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

Cytogenetic and verbal studies were done on members of four families with non-specific X-linked mental retardation. Cytogenetic analysis was done using media 199 and GTG-banding; one family had a marker X with a fragile site in band Xq27 or 28. Preliminary results indicate variation of culture conditions can effect the frequency of the marker X. A generalized language disability was found which tended to concentrate in the areas of auditory reception, auditory sequential memory, visual closure and grammatic closure. Articulation errors involved the same sounds which are late in normal development and occur most frequently in both the general population and a Down syndrome population.
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PMID:Familial X-linked mental retardation, verbal disability, and marker X chromosomes. 45 4

A plaque reduction neutralisation test was utilised to determine the prevalence of antibodies to California group virus (LaCrosse subtype) among 612 moderately to profoundly retarded subjects resident in two Wisconsin state institutions. Neutralising antibodies were detected in the sera of fifty-one (8 per cent) of the subjects tested. Age and sex differences in antibody distribution were not significant. When sero-logical data correlated with clinical case history records, antibody was found in the sera of 13 per cent (24/188) of a group in which mental retardation (MR) was attributed to "presumed psychological causes" and in 8 per cent (12/158) of a group for which the aetiology of MR was "encephalopathy". In a group of 254 subjects with MR of unknown aetiology, none of the sixty subjects with cranial anomaly and only two of the ninety-five (2.1 per cent) subjects with Down's syndrome were positive for antibody to CEV, while thirteen of ninety-nine (13.1 per cent) subjects diagnosed as "other cerebral defects" had CEV antibody. In a majority of the subjects with CEV neutralising antibody, MR was attributed to perinatal influences.
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PMID:Relationship of California group virus infection and mental retardation: seroepidemiological observations. 48 Mar 42

A clinical and cytogenetic investigation carried out in a special institution for mentally retarded patients revealed 82 cases of oligophrenia, amongst whom were found 56 normal karyotypes (68.3%). Out of 25 karyotypes with chromosome anomalies or variants there were 18 cases of trisomy 21 and 7 others: one case of mosaicism with balanced translocation, 46,XX/46,XX,6p+,17q-; one case of partial trisomy, 46,XX,11q+; one case of pericentric inversion, 46,XY,inv(1) (p13,q21); one case with 8% chromosome breaks; three cases of marker chromosomes, of which one was of karyotype 46,XX,1qh+, and two (oligophrenic sisters) 46,XX,21p+. Moreover, there was an interesting case of testicular feminisation in a 9-year-old girl with karyotype 46,XY. The authors' results corroborate those obtained in several important previous studies based on much larger numbers of patients. Amongst the 56 cases where the karyotype was shown to be normal, there were 15 for whom a probably exogenic cause of the oligophrenia could be established, occurring mainly during the perinatal period. The authors were also able to confirm that the genetic factor plays an important role in the incidence of mental retardation, since in 22 examined patients, i.e. 26.8% of all cases, the condition was of familial type. Some interesting observations of idiopathic oligophrenia are reported, as well as several cases with well-known syndromes (Crouzon's and Cornelia de Lange's syndromes, hypothyroidism). Two cases of incest between father and daughter, which had produced children with serious oligophrenia associated, in one case, with deaf-mutism, microphthalmia, microcephaly and sclerocornea, are also discussed. The data show that mental retardation can frequently have a genetic cause, either of mendelian, chromosomal or multifactorial origin.
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PMID:[A clinical and cytogenetic investigation carried out in a special institution for mentally retarded patients: preliminary results concerning 82 cases of oligophrenia (author's transl)]. 102 53

