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

698 children below age sixteen years with severe mental handicap (below IQ50) who were admitted to hospital between 1956 and 1959 were surveyed for genetic prognosis. They were divided into 23.7% ascribed primarily to environmental factors, 50.9% unclassified aetiologically, 16.2% of Down's syndrome, 5.3% other genetic syndromes and 3.9% with congenital hydrocephalus. The incidence of a similar degree of mental retardation among the sibs of 660 whose families were traced, was 1.1% in the "environmental" group; 4.7% for the unclassified; 1.7% for Down's syndrome, 11.5% for other genetic syndromes and 4.3% for hydrocephalus with spina bifida. There were no affected sibs of the uncomplicated cases of congenital hydrocephalus. This survey underlines the fact that a high proportion of cases of mental handicap remain without aetiological diagnosis. It emphasises the value of such a diagnosis for genetic counselling. Advice given depends on the circumstances of the particular case which requires a detailed social history and sympathetic rapport by members of the team as well as appropriate clinical expertise (Kirman, 1971, 1972). When families with similarly affected new relative or previous severely mentally handicapped sibs are set aside, the recurrent risk for unclassified cases is reduced to three per cent.
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PMID:Genetic prognosis in severe mental handicap. 12 70

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.
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PMID:Growth characteristics in patients with Bartter's syndrome. 22 May 47

The increasing number of ampicillin-resistant Haemophilus influenzae recoveries have required a change in the treatment of meningitis due to this organism. Chloramphenicol has been recommended and is an effective though toxic substitute. Streptomycin combined with sulfisoxazole has been as effective as ampicillin in treating H influenzae meningitis. The results of treating 61 children with ampicillin were compared with results of those given streptomycin intramuscularly, in three intrathecal doses with sulfisoxazole intravenously, and by mouth to 50 children. Permanent neurological sequelae, including deafness, mental retardation, and persisting seizures, developed in the six given ampicillin; communic-ting hydrocephalus occurred in one who had been treated with streptomycin and sulfisoxazole. There was no phlebitis, buttocks abscess, or drug eruptions, and treatment was better tolerated in the streptomycin and sulfisoxazole group. This combination is suggested as an effective alternative to ampicillin.
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PMID:Streptomycin and sulfisoxazole for treatment of Haemophilus influenzae meningitis. 24 31

We report an uncle and niece with duplication and deletion, respectively, of segment 7p15 leads to 7p21 originating from a balanced, intrachromosomal insertion in their mothers. The proposita had prenatal and postnatal growth deficiency, retarded psychomotor development, microcephaly, wide cranial sutures, ocular hypertelorism, small palpebral fissures, apparently low-set and malformed ears, cleft palate, congenital heart defect, hypoplasia of the distal phalanx of first fingers, rocker-bottom feet, persistent cloaca, and imperforate anus. She died at three months. Her maternal uncle has duplication of this segment and is alive at 32 years. He has severe mental deficiency, but normal growth; communicating hydrocephalus was diagnosed at three months.
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PMID:Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15 leads to 7p21. 53 2

Microcephaly and mental retardation have been principal features of the fetal alcohol syndrome. This article describes the neuropathologic findings in four human neonates who were exposed to large quantities of ethanol at frequent intervals during gestation. The findings suggest that intrauterine exposure to ethanol can result in structural abnormalities of the brain. All four brains displayed similar malformations stemming from errors in migration of neuronal and glial elements. Hydrocephalus was one consequence of the malformations in two of the infants. Futhermore, the brain alterations may be the only distinct abnormality produced by in utero ethanol exposure. Only two of the four subjects were diagnosed as having the fetal alcohol syndrome from external criteria.
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PMID:Brain malformations related to prenatal exposure to ethanol. 61 80

51 adults with spina bifida, aged between 18 and 56 years, resident in South Wales, were interviewed in their home. Although only four had obvious hydrocephalus, one-third of them were severely handicapped and a further 40% had moderate handicap. Over half of them had had their secondary education in a normal school, with the remainder having special schooling or home tuition. Seventy per cent of the series was in normal, full-time occupation, including half those severely handicapped. Those in work were largely in managerial/technical, clerical, and light manual occupations. It is concluded that extendance and training, followed by special job placement, would help to integrate them into the community. These patients show that, in the absence of mental retardation, even severe physical handicap is no bar to normal occupation and that paralysis and incontinence alone are probably not valid selection factors for or against 'aggressive' treatment for spina bifida.
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PMID:Degree of physical handicap, education, and occupation of 51 adults with spina bifida. 78 21

We report clinical findings in 2 sisters and 5 sporadic cases with a "new" type of craniosynostosis/craniofacial dysostosis and shortness of stature. Premature closure of lambdoid sutures and posterior part of sagittal suture causes a posteriorly narrow, dolichocephalic skull with small, flat or bulging occiput and protuberance of the forehead; disturbance of the growth of basal skull structures leads to craniofacial dysostosis and (secondary) anomalies of the face. In one patient the coronal suture was also involved. One of the patients had a congenital heart defect. Four untreated patients had mental retardation; 3 had craniosynostectomy with more or less normal psychomotor development afterwards. Some patients had hydrocephalus and 1 had a brain malformation (agenesis of the corpus callosum with presumed interventricular lipoma). The observation of sisters with the same condition suggests autosomal recessive inheritance. This etiologic hypothesis is supported by the fact that 4 of 7 patients are of Spanish, Mexican, or Puerto Rican ancestry; this population probably has a rather high gene frequency and the trait should be relatively common in areas occupied by this population and their descendents. The condition has been designated craniofacial dyssynostosis.
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PMID:Studies of malformation syndromes of man XXXIX: a craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: "craniofacial dyssynostosis". 95 68

Six children with bilateral or unilateral anophthalmia were described. Malformations of the face and the extremities, stunted growth, hydrocephalus, muscle hypotony and mental retardation in varying degrees and combinations were also found. The genesis is not clear. With two siblings who exibited a combination which has not been described previously of anophtalmia on one side and microphthalmia on the other together with a cutaneous hexadactyly, the fact that the combination occurs in both children and that the mother exibits a "incomplete form" (?) of the ophthalmologic symptom tends to indicate that the cause is genetic.
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PMID:[Anophthalmia and accompanying malformations (author's transl)]. 98 24

A new family is reported of a Bickers-Adams-Edwards syndrome. This family has been studied up to three generations. Two female carriers are known. Among the six male children who are affected, four are severely mentally retarded, have spasticity of the legs, and survived with a mild macrocephaly, and two show a more severe and rapid progression of head enlargement. A partial aqueductal stenosis, with remarkable ventricular dilatation, has been demonstrated by pneumoence-phalography in three boys. A deformity of the thumbs links these six children together. One of them has been treated by a ventriculoperitoneal shunt, when 18 months old, without any improvement in the neurological condition. The mental deficiency is much more severe than could be expected from the degree of hydrocephalus, at least as estimated clinically by the macrocephaly. Hydrocephalus is precocious, and the ventricular dilatation very advanced when seen by PEG studies. Recognition of the female carriers is not possible.
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PMID:X-linked hydrocephalus, with aqueductal stenosis, mental retardation, and adduction-flexion deformity of the thumbs. Report of a family. 99 65

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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