Article
Neurosciences
Emily K. Schworer, Emily K. Hoffman, Anna J. Esbensen
Summary: This study evaluated the psychometric properties of standardized measurements of social cognition and behavior for potential use as outcome measures for children and adolescents with Down syndrome. Results showed that while all measures met criteria for some psychometric indices, there were feasibility limitations and problematic floor effects identified for certain subtests. The Social Responsiveness Scale, Second Edition (SRS-2) was found to be high in feasibility, with moderate to excellent test-retest reliability, and no practice effects, making it a suitable measure for use in clinical trials with youth with DS.
Article
Neurosciences
Ashley Emily Siegel, Diana W. W. Bianchi, Faycal Guedj
Summary: This study used rodent touchscreen paradigms to investigate learning deficits in mouse models of Down syndrome (DS). The Dp(16)1/Yey and Ts1Cje models showed learning deficits in visual discrimination (VD), with the Dp(16)1/Yey model exhibiting more pronounced deficits. Both models also displayed compulsive behavior and abnormal cortical inhibitory control during Extinction. The findings highlight the importance of mouse genetic background and absence of hyperactive behavior in successful learning in touchscreen testing.
JOURNAL OF NEUROSCIENCE RESEARCH
(2023)
Article
Behavioral Sciences
Osama Hamadelseed, Thomas Skutella
Summary: In this study, magnetic resonance imaging (MRI) was used to examine the brain structures of individuals with Down syndrome (DS). The results showed that deficits in memory and language skills in people with DS are related to reduced volumes of specific brain regions. These findings provide important insights into the cognitive-behavioral phenotype of DS.
BRAIN AND BEHAVIOR
(2023)
Review
Nutrition & Dietetics
Carmen Martinez-Cue, Renata Bartesaghi
Summary: Down syndrome (DS) is a genetic disorder caused by the triplication of chromosome 21, resulting in intellectual disability starting in utero and continuing through infancy, with associated impairments in neurogenesis and connectivity that may lead to early-onset Alzheimer's disease. Current research focuses on using DS mouse models to discover potential pharmacotherapies, with fatty acids emerging as a promising treatment option for DS-related cognitive deficits and neurodevelopmental impairments. This suggests a need for further exploration of the potential benefits of fatty acids for individuals with DS.
Article
Psychology, Multidisciplinary
Isabel Neitzel
Summary: Narrative abilities are an important aspect of everyday life and social interaction, but they can be challenging for individuals with language and cognitive impairment, such as those with Down syndrome. This study aimed to describe the individual narrative profiles of 28 children and adolescents with Down syndrome. The results highlighted the presence of narrative impairments in many individuals, while also identifying individual strengths and weaknesses. Furthermore, the study suggested that narrative abilities may be representative of overall language and cognition in individuals with Down syndrome.
FRONTIERS IN PSYCHOLOGY
(2023)
Article
Pharmacology & Pharmacy
Veronica Vidal, Alba Puente, Susana Garcia-Cerro, Maria Teresa Garcia Unzueta, Noemi Rueda, Javier Riancho, Carmen Martinez-Cue
Summary: All individuals with Down syndrome eventually develop Alzheimer's disease neuropathology, without any effective treatment available. The potential therapeutic use of bexarotene in treating AD neuropathology in DS population remains controversial, as chronic treatment with bexarotene in Ts65Dn (TS) mice may lead to cognitive decline and reduced cognitive abilities, suggesting it may not be a viable treatment option.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Education, Special
Laurits Munk Hojberg, Jesper Lundbye-Jensen, Jacob Wienecke
Summary: This study aimed to investigate how young adults with Down syndrome (DS) learn and retain new motor skills. The results showed that individuals with DS had poorer motor performance compared to typically developed individuals. However, they demonstrated online improvements in performance with practice and showed offline consolidation, leading to significant retention effects.
