Childhood-Onset Schizophrenia: A Systematic Overview of Its Genetic Heterogeneity From Classical Studies to the Genomic Era

Fernandez, Arnaud; Drozd, Małgorzata; Thümmler, Susanne; Dor, E.; Capovilla, Maria; Askénazy, Florence; Bardoni, Barbara

doi:10.3389/fgene.2019.01137

Cited by 30 publications

(23 citation statements)

References 91 publications

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“…The possible role of the product of gene loci associated with a higher risk of developing primary psychosis are described in Table 1 [17,18,22,42,43]. Genes were grouped according to the main function of their product.…”

Section: Sociodemographic Risk Factorsmentioning

confidence: 99%

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Primary Psychosis: Risk and Protective Factors and Early Detection of the Onset

et al. 2021

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Primary psychosis, which includes schizophrenia and other psychoses not caused by other psychic or physical conditions, has a strong impact worldwide in terms of disability, suffering and costs. Consequently, improvement of strategies to reduce the incidence and to improve the prognosis of this disorder is a current need. The purpose of this work is to review the current scientific literature on the main risk and protective factors of primary psychosis and to examine the main models of prevention, especially those related to the early detection of the onset. The conditions more strongly associated with primary psychosis are socio-demographic and economic factors such as male gender, birth in winter, ethnic minority, immigrant status, and difficult socio-economic conditions while the best-established preventive factors are elevated socio-economic status and an economic well-being. Risk and protective factors may be the targets for primordial, primary, and secondary preventive strategies. Acting on modifiable factors may reduce the incidence of the disorder or postpone its onset, while an early detection of the new cases enables a prompt treatment and a consequential better prognosis. According to this evidence, the study of the determinants of primary psychosis has a pivotal role in designing and promoting preventive policies aimed at reducing the burden of disability and suffering of the disorder.

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Section: Sociodemographic Risk Factorsmentioning

confidence: 99%

“…The genes presented are among the most studied and reported in different meta-analyses or systematic reviews [17,18,22,42,43]. To facilitate consultation of the table, we have divided these genes in relation to their structure, localization, and main function (first column).…”

Section: Altered By Neuroinflammationmentioning

confidence: 99%

Primary Psychosis: Risk and Protective Factors and Early Detection of the Onset

et al. 2021

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“…These findings could suggest that adult-onset psychotic disorder is more associated with PUFA abnormalities than early-onset psychosis. Early-onset psychosis may differ from adult-onset illness in terms of genetic liability and neurodevelopmental trajectory 54 , 55 , but whether or how these differences relate to PUFA status is unclear and will require further evaluation in future studies. Longitudinally, higher levels of DHA at age 17 were associated with lower odds of psychotic disorder at age 24.…”

Section: Discussionmentioning

confidence: 99%

Plasma polyunsaturated fatty acids and mental disorders in adolescence and early adulthood: cross-sectional and longitudinal associations in a general population cohort

et al. 2021

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Polyunsaturated fatty acids (PUFAs) may be pertinent to the development of mental disorders, for example via modulation of inflammation and synaptogenesis. We wished to examine cross-sectional and longitudinal associations between PUFAs and mental disorders in a large cohort of young people. Participants in the Avon Longitudinal Study of Parents and Children were interviewed and provided blood samples at two sampling periods when approximately 17 and 24 years old. Plasma PUFA measures (total omega-6 [n-6], total omega-3 [n-3], n-6:n-3 ratio and docosahexaenoic acid [DHA] percentage of total fatty acids) were assessed using nuclear magnetic resonance spectroscopy. Cross-sectional and longitudinal associations between standardised PUFA measures and three mental disorders (psychotic disorder, moderate/severe depressive disorder and generalised anxiety disorder [GAD]) were measured by logistic regression, adjusting for age, sex, body mass index and cigarette smoking. There was little evidence of cross-sectional associations between PUFA measures and mental disorders at age 17. At age 24, the n-6:n-3 ratio was positively associated with psychotic disorder, depressive disorder and GAD, while DHA was inversely associated with psychotic disorder. In longitudinal analyses, there was evidence of an inverse association between DHA at age 17 and incident psychotic disorder at age 24 (adjusted odds ratio 0.44, 95% confidence interval 0.22–0.87) with little such evidence for depressive disorder or GAD. There was little evidence for associations between change in PUFA measures from 17 to 24 years and incident mental disorders at 24 years. These findings provide support for associations between PUFAs and mental disorders in early adulthood, and in particular, for DHA in adolescence in relation to prevention of psychosis.

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“…RDP and alternating hemiplegia of childhood (AHC) are the 2 most widely reported ATP1A3 -related diseases. ATP1A3 mutations have also been reported to be associated with cerebellar ataxia, areflexia, pes caves, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome [2], early infantile epileptic encephalopathy (EIEE) [8], relapsing encephalopathy with cerebellar ataxia (RECA) [9], fever-induced paroxysmal weakness and encephalopathy (FIPWE) [10], autistic spectrum disorders (ASD) [11], and schizophrenia [12], which further expand the phenotypic spectrums associated with mutations in the ATP1A3 gene.…”

Section: Discussionmentioning

confidence: 99%

The Expanding Phenotypic Spectrums Associated with ATP1A3 Mutation in a Family with Rapid-Onset Dystonia Parkinsonism

et al. 2020

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Introduction: Rapid-onset dystonia parkinsonism (RDP), also referred to as Dystonia 12, is a rare autosomal dominant genetic disease characterized by abrupt onset of a rostrocaudal gradient of dystonia with prominent bulbar symptoms, and parkinsonian features, primarily bradykinesia and postural instability without tremor. The purpose of this study was to identify the genetic defect in a Chinese pedigree with familial RDP and to explore genotype-phenotype correlation. Methods: A 3-generation Chinese Han pedigree consisting of 9 members and 3 patients with RDP, and 200 unrelated ethnically matched normal subjects were recruited in this study. Exome sequencing was performed in the proband, and Sanger sequencing was then conducted in other family members and 200 normal controls. Results: In addition to the typical clinical manifestations of RDP, the proband and her sister presented tongue tremor which developed at the onset, and intriguingly the proband showed a “re-emergent” tongue tremor. Both the proband and her sister had a medical history of hyperthyroidism, and at the psychiatric interview they both received diagnoses of depression and anxiety. Excessive grammar errors existed in most sentences written by the proband, and this written-expression disorder occurred years before the onset of RDP. The mother of the proband presented tongue enlargement, oromandibular dystonia, and limb dystonia, which were not observed in her 2 daughters at the time of study. A missense variant, c.1838C>T (p.T613M), in the ATP1A3 gene, was identified in the 3 patients in the family and in 2 young children but was absent in family members without RDP and in the 200 normal controls. Conclusion: These findings may broaden the phenotypic spectrums of RDP with mutations in the ATP1A3 gene, provide new insights into the diagnosis of RDP, and have implications for genetic counseling.

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Childhood-Onset Schizophrenia: A Systematic Overview of Its Genetic Heterogeneity From Classical Studies to the Genomic Era

Cited by 30 publications

References 91 publications

Primary Psychosis: Risk and Protective Factors and Early Detection of the Onset

Primary Psychosis: Risk and Protective Factors and Early Detection of the Onset

Plasma polyunsaturated fatty acids and mental disorders in adolescence and early adulthood: cross-sectional and longitudinal associations in a general population cohort

The Expanding Phenotypic Spectrums Associated with <b><i>ATP1A3</i></b> Mutation in a Family with Rapid-Onset Dystonia Parkinsonism

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