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PubMed1986

Stimulus fading and transfer in the treatment of self-restraint and self-injurious behavior.

We conducted several manipulations of mechanical restraint properties during the course of treatment for two profoundly retarded adolescents who exhibited both self-restraint and self-injurious behavior. In study 1, a combination of prompting, differential reinforcement, and stimulus fading reduced one subject's self-restraint, which consisted of holding rigid tubes on his arms. Subsequently, stimulus control of both self-restraint and self-injurious behavior was transferred to tennis wrist bands. In study 2, a second subject's self-restraint--placing his hands in his pants--was immediately eliminated by the use of air splints. Additionally, differential reinforcement and air-pressure fading resulted in the complete mobility of his arms and a substantial increase in appropriate behaviors. Results of this investigation suggest that stimulus fading and transfer may be valuable components in the elimination of self-restraint.

Adolescent↗
PubMed2005

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.

Array-based comparative genomic hybridization has proven to be successful in the identification of genetic defects in disorders involving mental retardation. Here, we studied a patient with learning disabilities, retinal dystrophy, and short stature. The family history was suggestive of an X-linked contiguous gene syndrome. Hybridization of full-coverage X-chromosomal bacterial artificial chromosome arrays revealed a deletion of ~1 Mb in Xp11.3, which harbors RP2, SLC9A7, CHST7, and two hypothetical zinc-finger genes, ZNF673 and ZNF674. These genes were analyzed in 28 families with nonsyndromic X-linked mental retardation (XLMR) that show linkage to Xp11.3; the analysis revealed a nonsense mutation, p.E118X, in the coding sequence of ZNF674 in one family. This mutation is predicted to result in a truncated protein containing the Kruppel-associated box domains but lacking the zinc-finger domains, which are crucial for DNA binding. We characterized the complete ZNF674 gene structure and subsequently tested an additional 306 patients with XLMR for mutations by direct sequencing. Two amino acid substitutions, p.T343M and p.P412L, were identified that were not found in unaffected individuals. The proline at position 412 is conserved between species and is predicted by molecular modeling to reduce the DNA-binding properties of ZNF674. The p.T343M transition is probably a polymorphism, because the homologous ZNF674 gene in chimpanzee has a methionine at that position. ZNF674 belongs to a cluster of seven highly related zinc-finger genes in Xp11, two of which (ZNF41 and ZNF81) were implicated previously in XLMR. Identification of ZNF674 as the third XLMR gene in this cluster may indicate a common role for these zinc-finger genes that is crucial to human cognitive functioning.

Amino Acid Sequence↗
PubMed1986

Analyzing the stimulus properties of objects used in stereotyped behavior.

Ten severely retarded children who engaged in object stereotypies were observed during 10, 1-hour sessions in various contexts of their living and school environments. The percentage of object stereotypies performed and the nature of the objects manipulated were described. For the children as a group, context did not affect the level of object stereotypies, but other stereotypies were performed most often during music sessions. In Study 2 the objects manipulated in a stereotyped manner were presented to six people who were asked to describe the physical dimensions of the object when it was moved. Judges found that most children appeared to respond to flexibility, whereas some children appeared to respond to other feedback. Study 3 was designed to validate the dimensions selected by the judges. Each dimension agreed on by five of the judges in Study 2 was used to construct sets of five objects that varied with respect to that dimension. The children were presented with the set of objects and differential manipulation along the dimension was assessed. The judges' selections were partially validated.

Adolescent↗
PubMed1999

An evaluation of the properties of attention as reinforcement for destructive and appropriate behavior.

The analogue functional analysis described by Iwata, Dorsey, Slifer, Bauman, and Richman (1982/1994) identifies broad classes of variables (e.g., positive reinforcement) that maintain destructive behavior (Fisher, Ninness, Piazza, & Owen-DeSchryver, 1996). However, it is likely that some types of stimuli may be more effective reinforcers than others. In the current investigation, we identified 2 participants whose destructive behavior was maintained by attention. We used concurrent schedules of reinforcement to evaluate how different types of attention affected both destructive and appropriate behavior. We showed that for 1 participant praise was not an effective reinforcer when verbal reprimands were available; however, praise was an effective reinforcer when verbal reprimands were unavailable. For the 2nd participant, we identified a type of attention that effectively competed with verbal reprimands as reinforcement. We then used the information obtained from the assessments to develop effective treatments to reduce destructive behavior and increase an alternative communicative response.

