Browsing by Subject "DISORDER"

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  • Weiss, Alexander; Baselmans, Bart M. L.; Hofer, Edith; Yang, Jingyun; Okbay, Aysu; Lind, Penelope A.; Miller, Mike B.; Nolte, Ilja M.; Zhao, Wei; Hagenaars, Saskia P.; Hottenga, Jouke-Jan; Matteson, Lindsay K.; Snieder, Harold; Faul, Jessica D.; Hartman, Catharina A.; Boyle, Patricia A.; Tiemeier, Henning; Mosing, Miriam A.; Pattie, Alison; Davies, Gail; Liewald, David C.; Schmidt, Reinhold; De Jager, Philip L.; Heath, Andrew C.; Jokela, Markus; Starr, John M.; Oldehinkel, Albertine J.; Johannesson, Magnus; Cesarini, David; Hofman, Albert; Harris, Sarah E.; Smith, Jennifer A.; Keltikangas-Järvinen, Liisa; Pulkki-Råback, Laura; Schmidt, Helena; Smith, Jacqui; Iacono, William G.; McGue, Matt; Bennett, David A.; Pedersen, Nancy L.; Magnusson, Patrik K. E.; Deary, Ian J.; Martin, Nicholas G.; Boomsma, Dorret I.; Bartels, Meike; Luciano, Michelle (2016)
    Approximately half of the variation in wellbeing measures overlaps with variation in personality traits. Studies of non-human primate pedigrees and human twins suggest that this is due to common genetic influences. We tested whether personality polygenic scores for the NEO Five-Factor Inventory (NEO-FFI) domains and for item response theory (IRT) derived extraversion and neuroticism scores predict variance in wellbeing measures. Polygenic scores were based on published genome-wide association (GWA) results in over 17,000 individuals for the NEO-FFI and in over 63,000 for the IRT extraversion and neuroticism traits. The NEO-FFI polygenic scores were used to predict life satisfaction in 7 cohorts, positive affect in 12 cohorts, and general wellbeing in 1 cohort (maximal N = 46,508). Meta-analysis of these results showed no significant association between NEO-FFI personality polygenic scores and the wellbeing measures. IRT extraversion and neuroticism polygenic scores were used to predict life satisfaction and positive affect in almost 37,000 individuals from UK Biobank. Significant positive associations (effect sizes
  • Wielaender, F.; James, F. M. K.; Cortez, M. A.; Kluger, G.; Nessler, J. N.; Tipold, A.; Lohi, H.; Fischer, A. (2018)
    Myoclonic epilepsy in Rhodesian Ridgeback (RR) dogs is characterized by myoclonic seizures occurring mainly during relaxation periods, a juvenile age of onset and generalized tonic-clonic seizures in one-third of patients. An 8-month-old female intact RR was presented for myoclonic seizures and staring episodes that both started at 10 weeks of age. Testing for the DIRAS1 variant indicated a homozygous mutant genotype. Unsedated wireless video-electroencephalography (EEG) identified frequent, bilaterally synchronous, generalized 4 Hz spike-and-wave complexes (SWC) during the staring episodes in addition to the characteristic myoclonic seizures with generalized 4-5 Hz SWC or 4-5 Hz slowing. Photic stimulation did not evoke a photoparoxysmal response. Repeat video-EEG 2 months after initiation of levetiracetam treatment disclosed a >95% decrease in frequency of myoclonic seizures, and absence seizures were no longer evident. Absence seizures represent another seizure type in juvenile myoclonic epilepsy (JME) in RR dogs, which reinforces its parallels to JME in humans.
