Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 5-year-old boy with Williams syndrome received open reduction of fracture of the antebrachium twice. He had been diagnosed as having Williams syndrome with some characteristic symptoms, including elfin face, mental retardation and primary pulmonary hypertension. Williams syndrome has a tetrad of cardiovascular disease, elfin face, mental retardation and hypercalcemia. Operations were performed twice under general anesthesia. Airway management with mask technique was easily performed. Tracheal intubation was accomplished successfully. Anesthesia was induced with propofol, fentanyl, and vecuronium, and maintained with propofol, fentanyl and the inhalation of oxygen with nitrous oxide. Both anesthetic courses were uneventful and he was discharged without any complications. Special anesthetic considerations should be taken for difficulties of intubation, management of circulatory system, malignant hyperthermia, and hypercalcemia in this syndrome.
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PMID:[Two occasions of anesthetic management for a patient with Williams syndrome]. 1367 82

Most individuals with Williams syndrome (WS) have a 1.6 Mb deletion in chromosome 7q11.23 that encompasses the elastin (ELN) gene, while most families with autosomal dominant supravalvar aortic stenosis (SVAS) have point mutations in ELN. The overlap of the clinical phenotypes of the two conditions (cardiovascular disease and connective tissue abnormalities such as hernias) is due to the effect of haploinsufficiency of ELN. SVAS families often have affected individuals with some WS facial features, most commonly in infancy, suggesting that ELN plays a role in WS facial gestalt as well. To find other genes contributing to the WS phenotype, we studied five families with SVAS who have small deletions in the WS region. None of the families had mental retardation, but affected family members had the Williams Syndrome Cognitive Profile (WSCP). All families shared a deletion of LIMK1, which encodes a protein strongly expressed in the brain, supporting the hypothesis that LIMK1 hemizygosity contributes to impairment in visuospatial constructive cognition. While the deletions from the families nearly spanned the WS region, none had a deletion of FKBP6 or GTF2I, suggesting that the mental retardation seen in WS is associated with deletion of either the centromeric and/or telomeric portions of the region. Comparison of these five families with reports of other individuals with partial deletions of the WS region most strongly implicates GTF2I in the mental retardation of WS.
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PMID:GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region. 1455 46

The gene for TFII-I, a widely expressed transcription factor, has been localized to an interval of human chromosome 7q11.23 that is commonly deleted in Williams syndrome (WS). The clinical phenotype of WS includes elfin facies, infantile hypercalcemia, supravalvular aortic stenosis, hyperacusis and mental retardation. The WS cognitive profile (WSCP) is notable for the differential impairment of visual-spatial abilities with relative sparing of verbal-linguistic function. Fine mapping of individuals with WS has revealed a close association between deletion of TFII-I and the WSCP. To determine the plausibility of the hypothesis that hemizygous deletion of TFII-I contributes to the WSCP, we have examined the anatomic distribution of TFII-I RNA and protein isoforms in brains from adult and embryonic mice. Our studies show that early in development, TFII-I expression is widespread and nearly uniform throughout the brain. In adult brain, TFII-I protein is present exclusively in neurons. Highest levels of expression are observed in cerebellar Purkinje cells and in hippocampal interneurons. TFII-I immunoreactivity is distinct from that of the related protein, TFII-IRD1, which is also localized to the region of human chromosome 7 deleted in WS. The expression pattern of TFII-I in mouse brain parallels regions in human brain which have been shown to be anatomically and functionally altered in humans with WS. These observations are consistent with the hypothesis that deletion of the gene for TFII-I contributes to the cognitive impairments observed in WS.
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PMID:TFII-I, a candidate gene for Williams syndrome cognitive profile: parallels between regional expression in mouse brain and human phenotype. 1475 Dec 86