Aggression↗
PubMedDate not supplied

The Multifaceted Lifestyle Satisfaction Scale (MLSS): psychometric properties of an interview schedule for assessing personal satisfaction of adults with limited intelligence.

The purpose of this research was to assess the psychometric properties of the Multifaceted Lifestyle Satisfaction Scale (MLSS), an interview structured primarily for individuals with mental retardation to assess their professed satisfaction with their living arrangements and communities, their personal relationships, their recreation and leisure, their employment, and their degree of self-direction. Reliabilities, assessed as internal consistency coefficients, test-retest correlations, and interrater agreements were above .60 on cross-validation samples. Validity was supported through correlations with caretaker predictions of respondents' satisfactions, but not by the Quality of Life Questionnaire, an objective instrument to index quality of life in four dimensions: lifestyle satisfaction, production, independence, and integration. Regression analyses indicated moderate theory-based correlations between MLSS subscales and other variables. In sum, the MLSS appears to be a reliable and valid scale to measure personal satisfaction through the responses of consumers in areas of living arrangement, friendships, recreation, employment, and self-direction.

Adolescent↗
PubMed1985

Effects of phenothiazine treatment on the physical properties of platelet membranes from psychiatric patients.

Exposure of normal platelet membranes in vitro to clinically relevant concentrations of phenothiazines has been reported to result in an increase in the structural order of the hydrocarbon region of these membranes (Zubenko and Cohen 1984b,c). In this study, the order parameters (reciprocal of fluidity) of platelet membranes prepared from psychiatric patients receiving phenothiazine antipsychotic drugs were compared to those of an otherwise matched population of psychiatric patients who were not receiving medications that significantly affect this cell membrane property in vitro (Zubenko and Cohen 1984b,c). Membrane order was determined ex vivo by steady-state fluorescence polarization measurements employing 1,6-diphenyl 1,3,5-hexatriene, a fluorescent probe that localizes preferentially in the hydrocarbon region of cell membranes. Phenothiazine administration was associated with a significant increase in platelet membrane order and most likely results from a direct action of these agents on cell membranes. The platelet membrane order parameters of phenothiazine-free patients did not differ significantly from those of a matched group of unmedicated, normal controls. Platelet membrane order was not correlated with daily phenothiazine dose or serum cholesterol concentration. Patient gender did not significantly affect platelet membrane order in any of the groups studied. The potential physiological and clinical significance of phenothiazine-induced increases in cell membrane order is discussed.

Adult↗
PubMed1992

Properties of perception of laterally moving objects in persons with profound retardation.

Twenty-two persons with profound retardation were assessed for their perception of moving objects at a velocity of 5 degrees s-1. Abnormalities were not found in the ocular structures and optic discs of subjects upon ophthalmological examination. Stimuli consisted of six habituation trials and two test trials. Duration of eye movement in pursuit of stimulus was estimated by calculating the linearity and gradients of electro-oculograms. Subjects were divided into three groups based on the change of estimated time of pursuit eye movement. Those showing habituation as well as dishabituation (group 1) had higher developmental communicative ages than subjects with only habituation (group 2) and subjects who did not exhibit habituation (group 3). The results indicated a relationship between the perception of moving objects and the development of communication level in persons with profound retardation. The present study investigated abnormalities in the computer tomographic scanning of the subjects' heads and found cerebral disturbance of the visual cognition of moving objects in persons with profound retardation.

Adolescent↗
PubMed2005

Sequence of abnormal dendritic spine development in primary somatosensory cortex of a mouse model of the fragile X mental retardation syndrome.

Anatomical analyses of occipital and temporal cortex of patients with fragile X mental retardation syndrome (FXS) and in a mouse model of the syndrome (FraX mice) compared to controls have suggested that the fragile X mental retardation protein (FMRP) is important for normal spine structural maturation and pruning. However, a recent analysis of spine properties in somatosensory cortex of young FraX mice has suggested that this region may not exhibit spine abnormalities. While spine abnormalities were present 1 week after birth in somatosensory cortex, by 4 weeks almost all spine abnormalities had disappeared, suggesting that adult spine abnormalities observed in other cortical regions may not persist post-developmentally in somatosensory cortex. To resolve this discrepancy we examined spine properties in somatosensory cortex of young (day 25) and adult (day 73-76) FraX compared to wild-type (WT) mice. Spine properties in young FraX and WT mice did not consistently differ from each other, consistent with the recent analysis of developing somatosensory cortex. However, adult FraX mice exhibited increased spine density, longer spines, more spines with an immature-appearing structure, fewer shorter spines, and fewer spines with a mature structure, a pattern consistent with prior analyses from other adult cortical brain regions in humans and mice. These findings (1) support the previous report of the absence of major spine abnormalities in the fourth postnatal week, (2) demonstrate normal spine development in WT mice, (3) demonstrate abnormal spine development after the fourth postnatal week in FraX mice, and (4) demonstrate spine abnormalities in somatosensory cortex of adult FraX compared to adult WT mice. In doing so, these findings resolve a potential conflict in the literature and more thoroughly describe the role of FMRP in spine development.

