"Electro-clinical Syndromes" with onset in Paediatric Age. the highlights of the clinical-EEG, genetic and therapeutic advances

The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited. Thus, at present, classification of epileptic disorders should be mainly based on electroclinical features. Electro-clinical syndrome is a term used to identify a group of clinical entities showing a cluster of electro-clinical characteristics, with signs and symptoms that together define a distinctive, recognizable, clinical disorder. These often become the focus of treatment trials as well as of genetic, neuropsychological, and neuroimaging investigations. They are distinctive disorders identifiable on the basis of a typical age onset, specific EEG characteristics, seizure types, and often other features which, when taken together, permit a specific diagnosis which, in turn, often has implications for treatment, management, and prognosis. Each electro-clinical syndrome can be classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. Therefore, according to the age at onset, here we review the more frequently observed paediatric electro-clinical syndrome from their clinical-EEG, genetic and therapeutic point of views

Sleep clinical record. what differences in school and preschool children?

The sleep clinical record (SCR) may be a valid method for detecting children with obstructive sleep apnoea (OSA). This study aimed to evaluate whether there were differences in SCR depending on age and to identify the possible risk factors for OSA development. We enrolled children with sleep disordered breathing between 2013 and 2015, and divided them according to age into preschool- and school-age groups. All patients underwent SCR and polysomnography. OSA was detected in 81.1% and 83.6% of preschool- and school-age groups, respectively. Obesity, malocclusions, nasal septal deviation and inferior turbinate hypertrophy were significantly more prevalent in school-age children (p6.5 had a sensitivity of 74% in predicting OSA in preschool children with positive predictive value of 86% (p=0.0001). Our study confirms the validity of the SCR as a screening tool for patient candidates for a PSG study for suspected OSA, in both school and preschool children

"EEG abnormalities" may represent a confounding factor in celiac disease. A 4-year follow-up family report

Objective: The occurrence of celiac disease (CD), electroencephalographic (EEG) abnormalities (with "subtle" seizures or even without any clinical seizures), and neurological disorders has been reported since the 1980s, though there has been no definitive consensus about the possible causal relationship. This topic is further complicated by the occurrence in infancy of 'clinical-EEG pictures' called 'benign epilepsy of infancy'. Methods and results: Here, we report a 4-year follow-up on two siblings with newly diagnosed biopsy-proven celiac disease showing EEG abnormalities not responsive to a gluten-free diet. Conclusions: This family report indicates that in patients with neurologically asymptomatic CD and EEG abnormalities, it is advisable to make a differential diagnosis between EEG abnormalities associated with CD and an incidental association with cortical hyperexcitability, with "subtle" seizures or even without any clinical seizures. Practice implications: A long follow-up may sometimes be required, as it was in the family described here, to clarify the etiopathogenetic and therapeutic relationships between clinical and EEG features in CD

Pyridostigmine in pediatric Intestinal pseudo-obstruction. case report of a 2-year old girl and literature review

Pediatric chronic intestinal pseudo-obstruction is a rare disorder characterized by a severe impairment of gastrointestinal motility leading to intestinal obstruction symptoms in the absence of mechanical causes. The diagnosis is usually clinical and diagnostic work is usually aimed to rule out mechanical obstruction and to identify any underlying diseases. Treatment is challenging and requires a multidisciplinary effort. In this manuscript we describe the youngest child successfully treated with the orally administrable, longacting, reversible anti-cholinesterase drug, pyridostigmine. Like other drugs belonging to cholinesterase inhibitors, pyridostigmine enhances gut motility by increasing acetylcholine availability in the enteric nervous system and neuro-muscular junctions. Based on the direct evidence from the reported case, we reviewed the current literature on the use of pyridostigmine in severe pediatric dysmotility focusing on intestinal pseudo-obstruction. The overall data emerged from the few published studies suggest that pyridostigmine is an effective and usually well tolerated therapeutic options for patients with intestinal pseudo-obstruction. More specifically, the main results obtained by pyridostigmine included marked reduction of abdominal distension, reduced need of parenteral nutrition, and improvement of oral feeding. The present case and review on pyridostigmine pave the way for eagerly awaited future randomized controlled studies testing the efficacy of cholinesterase inhibitors in pediatric severe gut dysmotility

SURGICAL AND NON-SURGICAL THERAPY OF OBSTRUCTIVE SLEEP APNEA SYNDROME IN CHILDREN.

