Review
Neurosciences
Jenny Szu, Alexandre Wojcinski, Peng Jiang, Santosh Kesari
Summary: The Olig genes encode a family of transcription factors that play crucial roles in regulating cellular specification and differentiation in the central nervous system. Studies have shown that Olig1 and Olig2 are important for directing the formation of neurons and glial cells at different stages of development. Recent research has linked Olig2 overexpression to neurodevelopmental disorders such as DS and ASD, but its effects on cognitive and intellectual defects are still unclear.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Pediatrics
Seema King, Colleen Burns, Brent Symes, ShawnaLee Jessiman, Amber Bell, Hasu Rajani
Summary: This study develops a virtual model for the assessment and diagnosis of fetal alcohol spectrum disorder (FASD) in children. It evaluates the functionality of this model with other national and international FASD diagnostic teams and caregivers of children being assessed for FASD.
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
Genetics & Heredity
Joseph Nicho Gonzalez, Sylvie Goldman, Melissa T. Carter, Jennifer M. Bain
Summary: Rett Syndrome is a neurodevelopmental disorder characterized by developmental regression, hand skills loss, gait abnormalities, and speech loss. Most cases are caused by mutations in the MECP2 gene. Atypical Rett Syndrome is diagnosed when some, but not all, of the classic Rett Syndrome features are present.
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
Medicine, General & Internal
A. Oyarzabal, U. Musokhranova, L. F. Barros, A. Garcia-Cazorla
Summary: This review discusses the physiological brain energetics at prenatal, neonatal, and childhood stages, as well as the main groups of inborn errors of energy metabolism affecting the brain. The lack of basic neuroscience research in this field hinders the opportunity for these disorders to provide paradigms of energy utilization during neurodevelopment, but understanding the mechanisms of brain energy disturbance precisely can pave the way for metabolic modulation therapies.
Article
Medicine, General & Internal
Benedikt Sundermann, Reinhold Feldmann, Christian Mathys, Johanna M. H. Rau, Stefan Garde, Anna Braje, Josef Weglage, Bettina Pfleiderer
Summary: This study used rs-fMRI to assess the functional connectivity (FC) in cognition-related networks of young adults with Fetal Alcohol Syndrome (FAS). The results showed altered FC globally, within 7 out of 10 networks, and between networks in FAS participants compared to controls, with the most significant changes seen in attention-related network components.
Review
Cell Biology
Lauren A. Poppi, Khue Tu Ho-Nguyen, Anna Shi, Cynthia T. Daut, Max A. Tischfield
Summary: Cholinergic interneurons in the striatum play crucial roles in various neurodevelopmental, neurodegenerative, and neuropsychiatric disorders. Re-examining the dysfunction of these interneurons may provide key insights into underlying pathogeneses. Future studies can explore the function and connectivity of striatal cholinergic interneurons using new tools and approaches to better understand the mechanisms of related disorders.
Article
Genetics & Heredity
Elizabeth Pierpont, Daniel L. Kenney-Jung, Ryan Shanley, Abigail L. Zatkalik, Ashley E. Whitmarsh, Samuel J. Kroening, Amy E. Roberts, Martin Zenker
Summary: This study evaluated the neurological and neurodevelopmental features of patients with CFC syndrome and found that gene variants were associated with abnormal EEGs and neurodevelopmental impairments.
GENETICS IN MEDICINE
(2022)
Article
Clinical Neurology
Eliza Honybun, Rebecca Thwaites, Charles B. Malpas, Genevieve Rayner, Alison Anderson, Janet Graham, Alison Hitchcock, Terence J. O'Brien, Frank J. E. Vajda, Piero Perucca
Summary: In this study, prenatal exposure to VPA was found to offset the usual male sex-related predominance in the incidence of ASD. Males exposed to other AEDs had higher ASD symptoms, while this typical sex dynamic was not evident in VPA-exposed children. No dose-response relationship was found between VPA exposure and ASD symptoms.
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
Genetics & Heredity
Christian A. E. Westrip, Franziska Paul, Fathiya Al-Murshedi, Hashim Qaitoon, Breana Cham, Sally C. Fletcher, Eline Hendrix, Uncaar Boora, Alvin Yu Jin Ng, Carine Bonnard, Maryam Najafi, Salem Alawbathani, Imelda Lambert, Gabriel Fox, Byrappa Venkatesh, Aida Bertoli-Avella, Ee Shien Tan, Almundher Al-Maawali, Bruno Reversade, Mathew L. Coleman
Summary: This study characterizes the clinical and biochemical consequences of DRG1 variants, identifying private germline DRG1 variants that cause a neurodevelopmental disorder. The loss-of-function variants severely disrupt DRG1 stability, impair its GTPase activity, and compromise its binding to partner protein ZC3H15. The study highlights the importance of DRG1 in mammalian development and the significance of translation factor GTPases in human physiology and homeostasis.
GENETICS IN MEDICINE
(2023)
Article
Clinical Neurology
Antoine Lefrere, Guillaume Auzias, Pauline Favre, Irene Kaltenmark, Josselin Houenou, Camille Piguet, Mircea Polosan, Lisa T. Eyler, Mary L. Phillips, Amelia Versace, Michele Wessa, Colm McDonald, Dara M. Cannon, Paolo Brambilla, Marcella Bellani, Christine Deruelle, Raoul Belzeaux
Summary: This study explores the cortical folding in relation to neuro-developmental disorders, focusing on a neurodevelopmental subtype of bipolar disorders (BD-ND). It finds that BD-ND is associated with specific brain morphology revealed by the analysis of sulcal pits, suggesting potential insights into the neurodevelopment process and stratification of patients based on pathophysiological hypothesis.
JOURNAL OF AFFECTIVE DISORDERS
(2023)
Review
Neurosciences
Barbara Carpita, Lavinia Migli, Ilaria Chiarantini, Simone Battaglini, Clara Montalbano, Claudia Carmassi, Ivan Mirko Cremone, Liliana Dell'Osso
Summary: This review summarizes the research on the association between fetal alcohol spectrum disorders (FASD) and autism spectrum disorder (ASD), focusing on the clinical overlaps and shared pathogenic mechanisms. The findings highlight the similarities and differences between the two disorders and emphasize the need to improve diagnosis, particularly in milder presentations and sub-syndromic traits.
Article
Cell Biology
Nynke J. van den Hoogen, Charlie H. T. Kwok, Tuan Trang
Summary: This study found age-dependent differences in withdrawal behaviors of opioid medications, with neonatal animals showing unique patterns in both withdrawal behaviors and neuronal activation within specific brainstem regions.
CELLULAR AND MOLECULAR NEUROBIOLOGY
(2021)