Article
Neurosciences
Itay Shekel, Shaked Giladi, Eynav Raykin, May Weiner, Vered Chalifa-Caspi, Dror Lederman, Ora Kofman, Hava M. Golan
Summary: Research suggests that calls emitted by isolated pups may indicate communication deficits and autistic behavior. Changes in pup communication, especially in ASD models, show significant effects on factors such as start and end frequencies, bandwidth, and duration. There are also differences in spectral and temporal properties of calls based on sex and gene/environment factors.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Psychiatry
Camille Champigny, Florence Morin-Parent, Laurence Bellehumeur-Lefebvre, Artuela Caku, Jean-Francois Lepage, Francois Corbin
Summary: This study evaluated the safety and efficacy of combined treatment with lovastatin and minocycline for patients with FXS. The results showed that the combination therapy was safe and improved several aspects of behavior. These findings lay the groundwork for further placebo-controlled double-blind clinical trials to confirm the benefits of the combined therapy.
FRONTIERS IN PSYCHIATRY
(2022)
Article
Behavioral Sciences
Xiaoman Yang, Daji Guo, Keshen Li, Lei Shi
Summary: Characterizing ultrasonic vocalizations (USV) is a useful method for evaluating communication in mouse models of autism spectrum disorder (ASD). This study categorized USVs into 12 types and compared the qualitative and quantitative characteristics of USV repertoire emitted by Dock4 knockout (KO) mice and wild-type (WT) littermates, revealing developmental differences in USV patterns between the two groups. Specifically, the Dock4 KO pups exhibited larger volume and more multiple-note calls with higher pitch compared to WT pups in later developmental stages.
BEHAVIOURAL BRAIN RESEARCH
(2021)
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
Behavioral Sciences
Logan J. Bigelow, Catherine Fiset, Jack H. M. Jarvis, Sarah Macleod, Markus Wohr, Tim A. Benke, Paul B. Bernard
Summary: Early-life seizures are associated with autism spectrum disorder, and deficits in auditory communication were observed in adult male rats following a single episode of kainic acid-induced early-life seizures, potentially contributing to previously reported social deficits associated with ELS.
EPILEPSY & BEHAVIOR
(2022)
Article
Behavioral Sciences
Angela John Thurman, Cesar Hoyos Alvarez, Vivian Nguyen
Summary: This study provides a preliminary evaluation of using weighting procedures to measure communication in play samples for preschool-aged boys with autism or fragile X syndrome. The results indicate the psychometric appropriateness of these procedures, with slightly lower reliability scores observed in boys with autism. Context effects were also observed in the associations between weighting procedure communication scores. Overall, this study provides promising preliminary data on the utility of using weighting procedure communication scores in children with neurodevelopmental disabilities.
Article
Biochemistry & Molecular Biology
Pawel Grochecki, Irena Smaga, Marta Marszalek-Grabska, Malgorzata Lopatynska-Mazurek, Tymoteusz Slowik, Ewa Gibula-Tarlowska, Ewa Kedzierska, Joanna Listos, Malgorzata Filip, Jolanta H. Kotlinska
Summary: This study suggests that prior exposure to synthetic cathinone, mephedrone, has different effects on ethanol reward in adolescent and adult rats. Adult rats with prior mephedrone administration are more sensitive to the ethanol effect in a drug-free state, and this effect is associated with upregulation of dopamine D1 receptors, NMDAR/GluN2B, MMP-9, and Cav1.2 signaling.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(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)
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
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
Psychiatry
Lauren Bush, Gary E. Martin, Emily Landau, Molly Losh
Summary: This study found overlapping and divergent patterns in communicative interactions between children with FXS and ASD, as well as their parents. Differences in pragmatic language difficulties were observed in different situational contexts, with parental language styles impacting child language outcomes. This highlights the complex and multifactorial nature of impaired pragmatic skills in children with FXS and other neurodevelopmental disorders, with implications for targeted interventions.
