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Frequency of the fragile X syndrome in Japanese mentally retarded males.

Among 243 institutionalized mentally retarded males in Japan, 13 patients (5.3%) with the fra(X)(q27) from nine families were detected. These 13 patients accounted for 8.6% of 152 male inmates with unknown causes of mental retardation in the population. One out of nine pedigrees had an apparently unaffected male transmitter of this disorder. Our data agree with the frequencies of the fra(X) syndrome in various retarded populations, most of which were Caucasians, suggesting that the prevalence of the fra(X) syndrome in Japanese is not significantly different from those in Caucasians.

Adolescent↗

[Non-specific X-linked mental retardation].

INTRODUCTION: Non-specific mental retardation is defined by the absence of somatic, neurological, biochemical or behavioural features that characterise a particular clinical variant and accounts for a large percentage of cases of X-linked mental retardation (XLMR). Genetic linkage studies showed it to have a high rate of genetic heterogeneity. DEVELOPMENT: To date, genetic linkage studies or the characterisation of chromosomal rearrangement in patients have allowed 22 different genes to be identified. Some of the most notable of these are the genes responsible for syndromic forms, such as RPS6KA3, ARX, JARID1C, XNP or MeCP2, in which the mildest mutations, with a certain amount of functional activity, cause non-specific retardation. The proteins these genes code for are directly or indirectly involved in regulating the expression of other genes. Moreover, genes such as OPHN1, PAK3, ARHGEF6, FGD1 or TM4SF2 code for proteins that interact with rho GTPases, and play a role in the transmission of signals that regulate the development of axons and dendrites. Other types of functions of the known genes include establishing and modulating synapses (DLG3, IL1RAPL, NLGN4X, GDI1), regulating transcription (ZNF41, ZNF81, PQBP1) translation (FTSJ1), and fatty acid metabolism (FACL4), etc. CONCLUSIONS: Each gene that has been identified only accounts for a minor fraction of the total amount of XLMR, and even if taken together they still do not explain half the cases of non-specific XLMR. The number of XLMR genes is expected to rise in coming years with the development of new techniques that will facilitate diagnosis and genetic counselling in the relatively near future.

Chromosome Mapping↗

Mental retardation in a birth cohort, 1976-1980, Rochester, Minnesota.

The cumulative incidence of mental retardation in a birth cohort of children born from 1976 through 1980 in Rochester, Minnesota (n = 5,919) was estimated. Rochester is the site of the Rochester Epidemiology Project, which captures virtually all medical care delivered locally. Passive follow-up through school and community medical records for criteria diagnostic of mild or severe mental retardation was undertaken. Thirty children were classified with mental retardation. The cumulative incidence of mental retardation by age 8 years was 9.1 per 1,000 (95% confidence interval = 6.2, 13.0) and was similar for boys and girls (8.3 vs. 10.0 per 1,000, respectively). The cumulative incidence for severe mental retardation in girls was more than twice that in boys; for mild retardation it was the opposite. The cumulative incidence among boys was 1.7 times greater than the cumulative incidence for girls. Results suggest that although the overall incidence of mental retardation by gender was similar, the severity may differ somewhat.

Child↗

Elective mutism and mental retardation.

The association of elective mutism and mental retardation is noted. Two cases of elective mutism associated with mental retardation are presented. Both individuals had long-standing patterns of inhibition, shyness, and anxiety manifested by general refusal to talk outside the home, particularly at school. The importance of assessment of intellectual functioning and linguistic skills for the establishment of intervention priorities and clinical management is discussed. The possibility of the presence of mental retardation in individuals with elective mutism should be considered.

Adolescent↗

Primary care of adults with mental retardation living in the community.

An increased number of adults with mental retardation are living in the community and seeking health care from family physicians. When mentally retarded patients are enrolled in a medical practice, guardianship status should be determined, but these patients should be involved in their own care to as great an extent possible. Since a verbal history may be difficult to obtain, a systematic, thorough physical examination is important. Certain Illnesses, such as hepatitis B, recurrent aspiration syndrome, leukemia and atlantoaxial instability, are much more common in adults with Down syndrome then in adults with mental retardation from other causes. Seizures and mental illness are equally common in all mentally retarded adults. The behavior management and pharmacologic therapy of patients with mental retardation are best handled in close association with caregivers, as well as psychiatrists and neurologists who are familiar with the special needs of this population.

Adult↗

Psychometric evaluation of a measure of cognitive decline in elderly people with mental retardation.

