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PubMed2001

Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype.

In 471 adult mentally retarded adult patients (mean age 46 years; 92.6% males) living in an institution for the mentally retarded, a clinical examination, cytogenetic and molecular studies were done. 306 patients were screened for metabolic disorders. In 7 additional patients a metabolic disorder (phenylketonuria (n = 5), mucopolysaccharidosis type III (Sanfilippo syndrome, type A) (n = 1) and mucopolysaccharidosis type VII (Sly syndrome) (n = 1)) was diagnosed in the past. The abnormal metabolic findings in this group of 313 patients were classified in three categories and the clinical findings are reported: 1. metabolic disorders as the cause of mental retardation (MR), 2. metabolic disorders not explaining the MR, and 3. metabolic abnormalities of unknown significance. The first two groups included 16 patients, i.e. 26.2% of the group of monogenic disorders and 3.4% of the total population: phenylketonuria (PKU) (n = 5), S-sulfocysteinuria (n = 3), mucopolysaccharidosis type III (Sanfilippo syndrome, type A) (n = 1) and Gm1-gangliosidosis type 3 (n = 1) (first group), and mucopolysaccharidosis type VII (Sly syndrome) (n = 1), Niemann-Pick syndrome, type B (n = 1), cystinuria (n = 1) and hyperprolinemia type 1 (n = 3) (second group). The third group included patients with citrullinemia (n = 2), methionine sulphoxide reductase deficiency (n = 1), ornithinemia (n = 1), glycinuria (n = 20), neuraminaciduria (n = 8), uraciluria (n = 6) and diabetes mellitus (n = 2). Screening for Congenital Disorders of Glycosylation (CDG) in 144 patients and for Smith-Lemli-Opitz syndrome (SLO) in a selected group of 6 patients was normal. Of the total group of 306 patients screened for inborn errors of metabolism, only 5 (1.6%) were found with a true metabolic disorder. These 5 patients presented clinical symptoms, neurodegenerative or behavioural problems, indicating further metabolic screening. The present study illustrates that a selected group of patients with mental retardation of unknown origin are candidates for metabolic screening, especially if aberrant behaviour, neurodegenerative problems or dysmorphic features are present.

Adult↗
PubMed2000

Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation.

A recent study suggested that a dodecamer duplication in exon 42 of the HOPA gene in Xq13 may be a significant factor in the etiology of X-linked mental retardation. In an effort to investigate this possibility, we determined the incidence of the dodecamer duplication in cohorts of non-fragile X males with mental retardation from three countries, cohorts of fragile X males from two countries, 43 probands from families with X-linked mental retardation and control cohorts from three countries. The duplication was found in 3.6-4.0% of male patients from two non-fragile X groups (Italy and South Carolina), in 1.2% from another non-fragile X group (South Africa), but in no male patients from families with X-linked mental retardation (South Carolina). The dodecamer duplication was also found in several white males with fragile X syndrome from France (5%) and South Africa (22.2%). Additionally, the duplication was found in 1.5% of South Carolinian newborn males, 2.5% South Carolinian male college students, 5% Italian male controls and 4.5% of the white South African controls. None of the black South African non-fragile X individuals with mental retardation, the fragile X or the control samples tested carried the duplication, suggesting that the duplication is rare in the black South African population. The incidence of the duplication was not significantly different between any of the groups in the study. Therefore, results of our studies in four different populations do not corroborate the findings of the previous study, and indicate that the HOPA dodecamer duplication does not convey an increased susceptibility to mental retardation.

Adult↗
PubMed1999

Eyewitness memory and suggestibility in children with mental retardation.

We examined how well children with mental retardation were able to recall a live staged event one day later compared to CA- and MA-comparable peers. Children with mental retardation performed very well on many measures of eyewitness memory performance, reaching the level of the CA-comparable group for free recall, general questions, open-ended questions, and correctly leading questions. They were, however, more suggestible in response to closed misleading questions than were children in the CA-comparable group, although they were not more suggestible than those in the MA-comparable group. Some relationships were found between a standardized measure of suggestibility and performance on the eyewitness memory task, but most of these relationships were not the same within each of our study groups.

Attention↗
PubMed2005

Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.

We present a boy with blepharophimosis, ptosis, epicanthus inversus, microcephaly, mild mental retardation, and growth delay. Chromosomal analysis revealed a male karyotype with an interstitial deletion in the long arm of chromosome 3. DNA-analysis showed that the deletion is of maternal origin and encompasses the region between markers D3S1535 and D3S1593. The deletion contains not only the FOXL2 gene, but also the gene encoding ataxia-telangiectasia and Rad3-related protein (ATR). Mutations in FOXL2 have been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). ATR has been identified as a candidate gene for Seckel syndrome, an autosomal recessive syndrome that comprises growth retardation, microcephaly, and mental retardation. We hypothesize that our patient has a contiguous gene syndrome and that the non-BPES-associated abnormalities (microcephaly, mild mental retardation, and growth delay) are the result of the deletion of the maternal ATR gene. However, it has not yet been excluded that haploinsufficiency of some other gene in this region plays a role.

