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

This article is not about specific conditions such as cerebral palsy, or deafness, or mental retardation, it is about every handicapped child; that is every child whose development and life fulfillment are restricted and who requires help to overcome or to reduce the effects of his handicaps. The picture and principles described below apply to all handicapped children whatever the nature of their basic disorder.
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PMID:The handicapped child. 13 Sep 96

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

A 9-year-old boy, the product of a consanguineous marriage, had visual acuity of 6/60, pendular nystagmus, and a bull's-eye type of macular atrophy. A sensorineural deafness was present. The photopic electroretinogram was extinguished; the electro-oculogram was normal. There was associated mental retardation and failure of inhibition of the pituitary gland by high levels of circulating thyroid hormone. Two older siblings although not examined, had similar endocrine abnormalities. Non-involvement of three half-siblings suggested autosomal recessive inheritance.
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PMID:[Typical monochromacy, congenital deafness, and resistance to intracellular action of thyroid hormone (author's transl)]. 30 3

We report three sisters with ovarian dysgenesis; all three and two of their otherwise apparently normal brothers also had moderate to severe sensorineural deafness. Three similarly affected sibships are known, and the total of 14 affected patients includes three males with deafness without gonadal defect, one woman with ovarian dysgenesis without deafness, and ten women with ovarian dysgenesis and deafness. In two families parental consanguinity is known. We conclude that this condition, which we propose to designate the Perrault syndrome, is an uncommon autosomal recessive trait with obligatory ovarian dysgenesis in female homozygotes and facultative deafness in male and female homozygotes. Right bundle branch block and mental retardation may possibly be additional, less common pleiotrophic manifestations.
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PMID:The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. 51 79

Typical Cockayne syndrome was seen in a boy and his younger sister and these two cases are reported here, and reported cases of the syndrome in Japan are summarized. Both cases (an 11-year-old boy and a 7-year-old girl) had dwarfism, a senile face, retinitis pigmentosa, photosensitivity, and mental retardation. Calcium deposition in the basal ganglia was seen by CT scan. In both cases nerve conduction velocities were reduced suggesting peripheral neuropathy, but segmental demyelination on sural nerve biopsy was not demonstrated. Twenty seven cases of the syndrome has now been reported in Japan in 21 families (including the above two cases), consisting of 14 males and 12 females (the sex of one case was unknown): consanguineous marriage was confirmed in 14 families. Eleven cases in five families were siblings. The estimated ages of onset were from 1 month to 3 years, and in most cases photosensitivity was the initial symptom. Clinical manifestations were mental retardation in 25 cases (93%), dwarfism in 24 cases (89%), photosensitivity in 23 cases (85%), articular contracture in 22 cases (81%), sunken eyes in 20 cases (74%), retinitis pigmentosa in 17 cases (63%), deafness in 16 cases (59%), and intracranial calcification in 14 cases (51%). Intracranial calcification will be more often detected in future following the development of CT scanning.
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PMID:Cockayne syndrome: report of two siblings and review of literature in Japan. 55 50

A longitudinal study was conducted of 243 children with congenital rubella. In this sample a high rate of autism and a high rate of recovery were observed. Examination of the data suggested that the rubella virus was the primary etiologic agent. It is hypothesized that the course of autism was that of a chronic infection in which recovery, chronicity, improvement, worsening, and delayed appearance of the autistic syndrome all were found. Other rubella consequences such as blindness, deafness, and cardiac and neuromuscular defects remained present except as modified by operations and prostheses. Degree of mental retardation initially was related to the outcome of autism but shifts in mental retardation over time did not correlate significantly for the group with shift in the autistic symptoms.
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PMID:Follow-up report on autism in congenital rubella. 57 6

Consanguinity analysis can be performed in populations comprising collections of genetic isolates, and the resulting estimates can be valid and useful in phenotypes caused by numerous recessive genes, such as mental retardation and congenital nerve deafness. Maximum likelihood methods are presented for estimating gene frequency and proportions of homozygous cases of morbid phenotypes in such populations.
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PMID:Consanguinity analysis in heterogeneous populations. 87 66

A characteristic syndrome is described in which congenital sensori-neural deafness is associated not only with onychodystrophy but also with congenital bony anomalies the most characteristic of which are tri-phalangeal thumbs, bi-phalangeal digits of hands and feet, and dystrophic terminal phalanges of some of the fingers and toes. In addition, there is mental retardation and the dermatoglyphics are characterized by the presence of 10 arches and elevation of the atd angles. The syndrome is inherited as an autosomal recessive. It is suggested that this entity be named the D.O.O.R. Syndrome because of the deafness, onychodystrophy, osteodystrophy and retardation. A similar syndrome without retardation as described by Goodman et al. (1969) appears to be inherited as an autosomal dominant.
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PMID:Congenital sensori-neural deafness associated with onycho-osteo dystrophy and mental retardation (D.O.O.R. syndrome). 113 83

Of the 20 patients given rifampicin and isoniazid, 19 survived and one died. Twelve patients recovered from the disease without any significant neurologic defect. Seven patients had moderate to severe handicaps which included hemiparesis in four, hydrocephalus in two,mental retardation in three, and blindness in one. There was no hearing deficit. The average hospital stay in this group was 3-1/2 weeks. Among the 13 patients given streptomycin, PAS, and isoniazid, four are dead. Only three patients recovered with a completely good condition. The remainder had either single or multiple neurologic defects. The moderate degree of nerve deafness was also observed in two patients.
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PMID:Evaluation of rifampicin in the treatment of tuberculous meningitis in children. 118 10

The occurrence of deaf-mutism and goiter unassocaited with creatinism or mental retardation in euthyroid patients is known as Pendred's Syndrome. It is considered due to a single mutant recessive gene responsible for both the goiter and deafness. The penetrance is high, the intenseness of expressivity may vary within the same family and only one generation is affected. The extremely atypical hyperplasia seen in such goiters has been considered malignant. In 1956 the author reported a family in which 4 of 6 sibilings demonstrated Pendred's Syndrome. Three of the 4 had undergone thyroidectomy, two were considered to have carcinoma. Nineteen years later the family is again reported. The fourth sibling has recently undergone thyroidectomy. This thyroid demonstrated the same atypical hyperplasia as seen in the elder two siblings. The 19 year followup of this family has shown no evidence of recurrence or metastases, indicating that the atypical hyperplasia is probably not malignant. Pendred's Syndrome is described and certain suggestions are made for the counseling of the parents and the treatment and counseling of those children so afflicted.
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PMID:Goiter and deaf mutism. 121 96


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