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

Tuberous sclerosis is characterized by epilepsy, mental retardation and adenoma sebaceum. Seizures and mental retardation were the presenting complaints in the nine cases presented here; however, a variety of clinical manifestations of the disease exist. Early diagnosis facilitates genetic counseling.
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PMID:Tuberous sclerosis. Report of nine cases and a review. 71 85

Pathological type complications associated with 46 cases of neurofibromatosis in children under 12 are reported. It is noted that in 65.2% of the cases there are mental retardation, usually serious. More than 50% (24 cases) had some type of tumoration. All were benign with the exception of a suprarenal neuroblastoma that caused arterial hypertension and histological characteristics of malignancy. Fifteen tumors were located in the optica ways, one in the mediastinum, one in the abdomen, one in the paravertebral area, one which was a craneal plexiform tumor and four of the moluscum pendulum type on the eyelids or in neighbouring regions. Twelve children suffered from some type of seizures (Salaam's spasms, tonic-clonic, myoclonic, atonic and versive). Radiological abnormalities were very frequent in the simple X rays as well as in those in which contrast medium was used. In four cases malformations of the midline were observed, three of which were non-communicating cysts of the septum pellucidum, the other agenesis of the corpus callosum. Neurofibromatosis was further seen associated iwth Bourneville's syndrome, Morquio's syndrome, Batten's type of lipofuscinosis, facial or generalized hemihypertrophia and stenosis of the aqueduct. Heredity was dominant autosomic in 16 cases, the rest being due to possible recent mutations.
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PMID:[Pathological complications in 46 cases of neurofibromatosis in children (author's transl)]. 82 74

Eight severely epileptic patients, four males and four females, ranging in age from 10 to 29 years, were trained to increase 12-14 Hzeta EEG activity from the regions overlying the Rolandic area. This activity, the sensorimotor rhythm (SMR), has been hypothesized to be related to motor inhibitory processes (Sterman, 1974). The patients represented a cross-section of several different types of epilepsy, including grand mal, myoclonic, akinetic, focal, and psychomotor types. Three of them had varying degrees of mental retardation. SMR was detected by a combination of an analog filtering system and digital processing. Feedback, both auditory and/or visual, was provided whenever one-half second of 12-14-Hz activity was detected in the EEG. Patients were provided with additional feedback keyed by the output of a 4-7-Hz filter which indicated the presence of epileptiform spike activity, slow waves, or movement. Feedback for SMR was inhibited whenever slow-wave activity spikes or movement was also present. During the treatment period most of the patients showed varying degrees of improvement. Two of the patients who had been severely epileptic, having multiple seizures per week, have been seizure free for periods of up to 1 month. Other patients have developed the ability to block many of their seizures. Seizure intensity and duration have also decreased. Furthermore, the successful patients demonstrated an increase in the amount of SMR and an increase in amplitude of SMR during the training period. Spectral analyses for the EEGs were performed periodically. The effectiveness of SMR conditioning for the control of epileptic seizures is evaluated in terms of patient characteristics and type of seizures.
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PMID:Behavioral management of epileptic seizures following EEG biofeedback training of the sensorimotor rhythm. 82 50

In the area of Cesena, Italy, the prevalence of epilepsy was about 3/1,000 among the 13,000 children of school age, 6-14 years. Only half the epileptic pupils had a normal scholastic record. One-third were in special classes, nearly all because of mental retardation due either to birth injury or to damage in infancy. The others (17%) were behind by one or more classes, mainly because of a depressive reaction owing (in half of the intelligent epileptics) mainly to classmates' fear of seizures and to the hostility of classmates' parents after the pupil had a grand mal seizure in school. Teachers had usually not learned how to manage either seizures in the classroom or the problems of pupils with epilepsy.
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PMID:Record in grade school of pupils with epilepsy: an epidemiological study. 82 93

Microcephaly and considerable motor and mental retardation occurred in two non-phenylketonuric children of an untreated mother with phenylketonuria. The cerebral damage of the children must be considered the consequence of the maternal metabolic disorder. Since the first phenylketonuric children who were treated on strict diet are now reaching the age of marriage and pregnancy, the problem of maternal phenylketonuria is becoming topical. Published reports indicate that of 72 well documented cases with a maternal phenylalanine level above 200 mg/1 (1210 mumol/1) 39 offspring had microcephaly, in 33 intra-uterine growth had been retarded and in 25 there are cerebral palsy and seizures. Almost all had mental retardation. At the same time there have been reports about three normal children whose mothers had kept to a phenylalanine-low diet during their pregnancy.
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PMID:[Children of mothers with phenylketonuria (author's transl)]. 83 53

