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Molecular insights into mental retardation: multiple functions for the Fragile X mental retardation protein?

Mental retardation is a frequent cause of intellectual and physical impairment. Several genes associated with mental retardation have been mapped to the X chromosome, among them, there is FMR1. The absence of or mutation in the Fragile Mental Retardation Protein, FMRP, is responsible for the Fragile X syndrome. FMRP is an RNA binding protein that shuttles between the nucleus and the cytoplasm. FMRP binds to several mRNAs including its own mRNA at a sequence region containing a G quartet structure. Some of the candidate downstream genes recently identified encode for synaptic proteins. Neuronal studies indicate that FMRP is located at synapses and loss of FMRP affects synaptic plasticity. At the synapses, FMRP acts as a translational repressor and in particular regulates translation of specific dendritic mRNAs, some of which encode cytoskeletal proteins and signal transduction molecules. This action occurs via a ribonucleoprotein complex that includes a small dendritic non-coding neuronal RNA that determines the specificity of FMRP function via a novel mechanism of translational repression. Since local protein synthesis is required for synaptic development and function, this role of FMRP likely underlies some of the behavioural and developmental symptoms of FRAXA patients. Finally we review recent work on the Drosophila system that connects cytoskeleton remodelling and FMRP function.

Animals↗

Pre- and postnatal growth retardation--severe mental retardation--acral limb deficiencies with poorly keratinized nails. Another example of a distinct syndrome of inherited intrauterine dwarfism?

In this report, we further delineate an autosomal recessive syndrome with prenatal growth retardation, severe postnatal growth failure, profound mental and motor retardation, characteristic face and acral limb deficiencies with poorly keratinized nails and hypoplastic distal phalanges.

Child Development↗

[Neuropsychologic characteristics of children with retarded mental development].

The neuropsychological study of 50 children with the diagnosis of mental retardation permitted to devide them into 2 groups according to the character and severity of disturbances. In the first group disturbances of some cortical functions are of a dynamical character, in the second group there is a stable insufficiency. The prevalence of the defect is different: in the first group phenomena of a dysfunction are observed in the zone of verbal tasks and in the second--in the verbal and nonverbal areas. The consideration of these results from the point of view of the conjugate brain activity allows one to state in the first group a dysfunction of the left (speech) hemisphere along with the normal development of the right hemisphere. In the second group there is a dysfunction of both hemispheres which points to a more expressed severity of disturbances. A special neuropsychological study of the functions of the frontal lobes protecting the highest forms of behaviour regulation demonstrates their different insufficiency in children with mental retardation. The first group shows impulsiveness and instability of an arbitrary control, the second group--enertness, perseveration in programming movements and actions. However, the anomaly of mental development in the second group of children may be related to mental retardation, since the marked defects are compensated by the possibility of holding intentions and capability of purposeful activity.

Child↗

New definition of mental retardation for the American Association of Mental Retardation.

PURPOSE: To describe the new definition of mental retardation developed by the American Association of Mental Retardation (AAMR) published in 1992. The previous definition was based on a deficiency model that identified "subaverage intelligence" using an intelligence quotient (IQ) score equal to or less than 70. The new definition places greater emphasis on adaptive skills and environmental support needs. SCOPE: Defining mental retardation according to AAMR criteria reflects a significant paradigm shift from an absolute trait to a functional conception. The new definition is dynamic, attends to context, is inherently holistic--and, therefore--closely aligned with nursing theory. Diagnosis is a three-step process by which functional strengths and weaknesses are identified along 4 dimensions and 10 adaptive-skill areas. Identification of needed supports is incorporated within the three-step process. CONCLUSIONS: Nurses can enhance holistic care by working to have AAMR's new definition adopted by government legislators and administrators of state and county agencies that provide mental-retardation services. Nurses should become active participants as interdisciplinary diagnostic team members as well as case managers. Nurse researchers and educators can contribute toward further developing AAMR's definition by standardizing assessment instruments, working to make diagnostic procedures more user-friendly, and researching the construct validity of adaptive-skill areas. Finally, nurses should help legislators and policy makers understand the sociocultural ramifications of AAMR's new definition.

