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PubMed1984

Increasing physicians' awareness and use of community resources for mentally retarded persons.

General practitioners must frequently deal not only with the physical health of their mentally retarded patients, but also with their psychological and emotional problems and with difficulties that their families have with coping. In the present study all general practitioners in one city were questioned about their knowledge of mental retardation, their ability to counsel families with a mentally retarded member and their knowledge and utilization of community agencies which provided services for the mentally retarded and their families. The majority of the 400 physicians who satisfactorily completed the questionnaire accepted an obligation to deal with the various problems of the mentally retarded, to counsel their families and to know about and make referrals to available community services. However most also expressed lacks in their knowledge about these various matters. Subsequently, detailed information was sent to them about the available community agencies and then sometime later they were given a second questionnaire concerning their referrals to and advice to parents about the community services. The replies indicated that the physicians now had a much greater awareness of the services available, and that they more regularly made referrals to and advised parents to use these facilities.

Community Mental Health Services↗
PubMed1986

Psychiatric disorders in mildly and severely mentally retarded urban children and adolescents: epidemiological aspects.

A total of 149 children aged 13-17 years were examined. 83 were mildly and 66 severely mentally retarded. These children, especially the severely retarded ones, are representative of all mentally retarded children born in 1966-1970 and living in Göteborg, Sweden. 64% of the severely mentally retarded and 57% of the mildly mentally retarded children were suffering from a handicapping psychiatric condition. Autism-like 'psychotic behaviour' was common in the severely retarded. 0.2% of the total child population aged 13-17 years suffering from the combination of mental retardation and 'psychotic behaviour'. Epilepsy was associated with psychiatric abnormality, but Down's syndrome was generally not so associated.

Adolescent↗
PubMed2000

Pharmacologic management of psychiatric and behavioral symptoms in mental retardation.

Compared with the general population, individuals with mental retardation demonstrate more susceptibility to psychiatric illness and may display disruptive behaviors. These symptoms significantly can affect an already compromised ability to function and the patient may benefit from pharmacologic intervention. Clinical characteristics of individuals with mental retardation warrant special consideration regarding diagnosis and treatment of their psychiatric and behavioral problems. This article describes the nature of symptoms that are typically the target of pharmacologic intervention, outlines special diagnostic considerations, and examines recent findings and experience with psychotropic medication in mental retardation.

Adolescent↗
PubMed1998

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

Non-specific X-linked mental retardation (MRX) is a very common disorder which affects approximately 1 in 600 males. Despite this high frequency, little is known about the molecular defects underlying this disorder, mainly because of the clinical and genetic heterogeneity which is evident from linkage studies. Recently, a collaborative study using the candidate gene approach demonstrated the presence of mutations in GDIalpha, a Rab GDP-dissociation inhibitor encoded by a gene localized in Xq28, associated with non-specific mental retardation. GDIalpha is mainly a brain-specific protein that plays a critical role in the recycling of Rab GTPases involved in membrane vesicular transport. The study presented here was designed to assess the prevalence of mutations in the GDIalpha in mentally retarded patients and to discuss the clinical phenotypes observed in affected individuals. Mutation screening of the whole coding region of the GDIalpha gene, using a combination of denaturing gradient gel electrophoresis and direct sequencing, was carried out in 164 patients found negative for expansions across the FRAXA GCC repeat. In addition to the nonsense mutation recently reported in MRX48, we have identified a novel missense mutation in exon 11 of the GDIalpha gene in one familial form of non-specific mental retardation. In this family (family R), all affected males show moderate to severe mental retardation, and the X-linked semidominant inheritance is strongly suggested by the severe phenotypes in males with respect to mildly affected females or unaffected obligatory carriers. This study showed that the prevalence of GDIalpha mutations in non-specific mental retardation could be estimated to be 0.5-1%, and molecular diagnosis and genetic counselling in some cases of non-specific mental handicap can now be provided.

Female↗
PubMedDate not supplied

Temperament characteristics of mentally retarded children.

