1,599 results match your criteria: "Sackler Institute[Affiliation]"

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders with strong genetic heterogeneity and more prevalent in males than females. We and others hypothesize that diminished activity-dependent neural signaling is a common molecular pathway dysregulated in ASD caused by diverse genetic mutations. Brain-derived neurotrophic factor (BDNF) is a key growth factor mediating activity-dependent neural signaling in the brain.

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Investigating social orienting in children with Phelan-McDermid syndrome and 'idiopathic' autism.

J Neurodev Disord

November 2024

Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, De Crespigny Park, London, UK.

Background: Phelan-McDermid syndrome (PMS) is a rare genetic syndrome characterized by developmental delay/intellectual disability, absent or delayed speech, physical dysmorphic features and high rates of autistic features. However, it is currently unknown whether people with PMS have similar neurocognitive atypicalities to those previously identified in idiopathic autism. Disruption in social orienting has previously been suggested as an early hallmark feature of idiopathic autism that impacts social learning and social interaction.

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A global effort to benchmark predictive models and reveal mechanistic diversity in long-term stroke outcomes.

bioRxiv

November 2024

Groupe d'Imagerie Neurofonctionnelle, Institut des Maladies Neurodégénératives-UMR 5293, Centre national de la recherche scientifique (CNRS), CEA, University of Bordeaux, Bordeaux, France.

Stroke remains a leading cause of mortality and long-term disability worldwide, with variable recovery trajectories posing substantial challenges in anticipating post-event care and rehabilitation planning. In response, we established the NeuralCup consortium to address these challenges by benchmarking predictive models of stroke outcome through a collaborative, data-driven approach. This study presents the findings of 15 participating teams worldwide who used a comprehensive dataset including clinical and imaging data, to identify and compare predictors of motor, cognitive, and emotional outcomes one-year post-stroke.

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There is robust evidence implicating inhibitory deficits as a fundamental behavioural phenotype in children with attention-deficit/hyperactivity disorder (ADHD). However, prior studies have not directly investigated the role in which white matter properties within the fronto-basal-ganglia circuit may play in the development of inhibitory control deficits in this group. Combining recent advancements in brain-behavioural modelling, we mapped the development of stop-signal task (SST) performance and fronto-basal-ganglia maturation in a longitudinal sample of children aged 9-14 with and without ADHD.

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Background: Adolescence and early adulthood are pivotal stages for the onset of mental health disorders and the development of health behaviors. Digital behavioral activation interventions, with or without coaching support, hold promise for addressing risk factors for both mental and physical health problems by offering scalable approaches to expand access to evidence-based mental health support.

Objective: This 2-arm pilot randomized controlled trial evaluated 2 versions of a digital behavioral health product, Vira (Ksana Health Inc), for their feasibility, acceptability, and preliminary effectiveness in improving mental health in young adults with depressive symptoms and obesity risk factors.

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Microscopic marvels: Decoding the role of micropeptides in innate immunity.

Immunology

December 2024

Graduate Center, Programs in Biology, Biochemistry, Chemistry, City University of New York, New York, New York, USA.

Article Synopsis
  • The innate immune response evolves due to pressures from changing environments and pathogens, with a focus on how genes contribute to this adaptation, including the emergence and loss of genes.
  • Short open reading frames can produce micropeptides with various biological functions, showing a mix of conservation and unique, species-specific adaptations.
  • There's a lack of research on immune-related micropeptides, which are crucial for understanding immunity and could offer new avenues for disease treatment; this review aims to summarize current knowledge on their evolution and function.
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Impacts of Quaternary Climatic Changes on the Diversification of Riverine Cichlids in the Lower Congo River.

Integr Comp Biol

September 2024

Department of Ichthyology, American Museum of Natural History, 79th Street and Central Park West, NY 10024, USA.

Climatic and geomorphological changes during the Quaternary period impacted global patterns of speciation and diversification across a wide range of taxa, but few studies have examined these effects on African riverine fish. The lower Congo River is an excellent natural laboratory for understanding complex speciation and population diversification processes, as it is hydrologically extremely dynamic and recognized as a continental hotspot of diversity harboring many narrowly endemic species. A previous study using genome-wide SNP data highlighted the importance of dynamic hydrological regimes to the diversification and speciation in lower Congo River cichlids.

