English were the only source of information. Results: Occipital encephalocelle are more frequent in females than in males. The incidence is between 1 in 3000 to 1 in 10,000 live births; approximately 90% of them involve the midline. Magnetic resonance imaging is the method of choice in diagnosis and surgery is the best option for the treatment of OE. Overall morbidity and mortality is still high in spite of advenced surgical management, but have been significantly improved in recent years thanks to sophisticated highresolution imaging, adequate and proper surgical treatment and decent post-operative care. Conclusion: Occipital encephalocele is the most common form of encephalocele. The diagnosis is mostly based by the use of neuroimaging techniques. Operation is the best option for treatment. Overall morbidity and mortality is still high, but have been significantly improved in recent years thanks to sophisticated high-resolution imaging, adequate and proper surgical treatment and decent post-operative care.

Eosinophilic esophagitis (EoE) is an emerging chronic immune and antigen-mediated clinicopathologic disease. During the last 2 decades, the incidence of this condition in children has increased significantly, thanks to practitioners for creating the awareness and higher use of diagnostic endoscopy. We have analysed paediatric literature on EoE focusing on the epidemiology, pathophysiology, clinical findings and diagnostic approach. EoE is pathogenically related to a Th2 inflammation characterized by a mixed IgE and non-IgEmediated reaction to food and/or environmental agents. This leads to esophageal dysfunction and remodeling accompanied by subepithelial fibrosis. EoE can be presented with several range of gastrointestinal symptoms, including regurgitation, vomiting, feeding difficulties or feeding refusal in infants and toddlers, as well as heartburn, dysphagia and food bolus impaction in older children and adults. The diagnostic suspicion is based on the presence of chronic symptoms of esophgeal dysfunction and esophageal eosinophilia characterised histologically by a significant eosinophilic infiltration of the oesophageal mucosa (>15 eosinophils per high powered field). In this review, we will provide an update on clinical presentation and diagnostic approach to EoE in children. We emphasized on the relevant aspects of the new clinical condition termed “PPI responsive esophageal eosinophilia”, as entities distinct from EoE and the role of PPI trial in the diagnostic workup, therefore we proposed a new diagnostic algorithm.

Healthy teeth allow us to eat and stay well-nourished. Although primary care clinicians receive limited training about teeth, given the common nature of dental problems, it is important that they understand and recognize normal and abnormal dental conditions and can implement primary and secondary prevention of dental conditions in their practice. PubMed has been used to search the scientific literature for evidence on the following topics: normal dental development, dental abnormalities, malocclusion, teething, dental caries and related epidemiology and prevention, fluoride, dental injury and its management and prevention; and identification, prevention and treatment of gingivitis and periodontal disease. Literature review relied on randomized controlled trials, meta-analyses, systematic reviews, and Cochrane reviews when relevant and available. Other sources of evidence included cohort and case-control studies. Consensus statements and expert opinion were used when there was a paucity of high-quality research studies. The literature has been synthesized on these topics to make them relevant to pediatric primary care clinicians, and as available, the strength of evidence has been characterized when making clinical recommendations.

Background: Best practices for pediatric clinical outcomes assessment (COA) development rely on guidelines that have been developed for adult populations. While some useful resources are available to support pediatric COA development, this information has primarily come from within the measurement development field. To our knowledge, no research has explored the experiences of professionals from other disciplines who interact with children on a routine basis. Aims and Objectives: The goal of this research was to explore the experiences of professionals from outside of the measurement science field, who work closely with children every day, in settings relevant to the context of concept elicitation and cognitive debriefing interviews for pediatric COA development. The objectives were to 1) learn new ways to engage children in conversations regarding their health state; 2) understand how methods used in other disciplines can be used to improve the amount and quality of data emerging from pediatric qualitative interviews; and 3) generate a list of references to support pediatric COA development. Methods: Individual, one-to-one expert advice meetings were conducted over the phone or in person and lasted approximately 60 minutes in duration. One child life specialist, one speech/language pathologist, and three reading specialists were consulted, given their role in evaluating children’s comprehensive abilities as well as their daily interactions with children. Two experienced COA researchers conducted the expert advice meetings using a semi-structured interview guide to provide a framework for discussion. Results: These experts reported that factors such as interview setting, time taken to build rapport with the child, the child’s comfort level, presence or absence of caregiver during the interview, the child’s communication style, disease-related factors, and the child’s developmental age may influence the amount and type of information that is possible to elicit during qualitative interviews. Several of these factors are also important for cognitive debriefing interviews. In addition, experts provided input that may improve the debriefing procedure, such as having the child read the text aloud in small increments, re-read text, and highlight text that they do not understand. Best practice tips from the experts were consolidated into a set of references for use by those conducting pediatric COA development research. Conclusion: Incorporating interdisciplinary perspectives into pediatric COA development may improve both the methods used to elicit information from children and the quality of the resulting questionnaires.

Background: Celiac disease is an immune-mediated disorder characterized by variable clinical manifestations, specific antibodies, HLA-DQ2/DQ8 haplotypes, and enteropathy. Objectives: The aim of this study was to present the clinical spectrum and patterns of celiac disease in Kosovar Albanian children. Methods: A cross-sectional retrospective study was performed with Albanian children aged 0-18 years, treated for celiac disease in the Pediatric Clinic, University Clinical Center of Kosovo from 2005 to 2016. Results: During the study period, 63 children were treated for celiac disease. The mean age at diagnosis was 5.5 years (SD ± 3.31). The mean age at celiac disease onset was 3.3 years (SD ± 2.02), while the mean delay from the first symptoms indicative of celiac disease to diagnosis was 2.2 years (SD ± 2.09). More than 70% of the patients were diagnosed in the first 7 years of life, mainly presented with gastrointestinal symptoms, while primary school children and adolescents mostly showed atypical symptoms (p<0.001). The classical form of celiac disease occurred in 78% of the cases. Sixty (95%) patients carried HLA-DQ2.5, DQ2.2 and/or HLA-DQ8 heterodimers, and only three of them tested negative. Conclusion: Kosovo, as the majority of developing countries, is still facing the classical form of celiac disease as the dominant mode of presentation; as a result, most children with other forms of the celiac disease remain undiagnosed. Physicians should be aware of the wide range of clinical presentations and utilize low testing thresholds in order to prevent potential long-term problems associated with untreated celiac disease.