Yolanda de Diego

Publications (29) View all

• Source

  Available from: Claudio Toma

  Article: Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.

  Claudio Toma, Amaia Hervás, Bàrbara Torrico, Noemí Balmaña, Marta Salgado, Marta Maristany, Elisabet Vilella, Rafael Martínez-Leal, Ma Inmaculada Planelles, Ivon Cuscó, Miguel Del Campo, Luis A Pérez-Jurado, Rafaela Caballero-Andaluz, Yolanda de Diego-Otero, Lucía Pérez-Costillas, Josep A Ramos-Quiroga, Marta Ribasés, Mònica Bayés, Bru Cormand
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  ABSTRACT: Impairment of language abilities is a common feature in autistic individuals. Heterozygous mutations in the Forkhead Box P2 (FOXP2) gene lead to a severe spoken language disorder. Recently, several studies have pinpointed the involvement of common variants of the Contactin-Associated Protein-Like 2 (CNTNAP2) gene, whose transcription is regulated by the product of FOXP2, in several disorders characterized by language impairments such as autism, specific language impairment (SLI), and selective mutism (SM). In the present study, common variants of the FOXP2 and the CNTNAP2 genes were analyzed through a case-control association study in 322 Spanish autistic patients and 524 controls. The results of this study suggest that common variants of FOXP2 are unlikely to contribute to autism susceptibility, in agreement with previous findings. Furthermore, we failed to replicate in our sample a previous association finding of two single nucleotide polymorphisms (rs2710102 and rs7794745) in the CNTNAP2 gene with autism. No evidence for the association of these genes with language traits was observed in our analysis.
  Psychiatric genetics 12/2012; · 2.33 Impact Factor
• Article: Males but not females show differences in calbindin immunoreactivity in the dorsal thalamus of the mouse model of fragile X syndrome.

  Rosa M Giráldez-Pérez, M Nieves Avila, Mónica Feijóo-Cuaresma, Raúl Heredia, Yolanda de Diego-Otero, M Ángeles Real, Salvador Guirado
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  ABSTRACT: Fragile X syndrome (FXS), the most common form of inherited mental retardation, and is caused by the loss of the Fmr1 gene product, fragile X mental retardation protein. Here we analyze the immunohistochemical expression of calcium-binding proteins in the dorsal thalamus of Fmr1 knockout mice of both sexes and compare it with that of wild-type littermates. The spatial distribution pattern of calbindin-immunoreactive cells in the dorsal thalamus was similar in wild-type and knockout mice but there was a most notable reduction in calbindin-immunoreactive cells in midline/intralaminar/posterior dorsal thalamic nuclei of male Fmr1 knockout mice. We counted the number of calbindin-immunoreactive cells in eighteen distinct nuclei of the dorsal thalamus. Knockout male mice showed a significant reduction in calbindin-immunoreactive cells (ranging 36-67% lower) whereas female knockout mice did not show significant differences (in any dorsal thalamic nucleus) when compared with their wild-type littermates. No variation in the calretinin expression pattern was observed throughout the dorsal thalamus. The number of calretinin-immunoreactive cells was similar for all experimental groups as well. Parvalbumin immunoreactivity was restricted to fibers and neuropil in the analyzed dorsal thalamic nuclei, and presented no differences between genotypes. Midline/intralaminar/posterior dorsal thalamic nuclei are involved in forebrain circuits related to memory, nociception, social fear, and auditory sensory integration, therefore we suggest that downregulation of calbindin protein expression in the dorsal thalamus of male knockout mice should be taken into account when analyzing behavioral studies in the mouse model of FXS. J. Comp. Neurol., 2012. © 2012 Wiley Periodicals, Inc.
  The Journal of Comparative Neurology 08/2012; · 3.81 Impact Factor
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  Available from: Claudio Toma

  Article: Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC.

