#Nocturnal epilepsy and sleepimg till 2pm series#
In the following years, a large series of patients were described. 9 All these observations led to the coining of the term “nocturnal frontal lobe epilepsy” (NFLE). 5, 6 Finally, Tinuper et al recorded three patients with short-lasting motor attacks (similar to those described as NPD), showing clear-cut epileptic interictal and ictal abnormalities. These data were successively confirmed by Wada et al, who demonstrated the epileptic nature and the frontal lobe origin of sleep-related seizures, similar to those classified as NPD. One of them became seizure-free after the surgical resection of the orbital region. 4– 9 In particular, Tharp 4 reported three children with seizures characterized by bizarre motor attacks recurring during wakefulness and resembling NPD episodes.
3 At the same time, studies conducted in drug-resistant epileptic patients submitted to a presurgical evaluation have permitted a better understanding of the anatomo-electroclinical features of these paroxysmal manifestations, suggesting their epileptic origin. 2 The term “hypnogenic paroxysmal dystonia” was used first, changed later to “nocturnal paroxysmal dystonia” (NPD). Authors strongly debated the epileptic or nonepileptic origin of these episodes that were finally considered as rare motor disorders of sleep because of the complex motor clinical pattern that occurs only during sleep and the absence of EEG epileptiform abnormalities. 1 Some years later, further patients with complex motor attacks recurring every night during slow-wave sleep were reported typically, the attacks consisted of twisting of the trunk and violent hyperkinetic movements of the limbs, and they were occasionally associated with tonic/dystonic posturing. On the basis of the EEGs’ abnormalities and the favorable response to therapy, authors interpreted these episodes as epileptic manifestations, despite the fact that EEG recordings of two abortive attacks failed to correlate with any paroxysmal or other abnormal electrical activity. Four of these patients demonstrated epileptiform abnormalities in their electroencephalograms (EEGs). The episodes ceased after phenytoin or carbamazepine treatment. In 1977, Pedley and Guilleminault described an unusual type of sleepwalking in six patients all experienced episodes characterized by screaming, vocalization, complex automatisms and ambulation. For selected drug-resistant SHE patients, epilepsy surgery is the only treatment offering high probability of recovery, both for seizures and for epilepsy-related sleep alterations. Finally, recent studies suggest a poor prognosis in a high percentage of SHE patients with a 20.4% cumulative probability of achieving terminal remission at 10 years from onset. SHE may also exert a negative effect on health-related quality of life, especially in domains pertaining to a patient’s role in the family, social context and patient’s illness experience.ĭespite a good response to pharmacological treatment, especially with carbamazepine, 30% of SHE patients suffer from drug-resistant seizures.
Intellectual disabilities and psychiatric disorders have also been reported in some genetic forms. Moreover, recent studies, adopting a systematic neuropsychological assessment, have shown deficits in memory, executive functions and visuo-spatial abilities in almost half of SHE patients. In fact, seizure frequency can be very high, resulting in nocturnal sleep fragmentation with possible diurnal consequences such as excessive sleepiness and fatigue. Although SHE and autosomal-dominant SHE (ADSHE) have been considered benign epileptic conditions for a long time, emerging data have shed light on the severity of this disorder and some peculiar features can impact negatively on the quality of life of SHE patients. SHE fulfills the definition of rare disease with an estimated minimum prevalence of 1.8/100,000 individuals, and it represents about 10% of drug-resistant surgical cases. Sleep-related hypermotor epilepsy (SHE), previously called nocturnal frontal lobe epilepsy (NFLE), is a focal epilepsy characterized by asymmetric tonic/dystonic posturing and/or complex hyperkinetic seizures occurring mostly during sleep.
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