  • Malanchini, Margherita; Smith-Woolley, Emily; Ayorech, Ziada; Rimfeld, Kaili; Krapohl, Eva; Vuoksimaa, Eero; Korhonen, Tellervo; Bartels, Meike; van Beijsterveldt, Toos C. E. M.; Rose, Richard J.; Lundstrom, Sebastian; Anckarsater, Henrik; Kaprio, Jaakko; Lichtenstein, Paul; Boomsma, Dorret I.; Plomin, Robert (2019)
    Background Maternal smoking during pregnancy (MSDP) has been linked to offspring's externalizing problems. It has been argued that socio-demographic factors (e.g. maternal age and education), co-occurring environmental risk factors, or pleiotropic genetic effects may account for the association between MSDP and later outcomes. This study provides a comprehensive investigation of the association between MSDP and a single harmonized component of externalizing: aggressive behaviour, measured throughout childhood and adolescence. Methods Data came from four prospective twin cohorts - Twins Early Development Study, Netherlands Twin Register, Childhood and Adolescent Twin Study of Sweden, and FinnTwin12 study - who collaborate in the EU-ACTION consortium. Data from 30 708 unrelated individuals were analysed. Based on item level data, a harmonized measure of aggression was created at ages 9-10; 12; 14-15 and 16-18. Results MSDP predicted aggression in childhood and adolescence. A meta-analysis across the four samples found the independent effect of MSDP to be 0.4% (r = 0.066), this remained consistent when analyses were performed separately by sex. All other perinatal factors combined explained 1.1% of the variance in aggression across all ages and samples (r = 0.112). Paternal smoking and aggressive parenting strategies did not account for the MSDP-aggression association, consistent with the hypothesis of a small direct link between MSDP and aggression. Conclusions Perinatal factors, including MSDP, account for a small portion of the variance in aggression in childhood and adolescence. Later experiences may play a greater role in shaping adolescents' aggressive behaviour.
  • Direk, Nese; Williams, Stephanie; Smith, Jennifer A.; Ripke, Stephan; Air, Tracy; Amare, Azmeraw T.; Amin, Najaf; Baune, Bernhard T.; Bennett, David A.; Blackwood, Douglas H. R.; Boomsma, Dorret; Breen, Gerome; Buttenschon, Henriette N.; Byrne, Enda M.; Borglum, Anders D.; Castelao, Enrique; Cichon, Sven; Clarke, Toni-Kim; Cornelis, Marilyn C.; Dannlowski, Udo; De Jager, Philip L.; Demirkan, Ayse; Domenici, Enrico; van Duijn, Cornelia M.; Dunn, Erin C.; Eriksson, Johan G.; Esko, Tonu; Faul, Jessica D.; Ferrucci, Luigi; Fornage, Myriam; de Geus, Eco; Gill, Michael; Gordon, Scott D.; Grabe, Hans Joergen; van Grootheest, Gerard; Hamilton, Steven P.; Hartman, Catharina A.; Heath, Andrew C.; Hek, Karin; Hofman, Albert; Homuth, Georg; Horn, Carsten; Hottenga, Jouke Jan; Kardia, Sharon L. R.; Kloiber, Stefan; Koenen, Karestan; Kutalik, Zoltan; Ladwig, Karl-Heinz; Lahti, Jari; Levinson, Douglas F.; Lewis, Cathryn M.; Lewis, Glyn; Li, Qingqin S.; Llewellyn, David J.; Lucae, Susanne; Lunetta, Kathryn L.; MacIntyre, Donald J.; Madden, Pamela; Martin, Nicholas G.; McIntosh, Andrew M.; Metspalu, Andres; Milaneschi, Yuri; Montgomery, Grant W.; Mors, Ole; Mosley, Thomas H.; Murabito, Joanne M.; Mueller-Myhsok, Bertram; Nothen, Markus M.; Nyholt, Dale R.; O'Donovan, Michael C.; Penninx, Brenda W.; Pergadia, Michele L.; Perlis, Roy; Potash, James B.; Preisig, Martin; Purcell, Shaun M.; Quiroz, Jorge A.; Raikkonen, Katri; Rice, John P.; Rietschel, Marcella; Rivera, Margarita; Schulze, Thomas G.; Shi, Jianxin; Shyn, Stanley; Sinnamon, Grant C.; Smit, Johannes H.; Smoller, Jordan W.; Snieder, Harold; Tanaka, Toshiko; Tansey, Katherine E.; Teumer, Alexander; Uher, Rudolf; Umbricht, Daniel; Van der Auwera, Sandra; Ware, Erin B.; Weir, David R.; Weissman, Myrna M.; Willemsen, Gonneke; Yang, Jingyun; Zhao, Wei; Tiemeier, Henning; Sullivan, Patrick F. (2017)
    BACKGROUND: The genetics of depression has been explored in genome-wide association studies that focused on either major depressive disorder or depressive symptoms with mostly negative findings. A broad depression phenotype including both phenotypes has not been tested previously using a genome-wide association approach. We aimed to identify genetic polymorphisms significantly associated with a broad phenotype from depressive symptoms to major depressive disorder. METHODS: We analyzed two prior studies of 70,017 participants of European ancestry from general and clinical populations in the discovery stage. We performed a replication meta-analysis of 28,328 participants. Single nucleotide polymorphism (SNP)-based heritability and genetic correlations were calculated using linkage disequilibrium score regression. Discovery and replication analyses were performed using a p-value-based meta-analysis. Lifetime major depressive disorder and depressive symptom scores were used as the outcome measures. RESULTS: The SNP-based heritability of major depressive disorder was 0.21 (SE = 0.02), the SNP-based heritability of depressive symptoms was 0.04 (SE = 0.01), and their genetic correlation was 1.001 (SE = 0.2). We found one genome-wide significant locus related to the broad depression phenotype (rs9825823, chromosome 3: 61,082,153, p = 8.2 x 10(-9)) located in an intron of the FHIT gene. We replicated this SNP in independent samples (p = .02) and the overall meta-analysis of the discovery and replication cohorts (1.0 x 10(-9)). CONCLUSIONS: This large study identified a new locus for depression. Our results support a continuum between depressive symptoms and major depressive disorder. A phenotypically more inclusive approach may help to achieve the large sample sizes needed to detect susceptibility loci for depression.