Interventions of paediatric obstructive sleep apnea syndrome are complex, varied and multidisciplinary. The goal of the treatment is to restore optimal breathing during the night and to relieve associated symptoms. Evidence suggests that the surgical intervention with removal of the tonsils and adenoids will lead to significant improvements in the most incomplicated cases, as recently reported from a meta-analysis. However, post-operative persistence of this syndrome in paediatric population is more frequent than expected, which supports the idea of the complexity of this syndrome. Adenotomy alone may not be sufficient in children with OSAS, because it does not address oropharyngeal obstruction secondary to tonsillar hyperplasia. Continuous positive airway pressure can effectively treat this syndrome in selected groups of children, improving both nocturnal and daytime symptoms, but poor adherence is a limiting factor. For this reason, CPAP is not recommended as first-line therapy for OSAS when adenotonsillectomy is an option. It is now being investigated the incorporation of nonsurgical approaches for milder forms and for residual OSAS after surgical intervention. Althought adeno­tonsillar hypertrophy is the most common for OSAS in children; obesity is emerging as an equally important etiological factor. Therefore an intensive weight reduction program and adequate sleep hygiene are also important lifestyle changes that may be very effective in mitigating the symptoms of this syndrome. Pharmacological therapy (leukotriene antagonists, topical nasal steroids) is usually use for mild forms of OSAS and in children with associated allergic diseases. Special orthodontic treatment and oropharyngeal exercises are a relatively new and promising alternative therapeutic modality used in selected groups of children with OSAS

Sleep Clinical Record application in Brazilian children and its comparison with Italian children

Abstract Objective To apply the Sleep Clinical Record (SCR) to a sample of Brazilian children with sleep complaints, to compare the results with Italian children, and to identify variables that influence phenotype. Methods Brazilian and Italian children, 4−11 years of age and matched for age, gender, obesity, and apnea−hypopnea index and who presented with complaints related to sleep, were selected. The instrument used was the SCR, and the procedure used was full-night cardiorespiratory monitoring. Results The sample consisted of 51 Brazilian children and 102 Italian children. Brazilian children presented with oral breathing (55%), tonsillar hypertrophy (69%), Friedman palate position (88%), malocclusion (84%), and OSAS score (Brouilette questionnaire) (55%). The SCR among obese Brazilian children was higher as compared to that in nonobese subjects (obese, 10.84 vs nonobese, 9.13; p = 0.03). In the comparison between Brazilian and Italian children, the total Brazilian SCR was higher than the Italian SCR score (Brazilian SCR, 10.21 ± 7.56; Italian SCR, 8.95 ± 2.55; p = 0.002). The Italian SCR score was influenced by obesity, whereas the Brazilian SCR was influenced by others symptoms (daytime sleepiness, enuresis, nocturnal choking, headache, limb movements). Conclusion Brazilian children with sleep-disordered breathing show a higher SCR score as compared to Italian children. Obesity and tonsillar hypertrophy, Friedman palate position alteration, and dental malocclusion further influenced the total SCR score among Brazilian children. This may be due to access difficulties in Brazil where children should have more assistance to obtain medical care