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The mechanisms underlying atypical sensory processing in autism remain to be elucidated, but research points toward a role of the glutamatergic/GABAergic balance. To investigate the potential relationships between visual sensitivity and its molecular correlates in autism, we combined data from electroencephalography (EEG) and magnetic resonance spectroscopy (MRS) studies. Twenty autistic adults and sixteen neurotypical adults (NT) participated in both an EEG study assessing visual sensitivity (Sapey-Triomphe et al.

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Article Synopsis
  • Rodent middens are piles of animal poop that can show us what plants and animals lived in an area a long time ago.
  • In the Americas, scientists study these middens to understand how species changed with the environment and other historical factors.
  • To get the most out of these studies and help with conservation efforts, researchers need to work together and explore more midden records from around the world.
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Sex hormones have biological effects on inflammation, and these might contribute to the sex-specific features of depression. C-reactive protein (CRP) is the most widely used inflammatory biomarker and consistent evidence shows a significant proportion (20-30 %) of patients with major depressive disorder (MDD) have CRP levels above 3 mg/L, a threshold indicating at least low-grade inflammation. Here, we investigate the interplay between sex hormones and CRP in the cross-sectional, observational Biomarkers in Depression Study.

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Animal models of depression show that acute stress negatively impacts functioning in neural regions sensitive to reward and punishment, often manifesting as anhedonic behaviors. However, few human studies have probed stress-induced neural activation changes in relation to anhedonia, which is critical for clarifying risk for affective disorders. Participants (N = 85, 12-14 years-old, 53 female), oversampled for risk of depression, were administered clinical assessments and completed an fMRI guessing task during a baseline (no-stress) period to probe neural response to receipt of rewards and losses.

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Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.

Hum Brain Mapp

January 2024

Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA.

Article Synopsis
  • 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion in humans, linked to reduced gray matter volume and neuropsychiatric issues like cognitive impairment and psychosis.
  • A study involving 783 participants (470 with 22q11DS and 313 controls) used advanced brain imaging techniques to identify specific patterns of gray matter volume covariance associated with this syndrome.
  • Results indicated that individuals with 22q11DS show unique structural brain abnormalities, particularly in the cerebellum, and these alterations follow distinct patterns rather than a widespread decline.
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Alexithymia in Adult Autism Clinic Service-Users: Relationships with Sensory Processing Differences and Mental Health.

Healthcare (Basel)

December 2023

Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, De Crespigny Park, London SE5 8AF, UK.

Mental health difficulties commonly co-occur with autism, especially in autistic people accessing clinic services, impacting substantially on quality-of-life. Alexithymia (difficulty describing/identifying feelings) and sensory processing differences are prevalent traits in autism that have been associated with depression/anxiety in autistic community samples. However, it is important to better understand interrelationships between these traits in clinical populations to improve identification of service-user needs.

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Background: Cross sectional studies have identified linguistic correlates of major depressive disorder (MDD) in smartphone communication. However, it is unclear whether monitoring these linguistic characteristics can detect when an individual is experiencing MDD, which would facilitate timely intervention.

Methods: Approximately 1.

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Background: Our study aims to understand whether depression, either in pregnancy or lifetime, affects cognitive biases (comprising the attentional focus and affective state) and mentalizing features (ability to understand children's internal mental states, thereby detecting and comprehending their behavior and intention), in maternal speech during mother-infant interaction in the first postnatal year.

Methods: We recruited 115 pregnant women (44 healthy, 46 with major depressive disorder [MDD] in pregnancy, and 25 with a history of MDD but healthy pregnancy) at 25 weeks' gestation. Three-minute videos were recorded at 8 weeks and 12 months postnatally for each dyad.