  • Hannon, Eilis; Dempster, Emma; Viana, Joana; Burrage, Joe; Smith, Adam R.; Macdonald, Ruby; St Clair, David; Mustard, Colette; Breen, Gerome; Therman, Sebastian; Kaprio, Jaakko; Toulopoulou, Timothea; Pol, Hilleke E. Hulshoff; Bohlken, Marc M.; Kahn, Rene S.; Nenadic, Igor; Hultman, Christina M.; Murray, Robin M.; Collier, David A.; Bass, Nick; Gurling, Hugh; McQuillin, Andrew; Schalkwyk, Leonard; Mill, Jonathan (2016)
    Background: Schizophrenia is a highly heritable, neuropsychiatric disorder characterized by episodic psychosis and altered cognitive function. Despite success in identifying genetic variants associated with schizophrenia, there remains uncertainty about the causal genes involved in disease pathogenesis and how their function is regulated. Results: We performed a multi-stage epigenome-wide association study, quantifying genome-wide patterns of DNA methylation in a total of 1714 individuals from three independent sample cohorts. We have identified multiple differentially methylated positions and regions consistently associated with schizophrenia across the three cohorts; these effects are independent of important confounders such as smoking. We also show that epigenetic variation at multiple loci across the genome contributes to the polygenic nature of schizophrenia. Finally, we show how DNA methylation quantitative trait loci in combination with Bayesian co-localization analyses can be used to annotate extended genomic regions nominated by studies of schizophrenia, and to identify potential regulatory variation causally involved in disease. Conclusions: This study represents the first systematic integrated analysis of genetic and epigenetic variation in schizophrenia, introducing a methodological approach that can be used to inform epigenome-wide association study analyses of other complex traits and diseases. We demonstrate the utility of using a polygenic risk score to identify molecular variation associated with etiological variation, and of using DNA methylation quantitative trait loci to refine the functional and regulatory variation associated with schizophrenia risk variants. Finally, we present strong evidence for the co-localization of genetic associations for schizophrenia and differential DNA methylation.
  • Kouri, Vesa-Petteri; Olkkonen, Juri; Kaivosoja, Emilia; Ainola, Mari-Mia; Juhila, Juuso; Hovatta, Iiris; Konttinen, Yrjo T.; Mandelin, Jami (2013)
  • Laukkala, Tanja; Vuorio, Alpo; Bor, Robert; Budowle, Bruce; Navathe, Pooshan; Pukkala, Eero; Sajantila, Antti (2018)
    Aircraft-assisted pilot suicide is a rare but serious phenomenon. The aim of this study was to evaluate changes in pilot aircraft-assisted suicide risks, i.e., a copycat effect, in the U.S. and Germany after the Germanwings 2015 incident in the French Alps. Aircraft-assisted pilot suicides were searched in the U.S. National Transportation Safety Board (NTSB) accident investigation database and in the German Bundestelle fur Flugunfalluntersuchung (BFU) Reports of Investigation database five years before and two years after the deliberate crash of the Germanwings flight into the French Alps in 2015. The relative risk (RR) of the aircraft-assisted pilot suicides was calculated. Two years after the incident, three out of 454 (0.66%) fatal incidents were aircraft-assisted suicides compared with six out of 1292 (0.46%) in the prior five years in the NTSB database. There were no aircraft-assisted pilot suicides in the German database during the two years after or five years prior to the Germanwings crash. The relative aircraft-assisted pilot suicide risk for the U.S. was 1.4 (95% CI 0.3-4.2) which was not statistically significant. Six of the pilots who died by suicide had told someone of their suicidal intentions. We consider changes in the rate to be within a normal variation. Responsible media coverage of aircraft incidents is important due to the large amount of publicity that these events attract.
