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Biomedical subjects

Alain Autret

Publications and source records attributed to Alain Autret.

6 recordsLinked to original sources

Atypical language impairment in two siblings: relationship with electrical status epilepticus during slow wave sleep.

We report the case of a young girl who presented severe learning disabilities in oral and written language related to a continuous spike-waves during slow sleep (CSWS) syndrome. A sleep EEG recording obtained in her younger brother, who presented a clinical pattern suggesting developmental dysphasia, also showed a CSWS syndrome. These two clinical cases underscore the need to look for this syndrome in the siblings of an affected child when learning difficulties appear in a child who previously had normal psychomotor development.

Child↗

Night terrors associated with thalamic lesion.

OBJECTIVE: To describe a case with night terrors (NT) symptomatic of a thalamic lesion. METHODS: Videopolysomnography and brain MRI were used to study a 48 year old woman with a recent onset of brief episodes, occurring exclusively during nocturnal sleep, where she suddenly sat up in bed, screamed and appeared to be very frightened. RESULTS: Videopolysomnography recorded an episode suggestive of NT. Sleep fragmentation with frequent brief arousals or microarousals was also evident mainly during slow wave sleep. The brain MRI showed increased T2 signal from the right thalamus suggestive of a low-grade tumor. CONCLUSIONS: Our case suggests that NT starting in adulthood can, rarely, be symptomatic of neurological disease, and warrant further investigation with MRI. SIGNIFICANCE: A thalamic dysfunction, disrupting at this level the arousal system, may play a role in provoking NT.

Arousal↗

Outcome at adulthood of the continuous spike-waves during slow sleep and Landau-Kleffner syndromes.

PURPOSE: The aim of this study was to determine the clinical, social, and/or professional and cognitive outcomes in adulthood of the continuous spike-waves during slow sleep (CSWS) and Landau-Kleffner syndromes, which are two rare epileptic syndromes occurring in children. METHODS: We enrolled seven young adults, five who had a CSWS syndrome, and two, a Landau-Kleffner syndrome in childhood. We evaluated their intellectual level as well as their oral and written language and executive functions. RESULTS: This study confirmed that the epilepsy associated with these syndromes has a good prognosis. Only one patient still had active epilepsy. However, the neuropsychological disorders particular to each syndrome persisted. Only two patients had followed a normal pathway in school. Three of the five patients with a CSWS syndrome during childhood remained globally and nonselectively mentally deficient. We found no evidence of the persistence of a dysexecutive syndrome in this study group. The intellectual functions of the two patients with Landau-Kleffner syndrome were normal; however, their everyday lives were disrupted by severe, disabling language disturbances. We discuss the role of some prognostic factors such as the location of the interictal electric focus and the age at onset of CSWS. CONCLUSIONS: These two epileptic syndromes of childhood are very similar in many respects, but their clinical outcomes in adulthood are different.

Adolescent↗

Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis.

The etiology of amyotrophic lateral sclerosis remains unknown in the majority of cases. Homozygous SMN1 (survival motor neuron) gene deletion causes spinal muscular atrophy, and SMN2 gene deletions are possible risk factors in lower motor neuron disease. We studied SMN1 and SMN2 genes copy numbers in 167 amyotrophic lateral sclerosis patients and in 167 matched controls. We noted that 16% of amyotrophic lateral sclerosis patients had an abnormal copy number of the SMN1 gene (1 or 3 copies), compared with 4% of controls. An abnormal SMN1 gene locus may be a susceptibility factor for amyotrophic lateral sclerosis.

Amyotrophic Lateral Sclerosis↗

Ictal bradycardia followed by cardiac asystole: a case report.

We report on a patient with a 30-year history of left temporal lobe epilepsy who presented with ictal bradycardia followed by cardiac asystole. The EEG during the ictal period was documented and analyzed. Clinical features and therapeutic considerations are discussed.

Bradycardia↗