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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fred Samson's career began in osteopathy and show business. After service as a medic during World War II, he earned a doctoral degree in physiology at the University of Chicago and joined the faculty of the University of Kansas in Lawrence in 1952. There he conducted pioneering research on cerebral energy metabolism and axoplasmic transport while inspiring a generation of students in the classroom and lab. During the mid 1960s, he began a fruitful and lasting collaboration with the Neurosciences Research Program and its founder, Francis O. Schmitt. In 1973 he became director of the Ralph Smith Mental Retardation Research Center in Kansas City, where he added metabolic mapping of the brain in relation to seizure activity and drug toxicity to his research accomplishments. He retired in 1989, still pursuing new problems and continuing to inspire colleagues with his enthusiasm for neurochemistry and the joy of science.
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PMID:Acrobat to academic: a sketch of the life and career of Frederick E. Samson, Jr. 153 25

We have previously described a family with a neurological syndrome comprising neurogenic muscle weakness, ataxia, retinitis pigmentosa, and variable sensory neuropathy, seizures, and mental retardation or dementia. This is associated with a heteroplasmic point mutation of mtDNA at bp 8993. The mother of a severely affected child underwent prenatal diagnosis in two further pregnancies. Analysis of chorionic villus samples showed a higher proportion of mutant mtDNA on both occasions, and this was reflected in the majority of fetal tissues, including brain and muscle. Prenatal diagnosis is a rational approach to the prevention of severe diseases caused by point mutations of mtDNA but is currently hampered by incomplete knowledge concerning the proportion of mutant mtDNA: its relationship to disease severity, how it may change during fetal and postnatal development, and its tissue distribution.
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PMID:Prenatal diagnosis of mitochondrial DNA8993 T----G disease. 153 98

Epidermal nevus syndrome is one of the sporadic congenital hamartoses in which neurologic abnormalities have been frequently reported. We report two cases with severe primary brain involvement, seizures, mental retardation, and facial hemihypertrophy. We emphasize the superiority of magnetic resonance imaging over other radiographic studies in outlining the primary central nervous system anomalies associated with this syndrome. Although attempts were made to distinguish between several variants of epidermal nevus syndrome, it is clear that these are one entity. Proteus syndrome, encephalocraniocutaneous lipomatosis, and epidermal nevus syndrome have several overlapping phenotypic features. We suggest that they represent a phenotypic continuum, which in turn suggests a common pathogenetic process. While the cause of these syndromes is unknown, observations point to a somatic mutation leading to variable patterns of mosaicism.
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PMID:Epidermal nevus syndrome: subgroup with neuronal migration defects. 155 48

The incidence of carbamazepine-associated behavioral side effects in 65 individuals with mental retardation and additional seizure and/or psychiatric or behavioral disorders was evaluated. We identified 6 patients (9.2%) who experienced medication side effects, ranging from irritability to mania. Four of the 20 patients (20%) who received carbamazepine purely for treatment of a behavioral or psychiatric disorder experienced medication side effects, whereas none of the 21 patients treated for an isolated seizure disorder experienced similar effects. This difference was statistically significant, p less than .05. The incidence of behavioral side effects of medication was not associated with age, sex, or serum carbamazepine level. The chemical structure and mechanism of carbamazepine use in various disease processes were discussed.
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PMID:Adverse behavioral effects in individuals with mental retardation and mood disorders treated with carbamazepine. 156 12

A case of alternating hemiplegia in a young girl is presented. The partial benefits of treatment with a calcium antagonist Flunarizine in this patient and in those reported in literature are reviewed. The onset of the disease in this girl was at three months of age with several episodes that were diagnosed as seizures; afterwards she presented, besides, repeated attacks of hemiplegia involving both sides of her body in an alternating way each time with daily frequency and hours of days of duration accompanied of bad mood and irritability as well as autonomic disturbances, oculomotor abnormalities, acquired mental retardation and residual focal neurological abnormalities. After one year of treatment with a calcium-entry blocker: Flunarizine, there was a 30% reduction in the attacks frequency as well as in its severity and stop of the progression of mental retardation. So we report the consequence of precocious diagnosis and treatment of this not well known entity whose clinical signs resemble paroxistic vascular anomalies in the brainstem territory.
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PMID:[Alternating hemiplegia. Partial effectiveness of treatment with flunarizine]. 157 Nov 84

