X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome.

OBJECTIVE: We recently reported a Q555X mutation of synapsin 1 (SYN1) on chromosome Xp11-q21 in a family segregating partial epilepsy and autistic spectrum disorder. Herein, we provide a detailed description of the epileptic syndrome in the original family. METHODS: A total of 34 members from a large French-Canadian family were evaluated. Family members with seizures or epilepsy underwent (when possible) clinical, neuropsychological, electrophysiologic, and neuroimaging assessments. RESULTS: Epilepsy was diagnosed in 10 family members (4 deceased, 6 living). In addition to occasional spontaneous complex partial seizures, seven family members clearly had reflex seizures triggered by bathing or showering. Hippocampal atrophy was found in two of five epileptic family members family members who underwent magnetic resonance (MR) imaging. Video-electroencephalography (EEG) recordings of three triggered seizures in two affected members showed rhythmic theta activity over temporal head regions. Ictal single-photon emission computed tomography (SPECT) showed temporoinsular perfusion changes. Detailed neuropsychological assessments revealed that SYN1 Q555X male mutation carriers showed specific language impairment and mild autistic spectrum disorder. Female carriers also exhibited reading impairments and febrile seizures but no chronic epilepsy. SIGNIFICANCE: Available evidence suggests that impaired SYN1 function is associated with hyperexcitability of the temporoinsular network and disturbance of high mental functions such as language and social interaction. The presence of reflex bathing seizures, a most peculiar clinical feature, could be helpful in identifying other patients with this syndrome.

Prospective memory rehabilitation based on visual imagery techniques.

Despite the frequency of prospective memory (PM) problems in the traumatic brain injury (TBI) population, there are only a few rehabilitation programmes that have been specifically designed to address this issue, other than those using external compensatory strategies. In the present study, a PM rehabilitation programme based on visual imagery techniques expected to strengthen the cue-action association was developed. Ten moderate to severe chronic TBI patients learned to create a mental image representing the association between a prospective cue and an intended action within progressively more complex and naturalistic PM tasks. We hypothesised that compared to TBI patients (n = 20) who received a short session of education (control condition), TBI patients in the rehabilitation group would exhibit a greater improvement on the event-based than on the time-based condition of a PM ecological task. Results revealed however that this programme was similarly beneficial for both conditions. TBI patients in the rehabilitation group and their relatives also reported less everyday PM failures following the programme, which suggests generalisation. The PM improvement appears to be specific since results on cognitive control tasks remained similar. Therefore, visual imagery techniques appear to improve PM functioning by strengthening the memory trace of the intentions and inducing an automatic recall of the intentions.

Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy.

INTRODUCTION: A crucial issue in the genetic analysis of idiopathic generalized epilepsy (IGE) is deciding on the phenotypes that are likely to give the greatest power to detect predisposing variants. A complex inheritance pattern and unclear nature of the genotype-phenotype correlation makes this task difficult. In the absence of much definitive genetic information to clarify this correlation, we inferred the putative effects of predisposing genes by studying the clustering of various phenotypic features, both clinical and electrophysiological, within families. METHODS: We examined the distribution of clinical features among relatives of a proband in 70 French-Canadian families with a minimum of two affected individuals with a clear diagnosis of IGE and then, using concordance analysis, identified the relative genetic influences on IGE syndrome, seizure type, age-at-onset, and EEG features. RESULTS: The mean number of affected individuals with IGE per family was three. One-third of relatives had the same syndrome as the proband. 16-22.5% of relatives of a proband with one of the absence syndromes had juvenile myoclonic epilepsy (JME). Conversely, 27% of relatives of probands with JME had an absence syndrome. 15% of relatives displayed the exact constellation of seizure types as the proband. Concordance analysis demonstrated greater clustering within families of IGE syndrome, seizure type, and age-at-onset than would be expected by chance. Significant concordance was not evident for EEG features. DISCUSSION: There was a large degree of clinical heterogeneity present within families. However we found evidence for clustering of a number of clinical features. Further refinement of the phenotypes used in genetic studies of complex IGE is necessary for progress to be made.