Article
Genetics & Heredity
Stephen F. Pastore, Sangyoon Y. Ko, Paul W. Frankland, Paul A. Hamel, John B. Vincent
Summary: Studies on copy number variation and whole-genome sequencing in the past one and a half decades have revealed significant genetic heterogeneity underlying autism spectrum disorder (ASD) and intellectual disability (ID). This review focuses on the identification and neurobiological characterization of two key genes, PTCHD1 and PTCHD1-AS, located in Xp22.11. Animal models and patient-derived induced pluripotent stem cells have been used to study the role of these genes in ASD etiology, highlighting their importance in understanding the genetic and biological mechanisms of ASD and ID.
Article
Developmental Biology
Tammy R. Chaudoin, Stephen J. Bonasera, Anna Dunaevsky, Ragunathan Padmashri
Summary: Fetal alcohol spectrum disorders (FASDs) are a leading cause of developmental abnormalities globally, resulting from maternal alcohol consumption during pregnancy. This study aimed to investigate the effects of prenatal alcohol exposure (PAE) on behavioral phenotypes in adolescent and adult male and female offspring using a mouse model. The results showed that chronic low-level PAE led to altered body composition, deficits in motor skill learning, hyperactivity in females, increased reactivity to acoustic stimuli, and disrupted short-term habituation. Overall, this study demonstrates the behavioral impairments caused by chronic low-level alcohol exposure in utero.
DEVELOPMENTAL NEUROBIOLOGY
(2023)
Review
Psychiatry
Leila Glass, Eileen M. Moore, Sarah N. Mattson
Summary: This review summarizes recent findings on the prevalence, public health impact, clinical presentation, intervention access, and conceptualization of fetal alcohol spectrum disorders (FASDs). Despite ongoing efforts in prevention and identification, the rates of drinking during pregnancy have increased, and there are significant gaps in diagnosis and intervention.
CURRENT OPINION IN PSYCHIATRY
(2023)
Article
Pharmacology & Pharmacy
Shao-yu Chen, Maharajan Kannan
Summary: Fetal alcohol spectrum disorders (FASD) are preventable birth defects caused by prenatal alcohol exposure, resulting in a range of cognitive, behavioral, emotional, and functioning deficits. This review examines the detrimental effects of ethanol on neural crest cells (NCCs) during embryonic development and explores the molecular mechanisms involved. It also discusses potential therapeutic strategies for mitigating the effects of ethanol on NCCs and reducing the risk of FASD.
PHARMACOLOGICAL RESEARCH
(2023)
Article
Genetics & Heredity
Sandra Martin Lorenzo, Valerie Nalesso, Claire Chevalier, Marie-Christine Birling, Yann Herault
Summary: This study identifies Kctd13 as one target gene causing cognitive deficits in patients with 16p11.2 deletion, and highlights the therapeutic potential of the RHOA pathway for 16p11.2 deletion. Treatment in mouse models led to improvements in learning and memory, but limitations such as short-term rescue effects were also observed.
Article
Chemistry, Analytical
Dathan C. Gleichmann, John F. L. Pinner, Christopher Garcia, Jaynie H. Hakeem, Piyadasa Kodituwakku, Julia M. Stephen
Summary: Prior studies have shown differences in brain volume and neurophysiological responses between musicians and non-musicians. This study investigates the effects of short-term music training on children with a fetal alcohol spectrum disorder (FASD), and found that music training can change the neural indices of attention in these children.
