scholarly journals CNVs and Chromosomal Aneuploidy in Patients With Early-Onset Schizophrenia and Bipolar Disorder: Genotype-Phenotype Associations

2021 ◽  
Vol 11 ◽  
Author(s):  
Hojka Gregoric Kumperscak ◽  
Danijela Krgovic ◽  
Maja Drobnic Radobuljac ◽  
Nina Senica ◽  
Andreja Zagorac ◽  
...  

Introduction: Early-onset schizophrenia (EOS) and bipolar disorder (EOB) start before the age of 18 years and have a more severe clinical course, a worse prognosis, and a greater genetic loading compared to the late-onset forms. Copy number variations (CNVs) are an important genetic factor in the etiology of psychiatric disorders. Therefore, this study aimed to analyze CNVs in patients with EOS and EOB and to establish genotype-phenotype relationships for contiguous gene syndromes or genes affected by identified CNVs.Methods: Molecular karyotyping was performed in 45 patients, 38 with EOS and seven with EOB hospitalized between 2010 and 2017. The exclusion criteria were medical or neurological disorders or IQ under 70. Detected CNVs were analyzed according to the standards and guidelines of the American College of Medical Genetics.Result: Molecular karyotyping showed CNVs in four patients with EOS (encompassing the PAK2, ADAMTS3, and ADAMTSL1 genes, and the 16p11.2 microduplication syndrome) and in two patients with EOB (encompassing the ARHGAP11B and PRODH genes). In one patient with EOB, a chromosomal aneuploidy 47, XYY was found.Discussion: Our study is the first study of CNVs in EOS and EOB patients in Slovenia. Our findings support the association of the PAK2, ARHGAP11B, and PRODH genes with schizophrenia and/or bipolar disorder. To our knowledge, this is also the first report of a multiplication of the ADAMTSL1 gene and the smallest deletion of the PAK2 gene in a patient with EOS, and one of the few reports of the 47, XYY karyotype in a patient with EOB.

2003 ◽  
Vol 15 (1) ◽  
pp. 69-72 ◽  
Author(s):  
Yesne Alici-Evcimen ◽  
Turan Ertan ◽  
Engin Eker

In this article we report the first series of Turkish inpatients with late-onset psychosis, and describe our 9-year experience at the only inpatient geriatric psychiatry department in Turkey. Among 420 patients hospitalized between 1993 and 2002, 27 were psychotic. In this group, eight patients were diagnosed as having late-onset schizophrenia (LOS) and six very-late-onset schizophrenia-like psychosis (VLOSLP). Five patients had early-onset schizophrenia and eight had delusional disorder. Females were more frequently seen in the group with LOS and the group with VLOSLP. Except for one patient with LOS, all patients with VLOSLP and LOS had paranoid psychosis. Nihilistic delusions, delusions of poverty or guilt, thought withdrawal, thought insertion, and thought broadcasting were not seen in any of the patients. Additionally, none of the LOS or VLOSLP patients showed erotomanic delusions. Grandiose and mystic delusions were not seen in those with VLOSLP. Treatment results and antipsychotic dosages at discharge were similar to those in previous reports from other cultures.


2017 ◽  
Vol 41 (S1) ◽  
pp. S211-S211
Author(s):  
N. Smaoui ◽  
L. Zouari ◽  
N. Charfi ◽  
M. Maâlej-Bouali ◽  
N. Zouari ◽  
...  

IntroductionAge of onset of illness may be useful in explaining the heterogeneity among older bipolar patients.ObjectiveTo examine the relationship of age of onset with clinical, demographic and behavioral variables, in older patients with bipolar disorder.MethodsThis was a cross-sectional, descriptive and analytical study, including 24 patients suffering from bipolar disorders, aged 65 years or more and followed-up in outpatient psychiatry unit at Hedi Chaker university hospital in Sfax in Tunisia. We used a standardized questionnaire including socio-demographic, behavioral and clinical data. Age of onset was split at age 40 years into early-onset (< 40 years; n = 12) and late-onset (≥ 40 years; n = 12) groups.ResultsThe mean age for the entire sample was 68.95 years. The mean age of onset was 39.95 years. The majority (60%) of patients were diagnosed with bipolar I. Few meaningful differences emerged between early-onset and late-onset groups, except that tobacco use was significantly higher in the late-onset group (66.6% vs. 16.6%; P = 0.027). No significant differences between the early-onset and late-onset groups were seen on demographic variables, family history and number of medical diagnoses or presence of psychotic features.ConclusionOur study found few meaningful behavioral differences between early versus late age at onset in older adults with bipolar disorder.Disclosure of interestThe authors have not supplied their declaration of competing interest.


Author(s):  
Paul Rivkin ◽  
Michael Kraut ◽  
Patrick Barta ◽  
James Anthony ◽  
Amelia M Arria ◽  
...  

