Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present a study of 28-year-old Japanese monozygotic female twins with Rett syndrome (RS). To our knowledge, this is the first report of monozygotic twins with RS from Japanese family. There are some differences between twins about seizures, scoliosis and stereotypical hand movements during adolescence. Monozygosity was confirmed by both blood typing and HLA titers.
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PMID:Japanese monozygotic twins with Rett syndrome. 944 Aug 4

The mortality rate in Rett syndrome is 1.2% per annum, 48% of deaths occurring in debilitated people, 13% from natural causes, 13% with prior severe seizures and 26% sudden and unexpected. Respiratory dysrhythmias were usually present. Neuropathology confirmed reductions in cortical dendrites and in one case immaturity of cardiac conducting tissues.
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PMID:Rett syndrome: analysis of deaths in the British survey. 945 25

Experience over the past 10 years in the diagnosis and comprehensive management of females with Rett syndrome has given us a better understanding of the potential skills and abilities which need to be identified. This condition is unique in that after a period of early regression of development there appears to be stabilization with some improvement. The potential for these girls to achieve some functional skills and maintain them presents a challenge, but one that needs to be addressed. Medical management should include stabilization of uncontrolled seizures. Developing a comprehensive plan for feeding disorders is required so that resulting nutritional problems and constipation can be corrected. Recognition of gastroesophageal reflux and its proper management may prevent respiratory complications. Appropriate intervention strategies using different therapeutic techniques are described which have been effective in facilitating communication, maintaining hand function and ambulation, and preventing deformities. Progression of scoliosis can be managed with intensive physical therapy. Management encompasses a comprehensive medical, therapeutic, educational, and psychosocial approach, which is best provided by a team in collaboration with community agencies that serve children with special needs and their families.
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PMID:Rett syndrome: habilitation and management reviewed. 945 32

Rett syndrome (RS) is one of the most frequent causes of mental retardation in females. As there are no known biochemical, genetic, or morphological markers, diagnosis is based on clinical phenotype including severe dementia, autism, truncal ataxia/apraxia, loss of purposeful hand movements, breathing abnormalities, stereotypies, seizures, and extrapyramidal signs. Myoclonus, although reported in some series, has never been characterized. We studied 10 RS patients, age 3 to 20 years, and observed myoclonus in 9. Severity of myoclonus did not correlate with that of the other symptoms or with age. Multifocal, arrhythmic, and asynchronous jerks mainly involved distal limbs. Electromyographic bursts lasted 48 +/- 12 msec. Burst-locked electroencephalographic averaging generated a contralateral centroparietal premyoclonus transient preceding the burst by 34 +/- 7.2 msec. Motor evoked potentials showed normal latencies, indicating integrity of the corticospinal pathway. Somatosensory evoked potentials were enlarged. The C-reflex was hyperexcitable and markedly prolonged (62 +/- 4.3 msec), mainly due to increase in cortical relay time (28.4 +/- 4.5 msec). We conclude that RS patients show a distinctive pattern of cortical reflex myoclonus with prolonged intracortical delay of the long-loop reflex.
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PMID:Cortical reflex myoclonus in Rett syndrome. 954 28

The electroencephalogram (EEG) plays an important role in the evaluation of a child with developmental delay. An EEG is often required to classify seizures in children with developmental delay. Equally important is the role of the EEG in the identification of specific electroclinical syndromes in children who may or may not manifest seizures. Specific electroclinical syndromes include the acquired epileptiform aphasia syndrome, Landau-Kleffner syndrome, and electrical status epilepticus during slow wave sleep. Other clinical situations where the EEG offers diagnostic and prognostic information, such as subacute sclerosing encephalitis, progressive myoclonus epilepsies, Rett syndrome, and Lennox Gastaut syndrome are also discussed.
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PMID:Electroencephalogram in developmental delay: specific electroclinical syndromes. 954 41

This open pilot study was performed to evaluate the effect of Lamotrigine (LTG) in girls with Rett syndrome (RS) regarding seizure frequency, effect on gross motor dyspraxia and safety. Twelve girls with either the classical form of RS or the milder form fruste variants were included. The effect on epilepsy was evaluated as seizure frequency, motor performance (video comparison) and safety at clinical check up. The dosage of LTG was individualized and related to concomitant anti-epileptic drugs. Two of three girls with epilepsy responded relatively well to treatment, and for one of them even bad tantrums disappeared. LTG was useful in another four girls who became happier, more alert, more able to concentrate, and improved in contacting. Only mild adverse reactions as rash and tremor were seen. It is concluded that LTG could be worth trying as an adjunct in girls with RS, being aware of possible adverse reactions and no effect at all.
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PMID:Lamotrigine in Rett syndrome: treatment experience from a pilot study. 956 14

