Fragile X Syndrome Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Differential Effects of a Behavioral Treatment Probe on Social Gaze Behavior in Fragile X Syndrome and Non-Syndromic Autism Spectrum Disorder
J Autism Dev Disord. 2023 May 4. doi: 10.1007/s10803-023-05919-6. Online ahead of print.ABSTRACTThe purpose of this study was to examine potential differences in social learning between individuals with fragile X syndrome (FXS), the leading known inherited cause of intellectual disability, and individuals with non-syndromic autism spectrum disorder (ASD). Thirty school-aged males with FXS and 26 age and symptom-matched males with non-syndromic ASD, were administered a behavioral treatment probe designed to improve levels of social gaze during interactions with others. The treatment probe was administered by a trained behav...
Source: Journal of Autism and Developmental Disorders - May 4, 2023 Category: Psychiatry Authors: Scott S Hall Tobias C Britton Source Type: research

An escalating continuum of learning and attention difficulties from premutation to full mutation in female carriers of FMR1 expansion
ConclusionSpecific learning and attention difficulties and resulting daily function difficulties correlate with an increased number of CGG repeats and are more likely to be associated as a common feature of premutation and full mutation in a female premutation carrier. Despite evidence of learning and attention difficulties, it is encouraging that most female carriers of the premutation and full mutation function well in most areas. Nevertheless, they face significant difficulties in specific areas of functioning such as driving, and confusion in times and schedules. Those daily function skills are mostly impacted by dysca...
Source: Frontiers in Neurology - May 2, 2023 Category: Neurology Source Type: research

FMRP phosphorylation and interactions with Cdh1 regulate association with dendritic RNA granules and MEF2-triggered synapse elimination
Neurobiol Dis. 2023 Apr 27:106136. doi: 10.1016/j.nbd.2023.106136. Online ahead of print.ABSTRACTFragile X Messenger Ribonucleoprotein 1 (FMRP) is necessary for experience-dependent, developmental synapse elimination and the loss of this process may underlie the excess dendritic spines and hyperconnectivity of cortical neurons in Fragile X Syndrome, a common inherited form of intellectual disability and autism. Little is known of the signaling pathways that regulate synapse elimination and if or how FMRP is regulated during this process. We have characterized a model of synapse elimination in CA1 neurons of organotypic hip...
Source: Neurobiology of Disease - April 29, 2023 Category: Neurology Authors: Julia R Wilkerson Marius F Ifrim Arielle Valdez Patricia Hahn Jacob E Bowles Gemma Molinaro Aleksandra Janusz-Kaminska Gary J Bassell Kimberly M Huber Source Type: research

Deregulation of ER-mitochondria contact formation and mitochondrial calcium homeostasis mediated by VDAC in fragile X syndrome
Dev Cell. 2023 Apr 10;58(7):597-615.e10. doi: 10.1016/j.devcel.2023.03.002.ABSTRACTLoss of fragile X messenger ribonucleoprotein (FMRP) causes fragile X syndrome (FXS), the most prevalent form of inherited intellectual disability. Here, we show that FMRP interacts with the voltage-dependent anion channel (VDAC) to regulate the formation and function of endoplasmic reticulum (ER)-mitochondria contact sites (ERMCSs), structures that are critical for mitochondrial calcium (mito-Ca2+) homeostasis. FMRP-deficient cells feature excessive ERMCS formation and ER-to-mitochondria Ca2+ transfer. Genetic and pharmacological inhibition...
Source: Developmental Cell - April 11, 2023 Category: Cytology Authors: Ji Geng Tejinder Pal Khaket Jie Pan Wen Li Yan Zhang Yong Ping Maria Inmaculada Cobos Sillero Bingwei Lu Source Type: research

IJERPH, Vol. 20, Pages 5430: Medicinal Cannabis for Paediatric Developmental, Behavioural and Mental Health Disorders
lor Parents of children with developmental, behavioural and mental health disorders are increasingly asking whether medicinal cannabis might be a therapeutic option for their child. This paper presents the current evidence for medicinal cannabis in this population. Preliminary evidence from open-label studies suggests the potential for medicinal cannabis to ameliorate some symptoms in children with autism spectrum disorder. However, only one double-blind placebo-controlled trial has been completed, with inconclusive findings. Synthetic, transdermal cannabidiol gel has demonstrated efficacy for reducing social avoidance...
Source: International Journal of Environmental Research and Public Health - April 7, 2023 Category: Environmental Health Authors: Daryl Efron Kaitlyn Taylor Tags: Review Source Type: research