  • Vuorio, Alpo; Budowle, Bruce; Sajantila, Antti; Laukkala, Tanja; Junttila, Ilkka; Kravik, Stein E.; Griffiths, Robin (2018)
    After the Germanwings accident, the French Safety Investigation Authority (BEA) recommended that the World Health Organization (WHO) and European Community (EC) develop clear rules for the duty of notification process. Aeromedical practitioners (AMEs) face a dilemma when considering the duty of notification and conflicts between pilot privacy and public and third-party safety. When balancing accountability, knowledge of the duty of notification process, legislation and the clarification of a doctor's own set of values should be assessed a priori. Relatively little is known of the magnitude of this problem in aviation safety. To address this, the National Transportation Safety Board (NTSB) database was searched to identify fatal accidents during 2015 in the United States in which a deceased pilot used a prescribed medication or had a disease that potentially reduced pilot performance and was not reported to the AME. Altogether, 202 finalized accident reports with toxicology were available from (the year) 2015. In 5% (10/202) of these reports, the pilot had either a medication or a disease not reported to an AME which according to the accident investigation was causal to the fatal accident. In addition, the various approaches to duty of notification in aviation in New Zealand, Finland and Norway are discussed. The process of notification of authorities without a pilot's express permission needs to be carried out by using a guidance protocol that works within legislation and professional responsibilities to address the pilot and the public, as well as the healthcare provider. Professional guidance defining this duty of notification is urgently needed.
  • Elovainio, Marko; Kuula, Liisa; Halonen, Risto; Pesonen, Anu-Katriina (2020)
    Background: Very late sleep rhythms are risks for social adjustment problems in adolescence. Using ecological momentary assessment data, we quantified and visualized temporal and contemporaneous within-persons dynamical relations of sleepiness and emotions in adolescents with and without late sleep rhythms. Methods: We analyzed a temporal network via multilevel vector autoregression (mlVAR) modeling and a contemporaneous network through the partial associations between the residuals of temporal and the between-subject multilevel models. We tested whether these networks were different between those with a late circadian rhythm [concurrent delayed sleep phase (DSP) N = 172, 37% boys, 63% girls] and those without (N = 143, 22% boys, 78% girls). Results: In adolescents without DSP, the temporal networks showed continuity only for low mood from the previous to the following time point. In adolescents with DSP, there were more predictable patterns of emotions. Feelings of depression led to a decrease of positive emotions and increase of irritation and anxiety. The contemporaneous networks showed clusters of positive and negative emotions in both groups and sleepiness decreased the experience of positive emotions concurrently. Limitations: DSP in our current study was based only on one out of three diagnostic criteria of the full disorder (DSM-5) and it was assessed only once. Conclusions: These findings indicate that the dynamic organization of emotions and sleepiness is different in adolescents with and without DSP. DSP adolescents have more predictable and maladaptive emotional patterns during the day. Results provide new insight about why individuals with DSP are at a heightened risk for decreased emotional adjustment.
  • Flink, N.; Lehto, S. M.; Koivumaa-Honkanen, H.; Viinamäki, H.; Ruusunen, A.; Valkonen-Korhonen, M.; Honkalampi, K. (2017)
    Background and objectives: Suicidal ideation is a key risk factor for suicidal behaviour among depressed individuals. To explore underlying cognitive patterns associated with suicidal ideation, the present study compared early maladaptive schemas (EMSs) among psychiatric outpatients in treatment for major depressive disorder with and without current suicidal ideation. Methods: The sample consisted of 79 depressed patients who responded to the background questionnaire and completed the Young Schema Questionnaire short form-extended, 21-item Beck Depression Inventory and Beck Hopelessness Scale. Results: Patients with suicidal ideation were more maladaptive in respect to the majority of EMSs compared to those without. After controlling for the concurrent depressive symptom severity and hopelessness 'Vulnerability to Harm or Illness' EMS, which concerns catastrophising beliefs, remained a predictor for suicidal ideation. Conclusion: EMSs may contribute to suicidal ideation among depressed individuals regardless of their mood and future orientation. These results offer implications for the assessment and treatment of suicidality. (C) 2017 Asociacion Universitaria de Zaragoza para el Progreso de la Psiquiatria y la Salud Mental. Published by Elsevier Espana, S.L.U. All rights reserved.
