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Query: UMLS:C0036341 (schizophrenia)
 60,220 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The recent discovery that expanding trinucleotide repeats are a form of mutation is a radical departure from the traditional genetic principles of inheritance based on the stable transmission of DNA sequences. The concept that a gene may be altered from tissue to tissue in a single individual or from one generation to the next and that it may confer increasing mutability on itself has provided some insight into the phenomenon of anticipation as manifested by increasing severity, declining age of onset, and increasing penetrance in several inherited disorders. This concept raises the question of how common this mutational mechanism may be in the causes of genetic disease. For example, expansions of trinucleotide repeats may be the underlying mechanism for other disorders that show features suggestive of anticipation such as schizophrenia, bipolar affective disorder, autism and other hereditary ataxias. Expressed genes with trinucleotide repeats have been observed in fetal and adult brains. A recent approach to identifying expanded repeats may simplify the process of finding candidate genes. It is intriguing to speculate how often observations such as intrafamilial variation and even new mutations may be due to such a mechanism. Systematic studies of families with disorders found to be associated with such repeats will be necessary. The implications in genetic counseling for prediction of postnatal outcome as well as risks of recurrence are truly staggering. Meanwhile, the immediate benefit of the knowledge of trinucleotide repeat expansions concerning the six disorders discussed will be the application of direct methods of diagnosis avoiding linkage analysis. The long-term benefits may very well be the discovery of more effective treatment modalities based on correction of the gene defects. Exciting times for human genetics appear to be at hand.
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PMID:Genetic anticipation. Expanding tandem repeats. 784 37

The auditory P300 response and smooth pursuit eye tracking were recorded from a group of 23 male adult subjects who had been diagnosed in childhood as having schizoid personality. No differences were found in these physiological measures between the study group, their matched controls of other child psychiatric patients, and a group of population controls. The essentially negative findings are discussed in the light of abnormalities of these psychophysiological responses previously found in schizophrenic patients, in some of their biological relatives, and in other groups of psychiatric patients, including autistic children and adults with a diagnosis of borderline and schizotypal personality disorder. Results suggest that "schizoid" children, despite their high scores on a measure of schizotypy, do not have schizophrenia spectrum disorder or that schizotypy is a heterogeneous condition.
J Autism Dev Disord 1994 Aug
PMID:"Schizoid" personality in childhood: auditory P300 and eye tracking responses at follow-up in adult life. 796 32

The author noticed a specific symptom of autism which has rarely been reported. Some autistic children and adolescents suddenly remember an event in the distant and treat it as if it were happening right now. Although ecmnesia are known as similar recollection phenomenon, this phenomenon seems closely related to autism itself, so the author calls this symptom "the time slip phenomenon." In this paper, the symptom is described and the phenomenon is analyzed psychopathologically. Of 120 autistics who were more than 6 years of age and who were being followed-up by the author, 8 patients showed the time slip phenomenon at the time of investigation, and in 15 others this phenomenon had been noticed by their family in the past. Of 66 mentally retarded patients who were more than 6 years of age, only 1 had a similar sudden recollection of a past event. Statistical significance (p < .05) was shown between autistics and mentally retarded. The time slip phenomenon can be summarized by the following clinical characteristics: 1. The time slip phenomenon was seen in autistic patients who had high intellectual ability but were unstable and maladjusted emotionally. 2. The trigger was mood or an emotional experience at the time, and patients recalled the past event, which had sometimes occurred ten years before or more, in the same emotional state as it had occurred. 3. The autistics treated the remembered event as if it were happening right now or as if it had just occurred. 4. Patients sometimes recalled events that occurred as early as at one to two years of age when they had just started or even before they had started talking, that is, at an age when it is usually impossible for the average person to remember. In comparison with frequent recollection phenomena of other psychiatric disorders, the time slip phenomenon was similar to the pattern of recollection seen in post-traumatic stress disorders, but differed in that the remembered experience of the time slip phenomenon was not traumatic. Recollection phenomenon seen in borderline personality disorders and schizophrenic disorders differed from the time slip phenomenon, because there were distortions of the recalled events in these other disorders. Reports of recollections by autistic adults revealing a very threatening world in early life even in high function autism make the author suspect that the early life of the autistic is experienced as frightening even under ordinary circumstances.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[A specific recollection phenomenon seen in autistic patients: the time slip phenomenon in autism]. 801 80

