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

Comparison of the properties of blood platelets and serotonergic synaptosomes suggests that the human platelet can serve as an appropriate model for the transport, metabolism, and release of serotonin (5-HT) by CNS serotonergic neurons. The study of blood 5-HT levels and platelet 5-HT pharmacodynamics in patients with a variety of psychiatric and neurologic disorders has generated interesting leads into possible abnormalities of CNS 5-HT neurons in these patients. This article reviews the experimental evidence, which uses the human platelet model to investigate neurotransmitter-related abnormalities in Down syndrome, mental retardation, infantile autism, hyperactivity syndromes (minimal brain dysfunction), schizophrenia, affective disorders, Duchenne muscular dystrophy, Parkinson disease, Huntington chorea, and migraine headaches.
Arch Gen Psychiatry 1977 May
PMID:The human platelet. A diagnostic and research tool for the study of biogenic amines in psychiatric and neurologic disorders. 14 Jun 32

This study was conducted to compare DSM-II and DSM-III in the diagnosis of childhood and adolescent psychiatric disorders. Twenty psychiatrist-raters completed standardized diagnostic questionnaires for 24 actual case histories. This report, the first of four, presents the rater agreement with the "expected diagnosis," ie, the diagnosis that we considered most appropriate for each case. The average rater agreement with the expected diagnosis was less than 50%. It was highest in cases of mental retardation, psychosis, hyperactivity, and conduct disorder. In only five cases did the most common diagnosis of the raters differ from the expected diagnosis. Analyses of these cases and those we selected to present specific diagnostic problems to the raters have produced suggestions to improve the reliability of DSM-III.
Arch Gen Psychiatry 1979 Oct
PMID:A comparison of DSM-II and DSM-III in the diagnosis of childhood psychiatric disorders. I. Agreement with expected diagnosis. 48 78

A case-history format was utilized to compare interrater agreement on childhood and adolescent psychiatric disorders, using DSM-II and DSM-III. The average interrater agreement was 57% for DSM-II and 54% for axis I (clinical psychiatric syndrome) of DSM-III. There was high agreement in both systems on cases of psychosis, conduct disorder, hyperactivity, and mental retardation, with DSM-III appearing slightly better. There was noteworthy interrater disagreement in both systems for "anxiety" disorders, complex cases, and in the subtyping of depression. Overall, the reliability of DSM-III appears to be good and is comparable with that of DSM-II and other classification systems of childhood psychiatric disorders.
Arch Gen Psychiatry 1979 Oct
PMID:A comparison of DSM-II and DSM-III in the diagnosis of childhood psychiatric disorders. II. Interrater agreement. 48 79

In a study of nine Klinefelter syndrome patients obtained from a military population, all were found to have normal electroencephalograms (EEGs), all were clinically euthyroid, and had normal thyroid function test results. All had normal verbal and nonverbal IQs and no evidence of neurologic dysfunction on psychological testing. There was a high incidence of personality maladjustment as indicated by both the Minnesota Multiphasic Personality inventory and individual psychiatric evaluation. No particular personality pattern appeared typical for the group as a whole. Neurologic dysfunction, as manifest by EEG abnormality, mental retardation, or neuropsychological test deficits, and hypothyroidism are not necessarily associated with Klinefelter syndrome. Likewise, although the incidence of personality disorders may be strongly associated with this disorder, no specific personality type appears especially characteristic of the syndrome.
Arch Gen Psychiatry 1976 May
PMID:Klinefelter syndrome in a military population. Electroencephalographic, endocrine, and psychiatric status. 126 76

The child that is slow to walk causes concern. When cerebral palsy, mental retardation and muscular dystrophy have been excluded, what remains? Thirty five children (19 boys and 16 girls) with hypermobile joints, blue sclera and bat ears (the 'lax ligament syndrome') were referred by general practitioners to a general paediatric outpatient clinic over two years. Three were referred in the first three months of life because of clicking hips; 14 children aged one to two years, had delayed milestones of motor development and exhibited bottom shuffling; 10 children aged four to five years presented with 'growing pains' or 'funny gait' and eight older children had multiple minor complaints. The lax ligament syndrome is a comparatively common mild collagenopathy. It may well come to light on routine surveillance in general practice. It is dominantly inherited and improves with time; management is therefore expectant and symptomatic. A firm and reassuring diagnosis can be given which saves both anxiety and investigations.
Br J Gen Pract 1990 Jun
PMID:Lax ligament syndrome in children associated with blue sclera and bat ears. 211 44

