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

We report two brothers with previously unexplained mental retardation and seizures who had dysmorphic facial features, macro-orchidism, and a fragile site at the X chromosome. This recently described syndrome is the second most common chromosome aberration associated with mental retardation after Down's syndrome. In order to determine the prevalence of seizures and the frequency of specific neurological features, we studied a total of 17 patients with the fragile X syndrome. 41% had grand mal seizures; 41% had extensor plantar responses; 47% had hyperactive behaviour and 65% exhibited stereotypics; 59% had incoordination and 35% had blepharospasm. We emphasise the need for chromosome analysis of patients with unexplained mental retardation, specific phenotypic abnormalities, and large testes.
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PMID:Neurological findings in patients with the fragile-X syndrome. 392 Mar 55

Ninety-eight consecutive patients with clinically suspected congenital heart disease were prospectively studied with electroencephalographic (EEG) recordings before cardiac catheterization. Twenty-five patients had abnormal EEGs. Fifty-five patients had acyanotic heart disease and normal neurologic examination results, of whom 15 had abnormal EEGs. Thirteen had spikes or spike and wave discharges and two had mildly abnormal EEGs. Twenty-seven patients had cyanotic heart disease and normal neurologic examination results, of whom four had abnormal EEGs. Seven patients (8%) had abnormal neurologic examination results, of whom four had abnormal EEGs. There was a higher incidence of seizures with increasing age. Based on their medical history two children with acyanotic heart disease had had seizures without EEG abnormalities. Five children with normal catheterization findings and four children with Down's syndrome (two with abnormal EEGs) were excluded from the total of 98. These findings suggest that subclinical nervous system involvement may occur in congenital heart disease.
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PMID:Electroencephalographic abnormalities in children with congenital heart disease. 402 15

Clinical manifestations of dementia were reviewed in 15 Down's syndrome (DS) patients referred to a neurological clinic over a 24-month period for mental deterioration. The ages ranged from 32-64 years. One hundred percent showed personality changes and loss of independent daily living skills, the presenting symptoms in two-thirds of the cases. Other manifestations included seizures (53%), gait deterioration (73%), sphincteric incontinence (40%), and pathological release reflexes (67%). All 7 patients with CT-scans showed moderate or severe central and peripheral cortical atrophy. Detailed clinical information is presented for two patients, one of whom showed a temporary remission with imipramine. A characteristic dementia syndrome appears to be present in a subpopulation of aging DA patients with radiographic findings of Alzheimer's disease.
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PMID:Dementia in Down's syndrome: observations from a neurology clinic. 621 49

This is a pathological analysis of a 50-year-old severely mentally retarded female with trisomy 21 who five years prior to her demise developed progressive dementia, epileptic seizures and choreiform movements. The necropsy revealed gross and microscopic features of Alzheimer's and Pick's disease. Ultrastructurally the majority of neurofibrillary changes and all studied Pick bodies consisted of 15 nm straight tubules. A few neurofibrillary changes were composed of 22 nm paired helical filaments, which were also found in the enlarged neurites of neuritic plaques. A few paired helical filaments were interspersed between straight tubules of Pick bodies. These findings in a patient with Down's syndrome and previous reports of atypical features of Alzheimer's disease indicate that very probably our case is a variant of Alzheimer's disease, thus broadening the spectrum of pathological changes observed in Alzheimer's disease.
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PMID:Morphological features of Pick's and atypical Alzheimer's disease in Down's syndrome. 629 25

This report concerns 844 children with Down syndrome under 15 years of age. Of the 844 cases with Down syndrome, 1.4% have epilepsy at the present time. The types of seizures are as follows; infantile spasms in 4 cases (30.8%), generalized tonic-clonic convulsions in 6 (46.1%), Lennox-Gastaut syndrome in 1 (7.7%) and psychomotor seizure in 2 (15.4%). The onset of seizure was high in the first two years (73.7%). The occurrence of epilepsy in Down syndrome in childhood did not differ from that in the general population, but infantile spasms were prevalent in Down syndrome.
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PMID:Epilepsy in childhood Down syndrome. 632 19

