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Clinical and cytogenetic survey of institutionalized mentally retarded patients with emphasis on the fragile-X syndrome.

A detailed clinical and cytogenetic survey for the fragile-X syndrome was undertaken on 201 institutionalized mentally retarded males with no previously recognized cause of retardation, and the causes of mental retardation were summarized from a total of 595 institutionalized male and female patients after the review of their medical records including clinical and cytogenetic data. Among the 201 males clinically and cytogenetically examined, five (2.5%) had abnormal chromosome findings with four (2%) having the fragile-X syndrome. Twelve of the males (6.0%) were diagnosed with a single gene disorder. In the present study, mental retardation was classified as possibly due to multifactorial causes when a genetic syndrome, chromosome abnormality or environmental insult was not identified, but mental retardation was present in one or more first and/or second degree relatives, but did not follow a recognizable inheritance pattern. Hence, mental retardation was recorded in other family members and may indicate possible multifactorial causes in 45 males (22.4%). An environmental insult was noted in 25 males (12.4%); unexplained birth defects in three males (1.5%); a specific condition or diagnosis identified, but cause unknown (e.g. Rubinstein-Taybi syndrome) in 10 males (5%); and no diagnosis made in the remaining 101 males (50.2%). Of all 595 patients (334 males and 261 females), including the 201 males who had undergone a detailed clinical and cytogenetic evaluation, 39 (6.6%) had abnormal chromosome findings, with Down's syndrome noted in 31 of the patients. Twenty-five patients (4.2%) were diagnosed with a single gene disorder while mental retardation was noted in other family members and may indicate possible multifactorial causes in 64 patients (10.8%). An environmental insult was noted in 170 patients (28.6%); unexplained birth defects in 17 patients (2.9%); a specific condition or diagnosis but cause unknown in 27 patients (4.5%); and no diagnosis made in 253 patients (42.5%). Clinical and cytogenetic screening of mentally retarded patients for the fragile-X syndrome and other causes of mental retardation is helpful in identifying individuals and their families who may benefit from genetic services such as counseling and treatment. This study was performed over an approximate 2 year period from 1987 to 1989.

Adolescent↗

Prevalence of hepatitis A in an institution for the mentally retarded in an intermediate endemicity area: influence of age length of institutionalization.

OBJECTIVE: This study aimed to examine the prevalence of antibodies against hepatitis A (anti-HAV) in a population of institutionalized mentally retarded persons compared with that of institutionalized non-mentally retarded persons in an area with moderate endemicity of HAV infection. METHODS: The study population was a group of mentally retarded persons aged between 10 and 30 years, institutionalized in one residence in Madrid, Spain. A group of non-mentally retarded subjects in the same age range was chosen as controls. Information about demography and duration of institutionalization was obtained by the investigator. Four drops of whole blood were obtained from each person by finger-stick, collected on filter paper, air-dried and stored at +4 degrees C until antibody determination. Eluates were tested by an ELISA method. RESULTS: A total of 314 institutionalized subjects were included: 157 mentally retarded (mean age and mean duration of institutionalization were 24.4+/-3 and 9.7+/-5 years respectively) and 157 non-mentally retarded (mean age and mean duration of institutionalization were 19.2+/-5 and 4.6+/-3 years respectively). The prevalence of anti-HAV antibody was 54% (95% confidence interval (CI) 50-58) in mentally retarded and 22% (95% CI 19-25) in non-mentally retarded [P<0.001; odds ratio (OR): 4.2 (95% CI 2.5-7)]. In both groups, these differences were not statistically significant for anti-HAV antibody prevalence between persons institutionalized for >5 years compared with those institutionalized for < or = 5 years. CONCLUSIONS: There results indicate that in an area of moderate endemicity the institutionalized mentally retarded are at increased risk of having acquired hepatitis A infection compared to the non-mentally retarded. In these institutionalized persons, regardless whether they are mentally retarded or not, prevalence is not influenced by age or length of stay in institutions.

Adolescent↗

A new depression scale designed for use with adults with mental retardation.

