Article
Psychology, Developmental
Angel Belle C. Dy, Lourdes Bernadette S. Tanchanco, Jenica Clarisse Y. Sy, Myla Dominicina Levantino, Randi J. Hagerman
Summary: This study aimed to determine the presence of FXS or premutation carriers among Filipino children with autism and describe the phenotypic characteristics of the identified cases.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Neurosciences
Cindy H. Lee, Kristi L. Bartholomay, Matthew J. Marzelli, Jonas G. Miller, Jennifer L. Bruno, Amy A. Lightbody, Allan L. Reiss
Summary: This study investigated neuroanatomical differences in young females with fragile X syndrome compared to a matched control group. The results showed larger total gray and white matter volumes in girls with fragile X syndrome, as well as differences in specific brain regions. These findings provide insights into the gene-brain-behavior relationships underlying the fragile X syndrome phenotype in females and expand our understanding of the neurodevelopmental mechanisms in this condition.
Review
Clinical Neurology
Ramkumar Aishworiya, Dragana Protic, Randi Hagerman
Summary: There is increasing recognition of the heterogeneity of origin of cases of autism spectrum disorder (ASD), with genetic etiology identified in 20-40% of cases. The Fragile X premutation state is a newly discovered disease state associated with various disorders, including ASD, and understanding molecular mechanisms may facilitate targeted treatments in the future.
JOURNAL OF NEUROLOGY
(2022)
Article
Genetics & Heredity
Mittal Jasoliya, Jianlei Gu, Reem R. AlOlaby, Blythe Durbin-Johnson, Frederic Chedin, Flora Tassone
Summary: This study examined the global DNA methylation profiles of ASD and FXS patients, as well as typically developing children, using the Human Methylation EPIC Bead Chip. The researchers identified differentially methylated sites and regions among the three groups and found that some of the differentially methylated genes were important for brain development. Enrichment analysis revealed involvement of pathways related to synaptic plasticity. This study highlights the significant role of altered DNA methylation in the pathology of ASD and FXS, and suggests the potential for developing diagnostic and therapeutic interventions.
Article
Psychology, Developmental
Leann Smith DaWalt, Heather Fielding-Gebhardt, Kandace K. Fleming, Steven F. Warren, Nancy Brady
Summary: This study found that among children with fragile X syndrome, attention problems and aggressive behavior decreased steadily while anxious/depressed behavior remained relatively stable. Adolescents with highly flexible mothers showed more optional trajectories for improvement in attention problems.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2022)
Article
Psychology, Developmental
Heather Fielding-Gebhardt, Shelley L. Bredin-Oja, Steven F. Warren, Nancy C. Brady
Summary: Accurate representation of ASD in FXS is essential for the field. Different classification methods yielded discrepant results, suggesting that a singular measure of autism symptomology is insufficient to characterize autism in FXS.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2021)
Article
Biochemistry & Molecular Biology
Dragana D. Protic, Ramkumar Aishworiya, Maria Jimena Salcedo-Arellano, Si Jie Tang, Jelena Milisavljevic, Filip Mitrovic, Randi J. Hagerman, Dejan B. Budimirovic
Summary: FXS is a neurodevelopmental disorder that can be improved through early diagnosis and interventions targeting behavior symptoms.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Nutrition & Dietetics
Cara J. Westmark
Summary: The study found associations between the use of soy-based infant formula and worsened autistic behaviors in females and males with fragile X syndrome. It suggests the need for prospective evaluation of soy-based infant formula on disease comorbidities in fragile X syndrome, and supports further investigation into early gastrointestinal problems in the syndrome. The findings also indicate that premutation fragile X mothers should be encouraged to breastfeed, based on data from the Fragile X Syndrome Nutrition Study.
Review
Cell Biology
Toshihiro Nomura
Summary: The imbalance of excitatory-inhibitory (E-I) balance has been implicated in various neurological and psychiatric diseases, including autism spectrum disorder (ASD). Fragile X syndrome (FXS) is a single-gene disorder that is the most common known cause of ASD, and deficits in inhibitory circuits in FXS tip the E-I balance towards excitation. Manipulating the activity of inhibitory interneurons can ameliorate symptoms in FXS, suggesting the potential for targeting interneurons to correct disrupted E-I balance in FXS.
Article
Psychology, Multidisciplinary
Angela John Thurman, Amanda Dimachkie Nunnally
Summary: This study compared joint attention between preschool-aged boys with autism and fragile X syndrome (FXS). While joint attention appeared similar, differences were observed after controlling for other factors, particularly in language and anxiety symptoms.