2021 ◽  
pp. 1-6
Author(s):  
Akira Monji ◽  
Yoshito Mizoguchi

Schizophrenia develops mainly in adolescence, but late-onset schizophrenia (LOS) is not uncommon. According to the international consensus, schizophrenia which develops over 40 years old is called LOS and psychosis which develops over 60 years old is called very late-onset schizophrenia-like psychosis (VLOS). Compared to early-onset schizophrenia (EOS) that develops before the age of 40 years, LOS and VLOS are reported to be more common in women, and there are clinically clear differences such as less involvement of genetic factors than EOS. This review outlines the abnormalities of the neuroimmune system in the pathophysiology of LOS, especially focusing on the role of microglia.


2020 ◽  
Vol LII (1) ◽  
pp. 34-37
Author(s):  
Ekaterina G. Abdullina ◽  
Mariya A. Savina ◽  
Georgij E. Rupchev ◽  
Margarita A. Morozova ◽  
Valeriya V. Pochueva ◽  
...  

Aim. To evaluate cognitive functions and independent living skills in patients with late-onset schizophrenia (LOS) compared to patients with early-onset schizophrenia (EOS). Methods. The study included two clinical groups: 8 EOS patients (M=51.37.2; 7 males) and 8 LOS patients (M=67.89.9; 8 females), with comparable illness duration (22.69.1 and 19.911.9 respectively). Cognitive functions were assessed through the Brief Assessment of Cognition in Schizophrenia (BACS). The Autonomy Assessment Scale (AS) was used to measure independent living skills. The MannWhitney U-test was applied to determine differences between groups. Results. LOS group performed significantly better on Digit Sequencing Task, Verbal Fluency and Tower Test of the BACS. Composite score on AS was also significantly better in LOS group along with better scores on AS`s subscales assessing primarily social skills. Conclusion. LOS patients have milder cognitive dysfunction along with better independent living and social skills compared to AOS patients.


1990 ◽  
Vol 147 (10) ◽  
pp. 1382-b-1383
Author(s):  
RAYMOND LEVY

2002 ◽  
Vol 14 (3) ◽  
pp. 311-322 ◽  
Author(s):  
Osvaldo P. Almeida ◽  
Stephen Fenner

Background: Recent reports have suggested that bipolar disorder beginning in late life is strongly associated with organic brain disease whereas early-onset cases are more likely to be associated with a family history of mood disorder. It is not yet clear whether late-onset bipolar disorder is therefore a “phenocopy” of the classic early-onset disorder, sharing symptoms but having a different etiology, or whether people with early- and late-onset bipolar disorder have a common underlying vulnerability that interacts with age-specific triggering factors. Aim: The present study examines the administrative records of patients treated for bipolar disorder, to establish whether differences between early- and late-onset cases might be consistent with their having distinct etiological processes. Methods: We used a file containing administrative data for all patients with a diagnosis of bipolar disorder who were in contact with the health services of Western Australia between 1980 and 1998. For each contact with psychiatric services, the file provided the patient's age, gender, marital status, educational achievement, employment, ethnic origin, postcode of residence, primary and secondary diagnoses, and the duration of the (administrative) episode. Subjects were designated “late-onset” when their first contact with psychiatric services occurred at or after 65 years of age. Results: Between 1980 and 1998 there were 33,004 service contacts involving 6,182 individuals whose primary or secondary clinical diagnosis was bipolar disorder. This indicates that the prevalence of bipolar disorder in Western Australia is approximately 0.4%. Most patients had an onset of illness between 15 and 45 years of age, but 492 patients (8%) were aged 65 years or over at the time of first contact with mental health services. We observed that the relative frequency of late-onset bipolar disorder increased between 1980 and 1998 (1% to 11%). There was an excess of women in our cohort (3:2), but no difference in the age of onset between males and females. Early onset was associated with a subsequently lower socioeconomic status, aboriginal ethnicity, and a higher frequency of mixed affective episodes, other mood disorders, schizophrenia, and schizoaffective disorder. Patients with late-onset bipolar disorder were more likely to have a diagnosis of organic mental disorder recorded (2.8% vs. 1.2%). There was no evidence of a bimodal pattern of age-specific incidence. Conclusion: The observed differences between early- and late-onset bipolar disorders are small and most likely attributable to differences in the duration of illness. Only a small proportion of patients with bipolar disorder were ever diagnosed with an organic mental disorder, which suggests that the reported association between late onset of illness and organic factors may be of limited clinical relevance.


2016 ◽  
Vol 43 (4) ◽  
pp. 67-73
Author(s):  
Telma Pantano ◽  
Lee Fu I ◽  
Eliana Curatolo ◽  
Camila Bertini Martins ◽  
Helio Elkis

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