Prenatal and perinatal determinants of neonatal seizures occurring in the first week of life

To evaluate prenatal and perinatal risk factors for early neonatal seizures, we conducted a case-control study including 100 newborns with neonatal seizures in the first week of life and 204 controls randomly selected from a list of healthy newborns born in the same hospital during the study period. Generalized tonic seizures were the most common seizures observed (29%), although the majority of newborns (71%) experienced more than one type of seizure. The most frequent presumed etiology of neonatal seizures was hypoxic-ischemic encephalopathy (30%). A history of epilepsy in first-degree relatives was found only for cases. Neonatal seizures were found to be associated with maternal disease in the 2 years before pregnancy, mother's weight gain > 14 kg during pregnancy, placental pathology, preeclampsia, low birthweight, low gestational age, and jaundice in the first 3 days of life. The need for cardiopulmonary resuscitation was found only for cases (37%). The causal pathways for neonatal seizures often begin before birth, and some of the factors identified may be preventable.     

Chronic HPV correlated lymphedema of external genitals: a case report

The Authors describe an unusual case of association between skin lymphangiomas and HPV infection in external genitals. The encountered difficulties in diagnosis represented an excellent example of efficient integration among specialists of different medical branches     

Effectiveness of community-based treatment on clinical outcome in children with autism spectrum disorders: An Italian prospective study

Objective: Little is known about outcomes of Autism Spectrum Disorders (ASDs) interventions in real-life settings. The main aim of this naturalistic study was to collect real-life data on the actual ASDs treatment practices in Italy.

Methods: A cohort of 48 children undergoing community-based interventions was observed in terms of personal and environmental characteristics, treatment typology and outcomes.

Results: An earlier start of treatment was associated with an improvement of autistic symptoms, independently from symptoms severity (p?<?0.05), but not with improvements in terms of intelligence quotient (p?=?0.8). Children belonging to lower socioeconomic status families began treatment later (48.0 months) than those belonging to middle (39.8 months) or upper (39.2 months) classes (p?<?0.05), and received less hours of treatment.

Conclusion: The study showed that ASDs interventions should be observed not only in experimental settings, but also in naturalistic environments, so to appraise the actual effectiveness of integrating different treatment methods in community settings.     

Changes in cortical excitability differentiate generalized and focal epilepsy

OBJECTIVE: Different pathophysiological mechanisms related to the balance of cortical excitatory and inhibitory influences may underlie focal and generalized epilepsies. We used transcranial magnetic stimulation to search for interictal excitability differences between patients with idiopathic generalized epilepsy (IGE) and focal epilepsy. METHODS: Sixty-two drug-naive patients with newly diagnosed epilepsy (35 IGE, 27 focal epilepsy) were studied. In the latter group, the seizure focus was not located in the motor cortex. Motor threshold at rest, cortical silent period threshold, recovery curve analysis using paired-pulse stimulation at a number of interstimulus intervals), and cortical silent period were determined. Results were compared with those of 29 control subjects. RESULTS: Hyperexcitability was noted in the recovery curves at a number of interstimulus intervals in both hemispheres in patients with IGE and in the hemisphere ipsilateral to the seizure focus in those with focal epilepsy compared with control subjects and the contralateral hemisphere in focal epilepsy. Motor threshold and cortical silent period threshold were higher in the ipsilateral hemisphere in focal epilepsy compared with the contralateral hemisphere. No other intragroup or intergroup differences were found in the other measures. INTERPRETATION: The disturbance of cortical excitatory/inhibitory function was found to be bilateral in IGE, whereas in focal epilepsy it spread beyond the epileptic focus but remained lateralized. This finding confirms that there are differences in cortical pathophysiology comparing the two major types of epilepsy.     

Interstitial deletion of a proximal 3p: a clinically recognisable syndrome

Interstitial deletions of the proximal short arm of chromosome 3 occurring as constitutional aberrations are rare and a defined clinical phenotype is not established yet. We report on a 30-months-old girl with distinct facial features (square facies, plagiocephaly, broad forehead, broad nasal bridge, long philtrum and low set ears) and psychomotor/speech delay associated with an interstitial deletion of 3p12 chromosomal band, del(3)(p12p12). Clinical manifestations of our child were compared with those of other eight patients with the same deletion previously described to further delineate the proximal 3p deletion syndrome.     

Clinical features of psychogenic non-epileptic seizures in prepubertal and pubertal patients with idiopathic epilepsy

A retrospective multicentre study was performed to analyse psychogenic non-epileptic seizures (PNES) in prepubertal and pubertal patients with idiopathic epilepsy and to determine whether have different clinical characteristics. In this study, we reviewed 36 patients from six neurological referral centres: Department of Pediatrics, Chieti (3 patients); Department of Child Neuropsychiatry, Naples (9 patients); Department of Child Neuropsychiatry, Bologna (8 patients); Department of Neuroscience, Tor Vergata University, Rome (3 patients); Department of Pediatrics, La Sapienza University, Rome (5 patients); and Department of Pediatrics, Siena (8 patients). The population was divided according to Tanner’stages into 14 prepubertal (group I) and 22 pubertal (group II) patients. The two groups were compared on several variables examining the differences between them. The most frequent clinical manifestations in group I were unresponsive events, whereas in group II, motor events were exhibited more significantly. Mood disorders, including major depression, appeared more frequently in pubertal group, but this did not reach a significant difference. Among the psychosocial stressors, fear of rejection and need for attention were the predominant types in the prepubertal patients. The findings of this study reveal some similarities and differences between prepubertal and pubertal patients, which might help to identify predictive factors in patients affected by idiopathic epilepsy who can develop PNES.     

Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism

Terminal deletion of the long arm of chromosome 2 is a rare chromosomal disorder characterized by low birth weight, delayed somatic and mental development, craniofacial defects, short neck, heart and lung congenital defects, and autistic features. We report on a girl with 46,XX.ish del(2)(q37.1) de novo karyotype, mental retardation, dysmorphic features, gastrointestinal anomalies, and autistic traits and compare her clinical manifestations with patients with the same deletion previously described in literature.     

Intraoperative monitoring to preserve central visual fields during occipital corticectomy for epilepsy.

Photic driving using a flashing strobe light was recorded via intracranial electrodes in two patients with occipital epilepsy being evaluated for surgery. The same technique was used to monitor the visual cortex intraoperatively. Visual evoked potentials (VEPs) were also obtained using the intracranial electrodes in one patient. Preoperative photic driving occurred in a separate location from the cortical areas producing ictal epileptiform activity. VEPs were located in the same site as photic driving. Photic driving was monitored throughout the resection and remained unaffected at the end of each procedure. Postoperative visual field testing in both patients showed preservation of central vision although some reduction in peripheral fields was seen. Intraoperative monitoring of the visual cortex using photic stimulation proved to be a reliable technique for preserving central vision during occipital lobe surgery.