Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036341 (schizophrenia)
 60,220 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In the clinical picture of 121 patients from 1 to 14 years among the group of 250 with phenylketonuria (48.4%), besides symptoms of mild mental retardation, there were also signs of autism, shallow emotional reactions and catatonic disturbances. This group was distinguished as a special schizophreno-like variant of phenylketonuria. A study of the age and therapeutical dynamics of the psychotic symptomatology has demonstrated that the schizophreno-like syndrome in phenylketonuria may be transient (63 cases) and more stable (58 cases) and does not depend upon the content of hyperphenilalaninemia, the genetical variant of the disorder and hereditary loading by schizophrenia. It is concluded that the schizophreno-like symptomatology in phenylketonuria develops due to a pleiotropic effect of the phenylketonuric gene.
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PMID:[A schizophrenia-like variant of phenylketonuria]. 121 Sep 31

Heart transplant programs were surveyed regarding psychosocial evaluation process, criteria, and outcomes. There was considerable disagreement among programs when a patient is rejected on psychosocial grounds with regard to the use of second opinions and how often patients are informed of the reasons. Wide discrepancies in criteria used and rates of patients refused on psychosocial grounds were discovered. More than 70% of all programs excluded patients for transplantation on the grounds of dementia, active schizophrenia, current suicidal ideation, history of multiple suicide attempts, severe mental retardation, current heavy alcohol use, and current use of addictive drugs. Lack of consensus was found for some exclusion criteria (cigarette smoking, obesity, noncompliance, recent alcohol or drug abuse, criminality, personality disorder, mild mental retardation, controlled schizophrenia, and affective disorder). The proportion of patients rejected for transplantation on psychosocial grounds ranged from 0% to 37%, with an average rate of 5.6% in the United States and 2.5% in non-U.S. programs. This survey thus supports the need for research on the validity and reliability of psychosocial selection criteria.
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PMID:Psychosocial evaluation of heart transplant candidates: an international survey of process, criteria, and outcomes. 175 61

Twenty-five patients with mild mental retardation were compared with 26 schizophrenic patients of normal intelligence. The patients with retardation had suffered an earlier onset and were less likely to have been married or employed. However, the clinical phenomena exhibited by the two groups, as elicited by a SADS-L interview, were very similar. Thus, standardised interviews and criteria for schizophrenia can be readily applied to those with an IQ between 50 and 70.
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PMID:Assessing schizophrenia in adults with mental retardation. A comparative study. 201 30

Contingencies maintaining the bizarre speech of a 29-year-old woman with mild mental retardation and schizophrenia were analysed. Bizarre vocalizations occurred most frequently during demand conditions and least frequently during one-to-one interaction with attention contingent upon appropriate vocalizations. Treatment conditions derived from the assessment consisted of guided compliance and ignoring plus contingent attention. Treatment effects generalized to direct-care staff in day and residential settings. Analysis of the variables controlling bizarre speech facilitated development of interventions that were predominantly positive in nature, based on the specific and unique controlling behavior-environment interactions, and that were teachable to the direct-care staff.
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PMID:Functional analysis and treatment of bizarre speech. 323 97

Significantly more individuals with human leucocyte antigens (HLA) A9 and B27 have been identified in the group of chronic paranoid schizophrenics with early onset of the disease. It is known that individuals with HLA B27 have a markedly increased risk to fall ill from arthropathies (i.e. Bechterew's disease). Generally, it seems extremely rare that arthropathies and schizophrenia occur together in the same person. In 16 chronic paranoid schizophrenics with HLA B27 no form of arthropathy and in 288 arthropathic patients no case of schizophrenia could be detected (evidenced in a psychiatric case register). Furthermore in 131 arthropathic patients with HLA B27 no psychiatric disease (except one feeble-minded and one with alcohol problems) could be identified. On the other hand, in the group of arthropathic patients without HLA B27 the incidence of psychiatric diseases was 5 times higher than in the group with HLA B27 and so comparable to the morbidity of the normal population. It is conceivable that HLA B27 is a 'genetic marker' for arthropathy as well as for a defined subgroup of schizophrenia. These data agree with the hypothesis that schizophrenia and arthropathies are mutually exclusive in one individual.
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PMID:[HLA, schizophrenias and arthropathies]. 697 76

A family is presented with multiple cases of mild mental retardation, schizophrenia and other functional psychoses, progressive hearing loss, and retinitis pigmentosa (RP). It closely resembles a previously reported Finnish family. We suggest that the phenotypes are not associated in this family by chance, but define a novel syndrome which may be caused by a mutant allele at a single genetic locus.
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PMID:Schizophrenia and mental retardation associated in a pedigree with retinitis pigmentosa and sensorineural deafness. 772 8

Schizophrenia is considered to be a heterogenous disorder. Different etiopathological mechanism can be attributed to a similar clinical picture as described in DSM-III-R criteria. We present a case of a young man diagnosed on different occasions as schizophrenic with mild mental retardation. Clinical examination revealed signs and symptoms most compatible with the diagnosis of Lujan-Fryns syndrome, an X-linked mental retardation syndrome with marfanoid features, frequently associated with psychotic or other psychiatric symptoms. In all patients with symptoms of schizophrenia and mental retardation Lujan-Fryns syndrome should be considered in the differential diagnosis.
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PMID:Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. 872 50

