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

Molecular cytogenetics allows the identification of cryptic chromosome rearrangements, which is clinically useful in mentally retarded and/or dysmorphic individuals with normal results from conventional cytogenetics analysis. We report on a 3-year-old girl with mental retardation, growth deficiency, speech delay, and dysmorphic features including hypertelorism, upslanting palpebral fissures, midfacial hypoplasia, and posteriorly rotated ears. The G-banding analysis showed a 46,XX,t(3;8)(q26.2;p21.1)mat karyotype. However, her clinical features were suggestive of the 18q syndrome. Subtelomeric FISH analysis revealed a der(18) translocated material from chromosome 17. Array-based comparative genomic hybridization (array-CGH) with subtelomeric BAC and PAC clones confirmed the abnormality and refined the breakpoints to 18q22.3-qter and 17p13.2-pter (deletion of 8.5 Mb and duplication of 3.9 Mb, respectively). This case demonstrates the diagnostic utility of combining conventional cytogenetics with molecular chromosome analyses for the identification of subtle chromosome abnormalities.
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PMID:Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features. 1601 83

In 2-8% of patients with mental retardation, small copy number changes in the subtelomeric region are thought to be the underlying cause. As detection of these genomic rearrangements is labour intensive using FISH, we constructed and validated a high-density BAC/PAC array covering the first 5 Mb of all subtelomeric regions and applied it in our routine screening of patients with idiopathic mental retardation for submicroscopic telomeric rearrangements. The present study shows the efficiency of this comprehensive subtelomere array in detecting terminal deletions and duplications but also small interstitial subtelomeric rearrangements, starting from small amounts of DNA. With our array, the size of the affected segments, at least those smaller than 5 Mb, can be determined simultaneously in the same experiment. In the first 100 patient samples analysed in our diagnostic practice by the use of this comprehensive telomere array, we found three patients with deletions in 3p, 10q and 15q, respectively, four patients with duplications in 9p, 12p, 21q and Xp, respectively, and one patient with a del 6q/dup 16q. The patients with del 3p and 10q and dup 12p had interstitial rearrangements that would have been missed with techniques using one probe per subtelomeric region chosen close to the telomere.
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PMID:Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation. 1617 21

High-resolution array CGH utilizing sets of overlapping BAC and PAC clones ("tiling path") covering the whole genome is a powerful novel tool for fast detection of submicroscopic chromosome deletions or duplications. We describe the successful application of a submegabase resolution whole genome "tiling path" BAC array to confirm and characterize a de novo interstitial deletion of chromosome 15. The deletion has a size of 5.3 Mb and is located within chromosome band 15q14, distal to the Prader-Willi/Angelman region. The affected girl had a heart defect, cleft palate, recurrent infections, and developmental delay. In contrast to GTG banding, array CGH determined the exact number of deleted genes and thus allowed the identification of candidate genes for cleft palate (GREM1, CX36, MEIS2), congenital heart defect (ACTC, GREM1, CX36, MEIS2), and mental retardation (ARHGAP11A, CHRNA7, CHRM5).
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PMID:Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay. 1716 32

The clinical implementation of array comparative genomic hybridization has revolutionized the diagnosis of patients with syndromic or nonsyndromic mental retardation. Multiple studies of hundreds of patients with idiopathic mental retardation, and normal karyotype and/or subtelomeric testing using genome-wide microarray platforms with approximately 2000 to >30,000 (tiling-path) interrogating BAC/PAC probes have detected chromosome abnormalities in up to 17% of cases. Surprisingly, some of the pathogenic changes are mosaic and not detectable in conventional karyotyping. Commercially available genome-wide microarrays with >300,000 synthesized oligonucleotide probes enable higher resolution and sensitivity and will probably replace the BAC/PAC arrays in clinical laboratories.
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PMID:Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. 1746 74

Subtelomeric imbalances are a significant cause of congenital disorders. Screening for these abnormalities has traditionally utilized GTG-banding analysis, fluorescence in situ hybridization (FISH) assays, and multiplex ligation-dependent probe amplification. Microarray-based comparative genomic hybridization (array-CGH) is a relatively new technology that can identify microscopic and submicroscopic chromosomal imbalances. It has been proposed that an array with extended coverage at subtelomeric regions could characterize subtelomeric aberrations more efficiently in a single experiment. The targeted arrays for chromosome microarray analysis (CMA), developed by Baylor College of Medicine, have on average 12 BAC/PAC clones covering 10 Mb of each of the 41 subtelomeric regions. We screened 5,380 consecutive clinical patients using CMA. The most common reasons for referral included developmental delay (DD), and/or mental retardation (MR), dysmorphic features (DF), multiple congenital anomalies (MCA), seizure disorders (SD), and autistic, or other behavioral abnormalities. We found pathogenic rearrangements at subtelomeric regions in 236 patients (4.4%). Among these patients, 103 had a deletion, 58 had a duplication, 44 had an unbalanced translocation, and 31 had a complex rearrangement. The detection rates varied among patients with a normal karyotype analysis (2.98%), with an abnormal karyotype analysis (43.4%), and with an unavailable or no karyotype analysis (3.16%). Six patients out of 278 with a prior normal subtelomere-FISH analysis showed an abnormality including an interstitial deletion, two terminal deletions, two interstitial duplications, and a terminal duplication. In conclusion, genomic imbalances at subtelomeric regions contribute significantly to congenital disorders. Targeted array-CGH with extended coverage (up to 10 Mb) of subtelomeric regions will enhance the detection of subtelomeric imbalances, especially for submicroscopic imbalances.
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PMID:Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. 1866 43

