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- Mohammad, Salahuddin
(författare)
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Investigating mental health disorders in relation to job and living related factors
- 2023
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Licentiatavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Job satisfaction plays an important role for life quality and health of working individuals. While studies have shown that self-reported mental health conditions such as stress, anxiety and depression are associated with job satisfaction, a large population-based study exploring and comparing self-reported physician posed diagnosed conditions and their association with job satisfaction and job tenure is missing. First study addresses the gap along with exploring the impact of the neurotic personality trait and other possible contributing factors.Individuals with autism spectrum disorder (ASD) experience lower well-being as demonstrated epidemiologically mostly for children and adolescents. Further etiological investigation of inclusive wellbeing, in terms of five wellbeing spectrum (5-WBS) traits including neuroticism, depression, loneliness, life satisfaction and positive affect, among adults with ASD may deepen the understanding. Seond study aims to investigate if a genetic predisposition for ASD is associated with 5-WBS traits using polygenic risk score (PRS) analysis.In the first study, sixteen mental health disorders diagnosed by physicians, categorized into four major groups were investigated in relation to employment status (108,711 participants) and in relation to job satisfaction and job tenure (34,808 participants). Analyses were performed using linear regression adjusted for age, sex, TDI, BMI, education, physical activity, work hours and neuroticism. In the second study, PRS for ASD were constructed in the UK Biobank (N = 337,423), based on the GWAS conducted by Psychiatric Genetics Consortium (18,381 cases, 27,969 comparisons) using PRSice-2. First study showed Neurotic & Stress Disorders, Eating Disorders and Other Mental Health Disorders were strongly associated with lower job satisfaction and shorter job tenure in both unadjusted and adjusted analyses. Neuroticism was strongly linked to job satisfaction but was not associated with job tenure. Second study showed, ASD PRS significantly predicted associations with all 5-WBS traits, showing a positive association with the negative WBS traits, neuroticism (max R2 = 0.04%, P < 1x10-4, AUC 0.51), depression (max R2 = 0.06%, P < 1x10-4, AUC 0.51), loneliness (max R2 = 0.04%, P < 1x10-4, AUC 0.51) and a negative association with the positive WBS traits, life satisfaction (max R2 = 0.08%, P < 1x10-4, AUC 0.56), positive affect (max R2 = 0.10%, P < 1x10-4, AUC 0.53).Findings of first study clarify the complex relationship of mental health with job satisfaction and job tenure which is very important to understand in designing measures to improve working life participation of individuals with mental health issues. The findings of second study suggest that adults carrying a high load of susceptible SNPs for ASD are more likely to show a decreased well-being.
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| 2. |
- Karamanis, Georgios
(författare)
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Gender dysphoria : Insights on etiology and outcomes
- 2023
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Licentiatavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Gender Dysphoria (GD) is defined as significant distress or impairment caused by the discrepancy between an individual's experienced gender and the sex assigned at birth. This work explores the etiology and outcomes of GD through two studies. The first assesses its prevalence in different twin categories, and the second examines the incidence of idiopathic intracranial hypertension (IIH) in individuals undergoing gonadotropin-releasing hormone analogue (GnRHa) treatment for GD.The first study utilizes a population-based approach to analyze the prevalence of GD in twins, using data from a Swedish population-based cohort collected over a 16-year period. The objective is to assess the influence of genetic and environmental factors on the development of GD by comparing its prevalence in different-sex twins, same-sex twins, and non-twin siblings. The results indicate a higher prevalence of GD in different-sex twins and suggest a potential influence of intrauterine factors in the development of GD, necessitating further examination of current genetic and environmental theories.The second study focuses on evaluating the occurrence of IIH in individuals undergoing treatment with GnRHa for GD in Sweden between 2006 and 2016. The study did not observe any cases of IIH within the studied cohort. While better-powered studies are needed to clarify any potential association between GnRHa and IIH, the study results do not present substantial evidence to support this association.
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| 3. |
- Johansson, Annica, 1969
(författare)
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Susceptibility Genes in Alzheimer’s Disease: Associations and Mechanisms
- 2004
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Licentiatavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Alzheimer’s disease (AD) is the most common form of dementia, followed by frontotemporal dementia (FTD), in the elderly. It is a genetically heterogeneous disease characterized by progressive cognitive decline and memory impairment. In the rare early-onset familial form of the disease (FAD), causative mutations have been found in three different genes, the amyloid precursor protein (APP) gene and the presenilins 1 and 2 (PSEN-1 and -2). The predominant late-onset form of AD (LOAD) is a genetically complex disorder probably involving a combination of genetic factors together with environmental influences. To date, the only genetic risk factor identified for this complex form of AD is the APOE-ε4 allele. This only account for a fraction of all AD cases, thus several susceptibility genes remain to be found. The overall aim of this thesis is to study potential candidate genes for AD and FTD, and to see how variants of these genes influence quantitative traits related to AD pathology, both in cerebrospinal fluid (CSF), and in brain tissue. In the initial investigation, a polymorphism designated Ex6+7I/D in the cell division cycle (CDC2) gene was identified. Cdc2 is a protein kinase involved in cell cycle regulation and in neuronal differentiation. In AD brain, cdc2 is expressed in neurons and is involved in the abnormal phosphorylation of tau. The polymorphism was tested for association with LOAD. A significant association between the Ex6+7II genotype and AD was found, and also an increased frequency of the Ex6+7I allele in both AD and FTD. In the second paper, variants of CYP46A1, encoding cholesterol 24-hydroxylase (CYP46), were investigated for their association with AD. The polymorphisms were tested for association with quantitative traits related to AD pathology, including cerebrospinal fluid (CSF) levels of the 42 amino-acid cleavage product of β-amyloid (β-amyloid1-42), and the tau protein. In stratified analyses, one of the polymorphisms (rs754203) significantly influenced both CSF β-amyloid1-42 and phospho-tau in elderly APOE-ε4 carriers. In the final paper, AD and FTD patients were genotyped for a polymorphism in the Saitohin (STH) gene, a previously described gene located in the intron of the human Tau gene. Numerous polymorphisms span the human tau gene and are in complete linkage disequilibrium with each other yielding two separate haplotypes, termed H1 and H2. The H1 haplotype has been associated with both AD and FTD, and our patients were also investigated for this haplotype. In all patients (AD and FTD) and controls, the STH polymorphism and the Tau haplotype were in complete disequilibrium. The Tau haplotype and STH were not associated with AD and FTD, neither did they influence CSF-levels of total-tau, phospho-tau and β-amyloid1-42, nor neuropathological scores of plaque and tangles in brain tissue.
