Multimodal assessment of the GABA system in patients with fragile-X syndrome and neurofibromatosis of type 1
Neurobiol Dis. 2022 Oct 3:105881. doi: 10.1016/j.nbd.2022.105881. Online ahead of print.ABSTRACTFragile-X syndrome (FXS) and Neurofibromatosis of type 1 (NF-1) are two monogenic disorders sharing neurobehavioral symptoms and pathophysiological mechanisms. Namely, preclinical models of both conditions show overactivity of the mTOR signaling pathway as well as GABAergic alterations. However, despite its potential clinical relevance for these disorders, the GABAergic system has not been systematically studied in humans. In the present study, we used an extensive transcranial magnetic stimulation (TMS) assessment battery in co...
Source: Neurobiology of Disease - October 6, 2022 Category: Neurology Authors: Angelina Lacroix M élodie Proteau-Lemieux Samantha C ôté Jamie Near Steve C N Hui Richard A E Edden Sarah Lipp é Artuela Çaku Fran çois Corbin Jean-Fran çois Lepage Source Type: research
Multimodal assessment of the GABA system in patients with fragile-X syndrome and neurofibromatosis of type 1
Neurobiol Dis. 2022 Oct 3;174:105881. doi: 10.1016/j.nbd.2022.105881. Online ahead of print.ABSTRACTFragile-X syndrome (FXS) and Neurofibromatosis of type 1 (NF-1) are two monogenic disorders sharing neurobehavioral symptoms and pathophysiological mechanisms. Namely, preclinical models of both conditions show overactivity of the mTOR signaling pathway as well as GABAergic alterations. However, despite its potential clinical relevance for these disorders, the GABAergic system has not been systematically studied in humans. In the present study, we used an extensive transcranial magnetic stimulation (TMS) assessment battery i...
Source: Neurobiology of Disease - October 6, 2022 Category: Neurology Authors: Angelina Lacroix M élodie Proteau-Lemieux Samantha C ôté Jamie Near Steve C N Hui Richard A E Edden Sarah Lipp é Artuela Çaku Fran çois Corbin Jean-Fran çois Lepage Source Type: research
Genes, Vol. 13, Pages 1795: Profiling Genome-Wide DNA Methylation in Children with Autism Spectrum Disorder and in Children with Fragile X Syndrome
ora Tassone
Autism spectrum disorder (ASD) is an early onset, developmental disorder whose genetic cause is heterogeneous and complex. In total, 70% of ASD cases are due to an unknown etiology. Among the monogenic causes of ASD, fragile X syndrome (FXS) accounts for 2–4% of ASD cases, and 60% of individuals with FXS present with ASD. Epigenetic changes, specifically DNA methylation, which modulates gene expression levels, play a significant role in the pathogenesis of both disorders. Thus, in this study, using the Human Methylation EPIC Bead Chip, we examined the global DNA methylation profiles of biologi...
Source: Genes - October 4, 2022 Category: Genetics & Stem Cells Authors: Mittal Jasoliya Jianlei Gu Reem R. AlOlaby Blythe Durbin-Johnson Frederic Chedin Flora Tassone Tags: Article Source Type: research
Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program
Ruth Leibowitz, Sharon Lewis, Jon Emery, John Massie, Melanie Smith, Martin Delatycki, Alison Archibald (Source: Australian Journal of Primary Health)
Source: Australian Journal of Primary Health - October 4, 2022 Category: Primary Care Authors: Ruth Leibowitz Sharon Lewis Jon Emery John Massie Melanie Smith Martin Delatycki Alison Archibald Source Type: research
Thalamocortical dysrhythmia as a unifying model of neuropsychiatric and neurosensory dysfunction in fragile x syndrome
The silencing of the Fmr1 gene in fragile X syndrome (FXS) leads to varying levels of intellectual disability, sensory hyperarousal, and neuropsychiatric symptoms. EEG studies in FXS have demonstrated marked changes in low-frequency (theta, alpha) and high-frequency (gamma) activity which, if better understood, may provide insight into mechanisms for precision targeting of therapies. Here, in a large sample of males and females with FXS (including ascertainment of mosaic status), we use source/network modeling to investigate evidence of thalamocortical dysfunction in FXS. (Source: Journal of the American Academy of Child a...
Source: Journal of the American Academy of Child and Adolescent Psychiatry - October 1, 2022 Category: Psychiatry Authors: Ernest Pedapati, Lauren Ethridge, John Sweeney, Makoto Miyakoshi, Lauren Schmitt, Rui Liu, Steve Wu, Donald Gilbert, Paul Horn, Craig A. Erickson Source Type: research
1.64 Pharmacological and Nonpharmacological Treatments of Individuals With Fragile X Syndrome
Fragile X syndrome (FXS), caused by epigenetic silencing of the fragile X messenger ribonucleoprotein 1 (FMR1) gene, is associated with multiple neurobehavioral abnormalities that require pharmacological and nonpharmacological treatments. Here, we report on the frequency and type of such treatments for children with FXS. (Source: Journal of the American Academy of Child and Adolescent Psychiatry)
Source: Journal of the American Academy of Child and Adolescent Psychiatry - October 1, 2022 Category: Psychiatry Authors: Dejan B. Budimirovic, Dragana Protic, Dora Stojanovic, Catherine Eliades, Kristen Judy, Constance Smith-Hicks, Erika Augustine, Walter E. Kaufmann Source Type: research
Long-term follow-up of telehealth-enabled behavioral treatment for challenging behaviors in boys with fragile X syndrome
ConclusionsEmpowering parents to implement behavior analytic treatments with their child in their own home can have durable effects on maintaining low levels of challenging behaviors in boys with FXS. These data further support the need to implement parent-mediated interventions for challenging behaviors in this population at an early age.Trial registrationClinicalTrials.gov,NCT03510156. Registered 27 April 2018 (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - September 30, 2022 Category: Neurology Source Type: research
A Systematic Review of Fragile X-Associated Neuropsychiatric Disorders
CONCLUSIONS: Future studies are needed to avoid bias by identifying cohorts from population-based sampling, to describe cohort demographic characteristics to elucidate differences in age and sex, and to prioritize the use of validated psychiatric assessment methods.PMID:36172690 | DOI:10.1176/appi.neuropsych.21110282 (Source: Journal of Neuropsychiatry and Clinical Neurosciences)
Source: Journal of Neuropsychiatry and Clinical Neurosciences - September 29, 2022 Category: Psychiatry Authors: Joshua Flavell Catherine Franklin Peter J Nestor Source Type: research