Programmed cell death, sometimes referred to as apoptosis, occurs through an active process requiring new gene transcription, in contrast to the passive cell death produced by metabolic toxins. Programmed cell death is an essential part of normal development, particularly in the nervous system. Spatial, temporal, or quantitative errors in the stimuli that initiate programmed cell death, or errors within the programmed cell death pathway itself, can result in an abnormal number of neurons and pathological neural development. Excesses and deficits in neuronal numbers have now been observed not only in typical neurodegenerative disorders such as Alzheimer's and Huntington's diseases, but also in several neurodevelopmental disorders, including schizophrenia and autism. Recent investigations into the mechanisms of cell death during C. elegans neurodevelopment thymocyte negative selection, and withdrawal of sympathetic ganglion cells trophic support provides intriguing clues to the etiology and pathophysiology of these neuropsychiatric disorders.
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PMID:Programmed cell death: implications for neuropsychiatric disorders. 808 Aug 94

Chromosomal fragility and other chromosomal abnormalities were frequently observed in subjects with neuropsychiatric disorders, such as fragile X syndrome, autism or schizophrenia, but only for the first one the fragility is accepted to be associated to a specific pathology, so that it is used as a diagnostic marker. In this study the authors analyzed 50 schizophrenic males, searching for the rare fragile sites or other aberrations with the method suitable for fra(X) detection. Chromosomes from schizophrenic patients resulted more fragile than those from normal controls, especially chromosome 9. The authors discuss the implications of a possible association of these data with the aetiopathogenesis of schizophrenic syndrome.
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PMID:Evidence of chromosomal fragile sites in schizophrenic patients. 821 21

The issue of specificity of delusions in schizophrenia is still a matter of debate. The authors analyze the delusion formation in schizophrenia from a prototypical, phenomenological point of view, focusing on the subject's experience. This perspective links delusion formation to the autistic predisposition, which is considered here as the elementary phenotypic expression of the vulnerability to schizophrenia. Autism is viewed as a defective preconceptual (i.e., before language) attunement to the world. It impedes the individual's sharing of "common sense" with others and impairs the ability to project into the future. The development of delusions is illustrated, in part, by Klaus Conrad's work on the onset of paranoid schizophrenia. Delusions are viewed as transformations of the structure of experiencing. When threatened in future ability to be, the autistic, vulnerable person looks for the clues to becoming by attributing significance to disparate elements of the environment, which become self-referential. The link established between these disparate elements is based on universal characteristics that give the schizophrenic delusion a metaphysical quality. The transitivistic experience in delusions of control and omnipotence points to a specific way of crossing the border between "mine" and "yours" (disturbances of the experiencing "I"). What strikes a clinician in these delusions is that the normally tacit link between the sense of being and the sense of acting becomes quite apparent. The authors also propose a specificity in the themes of schizophrenic delusions. Delusions acquire a schizophrenic quality when ontological (i.e., universal) elements of the discourse between the locutor and the Other dominate at the expense of the worldly elements. It is emphasized that delusional content and form are dialectically related and hardly distinguishable. The authors consider the delusion formation as a phenomenon of emergence, a situation in which a new qualitative order arises from the reorganization of essentially unchanged elements. To consider schizophrenia as an emergent, particular way of experiencing, related to the autistic defect, has important consequences for research and for treatment. A dialectic exchange is needed between prototypical models generated by phenomenological inquiry and empirical, operational validation of testable aspects of such models.
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PMID:Schizophrenic delusions: a phenomenological approach. 823 60

This paper describes the development of the PAS-ADD, a semistructured clinical interview for use specifically with patients with learning disabilities, based on items drawn from the PSE. The PAS-ADD includes a number of novel features including: parallel interviewing of patient and informant; a three-tier structure to provide a flexible interview appropriate to the patient's intellectual level; use of a memorable 'anchor event' in the patient's life to improve time focus; and simplified wording, improved organisation and lay out. Inter-rater reliability was investigated using an experimental design in which two raters viewed and re-rated videotaped PAS-ADD interviews which had been conducted by an experienced clinician. Reliability results compared favourably with those obtained in a major study of PSE reliability with a sample drawn from non-learning disabled individuals. Mean kappa for all items was 0.72. Other indexes of reliability were also good. In the current phase of development, the PAS-ADD is to be expanded to include further diagnostic categories, including schizophrenia and autism. The new version will be updated for use with ICD-10 criteria.
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PMID:Psychiatric morbidity in older people with moderate and severe learning disability. I: Development and reliability of the patient interview (PAS-ADD). 825 86