There is evidence that alteration in plasma fatty acid composition may play a role in certain neurological disorders. This case control study was conducted to evaluate the association between plasma fatty acid levels and mental retardation in Korean children. Plasma phospholipid fatty acids, plasma lipids, dietary fatty acids and selected nutrients were measured in 31 mentally retarded boys (mean age 9.93 +/-1.5 yrs) and matched controls. Total plasma omega-3 fatty acids (Sigmaw3), docosahexaenoic acid (DHA) and high density lipoprotein (HDL) concentrations were significantly lower and the Sigmaomega-6/Sigmaomega-3 ratio was significantly higher in cases than in controls. The odds in favor of mental retardation increased by 69 % for each unit increase in the Sigmaomega-6/ Sigmaomega-3 ratio (adjusted odds ratio = 1.69, 95% CI = 1.25-2.29). Significant variation in plasma Sigmaomega-3 and the Sigmaomega-6/ Sigmaomega-3 ratio was explained by mental retardation and plasma HDL concentrations (45% and 37 % respectively). There was a significant inverse association between plasma DHA and mental retardation. For each unit increase in plasma DHA, odds of mental retardation decreased by 74 %. There was no significant difference in either total dietary fat or fatty acids intakes between cases and controls. The energy intake of cases was significantly higher than the controls. These results suggest that proportion of plasma Sigmaomega-3 fatty acids, particularly, DHA, and the Sigmaomega-6/ Sigmaomega-3 ratio are associated with mental retardation in children in this study.
Asia Pac J Clin Nutr 2009
PMID:Mental retardation is associated with plasma omega-3 fatty acid levels and the omega-3/omega-6 ratio in children. 1932 91

Toothbrush ingestion is rare and most cases are seen in anorexic or bilumic young women or associated with mental retardation or schizophrenia. We report a case of accidental swallowing of a toothbrush in a man with no such background psychiatric disorder. The toothbrush was impacted in the duodenum and could not be removed endoscopically. It was removed via a laparotomy and the patient made an uneventful recovery. The pathophysiology, presentation and various techniques reported for endoscopic removal have been reviewed. If endoscopic removal is not possible the toothbrush must be removed by operation, as spontaneous passage is unknown.
Pac Health Dialog 2010 Sep
PMID:An ingested toothbrush. 2171 40

It has been estimated that over 700 million people still do not have enough food to eat on a daily basis and that more than 2 billion are subsisting on diets that lack the essential vitamins and minerals required for normal growth and development and to prevent premature death and disabilites such as blindness and mental retardation. At the same time, millions more suffer from chronic diseases caused by excessive and unbalanced diets. At the International Conference on Nutrition (ICN), held in Rome in 1992 and sponsored by the Food and Agriculture Organization (FAO) and the World Health Organization (WHO) of the United Nations system, 159 nations endorsed a World Declaration that included recognition of the need for national plans of action for nutrition/national food and nutrition policies. Specific objectives that the delegates agreed should be achieved were a reinforcement of earlier goals agreed to at the World Summit for Children 1990. Political will is an essential prerequisite for successful national food and nutrition policies and plans. These must also be realistic, well-conceived and effective at all levels, especially where devolution is taking place. Over the last two decades there has been an evolution in the issues that policies address, as well as changes in the expectations of them. Virtually all countries have agreed to 'establish appropriate national mechanisms to prioritize, develop, implement and monitor policies and plans to improve nutrition within designated time-frames, based on national and local needs, and to provide appropriate funds for their functioning'. Worldwide, over 120 member states of the United Nations (UN) have finalized, strengthened or have under way, national plans of action for nutrition. The policy decisions being made in order to implement more of these plans over the remainder of the decade and beyond, are already providing invaluable experience and data. Evaluation should provide even more in the future.
Asia Pac J Clin Nutr 1998 Jun
PMID:Food and nutrition policy development. 2439 35

Sturge-Weber syndrome (SWS) (encephalotrigeminal angiomatosis) is a phakomatosis associated with port-wine stains of the face, seizures, mental retardation, and usually ipsilateral meningeal vascular malformations. The classic form affects leptomeninges, eyes, and face. Although the precise etiology and pathogenesis are unclear, the postulated defect is primary venous dysplasia with failure of the primordial embryonic venous plexus to regress. A spontaneous somatic mutation in fibroblast fibronectin gene expression in the vascular malformation may occur during embryonic development. Ocular involvement is characterized by conjunctival, episcleral, retinal, and choroidal vascular abnormalities. The vascular lesions have been inconsistently described as angiomas, hemangiomas, and vascular malformations. Based on the endothelial cellular activity, they can be considered vascular malformations (or port-wine stains), which never regress spontaneously. Congenital, developmental, and adult-onset glaucoma are often seen when the malformations involve the distribution of the first branch of the trigeminal nerve.Both mechanical and vascular causes have been proposed to account for the development of glaucoma. The mechanical theory is based on obstruction of aqueous outflow secondary to developmental anterior chamber angle abnormalities, and the vascular theory is based primarily on elevated episcleral venous pressure. Management of glaucoma in patients with SWS is often challenging and is aimed at controlling intraocular pressure and preventing progressive visual loss and blindness. It also carries an increased risk for surgical complications. This review summarizes the literature regarding the genetics, clinical features, and management of ocular complications of SWS with special focus on glaucoma.
Asia Pac J Ophthalmol (Phila)
PMID:Encephalotrigeminal Angiomatosis (Sturge-Weber Syndrome, Klippel-Trenaunay-Weber Syndrome): A Review. 2610 78


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