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PubMed2003

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients.

BACKGROUND: The gene encoding fatty acid CoA ligase 4 (FACL4) is mutated in families with non-specific X linked mental retardation (MRX) and is responsible for cognitive impairment in the contiguous gene syndrome ATS-MR (Alport syndrome and mental retardation), mapped to Xq22.3. This finding makes this gene a good candidate for other mental retardation disorders mapping in this region. METHODS: We have screened the FACL4 gene in eight families, two MRX and six syndromic X linked mental retardation (MRXS), mapping in a large interval encompassing Xq22.3. RESULTS: We have found a missense mutation in MRX68. The mutation (c.1001C>T in the brain isoform) cosegregates with the disease and changes a highly conserved proline into a leucine (p.P375L) in the first luciferase domain, which markedly reduces the enzymatic activity. Furthermore, all heterozygous females showed completely skewed X inactivation in blood leucocytes, as happens in all reported females with other FACL4 point mutations or deletions. CONCLUSIONS: Since the FACL4 gene is highly expressed in brain, where it encodes a brain specific isoform, and is located in hippocampal and cerebellar neurones, a role for this gene in cognitive processes can be expected. Here we report the third MRX family with a FACL4 mutation and describe the development of a rapid enzymatic assay on peripheral blood that we propose as a sensitive, robust, and efficient diagnostic tool in mentally retarded males.

Adolescent↗
PubMed1995

Applied humanism: a model for managing inappropriate behavior among mentally retarded elders.

1. Federal regulations mandate that elderly persons with mental retardation are provided with specialized programming which meets with the needs of the individual. 2. Behavior modification techniques employed to provide services to elderly persons with mental retardation may not meet individual patient needs, lacks constructs which apply to nursing philosophy/process and is difficult to implement with today's limited resources. 3. The philosophy of Applied Humanism may be more congruent with nursing practice, can be utilized with nursing process and can meet the individual needs of elderly patients with mental retardation.

Aged↗
PubMed1986

The eye in idiopathic mental retardation.

An ophthalmic evaluation was undertaken in 250 consecutive cases of mental retardation where no specific etiological diagnosis could be established, ie, "idiopathic" mental retardation. Visual impairment was noted in 59 of these patients, and was mainly due to primary optic atrophy, besides cortical blindness, strabismus, nystagmoid eye movements, refractive errors and various associated congenital ocular anomalies. It was encouraging to find that 191 children had active vision, including 10 patients with definite disc pallor. The importance of useful vision in these retarded children cannot be overemphasized. This is probably the first report in the literature analyzing the ocular changes and their significance in a fairly large series of idiopathic mental retardation.

Child↗
PubMed1991

Relation between receptive language and cognitive maturity in persons with mental retardation.

We examined the correlations between receptive language level and performance on indices of nonverbal cognitive functioning for 20 persons with mental retardation and for 20 children without mental retardation matched to them on nonverbal MA. The correlations suggested that the retarded group focused on the formal, sequential properties of language. The correlations also suggested that the nondisabled group placed less emphasis on the formal, sequential properties of language and more on semantic, conceptual properties. These differences in approach may explain why the persons with mental retardation did poorly on the task of understanding spoken language compared to the children without mental retardation.

Adolescent↗
PubMed1980

Effects of age on adaptive behavior levels and academic skill levels in autistic and mentally retarded children.

This study investigated the effect of age on adaptive behavior and academic skill in autistic and mentally retarded children. Subjects were 47 autistic and 128 mentally retarded children from a special school. Cross-sectional comparisons were made between junior and senior groups using ratings obtained from teachers on adaptive behaviors and academic skills. We found that the levels of toilet training, eating skills, participation in group activities, and self-control in the autistic children improved significantly with age. The skills of number concepts in the autistic children also improved with age. However, these adaptive and academic levels were in general significantly lower than those of the mentally retarded children. The levels of initiative did not improve significantly in either the autistic or the mentally retarded children, and they were significantly lower in the autistic children. The implications of these findings in the context of our previous study on the changes of communication and maladaptive behaviors with age in the autistic children are discussed.

Activities of Daily Living↗
PubMed1992

Social evaluation of behaviors comprising three social skills and a comparison of the performance of people with and without mental retardation.

We evaluated whether behaviors commonly taught to persons with mental retardation as part of three important social skills (following instructions, accepting criticism, and negotiating to resolve conflicts) were responded to favorably by other people. People with mental retardation who lived in the community and other people from the community participated in videotaped role plays involving each of the social skills. The performances of participants were scored according to behavioral checklists. Participants with mental retardation scored as well as other participants on following instructions and accepting criticism but lower on negotiating. Community members were asked to evaluate how well the participants did in the videotaped role-play situations. There were high positive correlations between the scores derived from the behavioral checklists and the evaluations of community members for both groups of participants.

