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PubMed1990

Contribution of ocular examination to the diagnosis of foetal alcohol syndrome in mentally retarded children.

An ophthalmological study was conducted on a series of 28 Swedish children suffering from mild mental retardation without an obvious aetiological diagnosis. The eye examination supported a diagnosis of foetal alcohol syndrome in five out of six suspected cases and revealed two additional not previously suspected (25%). Eye anomalies were observed in 16 patients (57%) with fundus abnormalities (optic nerve hypoplasia, retinal dystrophy) being most frequent, occurring in 11 cases (39%). Four patients had substantially reduced visual acuity in both eyes. Eight children had abnormal features of the face and outer eye region. Ocular motility disturbances (strabismus or nystagmus) were seen in five patients. The ophthalmological study disclosed that at least 10% of this group of children with mild mental retardation suffered from the foetal alcohol syndrome. It is concluded that, in children with mental retardation, an ocular examination is a valuable diagnostic tool for revealing prenatal origin.

Child↗
PubMed1985

Comparison of self- and peer-perceptions of mentally retarded children.

The self- and peer-perceptions of 40 mentally retarded children (mental ages 6 yr. to 12 yr.) were compared. Age differences were not obtained. Affective reports of likes and dislikes predominated the self-perceptions. Situational, external descriptions of behavior characterized the peer perceptions. These qualitative results are similar to the self- and peer-perceptions of nonretarded children.

Child↗
PubMed1997

Social skills training for adults with mental retardation in job-related settings.

The authors discuss the rationale for social skills training for workers with mental retardation, definitions and behavioral standards of these skills, and differences in the interaction patterns between workers with and without mental retardation. Various intervention strategies were reviewed critically, and their strengths and limitations were examined. Based on these analyses, the following recommendations are made. First, trainees' environments of ultimate functioning should be considered and contextual variables assessed and used. Second, social validation should be conducted to identify the social behavior that needs to be trained. Third, some procedures that have been found effective in other areas might be used for social skills training for persons with mental retardation in job-related settings. Fourth, active programming should be included in the intervention package for trainees to generalize and maintain the acquired social skills.

Adolescent↗
PubMed1992

Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11.

A new type of non-specific X linked mental retardation is described in a three generation family. The three affected males had severe mental retardation (IQ 20 to 30), mutism, growth failure, frequent infections, seizures, and the following minor anomalies: brachycephaly, frontal hair whorl, square face, large mouth, thick lips, and prognathism. There was not a characteristic facies. Normal laboratory studies on the proband included a karyotype with fragile X screening, skeletal survey, blood amino acid, urine organic acid, and HGPRT levels. Linkage analysis was performed with 10 X chromosome DNA probes of which probe DXS255 at chromosomal region Xp11.22 gave a maximal two point lod score of 2.10 if phase was inferred and 1.20 if it was not. Crossovers were shown with probes mapping to regions Xp22, Xp21, and Xq28. Comparison of these patients with 80 X linked causes of mental retardation, including 41 which might be classified as 'non-specific', showed no other disorders compatible with the phenotypic and linkage data.

Abnormalities, Multiple↗
PubMed1980

Organizational effects on mentally retarded adults: a longitudinal analysis.

Normalization has gained wide acceptance as a goal that residential institutations for the mentally retarded should strive to achieve, but many organizations have been shown to have difficulty achieving the goal. Theories developed from the organizational contingency perspective suggest that organizations with bureaucratic structures will have particular difficulty accomplishing the nonroutine tasks associated with normalization. Our major purpose was to test the usefulness of such theories for the evaluation of mental retardation facilities by ascertaining whether a less bureaucratic organization for the mentally retarded would achieve greater success than a more bureaucratic organization. The closing of a large public hospital and the subsequent transfer of most of its residents to two new facilities (one of which was more bureaucratic than the other) allowed us to examine bureaucracy's effect on treatment. As predicated, the analysis showed that the less bureaucratic organization produced a greater average positive change in behavior than did the more bureaucratic organization. A number of clinical and demographic characteristics of the residents which could have influenced the observed changes in behavioral level were identified and controlled. They were not found to explain the differences between facilties. Other factors, which could not be controlled in this study, provide suggestions for future research.

Analysis of Variance↗
PubMedDate not supplied

Fears of youth with mental retardation: psychometric evaluation of the Fear Survey Schedule for Children-II (FSSC-II).