Forty elderly persons with mental retardation were assessed by their care providers on a modified version of the Short Informant Questionnaire on Cognitive Decline in The Elderly (IQCODE) an instrument designed to quantify cognitive decline in elderly people in the general population. They were also assessed for IQ, aberrant behavior, and current mental status; test-retest and interrater reliability were evaluated as well. Internal consistency, as assessed by coefficient alpha, was moderately high (alpha = .86). Test-retest reliability was mediocre and interrater reliability levels did not reach statistical significance. The Short IQCODE was not correlated with a variety of demographic features or with behavior ratings, showing evidence of divergent validity. However, the Short IQCODE was only weakly (nonsignificantly) correlated with a measure of current mental status, which challenges its concurrent validity. The Short IQCODE probably needs to be modified further for satisfactory psychometric performance in people with mental retardation. However, some features of this study may have resulted in suboptimal estimates of the Short IQCODE's psychometric characteristics.

Aged↗

Services for people with mental retardation and psychiatric disorders: US-UK comparative overview.

Mental health services for people with mental retardation have been receiving greater attention over recent years following a long period of inactivity. The main policy factors which influenced the developments of services were in the USA, the emphasis on deinstitutionalisation and normalisation, and in the UK the focus on social care. Progress in the assessment of psychiatric disorders and improved diagnostic techniques have stimulated the development of a wide range of mental health services for people with mental retardation, compatible with current ideology of community care on both sides of the Atlantic. Specialist multidisciplinary, community based and easily accessible mental health services should be available for people with mental retardation. Economic cost, quality of care, and training of professionals and direct care staff, remain some of the challenges faced by purchasers and providers of mental retardation and mental health services in both countries.

Humans↗

The heterogeneity of microphthalmia in the mentally retarded.

The hereditary cases of microphthalmia in the mentally retarded are not all of the partially sex-linked type as has hitherto been stated. A survey is given of published cases of dominant, autosomal recessive and sex-linked recessive pedigrees with the coincidence of microphthalmia and mental retardation. The common misconception of Norrie's disease being regraded as microphthalmia or hereditary corneal dystrophy instead of phthisis is noted. Present knowledge of chromosomal aberrations associated with microphthalmia is surveyed, and some of the syndromes and phenocopies in the mentally retarded in which microphthalmia may be found are reviewed. The survey, however, does not pretend to be a complete inventory of causes of microphthalmia in the mentally retarded.

Abnormalities, Multiple↗

Mental retardation, macrocephaly, short stature and craniofacial dysmorphism in three sisters. A new entity among the mental retardation-macrocephaly syndromes?

In this report we describe a true macrocephaly-mental retardation syndrome in three sisters. In addition, they present a distinct craniofacial dysmorphism with coarse facial features. Further family investigation revealed a similar macrocephaly in the mother and her father, suggesting autosomal dominant transmission of this familial macrocephaly. Present knowledge of the nosology of the mental retardation-macrocephaly association is reviewed and discussed.

Adult↗

A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation.

X-linked nonspecific mental retardation (MRX) has a frequency of 0.15% in the male population and is caused by defects in several different genes on the human X chromosome. Genotype-phenotype correlations in male patients with a partial nullisomy of the X chromosome have suggested that at least one locus involved in MRX is on Xp22.3. Previous deletion mapping has shown that this gene resides between markers DXS1060 and DXS1139, a region encompassing approximately 1.5 Mb of DNA. Analyzing the DNA of 15 males with Xp deletions, we were able to narrow this MRX critical interval to approximately 15 kb of DNA. Only one gene, VCX-A (variably charged, X chromosome mRNA on CRI-S232A), was shown to reside in this interval. Because of a variable number of tandem 30-bp repeats in the VCX-A gene, the size of the predicted protein is 186-226 amino acids. VCX-A belongs to a gene family containing at least four nearly identical paralogues on Xp22.3 (VCX-A, -B, -B1, and -C) and two on Yq11.2 (VCY-D, VCY-E), suggesting that the X and Y copies were created by duplication events. We have found that VCX-A is retained in all patients with normal intelligence and is deleted in all patients with mental retardation. There is no correlation between the presence or absence of VCX-B1, -B, and VCX-C and mental status in our patients. These results suggest that VCX-A is sufficient to maintain normal mental development.

Amino Acid Sequence↗

Substance use and abuse among mentally retarded persons: a comparison of patients and a survey population.

