Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A sex-linked familial neurological disease consisting of cerebral palsy, mental retardation, choreoathetosis, and compulsive aggressive behavior is associated with a loss of an enzyme that participates in purine metabolism, namely, hypoxanthine-guanine phosphoribosyltransferase. The production of excessive uric acid in this disorder implies that the enzyme is involved in the normal regulation of purine biosynthesis. This is the first example of a relation between a specific enzyme defect and abnormal compulsive behavior. It is also the first enzyme defect in purine metabolism demonstrated in a neurological disease.
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PMID:Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. 602 Feb 92

Direct observation of blink rate was used as a noninvasive, in vivo estimate of dopamine function in adults with mental retardation and repetitive behavior disorders. Blink rate as measured in groups of stereotypy, compulsion, and control subjects was highly stable. Subjects with stereotypies had significantly lower blink rates than did control subjects. Although blink rates for compulsive subjects were not significantly different from those of control subjects, a subgroup of compulsive subjects with comorbid stereotypic behaviors displayed significantly lower blink rates. Significant inverse correlations were found for blink rate and severity of repetitive behavior disorder and for blink rate and ratings of motor slowness. These findings support the hypothesis that stereotyped behavior among adults with mental retardation is mediated by hypodopaminergic function.
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PMID:Blink rate as an index of dopamine function in adults with mental retardation and repetitive behavior disorders. 769 76

A set of research diagnostic criteria was developed to identify potential obsessive-compulsive disorders among individuals with mental retardation and aberrant behaviors. The behavior disorders of 10 subjects who met criteria for compulsive behavior disorder and 6 subjects who did not (comparison subjects) were treated using the medication fluoxetine. All subjects were evaluated using an A-B open-trial method with 4-month baseline and treatment phases. Seven of the 10 subjects with compulsive behavior disorder responded favorably to fluoxetine treatment; none of the comparison subjects responded favorably to this medication. Further, there appeared to be a relation between manifest motor stereotypies, compulsive behaviors, and response to fluoxetine.
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PMID:Diagnosis and fluoxetine treatment of compulsive behavior disorder of adults with mental retardation. 829 12

A variety of conceptual similarities between compulsions seen in individuals with obsessive compulsive disorder and stereotypy and self-injury seen in individuals with mental retardation led us to investigate the prevalence, phenomenology, and comorbidity of compulsions in adults with severe or profound mental retardation. We developed simple assessment screening instruments for stereotypy and self-injury and used Gedye's Compulsive Behavior Checklist and found acceptable levels of reliability, stability, and validity for each instrument. Prevalences were as follows: stereotypy: 60.9%; self-injury: 46.6%; and compulsion: 40%. The occurrence of compulsions was significantly positively associated with the occurrence of stereotypy, self-injury, and stereotypy plus self-injury.
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PMID:Compulsions in adults with mental retardation: prevalence, phenomenology, and comorbidity with stereotypy and self-injury. 852 13

We have recently observed that compulsive behaviors in mentally retarded patients appear to be quite prevalent, can be reliably assessed, and have a high rate of co-occurrence with stereotyped and self-injurious behaviors in this population. As abnormal growth rate has been observed in obsessive-compulsive disorder (OCD) patients, we examined physical stature in adults with mental retardation who display repetitive movement disorders. Identification of cases with stereotypic movement disorder, and cases with compulsive behaviors was done using a symptom checklist and direct observation. Subjects with repetitive movement disorders were smaller in stature than control subjects, with gender differences observed across repetitive behavior disorders. Specifically, female subjects with compulsive behavior disorder, but not stereotypic movement disorder, were significantly shorter and weighted significantly less than same sex-matched controls. Conversely, male subjects with stereotypic movement disorder, but not compulsive disorder, were significantly shorter and weighed significantly less than same sex controls. These findings may point to a neuroendocrine abnormality associated with repetitive movement disorders.
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PMID:Growth differences associated with compulsive and stereotyped behavior disorders in adults with mental retardation. 916 Jun 7