Williams-Beuren syndrome (WBS) is a genetic disorder characterized by a distinctive facial gestalt, mental retardation, mild growth deficiency, and cardiovascular disease. The occurrence of sudden death in the WBS is known from several case reports, but information about the risk of sudden death as derived from the data of a large cohort of patients is lacking. We analyzed the data of 293 WBS patients who had been treated for 43 years at the same two institutions. We thus collected 5,190 patient years without loss to follow-up. During this period ten patients died. Five of them died from: reticulosarcoma (1), after accident (1), heart failure (1), following heart surgery (2). Of the remaining five patients, four died suddenly and one died of unknown cause suggestive of sudden cardiac death. Thus, the incidence of sudden death in our WBS cohort amounts to 1/1,000 patient years. This risk of sudden death is comparable to that following surgery for congenital heart disease, and is 25-100-fold higher compared to the age-matched normal population.
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PMID:Risk of sudden death in the Williams-Beuren syndrome. 1515 Jul 72

It is currently thought that fragile X syndrome (FraX; the most common inherited form of learning disability) results from having more than 200 cytosine-guanine-guanine (CGG) trinucleotide repeats, with consequent methylation of the fragile X mental retardation (FMR1) gene and loss of FMR1 protein (FMRP). It was also considered that premutation carriers (with 55-200 CGG repeats) are unaffected, although a tremor/ataxia syndrome has recently been described in older adult male carriers. We reported that premutation expansion of CGG trinucleotide repeats affects brain anatomy, which, together with other studies, indicates that the molecular model for FraX needs modification. However, there are few studies on the cognitive ability of adult male premutation carriers. Thus, we selected 20 male premutation carriers on the basis of their genetic phenotype, and compared them to 20 male controls matched on age, IQ and handedness. We investigated intellectual functioning, executive function, memory, attention, visual and spatial perception, and language and pragmatics. The premutation carriers had significant impairments on tests of executive function (Verbal Fluency, Trail Making Test and Tower of London) and memory (Names sub-test of the Doors and People, Verbal Paired Associates Immediate Recall and Visual Paired Associates Delayed Recall sub-tests of the WMS-R, and Category Fluency Test for natural kinds). We therefore suggest that CGG trinucleotide repeats in the premutation range affect specific neuronal circuits that are concordant with specific neuropsychological deficits; and that these deficits reflect an emerging neuropsychological phenotype of premutation FraX.
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PMID:A neuropsychological investigation of male premutation carriers of fragile X syndrome. 1538 Oct 24

Age-associated changes on measures of episodic and working memory were examined in 15 adults with Williams Syndrome (WS; M age = 48.3 years, SD = 14.7; M IQ = 62.9, SD = 8.5) and their performance was compared to that of 33 adults with mental retardation (MR) with unspecified etiologies (M age = 54.2 years, SD = 8.9; M IQ = 61.7, SD = 6.5). Among the group with WS, older adults were significantly poorer than younger adults on the free recall task, a measure of episodic memory. Although this finding is consistent with normal aging, it occurred at a chronologically early age in adults with WS and was not found in their peers with unspecified MR. Although both groups showed small declines with age on a backward digit span task, a measure of working memory, for the group with WS the rate of decline on backward digit span was slower as compared to their performance on the free recall task. The findings from this study indicate a chronologically early and precipitous age-associated decrease in long-term, episodic memory in adults with WS.
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PMID:Age-associated memory changes in adults with williams syndrome. 1552 65

Williams syndrome (WS) is a rare congenital disorder with distinctive craniofacial features, cardiovascular abnormalities, mental retardation, and behaviour characteristics. The purpose of this study was to investigate the size and morphology of the sella turcica on profile cephalograms in a group of individuals with WS. The material consisted of radiographic cephalograms of 62 Norwegian children, adolescents, and adults with an age range of 4.7-44.4 years. The length, depth, and diameter of the sella turcica were measured and the mean values were compared with normal reference material from the Oslo University Craniofacial Growth Archive. In total, the two-dimensional size of the sella turcica in the WS group was smaller in length, depth, and diameter compared with the control group, but only occasionally reached a significance level of 5 per cent (Student's t-test). The morphology of the sella turcica was assessed and five different morphological types were identified; oblique anterior wall, extremely low sella turcica, sella turcica bridging, irregularity (notching) in the posterior part of the dorsum sellae, and pyramidal shape of the dorsum sellae. The occurrence of these morphological types was more frequent in the WS subjects compared with the reference material, except for sella turcica bridging, which was equally frequent. The females with WS had more dysmorphic sella turcicas than males. This study has demonstrated morphological aberrations in the sella turcica in Norwegian individuals with WS, which should be further elucidated in future research and combined with neurological andendocrinological investigations.
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PMID:Post-natal size and morphology of the sella turcica in Williams syndrome. 1565 71