This study examined the outcome of youth previously diagnosed with psychotic disorders at a public-sector tertiary care hospital. Of 95 children and adolescents retrospectively identified, follow-up information (mean interval 3.9 years) was obtained on 24 subjects with an outcome diagnosis of schizophrenia, 9 with psychotic mood disorders, 5 with personality disorders (antisocial or borderline), and 1 with schizo-affective disorder. The schizophrenic group was more often odd premorbidly and functioned worse at outcome, while the mood-disordered group had a shorter follow-up period and was more often anxious or dysthymic premorbidly. The personality-disordered group resembled the schizophrenics in their degree of impairment and chronicity. All three groups had high rates of family disruption, low SES, substance abuse, and chronicity, and were similar in their degree of premorbid impairment, length of prodrome, age of onset, initial diagnosis, and family psychiatric history. Misdiagnosis at onset was quite common and highlights the need for systematic longitudinal assessment of early onset psychotic disorders.
J Autism Dev Disord 1993 Jun
PMID:A follow-up study of early onset psychosis: comparison between outcome diagnoses of schizophrenia, mood disorders, and personality disorders. 833 Oct 46

Research was conducted on a sample of 100 patients. The diagnosis was carefully verified according to the DSM-III. The "Syntonic" Scale and the "Autism" Scale, described in a separate paper were used. A literature review was performed with special attention to the fact that surprisingly rarely are references made to syntonia in research upon schizophrenic patients. The results are presented in table 1 and Figures 1 and 2. In all of the 100 subjects both factors studied were present though to varying degrees of severity. Both factors showed evident characteristics of selectivity. The numerical data revealed a definite predominance of autism over syntony, which is a well known fact in schizophrenia, however, of significant importance is the presence of syntony as an additional factor. The correlation variable of both scales is expressed by r = -0.79, which indicates that there is a strong negative relationship. For the needs of further analysis the groups were split into smaller subgroups. Subgroup I was characterized by the predominance of autism over syntony (47 cases). In subgroup II a predominance of syntony over autism was found (33 cases). On the basis of greater confidence the subgroup III was described, which contained the cases in which neither factor was predominant (20 cases). The majority of the sample of patients ill with schizophrenia showed the ability to react syntonically. The obtained results support the view that autism and syntony are two poles of the same dimension, they also support the hypothesis which states that there is evidence to suggest that the are two basic subgroups of paranoidal schizophrenia.
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PMID:[Further research into the formation of the syntonic-autistic relationship in paranoid schizophrenia]. 835 75

Single-photon emission computed tomography (SPECT) of the brain has been used to define functional abnormalities in two groups of childhood behavior disorders: (1) a "primary" category in which there is exclusive or predominant presentation with cognitive and/or behavioral dysfunction and (2) encephalopathies, often defined etiologically at the biochemical or molecular level, in which clinical expression includes, but is not confined to, neural dysfunction. Radiopharmaceuticals available for such studies are manifold, but those used to date have been predominantly perfusion agents, eg, Xenon-133 (133Xe) and technetium-99m (99mTc) hexamethylpropylene amine oxime, and studies with [99mTc]bicisate are eagerly awaited. Xenon-133 studies require that the patient be in the field of view of the detector while the tracer is administered. This renders it difficult for a subject to perform cognitive and other exercises while being imaged, because the environment is quite foreign. On the other hand, the 99mTc-labeled perfusion agents permit a scintigraphic "snapshot" of regional cerebral blood flow during a behavioral event without having to have the patient under the imaging instrument. Thus, one can separate the administration of the radiotracer, which can be done under more controlled and physiological conditions, from the actual imaging. In addition, greater spatial resolution is achieved with the technetium-based agents. Currently, multidetector or dedicated annular crystal-type cameras are the preferred brain SPECT devices, and they are essential to applications such as cortical "activation mapping" or tomographic detection of receptor systems. Close attention to technical detail and standardization of the child's behavioral environment during the investigation are critical to a successful study. The relative advantages and disadvantages of qualitative versus semiquantitative analysis of imaging date are reviewed. Among primary behavioral disorders, 133Xe SPECT studies in attention deficit disorder-hyperactivity (ADHD) have suggested a pattern of hypoperfusion of striatal and periventricular structures with sensorimotor cortical hyperperfusion. This pattern is consistent with some neurophysiological models of the disorder. In cerebral palsy, perfusional abnormalities have paralleled clinical deficits and may offer information to help predict outcome. The important field of childhood affective disorders (schizophrenia, juvenile autism, depression, etc) remains largely unstudied with SPECT. Finally, representative examples of the use of SPECT to study perfusion in encephalopathies with behavioral expression (phenylketonuria, MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) syndrome, Wilson's disease, etc) are given.
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PMID:Brain single-photon emission computed tomography for behavior disorders in children. 837 98


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