Animals↗
PubMed1996

The chicken FMR1 gene is highly conserved with a CCT 5'-untranslated repeat and encodes an RNA-binding protein.

The transcriptional silencing of the human gene, fragile X mental retardation 1 (FMR1), is due to abnormal methylation in response to an expanded 5'-untranslated CGG trinucleotide repeat and accounts for most cases of fragile X syndrome, a frequent inherited form of mental retardation. Although the encoded fragile X mental retardation protein (FMRP) is known to have properties of a RNA-binding protein, the precise function of FMRP remains to be elucidated. We report the cloning of the chicken homolog of FMR1 and show strong evolutionary conservation, with nucleotide and amino acid identities of 85 and 92%, respectively, between chicken and human. In place of the mammalian CGG trinucleotide repeat, a 99-nt tripartite repetitive element containing a CCT trinucleotide repeat flanked on both sides by dinucleotide repeats was identified. Blocks of highly conserved 3'-untranslated sequence were also found. Within the coding region, two copies each of the highly conserved K homology motif and the Arg-Gly-Gly (RGG) box motif, both ribonucleotide particle family domains implicated in RNA binding, were identified. Chicken FMRP was found to bind RNA in vitro, and this activity correlated with the presence of the carboxy-terminal portion of the protein that includes the RGG motifs.

Animals↗
PubMed2005

Making the most of teams in the mentorship of students.

Community nurses are rightly expected to act as mentors. This role offers students valuable opportunities to gain insight into community care and contributes to the development of future services and the professional growth of individual mentors. There can be tension, however between the demand of nurses' clinical roles and the need to support students. This article identifies ways in which teams can get the most out of mentoring, focusing on the importance of strong clinical leadership and the need for nurses to "own" the mentorship role and to work with other stakeholders. Finally, examples of initiatives from one inner-London trust are offered to demonstrate robust ways of enabling practice-based education.

Community Health Nursing↗
PubMed1985

Effects of nutritional and mechanical properties of food on ruminative behavior.

Previous studies have identified a reliable relation between the quantity of food ingested and ruminating in profoundly retarded individuals and have established some parametric characteristics of this relation. The present study investigated three different properties of food that may influence this relation. Experiment 1 examined the role of stomach distention produced by including in the subject's diet wheat bran in amounts equivalent to and exceeding the calculated amount of crude fiber in the starch-satiation diet reported by Rast, Johnston, Drum, and Conrin (1981) and Rast, Johnston, and Drum (1984). There was a decrease in ruminating, although this decrease was smaller and more gradual than in the starch-satiation condition. Experiment 2 showed that increasing calories without increasing food volume resulted in a gradual and moderate decrease in ruminating. Experiment 3 replicated and extended the first two experiments by varying both caloric intake and stomach distention as well as oropharyngeal and esophageal stimulation in a different sequence of conditions. All variables exerted some control over responding. However, the large and immediate effects of the starch-satiation procedure occurred only when subjects were permitted to consume unlimited quantities.

Adult↗
PubMed2006

[The criminological characteristics of mental retardation].

OBJECTIVE: To explore the criminological characteristics of mental retardation (MR) in forensic psychiatry. METHODS: The record scale of forensic psychiatric assessment designed by ourselves was used to analyse the criminological characteristics of 83 offenders with MR, and to compare the criminological characteristics of mild MR with that of moderate and severe MR. RESULTS: The mild MR accounted for 62.7%, moderate and severe MR was 22.9%. The percentage of sex offenders in MR was 37.3%, manslaughter 34.7%, property offences 28.0%, respectively. Additionally, 96.1% cases with MR have definite criminal motives, and the criminal history was established in 34.7% cases. Significant differences of criminal premeditation (X2chi-squared l11,P=0.001), criminal aim(x2chi-squared 7.531, P=0.006), criminal motive(X 2chi-squared . 920, P= 0.019) and criminal types(s 2chi-squared .855, P=0.02) were found between the mild MR and the moderate, severe MR. CONCLUSIONS: The criminal offenders were mostly found in mild MR. The sex offenders and manslaughter were in outright majority, and most of them had definite criminal motives. The proportion of offenders in mild MR who had criminal premeditation and criminal aim was higher significantly than which in the moderate, severe MR. The proportion of offenders in moderate, severe MR whose criminal motive was for sex was higher than that in mild MR.