The syndrome of trisomy 10q24leads to 10qter is described from three patients studied by the authors and five cases reported from the literature. The characteristic dysmorphy of the syndrome, although different from that of trisomy 21, nevertheless is reminiscent because of euroasiatic facies. The facies is broad, round, because of euroasiatic facies. The facies is broad, round, and flat, with a prominent malar region and a high and convex forehead. Palpebral fissures are narrow with bilateral epicanthal folds, and the nasal bridge is hypoplasitc. Marked joint laxity allows spontaneous and reductible subluxations. Growth retardation is the rule, and mental retardation is severe. No specific dermatoglyphic abnormalities are noted; there is a gap between the first and second toes, with a marked plantar crease separating them. Although trisomy 10q24leads to10qter results from various terminal translocations or pericentric inversion in one case, the location of the breakage point in band 10q24 suggests a particular lability of this zone.
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PMID:[Trisomy 10q24--10qter]. 108 88

The existence of a trisomy 22 has been definitely established by newer methods of karyotype analysis which permit distinction between the acrocentric chromosomes of group G. Trisomy 22 is much rarer than trisomy 21. This report presents presumptive evidence that the cat eye syndrome (CES), the so-called "trisomy 22" (T22), the intermediate cases (IM) with cardinal symptoms of CES and T22, and some cases of mental retardation with rather unspecific symptoms are variants of the same disease entity. For T22, CES and one abortive case the extra chromosome was clearly identified as number 22 chromosome with or without partial deletion of the long arm. An interesting and presently not fully understood feature of trisomy 22 is its frequent familial incidence.
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PMID:Trisomy 22. 116 80

To test the hypothesis of an altered central nervous system influence upon the immune system of Down's syndrome (DS) patients and in order to establish a peripheral biological marker of neuroimmune deficit, we have studied the characteristics of the beta 2-adrenergic receptor (B2AR) system in peripheral blood monocytes (PBMC) of 12 pre-pubertal (six boys and six girls) individuals and correlated alterations in binding with changes in distribution of lymphocyte subsets. Using the very potent beta-adrenergic antagonist, iodocyanopindolol ([125I]CYP), as a ligand, the present study shows that a typical BAR population of the beta 2-subtype is present in PBMC from DS children, with binding kinetics and structural specificity similar to those measured in PBMC from patients with other (non-genetic) forms of mental retardation, or in PBMC from age-matched healthy subjects. On the other hand, this study revealed a significant increase in B2AR binding capacity of PBMC from DS subjects (Bmax = 5258 +/- 470 sites/cell) compared to the values measured in the control population of retarded children (Bmax = 1965 +/- 280 sites/cell), characterized by an approximately three-fold increase in the Bmax, without changes in binding affinity (KD = 40.5 +/- 2.0 and 36.6 +/- 2.5 pM in DS and retarded patients, respectively). The flowcytometric analysis of lymphocyte subsets using a panel of monoclonal antibodies against a series of lymphocyte markers revealed a profound alteration in the distribution of lymphocyte subtypes with an almost 50% decrease in B cell and T-helper populations, a three-fold increase in T-cytotoxic suppressor, a seven-fold increase in lymphocyte-activated killer cells (LAK) and 30% increase in natural killer (NK) subpopulations. When fluorescence-labelled lymphocytes were visualized in the cytofluorograph and sorted for their use in the radioreceptor assay, B cells had approximately twice the number of B2AR when compared to T cells; and cytotoxic/suppressor showed a higher binding capacity compared to T-helper cells. On the other hand, labelled lymphocytes from DS patients showed a specific increase in receptor number in B cells, T-cytotoxic suppressor and NK subpopulations. It is concluded that a profound catecholaminergic dysfunction not previously appreciated in DS is reflected by a significant alteration in lymphocyte subset distribution and by a specific up-regulation of lymphocyte B2AR in phenotypically and functionally distinct T and B cells as well NK subpopulations, suggesting a possible denervation supersensitivity phenomenon.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Upregulation of lymphocyte beta-adrenergic receptor in Down's syndrome: a biological marker of a neuroimmune deficit. 131 20