RESEARCH IN DEVELOPMENTAL DISABILITIES
(2023)
Article
Clinical Neurology
Marie Moore Channell, Laura J. Mattie, Debra R. Hamilton, George T. Capone, E. Mark Mahone, Stephanie L. Sherman, Tracie C. Rosser, Roger H. Reeves, Luther G. Kalb
Summary: This study used the Down Syndrome Cognition Project database to identify three classes of cognitive and behavioral profiles among individuals with Down syndrome. The largest normative class displayed consistent cognition and adaptive behavior, while the cognitive class showed lower scores and more autism symptomatology. The smallest behavioral class exhibited higher rates of maladaptive behavior and autism symptomatology, but similar cognition levels to the normative class. Gender and household income were the only demographic variables to differ among classes.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
(2021)
Editorial Material
Biology
Pamela Lyon, Fred Keijzer, Detlev Arendt, Michael Levin
Summary: The theme issue advocates for cognitive sciences to align with the rest of life sciences, introducing the concept of basal cognition to understand how lower organisms familiarize with ecological niches and how this can aid in understanding cognition in evolved organisms. By proposing a working definition of cognition and a behavior-generating toolkit, a multidisciplinary approach is suggested for comprehending cognition across different biological organizations.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2021)
Article
Genetics & Heredity
Cecile Cieuta-Walti, Aida Cuenca-Royo, Klaus Langohr, Claire Rakic, Ma Angeles Lopez-Vilchez, Julian Lirio, Domingo Gonzalez-Lamuno Leguina, Teresa Bermejo Gonzalez, Jordi Garcia Garcia, Maria Rimblas Roure, Ana Aldea-Perona, Laura Forcano, Maria Gomis-Gonzalez, Sebastia Videla Ces, Florence Lacaille, Aime Ravel, Clotilde Mircher, Herve Walti, Nathalie Janel, Julien Dairou, Marilyne Levy, Sophie Durand, Mara Dierssen, Silvia Sacco, Rafael de la Torre Fornell
Summary: This study evaluated the safety and tolerability of epigallocatechin gallate (EGCG) in children with Down syndrome (DS) and examined its effects on cognitive function and functionality. The results indicated that EGCG was safe and well-tolerated in children with DS, but did not show improvement in cognitive and functional performance.
GENETICS IN MEDICINE
(2022)
Article
Behavioral Sciences
Amanallah Soltani, Emily K. Schworer, Raouf Amin, Emily K. Hoffman, Anna J. Esbensen
Summary: This study aimed to investigate the association between obstructive sleep apnea (OSA) and language, executive functioning, behavioral, social abilities, and sleep problems in youth with Down syndrome (DS) aged 6 to 17 years. The findings showed that participants with untreated OSA had lower scores in expressive and receptive vocabulary, as well as executive functions, everyday memory, attention, internalizing and externalizing behavior, social behavior, and sleep problems compared to those with treated OSA and no OSA. However, only the group differences for executive function (emotional regulation) and internalizing behavior were statistically significant.
JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
(2023)
Article
Education, Special
E. K. Schworer, D. J. Fidler, M. Kaur, A. W. Needham, M. A. Prince, L. A. Daunhauer
Summary: This study found that infants with Down syndrome (DS) show atypical performance in visual engagement and action planning compared to typically developing (TD) infants, and attention shifting at an early age predicts later EF performance in the DS group.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
(2022)
Article
Chemistry, Medicinal
Aneela Gohar, Gowhar Ali, Umer Rashid, Khalid Rauf, Mehreen Arif, Muhammad Sona Khan, Yasser M. S. A. Alkahramaan, Robert D. E. Sewell
Summary: This study evaluated the effects of GBP1F, a complex of fluoxetine and gabapentin, on locomotor activity, anxiety, depression-like behavior, and cognitive behavior in mice. The results showed that GBP1F mildly suppressed locomotor activity, improved anxiety and depression-like behavior, had no effect on cognitive behavior, and increased serotonin and 5-HIAA concentrations in the hippocampus and striatum, as well as dopamine and vitamin C levels in the striatum. Thus, GBP1F has anxiolytic and antidepressant-like effects, but further studies are needed to investigate its precise mechanism of action.
