Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Studies on the growth and development of patients with Bartter's syndrome indicate that severe growth retardation occurs during infancy and early childhood. Delayed adolescent growth spurt has occurred in all patients studied thus far who had manifested the syndrome during infancy. Normal stature is eventually attained. Mental development ranges from normal to brain damage and dysfunction; however, the majority of patients show some degree of mental retardation. The coexistence of Leigh's encephalopathy with Bartter's syndrome in one patient and the finding of severe motor and congnitive retardation with communicating hydrocephalus in another indicate that the prognosis of mental development in some cases of Bartter's syndrome is guarded. Particular attention should be given to maintaining normal nutritional status in all patients, particularly during infancy and early childhood.
 ...
PMID:Growth characteristics in patients with Bartter's syndrome. 22 May 47

Medulloblastoma and acute lymphocytic leukemia patients treated by intrathecal methotrexate and radiation were investigated by means of computerized axial tomography. More than 50% of them turned out to have acquired encephalopathy. Only gross morphologic brain defects, as visualized by computerized tomography, caused manifest clinical signs of brain dysfunction, such as epilepsy, mental retardation, paresis, and apallic syndrome. Mild morphologic changes were found even in asymptomatic children. The preferred site of defects in brain substance was the paraventricular white matter.
 ...
PMID:Findings in computerized axial tomography after intrathecal methotrexate and radiation. 28 21

An analysis was accomplished of pathomorphological changes in the brains of 10 newborns, who died of intranatal asphyxia and of 1 adult brain with mental retardation, due to asphyxia during delivery. The dynamics of hypoxic changes of an irreversible character in the brain of the newborn and the existence of chronic hypoxic encephalopathy with pronounced cellular devastation in the late period of asphyxia indicate common genesis of the pathological process in the brain, conditioning its progression. The role of intranatal asphyxia in the pathogenesis of changes in postnatal development of neuropsychic activity is discussed.
 ...
PMID:[Morphologic changes in the brain after sustaining asphyxia during labor (pathogenesis of mental retardation)]. 46 52

The record of 67 cases under 15 years of age who were hospitalized during status convulsivus from 1975 to 1978, the 348 cases who visited the hospital for the first time with epilepsy (Oct. 1977 to Sept. 1978) and the 32 cases who were hospitalized during status epilepticus from 1969 to 1974 and who are being followed up as outpatients were studied. The frequency of status epilepticus was 8% among epileptic children. There was no difference in the frequency of incidence between male and female. Patients with mental retardation, however, were revealed to have status epilepticus twice to three times more frequently as compared to cases without mental retardation. The major seizure types of status epilepticus in childhood were generalized tonic clonic convulsion and unilateral clonic convulsion. In 25% of the cases, status epilepticus was the first ictal manifestation. The major cause of status convulsivus was epilepsy, followed by encephalitis and encephalopathy, but cases due to brain tumor were rare. The drug of first choice for status convulsivus is diazepam. If there is any difficulty in controlling status convulsivus with diazepam, it may be worthwhile to consider what the problem is, causes of status convulsivus, seizure type, or basic disease of the patient. The effective dose of diazepam was within the range of 0.3--0.5 mg/kg. When the effect is not sufficient, the dose of diazepam should be increased to 1 mg/kg while watching the general condition of the patient. Factors affecting the prognosis of status convulsivus were its cause, duration, onset age and effectiveness of therapy during the acute stage. The frequency of cases who suffered disability after status epilepticus was 56%. (transient disability 43%, permanent disability 13%) The most frequent type of transient disability was hemiplegia. Most epileptic children who had repetitive status convulsivus revealed psychomotor retardation before first status. Factors which cause repetitive status seem to be hemispheric brain damage or diffuse corticocentrencephalic damage.
 ...
PMID:Therapy and prognosis of status convulsivus in childhood. 52 Sep 66

The case of five-year old boy is reported who at the age of 18 months had successfully been operated upon for neuroblastoma and who had subsequently signs of cerebellar encephalopathy. The paraneoplastic conditions of childhood are discussed in connection with the reported case. Opsoclonus was not observed in the patient, and symptoms showed rapid improvement on methotrexate, carmustine and CCNU treatment. Six months later the child was free of neurological disturbances and only displayed a slight mental retardation (IQ: 88). Cytological alterations observed in the CSF during the cerebellar encephalopathy are described in detail. At present, 41 months after the operation the child is well and free of symptoms.
 ...
PMID:Paraneoplastic syndrome in childhood. 60 50