Adolescent↗
PubMed1988

Double-blind, placebo-controlled quantitative EEG and psychometric studies in elderlies on vigilance-promoting effects of an almitrine/raubasine combination (Duxil).

In a double-blind, placebo-controlled study the encephalotropic and psychotropic properties of an acutely and 3-weeks subacutely administered novel drug Duxil (consisting of 30 mg of the antihypoxic almitrine which increases the oxygenation of the arterial blood by specific action on the pulmonary exchange system and of 10 mg raubasine, which potentiates this effect via increase in peripheral circulation), were investigated in 12 elderly subjects in their 70s. Each subject had a treatment of 3 weeks with Duxil and placebo (1 tablet b.i.d.) with an interval of 1 week in between (the order of drug sequence was randomized). EEG recordings, psychometric and psychophysiological tests as well as evaluation of pulse, blood pressure and side effects were carried out at 0, 2, 4, 6 and 8 h after the administration of one single dose on day 1 (acute effect), at the 0 h on day 21 (subacute effect) as well as at the 2, 4, 6, and 8 h after one additional superimposed dosage on day 21 (superimposed effect). Computer-assisted spectral analysis of the EEG demonstrated after single doses of two tablets of Duxil only subtle changes in the resting EEG, while after subacute administration and even more so after one superimposed dosage highly significant changes were observed, which were characterized by an increase of total power, alpha and alpha-adjacent beta activity, decrease in fast beta activity, and by an augmentation of absolute and relative power of the dominant frequency. These findings are indicative of an improvement in vigilance. The latter was seen also at the behavioral level, as psychometric tests showed specifically in noopsychic variables a significant improvement in intellectual, mnestic and psychomotor performance after the novel antihypoxic compound, as compared with placebo. There were practically no changes in thymopsychic variables. Evaluation of psychophysiological variables and side effects showed extremely good tolerability of the drug.

Aged↗
PubMed1990

Congenital malformations and maternal consumption of benzodiazepines: a case-control study.

This study assessed potential teratogenic properties of benzodiazepine (BZD) intake during early pregnancy. Four neonatal diagnoses of congenital malformations (embryopathy and fetopathy, unspecified; unspecified congenital malformations of the nervous system; cleft palate and cleft lip; congenital malformations of the urinary tract) were selected. The authors' previous clinical experience had shown these diagnoses to be characteristic of infants born to mothers with excessive intake of BZD in early pregnancy. The selected diagnoses were present in 25 of 10,646 liveborn infants (2.3 per 1000) delivered by mothers living in the city of Gothenburg in 1985 and 1986. In 18 of these cases, it was possible to analyse maternal plasma, and eight samples (44 per cent) were found to be BZD-positive. Of 60 controls, two maternal blood samples (3 per cent) were positive for BZD. The difference is highly significant and suggests an association between these congenital malformations and BZD consumed during early gestation.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

An unusual malformation of the forebrain and concomitant destructive encephalopathy with calcifications.

A 9-year old boy with profound mental retardation and severe neurologic deficit presented an unusual malformation of the forebrain distinguished by the following features: 1) microtelencephalon, alobulation, afissuration, and abnormal convolutional pattern; 2) persistence of hippocampal formation at its embryonic site in the dorsomedial wall of the telencephalon; 3) hypoplasia and abnormal configuration of ventricles; 4) agenesis of cerebral commissures; and 5) abnormal location and orientation of gray structures. Important concomitant findings characterized by severe destructive lesions, massive calcification, granular ependymitis, and low grade inflammation were suggestive of late sequelae of an infectious process, possibly congenital. Transplacental transmission of an unidentified pathogen with teratogenic properties was hypothesized as the probable cause. The teratogenic insult started in an early embryonic period and affected primarily the development of the neopallium in the telencephalic wall. The arrested development of the neopallium disrupted the chain of interdependent developmental events; consequently characteristic morphological modifications normally induced by the continuous growth and differentiation of the neopallium failed to occur or took an abnormal course. The name architelencephalon (Greek: arche, beginning; telencephalon, cerebral hemispheres) proposed for this particular malformation of the forebrain indicates its resemblance both to the human brain at early stages of development and also to mammalian brains on a lower level of phylogeny. Associated anomalies included an unilateral microphthalmia with cataract, severe stenosis of the aqueduct of Sylvius and macrocephaly. The microphthalmia was either a developmental anomaly or was infectious in origin. The stenosis of the aqueduct was attributed to granular ependymitis. Tearing of the thin dorsal diencephalic plate and arachnoid membrane and escape of the cerebrospinal fluid into the subdural space probably accounted for the macrocephaly.

