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

We describe a new multiple congenital anomaly/mental retardation (MCA/MR) syndrome in chromosomally normal sibs. Both had microcephaly, a "coarse" face with synophrys, ear anomalies, type B brachydactyly, nail dysplasia, skeletal anomalies, dwarfism, and mental retardation. Their mother had nail dysplasia, mild mental retardation, and short stature. An uncle, a younger brother of the mother, died at 17 years of age and also had a "coarse" face, digital anomalies, dwarfism, and severe mental retardation. The malformation complex in this family apparently has not been described previously, and the manifestations of the patients do not correspond to those of any known malformation syndrome. The disorder may be attributable to the pleiotropic effect of an autosomal dominant or an X-linked semidominant gene.
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PMID:A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs. 233 12

The overall purpose of the study was to develop a screening instrument for the identification of developmental delay which could be administered entirely by parents. Reliability, concurrent and predictive validity was investigated in a Swedish population of 3,245 18-month-old children. The prevalence of mental retardation and learning disabilities implied by educational support provided in the regular school system was investigated in follow-up studies at 8 and 14 years. At 8 years, 20 children were administratively classified as mentally retarded. At 18 months they were among lowscorers or attrition cases. Among the remaining lowscorers 51.2% at 8 years and 26.6% at 14 years received special education in the normal school, i.e. were true positives. The rates of false negatives, i.e. children scoring normally at 18 months who received special education at 8 and 14 years, were 18.5% and 4.6% respectively. The prevalence of administratively classified mentally retarded was 0.62% at 8 years and 0.65% at 14 years. When the cases receiving special education in regular classes were added the prevalence figures were 2.1% at 8 years and 1.29% at 14 years. Apart from showing that parants can and will fill out a questionnaire on the developmental progress of their children that can be used for predictive purposes the study also points at the relatively inherent in the concept of mental retardation and true prevalence of especially mild mental retardation.
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PMID:Early identification and prognosis: parental developmental assessment of 18-month-old children. 245 39

The literature is replete with suggestions that patients with neurofibromatosis (NF) in general and von Recklinghausen NF (NF-1) in specific often manifest mild mental retardation. However, intellectual performance in NF-1 has only rarely been the subject of study in a comparatively uniform population; it has been reported mainly in the setting of case histories. In the present material, representing a population-based cohort of Gothenburg, Sweden, it was possible to assess intelligence levels in 71 of the 74 patients originally identified [Samuelsson B, Samuelsson S: Neurofibromatosis 1989;2:6-22]. Thirty-two of the seventy-one patients (45%) showed slight mental retardation and 2 of these were somewhat more retarded than the remainder. This slight mental retardation was usually recognized during the early school years; it did not appear to be progressive. While patients affected with this problem were placed in remedial or special classes in school, these patients generally did not acquire any vocational training. There is reason to suspect that NF-1 itself leads to some impairment of intellectual development in all patients, for the intellectual achievements of those whose intelligence was judged to be within the normal range appeared to fall short of the average. Non of the patients with normal intelligence had passed any academic examination and many showed achievements less than expected based on the achievements of their healthy relatives. In certain families, the NF appeared to be associated with mild mental retardation more than in other families. Mental retardation of a more severe degree, corresponding to special school level or lower, is not typical of NF-1.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Neurofibromatosis in Gothenburg, Sweden. II. Intellectual compromise. 251 60

In this study, a clinical evaluation was carried out for all patients who were at or beyond 20 years of age and known to the health services as cases of neurofibromatosis (NF) and who were resident in Gothenburg, Sweden, as of January 1, 1978. The approach of the study was clinical, with emphasis on the general somatic, psychiatric and genetic aspects of NF. The patients included in the study were ascertained by scrutiny of all available archives of medical records in the area, and by requests to every doctor in the city of Gothenburg to report any possible case of NF known to him or her. This search identified 74 patients with NF living in Gothenburg on the census day. All but 3 of these patients had definite von Recklinghausen NF (NF-1). This represents a prevalence of 1 case of NF in 4,600 adults, which must be considered a minimum frequency estimate. The 74 patients included 35 women with a mean age of 46 (+/- 17) years and 39 men with a mean age of 43 (+/- 14) years. The prevalence of NF was highest in the age range of 40-50 years, while it was significantly reduced in the ages above this range, most probably owing to an excess mortality. Sixty-nine of the original seventy-four patients were personally interviewed and examined, including the 3 without definite NF-1. The patients were classified according to the degree of severity of NF into three categories: mild, moderate and severe. The number of patients in each groups was, respectively, 18, 43 and 13. A detailed description of each patient's pigmentary abnormalities and neurofibromas (number, appearance and localization) was recorded. Findings of osseous dysplastic changes (12-16%), endocrine changes (pheochromocytoma, 3%), malignant disease (sarcoma, 4%), epilepsy (3%) and other somatic diseases were also recorded. Mild mental retardation was present in 45% of the patients. The mental retardation did not appear progressive, and severe retardation was not found. Mental illness occurred in 23 (33%) patients, defined as mild in 8, moderate in 7 and severe in 8. No uniform psychiatric syndrome was found. Depressive syndrome, anxiety state with vegetative dysfunction and organic brain syndrome were most frequently observed. Hostile feelings and autonomic disturbances were the most common symptoms, each found in 50% of all patients. The frequency of abnormal neurological findings, presumably indicating manifestations of NF-1 in the central nervous system, was significantly increased among the patients with mental illness.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Neurofibromatosis in Gothenburg, Sweden. I. Background, study design and epidemiology. 251 25

