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

The results of neuroradiologic studies of 71 children with infantile spasms treated with ACTH were correlated with the developmental outcome at follow-up (mean 62 months, range 14 to 207 months). Fifty-two (73%) patients had an abnormal NRS on initial evaluation; 49% had cerebral atrophy, 18% had congenital anomalies, and 6% had hydrocephalus. Twenty patients were normal on initial clinical evaluation. At follow-up only the eight (40%) with normal NRS were normal. Twelve (60%) who had unexpected abnormalities on NRS were retarded at follow-up. CAT scanning is necessary to predict the developmental outcome in developmentally normal children with infantile spasm. Eight of nine patients with normal NRS in the early treatment group were developmentally normal at presentation and follow-up. Ten patients who were developmentally normal before spasms began, and had normal NRS but were in the late treatment group, were retarded at initial evaluation and follow-up. This finding suggests that early treatment of children who have a normal NRS and normal development at onset of spasm prevents mental retardation.
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PMID:The value of neuroradiology in infantile spasms. 627 22

We have previously mapped the gene coding for catalase to 11p13 by gene dosage analysis. Deletion of this chromosomal region causes aniridia, mental retardation, and predisposition to Wilms' tumor (WT). In the present study, 22 patients with various etiologic forms of WT and/or aniridia were investigated. The catalase (CAT) level and karyotype were examined in order to determine the linkage and the gene ordering on chromosome number 11 of the different loci involved. The CAT concentration was normal in the 19 cases without detectable chromosomal abnormalities.
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PMID:Catalase determination in various etiologic forms of Wilms' tumor and gonadoblastoma. 630 58

Gene dosage effects for catalase (CAT) were studied in two unrelated patients with an interstitial deletion involving 11p13 to determine precisely the sites of the genes for CAT and the Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad (WAGR) in the 11p13 band. Case 1 had the aniridia-Wilms tumor association, and case 2 showed the AGR triad. The karyotypes identified by high resolution banding techniques were 46,XY,del(11)(pter----p13::p11.11----qter) for case 1 and 46,XY,t(2;17)(q23;q25),del(11)(pter----p13::p11.2----qter) for case 2. In both cases, the distal breakpoints of the deleted chromosomes 11 appeared to have occurred on the middle portion of 11p13 (11p1305----p1306). The level of erythrocyte CAT activities in case 1 was reduced (47% of normal), while that in case 2 was normal. The results suggested not only that both the CAT and WAGR should be mapped to chromosome region 11p1305----p1306, but also that in this region the CAT locus is more distally placed than the WAGR locus. Because of the proximity of the two gene loci, assays of erythrocyte CAT may be useful to identify a submicroscopic deletion in some patients with sporadic aniridia and to predict a risk of developing Wilms tumor.
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PMID:Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306. 632 23

Two unrelated patients with clinical features of 11p13 deletion syndrome, 3 years old and 3 months old, are reported. The clinical features of the patients included mental retardation, aniridia, nystagmus, blepharophimosis, and genitourinary abnormalities. Both patients were apparently free from Wilms' tumor and gonadoblastoma. Prometaphase banding analyses revealed a 46,XY,del(11)(p1300p1500) karyotype in one patient and 46,XX,dir ins(11;2)(p13;q12q23) in the other. Catalase activities in the erythrocytes in the two patients were respectively 65% and 56% of those of normal controls, close to the expected values in hemizygosity of the catalase gene. These findings confirmed a close linkage of the gene for catalase and those for the aniridia--Wilm's tumor or gonadoblastoma complex.
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PMID:Chromosome abnormalities involving 11p13 and low erythrocyte catalase activity. 710 75

Correlations between the Clinical Adaptive Test/Clinical Linguistic Auditory Milestone Scale (CAT/CLAMS) and the Bayley Scales of Infant Development--Mental Scale (BSID) were examined in 61 infants and toddlers with suspected developmental delay. Highly significant correlations were found between the two instruments. Gender, race, and gestational age did not influence the relationship between CAT/CLAMS and BSID scores. The CAT/CLAMS was both sensitive (88%) and specific (67%) for mental retardation (BSID < 70). The CAT/CLAMS correlates with the BSID and can be used as an instrument for detecting cognitive delay.
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PMID:Clinical Adaptive Test/Clinical Linguistic Auditory Milestone Scale in early cognitive assessment. 768 74

Down's syndrome (DS) or trisomy 21 is the most common genetic cause of mental retardation. Development of the DS brain is associated with decreased neuronal number and abnormal neuronal differentiation, and adults with DS develop Alzheimer's disease. The cause of the neurodegenerative process in DS is unknown. Here we report that cortical neurons from fetal DS and age-matched normal brain differentiate normally in culture, but DS neurons subsequently degenerate and undergo apoptosis whereas normal neurons remain viable. Degeneration of DS neurons is prevented by treatment with free-radical scavengers or catalase. Furthermore, DS neurons exhibit a three- to fourfold increase in intracellular reactive oxygen species and elevated levels of lipid peroxidation that precede neuronal death. These results suggest that DS neurons have a defect in the metabolism of reactive oxygen species that causes neuronal apoptosis. This defect may contribute to mental retardation early in life and predispose to Alzheimer's disease in adults.
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PMID:Apoptosis and increased generation of reactive oxygen species in Down's syndrome neurons in vitro. 852 10

