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Women with polycystic ovary syndrome (PCOS): Likelihood of cooccurring neuropsychiatric conditions and the dual hit hypothesis
(Elsevier BV, 2025-04)
Juan Pablo Del Río
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Alexandros Tsompanidis
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Pablo A. Gaspar
;
Alejandro Maturana-Hurtado
;
Gonzalo M. Rojas-Costa
Scopus© Citations 7 6
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Early developmental screening tools constructed in Latin American countries: umbrella review
(Publicidad Permanyer, SLU, 2025-04-09)
SCHONHAUT BERMAN, LUISA
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Antonia Valdés
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Ilan Oppenheimer
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Antonio Rizzoli-Córdoba
;
Rolando Rivera
2Scopus© Citations 2
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Psychiatric genetics in the diverse landscape of Latin American populations
(Springer Science and Business Media LLC, 2025-04-02)
Estela M. Bruxel
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Diego L. Rovaris
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Sintia I. Belangero
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Gabriela Chavarría-Soley
;
Alfredo B. Cuellar-Barboza
4
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Síndrome de Ovario Poliquístico y Salud Mental en Adolescentes
(2024)
María Rosario Matte
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Juan Pablo Del Rio
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Olga Fernández
;
Nicolás Crisosto King
<jats:p>El Síndrome de Ovario Poliquístico (SOP) es el desorden endocrino-metabólico más frecuente en las adolescentes. Se asocia a complicaciones metabólicas, cardiovasculares y reproductivas. Hallazgos recientes sugieren también una asociación con patología psiquiátrica, tanto en las pacientes afectadas como en su descendencia. En la presente actualización, se realizó una síntesis de la literatura reciente relativa a la salud mental en mujeres y adolescentes con SOP. Se realizó una búsqueda sistematizada en PubMed, Epistemonikos y Scielo de los artículos publicados en los últimos 5 años. Se confirmó que existe un aumento significativo del riesgo de presentar trastornos por ansiedad, depresión, trastornos alimenticios, trastorno obsesivo compulsivo, trastorno afectivo bipolar y psicosis en mujeres con SOP. Además, presentan riesgo de trastornos del neurodesarrollo, tales como trastorno del espectro autista y trastorno por déficit atencional e hiperactividad, tanto en ellas como en su descendencia. La hiperinsulinemia y el hiperandrogenismo podrían explicar parte de estas asociaciones, afectando la maduración del sistema nervioso central, especialmente durante la vida intrauterina y la adolescencia. El distrés derivado de las características fenotípicas físicas de la enfermedad también podría impactar la salud mental de las pacientes. Aún no se cuenta con suficientes estudios que expliquen el origen de esta correlación, ni tampoco con ensayos clínicos que aborden la salud mental de forma específica en estas pacientes. La evidencia actual sugiere la necesidad de evaluar activamente la salud mental de estas pacientes y coordinar a los distintos equipos de salud que intervengan en el manejo de la patología.</jats:p>
1
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Detección temprana de Trastorno del Espectro Autista: revisión de las herramientas de tamizaje validadas en Chile
(2023)
Luisa Schonhaut B.
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Veronica Buron K
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Roxana Aguilera E.
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Lorena Vargas B.