Substance abuse among mentally retarded persons, first described 55 years ago, has received little or no attention by specialists in mental retardation. With deinstitutionalization, this problem has reappeared, often followed by victimization (i.e., assault, rape, robbery). In this study the demographic characteristics, family and childhood history, substance use patterns, and substance-related problems of 40 mild mentally retarded persons are compared with those of 40 mild mentally retarded persons without substance abuse. Similarities with substance abusers who are not mentally retarded are noted. Recommendations for alleviating this serious problem among mentally retarded persons are made.

Adult↗

Arm tremor, tardive dyskinesia, and mental retardation.

The arm tremor of adults diagnosed as having mental retardation and/or tardive dyskinesia was examined through an analysis of the acceleration properties of several arm postures. The degree of arm acceleration was increased in all groups compared to a control group without mental retardation. The tardive dyskinesia and/or mentally retarded groups also showed a shift to a lower modal frequency of physiological tremor. Results showed that both time domain and frequency properties of the tremor acceleration signal are necessary to distinguish between groups. The neuroleptic medication appears to engender a dual and opposing influence on performance in the arm tremor task for the mentally retarded group. The medication reduces behavioral variability as indexed by analyses of arm acceleration over time (time domain) but lowers the modal frequency of physiological tremor.

Adult↗

Mental retardation research in the Soviet Union.

Twenty-six studies on mental retardation conducted in the Soviet Union in the 1970s and 1980s were reviewed: 8 focused on etiological questions; 15, on psychoeducational issues; and 3, on vocational or social policy concerns. The findings, which tend to support general trends found in the United States for individuals with mental retardation, were: higher risk factors for mental retardation for children if the mother rather than the father had mental retardation; lower levels of education, lower occupational status, and a larger number of children for families of children with mental retardation (a significant finding in a society traditionally described as classless); and significantly higher number of males than females among persons with dual diagnoses.

Cross-Cultural Comparison↗

High resolution ultrasound of macro-orchidism in mental retardation.

Asymptomatic testicular enlargement is common in mentally retarded males. This enlargement includes males with non-specific forms of mental retardation as well as a subgroup of males who have a chromosomally recognizable feature involving the X-chromosome ("fragile X" chromosome). We examined the testes of a group of 25 mentally retarded males with macro-orchidism including both fragile X and non-fragile X patients. Apart from large size, the testes scanned were all normal in appearance. In particular, there was no evidence for neoplasia. There were no distinguishing features between the fragile X and the non-fragile X groups.

Evaluation Studies as Topic↗

Short stature, craniofacial dysmorphism and dento-skeletal abnormalities in a large kindred. A variant of K.B.G. syndrome or a new mental retardation syndrome.

A possibly new mental retardation syndrome is described in a large family. The major features of the syndrome are: short statue, craniofacial dysmorphism and dento-skeletal abnormalities. The mode of inheritance of this syndrome appears to be autosomal dominant with a variable degree of expressivity. The possible similarity to another autosomally dominant inherited mental retardation syndrome, "the K.B.G. syndrome" as described by Hermann et al. (1975), is discussed.

Abnormalities, Multiple↗

Role for animal research in the investigation of human mental retardation.

Animal models of the cognitive deficiency states of mental retardation per se are underutilized. A general learning impairment model and a reasoning/insight model, both in rats, were reviewed for parallels to theories of human cognitive deficiency. Predictions were made for the relevance to human mental retardation. Although the parallel development of human mental deficiency research and animal cognition research has precluded substantial benefits at this time, a wider reading of the animal literature by human mental retardation researchers would benefit both animal cognition research and human mental retardation research.

Animals↗

Bezoars: a special cause of ileal obstruction in mentally retarded patients.

Abdominal symptoms in mentally retarded patients may pose difficult diagnostic problems due to an unreliable history of disease and incooperation of the patients. The case histories are presented of three patients with bezoars in the ileum. Delayed diagnosis and signs of peritonitis necessitated emergency surgery. All patients could successfully be treated by small bowel resection and primary anastomosis. In mentally retarded patients with abdominal pain a bezoar must be considered.

Adolescent↗

Assessment of the physical work capacity of institutionalized mentally retarded males.

Educable and trainable mentally retarded males (N=37) were examined for physical work capacity. Analysis of results indicated that the physical work capacity of the test population was 20 to 30% below that cited in the literature for nonretarded subjects of similar age and sex. Evidence also suggested that developmental and maintenance programs of physical fitness were required in order for mentally retarded persons to qualify for and maintain employment on most of the manual occupational tasks cited.

Adolescent↗