Experience-dependent changes in hippocampal spatial activity and hippocampal circuit function are disrupted in a rat model of Fragile X Syndrome
ConclusionsIn conclusion, we found that hippocampal place cells fromFmr1−/y rats show similar spatial firing properties as those from WT rats but do not show the same experience-dependent increase in spatial specificity or the experience-dependent changes in network coordination. Our findings offer support to a network-level origin of cognitive deficits in FXS. (Source: Molecular Autism)
Source: Molecular Autism - December 20, 2022 Category: Molecular Biology Source Type: research
Genes, Vol. 13, Pages 2399: Fragile X-Associated Neuropsychiatric Disorders (FXAND) in Young Fragile X Premutation Carriers
Conclusions: Our findings indicate a high rate of FXAND diagnoses within a cohort of young PM individuals, including those identified via cascade testing, although this was not a population sample. An awareness of the entity of FXAND and the early recognition of the symptoms of associated conditions may facilitate timely and appropriate care for PM individuals. (Source: Genes)
Source: Genes - December 17, 2022 Category: Genetics & Stem Cells Authors: Ramkumar Aishworiya Dragana Protic Si Jie Tang Andrea Schneider Flora Tassone Randi Hagerman Tags: Article Source Type: research
The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study
ConclusionFindings demonstrated that repeated sampling of hair follicles in individuals with FXS, in both, home, and office settings, is feasible, repeatable, and can be used for measurement ofFMR1 mRNA and FMRP in longitudinal studies. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - December 9, 2022 Category: Neurology Source Type: research
Altered frontal connectivity as a mechanism for executive function deficits in fragile X syndrome
ConclusionsWe report gamma hyper-connectivity and alpha hypo-connectivity within source-localized frontal brain regions in FXS compared to TDC during resting-state EEG. For the first time in FXS, we report significant associations between EF and altered frontal connectivity, with increased error rate relating to increased gamma band connectivity and reduced alpha band connectivity. These findings suggest increased phase connectivity within gamma band may impair EF performance, whereas greater alpha band connectivity may provide compensatory support for EF. Together, these findings provide important insight into neurophysio...
Source: Molecular Autism - December 9, 2022 Category: Molecular Biology Source Type: research
[ASAP] Emerging Therapeutic Strategies for Fragile X Syndrome: Q & A
ACS Chemical NeuroscienceDOI: 10.1021/acschemneuro.2c00674 (Source: ACS Chemical Neuroscience)
Source: ACS Chemical Neuroscience - December 7, 2022 Category: Neuroscience Authors: Ghassan Alusi, Elizabeth Berry-Kravis, David Nelson, Lauren L. Orefice, and Sam A. Booker Source Type: research
Psilocybin mitigates the cognitive deficits observed in a rat model of Fragile X syndrome
ConclusionsThese data support the hypothesis that serotonin-modulating drugs such as psilocybin may be useful to ameliorate ASD-related cognitive deficits. Overall, this study provides evidence of the beneficial effects of different schedules of psilocybin treatment in mitigating the short-term cognitive deficit observed in a rat model of FXS. (Source: Psychopharmacology)
Source: Psychopharmacology - December 5, 2022 Category: Psychiatry Source Type: research
Anxiety, Depression, and Social Skills in Girls with Fragile X Syndrome: Understanding the Cycle to Improve Outcomes
This study is designed to better understand these symptoms in school-age girls, particularly as they relate to age, social skills, and functional outcomes.
Methods:
We compared 58 girls aged 6 to 16 years with FXS with 46 age-matched, sex-matched, and developmentally matched peers without FXS on measures of anxiety, depression, social skills, adaptive behavior, and quality of life.
Results:
Girls with FXS 10.5 years and older demonstrated significantly higher levels of depression, withdrawal, and social avoidance than girls younger than 10.5 years with FXS (p-values (Source: Journal of Developmental and Behavioral Pediatrics)
Source: Journal of Developmental and Behavioral Pediatrics - December 1, 2022 Category: Child Development Tags: Original Article Source Type: research
Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome
J Autism Dev Disord. 2022 Nov 28. doi: 10.1007/s10803-022-05821-7. Online ahead of print.ABSTRACTFragile X syndrome (FXS) is characterized by variable neurobehavioral abnormalities, which leads to difficulties in developing and evaluating treatments and in determining accurate prognosis. We employed a pediatric cross-sectional sample (1,072 males, 338 females) from FORWARD, a clinic-based natural history study, to identify behavioral subtypes by latent class analysis. Input included co-occurring behavioral conditions, sleep and sensory problems, autistic behavior scales (SCQ, SRS-2), and the Aberrant Behavior Checklist rev...