Review
Neurosciences
Bonnie Alberry, Benjamin I. Laufer, Eric Chater-Diehl, Shiva M. Singh
Summary: Neurodevelopment in humans involves prenatal and postnatal stages, where the brain is sensitive to environmental inputs. Fetal alcohol spectrum disorders (FASD) result from prenatal alcohol exposure, potentially affecting gene regulation via epigenetic marks. Postnatal neurodevelopment is also sensitive to environmental conditions, with early life stress impacting behavioral outcomes. Studies have shown that prenatal alcohol exposure and maternal separation stress can lead to epigenomic and transcriptomic alterations, affecting specific gene sets and regulatory regions. Therapeutic interventions focusing on gene regulation and epigenetic management may improve neurodevelopmental outcomes in children with FASD.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2021)
Review
Pharmacology & Pharmacy
Amena Alsakran, Tetsuhiro Kudoh
Summary: Fetal alcohol spectrum disorders caused by elevated alcohol levels in pregnant mothers lead to symptoms such as microcephaly and cardiac defects. Zebrafish embryos provide an ideal model system to study the effects of alcohol on cell migration and brain development, serving as convenient biomarkers for toxicity research and investigation of molecular pathways in brain development.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Immunology
Nikhitha Sreenivas, Michael Maes, Hansashree Padmanabha, Apoorva Dharmendra, Priyanka Chakkera, Saptamita Paul Choudhury, Fazal Abdul, Thrinath Mullapudi, Vykuntaraju K. Gowda, Michael Berk, John Vijay Sagar Kommu, Monojit Debnath
Summary: Neurodevelopmental disorders (NDDs) are a spectrum of conditions with both common and differing characteristics in terms of phenome, symptomatome, neuropathology, risk factors and underlying mechanisms. This study investigates the possibility of a shared immune etiology among three early-onset NDDs, namely Autism Spectrum Disorder (ASD), Attention Deficit Hyperactivity Disorder (ADHD) and Intellectual Disability Disorder (IDD).
BRAIN BEHAVIOR AND IMMUNITY
(2024)
Review
Biochemistry & Molecular Biology
Sarah Larrigan, Sujay Shah, Alex Fernandes, Pierre Mattar
Summary: During brain development, the genome is repeatedly reconfigured to aid neuronal and glial differentiation, with a range of chromatin remodeling complexes facilitating the process. The non-redundancy of these complexes suggests a need for a variety of remodelers with different specificities and activities in neurodevelopment. The nucleosome remodeling and deacetylase (NuRD) complex plays a key role in the biochemistry, genetics, and functions of neural progenitors and neurons.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Neurosciences
Olivia R. Gutherz, Maya Deyssenroth, Qian Li, Ke Hao, Joseph L. Jacobson, Jia Chen, Sandra W. Jacobson, R. Colin Carter
Summary: Research has shown that prenatal alcohol exposure can lead to epigenetic changes in imprinted genes, potentially affecting the development of individuals with FASD and providing new targets for early intervention.
EXPERIMENTAL NEUROLOGY
(2022)
Article
Neurosciences
Sandra Martin Lorenzo, Maria del Mar Muniz Moreno, Helin Atas, Marion Pellen, Valerie Nalesso, Wolfgang Raffelsberger, Geraldine Prevost, Loic Lindner, Marie-Christine Birling, Severine Menoret, Laurent Tesson, Luc Negroni, Jean-Paul Concordet, Ignacio Anegon, Yann Herault
Summary: Copy number variations (CNVs) of the human 16p11.2 locus are associated with developmental/neurocognitive syndromes. Mouse and rat models with deletion and duplication of the 16p11.2 genetic interval showed social behavior defects. Major pathways affecting MAPK1 and CUL3 were altered in rat models, with sexual dimorphism observed.
FRONTIERS IN NEUROSCIENCE
(2023)
Editorial Material
Psychiatry
Andre Strydom, Elizabeth Corcoran, Anne-Sophie Rebillat
Summary: The article explores whether individuals with neurodevelopment disorders have been overlooked during the COVID-19 pandemic, and highlights issues that need to be addressed in response to future health crises and pandemics.