Abnormalities, Multiple↗
PubMed1999

Stress and self-injurious behavior; hormonal and serotonergic parameters in mentally retarded subjects.

Self-injurious behavior (SIB) and stereotyped behavior (SB) are major challenges for professionals in the field of mental retardation. From animal experiments it has become obvious that these behavioral disturbances are not purposeless but may emerge secondary to restrictive environment and may serve de-arousing objectives. In mentally retarded subjects, several hypotheses have been formulated concerning the pathogenesis of SIB, particularly about the involvement of serotonin and beta-endorphin, which are supported by beneficial treatment effects of the opiate antagonist naltrexone and serotonin modulating compounds, respectively. The present study was designed to investigate basal levels of stress-hormonal and serotonergic parameters as well as plasma levels of amino-acids and the beta-carboline norharman in a group of 64 mentally retarded subjects with SB and/or SIB. Allocation to three different groups comprising 17 retarded controls, 26 subjects with mainly SIB and 21 subjects with mainly SB, was originally performed using the scores on the factors Irritability, Stereotypic Behaviour and Hyperactivity of the Aberrant Behavioral Checklist. Because of the overlapping nature of the behavioral parameters, subjects were subsequently divided into three maximally contrasting groups, viz. predominantly SIB, predominantly SB and retarded controls, each comprising 11 subjects. With respect to beta-endorphin, no differences were found either between both the original and maximally contrasting groups or in comparison to nonretarded controls. As compared to retarded controls, a tendency to lower values for total cortisol and cortisol binding globulin appeared to be present in the SIB group, whereas in the SB group a tendency toward higher levels of the major serotonin metabolite 5-HIAA was found. In the contrasting SB group, a trend toward decreased total cortisol level was observed as compared to the retarded control group. In addition, significantly lower values for norharman and tryptophan were demonstrated in the total group of mentally retarded subjects as compared to non-retarded controls. The results of the present study, yielding co-existent disturbances in stress-hormonal and monoaminergic mechanisms as well as in the metabolism of norharman, are in line with the hypothesis that mentally retarded subjects are at risk for the development of stress-related behavioral disorders such as SIB and SB.

Adult↗
PubMedDate not supplied

Effect of X inactivation on fragile X frequency and mental retardation.

The probability of a heterozygote being affected was estimated from the distribution of frequencies of early-replicating fragile X [fra(X)] chromosome in normal and mentally retarded heterozygotes, taking into account the prior probabilities of 0.35 for mental retardation and 0.65 for normality. The estimated probability of a heterozygote with 100% early-replicating fra(X) being mentally retarded was 78%, which coincides with the value of penetrance in males. Therefore, the manifestation of retardation in females seems to differ from that in males due solely to X inactivation. The frequencies of early-replicating fra(X) were significantly increased among the heterozygotes with the highest frequencies of fra(X) both in the normal group and in the mentally retarded. The mean frequencies of early-replicating fra(X) were 0.42 and 0.68 for normal and mentally retarded heterozygotes, respectively. Considering the overall frequency of retarded heterozygotes as 0.35, the mean frequency of early-replicating fra(X) obtained for all heterozygotes was 0.51, which is in accordance with the hypothesis of random X inactivation. Thus the fragile site appears to have equal chances of being detected when located either on the early- or on the late-replicating X. This leads to the conclusion that the frequency of the fragile site is a consequence of the proportion of cells with the active Martin-Bell syndrome (MBS) gene and not the result of a better visualization of the site on the early-replicating X.

DNA Replication↗
PubMedDate not supplied

[Risperidone in the treatment of psychotic disorders associated with mental retardation].

INTRODUCTION: The safety and effectiveness of risperidone in patients with a diagnostic of mental retardation and/or psychotic and disturbance disorder was assessed in an open and observational study. MATERIAL AND METHODS: A total of 127 patients with DSM-III-R diagnoses of mental retardation together with psychotic disturbance (psychotic and/or behaviour disturbance) was included in an open label surveillance study. The study objectives were to evaluate safety and efficiency of risperidone in these patients during a six-month period. Risperidone was assessed by the Clinical Global Impression (CGI), schizophrenia subscales of Scale for Evaluating Emotional Disorders in Severely and Profoundly Mentally Retarded Persons (DASH) and Assessment and Information Rating Profile (AIRP), UKU subscale for neurological side effects and spontaneous reports. RESULTS: Ten patients (7.9%) were excluded from the statistical analysis due to protocol violation. Seventeen patients (14.5%) dropped out. Risperidone was used at a mean dosage of 2.98 (2.37 mg daily. Risperidone produced a significant reduction, vs baseline, in the mean total scores of CGI and DASH-AIRP scales from day 15 onwards. There was a significant reduction in the total UKU subscale for neurological, autonomic side effects scores and psychotic symptoms. Risperidone was generally well tolerated. During the 6 months of study period, 93.2% of the patients did not suffer any adverse event; the resting 7.7% suffered one or more side effects. DISCUSSION: In this study, risperidone was a safety and effectiveness treatment in patients with a diagnostic of mental retardation and psychotic and/or disturbance disorder associated.