We describe the cognitive and behavioral characteristics of five individuals with a ring X chromosome. All subjects had a small active (early replicating) ring X chromosome. The X inactive specific transcript (XIST) locus was confirmed by fluorescent in situ hybridisation (FISH) to be present in all ring X chromosomes. Mental retardation was present in four individuals. All patients with or without mental retardation had a characteristic profile of aggression toward self and others, episodes of screaming, attentional problems, and impulsiveness. Autistic-like features were also present in all individuals and included limited communication, obsessive compulsive behavior, and social difficulties. In some cases the obsessive behavior was extreme and incapacitating. This characteristic behavioral profile may aid the diagnosis and future understanding of ring X.
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PMID:Social, communicational, and behavioral deficits associated with ring X turner syndrome. 1049 Jul 8

On gray-scale transfontanel sonography, the small arteries supplying the basal ganglia are indistinct from the brain parenchyma in normal infants. Bright linear 'branched candlestick' stripes in these regions, suggesting sonographic lenticulostriate vasculopathy, were reported in more than 200 infants in the English literature; including 34 our own patients. To identify its long-term outcome, a prospective study was accomplished on our 34 infants with sonographic lenticulostriate vasculopathy which included 13 cryptogenic cases and 21 with distinct etiologies. At the age of 7 to 9 years in the cryptogenic group, 7 in 13 patients developed tics, attention deficits, hyperactivity, and/or obsession/compulsion; while in the symptomatic group only 2 of 21 patients had tics. The rate of mortality (33% vs. 0%), developmental delay (24% vs. 8%), mental retardation (24% vs. 0%), and neurologic deficits (29% vs. 0%) were significantly higher in the symptomatic group than the cryptogenic group. Comparatively, the occurrence rate of attention deficit-hyperactivity disorder (10% vs. 54%), tics (10% vs. 38%), and obsessive-compulsive disorder (5% vs. 13%) were significantly lower in the symptomatic group than the cryptogenic group. The rates of these neuropsychiatric disorders were 10% in the symptomatic group and 54% in the cryptogenic group. We concluded that idiopathic sonographic lenticulostriate vasculopathy in infancy may predict development of neuropsychiatric disorders later in childhood.
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PMID:Sonographic lenticulostriate vasculopathy in infancy with tic and other neuropsychiatric disorders developed after 7 to 9 years of follow-up. 1498 Mar 72

The purpose of this study was to examine the psychiatric characteristics of children with Prader-Willi syndrome in Korea, focusing particularly on their behavioral problems and obsessive-compulsive spectrum symptoms. Fourteen patients with Prader-Willi syndrome, together with their parents, underwent a psychiatric interview and parent questionnaire consisting of a Child Behavior Checklist. Twenty-four patients with mental retardation and 45 normal students were selected as control groups. Compared with the normal control group, the rates of inclusion in the clinical range and the mean scores with regard to social problems, thought problems, attention problems, delinquent behavior, aggressive behavior, externalizing problems, and total problems profiles were significantly higher (P < .01) in the Prader-Willi syndrome group according to the results of the Child Behavior Checklist. Compared with the mental retardation group, there was a statistically significant (P < .05) difference in the delinquent behavior profile. Comparing selected Child Behavior Checklist items related to obsessive-compulsive spectrum symptoms, the Prader-Willi syndrome group showed significantly more (P < .05) compulsion, skin picking, and stealing than the mental retardation or normal control groups. These findings suggest that children with Prader-Willi syndrome in Korea have many behavioral problems, including obsessive-compulsive spectrum symptoms, needing proper psychiatric attention and treatment. This is the first study in Korea to evaluate the psychiatric and behavioral characteristics of children with Prader-Willi syndrome.
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PMID:Behavioral characteristics of Prader-Willi syndrome in Korea: comparison with children with mental retardation and normal controls. 1579 80

Stereotypies have been defined as non-goal-directed movement patterns repeated continuously for a period of time in the same form and on multiple occasions, and which are typically distractible. Stereotypical motor behaviors are a common clinical feature of a variety of neurological conditions that affect cortical and subcortical functions, including autism, tardive dyskinesia, excessive dopaminergic treatment of Parkinson's disease and frontotemporal dementia. The main differential diagnosis of stereotypies includes tic disorders, motor mannerisms, compulsion and habit. The pathophysiology of stereotypies may involve the corticostriatal pathways, especially the orbitofrontal and anterior cingulated cortices. Because antipsychotics have long been used to manage stereotypical behaviours in mental retardation, stereotypies that present in isolation tend not to warrant pharmacological intervention, as the benefit-to-risk ratio is not great enough.
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PMID:Adult-onset stereotypical motor behaviors. 2749 41