Article
Biology
Ethiraj Ravindran, Nobuto Arashiki, Lena-Luise Becker, Kohtaro Takizawa, Jonathan Levy, Thomas Rambaud, Konstantin L. Makridis, Yoshio Goshima, Na Li, Maaike Vreeburg, Benedicte Demeer, Achim Dickmanns, Alexander P. A. Stegmann, Hao Hu, Fumio Nakamura, Angela M. Kaindl
Summary: Variants in the CRMP1 gene are discovered to be associated with neurodevelopmental disorders such as muscular hypotonia, intellectual disability, and/or autism spectrum disorder. These variants may affect the protein structure and function of CRMP1, leading to alterations in cellular processes and neurite outgrowth.
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)
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
Clinical Neurology
Trine Tangeraas, Juliana R. Constante, Paul Hoff Backe, Alfonso Oyarzabal, Julia Neugebauer, Natalie Weinhold, Francois Boemer, Francois G. Debray, Burcu Ozturk-Hism, Gumus Evren, Eminoglu F. Tuba, Oncul Ummuhan, Emma Footitt, James Davison, Caroline Martinez, Clarissa Bueno, Irene Machado, Pilar Rodriguez-Pombo, Nouriya Al-Sannaa, Mariela de los Santos, Jordi Muchart Lopez, Hatice Ozturkmen-Akay, Meryem Karaca, Mustafa Tekin, Sonia Pajares, Aida Ormazabal, Stephanie D. Stoway, Rafael Artuch, Marjorie Dixon, Lars Morkrid, Angeles Garcia-Cazorla
Summary: Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a neurodevelopmental disorder characterized by autism, intellectual disability and microcephaly. This study reports the largest cohort of patients studied, expanding the phenotypic and genotypic spectrum, and provides newborn screening findings and mid-term clinical outcome.
Article
Genetics & Heredity
Yoel Gofin, Tianyun Wang, Madelyn A. Gillentine, Tiana M. Scott, Aliska M. Berry, Mahshid S. Azamian, Casie Genetti, Pankaj B. Agrawal, Jonathan Picker, Monica H. Wojcik, Mauricio R. Delgado, Sally A. Lynch, Stephen W. Scherer, Jennifer L. Howe, Carlos A. Bacino, Stephanie DiTroia, Grace E. VanNoy, Anne O'Donnell-Luria, Seema R. Lalani, William D. Graf, Jill A. Rosenfeld, Evan E. Eichler, Rachel K. Earl, Daryl A. Scott
Summary: Research shows that variations in the PAX5 gene may be associated with neurodevelopmental disorders such as autism spectrum disorder, with common phenotypes including developmental delay, intellectual disability, and autism.
Article
Medical Laboratory Technology
Shimeng Chen, Juan Xiong, Baiyu Chen, Ciliu Zhang, Xiaolu Deng, Fang He, Lifen Yang, Chen Chen, Jing Peng, Fei Yin
Summary: This study retrospectively analyzed the clinical characteristics and genetic spectrum of 79 ASD-NDDs patients, and found that 51.3% of the patients received a genetic diagnosis. Most patients had comorbid intellectual disability or global developmental delay, as well as epilepsy. The study also identified novel candidate genes related to ASD.
CLINICA CHIMICA ACTA
(2022)
Article
Medicine, General & Internal
Hyunjin Kwon, Hyokju Maeng, Jinwook Chung
Summary: This study developed an ICT-based exergame for children with developmental disabilities (DD) and examined its impacts on physical fitness and fundamental motor skills (FMS). The results showed that the exergame program significantly improved physical fitness and three FMS (hop, overhand throw, and dribble) in children with DD except for the horizontal jump skill.
JOURNAL OF CLINICAL MEDICINE
(2022)
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)
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
Clinical Neurology
Kelsie A. Boulton, Adam J. Guastella, Marie-Antoinette Hodge, Eleni A. Demetriou, Natalie Ong, Natalie Silove
Summary: Children with neurodevelopmental conditions attending developmental assessment services have high rates of mental health concerns, with approximately 48% of preschool and 61% of school-age children having subclinical or clinically elevated scores. These rates remain high even after excluding items specifically related to neurodevelopmental concerns. School-aged females are more likely to have elevated internalizing problems compared to males (67% vs 48%). Children with multiple DSM-5 diagnoses also show a greater rate of subclinical or clinically elevated scores. These findings highlight the importance of identifying and addressing mental health concerns in children attending developmental assessment services.
