Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Eight individuals with mental retardation and imposed mechanical restraints due to severe, life-threatening self-injurious behavior received electrical aversive treatment. Eight other individuals, who had been matched with the treatment group in terms of the degree of imposed mechanical restraint due to the above problem behavior, had not received electrical aversion treatment. A comparison of imposed mechanical restraint scores, as a measure of severity of self-injurious behavior, between both groups over a period of three years, revealed that electrical aversion treatment significantly reduces the degree of imposed mechanical restraint.
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PMID:A quasi-experimental study on the effect of electrical aversion treatment on imposed mechanical restraint for severe self-injurious behavior. 1098 80

We evaluated the extent to which discriminative stimuli (S(D)s) facilitate differential responding during multielement functional analyses. Eight individuals, all diagnosed with mental retardation and referred for assessment and treatment of self-injurious behavior (SIB) or aggression, participated. Functional analyses consisted of four or five assessment conditions alternated in multielement designs. Each condition was initially correlated with a specific therapist and a specific room color (S(D)s), and sessions continued until higher rates of target behaviors were consistently observed under a specific test condition. In a subsequent analysis, the programmed S(D)s were removed (i.e., all conditions were now conducted by the same therapist in the same room), and sessions continued until differential responding was observed or until twice as many sessions were conducted with the S(D)s absent (as opposed to present), whichever came first. Results indicated that the inclusion of programmed S(D)s facilitated discrimination among functional analysis conditions for half of the participants. These results suggest that the inclusion of salient cues may increase either the efficiency of functional analyses or the likelihood of obtaining clear assessment outcomes.
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PMID:Differential responding in the presence and absence of discriminative stimuli during multielement functional analyses. 1105 70

The prevalence of self-injurious behavior (SIB) in an institution for people with mental retardation was investigated. The relationship between SIB and age, sex, level of retardation, length of institutionalization, adaptive behavior, and probable causes of mental retardation was examined. A factor analysis on the topographies of SIB indicated the existence of two forms of SIB, stereotyped and social. The results are discussed in terms of probable causes of SIB.
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PMID:The structure and correlates of self-injurious behavior in an institutional setting. 1115 32

Information was collected on 95 people with mental retardation who had been identified seven years previously as showing severe self-injurious behavior. At follow up 71% of participants were still showing self-injurious behavior of a severity which presented a management problem for care staff. The occurrence of specific topographies of self-injury was extremely stable among the group showing persistent self-injury. Finally, self-injury status at follow-up was predicted with 76% accuracy by a logistic regression model containing three variables: site of injury (higher persistence being shown by people exhibiting head directed self-injury); reported (greater) stability of self-injury when first identified; and (younger) age.
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PMID:Predicting the persistence of severe self-injurious behavior. 1126 31

The phenomenology, pathophysiology, and psychopharmacology of repetitive self-injurious behavior (rSIB) are reviewed. Although numerous neurotransmitter systems are thought to be involved in the initiation and maintenance of rSIB, the majority of clinical studies attend to the role of serotonin or endogenous opioids. This focus has emerged from a conceptualization of rSIB as a problem of impulse control (primarily mediated by serotonin) and/or as a maladaptive pain-related behavior (ultimately mediated by opioids). A developmental perspective of rSIB is emphasized, highlighting the biased prevalence of rSIB among patients with mental retardation and severe personality disorders and the significance of critical developmental events leading to pathology in "pedagogical" neural circuits. A novel typology is offered in an effort to better match interventions with rSIB subtypes. Achievement of this ultimate goal however, must await further research.
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PMID:Repetitive self-injurious behavior: a neuropsychiatric perspective and review of pharmacologic treatments. 1129 Oct 18

The enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) catalyzes the reutilization of hypoxanthine and guanine to the purine nucleotides IMP and GMP, respectively. HPRT deficiency is an X-linked disorder characterized by uric acid overproduction and variable neurologic impairment. The complete deficiency of HPRT is diagnostic of Lesch-Nyhan syndrome manifested by choreoathetosis, spasticity, mental retardation, and self-injurious behavior. In some HPRT-deficient patients the enzyme defect appeared to be "partial" and the neurologic symptoms mild to severe (Kelley-Seegmiller syndrome). This has prompted the classification of HPRT deficiency in 2 distinct groups: Lesch-Nyhan syndrome and Kelley-Seegmiller syndrome, which has created much confusion. A spectrum of clinical consequences of HPRT deficiency has been recognized in small series of patients, but the complete spectrum of the neurologic disorder has not been described in a single series of patients examined by the same observers. We analyzed our experience with 22 patients belonging to 18 different families with HPRT deficiency diagnosed at "La Paz" University Hospital in Madrid over the past 16 years. The clinical spectrum of these HPRT-deficient Spanish patients was similar to the different phenotypes occasionally reported in the literature, in some cases diagnosed as Lesch-Nyhan "variants." The clinical, biochemical, enzymatic, and molecular genetic studies on these 22 patients allowed us to delineate a new classification of HPRT deficiency. Based on the neurologic symptoms, dependency for personal care, HPRT activity in hemolysate and in intact erythrocytes, and predicted protein size, patients were classified into 4 groups: Group 1 (2 patients), normal development with no neurologic symptoms, HPRT activity was detectable in hemolysates and in intact erythrocytes, and the mutation did not affect the predicted protein size. Group 2 (3 patients) mild neurologic symptoms that did not prevent independent lives, HPRT activity was detectable in intact erythrocytes, and the protein size was normal. Group 3 (2 patients), severe neurologic impairment that precluded an independent life, no residual HPRT activity, and normal protein size. Group 4 (15 patients), clinical characteristics of Lesch-Nyhan syndrome (some may not show self-injurious behavior), no residual HPRT activity, and in most (7 of 8 patients in whom the mutation could be detected) the mutation affected the predicted protein size. This classification of HPRT deficiency into 4 groups may be more useful in terms of accuracy, reproducibility, assessment for treatment trials and prognosis. The study of this Spanish series allows us to conclude that HPRT deficiency may be manifested by a wide spectrum of neurologic symptoms; the overall severity of the disease is associated with mutations permitting some degree of residual enzyme activity; and mutation analysis provides a valuable tool for prognosis, carrier identification, and prenatal diagnosis.
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PMID:The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families. 1130 86