FRONTIERS IN PSYCHIATRY
(2021)
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.
Review
Psychology, Multidisciplinary
Anne Hoffmann
Summary: Fragile X syndrome is a common cause of inherited intellectual disability and is often associated with a high rate of autism. Language delays are observed in various areas, including overall communication, receptive and expressive language, pragmatic language, speech sounds, and literacy. Individuals diagnosed with both fragile X syndrome and autism tend to have more significant intellectual disability and language disorder. This study explores the language phenotype of fragile X syndrome and highlights the roles of cognition, autistic symptomatology, and gender. Implications for assessment and intervention approaches based on the strengths and weaknesses of the fragile X syndrome language phenotype are discussed.
FRONTIERS IN PSYCHOLOGY
(2022)
Article
Neurosciences
Jonathan W. Lovelace, Maham Rais, Arnold R. Palacios, Xinghao S. Shuai, Steven Bishay, Otilia Popa, Patricia S. Pirbhoy, Devin K. Binder, David L. Nelson, Iryna M. Ethell, Khaleel A. Razak
Article
Neurosciences
Anna O. Kulinich, Sarah M. Reinhard, Maham Rais, Jonathan W. Lovelace, Veronica Scott, Devin K. Binder, Khaleel A. Razak, Iryna M. Ethell
NEUROBIOLOGY OF DISEASE
(2020)
Article
Biochemistry & Molecular Biology
Patricia S. Pirbhoy, Maham Rais, Jonathan W. Lovelace, Walker Woodard, Khaleel A. Razak, Devin K. Binder, Iryna M. Ethell
JOURNAL OF NEUROCHEMISTRY
(2020)
Article
Neurosciences
Anna O. Nguyen, Devin K. Binder, Iryna M. Ethell, Khaleel A. Razak
JOURNAL OF NEUROPHYSIOLOGY
(2020)
Article
Neurosciences
Carrie R. Jonak, Jonathan W. Lovelace, Iryna M. Ethell, Khaleel A. Razak, Devin K. Binder
NEUROBIOLOGY OF DISEASE
(2020)
Article
Neurosciences
Amanda Q. Nguyen, Samantha Sutley, Jordan Koeppen, Karen Mina, Simone Woodruff, Sandy Hanna, Alekya Vengala, Peter W. Hickmott, Andre Obenaus, Iryna M. Ethell
JOURNAL OF NEUROSCIENCE
(2020)
Article
Neurosciences
Jonathan W. Lovelace, Iryna M. Ethell, Devin K. Binder, Khaleel A. Razak
FRONTIERS IN NEUROSCIENCE
(2020)
Article
Neurosciences
Ulla-Kaisa Peteri, Juho Pitkonen, Ilario de Toma, Otso Nieminen, Kagistia Hana Utami, Tomas M. Strandin, Padraic Corcoran, Laurent Roybon, Antti Vaheri, Iryna Ethell, Plinio Casarotto, Mahmoud A. Pouladi, Maija L. Castren
Summary: The expression of urokinase plasminogen activator (uPA) is increased in astrocytes derived from individuals with fragile X syndrome (FXS), influencing extracellular matrix degradation and neuronal plasticity. Activation of pathways associated with uPA and its receptor function was observed in FXS astrocytes. Additionally, increased uPA levels in FXS astrocytes correlated with altered astrocytic responses and neuronal plasticity.
Article
Chemistry, Medicinal
Carlo Baggio, Anna Kulinich, Cassandra N. Dennys, Rochelle Rodrigo, Kathrin Meyer, Iryna Ethell, Maurizio Pellecchia
Summary: The study utilized an innovative NMR-guided screening and ligand design approach to derive low-molecular-weight ligands capable of mimicking interactions elicited by ephrin ligands. These agents demonstrated nanomolar affinity, activated receptors in cellular assays with motor neurons, and provided significant motor neuron protection from ALS patient-derived astrocytes. Structural studies on the complex between the ligand-binding domain and the most active agent offered insights into the agents' mechanism at a molecular level, forming a strong foundation for potential treatment of ALS and other human diseases.