Activities of Daily Living↗

A comparison of stress and coping by fathers of adolescents with mental retardation and fathers of adolescents without mental retardation.

This investigation was an attempt to provide comparative information regarding stress and coping in fathers of adolescents with mental retardation and fathers of adolescents without mental retardation. Subjects for the study were 40 fathers of adolescents with mental retardation and 31 fathers of adolescents without mental retardation.

Adaptation, Psychological↗

Practitioner versus medication-expert opinion on psychiatric pharmacotherapy of mentally retarded patients with mental disorders.

The agreement of practicing psychiatrists with medication experts regarding how psychotropic drugs should be used to treat behavioral and psychiatric problems in patients with mental retardation was studied. The medication survey used in developing guidelines on the treatment of behavioral and psychiatric problems in mental retardation was sent to 85 psychiatrists who had been identified as caring for the mentally retarded in the Texas public mental health system. The comparison of these practitioners with the medication experts included first-line and second-line treatment choices. Survey analysis was based on using 95% confidence intervals (CIs) to determine the type of rating. If the 95% CIs for the practitioners' responses overlapped the 95% CIs for experts, the two groups were judged to be in agreement. Thirty-seven practitioners (43.5%) completed and returned the survey. Few differences between the practitioners and the medication experts were found with respect to treatments for specific mental illness diagnoses. However, the practitioners rated venlafaxine and mirtazapine higher than the medication experts. Lithium augmentation of therapy with selective serotonin-reuptake inhibitors for nonpsychotic depression was rated first-line by the practitioners and second-line by the medication experts. Practicing psychiatrists and medication experts generally agreed about the use of psychotropic drugs for mental illness in patients with mental retardation.

Clinical Competence↗

Effects of the labels "mentally retarded" and "retard" on the social acceptability of mentally retarded children.

Effects of the labels "mentally retarded" and "retard" on fifth- and sixth-grade children's attitudes toward peers were studied. Results indicated that children's attitudes (feelings and behavioral intentions) were more positive toward the target child labeled "mentally retarded" than labeled "retard." The data also showed that children's reactions to the two labels were, in part, a function of the physical appearance and academic competence of the peer being rated. Children had the most negative attitudes toward a child labeled "retard" who appeared to be "normal." In contrast, children reacted favorably to the target child labeled "mentally retarded," even when he or she was academically incompetent. Finally, boys were more negative than were girls toward the target child, especially when the child was labeled "retard." Implications for the movement to abandon the use of labels were discussed.

Attitude↗

Death penalty support for special offender populations of legally convicted murderers: juveniles, the mentally retarded, and the mentally incompetent.

The U.S. Supreme Court recently re-examined the constitutionality of the death penalty in the context of two of three special offender populations of murderers (juveniles, mentally retarded, and mentally incompetent). The Court reaffirmed the imposition of the death penalty for juveniles 16 and 17, while reversing itself on the mentally retarded. In reaching its decision, the Court relied on society's "evolving standards of decency." Using Likert-type items, this study is the first to have prospective jurors assess support for the death penalty for these specific offender groups. The public's support for the execution of each of the groups is then compared with existing case law. Descriptive statistics and regression analyses indicate that, as expected, the levels of support for the applicability of capital punishment to the various special offender populations are much lower than that for the general adult offender. Moreover, these findings are congruent with the holdings of the Court with one notable exception: a slight majority of respondents supported executing the mentally incompetent. Reasons for the public's apparent departure from the Supreme Court holding prohibiting the execution of mentally incompetent convicted murderers are discussed. The Court's continued role in protecting marginalized populations from "cruel and unusual punishment" is explored in the context of strong public sentiment demanding justice and finality despite changes in offenders' mental capacity.

Adolescent↗

Preventable fraction of mental retardation: analysis based on individuals with severe mental retardation.