Histidinemia was found in 3 of 4 siblings in one family, while a fatal encephalopathy with mental retardation was present in two of them and in the fourth child who did not have histidinemia. Biochemical studies of the histidinemic subjects showed elevated histidine levels in urine, CSF, and brain, while in a few urine samples histidine related imidazole compounds were found. Plasma levels of other amino acids were positively correlated with plasma histidine levels. Obesity and heart abnormalities appeared to be associated with the encephalopathy, which is probably of a new type. The histidinemia appears to be unrelated to the mental retardation or the encephalopathy in this family.
 ...
PMID:Sibship with histidinemia and an unrelated encephalopathy. Clinical and biochemical studies. 61 85

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.
 ...
PMID:Phenytoin-induced dystonia and choreoathetosis in two retarded epileptic children. 94 1

As many as 120 subjects, directed in 1984-1988 to the Diagnostic-Consultative Family Centre in Szczecin, were studied due to behaviour disorders or penal acts. Thirteen (10.8%) juveniles were exempted from further studies, since they were diagnosed to have mental deficiency or encephalopathy. The rest was studied by means of diagnostic criteria for behaviour disorders according to DSM-III-R. Those complying with the criteria made up a group with Behaviour Distemper Syndrome (BDS)--74 persons (55 boys and 19 girls), while the others formed a group holding Single Behaviour Distemper (SBD)--33 persons (21 boys and 12 girls). Two age subgroups, 7-14 and 15-17 years, were isolated from each of the groups. Use was made of own questionnaire to collect data concerning factors that might induce the revealed behaviour disorders. Groups BDS and SBD were compared with regard to the type and incidence rate of respective signs of behaviour disorders, according to criteria DSM-III-R, and also the age, sex as well as social background, living environment, and hereditary encumberance, course of pregnancy and delivery, former psychophysical development, use of condiments, somatic disorders actually evidenced, parental and school environmental atmosphere and that of peers of the studied group.
 ...
PMID:[Analysis of disorders of adolescent behavior at the Diagnostic- Referral Family Center in Szczecin]. 129 Mar 50

This study presents ultrasound findings and neurodevelopmental follow-up in ten infants born at term suffering most severe grade of hypoxic-ischemic encephalopathy. Early ultrasound findings showed in nine of these ten neonates signs of cerebral edema accompanied in two children by intraventricular haemorrhage. Late ultrasound findings in all infants examined demonstrated severe cerebral atrophy, predominantly affecting the cortico-subcortical area. In three children multiple subcortical cysts were also present, corresponding to ultrasound findings of subcortical leukomalacia. Cranial computerized tomography was performed in six of the ten children, showing more precisely the predominant site of cortical atrophy, whereas in children with ultrasound findings of subcortical leukomalacia extensive low density areas in the subcortical white matter were present. All children had neurodevelopmental follow-up for between two and seven years. Six of the ten children have multiple disabilities suffering from spastic quadriparesis, epilepsy, mental retardation and/or visual disability. Among these six were all three children with subcortical leukomalacia. All the children demonstrated poor head growth and became markedly microcephalic. We consider ultrasonography to be very useful in the diagnosis of hypoxic-ischemic brain damage in term neonates as well in predicting the neurodevelopmental outcome in asphyxiated term infants.
 ...
PMID:Hypoxic-ischemic brain damage in term neonates--the relation of neurodevelopmental handicap to cranial ultrasound findings. 146 97

The Lesch-Nyhan syndrome is a rare inborn error of purine metabolism caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT), which results in mental retardation with characteristic self-mutilation, spasticity, extrapyramidal signs and hyperuricaemia. The clinical and biochemical findings in an 18-month-old boy, who presented with renal calculi and was shown to have less than 1% of normal HGPRT activity, are reported. The obvious neurological abnormalities had previously been thought to be due to hypoxic-ischaemic encephalopathy. The expected incidence of this disease is much higher than the known number of cases diagnosed.
 ...
PMID:The Lesch-Nyhan syndrome--an under-recognised condition in South Africa? A case report. 156 65


1 2 3 4 5 6 7 8 9 10 Next >>