DRUG DESIGN DEVELOPMENT AND THERAPY
(2023)
Article
Psychology, Multidisciplinary
Elisa Fuca, Floriana Costanzo, Luciana Ursumando, Laura Celestini, Vittorio Scoppola, Silvia Mancini, Diletta Valentini, Alberto Villani, Stefano Vicari
Summary: Sleep difficulties have detrimental effects on the cognitive and behavioral outcomes of preschool-age children with Down Syndrome (DS). This study found an association between sleep disturbances and emotional and behavioral problems in this population.
FRONTIERS IN PSYCHOLOGY
(2022)
Article
Clinical Neurology
Laura Videla, Bessy Benejam, Maria Carmona-Iragui, Isabel Barroeta, Susana Fernandez, Javier Arranz, Sumia Elbachiri Azzahchi, Miren Altuna, Concepcion Padilla, Silvia Valldeneu, Jordi Pegueroles, Victor Montal, Mateus Rozalem Aranha, Lidia Vaque-Alcazar, Maria Florencia Iulita, Daniel Alcolea, Alexandre Bejanin, Sebastia Videla, Rafael Blesa, Alberto Lleo, Juan Fortea
Summary: This study compares the performance of baseline and longitudinal neuropsychological assessments for the diagnosis of symptomatic Alzheimer's disease (AD) in individuals with Down syndrome (DS). The results show that baseline assessments have better diagnostic performance for AD dementia and prodromal AD than the 1-year intra-individual cognitive decline. Longer follow-up periods improve the diagnostic performance of intra-individual cognitive decline.
ALZHEIMERS & DEMENTIA
(2023)
Review
Neurosciences
Carmen Martinez-Cue, Noemi Rueda
FRONTIERS IN CELLULAR NEUROSCIENCE
(2020)
Article
Nutrition & Dietetics
Susana Garcia-Cerro, Noemi Rueda, Veronica Vidal, Alba Puente, Victor Campa, Sara Lantigua, Oriol Narcis, Ana Velasco, Renata Bartesaghi, Carmen Martinez-Cu
JOURNAL OF NUTRITION
(2020)
Article
Neurosciences
Daniel Boloc, Natalia Rodriguez, Teresa Torres, Susana Garcia-Cerro, Mara Parellada, Jeronimo Saiz-Ruiz, Manuel J. Cuesta, Miquel Bernardo, Patricia Gasso, Amalia Lafuente, Sergi Mas, Joan Albert Arnaiz
PSYCHOPHARMACOLOGY
(2020)
Article
Nutrition & Dietetics
Noemi Rueda, Veronica Vidal, Susana Garcia-Cerro, Alba Puente, Victor Campa, Sara Lantigua, Oriol Narcis, Renata Bartesaghi, Carmen Martinez-Cue
JOURNAL OF NUTRITION
(2020)
Review
Biochemistry & Molecular Biology
Carmen Martinez-Cue, Noemi Rueda
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2020)
Article
Neurosciences
Veronica Vidal, Susana Garcia-Cerro, Noemi Rueda, Alba Puente, Renata Bartesaghi, Carmen Martinez-Cue
Summary: The study aimed to evaluate the ability of oleic and linolenic acid to restore the defects in neurogenesis and synaptogenesis in the early postnatal stages of a mouse model of Down syndrome. The results suggest that early administration of oleic acid could alleviate the cognitive deficits in individuals with Down syndrome.