Migraine treatment in developmental age: guidelines update

There is a serious lack of controlled studies on the pharmacological treatment of primary migraine in the developmental age; there is, consequently, an urgent need for new, evidence-based approaches to this long-neglected field of research. Moreover, previous studies have stated that the placebo response is greater in pediatric patients than in adults and that a reduction in the attack frequency in the absence of any pharmacological treatment is observed more frequently in pediatric migraine patients than in adults. Besides these preliminary considerations, the shorter duration of migraine attacks and other characteristic semeiological features of the clinical picture in children are such that the design of randomized controlled trial (RCT) is more problematic in the developmental age than in the adult. Bearing in mind all these weak points, the aim of this review was to summarize and update recent guidelines for the treatment of primary migraine in children and adolescents. The most recent guidelines are those published by the Italian Society for the study of Headache, the French Society for the study of Migraine and Headache, and the American Academy of Neurology. We have incorporated into these guidelines the results from the few, recent RCTs, clinical controlled trials, open-label studies, meta-analyses and reviews that have been published since 2004; owing to the lack of strong evidence in this field of research, we have sometimes even mentioned pilot noncontrolled studies, case series and expert opinions. Lastly, evidence was classified and the recommendations were categorized according to different levels

Early cardiac abnormalities and increased C-reactive protein levels in a cohort of children with sleep disordered breathing

This study aims to evaluate left ventricular (LV) structure and function and inflammation in a paediatric population with sleep disordered breathing (SDB) and in control subjects. Forty-nine children with SDB and 21 healthy, age-matched subjects were enrolled. The diagnosis of obstructive sleep apnoea syndrome (OSAS) was confirmed by the laboratory polysomnography, showing an obstructive apnoea/hypopnoea index of more than one per hour, according to the criteria of the American Academy of Sleep Medicine and modified for paediatric population. Fasting blood samples for the biochemical evaluation (including high-sensitivity C-reactive protein (hsCRP) were drawn in the morning, after the polysomnographic examination in all patients with SDB and in the control group. All children underwent a two-dimensional colour Doppler cardiac examination with LV mass assessment and systolic and diastolic function evaluation. Higher hsCRP levels were observed in subjects with OSAS than in children with primary snoring and in controls (0.8 +/- 0.7 vs 0.3 +/- 0.1 ng/dl, p = 0.001, and 0.4 +/- 0.2 ng/dl, p = 0.01, respectively). The LV diastolic dysfunction was significantly more frequent in patients with severe OSAS and higher hsCRP levels than in control group. This study shows that OSAS in children is associated with higher LV mass, early LV diastolic dysfunction and a pro-inflammatory state (high CRP levels). These findings might help to explain the higher incidence of cardiovascular morbidity in patients with OSAS

“Epileptic Encephalopathy” of Infancy and Childhood: Electro-Clinical Pictures and Recent Understandings

There is growing interest in the diagnosis of cognitive impairment among children with epilepsy. It is well known that status of seizures control has to be carefully investigated because it can be sufficient “per se” to cause progressive mental deterioration conditions. Subclinical electroencephalographic discharges may have subtle effects on cognition, learning and sleep patterns, even in the absence of clinical or sub-clinical seizures. In this respect, electroencephalographic monitoring (long-term and nocturnal recording) and in particular an all night video-polysomnography (V-NPSG) record can be crucial to detect the presence of unrecognized seizures and/or an inter-ictal nocturnal EEG discharge increasing. Epileptic encephalopathies (EE) are a group of conditions in which the higher cognitive functions are deteriorate as a consequence of epileptic activity, which, in fact, consists of frequent seizures and/or florid and prolonged interictal paroxysmal discharges, focal or generalized. AEDs represent the first line in opposing the burden of both, the poor seizures control and the poor interictal discharges control, in the cognitive deterioration of EE affected children. Thus, to improve the long-term cognitive/behavioural prognosis in these refractory epileptic children, it should be taken into account both a good seizures control and a strict sleep control, choosing carefully antiepileptic drugs which are able to control not only seizures clinically recognizable but even the EEG discharges onset and its increasing and spreading during sleep. Here, we review the efficacy and safety of the newer AEDs that, to date, are used in the treatment of EE in infancy and childhood