Reduction in the prevalence of mental retardation has been identified as a national goal since 1971. President Nixon proposed the year 2000 as a benchmark, by which time the prevalence of severe mental retardation should be reduced by as much as 50%. An analysis to determine the fraction of severe mental retardation that could be prevented with strategies currently available indicates that the goal will not be met. Knowledge of the causes of severe mental retardation is fundamental to developing prevention strategies. Increased diagnostic capability-clinical and laboratory-must be dramatically increased if a 50% reduction in the prevalence of severe mental retardation is to be achieved in the foreseeable future.

Adolescent↗

Protective effects of the label "mentally retarded" on children's attitudes toward mentally retarded peers.

The protective effect of the label "mentally retarded" was tested to determine whether the label could help ameliorate the negative attitudes children have toward mentally retarded peers who exhibit poor social behavior. Nonretarded fourth through sixth graders (n = 126) viewed a videotape of a mildly retarded target child reading. The target was either labeled or not labeled "mentally retarded" and was depicted as either socially withdrawn or aggressive. Assessment of children's attitudes indicated that the label had a protective effect when the retarded child was withdrawn but only a very weak effect when the child was aggressive. This suggests a limit to the protective effect of the label. Results reaffirmed the necessity of examining labels in combination with child characteristics in order to understand more fully the effects of labels.

Attitude↗

Summary of the Practice Parameters for the Assessment and Treatment of Children, Adolescents, and Adults with Mental Retardation and Comorbid Mental Disorders. American Academy of Child and Adolescent Psychiatry.

This summary provides an overview of the assessment and treatment recommendations contained in the Practice Parameters for the Assessment and Treatment of Children, Adolescents, and Adults With Mental Retardation and Comorbid Mental Disorders. The parameters were written to aid clinicians in the assessment and treatment of children, adolescents, and adults with symptoms of mental retardation (MR) and comorbid mental disorders. MR is a heterogeneous condition defined by significantly subaverage intellectual and adaptive functioning and onset before age 18 years. With an approach underscored by principles of normalization and the availability of appropriate education and habilitation, persons with MR generally live, are educated, and work in the community. Mental disorders occur more commonly in persons with MR than in the general population. However, the disorders themselves are essentially the same. Clinical presentations can be modified by poor language skills and by life circumstances, so a diagnosis might hinge more heavily on observable behavioral symptoms. The diagnostic assessment considers and synthesizes the biological, psychological, and psychosocial context of mental disorders. Comprehensive treatment integrating various approaches, including family counseling, pharmacological, educational, habilitative, and milieu interventions is the rule.

Adolescent↗

Service delivery patterns for adults with mild mental retardation at community mental health centers.

Results of a national survey on mental health services for adults with mild mental retardation sent to directors of psychological services at community mental health centers was discussed. In general, adults with mild mental retardation were less likely to receive the full array of available services. Individuals with mental retardation were not frequent consumers of community mental health services and received differential treatment at these Centers. Implications of these findings were discussed.

Community Mental Health Centers↗

Psychopathology and mental retardation: a statistical study of 100 mentally retarded children treated at a psychiatric clinic: II. hyperactivity.

The authors studied 100 mentally retarded children referred to a psychiatric clinic and found that 39 were hyperactive. However, there was no significant relationship between hyperactivity and mental retardation (with or without psychosis) or brain damage. Comparison with a group of nonretarded children revealed no significant difference regarding hyperactivity, thus suggesting that the disorder is not an inevitable concomitant of mental retardation.

Brain Damage, Chronic↗

Psychopathology and mental retardation: A study of 100 mentally retarded children: I. Psychopathology.

The authors studied 100 mentally retarded children referred to a psychiatric clinic in regard to the severity of their retardation, their ages at the time of referral, their social class, their presenting symptoms and diagnoses, and the effects of organicity on their clinical pictures. They found that 38 of these children were psychotically disturbed, 13 had no evidence of psychiatric disorder, and 49 showed symptoms of characterologic, neurotic, behavioral, or situational disorders. Although the incidence of emotional disorder was high among these children, their symptoms did not differ in kind from those found in a group of nonretarded children referred to the clinic.

Adolescent↗