<jats:p>La pesquisa y derivación temprana del trastorno del espectro autista (TEA) son claves para potenciar el desarrollo de los niños afectados. Recientemente se promulgó una ley que indica realizar tamizaje de TEA en las prestaciones de salud. Esto representa un desafío para los profesionales de pediatría ambulatoria. El objetivo es revisar la utilidad en el tamizaje de TEA, de cuestionarios y escalas validadas en Chile para el screening del desarrollo psicomotor, desarrollo socio-emocional y cribado específico de TEA. El screening del desarrollo psicomotor evalúa el desempeño general desde edades tempranas, dando las primeras señales de retraso, con mayor probabilidad de que se trate de TEA si hay compromiso de los dominios social y lenguaje. Los cuestionarios socio-emocionales pueden ser aplicados precozmente, entre sus ítems se incorporaron preguntas de señales de TEA, pero no se usan rutinariamente en atención pediátrica. Las escalas específicas de screening de TEA validadas en Chile son Cuestionario Modificado de Detección del Autismo en Niños y Niñas Pequeños (M-CHAT), Quantitative Checklist for Autism in Toddlers Q-CHAT (Q-CHAT) y el Examen del Estado Mental para Autismo (AMSE), para lactantes mayores de 15/18 meses, con propiedades psicométricas prometedoras. Se recomienda complementar la observación clínica con pruebas generales para el tamizaje del desarrollo psicomotor, desarrollo socio-emocional y escalas específicas para el screening de TEA, en forma seriada en la infancia. La implementación de cuestionarios en línea permite optimiza su cobertura e interpretación. Independiente del dominio afectado, es importante realizar un seguimiento y comenzar con intervención temprana, mientras se realiza la confirmación diagnóstica. </jats:p>
Scopus© Citations 3 2
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Pathogenic variant in the PCDH19 gene in a patient with epilepsy and cognitive disability
(2020)
REPETTO LISBOA, MARIA GABRIELA
2Scopus© Citations 2
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Towards a comprehensive approach to mentalization-based treatment for children with autism: integrating attachment, neurosciences, and mentalizing
(2023)
Stefanella Costa-Cordella
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SOTO ICAZA, PATRICIA
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Karin Borgeaud
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Aitana Grasso-Cladera
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Norka T. Malberg
Autism spectrum disorder (ASD) is diagnosed based on socio-communicative difficulties, which are believed to result from deficits in mentalizing, mainly evidenced by alterations in recognizing and responding to the mental states of others. In recent years, efforts have been made to develop mentalization-based treatment (MBT) models for this population. These models focus on enhancing individuals’ ability to understand and reflect on their own mental states, as well as those of others. However, MBT approaches for people with ASD are limited by their existing theoretical background, which lacks a strong foundation grounded in neuroscience-based evidence properly integrated with attachment, and mentalizing. These are crucial aspects for understanding psychological processes in autism, and as such, they play a pivotal role in shaping the development of tailored and effective therapeutic strategies for this specific population. In this paper we review evidence related to the neurobiological, interpersonal, and psychological dimensions of autism and their implications for mentalizing processes. We also review previous mentalization-based frameworks on the psychosis continuum to provide a comprehensive understanding of attachment, neurobiology, and mentalization domains in therapeutic approaches for autism. After presenting a synthesis of the literature, we offer a set of clinical strategies for the work with children with autism. Finally, we provide recommendations to advance the field towards more robust models that can serve as a basis for evidence-based therapeutic strategies.
4
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<i>SLC6A1</i> variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis
(2023)
Arthur Stefanski
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Eduardo Pérez-Palma
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Tobias Brünger
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Ludovica Montanucci
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Cornelius Gati
<jats:title>Abstract</jats:title> <jats:p>Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by altering the protein function. Thus, systematically curated clinically relevant genotype-phenotype associations are needed to understand the disease mechanism and improve therapeutic decision-making.</jats:p> <jats:p>We aggregated genetic and clinical data from 172 individuals with likely pathogenic/pathogenic (lp/p) SLC6A1 variants and functional data for 184 variants (14.1% lp/p). Clinical and functional data were available for a subset of 126 individuals. We explored the potential associations of variant positions on the GAT1 3D structure with variant pathogenicity, altered molecular function and phenotype severity using bioinformatic approaches.</jats:p> <jats:p>The GAT1 transmembrane domains 1, 6 and extracellular loop 4 (EL4) were enriched for patient over population variants. Across functionally tested missense variants (n = 156), the spatial proximity from the ligand was associated with loss-of-function in the GAT1 transporter activity. For variants with complete loss of in vitro GABA uptake, we found a 4.6-fold enrichment in patients having severe disease versus non-severe disease (P = 2.9 × 10−3, 95% confidence interval: 1.5–15.3).</jats:p> <jats:p>In summary, we delineated associations between the 3D structure and variant pathogenicity, variant function and phenotype in SLC6A1-related disorders. This knowledge supports biology-informed variant interpretation and research on GAT1 function. All our data can be interactively explored in the SLC6A1 portal (https://slc6a1-portal.broadinstitute.org/).</jats:p>
Scopus© Citations 3 3
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Editorial: SLC6A1: the past, present and future
(2023)
Katrine M. Johannesen
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Eduardo Pérez-Palma
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Guido Rubboli
Scopus© Citations 2
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Catalytic autoantibodies against myelin basic protein (MBP) isolated from serum of autistic children impair in vitro models of synaptic plasticity in rat hippocampus
(2015)
Mario Gonzalez-Gronow
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Miguel Cuchacovich
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Rina Francos
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Stephanie Cuchacovich
;
Angel Blanco
Scopus© Citations 19 1

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