In a comparative study of temperament and intelligence in groups of mentally retarded and normal children, it was found that mentally retarded children who also had excess of psychopathology in them, showed greater signs of 'difficult' child temperament. Relationship between intelligence and emotionality variable of temperament was linear and positive in the mentally retarded children. This study generates the hypothesis that negative mood may be temperamental correlated with mental retardation.

Adolescent↗
PubMedDate not supplied

Reliability of the Child Behavior Checklist for the assessment of behavioral problems of children and youth with mild mental retardation.

The assessment of psychopathology in persons with mental retardation requires reliable and valid instruments. In the present study, the reliability of the Child Behavior Checklist was determined, using data of 42 children and youth with mild mental retardation, with ages from 10 to 18 years. Kappa coefficients and intra-class correlations were computed to determine the reliability at item level and syndrome level. At item level, mean kappa's for inter-rater and test-retest reliability were 0.267 and 0.52, respectively. At syndrome level, mean intra-class correlations for inter-rater and test-retest reliability were 0.493 and 0.775, respectively. These results suggest that the Child Behavior Checklist may not always represent a reliable checklist for the assessment of psychopathology among children and youth with mild mental retardation.

Adolescent↗
PubMed1990

Prison adjustment of youthful inmates with mental retardation.

Adaptation of young inmates with and without mental retardation to prison regime was examined. The mean number of disciplinary reports received across five categories of infractions were compared. Differences were evaluated with one-way analysis of variance and follow-up tests. Results indicated that (a) youthful mentally retarded and nonretarded prison inmates did not adjust to incarceration in a similar manner and (b) behavior in prison was significantly different across certain measures by group. Inmates with mental retardation demonstrated poor overall adjustment in prison.

Adaptation, Psychological↗
PubMed1997

Drug abuse in persons with mental retardation: a review.

The literature on drug abuse by people with mental retardation, a real, but largely ignored problem, was reviewed. Topics addressed were (a) the prevalence of drug use, (b) the drug-related problems characteristically encountered by this population, (c) the special vulnerabilities of people with mental retardation, (d) the treatment programs used with (and appropriate for) people with mental retardation, and (e) the status of drug abuse prevention and drug education for this population. Controlled research dealing with the genesis, treatment, and prevention of drug abuse among people with mental retardation is essentially nonexistent, but badly needed.

Alcoholics Anonymous↗
PubMedDate not supplied

Cystinuria and its relationship to mental retardation.

Urine specimens from 2,073 mentally retarded children have been analysed for their amino acid content, with the aim of determing the relationship of cystinuria and mental retardation. No children homozygous for cystinuria were identified, but 50 heterozygous children were found. This heterozygote incidence is 13 times that expected in our general population.

Adolescent↗
PubMed2005

Advances in X-linked mental retardation.

PURPOSE OF REVIEW: Mutations in genes on the X chromosome rival chromosome aberrations as a cause of mental retardation. Progress in the clinical and molecular delineation of X-linked mental retardation has outpaced progress in understanding autosomal mental retardation. This is a result in large part of the identification of large families in which mental retardation has segregated in an X-linked pattern and the greater ease with which molecular technologies can be applied to hemizygosity in males. RECENT FINDINGS: About one-third of the estimated 165 genes associated with syndromal mutations of genes on the X chromosome and one-fourth of the estimated 100 genes associated with nonsyndromal mutations of genes on the X chromosome have been identified. In a number of instances, the same gene is responsible for syndromal and nonsyndromal mutations of genes on the X chromosome. The molecular delineation of mutations of genes on the X chromosome has allowed certain conditions to be lumped together on the basis of allelism and has caused others that appear clinical similar to remain separate. SUMMARY: The clinical and molecular advances have allowed X-linked mental retardation to be more clearly delineated, have provided the means of confirmatory laboratory testing, and have ushered in an era of carrier testing, prenatal diagnosis, and prevention strategies.

Carrier Proteins↗
PubMed2000

X-linked non-specific mental retardation.