The last ten years of research on the genetics of infantile autism were critically reviewed. Epidemiologic findings have shown that autism is a rare disorder with a prevalence of two to five per 10,000, a male-female ratio of 3:1, and an association with mental retardation (66% to 75% of autistic subjects have full-scale IQ scores [70]). Autism is familial, as reflected in an empiric sibling recurrence risk of 3% and pooled monozygotic and dizygotic concordance rates of 64% and 9%, respectively, which are much greater than the population prevalence of 0.02% to 0.05%. Genetic heterogeneity is pronounced with potential genetic subgroups, including autosomal recessive inheritance, X-linked inheritance, and sporadic chromosomal anomalies. Studies of subclinical markers in autism have elucidated potential markers at various levels of phenotypic expression from the DNA to the behavioral level. Linkage and cytogenetic studies point to two chromosome regions as putative markers, 9q34 and Xq27. Results of family studies support a putative biochemical marker, low levels of plasma dopamine-beta-hydroxylase, and a putative cognitive marker, ie, normal visuospatial but low verbal functioning, in autism. The frequency of minor physical anomalies and presence or absence of mental retardation are two dimensions of the physical and behavioral phenotype that may demark etiologically distinct subgroups. Genetic heterogeneity is offered as one explanation of the observed sex difference in the prevalence of autism. Directions for potentially fruitful research should be considered.
Arch Gen Psychiatry 1988 Oct
PMID:Autism and genetics. A decade of research. 304 27

Fragile X syndrome, an X-linked genetic condition, is an important genetic cause of mental retardation in males. In addition to mental retardation, hemizygous males with fragile X syndrome appear to have a greater likelihood of displaying behaviors classified under the diagnostic category of pervasive developmental disorder than would be expected on the basis of mental retardation alone. Although the majority of female heterozygotes with the fragile X genetic defect are of normal intelligence, our clinical work with this population and a recent case report have suggested that females with fragile X syndrome have an increased rate of schizophrenia spectrum and affective disorders. In this study, the relationship of the fragile X genetic defect to psychopathology in female heterozygotes is investigated by psychiatric evaluation of 35 obligate female carriers of the fragile X chromosome and a comparison group of 24 fragile X-negative controls. Female fragile X carriers were found to have a greater frequency of psychopathology associated with schizophrenia spectrum diagnoses, particularly schizotypal features. A weaker association between the fragile X genetic defect and chronic affective disorders was detected. The specificity of the neuropsychiatric phenotype occurring in particular genetic conditions such as the fragile X syndrome adds a potentially valuable tool to the study of psychopathology in the general population.
Arch Gen Psychiatry 1988 Jan
PMID:Psychiatric disability in female carriers of the fragile X chromosome. 333 8

Mortality was investigated in 881 male and 450 female formerly hospitalized child psychiatric patients in a four- to 15-year follow-up. Death from natural causes was not increased, but death from unnatural causes occurred at a rate more than twice as high as expected based on age- and sex-matched comparisons with the general population of the state of Iowa. Increased risk of unnatural death was found in five of eight psychiatric diagnostic categories but was significant only for Mental Reasoning, a category that combined patients with organic mental disorders, schizophrenia, or mental retardation. Clinical variables associated with an excess rate of unnatural death included age 15 years or older at the time of admission, the absence of a second psychiatric diagnosis, the presence of previous psychiatric hospitalizations, and the presence of a seizure disorder. Among the 23 unnatural deaths, the 11 (47.8%) suicides were excessive, but accidents and homicides were not.
Arch Gen Psychiatry 1988 Mar
PMID:Excess mortality among formerly hospitalized child psychiatric patients. 334 82

Twenty-five published reports were reviewed regarding the occurrence of affective illness, ie, depression and mania, in mentally retarded individuals, using the DSM-III criteria to assess the validity of both diagnoses. Individuals with mental retardation (MR) were found to manifest the full range of affective disorders. Developmentally impaired social functioning and intelligence influence the clinical presentation, but not the development, of affective symptomatology. Affective disorder diagnoses can be made for patients with all levels of MR severity. In individuals with MR of mild and moderate severity, the diagnosis can be made using standard DSM-III criteria. For those with severe and profound MR, a clinically useful diagnosis can be based on changes in behavior and vegetative functioning, as well as family history of affective illness. The psychiatrically symptomatic person with MR should always be evaluated for affective symptomatology and be considered as a candidate for the full range of treatments, including psychotherapy and pharmacotherapy with antidepressants as well as lithium carbonate.
Arch Gen Psychiatry 1983 Jan
PMID:Do the mentally retarded suffer from affective illness? 684 21

Many people with developmental disabilities and "challenging behaviors" present to primary care physicians, internists, or general psychiatrists for assessment and treatment. These clinicians seek to provide the comprehensive biopsychosocial assessment necessary for successful treatment, but may encounter interference from funding agencies. Epidemiologic data on medical comorbidity in persons with developmental disabilities with a primarily "behavioral" presentation may assist in facilitating these assessments. A total of 1135 people with mental retardation referred for mental health assessment were medically evaluated according to a two-step protocol which included a screening evaluation of all persons and expanded testing, depending on clinical status. The workup was considered complete when the person with either improving clinically or had a specific terminal diagnosis and was as comfortable as possible. Medical comorbidity was about double that of people referred for mental health assessment who do not have mental retardation. Common conditions presented in unusual ways, and less frequent conditions presented more often. The cost of the medical assessments was promptly recovered in a variety of savings to systems. Comprehensive medical assessment discloses increased medical comorbidity in persons with mental retardation referred for psychiatric evaluation. Comprehensive treatment based on the assessment findings appears to be associated with better clinical outcomes and cost savings to systems.
Gen Hosp Psychiatry 1997 Jul
PMID:Medical evaluation of persons with mental retardation referred for psychiatric assessment. 932 56


1 2 Next >>