The nature and development of normal fear, although widely researched within the general population, has been seriously neglected for individuals with mental retardation. The present study involves the psychometric evaluation of the Fear Survey Schedule for Children-II with two samples: 187 children and adolescents with mental retardation and 372 intellectually average students. The schedule was demonstrated to have sound psychometric properties for both samples including good internal consistency and high retest reliability. Sound validity indices were determined by examining the relationships of fear scores with state, trait, and manifest anxiety scores. Comparison of the two samples yielded significant differences. In particular, students with mental retardation were found to score significantly higher than the comparison sample. In contrast to the age-related decrease in fear found for students of average intelligence, those with mental retardation did not demonstrate a decrease in self-reported fear with age. Gender differences were consistent across both samples with females reporting higher levels of fearfulness and a greater number of fears than males.

Adolescent↗
PubMed1987

Foundation care: a treatment model for nonambulatory profoundly mentally retarded persons.

Two treatment models, Intermediate Care Facilities for the Mentally Retarded (ICF/MR) and Foundation Care, were compared with respect to their use in the institutional treatment of nonambulatory profoundly mentally retarded persons. Foundation Care is focused on physical and social environmental components of caregiving through emphases on health, nourishment, nurturance, stimulation, and play, with the goal of habilitation. Subjects were randomly assigned to the treatment models. We hypothesized that when compared to ICF/MR, the Foundation Care unit would use more resident-oriented management practices, have different caregiver resident interaction, and have residents who would exhibit more behavioral complexity. Baseline, 6-month, and 1-year measurements were made. Results supported the first and third hypotheses. Caregiver resident interaction was similar for both groups; however, Foundation Care staff used more tactile modalities and contingent interaction. We conclude that Foundation Care may be an appropriate alternative level of care for the nonambulatory profoundly retarded person.

Adult↗
PubMed1997

Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes.

Fragile X syndrome, a leading cause of inherited mental retardation, is attributable to the unstable expansion of a CGG-repeat within the FMR1 gene that results in the absence of the encoded protein. The fragile X mental retardation protein (FMRP) is a ribosome-associated RNA-binding protein of uncertain function that contains nuclear localization and export signals. We show here detailed cellular localization studies using both biochemical and immunocytochemical approaches. FMRP was highly expressed in neurons but not glia throughout the rat brain, as detected by light microscopy. Although certain structures, such as hippocampus, revealed a strong signal, the regional variation in staining intensity appeared to be related to neuron size and density. In human cell lines and mouse brain, FMRP co-fractionated primarily with polysomes and rough endoplasmic reticulum. Ultrastructural studies in rat brain revealed high levels of FMRP immunoreactivity in neuronal perikarya, where it is concentrated in regions rich in ribosomes, particularly near or between rough endoplasmic reticulum cisternae. Immunogold studies also provided evidence of nucleocytoplasmic shuttling of FMRP, which was localized in neuronal nucleoplasm and within nuclear pores. Moreover, labeling was observed in large- and small-caliber dendrites, in dendritic branch points, at the origins of spine necks, and in spine heads, all known locations of neuronal polysomes. Dendritic localization, which was confirmed by co-fractionation of FMRP with synaptosomal ribosomes, suggests a possible role of FMRP in the translation of proteins involved in dendritic structure or function and relevant for the mental retardation occurring in fragile X syndrome.

Animals↗
PubMed2004

Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.

Three families with X-linked mental retardation caused by a 24 base-pair duplication in ARX[428-451dup(24 bp)] are reported. The clinical features in these and six other published families are reviewed. In general, the clinical picture is variable. Mental retardation ranges from mild to severe. Infantile spasms (West syndrome) occurred in 12.5% and other less severe forms of seizures in 37.5%. Characteristic dystonic movements of the hands were seen in 63% and dysarthria in 54%. The focal dystonia, in association with mental retardation, may prove to be diagnostic of this mutation.

Adult↗
PubMed1984

[Autoaggressive behavior of the mentally retarded--results of a survey].

An initial mail survey in Sweden has shown that, roughly, at least 4 percent of all mentally retarded persons display self-abusive behaviour. Those concerned usually are severely or profoundly mentally retarded, and the autoaggressive behaviour occurs very frequently, in most instances daily. Almost three quarters of self-abusing retarded persons live in institutional settings, such as special hospitals or residential homes for the mentally retarded. The age distribution found in the self-abusing population deviates substantially from the expected distribution. Life expectancy seems reduced. Gender-specific differences have not been found. A social-psychological care approach (empathy, improved life conditions, meaningful activities, systematic behavioural modification) may have an alleviating, or even remedial, influence.

