Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 10-year-old girl, one of three affected sisters, with non-ketotic hyperglycinaemia is described. In contrast to other reported cases, the course of the disorder was comparatively mild in this family. The only clinical signs were mental retardation and abnormalities in the EEG; blood glycine levels were 2-3 times normal. In the propositus, the formation of 14CO2 from glycine-1-14C and of FH414CH2OH from glycine-2-14C were impaired, shown by the decreased 14CO2 content of expired air and diminished labelling of carbon 3 of serine. However, the biochemical defect was no less than that seen in patients with much more severe clinical effects.
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PMID:Non-ketotic hyperglycinaemia in a family with an unusual phenotype. 11 82

A 14-year-old boy had suffered from intermittent acute hepatic porphyria, myoclonic convulsions and mental retardation (Lennox-Gastaut syndrome). The porphyria was treated by stopping the administration of phenobarbitone and phenytoin. Sodium valproate at a dose of 70 mg/kg per day lessened the severity and frequency of convulsive crises.
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PMID:Aucte intermittent porphyria and epilepsy. 11 1

This experiment presents a model for analyzing community living skills and teaching them to mentally retarded adolescents. A task analysis of three mending skills was developed and validated, aided by consultation with persons having expertise in home economics and mental retardation. The task analysis was modified to compensate for the constraints imposed by the trainees' disabilities. Five moderately retarded youths received training on sewing hems, buttons, and seams. Sewing skills were acquired rapidly and maintained. The behavior generalized from trained to untrained tasks on their common components for all subjects. A multiple baseline across participants combined with a multiple baseline across responses demonstrated the combined effectiveness of an objectively validated, detailed task analysis; graduated sequence of prompts; and response consequences in training and maintaining community living skills with mentally retarded adolescents.
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PMID:Teaching mending skills to mentally retarded adolescents. 11 4

The clinical picture of the Schimmelpenning-Feuerstein-Mims (or nevus sebaceus linearis) syndrome is described. The syndrome especially its excessive formes, is a relatively rare, but typical biotype of the neuroectodermal phakomatosis disorders. Symptomes are multiple widespread linear sebaceus nevi, seizures and mental retardation, ECG anomalies and ocular dysplasia and dystrophia, which can cause blindness.
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PMID:[Schimmelpenning-Feuerstein-Mims-syndrome (author's transl)]. 11 1

We report a brother and sister with Dyggye-Melchior-Clausen dysplasia with mental retardation (MR) but as yet without spinal cord injury due to cervical spine abnormality. Mucopolysaccharide metabolism was studied in several ways and was found to be normal. Segregation analysis and study of consanguinity data confirm that both forms of the syndrome--that with MR, and that without MR (Smith-McCort dysplasia) are rare autosomal recessives. Spinal cord injury and early death is a danger in both.
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PMID:Dyggve-Melchior-Clausen syndrome: genetic studies and report of affected sibs. 11 10

A case of "moya-moya" disease of a 12-year-old boy is reported. The clinical history started at 3 years 2 months after cranial trauma. The patient developed mental retardation, hemiparesis and seizures.
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PMID:"Moya-moya' disease caused by cranial trauma. 12 67

The prevalence of hepatitis B surface antigen (HBsAg) in 155 patients with Down's syndrome (DS) and 209 with other types of mental retardation (OMR) at Huronia Regional Centre, Orillia, Ontario was 34.8 and 5.3%, respectively. There was no significant difference in prevalence between males and females in either group of patients. In 75 matched pairs (DS-OMR) the HBsAg prevalence was 45% in DS and 8.3% in OMR males; in females 40% of those with DS were HBsAg-positive, whereas all the OMR residents were negative. The prevalence of HBsAg in both DS and OMR groups was higher in those admitted in early childhood and in those who had resided in the institution for more than 10 years. In all 54 HBsAg-positive DS patients the antigen subtype was ad. Among the 11 HBsAg-positive OMR patients the subtype was ad in 10 cases and ay in 1.
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PMID:Hepatitis B surface antigen and its subtypes in an institution for the mentally retarded. 12 13

The current trend to fewer births per family, a lower birth rate, and a national commitment to reduce mental retardation calls for evaluation of methods which will optimize perinatal outcome individually and in a collective sense. Based on the assumption that continuous fetal heart rate monitoring during labor can reduce perinatal mortality and morbidity by 50%, a cost analysis is constructed. The cost for total monitoring of 3000 deliveries per year is compared with the potential savings due to prevention of one-half of the mental retardation that would develop from the same group were they not monitored.
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PMID:Fetal monitoring: is it worth it? 12 61

Computer analyses of the electroencephalograms of normal children, and children with Down's syndrome who were mentally retarded, revealed differences in the distribution of amplitude between the two groups. Normal children, in the early postnatal period, generate EEG's which have a non-Gaussian distribution of amplitude that becomes increasingly Gaussian before one year of age and remains so throughout subsequent development. Conversely, the EEG's of children with Down's syndrome exhibit highly non-Gaussian properties at all ages studied. The EEG's of two mentally retarded autistic children did not show this property, so it is not merely a concomitant of mental retardation. The first-order Gaussian distribution may reflect the degree of inteneuronal coupling; since an increased number of connections on any neuron implies decreased functional dependence of that neuron on any other particular single neuron, the present evidence, which indicates stronger interneuronal coupling in mongoloids, suggests that Down's syndrome may be associated with incomplete postnatal development of interconnections between cortical neurons.
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PMID:Non-Gaussian behavior of the EEG in Down's syndrome suggests decreased neuronal connections. 12 3

In order to determine the effectiveness of operant approaches to group therapy with children with cerebral palsy or mental retardation, four boys aged between 4 years 10 months and 5 years 7 months were given a total of 23 twice-weekly 30-minute treatment sessions. After treatment there was considerably improvement in the children's attention-to-tasks and they showed some increase in social interactions, though to a lesser degree. Teacher ratings also showed some improvement in classroom behavior.
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PMID:Operant approaches to group therapy in a school for handicapped children. 12 69


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