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

Down's syndrome is the commonest cause of mental retardation worldwide. In Nigeria, persons with Down's syndrome remain largely stigmatised and neglected. There is a dearth of literature on the ocular health status of Nigerian subjects with Down's syndrome. To determine the ocular health status of Nigerian subjects with Down's syndrome in 4 special schools in Benin City, Nigeria, one hundred and forty four subjects with Down's syndrome had external ocular examination, visual acuity testing and Ophthalmoscopy in a school setting. Majority of the subjects had poor visual acuity of 6/18 or worse (59.0%), in at least one eye. There was a high incidence of refractive errors. Hyperopia was present in 29.2% of subjects; Astigmatism 22.2%; Myopia 6.3%; Strabismus 18.1%; Nystagmus 4.2% and cataracts in 2.8%. Liberal early use of corrective lenses is advocated in persons with Down's syndrome. Community based enlightenment programmes to encourage parents of children with Down's syndrome to bring their children for ocular examination early, preferably in infancy, and to enrol the children in a continuous ocular screening programme need be put in place. This will go a long way in improving their intellectual abilities, quality of life and life expectancy.
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PMID:Ocular health status of subjects with Down's syndrome in Benin City, Nigeria. 1731 46

To evaluate whether nystagmus has clinical significance in psychiatric patients who have functional and/or organic brain dysfunction. We performed gaze, positional and positioning nystagmus tests on 227 patients with psychiatric diseases (144 men, 83 women, with an average age +/- SD of 62.5 +/- 14.0 years) in order to evaluate the frequency and characteristics of nystagmus. Patients were classified according to the underlying disease. Normal control subjects were 107 subjects (26 men, 81 women, with an average age +/- SD of 35.6 +/- 10.0 years). Nystagmus was observed in 56 (24.7%) of 227 cases. Nystagmus was seen in 16 (59.3%) of 27 cases of alcoholism, 14 (22.2%) of 63 cases of organic psychiatric disorders, 25 (20.2%) of 124 cases of schizophrenia, 1 (20.0%) of 5 cases of excited mental retardation, 0 (0.0%) of 7 cases of mood disorders, 0 (0.0%) of 1 case of anxiety disorders and 1 (0.9%) of 107 subjects of normal control. There was a significant difference between psychiatric diseases and normal control. These results indicate that nystagmus may also be a very important clinical finding not only in patients with neurological and neuro-otological diseases, but also in patients with psychiatric diseases.
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PMID:Nystagmus using video-oculography in psychiatric patients. 1900 80

Mutations of the calcium/calmodulin-dependent serine protein kinase (CASK) gene have recently been associated with X-linked mental retardation (XLMR) with microcephaly, optic atrophy and brainstem and cerebellar hypoplasia, as well as with an X-linked syndrome having some FG-like features. Our group has recently identified four male probands from 358 probable XLMR families with missense mutations (p.Y268H, p.P396S, p.D710G and p.W919R) in the CASK gene. Congenital nystagmus, a rare and striking feature, was present in two of these families. We screened a further 45 probands with either nystagmus or microcephaly and mental retardation (MR), and identified two further mutations, a missense mutation (p.Y728C) and a splice mutation (c.2521-2A>T) in two small families with nystagmus and MR. Detailed clinical examinations of all six families, including an ophthalmological review in four families, were undertaken to further characterise the phenotype. We report on the clinical features of 24 individuals, mostly male, from six families with CASK mutations. The phenotype was variable, ranging from non-syndromic mild MR to severe MR associated with microcephaly and dysmorphic facial features. Carrier females were variably affected. Congenital nystagmus was found in members of four of the families. Our findings reinforce the CASK gene as a relatively frequent cause of XLMR in females and males. We further define the phenotypic spectrum and demonstrate that affected males with missense mutations or in-frame deletions in CASK are frequently associated with congenital nystagmus and XLMR, a striking feature not previously reported.
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PMID:CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. 2002 58