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Association of adenosine deaminase polymorphism with mild mental retardation.

The etiology of mild mental retardation remains undefined in about 60% of cases. Even though the causes of mild mental retardation are likely to be heterogeneous, the evidence for genetic involvement is increasing, along with the development of specific diagnostic techniques. To improve our understanding of the genetic basis of mild mental retardation, we explored the role of polymorphisms of adenosine deaminase, an enzyme that is supposed to act as a neuroregulatory protein. To this end, we conducted an association study comparing children with mild mental retardation of unknown origin with two groups of controls: (1) apparently healthy children and (2) children with moderate or severe mental retardation of known etiology. Overall, 338 participants were enrolled in the study. Cases (ie, 80 children) were more likely than controls (ie, 153 healthy children and 105 children with moderate or severe mental retardation) to have the low-activity ADA-Asn 8 (ADA(1) *2) polymorphism (P < .05) and to present the ADA(1) *2/ ADA(2) *1 haplotype. No significant differences were found with respect to adenosine deaminase polymorphisms when comparing the group with moderate or severe mental retardation of known causes and healthy controls. In conclusion, our findings suggest a possible role for a low-activity genotype (ADA-8Asn) (ADA(1) *2) of adenosine deaminase in the pathogenesis of mild mental retardation.

Adenosine Deaminase↗

Haptic asymmetries in persons with and without mental retardation.

Adults with mild mental retardation and equal-MA children and adults without mental retardation were required to (a) tactually examine single letters, two-letter words, bigrams, and Chinese characters with their right or left index finger and (b) indicate whether a visually presented stimulus was the tactually examined stimulus by saying "same" or "different." The left hand was significantly better for "same" responses and the right hand, for "different" responses, suggesting that hemispheric processing is dependent on information-processing requirements rather than type of stimulus. A left hand advantage for "same" Chinese characters by the children and adults without mental retardation was due to an increase in right hand latencies rather than a decrease in left hand latencies, again suggesting that different types of analyses are employed by the two cerebral hemispheres. Adults with mental retardation had the poorest accuracy and slowest latencies for correct "different" responses and significantly less differentiation of "same" and "different" responses (A') for all stimulus types. They identified "same" letters, words, and bigrams significantly faster than Chinese characters with their left hand and showed a trend toward the differential processing of bigrams ("same" latencies) as a function of hand.

Adult↗

Diagnosis and treatment of depression in patients with mental retardation.

Depression in mentally retarded individuals is not uncommon and usually is treatable. However, studies of the diagnosis and treatment of psychiatric illnesses in general and depression specifically in this population are relatively rare. Although Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria can be applied to mildly and moderately retarded individuals, the diagnosis of depression in those with intelligence quotients below 35 is challenging. However, the diagnosis of depression in the latter group is possible using modified criteria emphasizing observational data. Criteria include symptoms such as sadness, irritability, decreased social interaction, regression of skills, sleep disturbances, diurnal variation, and aggression. Furthermore, there is a growing body of evidence that antidepressant treatments, especially administration of selective serotonin reuptake inhibitors, are effective in treating depression in mentally retarded patients. This article reviews numerous studies elaborating on the diagnosis, phenomenology, and treatment of depression in mentally retarded individuals.

Aggression↗

Status of hepatitis B screening and vaccine use in facilities for mentally retarded persons.

State mental retardation program directors in all 50 states were questioned on the status of hepatitis B screening and immunization programs in facilities for mentally retarded persons. Results from 43 states indicated serologic screening of selected residents and staff in 37 states and limited use of the new hepatitis B vaccine in 36 states, primarily in institutions and group homes. Not all states were sharing results of screening tests with school systems in which residents were enrolled. Attention should be addressed to the need for vaccination in community settings and the development of guidelines for schools in preventing the transmission of hepatitis B.

Education of Persons with Intellectual Disabilitie↗

[Sterilization of mentally retarded women].