NUTRITIONAL NEUROSCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Alba Puente-Bedia, Maria T. Berciano, Olga Tapia, Carmen Martinez-Cue, Miguel Lafarga, Noemi Rueda
Summary: Down syndrome is characterized by cognitive impairments, which may be due to defective neurogenesis and abnormal neuronal populations. In the TS mouse model of DS, the triplication of Hsa21 orthologous genes leads to alterations in the nuclear architecture of hippocampal granular cells, potentially contributing to cognitive dysfunction.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Pharmacology & Pharmacy
Veronica Vidal, Alba Puente, Susana Garcia-Cerro, Maria Teresa Garcia Unzueta, Noemi Rueda, Javier Riancho, Carmen Martinez-Cue
Summary: All individuals with Down syndrome eventually develop Alzheimer's disease neuropathology, without any effective treatment available. The potential therapeutic use of bexarotene in treating AD neuropathology in DS population remains controversial, as chronic treatment with bexarotene in Ts65Dn (TS) mice may lead to cognitive decline and reduced cognitive abilities, suggesting it may not be a viable treatment option.
FRONTIERS IN PHARMACOLOGY
(2021)
Review
Nutrition & Dietetics
Carmen Martinez-Cue, Renata Bartesaghi
Summary: Down syndrome (DS) is a genetic disorder caused by the triplication of chromosome 21, resulting in intellectual disability starting in utero and continuing through infancy, with associated impairments in neurogenesis and connectivity that may lead to early-onset Alzheimer's disease. Current research focuses on using DS mouse models to discover potential pharmacotherapies, with fatty acids emerging as a promising treatment option for DS-related cognitive deficits and neurodevelopmental impairments. This suggests a need for further exploration of the potential benefits of fatty acids for individuals with DS.
Review
Psychology, Developmental
Nathalia Garrido-Torres, Karem Guzman-Torres, Susana Garcia-Cerro, Gladys Pinilla Bermudez, Claudia Cruz-Baquero, Hansel Ochoa, Diego Garcia-Gonzalez, Manuel Canal-Rivero, Benedicto Crespo-Facorro, Miguel Ruiz-Veguilla
Summary: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social interaction deficiencies, restricted interests, and repetitive behaviors. MicroRNAs (miRs/miRNAs) are implicated in the development of ASD, with miR-451a being the most relevant marker for impaired social interaction. Other dysregulated miRNAs, such as miR-19a-3p, miR-494, and miR-142-3p, are expressed differently in various tissues and body fluids of ASD patients, suggesting their potential as biomarkers. Saliva is considered the optimal biological fluid for miRNA measurements due to its easy collection from children.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
(2023)
Article
Pediatrics
Nathalia Garrido-Torres, Lucas Cerrillos, Susana Garcia Cerro, Alberto Perez Gomez, Manuel Canal-Rivero, Beatriz de Felipe, Luis Alameda, Renata Marques Rodriguez, Sergio Anillo, Julia Praena, Cristina Duque Sanchez, Cristina Roca, Maria Paniagua, Alvaro Lopez Diaz, Rafael Romero-Garcia, Peter Olbrich, Martin de Porres Puertas Albarracin, Pablo Reguera Pozuelo, Irene Lujan Sosa, Maria Begona Moreno Duenas, Rocio Pineda Cachero, Lidia Zamudio Juan, Veronica Garcia Rumi, Mercedes Guerrero Benitez, Rosario Figueroa, Antonio Manuel Martin Rendon, Antonio Partida, Maria Isabel Rodriguez Cocho, Carmen Gallardo Trujillo, Isabel Gallego Jimenez, Sarah Garcia Spencer, Marta Gomez Verdugo, Cintia Bermejo Fernandez, Maria Perez Benito, Rafael Esteban Castillo Reina, Angela Cejudo Lopez, Candela Sanchez Tomas, Maria Angeles Chacon Gamero, Ana Rubio, Amanda Moreno Mellado, Victor Ramos Herrero, Ella Starr, Marta Gonzalez Fernandez de Palacios, Elena Garcia Victori, Antonio Pavon Delgado, Ismael Fernandez Cuervo, Alejandro Arias Ruiz, Irene Esperanza Menendez Gil, Ines Dominguez Gomez, Itziar Coca Mendoza, Rosa Ayesa-Arriola, Lourdes Fananas, Juan C. Leza, Jose M. Cisneros, Javier Sanchez Cespedes, Ezequiel Ruiz-Mateos, Benedicto Crespo-Facorro, Miguel Ruiz-Veguilla
Summary: The COVID-19 pandemic provides an important opportunity for studying the pathophysiological mechanisms of neuropsychiatric diseases. This study focuses on investigating the relationship between inflammation, brain development, and the increased risk of neuropsychiatric disorders in newborns with prenatal SARS-CoV-2 infection. The study involves monitoring pregnant women and collecting biological samples before and after childbirth. The findings from this study will contribute to our understanding of the impact of COVID-19 on maternal and newborn health.