Two experiments extended earlier research showing age- and intelligence-invariance in memory for spatial location. Second and sixth graders, college students, and mildly retarded persons relocated pictures after looking through a 100-picture book. There were no differences due to age, IQ, or instruction (intentional or incidental) in location memory; there were differences in picture recall. In a second experiment persons with Down syndrome, as a group, were less accurate in location memory than were college students, but many individuals performed as accurately. A 3-month follow-up on the subjects with Down syndrome revealed greater consistency in location memory than in recall. Overall, the results show that young children and mildly mentally retarded persons process spatial location information as well as do college students. Some, but not all, of the more severely mentally retarded persons had deficits in processing memory for location. All persons with mental retardation had deficits in effortful processing as reflected by free recall.
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PMID:Memory for spatial location in children, adults, and mentally retarded persons. 252 25

This article presents a 4-year-old boy who suffered from weakness of the right extremities since birth. Physical examination revealed mild mental retardation and right spastic hemiplegia. No seizures were noted. A brain CT scan showed bilateral clefts along Sylvian fissures, more marked on the left side, which communicated with the lateral ventricle. The septum pellucidum was absent. There was an evident squaring of the frontal horns. The CT findings were consistent with the diagnosis of schizencephaly. When a patient with mental retardation and spastic hemiplegia or diplegia fails to show a history of perinatal cerebral insult, the possibility of schizencephaly should be considered. In that case, a brain CT scan is a rapid and accurate diagnostic tool.
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PMID:[Schizencephaly: report of one case]. 263

Five hundred children and adolescents affected by mild mental retardation were studied together with their families with regard to a number of psycho-social, medical and genetic factors. Statistical studies were performed with these data and showed that this apparently homogeneous population could in fact be divided into three subgroups. The first and by far the largest group (66%) was constituted by a clinically normal population but in whom adverse social and cultural factors were dominant. In the second subgroup (20%) the mental retardation was much more pronounced (IQ of 50----65) and the socio-cultural and socio-economic levels were particularly low. Finally, organic causes (prematurity, dystocic, labour, etc.) seemed to constitute the principal factor explaining the retardation observed in the third subgroup (14%). The second subgroup comprising of 50 children and their families, were observed more closely; in this group 20 cases of known genetic diseases were found.
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PMID:The geneticist and the so-called "socio cultural" familial mental retardation. 274 69

A 3-year-old girl, her mother, and maternal uncle had microcephaly and mental retardation. Their facial appearance is characterized by deep-set eyes, short philtrums, and a "beaked" nose. The mother and uncle live in an adult foster care facility because of mental retardation. The 3-year-old girl has a developmental quotient of 55. Mother has normal phenylalanine level and the child's chromosomes are normal. This appears to be a first report of a autosomal dominant form of microcephaly associated with mild to moderate mental retardation in contrast to absent or mild mental retardation described in earlier reports.
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PMID:Autosomal dominant microcephaly with mental retardation. 280 73

The discovery of the Fragile X (fra(X] syndrome represents a major advance in our understanding of mild mental retardation. This X-linked syndrome is the most common hereditary form of mental retardation. Recent estimates find that approximately 1/981 males and 1/677 females carry the fra(X) chromosome. The majority of affected males are moderate to severely retarded, but about 20% are mildly retarded and about 5% are borderline. Approximately 20% of males who inherit the fra(X) chromosome are termed non-penetrant; they do not express it cytogenetically and are of normal intellect. About 1/3 of carrier females show mental impairment and about 10% are mildly retarded. We have found evidence for genetic heterogeneity based on linkage analysis to flanking DNA probes. Some large families show tight linkage between fra(X) and the flanking probe F9, while others show loose linkage. Preliminary findings indicate the linkage heterogeneity may also be related to cognition: affected males in tightly linked families tended to be mildly retarded.
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PMID:Genetics and expression of the fragile X syndrome. 289 23

The first discovered exogenous teratogen causing mental retardation was rubella embryopathy described in 1940. Later, cytomegalic virus infection and toxoplasmosis during pregnancy and ionogenic radiation has been shown to cause embryofetopathies with concomitant mental retardation. Methyl mercury in high doses cause severe central nervous system pathology in both mothers and their fetuses. The fetal alcohol syndrome is now generally accepted as causing mostly mild mental retardation. Of therapeutic drugs, antiepileptics have been shown to carry a risk for the fetal antiepileptic syndrome complex. We have recently been able to describe fetal pathology following high intake of benzodiazepines during pregnancy.
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PMID:Prenatal factors including fetal alcohol syndrome. 289 25


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