A sample of 51 mentally retarded adults with DSM-III-R criteria for depressive disorders, and 41 without depressive disorders but a high rate of other psychiatric disorders were rated on 27 items from the Comprehensive Psychopathological Rating Scale (CPRS). The newly developed CPRS depression subscale consists of nine items which can also be assessed in almost all of the people with severe or profound mental retardation in the sample. The scale is able to distinguish between depressive and non-depressive cases, and between subgroups of depression. The two factors derived from factor analysis were open to clear interpretation.

Adjustment Disorders↗

Time and money for vocational rehabilitation of clients with mild, moderate, and severe mental retardation.

Mildly, moderately, and severely mentally retarded vocational rehabilitation clients comprised a random national sample of 600 clients. One-half of the sample had been closed (services completed) "rehabilitated", and half had been closed "nonrehabilitated." Variables selected for analyses were time in referral, training, and rehabilitation process; dollars in evaluation, facilities, all services, and earnings. Rehabilitated clients tended to require more time in referral, less moneys for extended evaluation and rehabilitation facilities, and earned more per week than the nonrehabilitated clients. Severely mentally retarded clients required more time in training and higher costs for extended evaluation, rehabilitation facilities, and all services than the moderately or mildly retarded groups. A consistent interaction across five variables indicated that the greatest amounts of service in time and money went to the nonrehabilitated severely retarded group.

Cost-Benefit Analysis↗

Motivational orientation and span of apprehension in children with mental retardation.

Children diagnosed as mildly mentally retarded were examined with respect to performance on Estes's (1965) span-of-apprehension task. Based on their scores on the Simplified Version of the Intellectual Achievement Responsibility scale, we divided subjects into a "learned-helpless" group and a "mastery-oriented" group. Motivational orientation had a significant effect on performance, with the mastery-oriented subjects demonstrating higher detection accuracies than the learned-helpless subjects. These results have implications regarding not only centrally mediated attentional functioning in children with mental retardation, but also interpretation of certain previous findings with the span-of-apprehension task.

Attention↗

The changing conception of mental retardation: implications for the field.

The 1992 American Association on Mental Retardation's (AAMR) definition and classification of mental retardation is different from the previous classification system in that: (a) a single diagnostic code of mental retardation is used if the person meets the three criteria of age of onset (18 or under), significantly subaverage abilities in intellectual functioning, and related limitations in two or more adaptive skills areas; (b) the person's strengths and weaknesses are described in reference to four dimensions: intellectual functioning and adaptive skills; psychological and emotional well-being; health, physical well-being, and etiology; and life activity environments; and (c) a profile of needed supports is developed across the four dimensions. In this article we discussed six major implications of the 1992 System for the field of mental retardation.

Activities of Daily Living↗

[Chromosome subtelomeric analysis by FISH in patients with mental retardation].

OBJECTIVE: To assess subtelomeric chromosome anomalies in patients with idiopathic mental retardation (MR). METHODS: Subtelomeric screening was performed in 46 patients with undiagnosed mental retardation. The patients were selected based on the following criteria: (1) MR with two or more of the following conditions: dysmorphic features, prenatal growth retardation, postnatal growth abnormalities, a suggestive family history; (2) chromosome karyotype at the level >450 bands being normal; (3) exclusion of other identified genetic or environmental diagnosis. Fluorescence in situ hybridization (FISH) was performed using ToTelVysion DNA probes. Abnormal findings were confirmed by FISH with a specific subtelomeric probes and family studies were carried out to determine its inheritance. RESULT: Clinically significant aberrations were detected in two cases with 6q and 2q terminal microdeletion. The deletion in one case was inherited from a similarly affected father. Subtle chromosomal subtelomeric abnormalities occurred with a frequency of 7.6% in children with moderate to severe mental retardation and of 3.0% in the children with mild retardation. CONCLUSION: The results suggest that cryptic abnormalities of the ends of chromosomes might represent a significant cause of mental retardation, and screening for subtelomeric rearrangements might be warranted in children with unexplained mental retardation.

