"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

Central Precocious Puberty and Response to GnRHa Therapy in Children with Cerebral Palsy and Moderate to Severe Motor Impairment: Data from a Longitudinal, Case-Control, Multicentre, Italian Study

Children affected by neurodevelopmental disability could experience early pubertal changes at least 20 times more than the general population. Limited data about central precocious puberty (CPP) among children affected by cerebral palsy (CP) are available. Methods. This is a longitudinal, observational, retrospective, case-control study involving 22 children affected by CPP and CP (group A), 22 paired with CP but without CPP (group B), and 22 children with CPP without CP. Auxological, biochemical, and instrumental data were collected at diagnosis of CPP and at 2 follow-up visits. Results. No differences were detected between groups A (at baseline) and B. At diagnosis of CPP, height SDS adjusted for target height (H-TH SDS) was significantly reduced in A than in C ( 120.63 \ub1 1.94 versus 1.56 \ub1 1.38), while basal LH and oestradiol levels were significantly elevated in A than in C. During follow-up, despite an effective treatment, growth impairment deteriorated in A than in C (\u394 H-SDS from diagnosis of CPP to last follow-up: 120.49 \ub1 0.91 versus 0.21 \ub1 0.33, p = 0 023). Conclusions. Diagnosis of CPP could be partially mislead in CP due to growth failure that got worse during follow-up despite therapy. CPP in CP seems to progress rapidly along time supporting the hypothesis of a more intense activation of hypothalamic-pituitarygonadal- axis in these patients

Panayiotopoulos syndrome: a consensus view

The aim of this paper is to promote the correct classification of, and provide guidelines on, the diagnosis and management of panayiotopoulos syndrome (ps). an international consortium of established researchers in the field collaborated to produce a consensus document. the resulting document defines ps, characterizes its electro-clinical features, considers its likely pathogenesis, and provides guidance on appropriate management. we conclude that ps is a common idiopathic, benign seizure disorder of childhood, which should be classified as an autonomic epilepsy, rather than an occipital epilepsy.</p

Focal Epilepsy Associated with Glioneuronal Tumors

Glioneuronal tumors are an increasingly recognized cause of partial seizures that occur primarily in children and young adults. Focal epilepsy associated with glioneuronal tumors is often resistant to pharmacological treatment. The cellular mechanisms underlying the epileptogenicity of glioneuronal tumors remain largely unknown. The involved mechanisms are certain to be multifactorial and depend on specific tumor histology, integrity of the blood-brain barrier, characteristics of the peritumoral environment, circuit abnormalities, or cellular and molecular defects. Glioneuronal tumors presenting with epilepsy were observed to have relatively benign biological behavior. The completeness of the tumor resection is of paramount importance in avoiding tumor progression and malignant transformation, which are rare in cases of epileptogenic glioneuronal tumors. An evolving understanding of the various mechanisms of tumor-related epileptogenicity may also lead to a more defined surgical objective and effective therapeutic strategies, including antiepileptogenic treatments, to prevent epilepsy in at-risk patients

Peroxisome Proliferator-Activated Receptors as Mediators of Phthalate-Induced Effects in the Male and Female Reproductive Tract: Epidemiological and Experimental Evidence

There is growing evidence that male as well as female reproductive function has been declining in human and wildlife populations over the last 40 years. Several factors such as lifestyle or environmental xenobiotics other than genetic factors may play a role in determining adverse effects on reproductive health. Among the environmental xenobiotics phthalates, a family of man-made pollutants are suspected to interfere with the function of the endocrine system and therefore to be endocrine disruptors. The definition of endocrine disruption is today extended to broader endocrine regulations, and includes activation of metabolic sensors, such as the peroxisome proliferator-activated receptors (PPARs). Toxicological studies have shown that phthalates can activate a subset of PPARs. Here, we analyze the epidemiological and experimental evidence linking phthalate exposure to both PPAR activation and adverse effects on male and female reproductive health

The Methylenetetrahydrofolate Reductase and Polymorphism C677T in the Children with Headache