A large body of evidence that links alterations of chromosome 11p13 to tumor formation and various developmental disorders has been accumulated. To address the underlying genetic events it would be helpful to have a comprehensive gene map of the region, and this is most readily achieved by generating the complete genomic sequence. Building upon previous mapping and YAC contig analysis we have established a 3-Mb sequence-ready PAC contig. It was constructed by chromosome walking and independently verified by fingerprint analysis of individual clones. The contig starts from the catalase gene on the centromeric side and reaches beyond the PAX6 gene at the 11p13/p14.1 boundary. Additional smaller contigs on either side were identified, but still have to be linked up. The 3-Mb contig spans the central region of deletions encompassing 16 chromosomal breakpoints in patients with WAGR syndrome (Wilms tumor, aniridia, genitourinary malformation, mental retardation), and its construction is an important step in facilitating functional analysis of these genes.
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PMID:A sequence-ready 3-Mb PAC contig covering 16 breakpoints of the Wilms tumor/anirida region of human chromosome 11p13. 979 Jul 64

The Cognitive Adaptive Test/Clinical Linguistic and Auditory Milestone Scale (CAT/CLAMS), a neurodevelopmental tool for the cognitive assessment of infants and toddlers, correlates well with the Bayley Scales of Infant Development. In 1993 the Bayley Scales were revised and the second edition published (BSID-II). This study was designed to determine how well the CAT/CLAMS correlates with the BSID-II and its utility in identifying mild and severe cognitive impairment. Sixty-eight infants and toddlers (age range = 14-48 months), referred for suspected developmental delays, were administered the CAT/CLAMS and BSID-II and the results compared. The correlation between the two instruments was strong (r = 0.89, P<0.0001). The CAT/CLAMS was sensitive (81%) and specific (85%) for detecting overall cognitive impairment (BSID-II less than 70) and was even more sensitive (100%) and specific (96%) in detecting severe cognitive impairment (BSID-II less than 50). The physician using the CAT/CLAMS formulated a clinical impression of cognitive impairment that was sensitive (95%) and specific (84%) compared with formal psychologic testing. The CAT/CLAMS correlates well with the BSID-II. It is useful for detecting and quantifying mild and severe cognitive impairment. It permits the physician to formulate an accurate clinical impression of cognitive impairment consistent with possible mental retardation.
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PMID:CAT/CLAMS: its use in detecting early childhood cognitive impairment. 1103 82

Hypothalamic hamartomas are non neoplastic lesions that may cause precocious puberty with or without complex seizures, personality disorders and mental retardation. We report a 14 years old male that had a precocious puberty at the age of 11 and a prolonged episode of altered sensorium with automatism, that was diagnosed as a complex seizure. Physical examination showed a sexual development classified as Tanner stage III-IV, a height of 168 cm and a weight of 61 kg. Neurological examination was normal. A CAT scan showed a 13 x 13 x 9 mm mass in the suprasellar cistern, between the infundibulum and the brain stem, without exerting a mass effect over adjacent structures. It was diagnosed as an hypothalamic hamartoma.
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PMID:[Hypothalamic hamartoma causing precocious puberty: A case report]. 1177 45

Tissue accumulation of L-phenylalanine (Phe) is the biochemical hallmark of human phenylketonuria (PKU), an inherited metabolic disorder clinically characterized by mental retardation and other neurological features. The mechanisms of brain damage observed in this disorder are poorly understood. In the present study we investigated some oxidative stress parameters in the brain of rats with experimental hyperphenylalaninemia. Chemiluminescence, total radical-trapping antioxidant potential (TRAP), superoxide dismutase (SOD), catalase (CAT) and glutathione peroxidase (GSH-Px) activities were measured in the brain of the animals. We observed that chemiluminescence is increased and TRAP is reduced in the brain of hyperphenylalaninemic rats. Similar data were obtained in the in vitro experiments using Phe at various concentrations. CAT activity was significantly inhibited by Phe in vitro and in vivo, whereas GSH-Px activity was reduced in vivo but not in vitro and SOD activity was not altered by any treatment. The results indicate that oxidative stress may be involved in the neuropathology of PKU. However, further studies are necessary to confirm and extend our findings to the human condition and also to determine whether an antioxidant therapy may be of benefit to these patients.
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PMID:Experimental hyperphenylalaninemia provokes oxidative stress in rat brain. 1199 85


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