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

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

Two siblings suffering since birth from convulsions, hypotonia, and mental retardation are presented. In the older sibling (eight and one-half years of age) frontal lobe biopsy revealed abnormal cytosomes with lamellar profiles in astrocytes, macrophages, and to a lesser degree in neurons. Similar cytosomes have not yet been reported in cases of sphingolipidoses or in late infantile-juvenile amaurotic idiocy. These cytosomes stained intensely with silver proteinate, an ultrastructural cytochemical stain for carbohydrate moieties. In contrast, lipofuscin did not stain with silver proteinate. Multilamellar (crescentic curvilinear) cytosomes from a reported case of late infantile amaurotic idocy (Batten-Vogt-Spielmeyer disease) did not stain with silver proteinate. Abnormal cytosomes were not found in blood cells, liver, and peripheral nerve. In the younger sibling (14 months old) postmortem ultrastructural studies of cerebral tissue showed very few abnormal cytosomes. On the basis of the clinical and ultrastructural findings, we conclude that these two cases can be distinguished from those with multilamellar (crescentic-curvilinear) inclusions and from cases of the so-called "neuronal ceroid-lipofuscinosis" syndrome.
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PMID:Mental retardation, hypotonia, and generalized seizures associated with astrocytic "residual" bodies. An ultrastructural study. 118 92

The authors report the evolution since birth of a third patient belonging to a sibship affected by the infantile form of Hallervorden-Spatz disease. The diagnosis has been histologically proven in each case. Due to a lack of full clinical reports in the available literature, the emphasis has mainly been placed on the complex extrapyramidal syndrome characteristic of this disorder and illustrated by our own cases. We stree here the occurrence of extrapyramidal fits with exceptionally severe hemiballic movements and torsion spasms. Moreover the clinical signs and their succession in time are strikingly similar in our three patients. Our main purpose is to document accurately the early stages of this disorder; they are characterized by a non-specific spastic diplegia associated with mental retardation. There is a progressive but incomplete improvement during the following years. Thereafter the extrapyramidal syndrome appears. It is to early to decide whether all the infantile cases of Hallervorden-Spatz disease do indeed present a diphasic evoluation because our third patient is the only one to have been followed up since birth; relevant data are scarcely available in the other reported cases. On the other hand, it is correct to state that a spastic diplegia with mental retardation under the age of two--provided a perinatal anoxic excephalopathy has been ruled out--can lead to a wide range of conditions from normality to a neurological disorder as severe as the one reported here.
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PMID:[Infantile form of Hallervorden-Spatz disease (author's transl)]. 122 May 21

Distal brachyphalangy (DBP) of the thumbs is a hereditary autosomal anomaly found in 1 to 1.5% of whites and in less than 1% of blacks. It was found in 26 of 852 mentally retarded patients in the present study; a frequency of over 3%. The male:female ratio was 70:30. There was bilateral DBP IN 69.5% and unilateral DBP on the right hand in 19% and on the left in 11.5%. The 26 cases (100%) showed a subsyndromic aggregate of distal brachyphalangy of the thumb (DBT), short stature and mental retardation, 19 of them presented an abnormal head and 17 presented abnormal feet (nine of them also had convulsions). Six cases are discussed in detail; it is suggested that they belong to particular clinical categories. In addition to gene abnormalities (which is the most likely cause) a possible explanation of the aetiological factors could be found in some sort of anomaly of the hypopituitary-hypothalmic area, since in the five cases where it was investigated, the sella turcica was small in four cases and large in one. Almost all known syndromes of which the subsyndrome discussed here is a part also shown abnormal skulls, and this may add to the aetiology.
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PMID:Distal brachyphalangy of the thumb in mental retardation. 124 Sep 73

We reported a clinical course and autopsy results of an 8-year-old severely handicapped girl with marked periventricular leukomalacia. She was well until 3 days prior to first admission in local hospital. Two days prior to admission, she began to vomit. Twelve hours later, she was noted to be lethargic and developed malaise with frequent vomiting. At physical examination on admission, she had frequent fits and her posture was decerebrate rigidity. Consciousness disturbance continued for two weeks. Thereafter, she became severely handicapped with spastic quadriplegia, mental retardation and intractable epilepsy. She was transferred to our hospital one month later. We cared her totally and carefully with our rehabilitation staff, but during her course several rare happening occurred; she suffered from subdural hemorrhage due to hypocupremia and received an operation for the release of contracture of her hips. She died of acute cardio-respiratory failure at 8 years and 5 months of age. Her autopsy findings were characteristic of the damage to an immature brain during development; cactus formation of cerebellar cortex and periventricular leukomalacia.
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PMID:[A clinical course and autopsy results of an 8-year-old severely handicapped girl with marked periventricular leukomalacia]. 138 94