JOURNAL OF AFFECTIVE DISORDERS
(2023)
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)
Article
Psychology, Developmental
Taeyeop Lee, Hyeji Lee, Soowhee Kim, Kee Jeong Park, Joon-Yong An, Hyo-Won Kim
Summary: This study aimed to investigate the genetic variations that contribute to the early neurodevelopmental outcomes in developmental disabilities (DDs). Through exome sequencing, it was found that the improvement group, compared to the non-improvement group, had a lower number of risk variants in known DD genes and haploinsufficient genes, as well as an overall lower number of putative risk variants. These findings provide a preliminary basis for developing a sequencing analysis model that predicts clinical outcomes.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2022)
Article
Biochemistry & Molecular Biology
Lisa Pavinato, Ehsan Nematian-Ardestani, Andrea Zonta, Silvia De Rubeis, Joseph Buxbaum, Cecilia Mancini, Alessandro Bruselles, Marco Tartaglia, Mauro Pessia, Stephen J. Tucker, Maria Cristina D'Adamo, Alfredo Brusco
Summary: In this study, biallelic missense variants in the KCNK18 gene were identified in a family with three siblings affected by mild-to-moderate ID, ASD, and other neurodevelopment-related features. Functional characterization of the variants showed impaired channel activity, particularly with the alteration of the Ser252 site leading to additive downstream effects. These findings expand the clinical variability associated with altered TRESK function and provide further insight into the relationship between altered function of this ion channel and human disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
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
Pediatrics
Taketoshi Yoshida, Kenta Matsumura, Takehiro Hatakeyama, Hidekuni Inadera
Summary: This study examined the associations between mode of delivery and neurodevelopmental disorders in toddlers, and found that Cesarean section (CS) birth was associated with higher risk of autism spectrum disorder (ASD) at age 3. In the analysis by sex, CS was associated with increased risks of motor delay and ASD in females.
Review
Psychology, Developmental
Kara Murias, Brian Brooks, Adam Kirton, Giuseppe Iaria
DEVELOPMENTAL NEUROPSYCHOLOGY
(2014)
Article
Neuroimaging
Kara Murias, Edward Slone, Sana Tariq, Giuseppe Iaria
BRAIN IMAGING AND BEHAVIOR
(2019)
Article
Health Care Sciences & Services
Matthew Joseph Russell, Craig William Michael Scott, Kara Murias, W. Ben Gibbard, Xinjie Cui, Suzanne Tough, Jennifer D. Zwicker
Summary: This study investigated the cross-ministry service use of children who qualified for special education and found that children receiving higher levels of funding generally faced more functional limitations, had more service needs, and received early support. However, children with serious behavioral/mental health special education coding showed relatively poorer outcomes.
DISABILITY AND HEALTH JOURNAL
(2021)
Article
Genetics & Heredity
Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra, Anna Alkelai, Stylianos E. Antonarakis, Isis Atallah, Omer Bar-Yosef, Frederic Bilan, Kathrine Bjorgo, Xavier Blanc, Patrick Van Bogaert, Yoav Bolkier, Lindsay C. Burrage, Bjorn U. Christ, Jorge L. Granadillo, Patricia Dickson, Kirsten A. Donald, Christele Dubourg, Aviva Eliyahu, Lisa Emrick, Kendra Engleman, Michaela Veronika Gonfiantini, Jean-Marc Good, Judith Kalser, Chiara Kloeckner, Guus Lachmeijer, Marina Macchiaiolo, Francesco Nicita, Sylvie Odent, Emily O'Heir, Xilma Ortiz-Gonzalez, Marta Pacio-Miguez, Maria Palomares-Bralo, Loren Pena, Konrad Platzer, Mathieu Quinodoz, Emmanuelle Ranza, Jill A. Rosenfeld, Eliane Roulet-Perez, Avni Santani, Fernando Santos-Simarro, Ben Pode-Shakked, Cara Skraban, Rachel Slaugh, Andrea Superti-Furga, Isabelle Thiffault, Richard H. van Jaabrsveld, Marie Vincent, Hong-Gang Wang, Pia Zacher, Eric Rush, Geoffrey Pitt, Ping Yee Billie Au, Vandana Shashi
Summary: Variants in the CACNA1C gene may be associated with neurological symptoms, including developmental delays, intellectual disability, autism, hypotonia, ataxia, and epilepsy.
