Researchers Expand Understanding of Genetic Mechanisms Underlying Fragile X Syndrome
An NIMH-supported study of the 3D genome revealed widespread silencing of genes with important roles in brain function in fragile X syndrome and related disorders. (Source: National Institute of Mental Health)
Source: National Institute of Mental Health - January 18, 2024 Category: Psychiatry Authors: National Institute of Mental Health Source Type: news

Enlarged perivascular spaces in infant brains linked to autism risk
Infants with enlarged perivascular spaces have a more than two-fold greater chance of developing autism compared with infants with normal perivascular spaces, according to researchers from the University of North Carolina in Chapel Hill."These results suggest that perivascular spaces could serve as an early marker for autism," said study lead author Dea Garic, PhD, in a statement released January 2 by the university.Every six hours, the brain expels a wave of cerebrospinal fluid (CSF) that flows through perivascular spaces; this fluid mitigates the buildup of neuroinflammatory proteins, such as amyloid beta. The cleansing ...
Source: Headlines - January 3, 2024 Category: Radiology Authors: Kate Madden Yee Tags: Subspecialties Neuroradiology Pediatric Radiology Source Type: news

A review of the use of psychotropic medication to address challenging behaviour in neurodevelopmental disorders - Valdovinos MG, Epperson C, Johnson C.
Engagement in challenging behaviour (e.g., aggression, self-injury) is reported to occur in neurodevelopmental disorders such as intellectual disabilities (ID), autism spectrum disorder (ASD), and fragile X syndrome (FXS). Common interventions to address t... (Source: SafetyLit)
Source: SafetyLit - November 24, 2023 Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news

Missing signals from Fragile astrocytes | Science Signaling
The loss of a secreted factor from astrocytes may underlie neuronal pathology in Fragile X syndrome. (Source: Signal Transduction Knowledge Environment)
Source: Signal Transduction Knowledge Environment - June 13, 2023 Category: Science Source Type: news

Why Does He Rock His Body?
Discussion Stereotypies are “…patterned, repetitive, purposeless, involuntary movements that are also rhythmic and continual and tend to change little over time.” They occur at all times of the day, and can get worse with stress or heightened emotions including happiness. Stereotypies more often occur in children with developmental disabilities (up to 61%), sensory impairments (e.g. blindness) or social deprivation. They can be present more often in patients with autism (up to 88%). They can be seen in ~7% of normally developing children too. Their onset is before age 3 years and tend to improve over year...
Source: - May 22, 2023 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

Giant Leap Forward in Understanding Autism
In Fragile X syndrome (FXS), the most common cause of autism, sensory signals from the outside world integrate differently, causing them to be underrepresented by cortical pyramidal neurons in the brain (Source: Disabled World)
Source: Disabled World - February 16, 2023 Category: Disability Tags: Autism Information Source Type: news

Upstate researcher makes discovery in the Fragile X syndrome, receives funding to research genomic defects
Fragile X syndrome is a genetic disorder that occurs when mutations in the FMR1 gene cause the absence or loss of function of FMRP, a protein needed for brain development. (Source: SUNY Upstate Medical)
Source: SUNY Upstate Medical - September 1, 2022 Category: Universities & Medical Training Tags: News Research Source Type: news

Conducting in-home functional analyses of aggression and self-injury exhibited by boys with fragile X syndrome - Monlux KD, Pollard JS, Bujanda Rodriguez AY, Hall SS.
OBJECTIVE: Boys with fragile X syndrome (FXS) are at increased risk for exhibiting aggression and self-injury that can be extremely disruptive to families. Few studies, however, have examined the extent to which social-environmental factors can influence t... (Source: SafetyLit)
Source: SafetyLit - November 1, 2021 Category: International Medicine & Public Health Tags: Age: Infants and Children Source Type: news

Zynerba initiates late-stage study of potential treatment for fragile X syndrome
The rare condition is the most common known single-gene cause of autism spectrum disorder. (Source: Health Care:Physician Practices headlines)
Source: Health Care:Physician Practices headlines - September 13, 2021 Category: American Health Authors: John George Source Type: news

What Are Some Etiologies for Intellectual Disability?
Discussion “Intellectual disability (ID) is a neurodevelopmental disorder that is characterized by deficits in both intellectual functioning and adaptive function whose onset is in the development period.” Global developmental delay (GDD) is used to describe children from 0-5 years old with significant delays in 2 or more developmental areas. These delays may be transient but up to 2/3 of children with GDD will have ID. Overall 1-3% of the general population has ID which makes it very common. Most children with GDD/ID are identified because of delays in meeting milestones or general academic achievement. ID pat...
Source: - May 3, 2021 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

An Alzheimer's Drug May Boost Cognition In People With Fragile X Syndrome
An experimental medicine seems to ease symptoms of Fragile X syndrome, a genetic disorder that is the most common inherited cause of intellectual disabilities and autism.(Image credit: Richard J. Green/Science Source) (Source: NPR Health and Science)
Source: NPR Health and Science - April 30, 2021 Category: Consumer Health News Authors: Jon Hamilton Source Type: news

Genome-editing tool TALEN outperforms CRISPR-Cas9 in tightly packed DNA
(University of Illinois at Urbana-Champaign, News Bureau) Researchers used single-molecule imaging to compare the genome-editing tools CRISPR-Cas9 and TALEN. Their experiments revealed that TALEN is up to five times more efficient than CRISPR-Cas9 in parts of the genome, called heterochromatin, that are densely packed. Fragile X syndrome, sickle cell anemia, beta-thalassemia and other diseases are the result of genetic defects in the heterochromatin. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - January 27, 2021 Category: International Medicine & Public Health Source Type: news

Zynerba provides progress report on its potential Fragile X syndrome therapy
Zynerba Pharmaceuticals, a developer of synthetic and transdermal cannabinoid therapies for rare neuropsychiatric disorders, said Thursday it expects to begin a "pivotal" late-stage clinical trial of its experimental Fragile X syndrome therapy Zygel late next year. The leaders of the 13-year-old Devon company said they believe positive results from the trial, to confirm previous study results, would be sufficient to support the submission of a new drug application for Zygel to treat Fragile X. Zynerba's… (Source: Health Care:Biotechnology headlines)
Source: Health Care:Biotechnology headlines - December 17, 2020 Category: Biotechnology Authors: John George Source Type: news

New drug moves closer to becoming first treatment for Fragile X Syndrome
(University at Buffalo) A new drug discovered through a research collaboration between the University at Buffalo and Tetra Therapeutics took a major step toward becoming a first-in-class treatment for Fragile X Syndrome, a leading genetic cause of autism. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - December 11, 2020 Category: International Medicine & Public Health Source Type: news

What Causes Fragile X Syndrome?
Title: What Causes Fragile X Syndrome?Category: Diseases and ConditionsCreated: 11/21/2020 12:00:00 AMLast Editorial Review: 11/21/2020 12:00:00 AM (Source: MedicineNet Kids Health General)
Source: MedicineNet Kids Health General - November 21, 2020 Category: Pediatrics Source Type: news