A woman with Down syndrome--a trisomy 21 karyotype--developed severe startle epilepsy and spontaneous seizures at the age of 20 years. Triggering factors, seizure patterns, and ictal electroencephalograms were the same as in startle epilepsy occurring in children with cerebral palsy but differed in that there was no clinical or radiological evidence of a focal brain lesion in the vicinity of the motor supplementary cortex. A therapeutic trial with clonazepam substantially reduced the frequency of reflex-induced and spontaneous seizures.
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PMID:Startle epilepsy complicating Down syndrome during adulthood. 644 92

Twelve patients with perinatal anoxic encephalopathy, 1 with encephalitis, and 1 with Down's syndrome had startle epilepsy. Hemiparesis, startle-induced seizures involving the hemiparetic side, focal electroencephalographic abnormalities, and unilateral lesions evident on computed tomographic scan were found in 6 patients, all of whom responded favorably to carbamazepine. The remaining 8 patients had severe intellectual impairment, bilateral motor deficits, generalized startle-induced seizures, diffuse and lasting electroencephalographic abnormalities, and widespread cerebral lesions evident on computed tomographic scan. Of these, 2 patients with Lennox-Gastaut syndrome responded to clonazepam, 4 others responded to valproic acid, and 2 others, with predominantly focal hemispheric lesions, improved on a regimen of carbamazepine.
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PMID:Startle epilepsy: a clinical study. 646 64

A prospective study looking at the prevalence of epilepsy in 246 children with autistic spectrum disorder revealed that 7.6% of children satisfying the criteria of infantile autism and 5% of those with an autistic condition had epilepsy. The majority had onset of seizures before the age of 1 year. Boys predominated in both groups. There was no correlation between the age of onset of seizures, type of seizure, sex, mentality, and the outcome of epilepsy. There is an increased risk of epilepsy in autistic children compared to those with developmental dysphasia or Down syndrome. There might be some underlying defect of the brain in autistic children that causes different degrees of autistic manifestation with which epilepsy is associated, as part of the spectrum complex.
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PMID:Epilepsy in children with autistic spectrum disorder. 769 96

A total of 201 adults with Down syndrome were investigated, of whom 32 (15.9%) had epilepsy. A bimodal age distribution for seizure onset in childhood and later in middle-age was found. Good seizure control was associated with early onset epilepsy. Down syndrome adults with epilepsy scored significantly higher overall on the adaptive behaviour profile but did not have significantly greater maladaptive behaviours.
Seizure 1995 Mar
PMID:Epilepsy and associated effects on adaptive behaviour in adults with Down syndrome. 778 9

There is usually a causal relationship between epilepsy and mental retardation when they coexist. The pathogenetic period of the underlying brain disorder and the time of seizure onset may, however, be widely separated. In 63 institutionalized mentally retarded epilepsy patients, 41% had seizure onset prior to the age of 2, 30% between the age of 2 and 20, and as many as 29% after the age of 20. Whereas uncontrolled epilepsy and cerebral palsy were frequently present in the group of early onset, most patients with adult onset had well controlled epilepsy, and none had cerebral palsy. Five of the 18 patients with adult onset epilepsy had Down's syndrome; in three of them, concomitant dementia was evident. In most patients with adult onset, however, no recent or current etiological factors for seizures were evident, except for their stable intellectual deficits. The incidence of adult onset epilepsy in the institution in 10 years markedly exceeded the expected rate. Twenty-three patients had achieved a prolonged remission of seizures and discontinued antiepileptic treatment. Sixty per cent of them remained seizure-free after at least two years. The mentally retarded should not unduly be subjected to drugs with potential central nervous side-effects.
Seizure 1994 Dec
PMID:The diversity of epilepsy in adults with severe developmental disabilities: age at seizure onset and other prognostic factors. 789 38


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