Adolescent↗
PubMed2003

The psychometric properties of the Multi-Dimensional Observation Scale for Elderly Subjects (MOSES) in middle aged and older populations of people with mental retardation.

OBJECTIVE: To assess the internal consistency, inter-scale correlations and factor structure of the MOSES with older adults with mental retardation. METHOD: A series of outpatients with mental retardation were assessed with the MOSES. 163 middle aged and older adults with mental retardation living in community settings participated. RESULTS: The subscales and total scale of the Multi-Dimension Observation Scale for Elderly Subjects (MOSES) were highly internally consistent. The pattern of correlations between the five scales was very similar to that reported by Dalton et al. (1999). The results of a factor analysis using varimax rotation indicated a three-factor structure corresponding to adaptive behavior, externalizing and internalizing maladaptive behaviors. CONCLUSIONS: The MOSES appears to be was a psychometrically adequate instrument to screen older adults with mental retardation.

Activities of Daily Living↗
PubMed1981

Use of services for the mentally retarded in the African-American community.

Mentally retarded individuals, their families, and professionals in the service delivery system in the African-American community were interviewed concerning the use of services for the mentally retarded. It was found that African-Americans underutilized available services. Reasons for this included aspects of the service delivery system and features of African-American Culture. Recommendations were made for increasing the use of services.

Black or African American↗
PubMed1990

[The mentally retarded in the local community--occurrence, causes, medical treatment and follow-up].

An epidemiological study of mentally retarded persons in a Norwegian municipality was carried out in order to collect data about prevalence, causes, medical treatment and follow-up. The number of mentally retarded was found to be twice the average for the country as a whole. The causes of mental retardation indicated that this was due to a low degree of urbanization--a stable population, larger families, more births at home and long distance from hospital. The survey revealed that medical care had been seriously neglected. Several patients had never been given a diagnosis, and the number of contacts with a doctor for any reason was far below the average for the rest of the local population. Several were found to have unknown impaired vision and hearing, and many were being inadequately treated for common diseases like migraine, myalgia, stomach pain, diarrhoea etc. The neglect was worse among those living at home than among those living in the institutions for the mentally retarded.

Community Mental Health Services↗
PubMed1994

Professionals' prognoses for individuals with mental retardation: search for consensus within interdisciplinary settings.

Previous studies have shown a lack of consensus in professionals' prognoses for individuals with mental retardation. The present study was designed to continue the investigation of professionals' prognoses for the achieved capabilities and residential and vocational placement of individuals with mild, moderate, or severe mental retardation. Four professional groups (N = 567 subjects) from 50 of the 52 University Affiliated Programs throughout the country were surveyed. The Prognostic Beliefs Scale was used. Results showed that physicians had significantly lower expectations and more pessimistic prognoses for children with moderate or severe mental retardation than did the other professionals. The only consensus on prognosis was for children with mild mental retardation. Results call into question one of the assumed benefits of interdisciplinary teams--communication--and its impact on professionals' expectations and prognoses for individuals with mental retardation.

Activities of Daily Living↗
PubMed1999

Competence to confess: measuring understanding and suggestibility of defendants with mental retardation.

Groups of individuals with or without mental retardation, all of whom were currently on probation, were tested with measures of comprehension of Miranda rights and of suggestibility. As in previous work, participants with mental retardation were found to be less able to comprehend their Miranda rights. In addition, they were significantly more likely to respond to suggestive questioning and to change their answers. Significant correlations were found between measures of comprehension of Miranda rights and measures of suggestibility. Implications of these results were discussed.

Adult↗
PubMed1989

[Prevalence of hepatitis B infection in institutions for the mentally retarded. Epidemiologic characteristics in the province of Vizcaya].

The prevalence of hepatitis B virus (HBV) infection was studied in 346 subjects (148 employees and 198 mentally retarded) in four institutions for the mentally subnormal in Vizcaya-Spain. The prevalence of markers in the overall group was 32.6%; 13.5% in the employees and 46.9% in the mentally retarded. Early age and institutionalization time increases the risk of infection in the mentally retarded group, but not in the employees group. 220 subjects (118 employees and 102 mentally retarded) had negative HBV markers and were vaccinated with recombinant-DNA hepatitis B vaccine. The immunogenicity was 80% and the weight-height index the only factor implicit in the group of subjects no seroconverters. The reactogenicity of vaccine was 6.7%.

