Article
Neurosciences
Benedetta Kassabian, Christina Duhring Fenger, Marjolaine Willems, Angel Aledo-Serrano, Tarja Linnankivi, Pamela Pojomovsky McDonnell, Laina Lusk, Birgit Susanne Jepsen, Michael Bayat, Anja Kattentidt, Anna Abuli Vidal, Gabriel Valero-Lopez, Helena Alarcon-Martinez, Kimberly Goodspeed, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Rikke S. Moller, Katrine M. Johannesen, Guido Rubboli
Summary: The phenotypic spectrum of SLC6A1-related neurodevelopmental disorders (SLC6A1-NDD) includes intellectual disability (ID), autistic spectrum disorders (ASD), epilepsy, developmental delay, and other neurological features. Our study aimed to investigate intrafamilial phenotypic variability in families with SLC6A1 variants and found that relatives presented with a less severe phenotype compared to probands.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Health Care Sciences & Services
Giulia Antolini, Marco Colizzi
Summary: Neurodevelopmental disorders (NDDs) are complex conditions that begin during the early developmental period and are often associated with various neuropsychiatric features. They can have a significant impact on an individual's quality of life and overall functioning throughout adulthood, challenging the previous notion of being childhood-limited disorders. There is a growing understanding of a neurodevelopmental continuum, where NDDs may have different outcomes depending on the severity of altered brain development.
Article
Neurosciences
Katrine M. Johannesen, Jimmi Nielsen, Anne Sabers, Bertrand Isidor, Anja A. Kattentidt-Mouravieva, Dominik Zieglgaensberger, Alexis R. Heidlebaugh, Kathryn F. Oetjens, Anna Abuli Vidal, Jakob Christensen, Jacob Tiller, Amber N. Freed, Rikke S. Moller, Guido Rubboli
Summary: SLC6A1 is a common genetic cause of epilepsy and neurodevelopmental disorders. Adult patients with SLC6A1 variants show similar phenotypic characteristics to pediatric patients, including intellectual disability, epilepsy, and behavioral disorders.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Biochemistry & Molecular Biology
Mio Aerden, Anne-Sophie Denomme-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Benedicte Gerard, Benoit Mazel, Christophe Philippe, Lucile Pinson, Clement Prouteau, Audrey Putoux, Frederic Tran Mau-Them, Eleonore Viora-Dupont, Antonio Vitobello, Alban Ziegler, Amelie Piton, Bertrand Isidor, Christine Francannet, Pierre-Yves Maillard, Sophie Julia, Anais Philippe, Elise Schaefer, Saskia Koene, Claudia Ruivenkamp, Mariette Hoffer, Eric Legius, Miel Theunis, Boris Keren, Julien Buratti, Perrine Charles, Thomas Courtin, Mala Misra-Isrie, Mieke van Haelst, Quinten Waisfisz, Dagmar Wieczorek, Ariane Schmetz, Theresia Herget, Fanny Kortuem, Jasmin Lisfeld, Francois-Guillaume Debray, Nuria C. Bramswig, Isis Atallah, Heidi Fodstad, Guillaume Jouret, Berta Almoguera, Saoud Tahsin-Swafiri, Fernando Santos-Simarro, Maria Palomares-Bralo, Vanesa Lopez-Gonzalez, Maria Kibaek, Pernille M. Torring, Alessandra Renieri, Lucia Pia Bruno, Katrin Ounap, Monica Wojcik, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch
Summary: Haploinsufficiency of TRIP12 causes Clark-Baraitser syndrome, a neurodevelopmental disorder characterized by intellectual disability, epilepsy, autism spectrum disorder, and dysmorphic features. Through GestaltMatcher image analysis based on deep-learning algorithms, a distinct facial gestalt was established. The largest cohort to date of individuals with TRIP12 variants was studied, further defining the associated phenotype and introducing a facial gestalt.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Review
Genetics & Heredity
Ciara Hanly, Harshil Shah, Ping Yee Billie Au, Kara Murias
Summary: Neurodevelopmental disorders encompass a range of conditions including intellectual disability, global developmental delay, autism spectrum disorder, and attention deficit hyperactivity disorder. Despite advancements in genetic diagnostic technology, there are variations in reports on cognitive and developmental outcomes in affected individuals. Future research should focus on barriers to assessment, the development of modified assessment tools suitable for long-term outcomes in genetic neurodevelopmental disorders, and the collection of longitudinal data.
Review
Neurosciences
Kristel N. Eigenhuis, Hedda B. Somsen, Debbie L. C. van den Berg
Summary: This review provides an overview of the importance of transcription pause-release in gene expression control and discusses the neurodevelopmental disorders associated with mutations in regulators of pause-release.
FRONTIERS IN NEUROSCIENCE
(2022)
Review
Psychiatry
Wenting Zhuang, Tong Ye, Wei Wang, Weihong Song, Tao Tan
Summary: CTNNB1 is a gene that encodes b-catenin and plays a crucial role in the Wnt signaling pathway, regulating cellular homeostasis. While most studies on CTNNB1 have focused on its role in cancer, it has recently been found to be involved in neurodevelopmental disorders (NDDs) such as intellectual disability, autism, and schizophrenia. Mutations in CTNNB1 disrupt the Wnt signaling pathway, leading to abnormalities in gene transcription, synaptic plasticity, neuronal apoptosis, and neurogenesis. This review explores various aspects of CTNNB1 and its physiological and pathological functions in the brain, as well as recent research on its expression and function in NDDs. The findings suggest that CTNNB1 might be one of the top high-risk genes for NDDs and a potential therapeutic target for their treatment.