FRONTIERS IN PEDIATRICS
(2022)
Article
Biochemistry & Molecular Biology
Alba Puente-Bedia, Maria T. Berciano, Carmen Martinez-Cue, Miguel Lafarga, Noemi Rueda
Summary: Hippocampal granule cells in Ts65Dn mice exhibit important oxidative stress-associated alterations, including DNA damage, abnormalities in the proteasome and lysosomal systems, and mitochondrial structural defects. These changes may contribute to cellular senescence, accelerated aging, neurodegenerative diseases, and early development of Alzheimer's pathology.
Article
Neurosciences
Yang He, Jun Tang, Meng Zhang, Junjie Ying, Dezhi Mu
Summary: This study investigated the protective effects and mechanisms of human placenta derived mesenchymal stem cells (hPMSCs) transplantation in a rat model of hypoxic-ischemic encephalopathy (HIE). The results showed that hPMSCs transplantation reduced apoptosis and improved long-term neurological prognosis. Furthermore, the downregulation of Sema 3A/NRP-1 expression and activation of the PI3K/Akt/mTOR signaling pathway played a key role in the protective effects of hPMSCs.
Article
Neurosciences
Emily L. Isenstein, Edward G. Freedman, Jiayi Xu, Ian A. DeAndrea-Lazarus, John J. Foxe
Summary: This study evaluated electrophysiological discrimination of parametric somatosensory stimuli in healthy young adults to understand how the brain processes the duration of tactile information. The results showed that participants did not electrophysiologically discriminate between 100 and 115 ms, but they exhibited distinct electrophysiological responses when the deviant stimuli were 130, 145, and 160 ms. These findings contribute to a better understanding of tactile sensitivity in different clinical conditions.
Article
Neurosciences
Juliana R. Souza, Ludmila Lima-Silveira, Daniela Accorsi-Mendonca, Benedito H. Machado
Summary: This study demonstrates that A2A receptors play a crucial role in modulating synaptic transmission in the NTS neurons and are required for the enhancement of glutamatergic transmission observed under short-term sustained hypoxia conditions.
Article
Neurosciences
Miki Hashizume, Rina Ito, Rie Suge, Yasushi Hojo, Gen Murakami, Takayuki Murakoshi
Summary: The basolateral amygdaloid complex (BLA) is closely involved in the formation of emotional memories, including both aversive memory and contextual fear memory. Acute sleep deprivation (SD) disrupts the acquisition of tone-associated fear memory in juvenile rats, but has no significant effect on contextual fear memory. Slow network oscillation in the amygdala contributes to the formation of amygdala-dependent fear memory in relation to sleep.
Article
Neurosciences
Qunxian Wang, Shipeng Guo, Dongjie Hu, Xiangjun Dong, Zijun Meng, Yanshuang Jiang, Zijuan Feng, Weihui Zhou, Weihong Song
Summary: GSDME plays a crucial role in the pathogenesis of Alzheimer's disease by regulating the switch from apoptosis to pyroptosis and participating in neuroinflammatory response. Knockdown of GSDME has been shown to improve cognitive impairments, indicating that GSDME could be a therapeutic target for Alzheimer's disease.