Allied Health Personnel↗
PubMed1990

Sexual abuse and exploitation of children and adults with mental retardation and other handicaps.

There is growing recognition that children, adolescents, and adults who are mentally retarded are particularly vulnerable to sexual abuse and exploitation and are in need of intervention services. These people are especially vulnerable due to ther often life-long dependence on caregivers, relatively powerless position in society, emotional and social insecurities, and lack of education regarding sexuality and sexual abuse. In addition the mental health functioning and emotional development of individuals who are mentally retarded are not well understood, and many professionals remain uneducated about their mental health needs. To work effectively with this population, mental health professionals and educators must be alert to what is known about the sexual abuse and exploitation of persons with mental retardation. Furthermore, they need to become educated about the rights of these persons to special legal protection from abuse and neglect and to appropriate and effective mental health interventions. The challenge for mental health professionals and educators is to protect persons who are mentally retarded from sexual abuse and exploitation, to provide appropriate psychotherapeutic interventions when abuse occurs, to respect their right to developmentally appropriate knowledge about sexuality and sexual abuse, and to allow for the fulfillment of their sexuality.

Adolescent↗
PubMed1997

Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation.

Many microdeletion and contiguous gene-deletion syndromes include mental retardation as a clinical feature. We have developed MultiFISH, a FISH assay using several probes to simultaneously screen for multiple microdeletion syndromes in patients who present with unexplained devleopmental delay and/or mental retardation. This screening tool can be used to determine whether a particular microdeletion syndrome is involved in the etiology of these clinical phenotypes. In this pilot study we combined probes for the commonly deleted regions of Prader-Willi, Angelman, Williams, Smith-Magenis, and DiGeorge/velocardiofacial syndromes in a single hybridization. The probes were differentially labeled, allowing multicolor detection, and 200 individual samples were screened in a blinded fashion. For all patients found by MultiFISH to have deletions, the deletions were originally identified and/or later confirmed by use of single-probe FISH analysis in our diagnostic cytogenetics laboratory. One patient, who was referred for developmental delay and was shown to have a normal G-banded karyotype, was identified by MultiFISH as having a micro-deletion at the DiGeorge/velocardiofacial commonly deleted region. Forty-six of the 200 total samples were tested for microdeletions by use of single FISH probes in the diagnostic laboratory. Ten of these cases were found to have deletions, and all deletions were subsequently detected by use of MultiFISH screen performed in a blinded fashion. Additionally, for all 200 patients tested by use of MultiFISH, no false-positive deletion results were observed. We demonstrate the ability of this technique to scan for and to identify microdeletions in a proportion of patients whose routine karyotype appears normal yet who are mentally retarded and/or developmentally delayed.

Child↗
PubMed2006

The presence of low IQ and mental retardation among murder defendants referred for pretrial evaluation.

After an overview of definitions of mental retardation and recent case law regarding mental retardation and the death penalty, this paper presents a study of factors associated with a mental retardation (MR) diagnosis among murder defendants. Subjects with a full-scale IQ< or =70 (n=42) were compared with other pretrial murder defendants (n=228) referred for forensic evaluation over a 5-year period. Subjects with an IQ< or =70 who were diagnosed with MR were compared with subjects with an IQ< or =70 who did not receive this diagnosis. Female murder defendants were more likely to receive a diagnosis of MR (p=0.03). MR was also more commonly diagnosed in subjects with an Axis I cognitive disorder (p=0.018). Having an IQ< or =70 was more common in subjects with a psychotic and substance use disorder (p=0.03) and did not necessarily lead to a diagnosis of MR in this subgroup. Implications for diagnosing MR among murder defendants are discussed.

Adolescent↗
PubMed1991

Outpatient sedation: an essential addition to gynecologic care for persons with mental retardation.

Routine gynecologic care for persons with mental retardation may be difficult to provide, especially to those women who do not allow a pelvic examination to be performed. Of 275 women referred to a multidisciplinary clinic addressing the reproductive health concerns of mentally retarded women, 61 patients (22%) did not allow a gynecologic examination to be performed. The administration of ketamine alone, midazolam alone, or a combination of midazolam and ketamine allowed for the successful performance of a gynecologic examination in 81% of previously uncooperative women. No adverse effects of the medications were noted. We conclude that sedation of difficult-to-examine, mentally handicapped women can be safely performed in the outpatient setting, thus avoiding the need for general anesthesia and its inherent risks.

Ambulatory Care↗