Adolescent↗

Using sensorimotor integrative treatment with mentally retarded adults.

Thirty-four mentally retarded, institutionalized adults were subjects in a study of the effects of sensorimotor integrative treatment procedures on sensorimotor development. The 25 subjects in the experimental group received group sensorimotor integrative treatment in addition to regular institutional programming; the 9 subjects in the control group received only the regular institutional programming. The Sensorimotor Performance Analysis was used to test sensorimotor performance of all subjects four times during the 12-month study. Results showed that both the experimental group and the control group made gains in sensorimotor development, with no significant differences between groups. The findings indicate that treatment procedures for improving sensorimotor development of the mentally retarded adult need further examination so that appropriate modalities can be developed. Periodic reassessment of the client following completion of treatment is suggested because of possible delays in improvement of sensorimotor development.

Adult↗

Barbadian children's understanding of mental retardation.

Barbadian children's understanding of the nature and causes of mental retardation, and of the characteristics of mentally retarded children, was investigated using a questionnaire previously employed in the United States by Siperstein and Bak (1980). Subjects were 199 10 to 11-year-olds from four elementary schools in Barbados. Results indicated that many Barbadian children, like their American counterparts, confused retardation with orthopedic disabilities and, to a lesser extent, mental illness. A higher proportion of Barbadian children than of American children thought mental retardation was caused by post-natal factors such as childhood accidents, illnesses, parental maltreatment, and drug-taking. Equal proportions of boys and girls mentioned causes associated with the pregnant mother, although girls identified a greater variety of such factors. Pupils generally demonstrated a fairly high degree of empathy with the needs and feelings of mentally retarded peers, and recent public awareness campaigns appear to have had a definite impact upon results.

Attitude↗

Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes.

The fragile X mental retardation syndrome is caused by large methylated expansions of a CGG repeat in the FMR1 gene that lead to the loss of expression of FMRP, an RNA-binding protein. FMRP is proposed to act as a regulator of mRNA transport or translation that plays a role in synaptic maturation and function. The recent observations of unexpected phenotypes in some carriers of fragile X premutations suggest a pathological role, in these individuals, of an abnormal FMR1 mRNA. FMRP was recently shown to interact preferentially with mRNAs containing a G quartet structure. Mouse and Drosophila models are used to decipher the function of FMRP, which was found to inhibit translation of some mRNA targets, but may be stimulatory in other cases. Proteins interacting with FMRP have been identified, and suggest a link with the Rac1 GTPase pathway that is important in neuronal maturation. Recent advances also include identification of other genes implicated in X-linked mental retardation.

Brain↗

Attitudes of high school students toward individuals with mental retardation.

The attitudes of 144 high school students toward individuals who have mental retardation were examined using the Mental Retardation Attitude Inventory-Revised (Antonak & Harth, 1994). The inventory is divided into four subscales consisting of statements regarding integration-segregation, private rights, social distance, and subtle derogatory beliefs. Each subscale was assessed along with gender, frequency of contact with individuals who have mental retardation, and prior knowledge about mental retardation. Results indicate that gender and frequency of contact does influence attitudes. These results are significant because these high school students either are or will soon become adults and impact the community with their attitudes.

Adolescent↗

Assessment of loneliness at school among children with mild mental retardation.

This study was designed to determine whether children with mild mental retardation understand the concept of loneliness, whether their feelings of loneliness at school can be reliably assessed, and whether there are differences in loneliness between children with and without mental retardation. Results from a sample of 62 students with mild mental retardation and 62 students without retardation, ages 8 through 13, indicated that (a) high percentages of both groups understood what loneliness means, (b) a loneliness questionnaire yielded satisfactory internal reliability with both groups, and (c) boys but not girls with mental retardation reported significantly more loneliness than did children without mental retardation. Suggestions were made for future research on loneliness in school settings.

Adolescent↗

Fragile X chromosome in institutionalized male adults with mental retardation.