Williams syndrome (WS) is a rare congenital neurodevelopmental disorder with distinctive facial features, cardiovascular abnormalities, short stature, mental retardation, and behaviour and cognitive characteristics. The aim of this study was to describe the neurocranial morphology and growth in a group of 62 individuals with WS. The neurocranium was analysed on lateral cephalograms and comparisons were made with neurocranial standards from longitudinal data derived from the Oslo University Craniofacial Growth Archive. The size and morphology of the neurocranium in WS subjects differed from controls. Females as a group showed greater differences than males. The posterior cranial base length was shorter in both WS males and females, and the anterior cranial base length was shorter in WS females whereas it was close to normal in the WS male group. The cranial base angle was, however, not different from the control groups. A flattening was seen in the superior aspect of the parietal bone in both WS males and females. In the posterior part of the neurocranium, the prominence of the occipital bone was larger than in the control groups, which was also reflected in a larger total length of the neurocranium. The thickness of the frontal and occipital bones was considerably greater than in the control group. The deviant size and morphology of the neurocranium in WS subjects was already established in the youngest age group and maintained throughout the observation period. The growth pattern of the neurocranium in WS subjects seemed to be similar to that of the control groups, except in a few individuals.
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PMID:Neurocranial morphology and growth in Williams syndrome. 1574 61

Williams Syndrome (WS) is a neurodevelopment disorder associated with a hemizygous deletion on chromosome 7. WS is characterized with mental retardation, severe visual-spatial deficits, relative language preservation, and excellent facial recognition. Distinctive auditory features include musical ability, heightened sound sensitivity, and specific patterns of auditory evoked potentials. These features have led to the hypothesis that the dorsal forebrain is more affected than the ventral. Previously, we reported primary visual area 17 abnormalities in rostral striate cortex, a region contributing to the dorsal visual pathway. Based on the dorsal-ventral hypothesis, and language and auditory findings, we predicted a more normal histometric picture in auditory area 41. We used an optical dissector method to measure neurons in layers II-VI of area 41 in right and left hemispheres of the same 3 WS and 3 control brains used in the area 17 study. There was a hemisphere by diagnosis interaction in cell packing density (CPD) in layer IV and in cell size in layer III between WS and control brains. Post hoc analysis disclosed in control brains, but not WS, a layer IV left > right asymmetry in CPD, and a layer III left < right asymmetry in cell size. WS brains showed more large neurons bilaterally in layer II and in left layer VI. Histometric alterations in area 41 were less widespread than rostral visual cortex. Also, there was less asymmetry in the WS brain. We interpret layers II and VI differences as reflecting increased limbic connectivity in primary auditory cortex of WS.
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PMID:Relative sparing of primary auditory cortex in Williams Syndrome. 1577 50

Williams syndrome is a rare disorder that was first described in 1961. It is thought to be caused by a microdeletion in the long arm of chromosome 7 at 7q11.23 and is a multisystem, congenital, and panethnic disorder characterized by a number of developmental and physical abnormalities, including congenital cardiovascular abnormalities, mental retardation and neurological features, growth deficiency, genitourinary manifestation, gastrointestinal and musculoskeletal problems, behavioral characteristics, craniofacial features, ophthalmologic features, and dental problems. We describe cases of children with Williams syndrome treated in the department of Pediatric Dentistry of the Hadassah School of Dental Medicine, Jerusalem, Israel. The different treatments rendered to these children are discussed followed by general remarks drawn from those treatments and from a literature review. We conclude that sedation can be helpful in the younger age group to reduce anxiety and uncooperative behavior during minimal dental treatments. Treatment under general anesthesia seems more appropriate for older children and adolescents. Special attention should be given to initial evaluation of these patients, especially because with age aortic stenosis tends to intensify, which together with the progressive renal impairment can escalate blood pressure elevation.
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PMID:Medical considerations in dental treatment of children with Williams syndrome. 1582 80


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