The involvement of genetic factors in the etiology of autism has been clearly established. We undertook a genome-wide search for regions containing susceptibility genes for autism in 12 subjects with childhood autism and related pervasive developmental disorders (PDDs) and 44 controls from the relatively isolated population of the Faroe Islands. In total, 601 microsatellite markers distributed throughout the human genome with an average distance of 5.80 cM were genotyped, including 502 markers in the initial scan. The Faroese population structure and genetic relatedness of cases and controls were also evaluated. Based on a combined approach, including an assumption-free test as implemented in CLUMP, Fisher's exact test for specific alleles and haplotypes, and IBD 0 probability calculations, we found association between autism and microsatellite markers in regions on 2q, 3p, 6q, 15q, 16p, and 18q. The most significant finding was on 3p25.3 (P T1 ¼ 0.00003 and P T4 ¼ 0.00007), which was also supported by other genetic studies. Furthermore, no evidence of population substructure was found, and a higher degree of relatedness among cases could not be detected, decreasing the risk of inflated P-values. Our data suggest that markers in these regions are in linkage disequilibrium with genes involved in the etiology of autism, and we hypothesize susceptibility genes for autism and related PDDs to be localized within these regions.
Introduction: The WHO has proposed posttraumatic stress (PTSD) and Complex PTSD (CPTSD) trauma-related ‘sibling’-disorders in ICD-11. The proposal has received support from research among clinical and community samples alike but only few studies have tested the validity of these disorders in a sample of refugees using the International Trauma Questionnaire especially designed for assessment of ICD-11 PTSD and CPTSD. Methods: Latent class analysis was used to test the validity of the ICD-11 PTSD and CPTSD distinction in a heterogeneous group of 284 highly symptomatic refugees registered for treatment at a Danish treatment-center. Results: A two-class solution fit the data best. One group reported elevated levels of PTSD-symptoms and symptoms of affective dysregulation, and one group reported elevated levels of symptoms corresponding to CPTSD. The CPTSD group was considerably larger than the PTSD-group. Discussion: The current study supports the ICD-11 distinction between PTSD and CPTSD in a sample of treatment-seeking refugees. The assistance of interpreters was needed for some of the participants which affected the reliability of the assessment. Conclusion: The ICD-11 proposal for PTSD and CPTSD is supported in a heterogenous sample of refugees using the ITQ.
Background:The 11 th version of the International Classification of Diseases (ICD-11) revised the diagnosis of Posttraumatic Stress Disorder (PTSD) and introduced Complex PTSD as a sibling disorder to PTSD. As the Danish Health Authorities will implement the ICD-11 in 2022, it is more relevant than ever to introduce a measure that enables the identification of ICD-11 PTSD and CPTSD. Objective: The primary aim of the present study was to test the construct validity of the ICD-11 conceptualization of PTSD and DSO in five clinical samples using translated versions of the International Trauma Questionnaire (ITQ). Method: Data from existing studies of adult survivors of sexual abuse (n = 385), women in shelters (n = 147), psychiatric outpatients endorsing an ICD-10 diagnosis of PTSD (n = 111), a heterogenous sample of psychiatric outpatients (n = 178) and refugees and torture survivors (n = 385) was used for the current study. Confirmatory factor analyses were conducted to test the internal structure of the ITQ, and regression models were conducted to test the convergent and discriminant validity of the factor solutions for each sample. Results: Findings supported the ICD-11 formulation of PTSD and disorders in selforganization (DSO) as a representation of the latent structure of the ITQ across five Danish clinical samples. Uniquely for women in shelters, however, the model displayed an unacceptable fit. A revised operationalization of re-experiencing proved a better fit when 'recurrent nightmares' was exchanged with symptoms of intense emotional reactions to reminders of the trauma for women in shelter as well as ICD-10 PTSD psychiatric outpatients. Conclusion:This study supports the use of a Danish translated version of the ITQ to assess symptoms of ICD-11 PTSD and DSO for the introduction of ICD-11 in 2022. Future research is needed to further explore the operationalization of re-experiencing across different trauma exposed populations. Validación del tept y DSO de la CIE-11 usando el cuestionario internacional de trauma en cinco muestras clínicas reclutadas en DinamarcaAntecedentes: La décimo primera versión de la Clasificación Internacional de Enfermedades (CIE-11) revisó el diagnóstico de Trastorno de Estrés Postraumático (CIE-11) e introdujo el TEPT complejo como un diagnóstico hermano del TEPT. Como las autoridades de salud danesas implementarán la CIE-11 en el 2022, es más relevante que nunca introducir una medición que permita la identificación del TEPT y el TEPT complejo de acuerdo a la CIE-11. Objetivo: El principal objetivo del presente estudio fue probar la validez del constructo diagnóstico de la conceptualización del TEPT y de las Alteraciones en la Auto-Organización (DSO por sus siglas en inglés) en cinco muestras clínicas usando versiones traducidas del Cuestionario Internacional de Trauma (ITQ por sus siglas en inglés). Método: Se usaron para el presente estudio, datos de estudios ya existentes de sobrevivientes adultos de abuso sexual (n = 147), pacientes psiquiátricos ambulatorios con diagnóstico ...
Chromosome 22q may harbor risk genes for schizophrenia and bipolar affective disorder. This is evidenced through genetic mapping studies, investigations of cytogenetic abnormalities, and direct examination of candidate genes. Patients with schizophrenia and bipolar affective disorder from the Faroe Islands were typed for 35 evenly distributed polymorphic markers on 22q in a search for shared risk genes in the two disorders. No single marker was strongly associated with either disease, but five two-marker segments that cluster within two regions on the chromosome have haplotypes occurring with different frequencies in patients compared to controls. Two segments were of most interest when the results of the association tests were combined with the probabilities of identity by descent of single haplotypes. For bipolar patients, the strongest evidence for a candidate region harboring a risk gene was found at a segment of at least 1.1 cM including markers D22S1161 and D22S922 (P=0.0081 in the test for association). Our results also support the a priori evidence of a susceptibility gene to schizophrenia at a segment of at least 0.45 cM including markers D22S279 and D22S276 (P=0.0075). Patients were tested for the presence of a missense mutation in the WKL1 gene encoding a putative cation channel close to segment D22S1161--D22S922, which has been associated with schizophrenia. We did not find this mutation in schizophrenic or bipolar patients or the controls from the Faroe Islands.
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