Epileptic seizures are reported to occur frequently in Rett syndrome (RS). We evaluated the hypothesis that many events classified as seizures in RS represent other paroxysmal, non-epileptic events; thus, the overall incidence of seizures in RS is overestimated. We conducted video/polygraphic/EEG monitoring sessions (8-120 h duration) in 82 RS females (ages 2-30 years). Fifty-five patients (67%) had a history of seizures and 43 (52%) were receiving anticonvulsants. All had abnormal EEGs. These abnormalities included epileptiform findings, the frequency of which ranged from 60% of patients in clinical stage IV to 97% of patients in clinical stage III. During monitoring, electrographic seizures were recorded in only 13 patients (16%) and included both partial and generalized events. Clinical events correlating with EEG seizure discharges were identified by parents during only 5 of these recordings. The parents of 23 (42%) of the 55 patients with a history of seizures identified events during monitoring that they felt were representative of the child's typical 'seizures', but which were not associated with EEG seizure discharges. These 'non-seizure' events included episodes of motor activity, such as twitching, jerking, head turning, falling forward, and trembling, as well as episodes of staring, laughing, pupil dilatation, breath holding and hyperventilation. These studies confirm that the occurrence of epileptic seizures is overestimated in RS, and further suggest that actual seizures may be under-recognized. Video/EEG monitoring can provide definitive information regarding the need for anticonvulsant therapy in RS.
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PMID:Rett syndrome: characterization of seizures versus non-seizures. 968 Jan 67

Formerly thought to be a neurodegenerative disease, Rett syndrome (RS) is a neurodevelopmental arrest of the brain that almost exclusively affects females and occurs in a variety of racial and ethnic groups worldwide. RS begins in late infancy and is characterized by autistic and dementia-like behavior, ataxia, and purposeless hand movements. Its cause and mode of transmission are unknown in over 90% of cases; however, there is strong and convincing evidence that genetic factors play a major role. The reported incidence varies, but in the US, as many as one quarter to one third of female children in mental wards/institutions may be affected. RS has been mistaken for numerous other conditions, including autism, cerebral palsy, and mental retardation, but the clinical picture is unique: No other condition has a period of rapid deterioration followed by apparent stabilization or even improvement in autistic features, eye contact, seizure activity, and hand stereotypies. The diagnosis is supported by deceleration of head growth, evidence of neurologic regression with associated neurologic signs, and purposeless hand stereotypies, with a clinical history of developmental regression. The differential diagnosis often involves ruling out syndromes with similar signs of neurodevelopmental arrest--for example, meningitis or encephalitis; chromosomal disorders such as Angelman's syndrome and Prader-Willi syndrome; metabolic disorders such as ornithine carbamoyltransferase deficiency; disorders of organic acids and amino acids; neurovisceral storage diseases; mitochondrial cytopathy; and Batten disease, or infantile neuronal ceroid lipofuscinosis. Management encompasses a comprehensive medical, therapeutic, educational, and psychosocial approach, best provided through a team in collaboration with the community agencies that serve families and children with special needs.
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PMID:Understanding, Recognizing, and Treating Rett Syndrome. 974 85

To determine whether a disorder of excitatory neurotransmission plays a role in the pathophysiology of Rett syndrome (RS), N-methyl-D-aspartate (NMDA), adenosine monophosphate acid (AMPA), kainate, and metabotropic types of glutamate receptors were labeled autoradiographically in the superior frontal gyrus (SFG) from 9 RS patients and 10 female controls. The results showed a trend for the densities of NMDA, AMPA, gamma-aminobutyric acid, and metabotropic glutamate receptors to be higher in younger patients than in controls and for densities in older patients to fall below those of controls. The age-related changes in SFG NMDA receptor density may be correlated with the shift from psychomotor regression and seizures in younger stage II/III RS girls to the less epileptic plateau stage in older girls.
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PMID:Development of amino acid receptors in frontal cortex from girls with Rett syndrome. 1021 84

Rett syndrome is a neurodevelopmental disorder of unknown cause which affects girls almost exclusively. Apparently normal development in the first year of life is usually followed by loss of skills and the development of stereotypic hand movements. This study has used genetic epidemiological methods including a case control design to examine the evidence for aggregation of other disorders in families of girls with Rett syndrome. In one family there were two sisters with a condition consistent with Rett syndrome. Intellectual disability was not reported more commonly in case families (P = 0.46). However, "learning problems" were slightly commoner (P = 0.05) especially in the parental generation (P = 0.02) and these findings warrant further investigation. Mental illness and seizures were not reported at an increased prevalence. However, we would recommend the use of other strategies to collect information about psychiatric illness. Spinal curvature was reported more commonly in case families (P = 0.07) but no mechanism for clinical verification of this was included in the study. There was an apparent increase in bowel problems in the parents (P = 0.04). The major weaknesses of our study were our inability to validate any diagnosis clinically and the lack of power (due to the comparative rarity of the outcomes). The strengths are that we have been able to collect pedigree data on the families of a substantial proportion of a total population of girls with Rett syndrome and to collect comparative data from a control population. Our reported findings warrant further investigation in a larger study.
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PMID:Familial aggregation in Rett syndrome: what is the evidence for clustering of other disorders in families of affected girls? 1021 46


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