Efficacy and tolerability of oral lacosamide as adjunctive therapy in pediatric patients with pharmacoresistant focal epilepsy.

The results of adjunctive lacosamide treatment in 18 pediatric patients with pharmacoresistant focal epilepsy are reported. All had severe forms of focal epilepsy with or without secondary generalization and were concurrently receiving one to three other antiepileptic drugs. Lacosamide was administered orally, and final dose, after slow titration, ranged between 1.7 and 10 mg/kg. Mean treatment duration was 8 months (range=3 weeks-17 months). Treatment efficacy was assessed at two time points with a 1-year interval. The reported greater than 50% reduction in seizure frequency was 36% in the initial short-term and 20% in the following long-term assessment. Side effects, mostly somnolence and irritability, were reported by 39% of patients in both evaluations. Our data suggest that lacosamide treatment in pediatric patients is safe at doses up to 10 mg/kg/day without any major side effects, but studies in larger series are needed to validate and extend these findings.

Reliability of Greek version Gross Motor Function Classification System.

The Gross Motor Function Classification System for Cerebral Palsy (GMFCS), a reliable and valid system, has been widely utilized for objective classification of the patterns of motor disability in children with cerebral palsy. The objective of this study was to produce a Greek version of the instrument, with the same construct as the original one and to investigate the reliability of application of the Greek version GMFCS. Translation and back translation was made by two of the authors, one of whom did not know the original English text. The final translation was fixed by consensus. Two physicians were trained and given practice in the use of the GMFCS and its application to clinical documentation. The raters classified children with cerebral palsy according to GMFCS - Greek version. The reliability was assessed with the weighted kappa statistic. The sample consisted of 47 boys and 47 girls, mean age 5.4 years. The overall weighted Kappa was 0.80 (95% CI=0.67-0.94). Weighted Kappa for level I was 0.91 (95% CI=0.74-1.09), for level II, 0.78 (95% CI=0.62-0.95), for level III, 0.85 (95% CI=0.68-1.02), for level IV, 0.85 (95% CI=0.67-1.03) and for level V, 0.84 (95% CI=0.66-1.03). The inter-rater reliability was lowest at level II. Percent agreement was 75%. Results of this study suggest that GMFCS - Greek version can be used reliably to classify patients with CP from clinical documentation. These results further support use of the GMFCS in clinical settings and for research. Investigation is needed to further assess the reliability and to determine the validity of the Greek version of the GMFCS.

Neurometabolic testing in developmental delay.

The goal of this study was to examine the usefulness of neurometabolic testing in patients with unexplained developmental delay. We included 118 patients from ages 3 months to 13 years. The evaluation was conducted according to a protocol that called for stepwise investigations with the intention to minimize unnecessary tests. Clinical and neuroradiologic abnormalities were used as guidelines for the type and extent of the neurometabolic work-up. Based on our results, a diagnosis for a neurometabolic disorder was established in 16 patients (13.6%). Findings regarding abnormal metabolites (amino acids, ammonia, lactate, pyruvate, urine organic acids) did not lead to a diagnosis but to further investigations. Abnormalities in lysosomal enzymes, very-long-chain fatty acids, and urine mucopolysaccharides were definitive in establishing a diagnosis. In conclusion, in children with slowly progressing development with no apparent cause, there is a need for guidelines regarding the type of patients who need to be tested and the kind and extent of neurometabolic diagnostic work-up.

Mild de Lange syndrome--does it exist?

A pair of mildly retarded, microcephalic twins (probably identical) are reported. They were initially diagnosed as having the de Lange syndrome on the basis of the synophrys, but, on follow-up, their main intellectual defect was in the area of expressive speech. It is suggested that the evidence in the literature for the existence of so-called mild de Lange is sparse and that the twins in this report might well have a different, possibly unique condition.