The activation of mGluR4 rescues parallel fiber synaptic transmission and LTP, motor learning and social behavior in a mouse model of Fragile X Syndrome
ConclusionsOur study shows that an increase in synaptic vesicles, SV, docking may cause the loss of PF-LTP and motor learning and social deficits ofFmr1KO mice and that the reversal of these changes by pharmacological activation of mGluR4 may offer therapeutic relief for motor learning and social deficits in FXS. (Source: Molecular Autism)
Source: Molecular Autism - April 7, 2023 Category: Molecular Biology Source Type: research

Astrocytes mediate cell non-autonomous correction of aberrant firing in human FXS neurons
We examined the astrocytic regulation of aberrant firing of FXS neurons derived from human pluripotent stem cells. Human FXS cortical neurons, co-cultured with human FXS astrocytes, fired frequent short-duration spontaneous bursts of action potentials compared with less frequent, longer-duration bursts of control neurons co-cultured with control astrocytes. Intriguingly, bursts fired by FXS neurons co-cultured with control astrocytes are indistinguishable from control neurons. Conversely, control neurons exhibit aberrant firing in the presence of FXS astrocytes. Thus, the astrocyte genotype determines the neuronal firing p...
Source: Cell Research - April 5, 2023 Category: Cytology Authors: Shreya Das Sharma Bharath Kumar Reddy Rakhi Pal Tuula E Ritakari James D Cooper Bhuvaneish T Selvaraj Peter C Kind Siddharthan Chandran David J A Wyllie Sumantra Chattarji Source Type: research

Association of Intrinsic Functional Brain Network and Longitudinal Development of Cognitive-Behavioral Symptoms in Young Girls with Fragile X Syndrome
Fragile X syndrome (FXS) is an X chromosome-linked, genetic disorder characterized by increased risk for behavioral, social, and neurocognitive deficits. Due to a more severe phenotype relative to females, research has focused largely on identifying neural abnormalities in all-male or mixed-sex participants with FXS. Therefore, very little is known about the neural alterations that contribute to cognitive-behavioral symptoms in females with FXS. This cross-sectional study aimed to elucidate the large-scale resting-state brain networks associated with the multi-domain cognitive-behavioral phenotype in girls with FXS. (Sourc...
Source: Biological Psychiatry - March 30, 2023 Category: Psychiatry Authors: Rihui Li, Amy A. Lightbody, Cindy H. Lee, Kristi L. Bartholomay, Matthew J. Marzelli, Allan L. Reiss Tags: Archival Report Source Type: research

Association of Intrinsic Functional Brain Network and Longitudinal Development of Cognitive Behavioral Symptoms in Young Girls With Fragile X Syndrome
Fragile X syndrome (FXS) is an X chromosome –linked genetic disorder characterized by increased risk for behavioral, social, and neurocognitive deficits. Because males express a more severe phenotype than females, research has focused largely on identifying neural abnormalities in all-male or both-sex populations with FXS. Therefore, very l ittle is known about the neural alterations that contribute to cognitive behavioral symptoms in females with FXS. This cross-sectional study aimed to elucidate the large-scale resting-state brain networks associated with the multidomain cognitive behavioral phenotype in girls with FXS...
Source: Biological Psychiatry - March 30, 2023 Category: Psychiatry Authors: Rihui Li, Amy A. Lightbody, Cindy H. Lee, Kristi L. Bartholomay, Matthew J. Marzelli, Allan L. Reiss Tags: Archival Report Source Type: research

Negative affect and respiratory sinus arrhythmia are differentially related to social anxiety and autism features in autistic preschoolers contrasted to fragile X syndrome
DiscussionTaken together, biobehavioral markers differentiated the groups in discrete ways that advance our understanding of autism and promote improved diagnostic clarity using objective measurement. (Source: Frontiers in Psychiatry)
Source: Frontiers in Psychiatry - March 20, 2023 Category: Psychiatry Source Type: research

Targeted Treatments for Fragile X Syndrome
Adv Neurobiol. 2023;30:225-253. doi: 10.1007/978-3-031-21054-9_10.ABSTRACTThe histories of targeted treatment trials in fragile X syndrome (FXS) are reviewed in animal studies and human trials. Advances in understanding the neurobiology of FXS have identified a number of pathways that are dysregulated in the absence of FMRP and are therefore pathways that can be targeted with new medication. The utilization of quantitative outcome measures to assess efficacy in multiple studies has improved the quality of more recent trials. Current treatment trials including the use of cannabidiol (CBD) topically and metformin orally have...
Source: Adv Data - March 17, 2023 Category: Epidemiology Authors: Devon Johnson Courtney Clark Randi Hagerman Source Type: research