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Torpor or heterothermy is an energy-saving mechanism used by endotherms to overcome harsh environmental conditions. During winter, the garden dormouse (Eliomys quercinus) hibernates with multiday torpor bouts and body temperatures of a few degrees Celsius, interrupted by brief euthermic phases. This study investigates gene expression within the hypothalamus, the key brain area controlling energy balance, adding information on differential gene expression potentially relevant to orchestrate torpor.

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Background: Increased serum interleukin (IL)-33 predicts poor outcomes in patients hospitalised with coronavirus disease 2019 (COVID-19). We examined the efficacy and safety of tozorakimab, a monoclonal antibody that neutralises IL-33, in improving outcomes in ACCORD-2 (EudraCT: 2020-001736-95).

Methods: ACCORD-2 was an open-label, phase 2a study in adults hospitalised with COVID-19.

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Tens of millions of dried seahorses (genus Hippocampus) are traded annually, and the pressure from this trade along with their life history traits (involved parental care and small migration distances and home ranges) has led to near global population declines. This and other forms of overexploitation have led to all seahorse species being listed in Appendix II under the Convention on International Trade in Endangered Species of Wild Fauna and Flora (CITES). The signatory nations of CITES recommended a 10-cm size limit of seahorses to ensure harvested individuals have reached reproductive maturity, and have thus had the chance to produce offspring, to maintain a more sustainable global seahorse fishery.

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Poor response to methylphenidate is associated with a smaller dorsal attentive network in adult Attention-Deficit/Hyperactivity Disorder (ADHD).

Transl Psychiatry

September 2023

Sackler Institute of Translational Neurodevelopment, Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, SE5 8AF, London, UK.

Stimulants, such as methylphenidate (MPH), are effective in treating attention-deficit/hyperactivity disorder (ADHD), but there is individual variability in response, especially in adults. To improve outcomes, we need to understand the factors associated with adult treatment response. This longitudinal study investigated whether pre-treatment anatomy of the fronto-striatal and fronto-parietal attentional networks was associated with MPH treatment response.

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A paradigm shift in research culture is required to ease perceived tensions between autistic people and the biomedical research community. As a group of autistic and non-autistic scientists and stakeholders, we contend that through participatory research, we can reject a deficit-based conceptualization of autism while building a shared vision for a neurodiversity-affirmative biomedical research paradigm.

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Examining the latent structure and correlates of sensory reactivity in autism: a multi-site integrative data analysis by the autism sensory research consortium.

Mol Autism

August 2023

Department of Hearing and Speech Sciences, Vanderbilt University Medical Center, 1215 21st Avenue South, Medical Center East, South Tower, Room 8310, Nashville, TN, 37232, USA.

Article Synopsis
  • The study examined how autistic individuals respond to sensory stimuli, focusing on three main traits: hyperreactivity (HYPER), hyporeactivity (HYPO), and sensory seeking (SEEK).
  • Using data from 3,868 autistic youth, the researchers applied advanced statistical methods to explore the relationships between these traits across different sensory modalities.
  • Results showed that while a general pattern of HYPER responses could be validated, HYPO responses were less consistent, and SEEK had a more limited version, indicating that sensory responses in autism vary significantly and require nuanced assessment.
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Pervasive purifying selection on non-synonymous substitutions is a hallmark of papillomavirus genome history, but the role of selection on and the drift of non-coding DNA motifs on HPV diversification is poorly understood. In this study, more than a thousand complete genomes representing types, lineages, and SNP variants were examined phylogenetically and interrogated for the number and position of non-coding DNA sequence motifs using Principal Components Analyses, Ancestral State Reconstructions, and Phylogenetic Independent Contrasts. For anciently diverged types, composition of the four nucleotides (A, C, G, T), codon usage, trimer usage, and 13 established non-coding DNA sequence motifs revealed phylogenetic clusters consistent with genetic drift.

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Early life adversity (ELA) heightens the risk for anxiety disorders (which are characterized by heightened fear and avoidance behaviors), with females being twice as likely as males to develop pathology. Pavlovian fear conditioning tasks have been used to study possible mechanisms supporting endophenotypes of pathology. Identification of sex and ELA selective effects on the nature of behavioral responding in these paradigms may provide a unique window into coping strategies in response to learned fear to guide more mechanistic studies.

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