Studies of psychiatric morbidity in Nigerian prisons have not involved assessment for specific psychiatric disorders. The general aim of this study was to highlight the prevalence of psychiatric morbidity among convicted inmates at a medium security prison in Nigeria. In a one month period in 1996, 100 inmates (93% males, mean age, 31.4 years) of the prison in Benin City, were assessed, using the General Health Questionnaire (GHQ-30) and the Psychiatric Assessment Schedule (PAS). The 34 subjects who scored upto GHQ-30 cut-off, four, had specific axis I DSM III-R diagnoses, including, schizophrenia in two, major depression in two in recurrent mild depression in twenty one, generalised anxiety disorder in eight and somatisation disorder in one. On axis II, six subjects had antisocial personality disorder while another subject had probable mild mental retardation. On Axis III, 15 subjects had chronic physical illnesses, including one with epilepsy. Twenty five inmates had past histories of drug abuse prior to imprisonment, including cannabis (11%) and alcohol (13%). Total PAS scores were significantly predicted only by GHQ scores and length of stay in prison. There was no association between offence committed and psychiatric morbidity. Most subjects with psychiatric morbidity developed these illnesses while in prison. The findings differed from the situation in developed countries where personality disorders and substance use are much more prevalent. The fairly high level of psychiatric disorders underscores the need to improve medical services in the prison.
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PMID:Prevalence of psychiatric morbidity among convicted inmates in a Nigerian prison community. 960 30

Deletion of chromosome 22q11 concerns nearly 1/5.000 births, and is the most frequent interstitial microdeletion. The deletion generates various phenotypes which were initially regarded as distinct syndromes. 1) Di George syndrome was described in 1962 by immunologists, and associates thymic and parathyroid hypoplasia, cardiac malformation, and dysmorphic face; the prognosis is severe, as Di George syndrome is a life-threatening condition. 2) The velocardiofacial syndrome was described in 1978 by stomatologists, and associates palate abnormalities, cardiac malformations, dysmorphic faces, and learning disabilities. 3) The Takao syndrome was described in the late seventies by cardiologists as a clinical condition associating cardiac abnormalities and dysmorphic faces. During the nineties, a common molecular etiology was identified, and a new name proposed: CATCH 22, an acronyme for Cardiac abnormalities, Abnormal face, Thymic hypoplasia, Cleft palate, Hypocalcemia, deleted chromosome 22. Furthermore, new phenotypes have been recently recognized, most of them belonging to the psychiatric spectrum. Descriptive studies of large samples of children with 22q11 deletion, conducted, both in the United States and european countries, have shown the following pattern of associated symptoms:--abnormal face (100%), which expression varies with age, and can be discrete;--cardiac abnormalities (84%), including cardiac malformations of conotroncal types;--mouth abnormalities (49%), including cleft palate (14%), and velar dysfunction (20%);--urinary tract abnormalities (36%), including ureteric reflux, lung dysplasia;--transitory hypocalcemia (60%) mostly during infancy, and due to transitory hypoparathyroid dysfunction;--seizures (21%), which are usually a consequence of hypocalcemia;--immunodeficiency (1%), which worsens the prognosis. Deletion of chromosome 22q11 has been also associated with various psychiatric phenotypes, which can be classified into two groups, developmental abnormalities and psychiatric conditions. The great majority of patients with the deletion exhibit impairment of language and motor development, mild mental retardation, persistent coordination deficits, and poor academic performance. The deletion of chromosome 22q11 is also associated with high frequency of behavioral disorder with attention deficit during childhood, and with high frequency of psychotic disorder (bipolar disorder, and schizophrenia) during adolescence and young adulthood. The link between the 22q11 deletion and schizophrenia has been also supported by recent studies showing that the rate of 22q11 deletion in adults with schizophrenia (2%) is higher than it is in the general population. The rate may even be higher (6%) in subjects with childhood onset schizophrenia. The present work reviews the psychiatric literature associated with 22q11 deletion. We also report a case of 22q11 deletion in a 17-year-old girl that was initially diagnosed as paranoid schizophrenia. We will discuss the diagnostic, prognostic, and therapeutic consequences that such a genetic diagnosis implies. In the case reported here, transitory hypocalcemia induced: 1) dystonic symptoms that was believed to be catatonic symptoms or neuroleptic secondary effects, by clinicians; 2) a poor response to neuroleptic medication.
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PMID:[Microdeletion 22q11: apropos of case of schizophrenia in an adolescent]. 1129 38

Congenital dysmorphic features are prevalent in schizophrenia and may reflect underlying neurodevelopmental abnormalities. A cluster analysis approach delineating patterns of dysmorphic features has been used in genetics to classify individuals into more etiologically homogeneous subgroups. In the present study, this approach was applied to schizophrenia, using a sample with a suspected genetic syndrome as a testable model. Subjects (n = 159) with schizophrenia or schizoaffective disorder were ascertained from chronic patient populations (random, n = 123) or referred with possible 22q11 deletion syndrome (referred, n = 36). All subjects were evaluated for presence or absence of 70 reliably assessed dysmorphic features, which were used in a three-step cluster analysis. The analysis produced four major clusters with different patterns of dysmorphic features. Significant between-cluster differences were found for rates of 37 dysmorphic features (P < 0.05), median number of dysmorphic features (P = 0.0001), and validating features not used in the cluster analysis: mild mental retardation (P = 0.001) and congenital heart defects (P = 0.002). Two clusters (1 and 4) appeared to represent more developmental subgroups of schizophrenia with elevated rates of dysmorphic features and validating features. Cluster 1 (n = 27) comprised mostly referred subjects. Cluster 4 (n = 18) had a different pattern of dysmorphic features; one subject had a mosaic Turner syndrome variant. Two other clusters had lower rates and patterns of features consistent with those found in previous studies of schizophrenia. Delineating patterns of dysmorphic features may help identify subgroups that could represent neurodevelopmental forms of schizophrenia with more homogeneous origins.
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PMID:Patterns of dysmorphic features in schizophrenia. 1180 19


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