Source: Journal of Autism and Developmental Disorders - November 28, 2022 Category: Psychiatry Authors: Walter E Kaufmann Melissa Raspa Carla M Bann Julia M Gable Holly K Harris Dejan B Budimirovic Reymundo Lozano FORWARD Consortium Source Type: research
Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome
J Autism Dev Disord. 2022 Nov 28. doi: 10.1007/s10803-022-05821-7. Online ahead of print.ABSTRACTFragile X syndrome (FXS) is characterized by variable neurobehavioral abnormalities, which leads to difficulties in developing and evaluating treatments and in determining accurate prognosis. We employed a pediatric cross-sectional sample (1,072 males, 338 females) from FORWARD, a clinic-based natural history study, to identify behavioral subtypes by latent class analysis. Input included co-occurring behavioral conditions, sleep and sensory problems, autistic behavior scales (SCQ, SRS-2), and the Aberrant Behavior Checklist rev...
Source: Journal of Autism and Developmental Disorders - November 28, 2022 Category: Psychiatry Authors: Walter E Kaufmann Melissa Raspa Carla M Bann Julia M Gable Holly K Harris Dejan B Budimirovic Reymundo Lozano FORWARD Consortium Source Type: research
A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX)
ConclusionsIn CONNECT-FX, ZYN002 was well tolerated in patients with FXS and demonstrated evidence of efficacy with a favorable benefit risk relationship in patients with ≥ 90% methylation of theFMR1 gene, in whom gene silencing is most likely, and the impact of FXS is typically most severe.Trial registrationThe CONNECT-FX trial is registered on Clinicaltrials.gov (NCT03614663). (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - November 25, 2022 Category: Neurology Source Type: research
Safe Administration of Electroconvulsive Therapy in a Patient With Catatonia and Neuropsychiatric Lupus Comorbid With Fragile X Syndrome
No abstract available (Source: The Journal of ECT)
Source: The Journal of ECT - November 24, 2022 Category: Psychiatry Tags: Letters to the Editor Source Type: research
Recent developments of phosphodiesterase inhibitors: Clinical trials, emerging indications and novel molecules
The phosphodiesterase (PDE) enzymes, key regulator of the cyclic nucleotide signal transduction system, are long-established as attractive therapeutic targets. During investigation of trends within clinical trials, we have identified a particularly high number of clinical trials involving PDE inhibitors, prompting us to further evaluate the current status of this class of therapeutic agents. In total, we have identified 87 agents with PDE-inhibiting capacity, of which 85 interact with PDE enzymes as primary target. We provide an overview of the clinical drug development with focus on the current clinical uses, novel molecu...
Source: Frontiers in Pharmacology - November 24, 2022 Category: Drugs & Pharmacology Source Type: research
[ASAP] Hemispheric Utilization of Alpha Oscillatory Dynamics as a Unique Biomarker of Neural Compensation in Females with Fragile X Syndrome
ACS Chemical NeuroscienceDOI: 10.1021/acschemneuro.2c00404 (Source: ACS Chemical Neuroscience)
Source: ACS Chemical Neuroscience - November 21, 2022 Category: Neuroscience Authors: Jordan E. Norris, Lisa A. DeStefano, Lauren M. Schmitt, Ernest V. Pedapati, Craig A. Erickson, John A. Sweeney, and Lauren E. Ethridge Source Type: research
Pain characteristics in people with Prader-Willi, Williams, and Fragile-X syndromes: an international survey of caregivers ’ perspective
AbstractMany people with intellectual disabilities (ID) depend on caregivers for pain identification and pain management decisions. Therefore, the aim was to explore caregivers ’ experience with pain in Prader-Willi syndrome (PWS), Williams syndrome (WS), and Fragile-X syndrome (FXS). A questionnaire was developed to gather third-party reporting of mainly pain presence, expression, and coping. Questions had single or multiple choice answers and open text fields, without verification of the putative information. The questionnaire was sent digitally to associations and interest groups for the syndromes and healthcare insti...
Source: Journal of Developmental and Physical Disabilities - November 9, 2022 Category: Disability Source Type: research