Adolescent↗
PubMed1998

Prevalence of chronic medical conditions in adults with mental retardation: comparison with the general population.

We interviewed caregivers and reviewed medical records of 278 adults with mental retardation with and without Down syndrome, 45 to 74 years of age. Standardized morbidity ratios were used to compare frequency of medical disorders in these adults to frequency in the general population. In adults with mental retardation, the frequency of common age-related disorders was comparable to that in the general population, but there was an increased frequency of thyroid disorders, nonischemic heart disorders, and sensory impairment. Surveillance of health status and increased access to health care for screening and treatment of age-related disorders that are more frequent in adults with mental retardation would be important to prevent the development or delay the impact of these conditions and to promote healthy aging.

Adult↗
PubMed2003

Nutritional status of mentally retarded children in north-west Spain. I. Anthropometric indicators.

AIM: To evaluate the nutritional status of mentally retarded children in the region of Galicia in north-west Spain, on the basis of anthropometric variables. METHODS: The following variables were determined in a sample of 128 mentally retarded children (81 M, 47 F): birthweight, bodyweight, height/length, head circumference, mid-arm circumference, mid-arm muscle circumference, triceps skinfold thickness, subscapular skinfold thickness, arm area, arm muscle area, arm fat area, arm lean-to-fat ratio, Shukla's nutrition index and Quetelet's body mass index (BMI). A preliminary statistical analysis indicated that most information content could be maintained considering only eight of these variables. A factor analysis of the resulting 8 x 128 (variables by subjects) data matrix was performed, identifying two factors (FA1 and FA2) that together explained 82% of total variance. Taking these factors as indicators of nutritional status, the data were analysed for possible effects of age, gender, socioeconomic and family environment, intelligence quotient (IQ), presence/absence of cerebral palsy, quality of diet, appetite and antiepileptic use. RESULTS: The analysis suggested that most subjects were in the normal nutrition range, but about 33% showed either borderline or definite malnutrition. Mean score on FA2 showed a significant negative correlation with age. Children with cerebral palsy had lower mean scores on both factors, and scores on both factors varied with IQ. Children with definite malnutrition had a significantly lower IQ than those in the normal nutrition range. Mean score on both factors varied with appetite and quality of diet. The mean FAI score of children from inland-rural areas was significantly lower than that of children from coastal or urban areas. Mean FA1 score increased with increasing age of the parents. The prevalence of obesity was 13% when obesity was defined on the basis of Shukla's nutrition index, and 19% when defined on the basis of FA1 score. CONCLUSION: Malnutrition as revealed by anthropometric variables occurs with a high prevalence among mentally retarded children. The prevalence increases with age, increasing IQ deficit and cerebral palsy.

Adolescent↗
PubMed2004

Ex-post-facto analysis of competitive employment outcomes for individuals with mental retardation: national perspective.

Disparities in proportions of competitive job placements and provision of vocational rehabilitation services by level of mental retardation were identified for 28,565 individuals. Chi-square results reveal that consumers with mild mental retardation are significantly more likely to achieve competitive jobs compared to those with more severe levels. Logistic regression indicated that the odds of achieving a competitive job for consumers receiving job placement services, business/vocational training, and counseling were nearly two times that of individuals not receiving such services. Findings suggest that a significantly lower proportion of these services were provided to consumers with severe/profound mental retardation. Implications of findings for service, research, and policy are discussed.

Competitive Behavior↗
PubMed1999

[A comparative study of the evolution of caries in mentally retarded subjects of 5 years' duration].

OBJECTIVE: To study the evolution of caries in two groups of mentally retarded individuals. DESIGN: Longitudinal, prospective, non randomized study, with a five-years follow-up period, with intervention and control groups. SETTING: Community trial. Primary health care centre in Martorell. SUBJECTS: Mentally retarded individuals attending a workshop school (intervention group, N = 29) and living in a boarding school (control group, N = 25). INTERVENTION: One group was on a program of prevention and treatment of caries, the other one received the usual care and acted as a control group. MEASUREMENT AND MAIN RESULTS: The number of absent, filled and caries teeth were studied from 1992-1997. An analysis of the variance with repeated measures was carried out. The groups were comparable for most demographic characteristics and basal odontological parameters. While in the control group the number of caries increased (mean92 = 2.2; standard error [SE] = 0.5); mean97 = 3.3; SE = 0.5; p = 0.03) in the intervention group it did not change (mean92 = 1.8: SE = 0.4; mean97 = 1.7; SE = 0.2; p = 0.73). The variation over time was significantly different between the groups (p = 0.03). The mean of filled teeth increased in the intervention group (mean92 = 0.7; SE = 0.4; mean97 = 2.2; SE = 0.4; p < 0.0001) and it did not change in the control group (mean92 = 1.2; SE = 0.5; mean97 = 1.4; SE = 0.6; p = 0.48). There were statistical significant differences between the two groups in the variation over time (p = 0.017). CONCLUSIONS: Preventive and curative odontological intervention in mentally retarded individuals can be useful to improve the evolution of caries.