Siblings are reported with severe mental retardation, spastic cerebral palsy and seizures; in addition they had progressive or intermittent jaundice and recurrent infections; they died at 3 and 4 years respectively. Neuropathological studies in one showed a small brain with an almost complete lack of myelin in cerebral white matter, brain stem, cerebellum and anterolateral parts of the spinal cord. The condition most likely represents a dysgenesis of myelin (dysmyelination), possibly due to an inability of oligodendrocytes to form myelin and/or metabolic defects in the process of myelination. This mental retardation condition is probably inherited as an autosomal recessive trait and may represent a special type of a primary CNS developmental defect.
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PMID:Fatal CNS dysgenesis with severe microencephaly, mental retardation, seizures and paucity of myelin, autosomal recessive trait? 83 46

A simple fluorescent spot screening test has been developed for the identification of individuals with arginase deficiency (hyperargininemia). The assay is based on the coversion of arginine to ornithine and urea by arginase present in 1/8 inch disc of dried blood on filter paper. The enzyme activity is visually estimated by the oxidation of NAD-H to NAD+ in a coupled kinetic reaction. In the absence of the enzyme, there is no oxidation of the NAD-H and consequently no loss of fluorescence. The screening assay has been used to identify successfully both heterozygous and homozygous arginase-deficient crabeater macaques (M. fascicularis) as well as three patients with hyperargininemia. This test can be used to screen large numbers of patients with mental retardation or seizure disorders rapidly to determine the frequency of this disorder more precisely.
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PMID:A simple screening test for arginase deficiency (hyperargininemia). 84 87

The clinical and biochemical data on 13 patients with Batten's syndrome are described. Clinically the disease was characterized by progressive maental and somatic deterioration. Initially, vision loss was found between the ages 4 and 8 years. This was associated with 1 or 2 years of normal school attendance followed by attendance at a school for mentally retarded from the age of 8 to 11; then warding was established at a school for blind children and later on a hospital for epileptic patients when seizures and mental retardation made hospitalization necessary. Biochemically, an increased peroxidation rate was revealed in peripheral thrombocytes. This abnormality was associated with a significant decrease in peroxidase activity of leucocytes assayable with p-phenylenediamine, but not with Guajacol. The peroxidase defect seemed to concern an azide-resistant peroxidase. However, in serum the glutathione peroxidase was only found insignificantly decreased.
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PMID:Clinical, social and biochemical studies on Batten's syndrome, alias Spielmeyer-Vogot or Stengel's Syndrome. 87 40

Similar movement disorders developed in two 8-year-old retarded children while they were receiving phenytoin. Seizures subsequent to a diphtheria-pertussis-tetanus immunization had developed in each child at 1 to 2 months of age. A static encephalopathy ensued, characterized by mental retardation, ataxia, spasticity, and a mixed seizure disorder. Intermittent dystonia and choreoathetosis developed insidiously while serum phenytoin concentrations were in the therapeutic range. Sustained dystonia and choreoatheosis developed 2 hours after an oral provocation with phenytoin. The baseline abnormalities on the electroencephalogram remained unchanged during the choreoathetosis. Recognizable metabolic abnormalities known to be associated with similar movement disorders were excluded. It was concluded from these studies that the movement disorder is secondary to phenytoin and can occur at therapeutic serum concentrations. Phenytoin is a central anticholinergic agent and a central stimulant of serotonin, and may induce movement disorders as a result of altering these neurotransmitters in the brain. The variable expression of these movement disorders may relate to the nature of the preexisting striatal insult.
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PMID:Phenytoin-induced dystonia and choreoathetosis in two retarded epileptic children. 94 1

In a prospective study of 130 infants with neonatal convulsions, the frequency and type of epilepsy and the relationship between the presumptive etiology of neonatal convulsions and subsequent epilepsy were investigated in 82 survivors exclouding those dying and lost to follow-up. Of these 82 children, 15 (18.2%) were found to have epilepsy, which was of generalized type in seven (8.5%), infantile spasm in four (4.9%), focal seizures in three (3.6%) and myoclonic seizures in one (1.2%). Febrile convulf neonatal convulsions were asphyxia, intracranial hemorrhage or neonatal meningitides in most instances, but no particular relationship was noted between the presumptive etiology of neonatal convulsions and the type of subsequent epilepsy. In 11 (73.3%) of the 15 epileptic children, convurrent mental retardation, cerebral palsy and postmeningitic hydrocephalus were noted. Evidence from RI cisternography, pneumoencephalography and cerebral angiography indicated that perinatal or neonatal brain damage responsible for epilepsy might be organic in nature. The fact that epilepsy occurred later in many of cases of neonatal convulsions of unidentified etiology suggests that brain damage incurred during fetal life might also be implicated at least in some instances. The onset of epilepsy in this series was relatively early, invariably before three years of age.
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PMID:A prospective study of epilepsy following neonatal convulsions. 99 20


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