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)

One hundred consecutive first admission patients with a DSM-III-R diagnosis of schizophrenia, schizoaffective disorder, or schizophreniform disorder were compared with 100 randomly selected community controls. Childhood histories of physical, medical, and perinatal trauma, as well as physical and cognitive development, were examined by structured interviews with all available mothers of patients and controls. The prevalence of specific psychiatric disorders and several medical illnesses among first degree and more distant relatives was determined by family history questionnaires. The patient group did not have an excess of childhood head injuries, serious infections, or perinatal/birth complications compared with controls. With social class level taken into account, it was found that the acquisition of reading skills occurred significantly later in patients than controls. Family histories of schizophrenia and thyroid disorders were significantly more frequent among patients than controls. These data fail to indicate any childhood physical or medical environmental trauma that could lead to an increased risk for schizophrenia, although patients were substance abusers to a greater extent than controls. This study also confirms the already known contribution of familial factors and suggests an association of the inheritance of thyroid disorders with schizophrenia. Delayed development of reading skills suggests that precursers of illness may appear early in life before psychosis is evident.
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PMID:Familial thyroid disease and delayed language development in first admission patients with schizophrenia. 194 33

Chromosomal analyses were performed on 302 individuals, using QFQ banding techniques to determine the occurrence of heteromorphism of chromosome 4. Two type of heteromorphism were observed, one showing an intensely fluorescent band in the centromere region and the other an intensely fluorescent band in the proximal area of the short arm. No one individual possessed both type of heteromorphism. A higher frequency of chromosome 4 heteromorphism was found in patients with schizophrenia, mental retardation, hyperactivity, developmental delay and speech impediments than in normal individuals.
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PMID:Polymorphism in chromosome 4. 617 Apr 84

102 children whose histories included a diagnosis of infantile autism or childhood schizophrenia were followed longitudinally to assess cognitive developmental trends. Despite some sample attrition, administration of a test battery of 5 language skill measures and 2 perception skill measures during 5 test periods over 4 years yielded 336 usable test batteries. After all tests had been administered, diagnosis of subjects for autism and schizophrenia using developmental histories and behavioral observations drawn at the time of first test-battery administration showed 111 test batteries on 33 children diagnosed as autistic, and 100 test batteries on 27 children diagnosed as schizophrenic. Comparisons of age and test score correlations, comparisons of cross-sequential means, and trends for means for diagnostic subgroups and normal controls suggest developmental delay for all skills at all ages for both autistic and schizophrenic children. Findings also suggest a trend for steady prepubertal cognitive skill development, followed by a postpubertal decline in skills for both diagnostic groups.
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PMID:Developmental trends in cognitive skills for children diagnosed as autistic and schizophrenic. 670 25

We have examined 23 families multiply affected with schizophrenia for linkage to the FMR-1 gene on the X chromosome. Alleles at the FMR-1 CGG triplet repeat were analysed by the polymerase chain reaction, and methylation status at the FMR-1 locus in individuals with evidence of expanded or unstable repeats was analysed by Southern hybridization. Two-point LOD score analyses with a range of X-linked single gene models and a non-parametric affected sib-pair method revealed no evidence for linkage. In one family, however, a fragile X premutation was found, and one individual with schizophrenia and developmental delay was a mosaic for the full and premutation. We conclude that although mutations within the FMR-1 gene do not have a major aetiological role in schizophrenia in our collection of pedigrees, it is possible that FMR-1 mutations can modify the clinical phenotype of schizophrenia.
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PMID:Linkage analysis of the fragile X gene FMR-1 and schizophrenia: no evidence for linkage but report of a family with schizophrenia and an unstable triplet repeat. 884 Mar 94

The deletion of a gene or genes on chromosome 22q11 is responsible for the velocardiofacial syndrome (VCFS), which is associated with cardiac anomalies, short stature, palate abnormalities, learning disabilities, and developmental delay. Herein we describe a 30-year-old man with VCFS in whom a chronic psychotic disorder originated during childhood. A 10% rate of psychotic disorders has been reported in association with this genetic syndrome. In our patient, the clinical manifestation was complicated by extrapyramidal symptoms that predated the onset of psychotic symptoms. To our knowledge, extrapyramidal symptoms have not previously been reported in a patient with VCFS. The diagnosis of VCFS was confirmed with the fluorescence in situ hybridization probe for VCFS. The role of the atypical antipsychotic drug clozapine is discussed with respect to treating this patient who has severe psychotic symptoms coexisting with extrapyramidal symptoms and seizures. In light of the observation that patients with VCFS have an unexpectedly high rate of psychotic disorders, issues concerning the genetics of schizophrenia are intriguing.
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PMID:Childhood-onset schizophrenia associated with parkinsonism in a patient with a microdeletion of chromosome 22. 978 44