JOURNAL OF MEDICINAL CHEMISTRY
(2021)
Article
Clinical Neurology
Patricia S. Pirbhoy, Carrie R. Jonak, Rashid Syed, Donovan A. Argueta, Pedro A. Perez, Mark B. Wiley, Keon Hessamian, Jonathan W. Lovelace, Khaleel A. Razak, Nicholas DiPatrizio, Iryna M. Ethell, Devin K. Binder
Summary: Increasing 2-AG levels may serve as a potential therapeutic approach to normalize cortical responses and improve behavioral outcomes in Fragile X syndrome (FXS) and possibly other Autism Spectrum Disorders (ASDs). Treatment with JZL-184 resulted in a reduction of abnormal cortical responses and improved behavioral phenotypes in Fmr1 KO mice, indicating the potential efficacy of targeting endocannabinoid modulation for treating FXS and ASD.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
(2021)
Review
Neurosciences
Anis Contractor, Iryna M. Ethell, Carlos Portera-Cailliau
Summary: The pathophysiology of autism remains controversial, with evidence suggesting that dysfunction of cortical interneurons may play a significant role. In particular, reduced density and activity of parvalbumin interneurons have been implicated in autism spectrum disorders. Further research into the interaction of genes and the environment on the development of interneurons is needed to better understand the neural basis of autism.
NATURE NEUROSCIENCE
(2021)
Article
Neurosciences
Maham Rais, Jonathan W. Lovelace, Xinghao S. Shuai, Walker Woodard, Steven Bishay, Leo Estrada, Ashwin R. Sharma, Austin Nguy, Anna Kulinich, Patricia S. Pirbhoy, Arnold R. Palacios, David L. Nelson, Khaleel A. Razak, Iryna M. Ethell
Summary: This study provides insights into the role of excitatory neurons in the abnormal development of PV cells in Fragile X syndrome mice. Deleting or re-expressing FMRP in excitatory neurons is sufficient to elicit or ameliorate cortical deficits and abnormal behaviors.
NEUROBIOLOGY OF DISEASE
(2022)
Review
Psychiatry
Khaleel A. Razak, Devin K. Binder, Iryna M. Ethell
Summary: This study explored the association between autism spectrum disorders and sensory processing disorders, as well as the neural correlates of Fragile X Syndrome. Findings indicated that individuals with Fragile X Syndrome often exhibit atypical sensory processing, including auditory hypersensitivity. By analyzing Fmr1 KO mice, the study revealed the neural mechanisms underlying auditory hypersensitivity and proposed new therapeutic approaches.
FRONTIERS IN PSYCHIATRY
(2021)
Article
Biology
Karo Talvio, Victoria A. Wagner, Rimante Minkeviciene, Jay S. Kirkwood, Anna O. Kulinich, Juzoh Umemori, Anil Bhatia, Manhoi Hur, Reijo Kakela, Iryna M. Ethell, Maija L. Castren
Summary: This study found that individuals with fragile X syndrome and mice with fragile X syndrome show reduced expression of ABCA1 cholesterol transporter in astrocytes, leading to dysregulated cholesterol metabolism, changes in lipid composition, and altered cytokine secretion. These findings provide a new target for therapy in fragile X syndrome.
COMMUNICATIONS BIOLOGY
(2023)
Article
Neurosciences
Amanda Q. Nguyen, Jordan Koeppen, Simone Woodruff, Karen Mina, Zoe Figueroa, Iryna M. Ethell
FRONTIERS IN SYNAPTIC NEUROSCIENCE
(2020)
Article
Behavioral Sciences
Radwa H. Lutfy, Sherine Abdel Salam, Haitham S. Mohammed, Marwa M. Shakweer, Amina E. Essawy
Summary: Insufficient sleep is associated with impaired hypothalamic activity and declined attentional performance. This study found that near-infrared (NIR) laser therapy can alleviate the effects of sleep deprivation on the hypothalamus, enhance antioxidant status, suppress neuroinflammation, and regulate cellular activity.
