Autism and behavior in adult patients with Dravet syndrome (DS).

Introduction: Autism and behavioral characteristics in adults with Dravet syndrome (DS) have rarely been systematically studied.

Method: Three scales were used to assess the outcomes of DS in adulthood in terms of autism and behavior. All the adult patients with DS, nine male and four female, aged between 18 and 60 years, living at the Epilepsy Center Kempenhaeghe in The Netherlands were included in the study.

Antiepileptic drugs with mood stabilizing properties and their relation with psychotropic drug use in institutionalized epilepsy patients with intellectual disability.

A large number of patients with epilepsy and intellectual disability take medication, amongst which antiepileptic and psychotropic drugs, often simultaneously. Certain antiepileptic drugs have mood-stabilizing properties, e.g.

Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.

In patients with guanidinoacetate methyltransferase (GAMT) deficiency several parameters may point towards the diagnosis of GAMT deficiency. These include the low levels of creatine and creatinine in urine, the high concentration of guanidinoacetic acid (GAA) in urine and the low levels of creatine and creatinine in the cerebrospinal fluid (CSF). In this study, body fluids from 10 GAMT deficient patients were analysed using (1)H NMR spectroscopy.

Neuropsychiatric aspects of patients with hypothalamic hamartomas.

Hypothalamic hamartomas (HH) are developmental malformations that are associated with gelastic seizures, other types of seizures, cognitive decline, and symptoms related to hypothalamic dysfunction. Although aggressive behavior is frequently described, data on the neuropsychiatric profile are limited. In this article, five patients with HH are described who displayed a wide variety of psychiatric symptoms that, dependent on the time frame, met the criteria for several categorical diagnoses.

Cervical spinal cord injuries in patients with refractory epilepsy.

The incidence of cervical spinal cord injuries (c-SCI) in patients with refractory epilepsy is 30-40 times higher than in the normal population. The injuries occur after seizure-related falls. Risk factors and pitfalls in diagnosis are discussed.