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PubMed1985

Variables related to body-weight status of mentally retarded adults.

Mentally retarded male and female adult subjects displayed mean body weights in excess of their ideal weights; excessive body weight of females was also apparent in comparison to normative data for the United States. Maintenance of appropriate weight appeared to be more likely in a controlled residential setting than in the natural home environment. These sex and environmental relationships could not be explained by medication and dietary programming differences, and age, race, and level of retardation were unrelated to body weight.

Adolescent↗
PubMed1978

Role of strategy in reading by mentally retarded persons.

Mentally retarded individuals who could read were tested on their ability to pronounce words and produce meaningful associates. Analyses of their responses indicated an overuse of a strategy of memorizing works as a way to recognize words in print and an inability to consider work meanings in terms of abstract referents. A comparison of these results with responses given by nonretarded children suggests that retarded persons use cognitive strategies that lead to inefficient reading and even interfere with the development of effective reading skills.

Adolescent↗
PubMed1983

Two-year follow-up study of discrimination learning by mentally retarded children.

Mentally retarded children were taught to discriminate the dimensions of a visual display using a matching-to-sample procedure that provided full verbal feedback of the reasons for successes and failures. A control group attempted the matching procedure but received no feedback. The trained subjects exhibited marked superiority in intradimensional transfer. Two years later, the trained subjects continued their advantage but to a lesser degree.

Adolescent↗
PubMed1993

Noticing of unexpected events by adults with and without mental retardation.

Adults without mental retardation commonly fail to notice nominally obvious aspects of naturalistic scenes (Becklen & Cervone, 1983). We replicated and extended this effect to adults with mild mental retardation. Adults with and without retardation viewed a 60-second videotape of an amateur basketball game. They were instructed to press a button whenever the ball was passed. At one point, a woman carrying an open umbrella walked bodily through the ongoing action. Becklen and Cervone found that only 35% of adults without retardation noticed this unexpected event and that noticing was not predicted by task performance prior to the woman's appearance. In the present study noticing rates for subjects without retardation were similar to those reported by Becklen and Cervone and noticing by subjects with mental retardation was at least as high. Task performance for subjects with mental retardation was significantly lower than that of subjects without retardation, but noticing was not predicted by task performance (prior to the unexpected event) for either group. Results were interpreted in the context of an ecological approach to attention.

Adolescent↗
PubMedDate not supplied

Linkage of nonspecific X-linked mental retardation to Xq21.31.

Mental retardation unassociated with the Fragile X syndrome accounts for up to 60% of patients with X-linked mental retardation. In this investigation, we report on a family with mild non-specific X-linked mental retardation (MRX) without other apparent phenotypic abnormalities. Linkage analysis on 27 relatives using 18 polymorphic markers spanning the X-chromosome demonstrated close linkage to DXYS1 with a peak LOD score of 2.14 at a theta of 0. Numerous families with various types of MRX have now been studied by other investigators using molecular genetic techniques. In addition to the family described in this report, a number of these have demonstrated linkage to the DXYS1 locus. These data suggest that a gene for mental retardation may exist in the region of DXYS1. Alternatively, this area of the X-chromosome may harbor multiple different but closely linked genes which cause the various types of MRX.

Adolescent↗
PubMed1988

Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation.

We report an extended family in which two brothers with a fragile X chromosome are mentally retarded while a third brother with the fragile site is both phenotypically and mentally normal. The study of six probes detecting restriction fragment length polymorphisms on either sides of the fragile site Xq27 confirmed that the fragile X regions inherited by these three brothers were identical from DXS102 to the telomere. These data highlight the heterogeneity of the fragile X syndrome, which is discussed in the framework of the different hypotheses previously proposed.

Child↗
PubMedDate not supplied

[Monogenic causes of nonspecific X-linked mental retardation molecular aspects].

Mental retardation (MR) is a symptom in a large group of clinical conditions and affects around 3% of the population. MR is divided into syndromic, if it is characterized by distinctive clinical features and nonspecific when mental retardation is the only defining manifestation. Although genetic causes of X-linked mental retardation (XLMR) are heterogenous and complex, recent findings have led to the identification of an increasing number of genes involved in these conditions. Eight genes involved in nonspecific X-linked mental retardation have been identified so far, including FMR2, GDI1, OPHN1, PAK3, ARHGEF6, IL1RAPL, TM4SF2, and FACL4. Four other MECP2, RSK2, ARX, ATR-X are involved in syndromic and nonspecific forms of MR. Recent research has shown that these genes encode for proteins involved in signaling pathways which regulate cytoskeleton organization, synaptic vesicle transport and establishment of connections between neuronal cells. These findings provide insight into the molecular mechanisms of crucial processes for the development of intellectual and cognitive functions.

Chromosomes, Human, X↗
PubMed2006

Patient and parent/guardian perspectives on the health care of adults with mental retardation.

Individuals with mental retardation and their parents/guardians have long been neglected in health care research. In this study we used a qualitative methodology to describe the experiences adults with mental retardation and their parents/guardians have with the delivery of primary care services. Semi-structured in-depth interviews were conducted with 12 adults who had mental retardation and 9 parents/guardians. The grounded theory approach was utilized to guide data collection and analysis. Findings suggest an overall positive experience with primary care services. Unique themes were identified that distinguished parent/guardian experiences from those of adults with mental retardation, who focused on immediate, concrete issues related to service delivery, whereas parents/ guardians focused on more peripheral or abstract issues related to the delivery of primary care.

Adolescent↗
PubMedDate not supplied

[The impact of sociofamilial factors on nutritional status in mentally retarded children].