BEHAVIOURAL BRAIN RESEARCH
(2024)
Article
Behavioral Sciences
Durmus Ali Aslanlar, Emin Fatih Visneci, Mehmet Oz, K. Esra Nurullahoglu Atalik
Summary: Mood disorders caused by chemotherapy have become more important as cancer patients' survival increases. This study used methotrexate to induce mood disorders in rats and found that treatment with the antioxidant N-acetylcysteine (NAC) can alleviate anxiety and depression-like behaviors, increase antioxidant capacity, reduce oxidative stress and inflammatory response, and regulate brain chemistry. The findings suggest that NAC treatment could be an effective strategy in revising the treatment for individuals suffering from chemotherapy-induced mood disorders.
BEHAVIOURAL BRAIN RESEARCH
(2024)
Article
Behavioral Sciences
Yunfan Zhang, Yunbin Zhang, Zhuangfei Chen, Ping Ren, Yu Fu
Summary: This study systematically investigated the effects of extremely low intensity HF-rTMS on cognition in mice and found that 40 Hz rTMS significantly impaired exploratory behavior and spatial memory at both 10 mT and 1 mT conditions. Additionally, 40 Hz stimulation had remarkably different effects on exploratory behavior depending on intensity, compared to 10 Hz stimulation.
BEHAVIOURAL BRAIN RESEARCH
(2024)
Article
Behavioral Sciences
Xuan Xuan, Guangling Zheng, Wenjia Zhu, Qionghua Sun, Yawei Zeng, Juan Du, Xusheng Huang
Summary: This study examines the functional characteristics of the cerebellum in individuals with sALS and their correlation with clinical data. The results show changes in both local and global functional connectivity in the cerebellum of sALS patients, suggesting a pathophysiological role of the cerebellum in sALS.
BEHAVIOURAL BRAIN RESEARCH
(2024)
Article
Behavioral Sciences
Mehdi Rezaei, Mohammad Mahdi Shariat Bagheri
Summary: This study examined the efficacy of tDCS for PTSD and related symptoms, as well as the factors that may predict response to tDCS. The results showed that tDCS had a positive effect in reducing symptoms of PTSD, depression, anxiety, and anhedonia. The severity of symptoms at baseline may also predict the response to tDCS.
BEHAVIOURAL BRAIN RESEARCH
(2024)
Article
Behavioral Sciences
Huimin Wu, Yiqun Guo, Yaoyao Zhang, Le Zhao, Cheng Guo
Summary: Aggression can have serious consequences, but little is known about its personality and neurological origins in children. This study investigated the relationship between self-esteem, aggression, and brain structure in healthy children, and found that self-esteem was negatively associated with aggression. The study also revealed that increased cortical thickness in certain brain areas may be a potential mechanism linking low self-esteem to aggression in children.
BEHAVIOURAL BRAIN RESEARCH
(2024)
Article
Behavioral Sciences
Xinmei Deng, Kexin Chen, Xiaoming Chen, Lin Zhang, Mingping Lin, Xiaoqing Li, Qiufeng Gao
Summary: Parental involvement affects the relationship and communication between parents and adolescents. This study found that high parental involvement is associated with stronger brain-to-brain synchrony during shared positive emotional experiences, while low parental involvement is associated with stronger synchrony during shared negative emotional experiences.
