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The use of Polygenic Scores in a family design of First Episode Psychosis
- N. Murillo-Garcia, S. Papiol, S. Barrio-Martínez, M. Sevilla-Ramos, R. Magdaleno-Herrero, Á. Yorca-Ruiz, V. Ortíz-García de la Foz, M. Miguel-Corredera, M. Fatjó-Vilas, R. Ayesa-Arriola
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- Journal:
- European Psychiatry / Volume 66 / Issue S1 / March 2023
- Published online by Cambridge University Press:
- 19 July 2023, p. S631
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Introduction
A wide variety of traits is heritable and has genetic loading, including schizophrenia spectrum disorders (SSDs) and its associated neurocognitive features. The genetic architecture of SSDs is polygenic, with the contribution of thousands of single nucleotide polymorphisms of small effect with an estimated SNP-heritability of 24%. The same occurs with neurocognitive phenotypes such as intelligence or educational attainment. Therefore, the method of polygenic risk scores (PRS) is useful in estimating the genetic burden of such traits. Moreover, the use of PRS in a sample of genetically related individuals would allow analyzing the contribution of genetic and environmental factors involved in the development of the disorder and its candidate endophenotypes.
ObjectivesTo estimate PRS for schizophrenia, and polygenic scores for intelligence and educational attainment in patients with First Episode Psychosis (FEP), their first-degree relatives (siblings and parents), and a group of healthy controls.
MethodsThe sample is comprised of 579 participants of the PAFIP-FAMILIAS project in Santander, Spain (133 FEP patients, their 244 first-degree relatives, and 202 healthy controls). All provided sociodemographic information and completed the same neuropsychological battery. Participants’ DNA was extracted from venous blood samples, and genotyping was performed at the Centro Nacional de Investigaciones Oncológicas (CeGen) by the Global Screening Array v.3.0 panel (Illumina). Data quality control, imputation, calculation of PRS, and genetic association analysis are being performed using PLINK, SHAPEIT, IMPUTE2, SPSS and R.
ResultsData analysis is currently in progress, at the quality analysis stage, in collaboration with the Institute of Psychiatric Phenomics and Genomics (IPPG) in Munich, Germany. We expect to find higher PRS for schizophrenia in FEP patients, while their first-degree relatives will potentially show intermediate risk scores between patients and healthy controls. A similar finding is expected regarding intelligence and educational attainment, as FEP patients may show more genetic burden for low intelligence and education.
ConclusionsThe estimation of PRS has demonstrated to be valuable in studying complex traits such as schizophrenia. We believe that by applying this method in a family design can provide interesting insights on the development of SSDs and its potential endophenotypes, and potentially useful in their prevention.
Disclosure of InterestNone Declared
Is social media important in adolescents with eating disorders?
- B. Martínez-Núñez, D. S. Cohen, R. Encinas-Encinas, A. Paniagua-Velasco, D. A. Gómez-Guimaraes, C. García-López, B. Muchada-López, M. Faya-Barrios, M. Graell-Berna
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- Journal:
- European Psychiatry / Volume 66 / Issue S1 / March 2023
- Published online by Cambridge University Press:
- 19 July 2023, pp. S522-S523
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Introduction
Eating disorders (ED) are complex entities of multicausal etiology that mainly affect adolescents and young women. For this reason, EDs frequently cause medical and psychological complications that can cause potentially irreversible developmental sequelae during adolescence.
96% of Spanish youth (15-29 years old) use daily Internet. In addition, 83% use Social Networks. Internet could be a good way to spread information through social media, websites, providing material and means to achieve the body culture purpose.
As we have seen in various papers, social media can influence and trigger the development of EDs.
ObjectivesThe objetives of the study are to analyse the preferred social network by adolescents diagnosed with eating disorders, as well as to measure characteristic and time-use of these networks.
MethodsWe decided to undergo a transversal study to analyse the use of social media. For that, we developed a survey to reflect the use of the main social networks (Instagram, Facebook, Snapchat, Twitter, YouTube and Reddit) in adolescents diagnosed with eating disorders in Spain, who are in outpatient treatment in a specialised ED unit.
ResultsThe total number of adolescents interviewed was 65; of these 96.9% were females and 3.1% males. The mean age was 14.8 years.
The preferred social network was Instagram (54%), followed by TikTok (34%) and YouTube (6%).
Most of the patients interviewed (68%) admitted checking Instagram daily, and 31% reflected spending between 1-3 hours/day. None of the adolescents reported using Facebook or Reddit.
The majority of adolescents (89%) admitted having ignored friend requests while 12% reflected the importance of having a high number of followers as a way of external validation, getting more ‘likes’ and getting to know more people.
ConclusionsThe obtained results reinforce the need of exploring and taking into account the use of Social Media in adolescents with ED and how it may influence their pathology. There is a need for further prospective research in this field.
Disclosure of InterestNone Declared
A family study on first episode of psychosis patients: exploring neuropsychological performance as an endophenotype
- R. Ayesa-Arriola, N. Murillo-García, A. Díaz-Pons, M. Miguel-Corredera, S. Barrio-Martínez, V. Ortiz-García De La Foz
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- Journal:
- European Psychiatry / Volume 65 / Issue S1 / June 2022
- Published online by Cambridge University Press:
- 01 September 2022, pp. S108-S109
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Introduction
Family studies provide the opportunity to investigate endophenotypes as a powerful neurobiological platform to better understand the underlying neurobiological mechanisms of schizophrenia spectrum disorders. Shared features between the patients and their first-degree relatives may shed some light on the path to identify potential causes of psychosis, and to implement preventive and therapeutic interventions.
ObjectivesThis study aimed to explore and compare neuropsychological measures in first episodes of psychosis (FEP) patients, their first-degree relatives and healthy controls (HC), participants on the PAFIP-FAMILIES project.
MethodsStatistical analyses were performed using one-way ANOVA, followed by multiple comparisons test where appropriate. Age, sex and years of education were introduced as covariates.
ResultsFrom 387 eligible FEP patients enrolled in a previous cohort, 133 were included. In addition, 244 of their first-degree relatives (146 parents and 98 siblings) and 202 HC participated in this study (see Figure 1). In general, relatives showed an intermediate neuropsychological performance between the HC and the FEP patients (see Figure 2). Specifically, siblings performed similar to HC in the domains verbal memory, visual memory, working memory, motor dexterity and theory of mind, since their values practically overlap those of HC. The parents presented significant deficits, similar to that of the affected individuals, in executive functions and attention domains.
ConclusionsThese findings suggest that executive and attention dysfunction might have a greater family aggregation and could be a relevant cognitive endophenotype for psychotic disorders. The study shows the potential of exploring intra-family neuropsychological performance supporting neurobiological and genetic research in schizophrenia.
DisclosureNo significant relationships.