Schizophrenia is likely to be caused by several susceptibility genes and may have environmental factors that interact with susceptibility genes and/or nongenetic causes. Recent evidence supports the likelihood that 22q11 Deletion Syndrome (22qDS) represents an identifiable genetic subtype of schizophrenia. 22qDS is an under-recognized genetic syndrome associated with microdeletions on chromosome 22 and a variable expression that often includes mild congenital dysmorphic features, hypernasal speech, and learning difficulties. Initial evidence indicates that a minority of patients with schizophrenia (approximately 2%) may have 22qDS and that prevalence may be somewhat higher in subpopulations with developmental delay. This paper proposes clinical criteria (including facial features, learning disabilities, hypernasal speech, congenital heart defects and other congenital anomalies) to aid in identifying patients with schizophrenia who may have this subtype and outlines features that may increase the index of suspicion for this syndrome. Although no specific causal gene or genes have yet been identified in the deletion region, 22qDS may represent a more homogeneous subtype of schizophrenia. This subtype may serve as a model for neurodevelopmental origins of schizophrenia that could aid in delineating etiologic and pathogenetic mechanisms.
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PMID:22q11 deletion syndrome: a genetic subtype of schizophrenia. 1050 69

We present a mother and her son, both carrying a deletion of chromosome 22q.11.2. They manifest clinical heterogeneity. The mother has schizophrenia, an IQ of 70. Tetralogy of Fallot, a hypernasal voice, but does not have the characteristic facies. Her son has mild psychomotor developmental delay. Tetralogy of Fallot and mild facial features characteristic of VCFS.
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PMID:Familial deletion of 22q11.2. 1054 7

Pica has rarely been reported in patients with geriatric mental illness. The authors describe 3 male patients with pica in the geriatric unit of a state mental hospital. Two of these patients had a diagnosis of developmental delay with concomitant diagnoses of schizophrenia and schizoaffective disorder, respectively. The third patient was diagnosed with paranoid schizophrenia. In all 3 cases, pica started late in life and was unrelenting and unresponsive to psychotropic medications, with limited to no response to behavioral interventions. In the 2 patients who died, pica was implicated as the direct cause of death in 1 and the likely cause of death in the other. When pica occurs in elderly patients with mental illness, the risk of mortality should be taken into account in clinical management.
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PMID:Pica in the geriatric mentally ill: unrelenting and potentially fatal. 1296 64

Chromosome anomalies are responsible for a significant proportion of patients with mental retardation, and congenital anomalies. Development of new molecular cytogenetic techniques has provided a powerful tool for detection of patients with subtle chromosome abnormalities. Particularly, investigation of the gene-rich subtelomeric regions has generated interest regarding the implications and prevalence of cryptic chromosomal rearrangements. Here we describe an adult with a submicroscopic deletion of 18pter, detected by subtelomeric FISH probe. The patient is a 42-year-old man with a history of developmental delay, moderate mental retardation, and symptoms of paranoid schizophrenia since adolescence. His physical examination is remarkable for only a few dysmorphic findings typically seen in 18p- syndrome (round face, hypertelorism, down-slanted palpebral fissures, temporal narrowing, small hands and feet). He lacks significant short stature, skin changes, and associated anomalies involving internal organs. All known patients with deletions of the short arm of chromosome 18 have either loss of large parts of 18p or of the entire p-arm, or have complex chromosomal rearrangement involving other chromosomes. To our knowledge, this is the first description of a cryptic subtelomeric deletion of 18p and the first case of such a chromosomal anomaly in a patient with schizophrenia. Small subtelomeric chromosomal deletions would be missed by standard G-banded karyotyping. Therefore, FISH analysis using subtelomeric probes should be considered for diagnostic evaluation of patients with psychiatric symptoms and mental retardation in whom the karyotype is normal.
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PMID:Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation. 1470 8

This is the first report of data analyses from a consortium of longitudinal genetic-risk studies on offspring of schizophrenic parents (CLOSSER) who were followed from birth or mid-childhood to their early 20's or considerably older ages. Three of the CLOSSER studies provide data to enable us to address long-persisting questions in the schizophrenia literature concerning possible atypicality of hand dominance associated with the illness. Handedness, used as a proxy for cerebral lateralization, is a topic of considerable importance because of its potential to reveal mechanisms in the underlying pathophysiology of schizophrenia. We examine agreement among the CLOSSER studies with respect to possible deviance in handedness in subjects with schizophrenic parents (high-risk individuals) and specifically in those who have gone on to develop adult schizophrenia, compared with other subjects of these studies. Possible developmental delay in age at lateralization is also considered.
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PMID:Handedness in children of schizophrenic parents: data from three high-risk studies. 1586 50


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