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| 5. |
- Engqvist, Ulf
(författare)
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Om samarbetet mellan barn- och ungdomspsykiatri och vuxenpsykiatri : Personalens kompetens och patienternas behov
- 2002
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Licentiatavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Avhandlingen behandlar gränsområdet mellan barn- och ungdomspsykiatri och vuxenpsykiatri. Syfte: att beskriva hur det går för barn- och ungdomspsykiatrins patienter, vilken den patientgrupp är som blir gemensam för de båda disciplinerna och vad som krävs för att utveckla samarbetet för äldre tonåringar/unga vuxna i åldrarna 16-25 år. Metod: Journal och registerstudie. Enkätundersökning riktad till personalgrupperna inom de två psykiatriska disciplinerna. Resultat: 25 patienter, 1,8 procent avled, majoriteten på grund av självmord. Drygt var 4:e tidigare BUP-patient och nästan dubbelt så många kvinnor som män (1,7:1), har sökt vuxenpsykiatrisk kontakt efter den barn- och ungdomspsykiatriska vården. En tredjedel av de tidigare BUP-patienterna var kända i kriminalregistret. Elva personer, 0,8 procent hade utvecklat så allvarligt missbruk att LVM-vård hade skett. Resultaten av enkätundersökningen tyder på att det inom vuxenpsykiatrisk verksamhet finns brister när det gäller barn- och ungdoms kunskap i allmänhet och att det finns skillnader i syn- och arbetssätt mellan disciplinerna. Övergången för patienter från barn- och ungdomspsykiatrin till vuxenpsykiatrin sågs som ett problem av båda personalgrupperna.
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| 7. |
- Nisell, Margret
(författare)
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Psychosocial consequences of high and intermediate imperforate anus
- 2005
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Licentiatavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Imperforate anus including lack of a normal anorectum is an uncommon malformation. The parents of children born with high and intermediate imperforate anus have to take a big responsibility for the follow-up treatment. It has been revealed that children with imperforate anus have psychosocial problems, though knowledge of this is limited.Aim: The overall aim of this thesis was to explore psychosocial consequences on children with high and intermediate imperforate anus and their parents.Methods: In Paper I, the purpose was to illuminate the children s and parents experiences of imperforate anus and to create a baseline for further research. Interviews were done with three patients with high imperforate anus who had had severe problems with the malformation, and with their parents (5). Answers to the open-ended questions were analyzed with a qualitative method, editing analysis style . In Paper II and Paper III, study-specific questionnaires were used to collect data from 25 children (8-13 years old) with high and intermediate imperforate anus, and from their parents. The questionnaires comprised 59 items for the parents and 45 items for the children, covering psychosocial domains, one physical domain and one domain on experiences of hospital care. The parents filled in the Child Behavior Checklist (CBCL), and the children s teachers filled in the Teacher s Report Form (TRF). Two groups of children along with their parents served as comparison groups. They included 30 children with juvenile chronic arthritis and 32 healthy children.Results: Paper I: The parents were outspoken in the interviews, and the children s answers were meagre. Four categories of effects of the malformation were revealed: physical, emotional, social, and family. The emotional effects permeated the interviews; the parents suffering was overwhelming. In Paper II, the children with imperforate anus displayed an overall positive attitude; they reported that they were in a good mood, that they liked school, and that they had good relationships with peers. Furthermore, the children had fecal incontinence and constipation, according to parents. In the CBCL, the children in the index group were assessed to have significantly more emotional/behavioral problems than the children in Comparison Group I. In the TRF, the teachers reported few symptoms for the index group children. Paper III showed disagreement on psychosocial variables from children with imperforate anus and their mothers (on a pair level). Differences were found in particular on psychological variables, i.e. the child s emotional life. The competence scales in the CBCL revealed no differences between the index group and the other two groups. In the TRF, the teachers assessed the children with imperforate anus to be less adapted and adjusted in school than the children in comparison groups.Conclusions: Parents of children with high imperforate anus have to go through difficult experiences associated with the malformation. Children with imperforate anus in this study seem to be well adjusted psychosocially, despite fecal incontinence and/or constipation. The children might have some psychosocial difficulties, though informants do not agree. It is vital to assess the children s psychosocial function from more than a single informant. Psychosocial issues are crucial to children with imperforate anus and to their parents, and qualified advice and assistance should be a central part of their continuing care. Perhaps collaboration with expertise from child and adolescent psychiatry may be required.
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