Brain↗
PubMed1996

Clinical and economic aspects of risperidone treatment in adults with mental retardation and behavioral disturbance.

Risperidone, in conjunction with behavioral interventions, was used to reduce aggression and assault, self-injury, and property destruction in 33 institutionalized adults with mental retardation. Target behavior frequencies, global assessments by staff, wages earned by patients, and the institution's costs for assault-related injury to staff and lost work time were evaluated before and after initiation of risperidone treatment. Risperidone (1-8 mg/day) was associated with a 50 percent or greater reduction in at least one target behavior frequency in 61 percent of patients. After 6 months of treatment, 85 percent of patients were rated "improved" and 15 percent were rated "unchanged." Treated patients' wage earnings increased by 37 percent. The number of staff work days lost because of assault by treated patients decreased from 444 during the 6 months before initiation of risperidone to 29 during the 6 months after initiation. Sedation, pseudoparkinsonism, possible akathisia, and weight gain were noted in 9-12 percent of patients. No patients were withdrawn from risperidone because of intolerable side effects or lack of efficacy. The results of this evaluation suggest that risperidone is effective and well tolerated in this population.

Adult↗
PubMed1997

On the relation of mands and the function of destructive behavior.

When standard analogue functional analysis procedures produce inconclusive results in children with conversational speech, the child's mands may help to identify the function of destructive behavior. In the current investigation, functional analyses conducted with 2 children who exhibited self-injury, aggression, and property destruction were undifferentiated across conditions. Based on informal observations and school and parental report, an analysis was conducted using mands to help determine the function of the destructive behavior. Using a multielement design, the therapist's compliance with the child's mands occurred either on a fixed-ratio (FR) 1 schedule or contingent on destructive behavior. Destructive behavior occurred at high and consistent levels when reinforcement of mands was contingent on destructive behavior and at near-zero levels when reinforcement of mands occurred on the FR 1 schedule. Based on these results, a second analysis was conducted in which compliance to mands occurred only when the child appropriately requested it (i.e., functional communication training plus extinction) and, for 1 child, compliance with mands was terminated contingent upon destructive behavior (i.e., functional communication training plus response cost). For both children, the rates of destructive behavior decreased markedly. The results suggest that assessing the child's mands may be useful in decreasing destructive behavior when a functional analysis is inconclusive.

Adolescent↗
PubMed2002

Casein kinase II phosphorylates the fragile X mental retardation protein and modulates its biological properties.

Fragile X syndrome is caused by loss of FMR1 protein expression. FMR1 binds RNA and associates with polysomes in the cytoplasm; thus, it has been proposed to function as a regulator of gene expression at the posttranscriptional level. Posttranslational modification of FMR1 had previously been suggested to regulate its activity, but no experimental support for this model has been reported to date. Here we report that FMR1 in Drosophila melanogaster (dFMR1) is phosphorylated in vivo and that the homomer formation and the RNA-binding activities of dFMR1 are modulated by phosphorylation in vitro. Identification of a protein phosphorylating dFMR1 showed it to be Drosophila casein kinase II (dCKII). dCKII directly interacts with and phosphorylates dFMR1 in vitro. The phosphorylation site in dFMR1 was identified as Ser406, which is highly conserved among FMR1 family members from several species. Using mass spectrometry, we established that Ser406 of dFMR1 is indeed phosphorylated in vivo. Furthermore, human FMR1 (hFMR1) is also phosphorylated in vivo, and alteration of the conserved Ser500 in hFMR1 abolishes phosphorylation by CKII in vitro. These studies support the model that the biological functions of FMR1, such as regulation of gene expression, are likely regulated by its phosphorylation.

Amino Acid Sequence↗