  • Auvinen, Piritta; Mäntyselkä, Pekka; Koponen, Hannu; Kautiainen, Hannu; Korniloff, Katariina; Ahonen, Tiina; Vanhala, Mauno (2018)
    Background: Restless legs syndrome is a sensorimotor disorder associated with several mental illnesses particularly depression. Methods: A cross-sectional study of primary care patients. The prevalence of restless legs symptoms was studied in 706 patients with depressive symptoms and 426 controls without a psychiatric diagnosis by using a structured questionnaire. The depressive symptoms were evaluated with the BDI and the psychiatric diagnosis was confirmed by means of a diagnostic interview (M.I.N.I.). The subjects with elevated depressive symptoms were divided into two groups subjects with depressive symptoms with and without clinical depression. Results: The prevalence of restless legs symptoms was 24.8% in the controls, 50.0% in the patients with clinical depression and 42.4% in the patients with depressive symptoms. CRP value was significantly higher (p =.003) in the clinically depressed patients than in the other groups. There was a higher concentration of TNF-alpha in the subjects with restless legs symptoms (7.4 ng/l +/- 3.2) compared with the subjects without symptoms (6.7 ng/1 +/- 2.3)(p Conclusions: TNF-alpha level was associated with restless legs symptoms only among subjects with depressive symptoms whether they had clinical depression or not. We suggest that TNF-alpha could be an underlying factor between restless legs symptoms and comorbidities.
  • Svedholm-Häkkinen, Annika M.; Halme, Saara; Lindeman, Marjaana (2018)
    Background/Objective: Empathizing-Systemizing Theory suggests that low empathizing and high systemizing are linked to autistic traits in the general population. Evidence from autistic individuals is convincing, but more research in the normal population is needed. Method: We conducted two surveys (N=3,345) investigating the relationships between empathizing, systemizing and autistic traits in the general population, using a large variety of self-report instruments and direct performance tests. Results: Strong connections between autistic symptoms, empathizing, and systemizing were found using commonly used measures (Autism Quotient, Systemizing Quotient and Empathizing Quotient). Other measures on empathizing and systemizing found the connections that E-S-theory predicts, but the correlations were a lot more modest. Weak empathizing was related to autism's social difficulties, while systemizing was linked to non-social aspects of autism. Conclusions: The present results support the main tenets of empathizing-systemizing theory, but suggest that earlier findings might be inflated due to overlapping items in the most common assessment instruments. (c) 2017 Asociacion Espanola de Psicologia Conductual. Published by Elsevier Espana, S.L.U.
  • Khulan, B.; Manning, J. R.; Dunbar, D. R.; Seckl, J. R.; Raikkonen, K.; Eriksson, J. G.; Drake, A. J. (2014)
  • Sorsa, Johanna; Fontell, Tuija; Laajasalo, Taina; Aronen, Eeva T. (2019)
    Assessment of behavioral disorders is one of the most commonly encountered tasks in child psychiatry. The Eyberg Child Behavior Inventory (ECBI) is a widespread measurement tool used for assessing conduct problems, though the psychometric properties of the tool have varied in different samples. In this study, the ECBI was evaluated in a Finnish population based sample of children aged 4 to 12 years (n = 1,715). Factor structure and internal consistency of the ECBI and associates of behavioral problems in Finnish children were evaluated. The results showed that a unidimensional one‐factor solution for the ECBI intensity scale was the best fit for the data. The ECBI mean scores were considerably higher in our sample compared to other Nordic countries. Boys scored higher than girls on both ECBI scales, and the mean scores decreased with child's age. Socioeconomic status (SES) was weakly connected to the ECBI scores. Our results highlight the need for country specific reference norms in order to improve the clinical utility of evidence‐based measures for assessing conduct problems.