The major concern of the national population policy in Taiwan in recent years has been to lower the incidence of hereditary diseases and mental retardation in the general population. It has been estimated that there are around 10,000 mentally retarded school children in Taiwan. If effective chromosomal screening can be extended to these children, some of the family members who are carriers of balanced chromosomal rearrangements may benefit from follow-up studies and genetic counseling. The present report is the result of a pilot study conducted from 1988 to 1991 to explore the possibility of chromosomal screening of mentally retarded school children in Taipei. A total of 871 blood samples were collected from 1,147 children registered in 46 schools or residing in homes for the retarded. Chromosomal analysis was successfully accomplished on 674 out of 871 blood samples. The following chromosomal abnormalities were observed: 28 Down's syndrome, four Klinefelter syndrome, one XYY, one triple X, 11 translocations, seven inversions, four mosaics, three duplications, one deletion and one with an extra marker chromosome. After follow-up cytogenetic analyses of 13 families with probands with structural chromosomal anomalies, three of these families were shown to have one or two carriers of balanced translocated chromosomes. It seems that the present screening system would not be practical or cost-effective if it were applied island-wide in the future.
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PMID:Chromosomal screening of mentally retarded school children in Taipei. 136 37

The Norwegian Government has decided to reform the care of the mentally retarded by placing the responsibility for medical and social care with the local authorities. From 1 January 1991 the mentally retarded are to be integrated into the community. Persons with Down syndrome constitute 20-30% of the mentally retarded in institutions. The syndrome is the most common single cause of mental retardation. It represent both a medical challenge and a challenge in regard to home support, work, leisure activities and habilitation. Habilitation means identifying the fundamental deficiencies, incorporating this knowledge into plans for treatment and evaluating progress in social functioning and individual capacity. This presentation emphasizes clinically important information about the syndrome and medical complications both in the early stage of life, and among youths and adults in particular. Owing to difficulties in communication, there are often diagnostic problems. However, when recognized, many of the complications can be treated effectively.
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PMID:[Down's syndrome. Medical care and rehabilitation]. 138 12

Etiology-specific profiles of intellectual abilities were compared in three groups of males with mental retardation using the Kaufman Assessment Battery for Children (K-ABC). Subjects included 10 males with fragile X syndrome, 10 with Down syndrome, and 10 with nonspecific mental retardation who were equated on both mental and chronological age. Across all three groups, sequential processing was lower than simultaneous processing or achievement, and particular subtests (e.g., Gestalt Closure) were relative strengths. Although boys with Down syndrome showed less extreme patterns of domain strengths and weaknesses, they showed a significant strength in the Sequential Processing Hand Movements subtest. In contrast, the Hand Movements subtest was lowest of all K-ABC subtests for males with fragile X syndrome. Implications were discussed for more fine-tuned research and intervention efforts.
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PMID:K-ABC profiles in children with fragile X syndrome, Down syndrome, and nonspecific mental retardation. 138 42

This study compared isokinetic arm (elbow flexion and extension) and leg (knee flexion and extension) strength of individuals with Down syndrome (DS), with mental retardation without DS (NDS), and sedentary young adults with no mental retardation (NMR). Eighteen individuals with DS, NDS, and NMR (11 men and seven women in each group) performed strength tests on a Cybex 340 isokinetic dynamometer. Parameters measured were peak torque (ft/lb), peak torque percent body weight (%BW), average power (watts), and average power %BW. Subjects with mental retardation (ie, DS and NDS groups) performed the test on two separate days with best test results chosen for statistical comparisons. The NMR group performed the test once. In all isokinetic strength parameters measured for arm strength, the NMR group demonstrated significantly higher scores than subjects with DS and NDS. Subjects with DS and NDS displayed similar test results. Similarly, for all the isokinetic strength parameters measured for leg strength, NMR demonstrated significantly higher scores than subjects with DS and NDS. Subjects with NDS, however, averaged significantly higher test results than subjects with DS for leg strength. The results of this study indicate that both subject populations who were mentally retarded exhibited lower arm and leg strength than the NMR subjects. Additionally, subjects with DS demonstrated inferior leg strength when compared to their peers with NDS.
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PMID:Isokinetic arm and leg strength of adults with Down syndrome: a comparative study. 138 22


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