Non-specific mental retardation is a very common and genetically heterogeneous disorder but, to date, only six genes related to this condition have been identified. Five of these six have been found in the past two years, through positional-cloning efforts of mapped X-linked families. The characteristics of the newly identified genes are providing insights into the molecular mechanisms of mental impairment and the development of cognitive functions.

Chromosome Mapping↗
PubMed2004

Kidney transplants from young children and the mentally retarded.

Kidney donation by young children and the mentally retarded has been supported by court decisions, arguments based on obligations inherent in family relationships, an array of contextual factors, and the principle of beneficence. These justifications for taking organs from people who cannot protect themselves are problematic and must be weighed against our obligation to protect the vulnerable. A compromise solution is presented that strongly protects young children and the mentally retarded but does not abdicate all responsibility to relieve suffering. Guidelines are proposed that prohibit the retrieval of kidneys from young children and the mentally retarded but permit one exception. They would allow retrieval of a kidney when the consequence to a first order relative with whom the donor has a meaningful and valuable relationship is otherwise imminent death. This would be done in accordance with additional guidelines that minimize harm to the donor. Since most patients with end stage renal disease can be maintained on dialysis the need for a kidney to prevent death should be an uncommon occurrence. This compromise is proposed as a solution to a dilemma that exists because two ethical principles are in conflict and one cannot be honored without violating the other.

Child↗
PubMed2005

Drug utilisation by children and adolescents with mental retardation: a population study.

OBJECTIVE: Little is known about the utilisation of drugs by mentally retarded children; population studies are even more sparse. In this study the chronic drug utilisation in children aged 4-18 years with mental retardation in a large population in the Netherlands was investigated. METHODS: Throughout all special schools and (day) care facilities for children with mental retardation in Friesland, parents/representatives were approached requesting participation of their children. Participants were interviewed about a number of aspects including medication use. For 921 of the 1,057 participants, information was available on medication use for those physical and psychiatric illnesses that bothered them or was expected to bother them for at least 3 months per year; 912 of the participants were within the age category under study: 4-18 years. RESULTS: About 22% of the 912 participants used chronic medication, 47% of whom used two or more drugs. The prevalence of drug use increased with severity of mental retardation from about 17% to 49%. The exception was the 6% of children with borderline intellectual functioning: their medication prevalence was 27%. Overall, 17% of the study population used a nervous system drug, 4% used a respiratory system drug and 3% used an alimentary tract drug. Of the drugs for the nervous system, alimentary tract and respiratory tract, 32% was prescribed off-label. For 3%, we were unable to establish on/off-label use. CONCLUSIONS: Chronic drug utilisation patterns in children and adolescents with mental retardation are different from those in the general paediatric population. These different patterns suggest the need for additional research.

Adolescent↗
PubMed1998

Sleep studies of adults with severe or profound mental retardation and epilepsy.

Sleep patterns of people with mental retardation have received little research attention. This is an important gap in knowledge because understanding the relation between sleep and wakefulness may be critical to care provision. Descriptive sleep information on 28 people with severe or profound mental retardation and epilepsy was presented here. Sleep EEG data, studied both conventionally and by means of a neural network-based sleep analysis system suggest atypical sleep stages with significant depletion of REM sleep and a predominance of "indiscriminate" non-REM sleep. Sleep diaries completed by caregivers reveal lengthy sleep period times, especially among those with profound mental retardation. Possible explanations for these results and their implications were discussed.

Adolescent↗
PubMed1982

Relationship of state educational criteria and demographic variables to school-system prevalence of mental retardation.

A survey of state departments of education revealed wide variations in mental retardation terminology, definition, and classification variables. The relationship of survey variables and demographic characteristics of states with school-system prevalence of mental retardation was analyzed. Survey variables such as mental retardation definition, adaptive behavior measurement, and IQ cutoff score were largely unrelated to school-system prevalence. Demographic characteristics based on summary data for states on variables such as per capita income, educational level, and rate of illiteracy were highly related to school-system prevalence. Caution was recommended in interpretation of results based on ecological correlations, i.e., correlations based on group summaries rather than individual data. The results were seen as further indication of the relative, social-system nature of mild mental retardation.