ABSTRACT Background: The headaches are a heterogeneous clinical manifestations characterized not only by pain but also by a severe multifactorial disabilities, often associated with other comorbidities that severely affects the patient’s quality of life. And ‘it is known for some time the risk of cerebrovascular disease in migraine patients. Numerous studies showed the association between the enzyme MTHFR mutations , the T allele and genotype TTand migraine, particularly migraine with aura. Aim of the study: On the basis of theliterature data we propose to evaluate the prevalence of the MTHFR mutation in the population of patients admitted to a headache center of the childhood. Materials and methods: Weexamined 226 children, aged 5-17 years,admitted to “Headache Center” of Children Neuropsychiatry of Hospital San Salvatore L’Aquila, from 2013 to the year 2015. The diagnosis of headache are made according toICHD III criteria. The identifi cation of the MTHFR C677T polymorphism of the enzyme was carried out by the Real-time PCR qualitative. The statistical analysis by SAS System. Results: Diagnosis of migraine without aura in 96 patients, migraine with aura in 39, in 18 chronic migraine, Frequent episodic tension-type headache in 40, chronic tension type headache in 20 and in 13 other headaches. 61 patients are without mutation, 85 with heterozygous mutation, and 28 homozygous. Therefore, the mutation is present in 147 patients with a percentage of 65%. The heterozygous mutation is present in 50.56% of females and 47.06% males; the homozygous in 10.19% and 12.94% in females than males. In migraineurs the mutation is present in 66.67% compared with patients with tension-type headache (33.33%), homozygous is the 70.37% versus 29.63% (p <0.001). Homocysteine levels are elevated only nell’8.69% of mutated patients, of which 5/12 patients have a mutation in homozygosity. Conclusions: We confi rme the statistical association between MTHFR mutationboth in the heterozygous and homozygous forms and migraines.The migraines with aura, unlike the literature, does not seem to have a important role. Also the homocysteine not seems statistically affect the trends of the forms of headaches examined

“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

New antiepileptic drugs in the treatment of Lennox-Gastaut syndrome

Lennox–Gastaut syndrome is a childhood epileptic encephalopathy characterised by polymorphic seizures and neuropsychological decline. The most characteristic seizures are tonic fits, atypical absences and atonic seizures, in that order. Treatment options for patients with LGS are limited because of the resistance of seizures to pharmacological treatment. Owing to the many seizure types, many drugs are used in combinations that are mostly guided by anecdotal evidence or personal experience. Opinions towards treatment are further complicated because an antiepileptic drug might be of some benefit for the control of one type of seizure while aggravating another type. Concomitantly, polytherapy increases the potential for adverse events. The ultimate goal of epilepsy treatment is to achieve seizure control in a safe manner. Seizure freedom appears to be unrealistic in some refractory epilepsies, especially LGS. In this Review, we discuss newer antiepileptic drugs (Felbamate, Lamotrigine, Levetiracetam, Topiramate, Rufinamide, Vigabatrin, Zonisamide) in the treatment of Lennox-Gastaut syndrome. Investigation of the effects of newer medications might help to identify treatments that, when used in the early stages of the disorder, might have long-term beneficial effects on seizures and the associated comorbidities. Key words: antiepileptic drugs, Lennox- Gastaut syndrome, epileps

Clinical and Pharmacological Aspects of Inflammatory Demyelinating Diseases in Childhood: An Update

Inflammatory demyelinating diseases comprise a spectrum of disorders affecting the myelin of the central and peripheral nervous system. These diseases can usually be differentiated on the basis of clinical, radiological, laboratory and pathological findings

Secondary involvement of Meckel’s diverticulum by group A β-hemolytic streptococcus in a child with upper airways infection treated by laparoscopic-assisted resection

We report a case of a 5-year-old boy with acute abdomen following an upper airways infection who developed Meckel’s diverticulum perforation secondary to group A β-hemolytic streptococcus and its successful treatment by a laparoscopic-assisted intervention. To the best of our knowledge, such an event has never been reported previously.Keywords: group A β-hemolytic streptococcus, intestinal perforation, Meckel’s diverticulu