We studied 153 patients with partial epilepsy who were placed on a carbamazepine monotherapy plan in order to evaluate the clinical factors that may determine drug responsiveness to carbamazepine. The subjects were divided into 3 groups based on their therapeutic outcome--complete seizure control (44%), significant seizure reduction (32%) and unsatisfactory control (24%). Fifteen tentative clinical factors were examined in relation to the therapeutic outcomes. Factors such as seizure type, number of generalized tonic-clonic seizures, age of onset, duration of illness, seizure frequency, previous treatment and EEG finding were relevant to drug responsiveness. However, other variables including mental retardation, etiology, febrile convulsion, positive family history and abnormal neurologic examination showed no significant correlation. Our data suggest that a potential success of carbamazepine treatment should not be underestimated even in patients with complicated clinical features.
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PMID:Can we predict carbamazepine responsiveness in partial epilepsy? 143 65

Thyroid hormone deficiency is frequently associated with central nervous system (CNS) disturbances such as mental retardation, convulsions, coma etc. Studies of quantitative changes in CNS in hypo- or hyperthyroidism are scarce. Evoked potentials is a good method of assessing the electrical response of the brain to different (visual, acoustic, somatosensory) stimuli and has been used extensively in the study of brain disturbances and to a lesser degree in metabolic diseases. We studied the visual evoked potentials (latency and amplitude) in 12 patients with hyperthyroidism and 15 patients with hypothyroidism, before treatment and after they became euthyroid. Four of the hyperthyroids (33%) had abnormally prolonged (> 104 msec) latencies before therapy. Two of them had clinical exophthalmos. No change was observed after euthyroidism was achieved. On the contrary 7 out of 15 (47%) hypothyroids had abnormally prolonged latencies which became normal in 4 when euthyroidism was achieved. Amplitude was lower than normal in 6 and became normal only in one of them after treatment. None of the hyperthyroid patients had amplitude changes. In conclusion, hypothyroid patients may have changes in the amplitude and/or the latency of visual evoked potentials which are reversible to a great extent with thyroxine. Evoked potentials is another method of studying in humans the metabolic effects of thyroxine deficiency in CNS.
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PMID:Visual evoked potentials in hypothyroid and hyperthyroid patients before and after achievement of euthyroidism. 149 Nov 23

Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites, and mental retardation. If the preliminary evaluation indicates galactosemia, there is high risk for E. coli sepsis and death. Strong consideration should therefore be given for early antibiotic therapy in infants with suspected galactosemia in spite of the absence of clinical signs or symptoms of sepsis.
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PMID:Association of Escherichia coli sepsis and galactosemia in neonates. 156 28

We documented seizures in 33 of 68 (48.5%) children with congenital hydrocephalus not associated with myelomeningocele. Mental retardation (MR) and CNS malformations correlated with seizure occurrence; age at shunt insertion and number of shunt revisions and infections were not significant variables in predicting seizures. Of 11 patients seizure free for 2 or more years on medication, six had therapy discontinued without seizure recurrence. Among those 33 children with seizures, 14 (42.4%), including five who had failed withdrawal of medication, have adequately controlled seizures on anticonvulsants. Frequent convulsions despite treatment occur in 13 (39.4%) of the 33 children with seizures. Absence of MR, older age and nonparoxysmal EEG at seizure onset, and absence of CNS malformation correlated with seizure remission. Longer time without seizures while on medication did not predict successful discontinuation of therapy. In contrast, MR correlated significantly with seizure recurrence following cessation of treatment. Our study indicates that medication can be safely discontinued in children with congenital hydrocephalus who are of normal intelligence and have been seizure free on anticonvulsants for 3 years.
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PMID:Seizures in children with congenital hydrocephalus: long-term outcome. 162 Mar 33

Significant effects on the developing brain of exposure to ionizing radiation are seen among those individuals exposed in the 8th through the 25th week after fertilization. These effects, particularly in the most sensitive period, 8-15 weeks after fertilization, manifest themselves as an increased frequency of severe mental retardation (SMR), a diminution in IQ score and in school performance, and an increase in the occurrence of seizures. Of 30 SMR cases, 18 (60%) had small heads. About 10% of the individuals with small head sizes observed among the in utero clinical sample were mentally retarded. When all of the cases of mental retardation are included in the analysis, a linear dose-response model fits the data adequately and no evidence of a threshold emerges; however, if the two probable nonradiation-related cases of Down's syndrome are excluded from the 19 SMR cases exposed 8-15 weeks after fertilization, the evidence of a threshold is stronger. The 95% lower bound of the threshold based on the new dosimetry system appears to be in the range of 0.12-0.23 Gy. In the 16-25 week period, the 95% lower bound of the threshold is 0.21 Gy both with and without inclusion of two probable nonradiation-related retarded cases. In a regression analysis of IQ scores and school performance data, a greater linearity is suggested with the new dosimetry (DS86) than with the old (T65DR), but the mean IQ score and the mean school performance of those exposed in utero to doses under 0.10 Gy are similar, and not statistically different from the means in the control group. The risk ratios for unprovoked seizures, following exposure during the 8th through the 15th week after fertilization, are 4.4 (90% confidence interval: 0.5-40.9) after 0.10-0.49 Gy and 24.9 (4.1-191.6) after 0.50 Gy or more when the mentally retarded are included and 4.4 (0.5-40.9) and 14.5 (0.4-199.6), respectively, when they are excluded.
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PMID:A review of forty-five years study of Hiroshima and Nagasaki atomic bomb survivors. Brain damage among the prenatally exposed. 176 13


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