The intracranial haemorrhages presented within a group of 64 haemophiliacs along 25 years were revised. During this period, 10 such episodes were seen in 8 patients with haemophilia A; six of them appeared in children under 10 years of age. In five instances there were traumatic antecedents, whereas in the remaining five the haemorrhage was spontaneous, no vascular abnormalities being demonstrated in these last. The lesions observed were: intracerebral haematoma in three instances, subdural haematoma in four, subarachnoid haemorrhage in two cases and cerebellar haematoma in one case. Only one of the episodes was lethal, death being related with infectious complications. Recurrences were observed in two patients. Two patients had sequelae with seizures, plus mental retardation and motor deficit in one of them. Substitutive therapy shows capable of controlling this severe complication of haemophilia, provided it is started promptly and fair rates of factor VIII are maintained. Such therapy must be kept for longer periods in these patients with traumatic antecedents.
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PMID:[Intracranial hemorrhage in hemophiliacs. Study of 10 episodes]. 158 36

A serious shortage of psychiatrists trained to care for mentally retarded patients exists. Based on a successful program that has been in place for more than a decade, the authors offer guidelines for training psychiatric residents in the diagnosis and treatment of mental illness in mentally retarded persons. They describe a model curriculum and suggest ways to modify existing four-year curricula. Special diagnostic skills for working with this population, such as posing questions in concrete terms and ruling out the effects of disabilities like seizure disorders, are reviewed. Important treatment issues include knowing the side effects of neuroleptics and understanding the stages through which families and other caregivers pass in accepting a person's mental retardation.
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PMID:Training psychiatric residents in the diagnosis and treatment of mental illness in mentally retarded persons. 158 15

A case of tuberous sclerosis with congenital brain tumor was reported. The diagnosis was made on the basis of the pathological findings of subependymal giant cell astrocytoma, after surgery at the newborn period. After the neonatal period, the patient presented the classical triad of seizures, white spot of skin and mental retardation. The exact nature of tumor-forming giant cells remains controversial. We studied the nature of these cells using immunohistochemical method. GFAP, S-100 protein and NSE stains were all positive. This result suggested that the tumor cells had the features of both neurons and astrocytes.
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PMID:[A case of tuberous sclerosis with congenital brain tumor; an immunohistochemical study]. 159 Oct 26

A multisource medical register review identified persons with active epilepsy in northern Sweden. Seven hundred thirteen persons aged greater than or equal to 17 years with epilepsy were determined on the prevalence day, December 31, 1985. The overall prevalence was 553 in 100,000 (566 in 100,000 if adjusted to the 1980 U.S. population). The ratio of males to females was 1.1, with a male prevalence of 575 and a female prevalence of 530 in 100,000. Age-specific prevalences varied between 530-644 in 100,000 except in persons aged greater than or equal to 70 years, for whom the prevalence was 321 in 100,000. Partial seizures were most common, 333 in 100,000, of whom the majority (250 in 100,000) had seizures that occasionally were secondarily generalized. Mental retardation was the foremost coexistent disorder, noted in 23%. The mean yearly seizure frequency was higher in persons with mental retardation than in nonretarded persons. Seventeen percent had seizures during the last week, 57% during the last year, whereas 16% had greater than or equal to 5 years' freedom from seizures. Most had onset of epilepsy before age 20 years. A presumed etiology was noted in 35%, more often in men than in women. Cerebrovascular disease was the most commonly identified presumed cause. Other nonepileptic diseases/disabilities were noted in 47%.
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PMID:Prevalence of epilepsy in adults in northern Sweden. 159 18

Wolfram syndrome is an autosomal recessive disorder beginning in childhood that consists of four cardinal features: optic atrophy, diabetes mellitus, diabetes insipidus, and neurosensory hearing loss. Aside from these features, the clinical picture is highly variable and may include other neurologic abnormalities such as ataxia, nystagmus, mental retardation, and seizures. We present two unrelated patients with Wolfram syndrome, both of whom had the four cardinal features and several other neurologic abnormalities. MRIs showed widespread atrophic changes throughout the brain, some of which correlated with the major neurologic features of the syndrome.
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PMID:Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging. 160 50


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