A clinical and cytogenetical study of mentally retarded male adults with an IQ of below 35 has been carried out in the Ranzan Colony for Mental Retardates, Saitama, Japan. The study showed one fragile X-positive retardate with IQ 23 in the 53 residential retarded patients, giving a hemizygote prevalence of 1.9% (1/53). Macroorchidism and elongated ears, practical markers for the clinical diagnosis of fragile X-linked mental retardation, were also detected in this 43-year-old subject with fra(X)(q27.3). He is amiable and no autistic behavior has been observed. The subject, however, has been suffering from epilepsy since childhood and has cataract in both eyes.

Adult↗

Visual scanning patterns of adolescents with mental retardation during tracing and copying tasks.

Visual scanning patterns of individuals with mental retardation and MA- and CA-matched individuals without mental retardation were recorded during visuo-motor tasks. In some conditions of both the tracing and copying tasks, the mean distances between eye fixation points and penpoints were shorter for the mentally retarded group than for those in both nonretarded groups. Nevertheless, the former showed poorer performance on the tasks than did the latter two groups, suggesting that subjects with mental retardation paid more attention to penpoints than to the succeeding or passed points of a model line. Results are consistent with previous findings that people with compared to those without mental retardation have a poorer ability to process more than two stimuli at the same time.

Adolescent↗

Why are the blind and severely visually impaired children with mental retardation much more retarded than the sighted children?

Five per cent of mentally retarded children in Denmark have a visual acuity below 6/60 as compared to 0.02% in the normal child population. Profound mental retardation was more prevalent among the visually impaired than among the sighted patients. An analysis was performed concerning the correlation between the degree of retardation and the severity of visual impairment, chronological age, number of complicating signs, and degree of motor impairment. The degree of mental retardation was also compared with the aetiology of visual impairment. Severe motor impairments was closely correlated with profound mental retardation.

Adolescent↗

A SURVEY OF TOXOPLASMOSIS AMONG MENTALLY RETARDED CHILDREN.

To determine what role, if any, toxoplasmosis plays in the mental retardation of children, sera from 345 mentally retarded children were tested for the presence of antibodies to Toxoplasma gondii. The serological tests employed were the complement-fixation, the Sabin-Feldman dye test and the immunofluorescence test. The donors were also skin-tested with toxoplasmin.Of 345 mentally retarded donors nine gave a positive skin reaction, 15 possessed complement-fixing antibodies, 21 had immunofluorescent antibodies and 45 had dye test antibodies to T. gondii.The incidence of antibodies to T. gondii in the mentally retarded group was approximately the same as in the normal control group of the same age, and less than in the group suspected of having toxoplasmosis. It is concluded that in the children in this study toxoplasmosis played little or no role as a predisposing factor in the occurrence of congenital mental deficiency.

Adolescent↗

Theoretical notions of intelligence and mental retardation.

A theory of the cause of mental retardation that views human intelligence as a set of independent abilities organized in a complex system was presented. Mental retardation is conceived as a deficit in a few of the independent abilities having high centrality (i.e., processes most important in system functioning). Abilities affected and severity of impairment vary across individuals. Besides making specific predictions that allow rejection, the theory can be used to account for differences between Ellis's deficit theory and Zigler's developmental theory of mental retardation.

Human Development↗

Psychotropic medication in adults with mental retardation: prevalence, and prescription practices.

People with mental retardation comprise an overmedicated population. Studies the last 20 years or so indicate that nearly 50% of people with mental retardation receiving care have been using psychotropic medication, in the treatment of psychiatric disorders and/or problem behaviours. The recent years guidelines for prescription of psychotropics have been developed, emphasizing, e.g. the presence of a diagnosis, consideration of alternatives, and evaluation. In spite of all this, we found that 37% of people with mental retardation in one Norwegian county were using psychotropics, mostly neuroleptics. Moreover, prescriptions frequently violated current guidelines, especially when conducted by general practitioners. For example, a lot of prescriptions had not been indicated by a diagnosis, alternatives to medications had rarely been explored, and evaluation of effects and side effects were exceptions. Psychiatrists complied more with current guidelines. Implications of the findings are discussed.

Adolescent↗