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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In four cases of the Rett syndrome (RS) (age 3 1/2, 6, 11 and 12 years), paroxysmal activity and especially spike discharges over the central region could be blocked or attenuated by passive finger movements. This response, however, is not demonstrable in the majority of children with RS. The blocking or attenuating effect of passive movements is compared with earlier observations of central spike discharges occurring in children with benign Rolandic epilepsy. In some of these children, central spikes could be blocked by active hand movements. It was assumed that such a positive blocking response underscores the "functional" ("dysfunctional") character of the Rolandic spikes and the lack of local structural damage. In children with cerebral palsy, seizures and central spike (and evidence of structural brain damage), such a blocking response was not obtainable. Taking into consideration these earlier observations, there is reason to presume that the central spike activity found in RS is based on dysfunction rather than on structural impairment.
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PMID:Further EEG observations in children with the Rett syndrome. 234 27

Day time video records of 14 girls with the Rett syndrome (RS) (6-17, mean 7 years) were analysed to correlate episodic abnormalities in respiration, movement and electroencephalograms (EEG). Records were compared with those of 12 healthy girls (6-18, median 14 years) who hyperventilated voluntarily. Three RS girls (6-7 years) had minimal respiratory dysrhythmia and showed no correlation between EEG respiration and movement. The other 11 RS girls (6-17 years) had severe awake respiratory dysrhythmia; 10 showing hyperventilation (with hypocapnia) which alternated with active expiratory apnoeic pauses and one with the latter only. All had periods of awake regular breathing with normal respiratory gases. In these girls EEG showed non-epileptic generalised slow activity some of which was paroxysmal. In the six youngest (6-10 years) of these 11 RS girls, non-epileptic paroxysms of EEG slow activity at 1 1/2-4 Hz occurred and were associated with periods of normal breathing and normal pCO2 levels whether girls were alert, drowsy or asleep, but were uncommon during episodes of hyperventilation (and hypocapnia). In four of these girls the EEG paroxysms occupied less than or equal to 1-3% of the time during periods of respiratory dysrhythmia (81 minutes) and 8-100% of the time during alert periods with normal breathing (29 minutes), p less than or equal to 0.001 for this difference. Short bursts of EEG slowing occasionally followed prolonged apnoeic pauses. In two cases brief partial complex seizures occurred. In five of these girls stereotypic movements exacerbated during episodes of respiratory dysrhythmia and reduced during normal breathing.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Correlation of electroencephalogram, respiration and movement in the Rett syndrome. 234 29

The Rett syndrome is a progressive disorder in female patients that is characterized by autistic behavior, dementia, ataxia, loss of purposeful use of the hands, and seizures. The results of laboratory investigations are usually normal, with the exception of electroencephalography. In an attempt to understand the pathogenesis of this syndrome, we assayed biogenic amine metabolites in the cerebrospinal fluid of six patients, 2 to 15 years of age. 3-Methoxy-4-hydroxyphenylethylene glycol (MHPG, a metabolite of norepinephrine), homovanillic acid (a metabolite of dopamine), and 5-hydroxyindoleacetic acid (5-HIAA, a metabolite of serotonin) were quantitated by a method involving gas chromatography and mass spectrometry. Levels of MHPG and homovanillic acid were significantly reduced in all the patients as compared with those in controls of similar age (P = 0.01 and 0.008, respectively). The reduction in the level of 5-HIAA was not significantly different from that in the controls (P = 0.15). These findings suggest an underlying disorder of biogenic amines in the Rett syndrome and may provide new insight into its pathogenesis.
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PMID:Reduction of biogenic amine levels in the Rett syndrome. 241 19

Rett syndrome is a progressive neurologic condition, affecting only girls and characterized by acquired microcephaly, dementia, seizures, autistic behavior, spontaneous hyperventilation, spasticity, hyperreflexia and a peculiar characteristic stereotypic movement disorder. A review of 35 EEGs (obtained over 0-8.5 years of follow-up) in 9 such patients revealed a striking age-related change in the electroencephalographic pattern. Often initially normal, the EEG shows a variety of epileptiform abnormalities but intact background activity between 3 and 5 years. Between 5 and 10 years of age, the background activity exhibits some slowing, epileptiform abnormalities persist and paroxysmal high-amplitude theta activity occurs over extended periods, related to spontaneous hyperventilation. After 10 years, there is a general reduction in the epileptiform activity but further slowing of the background rhythms is usually observed. As all other laboratory tests are mostly normal in Rett syndrome, EEG promises to be a powerful tool in confirming the diagnosis in a compatible setting, in follow-up of these patients, and in objective evaluation of any future therapeutic interventional modalities in this serious and common condition.
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PMID:Electroencephalographic findings in Rett syndrome. 242 89

Diagnostic criteria for Rett syndrome (RS) were developed by representatives of the International Rett Syndrome Association and the Centers for Disease Control for use in future clinical and epidemiological studies. Necessary criteria are: normal prenatal and perinatal period; normal psychomotor development through the first 6 months of life; normal head circumference at birth, with subsequent deceleration of head growth; loss of purposeful hand skills; severely impaired expressive and receptive language; apparent severe mental retardation; and gait apraxia and truncal apraxia/ataxia. Supportive criteria include breathing dysfunction, seizures, spasticity, scoliosis, and growth retardation. The diagnosis of RS is considered tentative until 2 to 5 years of age. The differential diagnosis includes other disorders associated with mental retardation, cerebral palsy, and seizure disorders. These diagnostic criteria for RS should foster reliable communication among investigators and enhance the epidemiological and clinical research of this important disorder.
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PMID:Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group. 245 7

