Le numéro de novembre de Biological Psychiatru est consacré aux mécanismes génétiques dans le trouble du spectre de l’autisme.

1. Aydin Ü, Gyurkovics M, Ginestet C, Capp S, Greven CU, Palmer J, McLoughlin G. Genetic Overlap Between Midfrontal Theta Signals and Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in a Longitudinal Twin Cohort. Biological psychiatry. 2023; 94(10): 823-32.

BackgroundCognitive control has been strongly linked to midfrontal theta (4?8 Hz) brain activity. Such control processes are known to be impaired in individuals with psychiatric conditions and neurodevelopmental diagnoses, including attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Temporal variability in theta, in particular, has been associated with ADHD, with shared genetic variance underlying the relationship. Here, we investigated the phenotypic and genetic relationships between theta phase variability, theta-related signals (the N2, error-related negativity, and error positivity), reaction time, and ADHD and ASD longitudinally in a large twin study of young adults to investigate the stability of the genetic relationships between these measures over time.

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2. Li R, Lightbody AA, Lee CH, Bartholomay KL, Marzelli MJ, Reiss AL. Association of Intrinsic Functional Brain Network and Longitudinal Development of Cognitive Behavioral Symptoms in Young Girls With Fragile X Syndrome. Biological psychiatry. 2023; 94(10): 814-22.

BackgroundFragile X syndrome (FXS) is an X chromosome?linked genetic disorder characterized by increased risk for behavioral, social, and neurocognitive deficits. Because males express a more severe phenotype than females, research has focused largely on identifying neural abnormalities in all-male or both-sex populations with FXS. Therefore, very little is known about the neural alterations that contribute to cognitive behavioral symptoms in females with FXS. This cross-sectional study aimed to elucidate the large-scale resting-state brain networks associated with the multidomain cognitive behavioral phenotype in girls with FXS.

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3. Rasero J, Jimenez-Marin A, Diez I, Toro R, Hasan MT, Cortes JM. The Neurogenetics of Functional Connectivity Alterations in Autism: Insights From Subtyping in 657 Individuals. Biological psychiatry. 2023; 94(10): 804-13.

BackgroundThere is little consensus and controversial evidence on anatomical alterations in the brains of people with autism spectrum disorder (ASD), due in part to the large heterogeneity present in ASD, which in turn is a major drawback for developing therapies. One strategy to characterize this heterogeneity in ASD is to cluster large-scale functional brain connectivity profiles.

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4. Wang J, Yu J, Wang M, Zhang L, Yang K, Du X, Wu J, Wang X, Li F, Qiu Z. Discovery and Validation of Novel Genes in a Large Chinese Autism Spectrum Disorder Cohort. Biological psychiatry. 2023; 94(10): 792-803.

BackgroundAutism spectrum disorder (ASD) is a neurodevelopmental disorder that causes impairments in social communication and stereotypical behaviors, often accompanied by developmental delay or intellectual disability. A growing body of evidence suggests that ASD is highly heritable, and genetic studies have defined numerous risk genes. However, most studies have been conducted with individuals of European and Hispanic ancestry, and there is a lack of genetic analyses of ASD in the East Asian population.

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5. St George-Hyslop F, Haneklaus M, Kivisild T, Livesey FJ. Loss of CNTNAP2 Alters Human Cortical Excitatory Neuron Differentiation and Neural Network Development. Biological psychiatry. 2023; 94(10): 780-91.

BackgroundLoss-of-function mutations in the contactin-associated protein-like 2 (CNTNAP2) gene are causal for neurodevelopmental disorders, including autism, schizophrenia, epilepsy, and intellectual disability. CNTNAP2 encodes CASPR2, a single-pass transmembrane protein that belongs to the neurexin family of cell adhesion molecules. These proteins have a variety of functions in developing neurons, including connecting presynaptic and postsynaptic neurons, and mediating signaling across the synapse.

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6. Ding Z, Huang G, Wang T, Duan W, Li H, Wang Y, Jia H, Yang Z, Wang K, Chu X, Kurtz-Nelson EC, Ahlers K, Earl RK, Han Y, Feliciano P, Chung WK, Eichler EE, Jiang M, Xiong B. Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice. Biological psychiatry. 2023; 94(10): 769-79.

BackgroundAutism spectrum disorder is characterized by deficits in social communication and restricted or repetitive behaviors. Due to the extremely high genetic and phenotypic heterogeneity, it is critical to pinpoint the genetic factors for understanding the pathology of these disorders.

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7. Cavanagh JF. Frontal Theta Helps to Explain Etiological Variability. Biological psychiatry. 2023; 94(10): 767-8.

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8. Hawrylycz M, Nickl-Jockschat T. Linking Neurogenetics and Functional Connectivity in Autism. Biological psychiatry. 2023; 94(10): 765-6.

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9. Tamada K, Takumi T. The East Asian–Specific Risk Genes in Autism Spectrum Disorder. Biological psychiatry. 2023; 94(10): 762-4.

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