BRITISH JOURNAL OF PSYCHIATRY
(2021)
Article
Genetics & Heredity
Eline A. Verberne, Shuxiang Goh, Jade England, Manon van Ginkel, Louise Rafael-Croes, Saskia Maas, Abeltje Polstra, Yuri A. Zarate, Katherine A. Bosanko, Kieran B. Pechter, Emma Bedoukian, Kosuke Izumi, Ayeshah Chaudhry, Nathaniel H. Robin, Megan Boothe, Natalie C. Lippa, Vimla Aggarwal, Darryl C. De Vivo, Anna Lehman, Sylvia Stockler, Ange-Line Bruel, Bertrand Isidor, Jennifer Lemons, David F. Rodriguez-Buritica, Christopher M. Richmond, Zornitza Stark, Pankaj B. Agrawal, R. Frank Kooy, Marije E. C. Meuwissen, David A. Koolen, Rolf Pfundt, Agne Lieden, Britt-Marie Anderlid, Dagmar Glatz, Marcel M. A. M. Mannens, Madhura Bakshi, Frederick A. Mallette, Mieke M. van Haelst, Philippe M. Campeau
Summary: This study confirms JARID2 as a human disease gene and further elucidates the associated clinical phenotype. Results from 16 individuals suggest that deletions or variants in JARID2 may lead to developmental delay and/or intellectual disability.
GENETICS IN MEDICINE
(2021)
Review
Neurosciences
Siara Kate Rouzer, Jessica Gutierrez, Kirill V. Larin, Rajesh C. Miranda
Summary: This review paper examines the combined exposure of alcohol and marijuana during pregnancy and their effects on fetal neurodevelopment. Both substances have independent lifelong impacts on neurodevelopment. The simultaneous use of alcohol and cannabinoids by individuals of child-bearing age enhances the pharmacodynamic effects of each drug and increases craving. However, there is limited research on prenatal polysubstance use in both human and non-human populations. The paper discusses the current understanding of combined exposure, identifies prenatal targets from single-exposure studies, and highlights the importance of considering and designing future preclinical studies on simultaneous alcohol and cannabinoid use.
EXPERIMENTAL NEUROLOGY
(2023)
Article
Behavioral Sciences
Bonnie Alberry, Shiva M. Singh
BEHAVIOURAL BRAIN RESEARCH
(2016)
Review
Genetics & Heredity
Gwyneth Zai, Bonnie Alberry, Janine Arlothn, Zsofia Banlaki, Cristina Bares, Erik Boot, Caroline Camilo, Kartikay Chadha, Qi Chen, Christopher B. Cole, Katherine T. Cost, Megan Crow, Ibene Ekpor, Sascha B. Fischer, Laura Flatau, Sarah Gagliano, Umut Kirli, Prachi Kukshal, Viviane Labrie, Maren Lang, Tristram A. Lett, Elisabetta Maffioletti, Robert Maier, Marina Mihaljevic, Kirti Mittal, Eric T. Monson, Niamh L. O'Brien, Soren D. Ostergaard, Ellen Ovenden, Sejal Patel, Roseann E. Peterson, Jennie G. Pouget, Diego L. Rovaris, Lauren Seaman, Bhagya Shankarappa, Fotis Tsetsos, Andrea Vereczkei, Chenyao Wang, Khethelo Xulu, Ryan K. C. Yuen, Jingjing Zhao, Clement C. Zai, James L. Kennedy
PSYCHIATRIC GENETICS
(2016)
Article
Multidisciplinary Sciences
Eric J. Chater-Diehl, Benjamin I. Laufer, Christina A. Castellani, Bonnie L. Alberry, Shiva M. Singh
Review
Genetics & Heredity
Morgan L. Kleiber, Eric J. Diehl, Benjamin I. Laufer, Katarzyna Mantha, Aniruddho Chokroborty-Hoque, Bonnie Alberry, Shiva M. Singh
FRONTIERS IN GENETICS
(2014)
Article
Biochemistry & Molecular Biology
Eric Chater-Diehl, Dustin Sokolowski, Bonnie Alberry, Shiva M. Singh
BIOCHEMISTRY AND CELL BIOLOGY
(2019)
Letter
Medicine, General & Internal
Bonnie Alberry, Shiva M. Singh
CANADIAN MEDICAL ASSOCIATION JOURNAL
(2019)
Article
Genetics & Heredity
Bonnie L. J. Alberry, Shiva M. Singh
FRONTIERS IN GENETICS
(2020)
Article
Clinical Neurology
Bonnie L. J. Alberry, Christina A. Castellani, Shiva M. Singh
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
(2020)