INTRODUCTION: Mental retardation (MR) constitutes a clinical and social relevant condition accounting for 3% of the pediatric population. Studies focusing the repercussion or MR on nutritional status are scarce and, in occasions, have produced contradictory results. OBJECTIVE: To evaluate the nutritional status of mentally retarded children in our region, on the basis of the influence of sociofamilial factors, including details of diet and appetite. PATIENT AND METHODS: Our sample comprise 128 mentally retarded children (81 boys and 47 girls) aged 0 17 years. In all children a nutritional and social family environment questionnaires and a valuation of a series of nutritional and anthropometric variables were performed. A factorial analysis was carried out by means of the statistical package SPSS allowing the obtaining of 2 anthropometric factors (AF) and 3 biochemical factors (BF) that condensed the most information content. Results of the nutritional and sociofamilial questionnaire were correlated with biochemical and anthropometric factors. RESULTS: Score of the factor AF1 declined with declining quality of diet and appetite. Mean AF1 score was lowest among children from inland rural areas, intermediate among children from urban areas and highest among children of coastal areas. Age of the parents and number of brothers also influenced the value of AF1 score. Score of AF1 was not significantly affected, however, by social class. Quality of diet, appetite, geographic origin, number of brothers an age of the parents showed a similar influence on BF1. Moreover, the score of BF1 declined with declining socioeconomic status. CONCLUSIONS: Feeding behaviour has a significant influence on nutritional status both in biochemical and anthropometric parameters, so it must be promptly evaluated in mentally retarded children. Biochemical parameters were the most influenced by variation of socioeconomic status. Children from coastal areas showed the highest scores of nutritional parameters. Age of the parents significantly influenced the nutritional state.

Adolescent↗
PubMed2002

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

Mental retardation and epilepsy often occur together. They are both heterogeneous conditions with acquired and genetic causes. Where causes are primarily genetic, major advances have been made in unraveling their molecular basis. The human X chromosome alone is estimated to harbor more than 100 genes that, when mutated, cause mental retardation. At least eight autosomal genes involved in idiopathic epilepsy have been identified, and many more have been implicated in conditions where epilepsy is a feature. We have identified mutations in an X chromosome-linked, Aristaless-related, homeobox gene (ARX), in nine families with mental retardation (syndromic and nonspecific), various forms of epilepsy, including infantile spasms and myoclonic seizures, and dystonia. Two recurrent mutations, present in seven families, result in expansion of polyalanine tracts of the ARX protein. These probably cause protein aggregation, similar to other polyalanine and polyglutamine disorders. In addition, we have identified a missense mutation within the ARX homeodomain and a truncation mutation. Thus, it would seem that mutation of ARX is a major contributor to X-linked mental retardation and epilepsy.

Amino Acid Sequence↗
PubMed2002

Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation.

Fragile-X mental retardation is the commonest form of inherited mental retardation. We have studied 146 Indian patients (174 X chromosomes) with unexplained mental retardation by molecular methods. All study subjects were unrelated. Three of the 118 males were found to have the FMR1 full mutation. None of the patients tested were positive for the FMR2 full mutation. The Fragile X prevalence was 2.5% among males, which is lower than previously reported in Indian mentally retarded patients. Screening for Fragile X among patients with nonspecific mental retardation is important, even if there is no family history of mental retardation or typical behavioral or physical features associated with the Fragile-X phenotype. Identification of positive cases is also very important for the families, because of the high recurrence risk of the disease. Large multicenter screening programs with uniform criteria would be worthwhile to determine the prevalence of Fragile-X mental retardation in the Indian population.

Female↗
PubMed2002

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.

X-linked mental retardation (XLMR) is an inherited condition that causes failure to develop cognitive abilities, owing to mutations in a gene on the X chromosome. The latest XLMR update lists up to 136 conditions leading to 'syndromic', or 'specific', mental retardation (MRXS) and 66 entries leading to 'nonspecific' mental retardation (MRX). For 9 of the 66 MRX entries, the causative gene has been identified. Our recent discovery of the contiguous gene deletion syndrome ATS-MR (previously known as Alport syndrome, mental retardation, midface hypoplasia, elliptocytosis, OMIM #300194), characterized by Alport syndrome (ATS) and mental retardation (MR), indicated Xq22.3 as a region containing one mental retardation gene. Comparing the extent of deletion between individuals with ATS-MR and individuals with ATS alone allowed us to define a critical region for mental retardation of approximately 380 kb, containing four genes. Here we report the identification of two point mutations, one missense and one splice-site change, in the gene FACL4 in two families with nonspecific mental retardation. Analysis of enzymatic activity in lymphoblastoid cell lines from affected individuals of both families revealed low levels compared with normal cells, indicating that both mutations are null mutations. All carrier females with either point mutations or genomic deletions in FACL4 showed a completely skewed X-inactivation, suggesting that the gene influences survival advantage. FACL4 is the first gene shown to be involved in nonspecific mental retardation and fatty-acid metabolism.

Amino Acid Sequence↗
PubMed1984

Risk factors of dental caries in 9-10-year-old mentally retarded Finnish children.

Mentally retarded children from one age cohort and their randomly selected controls in one Finnish county were examined for standard of oral hygiene, and their parents and nurses interviewed for information on dental health habits and for other relevant background information. The mentally retarded consumed sugar containing products less frequently than the mentally normal controls. Toothbrushing and fluoride supply was also less common in the retarded than in the healthy. Among the retarded, the dental health habits were most favorable in registered outpatients and least favorable in administratively unknown retarded not included in special welfare. Differences in dental health habits between these subgroups of the retarded were large. In contrast to the findings in the healthy children, frequency of toothbrushing was not associated with the observed standard of oral hygiene in the mentally retarded. The toothbrushing subgroup of the mentally retarded consumed sugar more frequently than the toothbrushing healthy children and commonly used drugs which reduced saliva flow or promoted gingival hyperplasia.

Child↗