GENETICS IN MEDICINE
(2021)
Article
Genetics & Heredity
Tatiana Maroilley, Nicola A. M. Wright, Catherine Diao, Linda MacLaren, Gerald Pfeffer, Justyna R. Sarna, Ping Yee Billie Au, Maja Tarailo-Graovac
Summary: This study reports a child with progressive ataxia, chorea, and genome instability, highly suggestive of Ataxia-telangiectasia (AT). Through clinical ataxia gene panel and trio genome sequencing, a maternal heterozygous synonymous variant and a novel deep intronic variant inherited from the father were identified. Transcript analyses and DNA repair analyses confirmed functional loss of ATM. These findings highlight the importance of genome sequencing in undiagnosed rare disease patients.
FRONTIERS IN GENETICS
(2022)
Article
Neurosciences
Xiao-Ru Yang, Vamsi Krishna Murthy Ginjupalli, Olivier Theriault, Hugo Poulin, Juan Pablo Appendino, Ping Yee Billie Au, Mohamed Chahine
Summary: Pathogenic variants in the SCN2A gene are associated with epilepsy and neurodevelopmental disorders. However, the true electrophysiological effects of most disease-causing variants have yet to be characterized. In this study, a mosaic variant in the SCN2A gene was found in an infant with early-onset epilepsy, and biophysical characterization revealed a mixture of gain- and loss-of-function effects.
JOURNAL OF NEUROPHYSIOLOGY
(2022)
Article
Genetics & Heredity
Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P. Adam, Hans T. Bjornsson, Jacqueline Harris, David A. Dyment, Gail E. Graham, Marjan M. Nezarati, Ritu B. Aul, Claudia Castiglioni, Jeroen Breckpot, Koen Devriendt, Helen Stewart, Benito Banos-Pinero, Sarju Mehta, Richard Sandford, Carolyn Dunn, Remi Mathevet, Lionel van Maldergem, Juliette Piard, Elise Brischoux-Boucher, Antonio Vitobello, Laurence Faivre, Marie Bournez, Frederic Tran-Mau, Isabelle Maystadt, Alberto Fernandez-Jaen, Sara Alvarez, Irene Diez Garcia-Prieto, Fowzan S. Alkuraya, Hessa S. Alsaif, Zuhair Rahbeeni, Karen El-Akouri, Mariam Al-Mureikhi, Rebecca C. Spillmann, Vandana Shashi, Pedro A. Sanchez-Lara, John M. Graham, Amy Roberts, Odelia Chorin, Gilad D. Evrony, Minna Kraatari-Tiri, Tracy Dudding-Byth, Anamaria Richardson, David Hunt, Laura Hamilton, Sarah Dyack, Bryce A. Mendelsohn, Nicolas Rodriguez, Rosario Sanchez-Martinez, Jair Tenorio-Castano, Julian Nevado, Pablo Lapunzina, Pilar Tirado, Maria-Teresa Carminho Amaro Rodrigues, Lina Quteineh, A. Micheil Innes, Antonie D. Kline, P. Y. Billie Au, Rosanna Weksberg
Summary: Au-Kline syndrome (AKS) is a neurodevelopmental disorder characterized by multiple malformations and a unique facial appearance. Recent studies have identified a specific DNA methylation signature for AKS, which can help understand its underlying pathophysiology and aid in variant interpretation for individuals with mild presentations.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Psychology, Educational
Ford Burles, Irene Liu, Chelsie Hart, Kara Murias, Susan A. Graham, Giuseppe Iaria
Article
Genetics & Heredity
Rani A. Bashir, Abhijit Dixit, Caitlin Goedhart, Jillian S. Parboosingh, Allan M. Innes, Patrick Ferreira, Shabih U. Hasan, Ping-Yee B. Au
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2017)
Review
Clinical Neurology
Kara Murias, Andrea Moir, Kenneth Alexis Myers, Irene Liu, Xing-Chang Wei
BRAIN & DEVELOPMENT
(2017)
Article
Psychology, Developmental
Kara Murias, Adam Kirton, Sana Tariq, Adrian Gil Castillejo, Andrea Moir, Giuseppe Iaria
DEVELOPMENTAL NEUROPSYCHOLOGY
(2017)
Article
Psychology, Multidisciplinary
Kara Murias, Kathy Kwok, Adrian Gil Castillejo, Irene Liu, Giuseppe Iaria
COMPUTERS IN HUMAN BEHAVIOR
(2016)
Article
Physiology
Ken Lukowiak, Kara Martens, Mike Orr, Kashif Parvez, David Rosenegger, Susan Sangha
RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY
(2006)