Fusiform gyrus responses to neutral and emotional faces in children with autism spectrum disorders: a high density ERP study.

Face processing is a neural mechanism that allows understanding social information and cues conveyed by faces, whose dysfunction has been postulated to underlie some of the behavioral impairments characterizing autism spectrum disorders (ASD). A special region of the cortex, the fusiform gyrus (FG), is believed to be the specific area for processing face features and emotions. However, behavioral, fMRI and ERP studies addressed to investigate the role of FG dysfunction in ASD have led to conflicting results. Using a high-density EEG system, we recorded the face-sensitive ERP to neutral and emotional (happiness and fearful) faces, as a measure of early activity of the FG, in children with high functioning ASD. By controlling a number of experimental and clinical variables that could have biased previous research--such as gaze direction, attention to tasks, stimulus appearance and clinical profiles--we aimed to assess the effective role of the FG in the face emotion processing deficit hypothesized in ASD. No significant differences in early face-sensitive ERP components were found between ASD and neurotypical children. However, a systematic latency delay and amplitude reduction of all early potentials were observed in the ASD group, regardless of the stimulus, although more evident for emotions. Therefore, we can assume a diffuse dysfunction of neural mechanisms and networks in driving and integrating social information conveyed by faces, in particular when emotions are involved, rather than a specific impairment of the FG-related face processing circuit. Nevertheless, there is need of further investigation.

Plasma free carnitine in epilepsy children, adolescents and young adults treated with old and new antiepileptic drugs with or without ketogenic diet.

This study was performed to evaluate carnitine deficiency in a large series of epilepsy children and adolescents treated with old and new antiepileptic drugs with or without ketogenic diet. Plasma free carnitine was determined in 164 epilepsy patients aged between 7 months and 30 years (mean 10.8 years) treated for a mean period of 7.5 years (range 1 month-26 years) with old and new antiepileptic drugs as mono or add-on therapy. In 16 patients on topiramate or lamotrigine and in 11 on ketogenic diet, plasma free carnitine was prospectively evaluated before starting treatment and after 3 and 12 months, respectively. Overall, low plasma levels of free carnitine were found in 41 patients (25%); by single subgroups, 32 out of 84 patients (38%) taking valproic acid and 13 of 54 (24%) on carbamazepine, both as monotherapy or in combination, showed low free carnitine levels. A higher though not statistically significant risk of hypocarnitinemia resulted to be linked to polytherapy (31.5%) versus monotherapy (17.3%) (P=.0573). Female sex, psychomotor or mental retardation and abnormal neurological examination appeared to be significantly related with hypocarnitinemia, as well. As to monotherapy, valproic acid was associated with a higher risk of hypocarnitinemia (27.3%) compared with carbamazepine group (14.3%). Neither one of the patients on topiramate (10), lamotrigine (5) or ketogenic diet (11) developed hypocarnitinemia during the first 12 months of treatment. Carnitine deficiency is not uncommon among epilepsy children and adolescents and is mainly linked to valproate therapy; further studies are needed to better understand the clinical significance of serum carnitine decline.

Lamotrigine versus valproic acid as first-line monotherapy in newly diagnosed typical absence seizures: an open-label, randomized, parallel-group study.

PURPOSE: To compare the efficacy of lamotrigine (LTG) and valproic acid (VPA) in newly diagnosed children and adolescents with typical absence seizures. METHODS: A randomized, open-label parallel-group design was used. After undergoing an awake video-EEG recording, which included one to two trials of 3 min of hyperventilation and intermittent photic stimulation, eligible patients were randomized to receive LTG or VPA. LTG was initiated at a daily dose of 0.5 mg/kg for 2 weeks in two divided doses, followed by 1.0 mg/kg/day for an additional 2 weeks. Thereafter, doses were increased in 1-mg/kg/day increments every 5 days until seizures were controlled, intolerable adverse effects occurred, or a maximum dose of 12 mg/kg/day had been reached. VPA was equally uptitrated according to clinical response, starting at 10 mg/kg and increasing by 5 mg/kg/24 h every 3 days, if required, to a maximum of 30 mg/kg/day in three divided doses. Patients were seen in the clinic every month for < or = 12 months. The primary efficacy end point at each visit was seizure freedom, defined as lack of clinically observed seizures since the previous visit and lack of electroclinical seizures during ambulatory 24-h EEG testing and a video-EEG session with hyperventilation. RESULTS: Thirty-eight children (17 boys, 21 girls), aged from 3 to 13 years (mean, 7.5 years), all newly diagnosed with childhood or juvenile typical absence seizures, were enrolled. After 1 month of treatment, 10 (52.6%) of 19 children taking VPA and one (5.3%) of 19 taking LTG were seizure free (p = 0.004). By the 3-month follow-up, 12 (63.1%) children taking VPA and seven (36.8%) taking LTG were controlled (p = 0.19). After 12 months, 13 children taking VPA (dose range, 20-30 mg/kg/day; mean serum level, 76.8 mg/L; range, 51.4-91 mg/L) and 10 taking LTG (dose range, 2-11 mg/kg/day; mean serum level, 8.1 mg/L; range, 1.1-18 mg/L) were seizure free (p = 0.51). Side effects were mostly mild and transient and were recorded in two (10.6%) children treated with VPA and in six (31.8%) treated with LTG. CONCLUSIONS: Both VPA and LTG can be efficacious against absence seizures, although VPA shows a much faster onset of action, at least in part because of its shorter titration schedule.

Unusual compulsive motor activity during treatment with clothiapine in a mentally retarded adolescent.

Atypical antipsychotic agents, specifically those with a high hyposerotonergic activity such as clozapine and clothiapine, have been associated with de novo obsessive-compulsive symptoms. We report the case of a 16-year-old adolescent male with severe mental impairment and disruptive behaviour who developed a compulsive head and body turning disorder on clothiapine. Such a symptom had to be distinguished from epileptic partial seizures; it promptly disappeared with the drug discontinuation.

Focal polymicrogyria, continuous spike-and-wave discharges during slow-wave sleep and Cohen syndrome: a case report.

Cohen syndrome is a rare genetic disorder consisting of truncal obesity, hypotonia, mental retardation, characteristic facial appearance and ocular anomalies. Other diagnostic clinical features include narrow hands and feet, low growth parameters, neutropenia and chorioretinal dystrophy. Here, we report an 18-year-old male with Cohen syndrome associated with focal polymicrogyria and continuous spike-and-wave discharges during slow-wave sleep.