The Rett syndrome is a postnatal developmental and neurological disorder seen only in girls. Many of the symptoms of this disorder, such as microcephaly, stereotypy, respiratory disturbances and seizures, are analogous to the effects of the administration of beta-endorphin or other opioids in animals. Preliminary reports of elevated beta-endorphin-like immunoreactivity in the cerebrospinal fluid of girls with the Rett syndrome, as well as improvement in some of their symptoms during the administration of the opioid antagonist naltrexone, are suggestive of endorphinergic hyperactivity. Thus, the pathophysiology of the Rett syndrome might involve excessive stimulation of opioid receptors in the central nervous system by beta-endorphin or other endogenous opioids.
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PMID:Possible hyperendorphinergic pathophysiology of the Rett syndrome. 247 33

EEG studies have been carried out on 52 girls with Rett syndrome, the majority of records being taken between two and 7 years of age. Discharges were a common feature, occurring in 43 patients, and did not appear to be related to the onset of seizures. The discharges, consisting of sharp waves or spikes, were characteristically most prominent around the middle third of the head, often occurring asymmetrically and could be infrequent or almost continuous. They were usually enhanced by light sleep and were seen only during sleep in 15 EEGs taken in 13 patients, most of whom were under four years of age. These EEG features when present may help confirm the diagnosis of Rett syndrome in the appropriate clinical setting and in particular are quite distinct from the usual EEG patterns seen in Angelman (Happy Puppet) syndrome.
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PMID:Rett syndrome: an EEG study in 52 girls. 260 63

The long-term electroencephalographical observations were documented during the course of the Rett syndrome in 8 patients. The abnormal EEG findings changed with age and the clinical stage. In the premonitory stage (birth-1.5 years of age), EEG seemed to be normal. In the acute exacerbation stage (1.5-5 years old), occipital dominant alpha wave-like activity was characteristic and persisted for a few years, but it disappeared afterwards along with the seizure activity. At around 4 years of age, when the whole spectrum of symptoms manifested, the EEG background activity in the waking stage showed higher amplitude, lower frequency and more irregular than normal. Sleep spindles were hardly observed, while frequent seizure activity was found on sleep EEG. Before the onset of epileptic attacks, paroxysmal discharges, such as diffuse spike-and-wave complexes, were noted during sleep recordings. In the chronic stage (after age 6), a monotonous theta rhythm (MTR), which was not influenced by either opening or closing of the eyes but attenuated only by a big noise or strong pain stimuli, characteristically dominated the waking tracing. The MTR was generalized over both hemispheres. After age 20, the MTR tended to be more localized to the centro-parietal area. This suggests that a reduction in responsiveness to visual and other stimuli occurs in this disease, which may be attributable to a dysfunction of the reticular activating system in the brainstem.
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PMID:Longitudinal observation of electroencephalograms in the Rett syndrome. 261 64

Rett syndrome is a recently discovered, progressive neurological disorder that occurs exclusively in females early in life. Females with this rare and often misdiagnosed clinical entity have unusual but distinctive oral/digital habits. Dentists aware of Rett syndrome and its distinct manifestations will be able to aid in early diagnosis and treatment of those afflicted. A case report of a 4-year, 3-month-old white female with Rett syndrome and review of pertinent literature are presented. The previously reported oral/digital habits and oral manifestations of Rett syndrome are listed along with other unreported oral findings. Many of these oral manifestations are not unique to Rett syndrome. There is a likelihood that they may be related to trauma secondary to the excessive oral/digital habits, poor gait, and seizure activity.
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PMID:Rett syndrome--a rare and often misdiagnosed syndrome: case report. 266 2

Rett syndrome is an increasingly recognized progressive disorder in females, commencing in infancy and characterized by autistic behavior, gait ataxia, stereotyped movements, seizures and generalized growth and mental retardation, possibly associated with disorders of central biogenic amine synthesis. The gene locus and pathogenesis of Rett syndrome are unknown. Autopsy studies in nine girls dying between 4 and 17 years, and sural nerve and muscle biopsies from two girls aged 3 and 17 years showed: (1) diffuse cortical atrophy/micrencephaly, with a decrease in brain weight by 12% to 34% of age-matched controls, apparently related to the duration of the disorder; (2) mild diffuse cortical atrophy with increased amounts of neuronal lipofuscin and occasional mild gliosis, but without signs of a storage disorder; (3) underpigmentation of the zona compacta nigrae, which showed fewer well-pigmented neurons for age and fewer melanin granules per neuron, while total numbers of nigral neurons and the substructure of neuromelanin were normal for age. No pathological changes were seen in other transmitter-specific brain stem nuclei; (4) immunoreactivity for tyrosine hydroxylase was slightly reduced in nigral and hypothalamic neurons, and the pituitary gland showed decreased immunoreaction for prolactin and growth hormone; (5) ultrastructurally, in frontal cortex and caudate nucleus, isolated abnormal neurites and reactive or degenerative axonal swellings were seen; the latter are possibly related to the nigral changes, suggesting some dysfunction of the dopaminergic nigrostriatal system, which is supported by neurochemical data; (6) preliminary biochemical studies revealed increased beta-endorphines in thalamus and cerebellum; (7) peripheral nerves demonstrated increase in small fibers without demyelination and increased numbers of neurofilaments in axons, suggesting distal axonopathy, while skeletal muscle showed alterations in the sarcoplasmic reticulum with circular profiles in the Z-filaments. These nonspecific changes may be interpreted as early signs of denervation. The variety of lesions in the central, neuroendocrine and peripheral neuromuscular systems in Rett syndrome are discussed with regard to their clinical and biochemical significance.
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PMID:Neuropathology of Rett syndrome. 290 May 87


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