Atypical antipsychotic medications for self-injurious behavior (SIB), aggression, and destruction among people with mental retardation and development disabilities are becoming increasingly accepted. Most studies are on risperidone and fewer have been conducted on clozapine. The present single-blind study reports marked reductions in SIB and aggression of two persons with profound mental retardation who were nonresponsive to all other behavioral and psychopharmacological interventions, including risperidone. The most effective dose was 200 mg/day. Side effects were mild and the drug was tolerated well.
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PMID:Brief report: effects of clozapine on self-injurious behavior of two risperidone nonresponders with mental retardation. 1143 49

Accumulated evidence shows that biology and the environment can mediate self-injurious behavior (SIB) in persons with mental retardation. Whether pharmacological treatment alters the environmental mediation of self-injury is unclear. Opioid antagonist effects on sequential dependencies for self-injury were studied in the context of experimental single-subject double-blind placebo-controlled designs. Direct observational data were collected for 4 adult subjects in real time on daily rate of SIB and staff interactions. Clinically significant reductions (i.e., > or = 33%) in SIB rate were observed for 3 of the 4 subjects. For all subjects, the magnitude of the sequential dependency between staff behavior and self-injury was significantly greater during treatment with naltrexone than during treatment with a placebo. Results are discussed in relation to behavioral mechanisms of action regulating medication effects for self-injury.
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PMID:Sequential analysis of the effects of naltrexone on the environmental mediation of self-injurious behavior. 1153 37

As part of an ongoing, prospective, ABA design, double-blind crossover study of risperidone versus placebo for the treatment of aggressive, destructive and self-injurious behavior in persons aged 6-65 years with mental retardation (MR) and autism, we measured the weight of 19 subjects at each study visit. We compared mean weight gain during the 16-week acute phase and 24-week open maintenance phase with that during the initial and middle placebo phases statistically, using a linear mixed model procedure. Results of the linear mixed model analysis showed that relative weight gain observed during the acute and maintenance drug phases was significantly greater than that observed during the initial and middle placebo phases respectively (p = .0001 and p = .0001). Over approximately a year, children aged 8-12 (n = 5) gained a mean of 8.2 kg (range = 2.7-17.7 kg); adolescents (n = 6) aged 13-16 gained a mean of 8.4 kg (range 3.6-15.5 kg); adults aged 21-51 (n = 8) gained a mean of 5.4 kg (range 0-9.5 kg). Weight gain observed in this controlled study of risperidone treatment in children, adolescents, and adults with MR and autism was significant. It may be greater in this population than in others reported and in this study was not limited to an acute effect only. Rate of weight gain diminished rapidly on tapering and stopping the drug. Further studies are urgently needed, including those incorporating diet and exercise programming.
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PMID:Weight gain in a controlled study of risperidone in children, adolescents and adults with mental retardation and autism. 1164 73

Self-injurious behaviour (SIB), most notably skin picking, has been described by various terms in the literature ranging from neurotic/psychogenic excoriations to compulsive/pathological skin picking. Prader-Willi Syndrome (PWS) is a neurogenetic multisystem disorder characterized by infantile hypotonia, mental retardation, short stature, hypogonadism, dysmorphic features, and hyperphagia with a high risk of obesity. Psychiatric manifestations include SIBs in the form of skin picking, nail biting and rectal gouging. Topiramate is a novel anti-epileptic medication without significant liability of weight gain. There are no published reports of topiramate being utilized in PWS or SIB. We report attenuation of SIB with resultant lesion healing in three PWS adults treated with topiramate in an 8-wk open-label trial. Although our findings should be treated with caution, they suggest that double-blind or cross-over studies with topiramate are warranted to establish the possible role of topiramate in attenuating SIB in PWS and other disorders that involve SIB.
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PMID:Topiramate attenuates self-injurious behaviour in Prader-Willi Syndrome. 1213 38


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