A New Family of Autosomal Dominant Rolandic Epilepsy with Speech Dyspraxia: Neuropsychological and Genetic Approach.
Abstract number :
1.055
Submission category :
Year :
2001
Submission ID :
209
Source :
www.aesnet.org
Presentation date :
12/1/2001 12:00:00 AM
Published date :
Dec 1, 2001, 06:00 AM
Authors :
G. Rudolf, PhD, Clinique Neurologique, Inserm U398, Strasbourg, France; P. Szepetowski, MD, PhD, Hopital des Enfants de la Timone, Inserm U491, Marseille, France; R. Carcangiu, MD, Clinique Neurologique, Hopitaux Universitaires, Strasbourg, France; M.P. V
RATIONALE: Autosomal dominant rolandic epilepsy with speech dyspraxia is a rare syndrome that may highlight the relationship between focal idiopathic epilepsy and speech disorders. This syndrom associates nocturnal oro-facio-brachial seizures and centro-temporal epileptiform discharges with oral and speech dyspraxia and cognitive impairment (Scheffer et al. 1995). We describe a family of 10 affected and 4 non-affected individuals in three generations.
METHODS: Five out of 10 affected members underwent clinical assessement, EEG-video recordings including sleep studies and neuropsychological investigations especially language and cognitive testing. A genome-wide search for linkage of this pedigree will be initiated.
RESULTS: All affected subjects reported an history of childhood epilepsy, the two youngest still had partial oro-motor seizures. While no more EEG abnomalities were found in the eldest subjects, video-EEG in the youngest one showed asynchrone biphasic spikes predominant over the centro-temporal regions increased by sleep. The five subjects who performed neuropsychological testing showed a mental delay with significantly lower verbal performances. The youngest individuals showed at least one-year discrepancy between verbal and non-verbal performances. The elder showed verbal/non-verbal discrepancy of about 25 on the Wechsler intellignece scale related to their age(WISC-III and WAIS). The main verbal deficits involved speech articulation and auditory verbal memory span. Preliminary genetic investigations (statistical simulation studies) showed that this family is informative.
CONCLUSIONS: Molecular studies on this syndrom with autosomal dominant form of transmission could be relevant to identify genes for benign idiopathic epilepsy as well as for severe speech and language disorder.