  • Ip, Hill F.; van der Laan, Camiel M.; Krapohl, Eva M. L.; Brikell, Isabell; Sanchez-Mora, Cristina; Nolte, Ilja M.; St Pourcain, Beate; Bolhuis, Koen; Palviainen, Teemu; Zafarmand, Hadi; Colodro-Conde, Lucia; Gordon, Scott; Zayats, Tetyana; Aliev, Fazil; Jiang, Chang; Wang, Carol A.; Saunders, Gretchen; Karhunen, Ville; Hammerschlag, Anke R.; Adkins, Daniel E.; Border, Richard; Peterson, Roseann E.; Prinz, Joseph A.; Thiering, Elisabeth; Seppala, Ilkka; Vilor-Tejedor, Natalia; Ahluwalia, Tarunveer S.; Day, Felix R.; Hottenga, Jouke-Jan; Allegrini, Andrea G.; Rimfeld, Kaili; Chen, Qi; Lu, Yi; Martin, Joanna; Soler Artigas, Maria; Rovira, Paula; Bosch, Rosa; Espanol, Gemma; Ramos Quiroga, Josep Antoni; Neumann, Alexander; Ensink, Judith; Grasby, Katrina; Morosoli, Jose J.; Tong, Xiaoran; Marrington, Shelby; Middeldorp, Christel; Scott, James G.; Vinkhuyzen, Anna; Shabalin, Andrey A.; Corley, Robin; Evans, Luke M.; Sugden, Karen; Alemany, Silvia; Sass, Laerke; Vinding, Rebecca; Ruth, Kate; Tyrrell, Jess; Davies, Gareth E.; Ehli, Erik A.; Hagenbeek, Fiona A.; De Zeeuw, Eveline; Van Beijsterveldt, Toos C. E. M.; Larsson, Henrik; Snieder, Harold; Verhulst, Frank C.; Amin, Najaf; Whipp, Alyce M.; Korhonen, Tellervo; Vuoksimaa, Eero; Rose, Richard J.; Uitterlinden, Andre G.; Heath, Andrew C.; Madden, Pamela; Haavik, Jan; Harris, Jennifer R.; Helgeland, Oyvind; Johansson, Stefan; Knudsen, Gun Peggy S.; Njolstad, Pal Rasmus; Lu, Qing; Rodriguez, Alina; Henders, Anjali K.; Mamun, Abdullah; Najman, Jackob M.; Brown, Sandy; Hopfer, Christian; Krauter, Kenneth; Reynolds, Chandra; Smolen, Andrew; Stallings, Michael; Wadsworth, Sally; Wall, Tamara L.; Silberg, Judy L.; Miller, Allison; Keltikangas-Järvinen, Liisa; Hakulinen, Christian; Pulkki-Råback, Laura; Havdahl, Alexandra; Magnus, Per; Raitakari, Olli T.; Perry, John R. B.; Llop, Sabrina; Lopez-Espinosa, Maria-Jose; Bonnelykke, Klaus; Bisgaard, Hans; Sunyer, Jordi; Lehtimaki, Terho; Arseneault, Louise; Standl, Marie; Heinrich, Joachim; Boden, Joseph; Pearson, John; Horwood, L. John; Kennedy, Martin; Poulton, Richie; Eaves, Lindon J.; Maes, Hermine H.; Hewitt, John; Copeland, William E.; Costello, Elizabeth J.; Williams, Gail M.; Wray, Naomi; Jarvelin, Marjo-Riitta; McGue, Matt; Iacono, William; Caspi, Avshalom; Moffitt, Terrie E.; Whitehouse, Andrew; Pennell, Craig E.; Klump, Kelly L.; Burt, S. Alexandra; Dick, Danielle M.; Reichborn-Kjennerud, Ted; Martin, Nicholas G.; Medland, Sarah E.; Vrijkotte, Tanja; Kaprio, Jaakko; Tiemeier, Henning; Davey Smith, George; Hartman, Catharina A.; Oldehinkel, Albertine J.; Casas, Miquel; Ribases, Marta; Lichtenstein, Paul; Lundstrom, Sebastian; Plomin, Robert; Bartels, Meike; Nivard, Michel G.; Boomsma, Dorret I. (2021)
    Childhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association metaanalysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap. We also meta-analyzed within subsets of the data, i.e., within rater, instrument and age. SNP-heritability for the overall meta-analysis (AGGoverall) was 3.31% (SE= 0.0038). We found no genome-wide significant SNPs for AGG(overall). The gene-based analysis returned three significant genes: ST3GAL3 (P= 1.6E-06), PCDH7 (P= 2.0E-06), and IPO13 (P= 2.5E-06). All three genes have previously been associated with educational traits. Polygenic scores based on our GWAMA significantly predicted aggression in a holdout sample of children (variance explained = 0.44%) and in retrospectively assessed childhood aggression (variance explained = 0.20%). Genetic correlations (rg) among rater-specific assessment of AGG ranged from r(g)= 0.46 between self- and teacher-assessment to r(g)d= 0.81 between mother- and teacher-assessment. We obtained moderate-to-strong rgs with selected phenotypes from multiple domains, but hardly with any of the classical biomarkers thought to be associated with AGG. Significant genetic correlations were observed with most psychiatric and psychological traits (range r(g): 0.19-1.00), except for obsessive-compulsive disorder. Aggression had a negative genetic correlation (r(g)=-0.5) with cognitive traits and age at first birth. Aggression was strongly genetically correlated with smoking phenotypes (range |r(g)| : 0.46-0.60). The genetic correlations between aggression and psychiatric disorders were weaker for teacher-reported AGG than for mother- and self-reported AGG. The current GWAMA of childhood aggression provides a powerful tool to interrogate the rater-specific genetic etiology of AGG.