  Claudio Toma, Amaia Hervás, Noemí Balmaña, Marta Salgado, Marta Maristany, Elisabet Vilella, Francisco Aguilera, Carmen Orejuela, Ivon Cuscó, Fátima Gallastegui, Luis Alberto Pérez-Jurado, Rafaela Caballero-Andaluz, Yolanda de Diego-Otero, Guadalupe Guzmán-Alvarez, Josep Antoni Ramos-Quiroga, Marta Ribasés, Mònica Bayés, Bru Cormand
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  ABSTRACT: Objectives. Neurotransmitter systems and neurotrophic factors can be considered strong candidates for autism spectrum disorder (ASD). The serotoninergic and dopaminergic systems are involved in neurotransmission, brain maturation and cortical organization, while neurotrophic factors (NTFs) participate in neurodevelopment, neuronal survival and synapses formation. We aimed to test the contribution of these candidate pathways to autism through a case-control association study of genes selected both for their role in central nervous system functions and for pathophysiological evidences. Methods. The study sample consisted of 326 unrelated autistic patients and 350 gender-matched controls from Spain. We genotyped 369 tagSNPs to perform a case-control association study of 37 candidate genes. Results. A significant association was obtained between the DDC gene and autism in the single-marker analysis (rs6592961, P = 0.00047). Haplotype-based analysis pinpointed a four-marker combination in this gene associated with the disorder (rs2329340C-rs2044859T-rs6592961A-rs11761683T, P = 4.988e-05). No significant results were obtained for the remaining genes after applying multiple testing corrections. However, the rs167771 marker in DRD3, associated with ASD in a previous study, displayed a nominal association in our analysis (P = 0.023). Conclusions. Our data suggest that common allelic variants in the DDC gene may be involved in autism susceptibility.
  The World Journal of Biological Psychiatry 03/2012; · 2.38 Impact Factor
• Article: [Brief Suicide Questionnaire. Inter-rater reliability].

  Rebeca García-Nieto, Isabel Parra Uribe, Diego Palao, Jorge Lopez-Castroman, Pilar Alejandra Sáiz, María Paz García-Portilla, Jerónimo Saiz Ruiz, Angela Ibañez, Thais Tiana, Santiago Durán Sindreu, [......], Lucas Giner, Julio Antonio Guija, José Luis Escobar, Jorge Antonio Cervilla, Marta Quesada, Dolores Braquehais, Hilario Blasco-Fontecilla, Teresa Legido-Gil, Fuensanta Aroca, Enrique Baca-García
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  ABSTRACT: Inter-rater agreement is a crucial aspect in the planning and performance of a clinical trial in which the main assessment tool is the clinical interview. The main objectives of this study are to study the inter-rater agreement of a tool for the assessment of suicidal behavior (Brief Suicide Questionnaire) and to examine whether the inter-examiner agreement when multiple ratings are made on a single subject is an efficient method to assess the reliability of an instrument. In the context of designing a multicenter clinical trial, 32 psychiatrists assessed a videotaped clinical interview of a patient with suicidal behavior. In order to identify those items in which a greater level of discordance existed and detect the examiners whose ratings differed significantly from the average ratings, we used the DOMENIC method (Detecion of Multiple Examiners Not in Consensus). Inter-rater agreement was between poor (<70%) to excelent (90-100%. Inter-rater agreement in Brugha's list of threatening experiences ranged from 75.5 and 100%; in the Global Assessment of Functioning (GAF) Scale was 82.58%; in the Beck's Suicidal Intent Scale, ranged from 67.5 and 97%; in the Beck's Scale for Suicide Ideation, ranged from 63.5 and 100%; and in the Lethality Rating Scale was 88.39%. On the whole, the level of agreement among raters, both in general scores and in particular items, was appropriate. The proposed design allows the assessment of the inter-rater agreement in an efficient way (only in one session). In addition, regarding the Brief Suicide Questionnaire, inter-raters agreement was appropriate.
  Revista de psiquiatrí́a y salud mental. 01/2012; 5(1):24-36.
• Source

  Available from: Claudio Toma

  Article: Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism.

  Claudio Toma, Amaia Hervás, Noemí Balmaña, Elisabet Vilella, Francisco Aguilera, Ivon Cuscó, Miguel del Campo, Rafaela Caballero, Yolanda De Diego-Otero, Marta Ribasés, Bru Cormand, Mònica Bayés
  Journal of psychiatric research 09/2010; 45(2):280-2. · 3.72 Impact Factor