Seven mentally retarded women were sterilized in the Department of Obstetrics and Gynaecology of Medical School Hannover between 1.6.74 and 1.6.81. The decision to operate proceeded only after careful consideration by the director of the clinic. Each case was documented with proof that improvement of the mental situation was unprobable and that sterilization seemed highly desirable. In spite of strong reservation the sterilization of a mentally retarded may medically and ethically be justified in exceptional cases. The operation seems possible by the following: The sterilization may only be performed if the patient does not obviously refuse it. Diagnosis and prognosis of the mental handicap must undoubtedly be proven. If the patient cannot judge the consequence of the operation the legal guardian must decide for her. The court must consent in these cases. Regarding legal theory the decision by the guardian is an open question.

Adolescent↗

Metoprolol for aggressive behavior in persons with mental retardation.

Persons with mental retardation sometimes exhibit behaviors that are difficult to control. Use of neuroleptic medications may be limited by side effects or ineffectiveness. Beta blockers such as propranolol and metoprolol have been shown to decrease aggressive and impulsive behaviors in some patients with mental retardation.

Adolescent↗

Treatment of psychiatric morbidity in the mentally retarded adult.

302 mentally retarded (MR) adults, representative of the total Danish MR population were surveyed for present psychiatric treatment and care. The care was generally satisfactory with the majority living under good conditions and provided with a fairly sufficient level of training and occupational therapy. The psychopharmacological treatment was balanced and performed after modern principles. However, more elaborate psychiatric treatment approaches, such as psychotherapy and behavioural therapy, were only used in very few cases, despite the obvious need. A brief review is given and a guide to the literature on psychiatric treatment in the field of mental retardation.

Adult↗

Development of bowel and bladder control in the mentally retarded.

For the mentally retarded, bowel and bladder control are important prerequisites for an independent life. A study of these functions was made in a cohort of children born in Northern Finland in 1966. Relevant data up to the age of 20 years were obtained for 105 of the 132 children with mental retardation (IQ less than 70) who were alive at that age. 80 per cent had attained bowel control at a mean age of 4.2 years, but 30.5 per cent were still encopretic at seven years, and 19 per cent at the age of 20 years. Full bladder control had been achieved by 62.9 per cent at the age of seven and by 82.9 per cent at the age of 20. It is concluded that systematic, appropriate toilet training could improve these figures markedly.

Adult↗

Nonspecific X-linked mental retardation--a review.

Mental retardation, in particular the "X-linked" type, has interested geneticists for many years. An increasing number of affected families have been to genetic counselling centres, and an effort is being made to find clinical and cytogenetic methods so a reliable diagnosis can be made. This would enable the detection of carriers and the opportunity to offer prenatal diagnosis. Many questions remain regarding X-linked mental retardation, its causes, diagnosis, and prevention. In this article we try to give an overview about the status of our present knowledge and the questions to be answered in the future.

Chromosome Fragility↗

FRAXA screening in Brazilian institutionalized individuals with nonspecific severe mental retardation.

Individuals with mental disabilities are a heterogeneous group, mainly when we consider the etiology of mental retardation (MR). Recent advances in molecular genetics techniques have enabled us to unveil more about the molecular basis of several genetic syndromes associated with MR. In this study, we surveyed 85 institutionalized individuals with severe MR, 38 males and 47 females, by two molecular techniques, to detect CGG amplifications in the FMR1 gene. No FRAXA mutations were found in the FMR1 gene, reinforcing the low prevalence of Fragile X syndrome among institutionalized individuals with severe MR. We considered the PCR protocol used adequate for screening males with mental retardation of unknown etiology. The use of the Southern blot is still necessary for the decisive diagnosis of the Fragile X syndrome. To exclude chromosomal abnormalities associated with MR as a possible cause of the phenotype in these individuals, G-banded chromosome analysis was performed in all patients and 7.3% of chromosomal aberrations were found. Our results are similar to those reported previously and point to the necessity of expanding the molecular investigation toward other causes of MR, such as subtle chromosomal rearrangements, as suggested recent by a combination of fluorescence in situ hybridization (FISH) and PCR studies.

Adolescent↗

Self-invented addition strategies by children with mental retardation.