Adult↗
PubMed1979

Mentally retarded children and young people in Sweden. Integration into society: the progress in the last decade.

The services for the mentally retarded follow the principle of normalization, with integration as the most important means towards achieving this goal. A total of 0.44% of the population are mentally retarded. This number is decreasing. Only 23% of these are midly mentally retarded. The number living in different forms of institutions, is given by age and grade of retardation as well as the number of integrated school classes, and the changes in these respects since 1970 are described.

Adaptation, Psychological↗
PubMed1998

Mental retardation and decision making: balancing autonomy and protection.

Balancing autonomy with protection in caring for patients with mental retardation remains a formidable task for many clinicians. Though historical debate has resulted in an attitude supporting increased autonomy for all patients generally, and in legislation for enhanced decision making for the developmentally disabled specifically, the operationalization of such attitudes and policies lacks sufficient attention in the literature. The authors discuss three important areas of decision making as these relate to the care of patients with mental retardation: competence, respect, and multiple stakeholders; and, offer recommendations in each area to provide clinicians with some guidance in balancing the goals of autonomy and protection in clinical care when treating people with mental retardation.

Adult↗
PubMed2004

Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome?

Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome?: We report on two sibs, a boy and a girl, with syndromic brachydactyly type E. Parents were first cousins. Facial dysmorphia was characterized by a flat occiput, a large forehead, hypertelorism, a long triangular nose, an everted lower lip, downslanting palpebral fissures and strabismus. They had marked shortening of the third, fourth and fifth fingers and of the third, fourth, and fifth toes. IQ was 16 in the boy, 63 in the girl. In both sibs ophtalmologic examination showed strabismus, absence of cataract and normal fundus and radiological findings disclosed increased bone density involving the skull, the vertebrae and the corticalis of the long bones. Neither ectopic calcifications, nor exostosic, nor osteomalacia, and nor osteotis fibrosa cystica were present. Investigations revealed that plasma calcium, phosphate, vitamine D, parathyroid hormone (PTH), response to exogenous PTH, and Gs activity were normal as well as renal and thyroid function. Molecular genetic studies failed to identify mutations in the GNAS 1 gene, in the PTH receptor gene and in the HOX D13 gene. Analysis of 2q showed that there was no deletion 2q37. Other known syndromes with brachydactyly type E and mental retardation were excluded. In conclusion we suggest that these two sibs with a combination of brachydactyly, mental retardation and increased bone density have a specific autosomal recessive syndrome.

Adult↗
PubMed1996

Chorioretinal dysplasia-microcephaly-mental retardation syndrome: another family with autosomal dominant inheritance.

We describe a boy and his father with the chorioretinal dysplasia-microcephaly-mental retardation syndrome (CDMMS). Our report extends the phenotypic spectrum of autosomal dominant CDMMS by describing microphthalmia for the first time in an autosomal dominant family. The boy was also severely mentally retarded in contrast to the usual mild mental retardation in AD-CDMMS. Furthermore he had hypertonia, dysmorphic features and low body weight, which are uncommon in AD-CDMMS. CDMMS is a rare disorder. We traced 18 reports on CDMMS including 10 families, 6 with horizontal transmission and 4 with vertical transmission. There are 8 reports and observations on isolated cases with CDMMS. This might imply genetic heterogeneity with autosomal recessive and autosomal dominant inheritance, with a more severe clinical picture in the former but with quite variable inter- and intrafamilial expression. A review of the literature is given. The existence of autosomal recessive inheritance in families with so-called horizontal transmission is discussed as variable expression, reduced penetrance and germline mosaicism may also explain this condition. Careful (particularly ophthalmologic) examination of first degree relatives is necessary before genetic counseling is given.

Chorioretinitis↗