FRONTIERS IN PSYCHOLOGY
(2022)
Article
Genetics & Heredity
Kaylynn Shuleski, Laura Zalles, Reymundo Lozano
Summary: This study explores the concerns and challenges caregivers of individuals affected by Fragile X Syndrome (FXS) encounter when considering long-term support plans. Most FXS individuals currently live with family due to various reasons, such as parental desire and inability to live independently. Caregivers are concerned about multiple aspects of the individuals' future, with higher levels of concern for younger individuals.
Article
Psychology, Developmental
Walter E. Kaufmann, Melissa Raspa, Carla M. Bann, Julia M. Gable, Holly K. Harris, Dejan B. Budimirovic, Reymundo Lozano
Summary: This study investigates behavioral subtypes of Fragile X syndrome using a pediatric cross-sectional sample. Through latent class analysis, five distinct subtypes were identified, each with unique behavioral profiles. These findings are crucial for improving clinical management and therapeutic development.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2022)
Article
Nutrition & Dietetics
Cara J. Westmark
Summary: Long-term or exclusive breastfeeding is associated with reduced prevalence of key comorbidities in FXS, however, it is also linked to the earlier development of gastrointestinal problems and allergies.
Article
Multidisciplinary Sciences
Sameer Aryal, Francesco Longo, Eric Klann
Summary: Through ribosome profiling and RNA sequencing, we found reduced ribosome footprint abundance in the majority of differentially translated genes in FXS mice, which can be corrected by genetic reduction of S6K1. Additionally, genetic removal of S6K1 prevented alterations in translation efficiencies with coding sequence length across mRNAs in FXS mouse cortices.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Cell & Tissue Engineering
Ai Zhang, Irina Sokolova, Alain Domissy, Joshua Davis, Lee Rao, Kagistia Hana Utami, Yanling Wang, Randi J. Hagerman, Mahmoud A. Pouladi, Pietro Sanna, Michael J. Boland, Jeanne F. Loring
Summary: This study investigates the effects of Fragile X Syndrome (FXS) on GABAergic neurogenesis and suggests that loss of FMRP prolongs the proliferative stage of progenitors, leading to immature neurons in later stages of neurogenesis. This finding has implications for understanding the development of excitatory-inhibitory circuits in FXS and may guide therapeutic interventions.
STEM CELLS TRANSLATIONAL MEDICINE
(2022)
Article
Psychiatry
Katherine E. MacDuffie, Mark D. Shen, Stephen R. Dager, Martin A. Styner, Sun Hyung Kim, Sarah Paterson, Juhi Pandey, Tanya St John, Jed T. Elison, Jason J. Wolff, Meghan R. Swanson, Kelly N. Botteron, Lonnie Zwaigenbaum, Joseph Piven, Annette M. Estes
AMERICAN JOURNAL OF PSYCHIATRY
(2020)
Correction
Neurosciences
Adam T. Eggebrecht, Jed T. Elison, Eric Feczko, Alexandre Todorov, Jason J. Wolff, Sridhar Kandala, Chloe M. Adams, Abraham Z. Snyder, John D. Lewis, Annette M. Estes, Lonnie Zwaigenbaum, Kelly N. Botteron, Robert C. McKinstry, John N. Constantino, Alan Evans, Heather C. Hazlett, Stephen Dager, Sarah J. Paterson, Robert T. Schultz, Martin A. Styner, Guido Gerig, Samir Das, Penelope Kostopoulos, Bradley L. Schlaggar, Steven E. Petersen, Joseph Piven, John R. Pruett
Article
Endocrinology & Metabolism
Katherine M. Reding, Martin M. Styner, Mark E. Wilson, Donna Toufexis, Mar M. Sanchez
PSYCHONEUROENDOCRINOLOGY
(2020)
Article
Multidisciplinary Sciences
Jessica Raper, Zsofia Kovacs-Balint, Maud Mavigner, Sanjeev Gumber, Mark W. Burke, Jakob Habib, Cameron Mattingly, Damien Fair, Eric Earl, Eric Feczko, Martin Styner, Sherrie M. Jean, Joyce K. Cohen, Mehul S. Suthar, Mar M. Sanchez, Maria C. Alvarado, Ann Chahroudi
NATURE COMMUNICATIONS
(2020)
Article
Neurosciences
Yilin Liu, Brendon M. Nacewicz, Gengyan Zhao, Nagesh Adluru, Gregory R. Kirk, Peter A. Ferrazzano, Martin A. Styner, Andrew L. Alexander
FRONTIERS IN NEUROSCIENCE
(2020)
Article
Neurosciences
Astrid Schmied, Takahiro Soda, Guido Gerig, Martin Styner, Meghan R. Swanson, Jed T. Elison, Mark D. Shen, Robert C. McKinstry, John R. Pruett, Kelly N. Botteron, Annette M. Estes, Stephen R. Dager, Heather C. Hazlett, Robert T. Schultz, Joseph Piven, Jason J. Wolff
Article
Neurosciences
John H. Gilmore, Benjamin Langworthy, Jessica B. Girault, Jason Fine, Shaili C. Jha, Sun Hyung Kim, Emil Cornea, Martin Styner
BIOLOGICAL PSYCHIATRY-COGNITIVE NEUROSCIENCE AND NEUROIMAGING
(2020)
Article
Computer Science, Interdisciplinary Applications
Jiazhou Chen, Guoqiang Han, Hongmin Cai, Defu Yang, Paul J. Laurienti, Martin Styner, Guorong Wu
Summary: The spatial patterns of disease-relevant brain alterations follow large-scale brain networks rather than occurring randomly. A novel connectome harmonic analysis framework is proposed to provide enhanced mathematical insights into disease progression by detecting frequency-based alterations relevant to brain disorders. This approach outperforms Euclidean methods in identifying significant and reproducible network dysfunction patterns related to Alzheimer's disease.