Children with mental retardation often seem incapable of self-initiated learning. A training experiment was designed to determine whether such children could spontaneously invent more efficient addition strategies for calculating simple sums; apply these strategies to larger, unpracticed combinations; and retain these strategies after 5 months. An experimental group and a control group were shown a basic concrete counting procedure. Over 6 months, the experimental group was given regular opportunities to practice computing sums. Many of them invented calculational short cuts. On immediate and delayed posttests, they used significantly more sophisticated strategies than did control participants. Results suggest that children with mental retardation can invent, transfer, and retain strategies for learning tasks.

Adolescent↗

The effects of the everyday environment on epileptic activity in three mentally retarded individuals.

Three mentally retarded epileptic subjects with frequent epileptiform EEG paroxysms were monitored with simultaneous radio-telemetered EEG and video recording while they were exposed to their everyday environmental conditions. These conditions included prompts and reinforcement for performing vocational training tasks, speech therapy, eating and drinking, and cues for resting, waiting, playing, exercising, and relaxing. Epileptiform EEG activity and the occurrence of clinical seizures varied as a function of the particular environmental conditions. Epileptiform EEG discharges were longer in duration, and clinical seizures were more frequent in all 3 subjects during conditions which produced inactive behavior than during conditions which produced active behavior. The modulation of epileptiform activity by everyday environmental conditions carries implications for (1) the optimum structuring of the environment for mentally retarded patients with frequent, subtle seizures, and (2) the analysis of the effects of epileptiform discharges on behavior.

Activities of Daily Living↗

Effect of peer interaction on the problem-solving behavior of mentally retarded youths.

Educable mentally retarded young adults were given a one-bit logic problem (Experiment 1) or a test of conservation (Experiment 2) and classified as either low or high performers. In a second session the low performers were paired with high performers, and the dyads were required to agree on the solution to the problems presented. A control group of low performers was simply tested individually in a second session. One month later all the low performers were retested on the same logic problems or on an alternate form of the conservation test. No significant differences were observed in Experiment 1. In Experiment 2, the conservation scores of subjects who participated in the peer interaction were higher than those of controls on the posttest; however, based on responses to the lie item, we concluded that the experimental subjects had simply learned to respond "same" and to parrot a verbal statement. No such mimicking was possible in the logic problem. Results suggest that peer interaction is not a particularly effective method for enhancing the problem-solving ability of mentally retarded individuals.

Adult↗

Oral function in the physically handicapped with or without severe mental retardation.

Neuromotor handicaps and mental retardation have been associated with various types of dental malocclusions and oral dysfunction. In this study the specific role of mental status on oral functions was examined. For this, oral function capacity was compared between two groups of physically handicapped children and young adults, one with a physical handicap alone, the other with mental retardation. The latter were found not only to be significantly more motor-impaired in general, but also were found to have significantly more deficient oral functions (speech, swallowing and chewing). Mentally retarded also showed significantly more frequent involvement with regard to some other characteristics of oral function and oral conditions, such as lip seal, tongue posture and drooling. As oral dysfunction may cause dental malocclusion, it seems likely that the deviating or immature oral functions in the mentally retarded group may explain earlier observations of a higher prevalence and often more severe malocclusion in these individuals, compared to those who are handicapped.

Adolescent↗

Clinical and molecular contributions to the understanding of X-linked mental retardation.

X-linked mental retardation (XLMR) was first recognized in the 1940s, long before any human genes had been mapped. It is now estimated that XLMR has a prevalence of 2.6 cases per 1,000 population, accounting for over 10% of all cases of mental retardation. It is likely that over 150 genes are associated with XLMR. Fragile X syndrome, the most common form of XLMR, has a prevalence of about 1 in 4,000 males. Clinically, XLMR exists in syndromic (mental retardation with other somatic, neurological, behavioral, or metabolic findings) and nonsyndromic (mental retardation without other distinguishing features) forms. However, recent findings have caused this distinction to become blurred as mutations in some genes have been found in both syndromic and nonsyndromic XLMR. Progress in XLMR gene identification has allowed some insight into various pathways and cellular activities involved in developing cognitive functions. The genes involve signaling pathways, transcription factors, cytoskeletal organization, cell adhesion and migration, and maintenance of the cell membrane potential.

Chromosome Mapping↗