Adolescent↗
PubMed1991

Side effects during lithium treatment for psychiatric disorders in adults with mental retardation.

Previous clinical trials using lithium with individuals who have mental retardation have not emphasized the incidence of side effects. During a 58-consecutive-week period at an outpatient clinic for adults with psychiatric illness and mental retardation or borderline intellectual functioning, 67% (10 out of 15) patients had side effects. The percentage is similar to reports of side effects during lithium treatment in the general population. Results suggest that adults with mental retardation who take lithium may be as prone to side effects as those in the general population.

Adult↗
PubMed1981

Evaluation of the effects of SOMPA measures on classification of students as mildly mentally retarded.

Recent suggestions for changes in classification criteria for mild mental retardation, advocated in the literature and by the courts and Federal agencies, were investigated with samples of children from four sociocultural groups. Application of the requirements of sociocultural background and broadly conceived adaptive behavior, using the System of Multicultural Pluralistic Assessment Adaptive Behavior Inventory for Children and Estimated Learning Potential measures, sharply reduced the number and percentages of children eligible for mild mental retardation classification in all sociocultural groups. Implications for the diagnostic construct of mild mental retardation and for the concept of bias in assessment were discussed.

Child↗
PubMedDate not supplied

Nomenclature guidelines for X-linked mental retardation.

Nomenclature guidelines are proposed for non-specific and for syndromal forms of X-linked mental retardation. Non-specific mental retardations (MRX) are given unique symbols for each family (MRX1, MRX2, MRX3 ...). Syndromal mental retardations (MRXS) which do not as yet have specific symbols are given unique interim symbols for each syndrome (MRXS1, MRXS2, MRXS3 ...). The prerequisite for assignment of serial MRX and MRXS gene symbols is a minimum lod score (or multipoint lod score) of +2 between the MR locus and one or more X chromosome markers. Prior approval of availability for proposed gene symbols must be obtained from the Nomenclature Committee of the Human Gene Mapping Workshops.

Chromosome Mapping↗
PubMed1989

Autosomal dominant microcephaly with mental retardation.

A 3-year-old girl, her mother, and maternal uncle had microcephaly and mental retardation. Their facial appearance is characterized by deep-set eyes, short philtrums, and a "beaked" nose. The mother and uncle live in an adult foster care facility because of mental retardation. The 3-year-old girl has a developmental quotient of 55. Mother has normal phenylalanine level and the child's chromosomes are normal. This appears to be a first report of a autosomal dominant form of microcephaly associated with mild to moderate mental retardation in contrast to absent or mild mental retardation described in earlier reports.

Child, Preschool↗
PubMed1991

Mortality in a large southeastern facility for persons with mental retardation.

Mortality rates for institutionalized persons with mental retardation were presented. Rates were provided for two time intervals, 1974 through 1979 and 1980 through 1985, and by age, race, and gender. Consistent differences between black and white residents or by gender were not indicated. However, significant improvement in mortality did occur between the two time periods. Persons with profound retardation were found to have higher mortality than those whose retardation was mild to severe. Respiratory disease was the most prevalent cause of death among the individuals with profound mental retardation, whereas heart disease and cancer were the most common causes of death among persons with mild, moderate, or severe retardation. Aging of the population was noted over the period of the study, indicative of the increasing frailty of the institutionalized population.

Adolescent↗
PubMed1980

Nonspecific X-linked mental retardation I: a review with information from 24 new families.

Clinical manifestations and other aspects of nonspecific X-linked mental retardation are reviewed using data from the literature and information on affected males in 24 new families ascertained in British Columbia. A great degree of variability was apparent in the mental abilities of affected males. Speech defects, other CNS disorders and minor physical changes such as "big" ears or a highly arched palate were not present in many cases. Evidence for the existence of a clinical entity of mental retardation associated with the fragile site at Xq27 or 28 and macro-orchidism is discussed. Genetic phenomena of reduced penetrance in males and of partial expression in females with respect of X-linked recessive genes are examined. Consideration is given to the question of whether this type of mental retardation is due to X-linked recessive or autosomal dominant sex-limited genes. Most ascertained cases of X-linked mental retardation are from families of northern European extraction. Recommendations are made regarding the diagnosis and counseling of X-linked mental retardation cases.

Central Nervous System Diseases↗
PubMed1996

Facial stereotypic movements and tardive dyskinesia in a mentally retarded population.