IEEE TRANSACTIONS ON MEDICAL IMAGING
(2021)
Meeting Abstract
Endocrinology & Metabolism
Jason Glanzman, Keith A. Werling, Ashley Whited, Giulio Zuccoli, Michele D. Poe, Maria L. Escolar
MOLECULAR GENETICS AND METABOLISM
(2021)
Article
Endocrinology & Metabolism
Rebecca C. Knickmeyer, Crystal T. Nguyen, Jeffrey T. Young, Anne Haunton, Michael R. Kosorok, John H. Gilmore, Martin Styner, Debora A. Rothmond, Pamela L. Noble, Rhoshel Lenroot, Cynthia Shannon Weickert
Summary: The study found that prepubertal gonadectomy alters the developmental trajectory of prefrontal gray matter in male rhesus macaques, suggesting that the prefrontal cortex is more vulnerable to gonadectomy compared to other brain regions.
PSYCHONEUROENDOCRINOLOGY
(2021)
Article
Hematology
Isabel C. Yoon, Nicholas A. Bascou, Michele D. Poe, Paul Szabolcs, Maria L. Escolar
Summary: HSCT can prolong the lifespan and improve the functional abilities of late-infantile patients with Krabbe disease, especially those who undergo transplantation before symptom onset. The cognitive outcomes were better for patients with disease onset at >12 months compared to untreated patients. The findings support reclassifying late-infantile Krabbe disease to symptom onset at 12 to 36 months of age.
Article
Biochemistry & Molecular Biology
Danielle N. Rendina, Gabriele R. Lubach, Mark Lyte, Gregory J. Phillips, Ankush Gosain, Joseph F. Pierre, Roza M. Vlasova, Martin A. Styner, Christopher L. Coe
Summary: This study tracked the assembly of gut microbiota during the initial nursing period and transition to solid food in infant monkeys. The dynamic bacterial community structure reflected different maturational phases, influenced early by breast milk and later by solid foods. Higher abundance of certain microbial taxa during nursing was associated with slower growth trajectories and smaller brain volumes at one year of age.
Article
Multidisciplinary Sciences
Alexander L. Carlson, Kai Xia, M. Andrea Azcarate-Peril, Samuel P. Rosin, Jason P. Fine, Wancen Mu, Jared B. Zopp, Mary C. Kimmel, Martin A. Styner, Amanda L. Thompson, Cathi B. Propper, Rebecca C. Knickmeyer
Summary: Experimental manipulation of the gut microbiome in animal models impacts fear behaviors. This pilot study suggests associations between features of the human infant gut microbiome and non-social fear behaviors. Understanding the role of the gut microbiome in human fear behavior development requires further validation with a larger sample size.
NATURE COMMUNICATIONS
(2021)
Article
Genetics & Heredity
Kai Xia, Andrey A. Shabalin, Zhaoyu Yin, Wonil Chung, Patrick F. Sullivan, Fred A. Wright, Martin Styner, John H. Gilmore, Rebecca C. Santelli, Fei Zou
Summary: We developed an efficient alternative called TwinEQTL to the linear mixed-effects model for twin genome-wide association study data. TwinEQTL splits twin samples into two independent groups and combines the test results using a meta-analysis-like approach. Mathematical derivations and simulations show that TwinEQTL is valid and has comparable power to the gold-standard linear mixed-effects models.
Article
Neurosciences
M. L. Davenport, E. Cornea, K. Xia, J. J. Crowley, M. W. Halvorsen, B. D. Goldman, D. Reinhartsen, M. DeRamus, R. Pretzel, M. Styner, J. H. Gilmore, S. R. Hooper, R. C. Knickmeyer