Adaptation, Psychological↗
PubMed2003

The assessment of mood in adults who have severe or profound mental retardation.

Empirical literature examining the emotional lives of adults with severe and profound mental retardation is limited. One area to have received attention is mood. It is proposed that the utility of assessment of mood extends beyond psychiatric diagnosis to issues such as the appraisal of quality of life for individuals with limited or no expressive language. Two themes related to the assessment of mood are evident in contemporary literature. First, attempts have been made to clarify presentation of affective disorders, especially depression, and to improve assessment of depressive symptomatology in adults with mental retardation. A review of current methods for assessing depression indicates significant problems with reliability and validity. There is a need to develop appropriate assessment methods for use in relation to adults with severe and profound mental retardation who are unable to self-report and behavioral methodology might be useful in this respect. Second, there is an emerging argument that presentation of depression in adults with mental retardation, particularly in individuals with severe disabilities, includes challenging behaviors, referred to as "atypical symptoms." Methodological and conceptual issues related to this argument warrant closer examination. Finally, it is noted that research drawing on more rigorous methodology is required to interpret the emotional states of individuals with severe and profound mental retardation.

Affect↗
PubMed2006

[Orientation of mental retardation from neurometabolic diseases].

INTRODUCTION AND DEVELOPMENT: Isolated mental retardation is rarely caused by metabolic factors. The application of a standardised protocol offers low diagnostic performance. There is no international agreement about what type of metabolic examination must be applied in patients with unspecific mental retardation. Nevertheless, and although they are infrequent, there are a number of inborn errors of metabolism that can present in this way. Urea cycle disorders, different forms of homocystinuria, creatine transport deficiency, 4-hydroxybutyric aciduria, Sanfilippo disease, adenylosuccinate lyase deficit and certain extraordinarily rare congenital disorders of the glycosylation of proteins are some examples of them. It is important first to consider those for which treatment is available and that could be diagnosed genetically for possible family counselling. CONCLUSIONS: Rather than applying a standardised study protocol it is essential is to perform a thorough appraisal of the signs and symptoms associated with the mental retardation (psychiatric disorders, autistic traits, predominant compromise of language, signs of cerebellar dysfunction, epilepsy, dysmorphic traits), since in most disorders it is necessary to apply specific analyses, which are not included in conventional metabolic studies and are only available in certain reference centres.

Algorithms↗
PubMed2006

A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.

X-linked mental retardation (XLMR) is a genetically heterogeneous condition, due to mutations in at least 50 genes, involved in functioning of the central nervous system and located on the X chromosome. Nonspecific XLMR (MRX) is characterized essentially by mental retardation transmitted by X-linked inheritance. More than 80 extended MRX pedigrees have been reported to date, which have been distinguished exclusively by physical position of the corresponding gene on the X chromosome, established by linkage analysis. One such family, MRX21, which was described by us in 1993 and localized to Xp11.4-pter, has now been reanalyzed with additional markers and after one more affected individual had became available. This extra information allowed a significant reduction of the linkage interval and, eventually, identification of the mutant gene. A stop mutation in exon 10 of the IL1RAPL1 gene (in Xp21) was found in the four affected males and in obligate carriers, allowing conclusive counseling of other family members of uncertain carrier status. The W487X mutation results in the production of a truncated IL1RAPL protein, comprised of the extracellular Ig-like domain and transmembrane tract, but lacking the last 210 aminoacids of the cytoplasmic domain. MRX21 is the first extended MRX family with a point mutation in IL1RAPL1 and the second with a stop mutation, which had been previously found only in a small family. Our report confirms the role of the IL1RAPL1 gene in causing nonspecific mental retardation in males and underlines the importance of detailed linkage analysis before candidate gene mutational screening.

Chromosomes, Human, X↗