The facial stereotypies of adults diagnosed as having mental retardation and tardive dyskinesia were examined through a kinematic analysis of video-taped lip and tongue motions. A control group of healthy adult subjects without mental retardation was also examined in the production of preferred rates of lip and tongue oscillatory motions to provide a basis to assess the degree of movement variability in the stereotypies. The inter- and intraindividual variability of the movement form characteristics of the lip and tongue stereotypic motions was higher in the subjects with mental retardation. Results suggest that the low variability of discrete properties of movement kinematics may not be a defining feature of stereotypies. The concept of invariance in stereotypies may relate only to the topological kinematic properties of the movement sequence that provide the basis to infer that the same stereotypic movement sequence was reproduced from observation to observation.

Adult↗
PubMedDate not supplied

Prevalence of mental retardation among children in Saudi Arabia.

This survey determined the prevalence and regional distribution of mental retardation among children in Saudi Arabia. Data were analysed from a population-based national survey conducted during 1996-99, in which 60,630 children aged up to 18 years were screened using IQ tests and questionnaires completed by physicians. The prevalence of mental retardation was 8.9 per 1000 children, a rate similar to that reported in other countries. Moderate or severe retardation was classified in 70.9% of these children. Of the mentally retarded children in the 0-18 years age range, 83.2% were not attending school. Special educational programmes are needed to improve the quality of life of mentally retarded children.

Adolescent↗
PubMed2004

Sexual abuse prevention for individuals with mental retardation: considerations for genetic counselors.

It is now widely recognized that children, adolescents, and adults with mental retardation are especially vulnerable to sexual abuse. Because at least 10% of genetic conditions are reported to include mental retardation as a feature, the provision of services to individuals with mental retardation represents a substantial portion of the case load for many genetic counselors. Our objective is to educate genetic counselors and other health professionals about this vulnerable population in order to enhance the frequency and efficacy of inquiry into sexual education and sexual abuse prevention training for patients with mental retardation. The following review article is intended to assist genetic counselors by increasing their knowledge of factors that lead to sexual abuse and provides recommendations for integrating this information into the counseling interaction.

Adolescent↗
PubMedDate not supplied

A strategy for screening memory functions in individuals with mental retardation.

In an attempt to develop a protocol for evaluating mentally retarded clients from a neurobehavioral perspective, a strategy for screening complex verbal, simple verbal, simple visual, and spatial working memory was developed. This strategy results in numeric values on each of the aspects of memory, and it can contribute to a "global index" of memory function. The strategy is described so that it might be adopted by other practitioners interested in screening their client's ability to store and retrieve newly acquired information. Descriptive data for 125 persons carrying diagnoses of mild, moderate, and severe mental retardation are presented. The procedure was found to discriminate well between the various levels of mental retardation, correlate reasonably well with IQ, and possess relatively good test-retest reliability.

Adolescent↗
PubMed1991

A 15-item checklist for screening mentally retarded males for the fragile X syndrome.

A 15-item checklist, including physical and behavioral features frequently observed in fragile X syndrome, was used in a prospective study of 188 mentally retarded males in order to identify males at risk for this syndrome. Of the 188 males, 19 were found to have the fragile X syndrome, while the remaining 169 males had no recognizable cause of their mental retardation, including normal chromosomes. Significant differences (p less than 0.01) were found between mentally retarded males with and without the fragile X syndrome with increased hyperactivity; shorter attention span; more tactile defensiveness, hand-flapping, perseverative speech, and hyperextensibility; large ears and testes; higher frequency of simian creases or Sydney lines and plantar creases; and more positive family histories of mental retardation in the fragile X syndrome males. Multiple regression and discriminant analyses of the 188 males indicated several physical features were useful predictors for inclusion in the fragile X syndrome group. An overall correct classification rate of 93% was achieved based on 6 variables (plantar crease, simian crease, hyperflexibility, large testes, large ears, and a positive family history of mental retardation) that were entered into the discriminant equation. Therefore, our experience with a 15-item checklist suggests the potential of screening for the fragile X syndrome in mentally retarded males and that 6 of the 15 variables were particularly good predictors of this syndrome.

Adolescent↗
PubMed1995

Psychopathological disorders in a population of mentally retarded young adults.

Nosographic, clinical, therapeutic and psychosocial aspects of psychopathological disorders in 43 mentally retarded patients followed from 1988 to 1991 are presented. Mental problems in mentally retarded subjects are linked to mental illness but do not form a continuum with it. The prognosis is generally favourable. Great attention must be given to the psychosocial aspects as social integration is almost always at risk in the mentally retarded.

Adolescent↗