FRONTIERS IN PSYCHIATRY
(2023)
Article
Genetics & Heredity
Nicholas Donnelly, Adam Cunningham, Sergio Marco Salas, Matthew Bracher-Smith, Samuel Chawner, Jan Stochl, Tamsin Ford, F. Lucy Raymond, Valentina Escott-Price, Marianne B. M. van den Bree
Summary: This study developed a screening tool using machine learning techniques to identify individuals with genomic conditions associated with neurodevelopmental disorders (ND-GCs) who would benefit from additional support. The study identified a set of variables that accurately differentiate individuals with ND-GCs from controls and identified 5 dimensions related to behavior, anxiety, communication, and motor development. This research provides an important foundation for screening and assessing young people with ND-GCs.
Review
Biochemistry & Molecular Biology
Jeffrey J. Moffat, Amanda L. Smith, Eui-Man Jung, Minhan Ka, Woo-Yang Kim
Summary: ARID1B haploinsufficiency is a common cause of intellectual disability and autism spectrum disorder, leading to emotional disturbances. Research has focused on the molecular mechanisms of neurodevelopment and brain function regulation, as well as the development of treatment strategies for ARID1B-related disorders. Animal models have successfully replicated behavioral phenotypes of ASD and ID, aiding in understanding the role of ARID1B in brain development. Therapeutic potential has been identified, with positive results seen in the use of a GABA(A) receptor positive allosteric modulator for treatment.
MOLECULAR PSYCHIATRY
(2022)
Article
Psychiatry
Elizabeth Lin, Robert Balogh, Hannah Chung, Kristin Dobranowski, Anna Durbin, Tiziana Volpe, Yona Lunsky
Summary: The study found that individuals with IDD and MHAs had higher risks for negative health and healthcare outcomes, especially in terms of readmission, repeat ED visit, and long-term care admission. This suggests the need for a comprehensive, system-wide approach to improve the health and well-being of this population.
BRITISH JOURNAL OF PSYCHIATRY
(2021)
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
Neurosciences
Tao Wei, Zheng Guo, Zhibin Wang, Cancan Li, Wei Zhu, Yulu Zheng, Yunsi Yin, Yingxin Mi, Xinyi Xia, Haifeng Hou, Yi Tang
Summary: The study found no significant evidence supporting the causal association between the five major psychiatric disorders and AD.
JOURNAL OF ALZHEIMERS DISEASE
(2022)
Article
Neurosciences
Luca Murru, Luisa Ponzoni, Anna Longatti, Sara Mazzoleni, Giorgia Giansante, Silvia Bassani, Mariaelvina Sala, Maria Passafaro
Summary: Mutations in the TM4SF2 gene can lead to severe intellectual disability (ID) often with autism spectrum disorder (ASD). Studies on mice with TM4SF2 loss have shown altered sociability, increased repetitive behaviors, anhedonic- and depressive-like states in addition to an ID-like phenotype. Further research revealed that LHb neurons in Tm4sf2-Tm4sf2(-/y) mice exhibit hypoexcitability, aberrant firing patterns, and dysfunctional ion channels, potentially explaining the observed behavioral phenotype.
NEUROBIOLOGY OF DISEASE
(2021)
Article
Genetics & Heredity
Marije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, Justyna Iwaszkiewicz, Maaike Bastiaansen, Ligia Mateiu, Merlijn Nemegeer, Josephina A. N. Meester, Alexandra Afenjar, Michelle Amaral, Diana Ballhausen, Sarah Barnett, Magalie Barth, Bob Asselbergh, Katrien Spaas, Bavo Heeman, Jennifer Bassetti, Patrick Blackburn, Marie Schaer, Xavier Blanc, Vincent Zoete, Kari Casas, Thomas Courtin, Diane Doummar, Frederic Guerry, Boris Keren, John Pappas, Rachel Rabin, Amber Begtrup, Marwan Shinawi, Anneke T. Vulto-van Silfhout, Tjitske Kleefstra, Matias Wagner, Alban Ziegler, Elise Schaefer, Benedicte Gerard, Charlotte De Bie, Sjoerd J. B. Holwerda, Mary Alice Abbot, Stylianos E. Antonarakis, Bart Loeys
Summary: This study describes a neurodevelopmental disorder caused by de novo variants in CTR9, primarily affecting PAF1C function. Clinical features of the patients include intellectual disability, hypotonia, joint hyperlaxity, speech delay, coordination problems, tremor, and autism spectrum disorder.
GENETICS IN MEDICINE
(2022)
Review
Biochemistry & Molecular Biology
Carla Liaci, Lucia Prandi, Lisa Pavinato, Alfredo Brusco, Mara Maldotti, Ivan Molineris, Salvatore Oliviero, Giorgio R. Merlo
Summary: Long non-coding RNAs (lncRNAs) are widely expressed in the human brain, and may play a role in normal brain development and the molecular pathology of neurodevelopmental disorders. However, their involvement in intellectual disability (ID) and neurodevelopmental disorders is still poorly understood, and only a few genomic alterations have been causally linked to the disease endophenotype. Further investigation into the non-coding genome may uncover novel pathogenic mechanisms and translational opportunities.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