BEHAVIOURAL BRAIN RESEARCH
(2024)
Article
Behavioral Sciences
Xin Deng, I. -Shuo Huang, Kourtlin Williams, Marcy L. Wainwright, Paul Zimba, Riccardo Mozzachiodi
Summary: Food deprivation can lead to neurological dysfunctions, including memory impairment. This study used Aplysia as an animal model to investigate the memory deficits caused by prolonged food deprivation. The results showed that 14 days of food deprivation decreased the level of 5-HT in the hemolymph, which contributed to the lack of sensitization and its cellular correlates. However, exogenous application of 5-HT partially induced sensitization in the food deprived animals.
BEHAVIOURAL BRAIN RESEARCH
(2024)
Article
Behavioral Sciences
Ihori Kobayashi, Patrick A. Forcelli
Summary: The study found that intervention with the dual orexin receptor antagonist suvorexant did not have the expected effects on extinction memory and sleep. Higher percentages of REM sleep were associated with poorer extinction memory recall and stronger fear responses. Additionally, the fear extinction training protocol used in this study did not lead to complete fear extinction.
BEHAVIOURAL BRAIN RESEARCH
(2024)
Article
Behavioral Sciences
Jiyan Xu, Xinlu Chen, Shuai Liu, Ziqi Wei, Minhui Xu, Linhao Jiang, Xue Han, Liangyu Peng, Xiaoping Gu, Tianjiao Xia
Summary: This study investigated the effects of nicotinamide mononucleotide (NMN) on oxidative stress and cognitive function in postoperative cognitive dysfunction (POCD) mice. The results showed that NMN pretreatment reduced oxidative stress damage and alleviated cognitive impairment in POCD mice.
BEHAVIOURAL BRAIN RESEARCH
(2024)
Article
Behavioral Sciences
Song Liu, Qiang Wu, Liyue Wang, Cong Xing, Junrui Guo, Baicao Li, Hongpeng Ma, Hao Zhong, Mi Zhou, Shibo Zhu, Rusen Zhu, Guangzhi Ning
Summary: In this study, a systematic assessment indicator was developed to objectively evaluate hindlimb motor function recovery in rats after thoracic contusion SCI. By screening CatWalk XT gait parameters and using exploratory factor analysis, 38 suitable parameters for assessing motor function were identified. A reliable Coordinated Function Index (CFI) was proposed based on these parameters and simplified for improved assessment efficacy.
BEHAVIOURAL BRAIN RESEARCH
(2024)
Article
Behavioral Sciences
Kyosuke Shiga, Shota Miyaguchi, Yasuto Inukai, Naofumi Otsuru, Hideaki Onishi
Summary: This study aimed to investigate the effects of transcranial alternating current stimulation (tACS) on microscale learning in implicit motor tasks. Contrary to expectations, the results showed that the stimulation protocol had no significant effects on microscale learning, revealing a novel aspect of microscale learning in implicit motor tasks.
BEHAVIOURAL BRAIN RESEARCH
(2024)
Article
Behavioral Sciences
Cahide Aslan, Rahime Aslankoc, Ozlem Ozmen, Buse Nur Suluk, Oguzhan Kavrik, Nurhan Gumral
Summary: This study examined the negative effects of high fructose corn syrup on prefrontal cortex damage in adolescent rats, as well as the protective role of vitamin D.
BEHAVIOURAL BRAIN RESEARCH
(2024)
Article
Behavioral Sciences
Matin Baghani, Arad Bolouri-Roudsari, Reyhaneh Askari, Abbas Haghparast
Summary: The study suggests that the orexinergic system in the dentate gyrus region of the brain may act as an endogenous pain control system and a potential target for treating stress-related disorders.
BEHAVIOURAL BRAIN RESEARCH
(2024)
Article
Behavioral Sciences
Sen Zhou, Yang Liu, Binbin Xue, Peigen Yuan
Summary: This study confirmed that low-dose Esketamine alleviates LPS-induced depressive symptoms by regulating the GSK-3 beta/NLRP3 pathway. Appropriate doses of Esketamine are essential for the treatment of depression in the clinical setting.
BEHAVIOURAL BRAIN RESEARCH
(2024)