  • Narusyte, Jurgita; Ropponen, Annina; Silventoinen, Karri; Alexanderson, Kristina; Kaprio, Jaakko; Samuelsson, Asa; Svedberg, Pia (2011)
  • Pyykkö, Ilmari; Manchaiah, Vinaya; Levo, Hilla; Kentala, Erna (2015)
    The study was aimed at evaluating the validity of impact measures among patients with Meniere's disease (MD) with outcome variables of EuroQol generic health-related quality of life (HRQoL) measures (i.e., EQ-5D) by using Visual Analogue Scale (VAS) and EQ-5D index values. 183 members (out of 200 contacted) of the Finish Meniere Association returned the questionnaires that they had filled out. Various open-ended and structured questionnaires focusing on diagnostic aspects of symptoms and impairment caused by the disease were used. For activity limitation and participation restriction, standardized questionnaires were used. Open-ended questions on impact of the disease were asked, and subsequently classified based on the WHO-ICF classification. The general HRQoL was evaluated with EQ-5D index value and EQ VAS instruments. Correlation and linear regression analyses were used to explore the association between HRQoL and other aspects. Based on the explanatory power of different models the disease specific semeionic model provides the most accurate prediction in EQ-5D index calculations (38 % of the variance explained). In EQ VAS scores, HRQoL is most accurately determined by participation restriction (53 % of the variance explained), but the worst prediction was in ICF-based limitations (8 % of the variance explained). Interestingly, attitude and personal trait explained the reduction of HRQoL somewhat better than ICF-based variables. Activity limitation and participation restrictions are significant components of MD, but are less frequently recognized as significant factors in self-evaluating the effect of MD on the quality of life. The current study results suggest that MD patients seem to have problem identifying factors causing activity limitation and participation restrictions and hence use the semiotic description focusing on complaints.
  • Sammallahti, Sara; Lahti, Marius; Pyhala, Riikka; Lahti, Jari; Pesonen, Anu-Katriina; Heinonen, Kati; Hovi, Petteri; Eriksson, Johan G.; Strang-Karlsson, Sonja; Jarvenpaa, Anna-Liisa; Andersson, Sture; Kajantie, Eero; Räikkönen, Katri (2015)
    Objectives Faster growth after preterm birth benefits long-term cognitive functioning. Whether these benefits extend to mental health remains largely unknown. We examined if faster growth in infancy is associated with better self-reported mental health in young adults born preterm at very low birth weight (VLBW) ( Study Design As young adults, participants of the Helsinki Study of Very Low Birth Weight Adults self-reported symptoms of depression and attention deficit/hyperactivity disorder (ADHD) (n = 157) and other psychiatric problems (n = 104). As main predictors of mental health outcomes in linear regression models, we used infant weight, length, and head circumference at birth, term, and 12 months of corrected age, and growth between these time points. Growth data were collected from records and measures at term and at 12 months of corrected age were interpolated. Additionally, we examined the moderating effects of intrauterine growth restriction. Results Size at birth, term, or 12 months of corrected age, or growth between these time points were not associated with mental health outcomes (p-values >0.05). Intrauterine growth restriction did not systematically moderate any associations. Conclusions Despite the high variability in early growth of VLBW infants, the previously described association between slow growth in infancy and poorer cognitive functioning in later life is not reflected in symptoms of depression, ADHD, and other psychiatric problems. This suggests that the development of cognitive and psychiatric problems may have dissimilar critical periods in VLBW infants.